Variant report for hu4CA5B9
- Data source: CGI sample GS01669-DNA_B03 from PGP sample 14427241
- This report: evidence.pgp-hms.org/genomes?71de745b89fe235a7b1a96c3269b3390b902c49b
- Person ID: hu4CA5B9
- public profile: my.pgp-hms.org/profile/hu4CA5B9
- Download: source data, dbSNP and nsSNP report (118 MB)
- Processing status: processing
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Log file:
| Row number | Variant | Clinical Importance | Evidence | Impact | Allele freq | Summary | Sufficient |
|---|---|---|---|---|---|---|---|
| 1 | ABCA4-V2050L | High | Uncertain | Uncertain pathogenic Recessive, Carrier (Heterozygous) | 0.00371816 | Reported to cause Stargardt Disease (progressive vision loss) in a recessive manner. | 1 |
| 2 | HFE-C282Y | Low | Well-established | Well-established pathogenic Recessive, Carrier (Heterozygous) | 0.0494516 | This variant is associated with hereditary haemochromatosis, 80% of patients with that disease are homozygous for this variant. However, the penetrance is low, in Beutler et al. they note that only 1 of their 158 homozygotes met criteria for diagnosis with the condition. | 1 |
| 3 | MBL2-R52C | Low | Likely | Likely pathogenic Recessive, Homozygous | 0.048615 | This variant is associated with mannose binding protein deficiency which leads to impaired complement system immune response to mannose-rich pathogens. Patients homozygous for this allele or compound heterozygous are likely to have increased susceptibility to infection, but Hellemann et al. report heterosis for intensive care outcomes in heterozygous subjects. The wild-type version of this gene is known as variant allele A, while this is called variant allele D. See G54D (variant B) and G57E (variant C). | 1 |
| 4 | TGFB1-R25P | Low | Uncertain | Uncertain pathogenic Complex/Other, Heterozygous | 0.0488858 | This variant in a growth factor gene is associated with variation in TGFB1 levels; this has been associated with various pathogenic and some protective effects, including: more hepatic fibrosis progression in hep C patients, lower risk of cleft palate, anticorrelation with longevity, higher risk of myocardial infarction and lower risk of hypertension. | 1 |
| 5 | KDR-C482R | Low | Uncertain | Uncertain pathogenic Complex/Other, Heterozygous | 0.0209147 | Hypothesized to cause a higher risk of benign neonatal hemangiomas (which are seen in 10% of children). However, observations lacked statistical significance. | 1 |
| 6 | TP53-P72R | Low | Uncertain | Uncertain pathogenic Unknown, Homozygous | 0.627743 | This is a common variant was first reported as a polymorphism. It has since had mixed associations with cancer: Storey et al. conclude a 7x *increased* risk of HPV cancer for homozygotes vs hets, but Jones et al. find a 1.98x *decreased* risk for colorectal cancer. This variant may have significant impact on particular cancers, but it is unclear what effect it has on the overall burden of cancer. | 1 |
| 7 | H6PD-R453Q | Low | Uncertain | Uncertain pathogenic Recessive, Carrier (Heterozygous) | 0.308886 | This common variant may have a small pathogenic effect by contributing to cortisone reductase deficiency (a rare abnormality) when homozygous and combined with a serious pathogenic variant. The same authors have tested and ruled out a contribution to polycystic ovary syndrome (similar phenotype, more common disease). | 1 |
| 8 | WFS1-R611H | Low | Uncertain | Uncertain not reviewed Recessive, Carrier (Heterozygous) | 0.400446 | This nonsynonymous SNP is associated with Wolfram Syndrome (known as DIDMOAD), which is characterized by early-onset non-autoimmune diabetes mellitus, diabetes insipidus, optic atrophy, and deafness) and to adult Type Two Diabetes Mellitus. The WFS1 gene maps to chromosome 4p16.3. The variant has been shown to be statistically associated with type II diabetes in six UK studies and one study of Ashkenazi Jews (Sandhu, M., et al., Minton et al.). | 1 |
| 9 | ERCC6-R1213G | Low | Uncertain | Uncertain pathogenic Recessive, Carrier (Heterozygous) | 0.196877 | When homozygous, this variant may cause Cockayne Syndrome, which is a severe autosomal-recessive disorder characterized by abnormal early growth and development, abnormal sensitivity to sunlight, and premature aging. Cockayne Syndrome Type I and Type II lead to death in early childhood. Several other variants in the ERCC6 gene are linked to Cockayne Syndrome. This variant may also be linked to age-related macular degeneration like other ERCC6 variants, and has been linked to colorectal cancer in one study. | 1 |
| 10 | SP110-L425S | Low | Uncertain | Uncertain pathogenic Unknown, Homozygous | 0.863357 | This variant is associated with a slightly increased risk of tuberculosis. It is unclear whether it is itself causal, or in linkage disequilibrium with some other causal variant that has a stronger effect. | 1 |
| 11 | rs1544410 | Low | Uncertain | Uncertain pharmacogenetic Unknown, Heterozygous | 0.351562 | rs1544410 is a Vitamin D Receptor (VDR) single nucleotide polymorphism. It is unlikely that it has functional significance because it is located in an intron (Liu et. al.), but it is in strong linkage disequilibrium with rs731236 (Dvornyk et al), which is located in an exon. | 1 |
| 12 | ABCC6-R1268Q | Low | Uncertain | Uncertain pharmacogenetic Unknown, Heterozygous | 0.218907 | This common polymorphism appears to not have a significant phenotypic impact. A few studies report weak but significant associations with plasma lipids (in Inuits) and thalidomide toxicity. | 1 |
| 13 | FUT2-W154X | Moderate | Well-established | Well-established protective Recessive, Homozygous | 0.490519 | This recessive protective variant confers resistance to norovirus (which causes stomach flu). 20% of Caucasians and Africans are homozygous for this variant and are "non-secretors": they do not express ABO blood type antigens in their saliva or mucosal surfaces. Most strains of norovirus bind to these antigens in the gut, and so this non-secretor status confers almost total resistantance to most types of norovirus. There are notable exceptions, some strains of norovirus bind a different target and are equally infectious for secretors and non-secretors. | 1 |
| 14 | PRNP-M129V | Low | Well-established | Well-established protective Complex/Other, Heterozygous | 0.339561 | This variant is associated with some protective effects for prion disease -- individuals homozygous for this variant are less susceptible to Creutzfeldt-Jakob, and Papua New Guinea individuals heterozygotes at this site are less susceptible to kuru. | 1 |
| 15 | CASP10-V410I | Low | Likely | Likely protective Dominant, Heterozygous | 0.0474066 | Reported to have a protective effect on breast cancer. If the lifetime risk of breast cancer is 12%, women with this variant may have a lower risk of 8-9% (30% less than average). | 1 |
| 16 | KCNJ11-K23E | Low | Likely | Likely protective Unknown, Heterozygous | 0.738148 | This variant is associated with decreased risk of type 2 diabetes. It is unclear whether this variant has additive effects, or acts in a dominant or recessive manner. Assuming diabetes has a lifetime risk of 36%, we estimate a decreased risk of around 1-2% per copy of this variant. | 1 |
| 17 | IRS2-G1057D | Low | Uncertain | Uncertain protective Unknown, Heterozygous | 0.232615 | a.k.a Gly1057Asp, insulin receptor substrate-2 IRS2. The rs1805097(G) allele is associated with the Gly, and the (A) allele with Asp. A longevity study concluded that rs1805097(A;A) individuals were about twice as likely to live over 85 y/o (odds ratio 2.03, CI:1.39-2.99, p = .0003). | 1 |
| 18 | LPL-S474X | Low | Uncertain | Uncertain protective Unknown, Heterozygous | 0.0844953 | This variant actually increases LPL enzyme activity despite creating a termination codon (see Rip J et al). It appears to be a protective variant, associated with lower triglyceride levels--although the effect is quite weak and explains only 0.5-1% of triglyceride variation. | 1 |
| 19 | TYR-R402Q | Low | Well-established | Well-established benign Complex/Other, Heterozygous | 0.204964 | This is a frequent pigmentation polymorphism in Europeans that affects function of the Tyrosinase gene. It is associated with blue instead of green eyes and sun sensitivity. For the most part this variant is benign, but many individuals with ocular albinism (which affects only the eyes) carry this variant along with another more severe variant in the same gene. | 1 |
| 20 | GABRD-R220H | Low | Likely | Likely benign Unknown, Heterozygous | 0.0161891 | Probably benign, one report hypothesized this variant was associated with epilepsy, but a follow-up investigation failed to establish any statistically significant difference for this variant's incidence in control vs. affected populations. | 1 |
| 21 | PKHD1-I3905N | Low | Likely | Likely benign Unknown, Heterozygous | 0.048615 | Presumed benign, allele frequency contradicts severe pathogenic effect. | 1 |
| 22 | CACNA1S-L458H | Low | Likely | Likely benign Unknown, Heterozygous | 0.27282 | Common polymorphism | 1 |
| 23 | ADA-K80R | Low | Likely | Likely benign Recessive, Carrier (Heterozygous) | 0.0635806 | This variant has a 3.5% allele frequency in 1000 genomes data. Although OMIM links this to disease, the paper they reference uses in vitro data to conclude that this is a functionally neutral polymorphism. | 1 |
| 24 | CEP290-D664G | Low | Likely | Likely benign Unknown, Heterozygous | 0.00878754 | Reported as a non-pathogenic polymorphism, appears to be more common in East Asians. | 1 |
| 25 | MLH1-I219V | Low | Uncertain | Uncertain benign Dominant, Heterozygous | 0.239822 | Computational evidence, functional assays, and case/control studies suggest this variant is probably benign. | 1 |
| 26 | GALT-N314D | Low | Uncertain | Uncertain benign Unknown, Heterozygous | 0.0716676 | This variant has an allele frequency of ~8% and is ancestral to "Duarte" / "Duarte 2" and "Duarte 1"/"Los Angeles" galactosemia variants. This variant is evolutionarily ancestral, and in vitro studies fail to support an impact of this variant on enzyme activity. Carney et al. instead implicate a 4 base deletion on the 5' of the GALT gene as being causal and linked to this variant. Galactosemia is typically screened and detected in infants and causes early, severe but nonspecific symptoms (digestive problems, lethargy, failure to thrive). | 1 |
| 27 | APOB-Y1422C | Low | Uncertain | Uncertain benign Unknown, Homozygous | 0.999628 | This position is almost certainly an error in the HG18 reference sequence. | 1 |
| 28 | VCAN-T689A | Low | Uncertain | Uncertain benign Unknown, Heterozygous | 0.00644137 | Probably not pathogenic, seen in two healthy PGP participants, contradicting a severe pathogenic effect. | 1 |
| 29 | MAPT-Q230R | Low | Uncertain | Uncertain benign Unknown, Heterozygous | 0.0420019 | Common polymorphism. | 1 |
| 30 | BRCA1-Q356R | Low | Uncertain | Uncertain benign Unknown, Heterozygous | 0.0462911 | One common variant associated this variant with an increased risk of breast cancer, but a more recent, larger study found no association. | 1 |
| 31 | FLG-R3530S | Low | Uncertain | Uncertain benign Unknown, Heterozygous | 0.108849 | Tentatively classified as benign, although predicted by Polyphen 2 to be damaging. Other more severe null mutations (frameshift and nonsense) in this gene are reported to cause ichthyosis vulgaris in a recessive manner. | 1 |
| 32 | PKP2-L366P | Low | Uncertain | Uncertain benign Unknown, Homozygous | 0.221231 | This variant is a benign polymorphism. | 1 |
| 33 | SLC45A2-L374F | Low | Uncertain | Uncertain benign Unknown, Homozygous | 0.691764 | Pigmentation allele for non-black hair, and consequently, possible increased susceptibility to malignant melanoma. | 1 |
| 34 | PHYH-P29S | Low | Uncertain | Uncertain benign Unknown, Heterozygous | 0.155326 | Probably benign. This variant was implicated as causing Refsum Disease in a recessive manner, but a subsequent publication noted that all instances were linked with other explanatory mutations. The high allele frequency of this variant in the population (7-13%) contradicts a pathogenic hypothesis. | 1 |
| 35 | PCSK9-G670E | Low | Uncertain | Uncertain benign Unknown, Homozygous | 0.888269 | This variant is likely benign. | 1 |
| 36 | TPCN2-G734E | Low | Uncertain | Uncertain benign Unknown, Homozygous | 0.286166 | Pigmentation allele. | 1 |
| 37 | RP1-N985Y | Low | Uncertain | Uncertain benign Unknown, Homozygous | 0.348671 | Probably benign. One report linked this variant to high triglycerides, but a later paper found a nearby SNP with similar association and suggests that both findings are caused by linkage to an undiscovered causal variant. | 1 |
| Row number | Variant | Prioritization score | Allele freq | Num of articles | Zygosity and Prioritization Score Reasons | Sufficient |
|---|
Exome coverage: 32941918 / 33282720 = 98.98%
| Row number | Gene | Chromosome | Coverage | Missing | Length | Missing regions |
|---|---|---|---|---|---|---|
| 1 | AGRN | 1 | 0.95731508634734 | 262 | 6138 | 955553, 955557-955562, 955570, 955573-955593, 955596-955597, 955614, 955617-955623, 955642-955643, 955649-955659, 955666-955669, 955735-955753, 976213-976255, 981931, 983501, 983591-983594, 983599, 983603, 983612-983745, 986833-986834 |
| 2 | GABRD | 1 | 0.96100073583517 | 53 | 1359 | 1950863-1950883, 1950893-1950897, 1950900, 1950905-1950930 |
| 3 | NPHP4 | 1 | 0.99859845830413 | 6 | 4281 | 5935155-5935160 |
| 4 | ESPN | 1 | 0.87446393762183 | 322 | 2565 | 6488319-6488336, 6488377-6488392, 6488426-6488432, 6488479, 6500775-6500798, 6500830-6500868, 6501032, 6501097-6501103, 6505726-6505732, 6505776-6505820, 6505851-6505856, 6505888-6505920, 6508727-6508766, 6508828-6508857, 6508882-6508888, 6508922-6508928, 6511703-6511709, 6512127-6512133, 6517244-6517263 |
| 5 | PLEKHG5 | 1 | 0.98243963624961 | 56 | 3189 | 6534111-6534120, 6534133-6534135, 6534511-6534517, 6534520, 6534541-6534557, 6534605, 6534609-6534610, 6534630-6534631, 6534633-6534636, 6534642-6534646, 6557380-6557383 |
| 6 | KIF1B | 1 | 0.99774138904574 | 12 | 5313 | 10425549-10425558, 10425584-10425585 |
| 7 | PEX14 | 1 | 0.99823633156966 | 2 | 1134 | 10684435, 10684446 |
| 8 | TARDBP | 1 | 0.99437751004016 | 7 | 1245 | 11082356-11082362 |
| 9 | CLCNKA | 1 | 0.99515503875969 | 10 | 2064 | 16354391-16354397, 16357147, 16360137, 16360144 |
| 10 | CLCNKB | 1 | 0.98982558139535 | 21 | 2064 | 16373044-16373050, 16378881-16378887, 16383392-16383398 |
| 11 | ATP13A2 | 1 | 0.99745977984759 | 9 | 3543 | 17313329, 17313614, 17322611-17322617 |
| 12 | HSPG2 | 1 | 0.99514268366727 | 64 | 13176 | 22181410, 22263648-22263710 |
| 13 | WNT4 | 1 | 0.92708333333333 | 77 | 1056 | 22469339-22469415 |
| 14 | SEPN1 | 1 | 0.89028776978417 | 183 | 1668 | 26126722-26126904 |
| 15 | KCNQ4 | 1 | 0.99521072796935 | 10 | 2088 | 41284288-41284294, 41284297-41284298, 41284301 |
| 16 | CLDN19 | 1 | 0.99703703703704 | 2 | 675 | 43201565, 43201568 |
| 17 | SLC2A1 | 1 | 0.99932386747803 | 1 | 1479 | 43395424 |
| 18 | MPL | 1 | 0.9979035639413 | 4 | 1908 | 43805648-43805651 |
| 19 | STIL | 1 | 0.99948280320662 | 2 | 3867 | 47726098-47726099 |
| 20 | DHCR24 | 1 | 0.99548678272083 | 7 | 1551 | 55352597-55352599, 55352602-55352603, 55352608-55352609 |
| 21 | PCSK9 | 1 | 0.998556998557 | 3 | 2079 | 55505553-55505555 |
| 22 | ALG6 | 1 | 0.99869281045752 | 2 | 1530 | 63881589, 63881597 |
| 23 | LEPR | 1 | 0.99971412235563 | 1 | 3498 | 66083687 |
| 24 | RPE65 | 1 | 0.99750312109863 | 4 | 1602 | 68905275-68905278 |
| 25 | ACADM | 1 | 0.99687010954617 | 4 | 1278 | 76198359-76198362 |
| 26 | RPL5 | 1 | 0.99328859060403 | 6 | 894 | 93307396-93307398, 93307405, 93307410-93307411 |
| 27 | DPYD | 1 | 0.98213125406108 | 55 | 3078 | 97847949-97847955, 97915723-97915749, 98144675-98144678, 98144682-98144687, 98348840-98348850 |
| 28 | AGL | 1 | 0.99521635138073 | 22 | 4599 | 100377969-100377978, 100377999-100378010 |
| 29 | DBT | 1 | 0.99723947550035 | 4 | 1449 | 100681755, 100701046, 100701056, 100701059 |
| 30 | COL11A1 | 1 | 0.95437053326003 | 249 | 5457 | 103356009, 103356030-103356031, 103356034, 103356047-103356060, 103364222-103364328, 103364497-103364499, 103364512, 103364517-103364527, 103364536-103364543, 103380322-103380329, 103380332-103380335, 103380339, 103380344, 103412457-103412484, 103412507-103412512, 103427769, 103427772-103427775, 103427797-103427798, 103435775-103435776, 103455118, 103455126-103455127, 103470180, 103470182-103470183, 103470192, 103471827-103471832, 103471845-103471862, 103481224, 103481227-103481238 |
| 31 | NGF | 1 | 0.99449035812672 | 4 | 726 | 115828719-115828722 |
| 32 | CASQ2 | 1 | 0.99833333333333 | 2 | 1200 | 116244024-116244025 |
| 33 | NOTCH2 | 1 | 0.98557173678533 | 107 | 7416 | 120539665-120539714, 120539742, 120539778-120539784, 120539913-120539919, 120539933-120539955, 120548025, 120548030, 120548051, 120548055, 120548091-120548097, 120572547, 120572572, 120572609-120572610, 120611964, 120612003-120612004, 120612006 |
| 34 | PRPF3 | 1 | 0.99805068226121 | 4 | 2052 | 150316972-150316975 |
| 35 | FLG | 1 | 0.9411619891679 | 717 | 12186 | 152276114, 152276277-152276285, 152276374-152276389, 152276441-152276471, 152276487-152276529, 152276583, 152276598, 152276616, 152276626-152276628, 152276656-152276674, 152276696-152276742, 152277011-152277058, 152277083-152277089, 152277717, 152277881-152277887, 152278018-152278052, 152278083-152278115, 152278385-152278415, 152278431-152278437, 152278555, 152278689, 152278811-152278817, 152278853-152278879, 152278986-152279022, 152279055-152279087, 152279381-152279409, 152279524-152279530, 152280347, 152280468-152280474, 152280556-152280562, 152280570-152280617, 152280682-152280694, 152280733-152280762, 152280782, 152280788, 152280900, 152281007-152281008, 152281039, 152281225-152281231, 152281287-152281307, 152281520-152281537, 152281872-152281878, 152284149-152284155, 152284200-152284212, 152285185-152285233 |
| 36 | PKLR | 1 | 0.99304347826087 | 12 | 1725 | 155269979-155269981, 155269987-155269995 |
| 37 | LMNA | 1 | 0.97354497354497 | 15 | 567 | 156105077-156105091 |
| 38 | LMNA | 1 | 0.99248120300752 | 15 | 1995 | 156105077-156105091 |
| 39 | F5 | 1 | 0.98397003745318 | 107 | 6675 | 169510269-169510296, 169510337-169510343, 169510364-169510389, 169510475, 169510502, 169510515, 169510524, 169510608-169510642, 169511596-169511602 |
| 40 | HMCN1 | 1 | 0.99887627158741 | 19 | 16908 | 185833636-185833648, 185932976, 186034476-186034479, 186094890 |
| 41 | PDC | 1 | 0.99730094466937 | 2 | 741 | 186418580, 186418583 |
| 42 | CFH | 1 | 0.99837662337662 | 6 | 3696 | 196658726-196658728, 196658744, 196659203, 196659339 |
| 43 | CFHR5 | 1 | 0.99122807017544 | 15 | 1710 | 196953133, 196953137-196953150 |
| 44 | ASPM | 1 | 0.99693310331608 | 32 | 10434 | 197055933-197055936, 197055940-197055943, 197069719-197069728, 197101465-197101478 |
| 45 | USH2A | 1 | 0.99955154077776 | 7 | 15609 | 215823954, 215916534-215916539 |
| 46 | GJC2 | 1 | 0.96439393939394 | 47 | 1320 | 228345585, 228345692, 228346060, 228346067-228346068, 228346107-228346108, 228346127-228346140, 228346146-228346155, 228346161, 228346387-228346401 |
| 47 | ACTA1 | 1 | 0.98589065255732 | 16 | 1134 | 229567917-229567932 |
| 48 | LYST | 1 | 0.99298614764159 | 80 | 11406 | 235875357-235875361, 235875452, 235875464-235875467, 235875470, 235875473-235875497, 235896808-235896811, 235896819, 235896822-235896843, 235896846, 235940422-235940424, 235944238-235944240, 235944273-235944274, 235950546-235950552, 235950556 |
| 49 | RYR2 | 1 | 0.99624261943103 | 56 | 14904 | 237821244-237821281, 237821286, 237821290-237821296, 237821306-237821313, 237821322, 237824210 |
| 50 | FH | 1 | 0.99869536855838 | 2 | 1533 | 241669380-241669381 |
| 51 | GATA3 | 10 | 0.98576779026217 | 19 | 1335 | 8097650-8097668 |
| 52 | OPTN | 10 | 0.99942329873126 | 1 | 1734 | 13174162 |
| 53 | CUBN | 10 | 0.99990802060338 | 1 | 10872 | 17142071 |
| 54 | MYO3A | 10 | 0.99773242630385 | 11 | 4851 | 26243839-26243848, 26491942 |
| 55 | PDSS1 | 10 | 0.99919871794872 | 1 | 1248 | 26994221 |
| 56 | RET | 10 | 0.97997010463378 | 67 | 3345 | 43572707-43572773 |
| 57 | CHAT | 10 | 0.93769470404984 | 140 | 2247 | 50822275-50822411, 50822415, 50822419, 50822422 |
| 58 | PCDH15 | 10 | 0.9969434538971 | 18 | 5889 | 55587198-55587200, 55587218, 55719557, 55782814-55782820, 56128974-56128977, 56138671, 56138675 |
| 59 | PRF1 | 10 | 0.99940047961631 | 1 | 1668 | 72358283 |
| 60 | VCL | 10 | 0.99911894273128 | 3 | 3405 | 75874621-75874623 |
| 61 | BMPR1A | 10 | 0.99562226391495 | 7 | 1599 | 88683143-88683149 |
| 62 | PTEN | 10 | 0.9950495049505 | 6 | 1212 | 89693003, 89720651-89720652, 89725227-89725229 |
| 63 | PAX2 | 10 | 0.99923017705928 | 1 | 1299 | 102509529 |
| 64 | SUFU | 10 | 0.99450171821306 | 8 | 1455 | 104263996-104264003 |
| 65 | COL17A1 | 10 | 0.99888740542946 | 5 | 4494 | 105816811-105816814, 105816821 |
| 66 | EMX2 | 10 | 0.99604743083004 | 3 | 759 | 119302825-119302827 |
| 67 | BAG3 | 10 | 0.9994212962963 | 1 | 1728 | 121436745 |
| 68 | HTRA1 | 10 | 0.95911295911296 | 59 | 1443 | 124221169-124221223, 124221226, 124221248, 124221252, 124221280 |
| 69 | ACADSB | 10 | 0.99076212471132 | 12 | 1299 | 124802615-124802625, 124810592 |
| 70 | SLC25A22 | 11 | 0.97530864197531 | 24 | 972 | 792619-792642 |
| 71 | PNPLA2 | 11 | 0.99471947194719 | 8 | 1515 | 819719-819721, 819730-819733, 824015 |
| 72 | CTSD | 11 | 0.99677158999193 | 4 | 1239 | 1785063-1785066 |
| 73 | CDKN1C | 11 | 0.92218717139853 | 74 | 951 | 2905946, 2905951, 2905953, 2905966, 2905970, 2905973, 2906037-2906039, 2906061-2906064, 2906069-2906070, 2906073-2906079, 2906091-2906096, 2906102-2906127, 2906131-2906138, 2906141, 2906161-2906171 |
| 74 | HBD | 11 | 0.98423423423423 | 7 | 444 | 5255652-5255658 |
| 75 | SMPD1 | 11 | 0.99947257383966 | 1 | 1896 | 6411935 |
| 76 | USH1C | 11 | 0.99296296296296 | 19 | 2700 | 17531107-17531118, 17531307-17531313 |
| 77 | ANO5 | 11 | 0.95915390226112 | 112 | 2742 | 22249052-22249058, 22276952-22276953, 22276964, 22276967-22277068 |
| 78 | PDHX | 11 | 0.99933598937583 | 1 | 1506 | 35013916 |
| 79 | ALX4 | 11 | 0.99514563106796 | 6 | 1236 | 44331162, 44331284-44331288 |
| 80 | SLC22A12 | 11 | 0.99759326113117 | 4 | 1662 | 64367266-64367268, 64367272 |
| 81 | AIP | 11 | 0.99798590130916 | 2 | 993 | 67257559, 67257562 |
| 82 | LRP5 | 11 | 0.99174917491749 | 40 | 4848 | 68080212-68080250, 68207369 |
| 83 | DHCR7 | 11 | 0.99439775910364 | 8 | 1428 | 71146577-71146584 |
| 84 | MYO7A | 11 | 0.99939831528279 | 4 | 6648 | 76922292-76922295 |
| 85 | FZD4 | 11 | 0.99938042131351 | 1 | 1614 | 86666081 |
| 86 | DYNC2H1 | 11 | 0.9837775202781 | 210 | 12945 | 102984304-102984308, 102984315, 102984318-102984324, 102991456, 102991499-102991501, 102991514-102991531, 103006262, 103006506-103006513, 103029406-103029412, 103029455-103029458, 103029469, 103043817-103043825, 103043832-103043846, 103043881, 103043968-103043969, 103044021, 103052558, 103052565-103052568, 103055728, 103059226-103059232, 103059248-103059269, 103059297-103059308, 103059318, 103070130, 103082606-103082609, 103082644-103082672, 103090717-103090731, 103107159-103107160, 103191867-103191880, 103270565-103270577 |
| 87 | ATM | 11 | 0.98124522952786 | 172 | 9171 | 108098371-108098375, 108098503-108098510, 108098529-108098571, 108126955-108127067, 108172394, 108196149, 108202215 |
| 88 | ALG9 | 11 | 0.989651416122 | 19 | 1836 | 111742114, 111742120-111742137 |
| 89 | DLAT | 11 | 0.98868312757202 | 22 | 1944 | 111899560-111899563, 111899568-111899578, 111910016-111910022 |
| 90 | CACNA2D4 | 12 | 0.99882835383714 | 4 | 3414 | 1902902-1902904, 1904930 |
| 91 | CACNA1C | 12 | 0.99893308946807 | 7 | 6561 | 2794934-2794940 |
| 92 | VWF | 12 | 0.97085998578536 | 246 | 8442 | 6122647-6122650, 6125338-6125344, 6125718-6125753, 6127532-6127538, 6127637-6127661, 6127782-6127788, 6127865-6127881, 6127940-6127946, 6128067, 6128076, 6128081, 6128084, 6128093, 6128167-6128173, 6128297-6128303, 6128339-6128357, 6128544-6128560, 6128630-6128636, 6128784-6128790, 6131925-6131932, 6131955-6131982, 6132003-6132033 |
| 93 | ATN1 | 12 | 0.98992443324937 | 36 | 3573 | 7045591, 7045892-7045909, 7045914-7045930 |
| 94 | AICDA | 12 | 0.99832495812395 | 1 | 597 | 8757888 |
| 95 | GYS2 | 12 | 0.98863636363636 | 24 | 2112 | 21712025-21712034, 21712045-21712052, 21712068, 21712073-21712077 |
| 96 | ABCC9 | 12 | 0.99935483870968 | 3 | 4650 | 22061145, 22063767, 22063816 |
| 97 | FGD4 | 12 | 0.9986962190352 | 3 | 2301 | 32778588-32778590 |
| 98 | KIF21A | 12 | 0.99578820697954 | 21 | 4986 | 39709038-39709042, 39720118-39720125, 39735910-39735917 |
| 99 | LRRK2 | 12 | 0.98615506329114 | 105 | 7584 | 40634390, 40653293-40653311, 40653319-40653324, 40713878, 40761457, 40761472-40761548 |
| 100 | IRAK4 | 12 | 0.99710773680405 | 4 | 1383 | 44167827-44167830 |
| 101 | MLL2 | 12 | 0.99548573492235 | 75 | 16614 | 49426587-49426593, 49426596, 49426599, 49426605, 49426677, 49426709, 49426746, 49426749-49426755, 49427009-49427016, 49427251-49427297 |
| 102 | TUBA1A | 12 | 0.96491228070175 | 16 | 456 | 49522235-49522241, 49522341-49522347, 49522578, 49522605 |
| 103 | KRT81 | 12 | 0.98616600790514 | 21 | 1518 | 52682999-52683005, 52684021-52684027, 52684950-52684956 |
| 104 | KRT86 | 12 | 0.98836413415469 | 17 | 1461 | 52695997, 52696927-52696933, 52697952, 52699030-52699036, 52699548 |
| 105 | KRT83 | 12 | 0.99932523616734 | 1 | 1482 | 52710279 |
| 106 | KRT6B | 12 | 0.9787610619469 | 36 | 1695 | 52843578-52843584, 52843635, 52844342-52844348, 52845432-52845438, 52845571-52845577, 52845798-52845804 |
| 107 | KRT6C | 12 | 0.9905604719764 | 16 | 1695 | 52867094, 52867105, 52867230-52867236, 52867457-52867463 |
| 108 | KRT6A | 12 | 0.98702064896755 | 22 | 1695 | 52882264-52882270, 52885494, 52886681-52886687, 52886908-52886914 |
| 109 | KRT5 | 12 | 0.94359842075578 | 100 | 1773 | 52908743-52908761, 52908891-52908971 |
| 110 | KRT1 | 12 | 0.97726098191214 | 44 | 1935 | 53069117-53069139, 53072495-53072513, 53072516-53072517 |
| 111 | GNS | 12 | 0.97950572634117 | 34 | 1659 | 65141509-65141522, 65141662-65141681 |
| 112 | LEMD3 | 12 | 0.99926900584795 | 2 | 2736 | 65612379, 65612398 |
| 113 | CEP290 | 12 | 0.99180107526882 | 61 | 7440 | 88443053, 88443074, 88443082, 88462325, 88462350, 88472962-88472969, 88472974, 88472984, 88490716, 88505505, 88513898, 88514001, 88522743, 88522773-88522805, 88530535-88530537, 88530542-88530545, 88530560 |
| 114 | SLC25A3 | 12 | 0.99908172635445 | 1 | 1089 | 98994964 |
| 115 | SYCP3 | 12 | 0.9985935302391 | 1 | 711 | 102125399 |
| 116 | ATXN2 | 12 | 0.97184170471842 | 111 | 3942 | 111894019, 112036742-112036809, 112036867-112036894, 112036921-112036922, 112036929-112036930, 112036934-112036943 |
| 117 | PTPN11 | 12 | 0.99943883277217 | 1 | 1782 | 112891190 |
| 118 | TBX5 | 12 | 0.99486191393706 | 8 | 1557 | 114793480-114793487 |
| 119 | SACS | 13 | 0.99985443959243 | 2 | 13740 | 23908628-23908629 |
| 120 | BRCA2 | 13 | 0.99980501121186 | 2 | 10257 | 32920970, 32921033 |
| 121 | RB1 | 13 | 0.98744169357732 | 35 | 2787 | 48921976-48921977, 48921993, 48923127, 48941678-48941704, 48947579-48947580, 48947628, 49051533 |
| 122 | EDNRB | 13 | 0.98269375470278 | 23 | 1329 | 78474656-78474666, 78474734-78474740, 78475226-78475230 |
| 123 | SLITRK1 | 13 | 0.99904351984696 | 2 | 2091 | 84453774, 84453777 |
| 124 | GPC6 | 13 | 0.99760191846523 | 4 | 1668 | 94197519-94197522 |
| 125 | ZIC2 | 13 | 0.96998123827392 | 48 | 1599 | 100635014-100635016, 100637740, 100637812, 100637816-100637858 |
| 126 | PCCA | 13 | 0.99862825788752 | 3 | 2187 | 100909912-100909914 |
| 127 | ERCC5 | 13 | 0.99952819061099 | 2 | 4239 | 103520575-103520576 |
| 128 | PABPN1 | 14 | 0.89033659066232 | 101 | 921 | 23790679-23790682, 23790698, 23790701-23790709, 23790716, 23790854-23790857, 23790862-23790863, 23790870-23790871, 23790902-23790910, 23790929-23790932, 23790948-23791012 |
| 129 | MYH7 | 14 | 0.99879476584022 | 7 | 5808 | 23889395-23889401 |
| 130 | NRL | 14 | 0.98739495798319 | 9 | 714 | 24550658-24550666 |
| 131 | PCK2 | 14 | 0.99947997919917 | 1 | 1923 | 24568260 |
| 132 | FOXG1 | 14 | 0.80612244897959 | 285 | 1470 | 29236666-29236950 |
| 133 | FANCM | 14 | 0.99316739873109 | 42 | 6147 | 45623941, 45623951-45623964, 45623968-45623981, 45623986-45623997, 45667875 |
| 134 | ATL1 | 14 | 0.99097472924188 | 15 | 1662 | 51089948-51089962 |
| 135 | SYNE2 | 14 | 0.9982628836132 | 36 | 20724 | 64428314-64428325, 64457778-64457782, 64460553-64460554, 64488121, 64522768-64522771, 64542694-64542705 |
| 136 | ZFYVE26 | 14 | 0.9998687664042 | 1 | 7620 | 68244319 |
| 137 | FLVCR2 | 14 | 0.98861480075901 | 18 | 1581 | 76045497-76045514 |
| 138 | ESRRB | 14 | 0.99934512115259 | 1 | 1527 | 76964697 |
| 139 | POMT2 | 14 | 0.99778073679538 | 5 | 2253 | 77786867-77786871 |
| 140 | VIPAR | 14 | 0.99122807017544 | 13 | 1482 | 77894723-77894726, 77894751-77894758, 77894761 |
| 141 | GALC | 14 | 0.99902818270165 | 2 | 2058 | 88434730, 88448556 |
| 142 | SPATA7 | 14 | 0.99555555555556 | 8 | 1800 | 88859789-88859792, 88859803, 88859812, 88883149, 88883155 |
| 143 | TTC8 | 14 | 0.99547803617571 | 7 | 1548 | 89305810, 89337900-89337901, 89343652, 89343663, 89343669, 89343717 |
| 144 | ATXN3 | 14 | 0.95764272559853 | 46 | 1086 | 92537352-92537385, 92559596-92559605, 92559633-92559634 |
| 145 | VRK1 | 14 | 0.96389588581024 | 43 | 1191 | 97304106-97304111, 97304119-97304120, 97304132-97304154, 97326953-97326964 |
| 146 | AMN | 14 | 0.98531571218796 | 20 | 1362 | 103396602-103396618, 103396625, 103396631, 103396647 |
| 147 | INF2 | 14 | 0.93253333333333 | 253 | 3750 | 105173759-105173771, 105173774-105173777, 105173780-105173783, 105173863-105173874, 105173907-105174126 |
| 148 | NIPA1 | 15 | 0.82020202020202 | 178 | 990 | 23086234-23086411 |
| 149 | SNRPN | 15 | 0.99861687413555 | 1 | 723 | 25222965 |
| 150 | OCA2 | 15 | 0.99920540325785 | 2 | 2517 | 28273163-28273164 |
| 151 | TRPM1 | 15 | 0.99875311720698 | 6 | 4812 | 31320556-31320561 |
| 152 | CHST14 | 15 | 0.9893899204244 | 12 | 1131 | 40763524-40763533, 40763572, 40763578 |
| 153 | TTBK2 | 15 | 0.99866131191432 | 5 | 3735 | 43067851-43067852, 43067855-43067856, 43109272 |
| 154 | STRC | 15 | 0.97766516516517 | 119 | 5328 | 43896303-43896312, 43897536-43897561, 43900150-43900156, 43907744-43907751, 43908070-43908087, 43910436-43910444, 43910863-43910903 |
| 155 | STRC | 15 | 0.98666666666667 | 26 | 1950 | 44007206-44007213, 44007532-44007549 |
| 156 | SPG11 | 15 | 0.99959083469722 | 3 | 7332 | 44918575-44918577 |
| 157 | FBN1 | 15 | 0.99837511606314 | 14 | 8616 | 48729519-48729522, 48729527, 48737592-48737595, 48737602, 48737618-48737619, 48737632, 48784737 |
| 158 | CEP152 | 15 | 0.99818731117825 | 9 | 4965 | 49061268-49061275, 49073406 |
| 159 | SCG3 | 15 | 0.99928926794598 | 1 | 1407 | 51974726 |
| 160 | PPIB | 15 | 0.99539170506912 | 3 | 651 | 64455134-64455135, 64455145 |
| 161 | HCN4 | 15 | 0.99584717607973 | 15 | 3612 | 73614895-73614904, 73614915-73614916, 73614924-73614926 |
| 162 | FANCI | 15 | 0.99699021820918 | 12 | 3987 | 89826425-89826436 |
| 163 | POLG | 15 | 0.99220430107527 | 29 | 3720 | 89876818-89876840, 89876846-89876847, 89876849-89876852 |
| 164 | MESP2 | 15 | 0.97654941373534 | 28 | 1194 | 90320121-90320146, 90320149, 90320161 |
| 165 | BLM | 15 | 0.99976492712741 | 1 | 4254 | 91337540 |
| 166 | IGF1R | 15 | 0.99707602339181 | 12 | 4104 | 99473497-99473500, 99473512-99473519 |
| 167 | HBZ | 16 | 0.98834498834499 | 5 | 429 | 204274-204278 |
| 168 | GFER | 16 | 0.99514563106796 | 3 | 618 | 2034226-2034228 |
| 169 | PKD1 | 16 | 0.95709417596035 | 554 | 12912 | 2141061-2141089, 2147191-2147196, 2149757-2149763, 2149961-2149972, 2150518, 2152384-2152392, 2153278-2153323, 2153592-2153598, 2153711-2153741, 2154602-2154620, 2154630-2154637, 2155423-2155469, 2155906-2155912, 2155981-2155987, 2156018-2156025, 2156241-2156247, 2156442-2156462, 2156480-2156500, 2156520-2156526, 2156808-2156820, 2158419, 2158746-2158752, 2159144-2159150, 2159403-2159410, 2159960-2159999, 2160718-2160724, 2160769-2160775, 2160970-2160976, 2162361, 2164171-2164178, 2166976-2166982, 2167848-2167877, 2167952-2167975, 2167989-2168000, 2168069-2168075, 2168212, 2169165-2169186, 2169365-2169379, 2185561, 2185662-2185690 |
| 170 | CREBBP | 16 | 0.99208623277391 | 58 | 7329 | 3778426, 3778428-3778430, 3778441-3778447, 3778451, 3778454, 3779081, 3779254-3779267, 3779343, 3779351-3779354, 3779460-3779484 |
| 171 | GLIS2 | 16 | 0.99936507936508 | 1 | 1575 | 4387398 |
| 172 | ALG1 | 16 | 0.95698924731183 | 60 | 1395 | 5121883-5121903, 5128857, 5130969-5130999, 5132600-5132606 |
| 173 | OTOA | 16 | 0.99795321637427 | 7 | 3420 | 21742176-21742182 |
| 174 | SCNN1B | 16 | 0.99791991679667 | 4 | 1923 | 23359953-23359956 |
| 175 | PALB2 | 16 | 0.99971918000562 | 1 | 3561 | 23637688 |
| 176 | CLN3 | 16 | 0.98481397114655 | 20 | 1317 | 28497686-28497705 |
| 177 | TUFM | 16 | 0.99926900584795 | 1 | 1368 | 28857564 |
| 178 | ATP2A1 | 16 | 0.9940119760479 | 18 | 3006 | 28912134-28912148, 28912155-28912156, 28912159 |
| 179 | PHKG2 | 16 | 0.97624897624898 | 29 | 1221 | 30760142-30760170 |
| 180 | FUS | 16 | 0.99683744465528 | 5 | 1581 | 31195689-31195693 |
| 181 | NOD2 | 16 | 0.99871918027538 | 4 | 3123 | 50733668-50733671 |
| 182 | CYLD | 16 | 0.99685534591195 | 9 | 2862 | 50783821-50783824, 50785756-50785760 |
| 183 | SALL1 | 16 | 0.99723270440252 | 11 | 3975 | 51175652, 51175656-51175658, 51175662-51175666, 51175669, 51175677 |
| 184 | RPGRIP1L | 16 | 0.9918946301925 | 32 | 3948 | 53672252, 53672264, 53672279, 53672297, 53672300-53672303, 53672318-53672323, 53686619-53686636 |
| 185 | HSD11B2 | 16 | 0.92036124794745 | 97 | 1218 | 67465212-67465300, 67465307-67465313, 67469989 |
| 186 | LCAT | 16 | 0.98337112622827 | 22 | 1323 | 67973976-67973981, 67977007-67977022 |
| 187 | CDH1 | 16 | 0.99962249905625 | 1 | 2649 | 68771360 |
| 188 | COG8 | 16 | 0.9994562262099 | 1 | 1839 | 69373235 |
| 189 | HP | 16 | 0.99426699426699 | 7 | 1221 | 72094376-72094382 |
| 190 | MLYCD | 16 | 0.9608636977058 | 58 | 1482 | 83932819, 83932834-83932836, 83932850-83932856, 83932859-83932890, 83933091, 83933094-83933098, 83933101-83933109 |
| 191 | LRRC50 | 16 | 0.99954086317723 | 1 | 2178 | 84199447 |
| 192 | FOXF1 | 16 | 0.99912280701754 | 1 | 1140 | 86544205 |
| 193 | CYBA | 16 | 0.98639455782313 | 8 | 588 | 88709821-88709822, 88709825-88709830 |
| 194 | SPG7 | 16 | 0.99497487437186 | 12 | 2388 | 89579413-89579424 |
| 195 | GP1BA | 17 | 0.9984375 | 3 | 1920 | 4835939, 4837104-4837105 |
| 196 | PITPNM3 | 17 | 0.9965811965812 | 10 | 2925 | 6358707-6358715, 6358844 |
| 197 | GUCY2D | 17 | 0.9981884057971 | 6 | 3312 | 7906414, 7906475, 7906478-7906481 |
| 198 | HES7 | 17 | 0.93657817109145 | 43 | 678 | 8024958, 8024999-8025004, 8025009, 8025017, 8025661-8025679, 8025697-8025711 |
| 199 | MYH8 | 17 | 0.99776401788786 | 13 | 5814 | 10293795, 10307676-10307687 |
| 200 | MYH2 | 17 | 0.9989701338826 | 6 | 5826 | 10446436-10446440, 10446450 |
| 201 | MYH3 | 17 | 0.99982826721621 | 1 | 5823 | 10534935 |
| 202 | ELAC2 | 17 | 0.99637243047158 | 9 | 2481 | 12896189-12896197 |
| 203 | COX10 | 17 | 0.99924924924925 | 1 | 1332 | 14095309 |
| 204 | RAI1 | 17 | 0.99405698304492 | 34 | 5721 | 17697093-17697099, 17697102-17697128 |
| 205 | MYO15A | 17 | 0.9951854998584 | 51 | 10593 | 18024021-18024045, 18024052-18024055, 18024386, 18024399-18024401, 18025059, 18049320-18049321, 18057178, 18057187-18057188, 18070935, 18070952-18070962 |
| 206 | UNC119 | 17 | 0.91839557399723 | 59 | 723 | 26879393-26879402, 26879412-26879419, 26879426-26879427, 26879440-26879443, 26879454, 26879506-26879539 |
| 207 | NF1 | 17 | 0.98861502347418 | 97 | 8520 | 29422328-29422342, 29422359-29422362, 29422368-29422374, 29422376, 29422381, 29422384-29422387, 29550573-29550585, 29556221-29556236, 29586050-29586084, 29679280 |
| 208 | KRT10 | 17 | 0.92820512820513 | 126 | 1755 | 38975122-38975133, 38975205-38975248, 38975273-38975342 |
| 209 | KRT9 | 17 | 0.99946581196581 | 1 | 1872 | 39726472 |
| 210 | KRT14 | 17 | 0.99506694855532 | 7 | 1419 | 39743030-39743036 |
| 211 | KRT16 | 17 | 0.9901547116737 | 14 | 1422 | 39767609-39767615, 39768490-39768496 |
| 212 | KRT17 | 17 | 0.99384141647421 | 8 | 1299 | 39776932-39776939 |
| 213 | STAT5B | 17 | 0.99576988155668 | 10 | 2364 | 40371359-40371363, 40371367-40371371 |
| 214 | BRCA1 | 17 | 0.99946949602122 | 3 | 5655 | 41228609-41228611 |
| 215 | SLC4A1 | 17 | 0.9952485380117 | 13 | 2736 | 42328911-42328923 |
| 216 | MAPT | 17 | 0.999570999571 | 1 | 2331 | 44073816 |
| 217 | COL1A1 | 17 | 0.99226393629124 | 34 | 4395 | 48265936-48265969 |
| 218 | TRIM37 | 17 | 0.99585492227979 | 12 | 2895 | 57105909-57105920 |
| 219 | BRIP1 | 17 | 0.9992 | 3 | 3750 | 59793319, 59793322-59793323 |
| 220 | ACE | 17 | 0.99234889058914 | 30 | 3921 | 61554481-61554490, 61554496, 61554498-61554502, 61554505-61554511, 61574583-61574589 |
| 221 | AXIN2 | 17 | 0.989336492891 | 27 | 2532 | 63533729-63533755 |
| 222 | SOX9 | 17 | 0.99673202614379 | 5 | 1530 | 70119980-70119983, 70120081 |
| 223 | COG1 | 17 | 0.99592252803262 | 12 | 2943 | 71189243-71189246, 71189251, 71189256-71189262 |
| 224 | ITGB4 | 17 | 0.9983543609435 | 9 | 5469 | 73751785-73751793 |
| 225 | UNC13D | 17 | 0.99908340971586 | 3 | 3273 | 73832750-73832752 |
| 226 | SEPT9 | 17 | 0.92277115275412 | 136 | 1761 | 75494605-75494740 |
| 227 | SGSH | 17 | 0.99005964214712 | 15 | 1509 | 78194074-78194087, 78194094 |
| 228 | FSCN2 | 17 | 0.99932386747803 | 1 | 1479 | 79503222 |
| 229 | NDUFV2 | 18 | 0.99466666666667 | 4 | 750 | 9124930-9124933 |
| 230 | LAMA3 | 18 | 0.99910017996401 | 9 | 10002 | 21483943, 21483946-21483953 |
| 231 | DSC3 | 18 | 0.9866220735786 | 36 | 2691 | 28584225-28584233, 28605793-28605804, 28622612-28622626 |
| 232 | DSC2 | 18 | 0.99889135254989 | 3 | 2706 | 28669463, 28669472-28669473 |
| 233 | MYO5B | 18 | 0.99332972778078 | 37 | 5547 | 47352944-47352980 |
| 234 | SMAD4 | 18 | 0.95298372513562 | 78 | 1659 | 48593408-48593439, 48593475-48593482, 48603036-48603073 |
| 235 | ATP8B1 | 18 | 0.99920127795527 | 3 | 3756 | 55328527-55328529 |
| 236 | LMAN1 | 18 | 0.99347684279191 | 10 | 1533 | 57000458-57000467 |
| 237 | TNFRSF11A | 18 | 0.98163155051324 | 34 | 1851 | 59992589, 59992595, 59992604-59992611, 59992614-59992636, 59992639 |
| 238 | ELANE | 19 | 0.82338308457711 | 142 | 804 | 853262-853403 |
| 239 | KISS1R | 19 | 0.95071010860485 | 59 | 1197 | 920320-920322, 920326-920328, 920335, 920344, 920346-920352, 920377-920395, 920401-920425 |
| 240 | MAP2K2 | 19 | 0.92352452202826 | 92 | 1203 | 4123781-4123872 |
| 241 | INSR | 19 | 0.99831284646903 | 7 | 4149 | 7293863-7293869 |
| 242 | PNPLA6 | 19 | 0.99598393574297 | 16 | 3984 | 7619506-7619521 |
| 243 | PRKCSH | 19 | 0.99117832388154 | 14 | 1587 | 11558341-11558343, 11558508-11558511, 11558523-11558526, 11558537-11558539 |
| 244 | CACNA1A | 19 | 0.9936178699641 | 48 | 7521 | 13318562-13318565, 13318671-13318694, 13319692-13319694, 13616935, 13616939-13616946, 13616954-13616961 |
| 245 | NOTCH3 | 19 | 0.99813379270744 | 13 | 6966 | 15281315, 15281329-15281330, 15288806, 15311625-15311629, 15311642-15311644, 15311650 |
| 246 | JAK3 | 19 | 0.98874074074074 | 38 | 3375 | 17940919-17940923, 17940931-17940936, 17940955-17940957, 17940960-17940966, 17941366, 17954694-17954709 |
| 247 | COMP | 19 | 0.99824098504837 | 4 | 2274 | 18900791-18900793, 18900815 |
| 248 | CEBPA | 19 | 0.94986072423398 | 54 | 1077 | 33792755-33792757, 33793006-33793012, 33793015, 33793021-33793024, 33793030, 33793033-33793038, 33793157-33793172, 33793213, 33793223, 33793229-33793242 |
| 249 | SCN1B | 19 | 0.95043370508055 | 40 | 807 | 35521725-35521764 |
| 250 | PRODH2 | 19 | 0.991930477964 | 13 | 1611 | 36303316-36303328 |
| 251 | WDR62 | 19 | 0.99912510936133 | 4 | 4572 | 36591726-36591729 |
| 252 | RYR1 | 19 | 0.99927234239598 | 11 | 15117 | 38998425-38998428, 39009986-39009989, 39055829, 39055843-39055844 |
| 253 | ACTN4 | 19 | 0.99817251461988 | 5 | 2736 | 39138521, 39138541-39138544 |
| 254 | PRX | 19 | 0.9813041495668 | 82 | 4386 | 40901320-40901328, 40909631-40909666, 40909683-40909689, 40909714-40909722, 40909728-40909730, 40909751-40909768 |
| 255 | TGFB1 | 19 | 0.99914748508099 | 1 | 1173 | 41854247 |
| 256 | ATP1A3 | 19 | 0.99918433931485 | 3 | 3678 | 42480602-42480603, 42480606 |
| 257 | BCAM | 19 | 0.9872813990461 | 24 | 1887 | 45312400-45312402, 45312418-45312435, 45321861-45321863 |
| 258 | DMPK | 19 | 0.97248677248677 | 52 | 1890 | 46285537, 46285550-46285554, 46285563-46285608 |
| 259 | FKRP | 19 | 0.99596774193548 | 6 | 1488 | 47259660, 47259673-47259677 |
| 260 | DBP | 19 | 0.98773006134969 | 12 | 978 | 49138837-49138838, 49138842-49138847, 49138858-49138859, 49138949-49138950 |
| 261 | MED25 | 19 | 0.99866310160428 | 3 | 2244 | 50333138, 50335410, 50335414 |
| 262 | MYH14 | 19 | 0.99541809851088 | 28 | 6111 | 50766590-50766597, 50770216-50770229, 50770232-50770237 |
| 263 | KCNC3 | 19 | 0.82629727352683 | 395 | 2274 | 50823503-50823595, 50826459, 50831501-50831504, 50831531, 50831551, 50831560, 50831563-50831571, 50831580-50831584, 50831709-50831712, 50831790, 50831793, 50831809-50831817, 50831852-50831885, 50831901-50831945, 50831953-50831957, 50831963, 50831967-50831973, 50831975, 50831987, 50831991, 50832033-50832035, 50832140, 50832143-50832144, 50832147, 50832152, 50832158-50832160, 50832181-50832339 |
| 264 | PRKCG | 19 | 0.97659980897803 | 49 | 2094 | 54393185-54393200, 54393206-54393229, 54393237-54393240, 54401315-54401319 |
| 265 | NLRP7 | 19 | 0.99518304431599 | 15 | 3114 | 55435109-55435123 |
| 266 | KLF11 | 2 | 0.98635477582846 | 21 | 1539 | 10183865-10183885 |
| 267 | OTOF | 2 | 0.98331664998332 | 100 | 5994 | 26699759-26699852, 26699880, 26699893-26699896, 26700115 |
| 268 | ALK | 2 | 0.99979436561793 | 1 | 4863 | 29451784 |
| 269 | SPAST | 2 | 0.88060507833603 | 221 | 1851 | 32289008-32289023, 32289065, 32289082-32289094, 32289102-32289124, 32289129-32289133, 32289140-32289142, 32289147-32289174, 32289180, 32289183-32289190, 32289197-32289247, 32289250-32289254, 32340771-32340786, 32340823-32340872, 32341199 |
| 270 | LRPPRC | 2 | 0.99713261648746 | 12 | 4185 | 44206965-44206975, 44209377 |
| 271 | MSH2 | 2 | 0.99893048128342 | 3 | 2805 | 47639640, 47641550, 47641557 |
| 272 | LHCGR | 2 | 0.99761904761905 | 5 | 2100 | 48982764-48982767, 48982771 |
| 273 | EFEMP1 | 2 | 0.96761133603239 | 48 | 1482 | 56102087, 56102094, 56102099-56102100, 56102106-56102135, 56102144-56102152, 56102157-56102160, 56102180 |
| 274 | MCEE | 2 | 0.99435028248588 | 3 | 531 | 71337203-71337205 |
| 275 | ALMS1 | 2 | 0.99296225207933 | 88 | 12504 | 73612997-73613011, 73613019-73613074, 73784391-73784393, 73784403-73784408, 73827996-73828002, 73828342 |
| 276 | SLC4A5 | 2 | 0.99970708845929 | 1 | 3414 | 74479407 |
| 277 | HTRA2 | 2 | 0.99927378358751 | 1 | 1377 | 74757144 |
| 278 | SUCLG1 | 2 | 0.98655139289145 | 14 | 1041 | 84668426-84668432, 84668565-84668571 |
| 279 | SFTPB | 2 | 0.99912739965096 | 1 | 1146 | 85892793 |
| 280 | REEP1 | 2 | 0.94719471947195 | 32 | 606 | 86564602-86564633 |
| 281 | EIF2AK3 | 2 | 0.99880632646971 | 4 | 3351 | 88887540, 88926730-88926732 |
| 282 | RANBP2 | 2 | 0.9646511627907 | 342 | 9675 | 109347929-109347930, 109352023-109352029, 109352639, 109357109-109357116, 109363167-109363195, 109368074-109368110, 109374915, 109378620-109378643, 109383052-109383058, 109383268-109383289, 109383315-109383321, 109383638-109383678, 109383768-109383798, 109383822-109383828, 109383885-109383891, 109383932-109383938, 109384393-109384442, 109384597-109384634, 109384807-109384822 |
| 283 | NPHP1 | 2 | 0.99852507374631 | 3 | 2034 | 110917741, 110917748, 110922659 |
| 284 | MERTK | 2 | 0.99366666666667 | 19 | 3000 | 112656316, 112656319-112656320, 112656323-112656328, 112656335-112656341, 112722768-112722770 |
| 285 | GLI2 | 2 | 0.99390884268011 | 29 | 4761 | 121555022-121555029, 121746150, 121746154-121746156, 121746162-121746168, 121746175-121746176, 121746179-121746184, 121746255-121746256 |
| 286 | CFC1 | 2 | 0.9985119047619 | 1 | 672 | 131285318 |
| 287 | RAB3GAP1 | 2 | 0.9979633401222 | 6 | 2946 | 135815600-135815605 |
| 288 | ZEB2 | 2 | 0.99945130315501 | 2 | 3645 | 145147382-145147383 |
| 289 | NEB | 2 | 0.99158906578552 | 168 | 19974 | 152359372-152359378, 152382718, 152382727-152382730, 152402512, 152417802, 152432688-152432709, 152432724-152432727, 152432729-152432738, 152432755-152432803, 152432808, 152432813-152432819, 152432824-152432832, 152432841-152432845, 152482082-152482127, 152511816 |
| 290 | SCN2A | 2 | 0.99950149551346 | 3 | 6018 | 166171987, 166237671-166237672 |
| 291 | SCN1A | 2 | 0.99899949974987 | 6 | 5997 | 166905396-166905401 |
| 292 | SCN9A | 2 | 0.99831479609033 | 10 | 5934 | 167060940, 167083078, 167094669-167094676 |
| 293 | ABCB11 | 2 | 0.99899142713061 | 4 | 3966 | 169851907-169851910 |
| 294 | AGPS | 2 | 0.94992412746586 | 99 | 1977 | 178326621-178326625, 178326694, 178346787-178346798, 178346805, 178346808-178346814, 178346837-178346880, 178362465-178362493 |
| 295 | TTN | 2 | 0.99980049477296 | 20 | 100248 | 179392346, 179523794-179523802, 179538382, 179543156, 179543173, 179559398-179559400, 179580242-179580243, 179617906-179617907 |
| 296 | CERKL | 2 | 0.99374609130707 | 10 | 1599 | 182438487-182438491, 182438497-182438498, 182438514-182438516 |
| 297 | COL3A1 | 2 | 0.98273119745512 | 76 | 4401 | 189850403-189850427, 189850437-189850456, 189854154, 189856923-189856924, 189860457, 189871664-189871681, 189871684, 189872612-189872619 |
| 298 | COL5A2 | 2 | 0.998 | 9 | 4500 | 189916904, 189917482-189917489 |
| 299 | PMS1 | 2 | 0.98892461593426 | 31 | 2799 | 190656620-190656631, 190718724, 190718732, 190718743-190718749, 190718754, 190718780, 190719271-190719278 |
| 300 | STAT1 | 2 | 0.99689303151354 | 7 | 2253 | 191862964-191862970 |
| 301 | HSPD1 | 2 | 0.98954703832753 | 18 | 1722 | 198351826-198351843 |
| 302 | ALS2 | 2 | 0.99155609167672 | 42 | 4974 | 202571661-202571695, 202622430-202622436 |
| 303 | BMPR2 | 2 | 0.99871671478986 | 4 | 3117 | 203378485-203378487, 203395621 |
| 304 | NDUFS1 | 2 | 0.99954212454212 | 1 | 2184 | 206988943 |
| 305 | FASTKD2 | 2 | 0.99906235349273 | 2 | 2133 | 207652661-207652662 |
| 306 | CPS1 | 2 | 0.99977792582723 | 1 | 4503 | 211460211 |
| 307 | ABCA12 | 2 | 0.99807395993837 | 15 | 7788 | 215797413, 215797419-215797425, 215798875, 215798882-215798886, 215835095 |
| 308 | SMARCAL1 | 2 | 0.9979057591623 | 6 | 2865 | 217347564-217347569 |
| 309 | OBSL1 | 2 | 0.99033561764189 | 55 | 5691 | 220435405-220435407, 220435714-220435720, 220435735-220435779 |
| 310 | COL4A4 | 2 | 0.9966429699842 | 17 | 5064 | 227919418-227919431, 227942711, 227942715, 227942732 |
| 311 | COL6A3 | 2 | 0.99916089783931 | 8 | 9534 | 238250795-238250798, 238296816-238296819 |
| 312 | C20orf54 | 20 | 0.98510638297872 | 21 | 1410 | 744354-744374 |
| 313 | AVP | 20 | 0.88686868686869 | 56 | 495 | 3063334-3063357, 3063623-3063625, 3063725, 3063763, 3063788-3063814 |
| 314 | FERMT1 | 20 | 0.99950835791544 | 1 | 2034 | 6088221 |
| 315 | C20orf7 | 20 | 0.99229287090559 | 8 | 1038 | 13797585-13797592 |
| 316 | SNTA1 | 20 | 0.99538866930171 | 7 | 1518 | 32031221, 32031390-32031395 |
| 317 | CTSA | 20 | 0.99799599198397 | 3 | 1497 | 44520248, 44520251-44520252 |
| 318 | STX16 | 20 | 0.99897750511247 | 1 | 978 | 57246323 |
| 319 | CHRNA4 | 20 | 0.99309978768577 | 13 | 1884 | 61992465-61992467, 61992472-61992481 |
| 320 | SOX18 | 20 | 0.67878787878788 | 371 | 1155 | 62680157, 62680163-62680174, 62680512-62680869 |
| 321 | BACH1 | 21 | 0.99683401175938 | 7 | 2211 | 30693762-30693768 |
| 322 | IFNGR2 | 21 | 0.94280078895464 | 58 | 1014 | 34775850-34775880, 34775883-34775891, 34775901, 34775904-34775909, 34775912-34775922 |
| 323 | CLDN14 | 21 | 0.97361111111111 | 19 | 720 | 37833812-37833830 |
| 324 | HLCS | 21 | 0.99679046309033 | 7 | 2181 | 38309515-38309521 |
| 325 | AIRE | 21 | 0.997557997558 | 4 | 1638 | 45713052-45713055 |
| 326 | COL6A1 | 21 | 0.98801425332038 | 37 | 3087 | 47401775-47401810, 47422550 |
| 327 | COL6A2 | 21 | 0.99444444444444 | 17 | 3060 | 47531447-47531463 |
| 328 | FTCD | 21 | 0.99938499384994 | 1 | 1626 | 47565746 |
| 329 | PCNT | 21 | 0.99860153830786 | 14 | 10011 | 47801642-47801654, 47858097 |
| 330 | PRODH | 22 | 0.98946200776484 | 19 | 1803 | 18900750, 18908902, 18910414-18910416, 18923545, 18923550-18923552, 18923567-18923575, 18923585 |
| 331 | GP1BB | 22 | 0.99194847020934 | 5 | 621 | 19711723, 19711826, 19711854-19711856 |
| 332 | TBX1 | 22 | 0.88306451612903 | 174 | 1488 | 19748428-19748600, 19753993 |
| 333 | CHEK2 | 22 | 0.9511641113004 | 86 | 1761 | 29083906-29083927, 29083948-29083965, 29085165-29085171, 29090027-29090057, 29091837-29091844 |
| 334 | NF2 | 22 | 0.99776286353468 | 4 | 1788 | 30074307, 30074310-30074312 |
| 335 | MYH9 | 22 | 0.99983001869794 | 1 | 5883 | 36688100 |
| 336 | TRIOBP | 22 | 0.96379261763877 | 257 | 7098 | 38119745, 38119749-38119757, 38119763, 38119766-38119767, 38119771, 38119798-38119804, 38119856-38119862, 38119879-38119921, 38120030-38120068, 38120079-38120109, 38120154, 38120176-38120178, 38120225-38120233, 38120297-38120346, 38120373-38120400, 38120417-38120440, 38120483 |
| 337 | EP300 | 22 | 0.99986197377502 | 1 | 7245 | 41574173 |
| 338 | TNFRSF13C | 22 | 0.9963963963964 | 2 | 555 | 42322321, 42322678 |
| 339 | CYB5R3 | 22 | 0.98344370860927 | 15 | 906 | 43045302, 43045308-43045321 |
| 340 | MLC1 | 22 | 0.97354497354497 | 30 | 1134 | 50502589-50502618 |
| 341 | TYMP | 22 | 0.99102829537612 | 13 | 1449 | 50964708, 50964714-50964723, 50964903-50964904 |
| 342 | ARSA | 22 | 0.99540682414698 | 7 | 1524 | 51063654-51063660 |
| 343 | SHANK3 | 22 | 0.83180778032037 | 882 | 5244 | 51113070-51113132, 51135951-51136143, 51158738-51159202, 51159452, 51159459, 51159464, 51159468-51159471, 51169434, 51169437, 51169480-51169482, 51169488, 51169491-51169502, 51169506-51169511, 51169514, 51169517-51169519, 51169522-51169645, 51169660-51169661 |
| 344 | FANCD2 | 3 | 0.98165760869565 | 81 | 4416 | 10081511-10081522, 10088264-10088311, 10107165-10107171, 10114941-10114947, 10115015-10115021 |
| 345 | SCN5A | 3 | 0.99677364578027 | 19 | 5889 | 38628994-38629012 |
| 346 | TREX1 | 3 | 0.98648648648649 | 15 | 1110 | 48508070-48508084 |
| 347 | COL7A1 | 3 | 0.99988681380872 | 1 | 8835 | 48627113 |
| 348 | RFT1 | 3 | 0.99938499384994 | 1 | 1626 | 53156400 |
| 349 | HESX1 | 3 | 0.9820788530466 | 10 | 558 | 57232230-57232239 |
| 350 | FLNB | 3 | 0.9996158278909 | 3 | 7809 | 58062877, 58062889-58062890 |
| 351 | PDHB | 3 | 0.99537037037037 | 5 | 1080 | 58414270-58414273, 58416538 |
| 352 | ATXN7 | 3 | 0.88935870331219 | 314 | 2838 | 63898275-63898339, 63898346-63898404, 63898410-63898599 |
| 353 | ROBO2 | 3 | 0.99782451051487 | 9 | 4137 | 77530341-77530349 |
| 354 | GBE1 | 3 | 0.96633475580844 | 71 | 2109 | 81754616, 81754637, 81754690-81754754, 81754761-81754764 |
| 355 | PROS1 | 3 | 0.9699655342196 | 61 | 2031 | 93595877, 93595906-93595911, 93595917-93595925, 93595944-93595947, 93595974-93595976, 93595980, 93595990-93595995, 93596003-93596013, 93605250, 93615456-93615467, 93617388-93617394 |
| 356 | ARL13B | 3 | 0.97824397824398 | 28 | 1287 | 93761900, 93768260-93768286 |
| 357 | ARL6 | 3 | 0.99643493761141 | 2 | 561 | 97503825, 97503856 |
| 358 | UMPS | 3 | 0.999306999307 | 1 | 1443 | 124462895 |
| 359 | RHO | 3 | 0.99904489016237 | 1 | 1047 | 129251520 |
| 360 | NPHP3 | 3 | 0.96193338342099 | 152 | 3993 | 132406045-132406056, 132416152, 132432087-132432088, 132438549-132438674, 132441007-132441017 |
| 361 | PCCB | 3 | 0.99753086419753 | 4 | 1620 | 136048795-136048797, 136048801 |
| 362 | FOXL2 | 3 | 0.97789566755084 | 25 | 1131 | 138664841, 138664863, 138664866-138664869, 138664873, 138664876-138664884, 138664889-138664897 |
| 363 | PLOD2 | 3 | 0.97364953886693 | 60 | 2277 | 145802978, 145803031, 145804625-145804682 |
| 364 | IFT80 | 3 | 0.99570446735395 | 10 | 2328 | 159995409-159995410, 160037562-160037569 |
| 365 | SOX2 | 3 | 0.9979035639413 | 2 | 954 | 181430369, 181431010 |
| 366 | MCCC1 | 3 | 0.99724517906336 | 6 | 2178 | 182769996-182769997, 182770006-182770009 |
| 367 | CLDN16 | 3 | 0.99782135076253 | 2 | 918 | 190106171-190106172 |
| 368 | OPA1 | 3 | 0.99376640419948 | 19 | 3048 | 193355033-193355050, 193363392 |
| 369 | IDUA | 4 | 0.9954128440367 | 9 | 1962 | 980893-980899, 996634, 996637 |
| 370 | SH3BP2 | 4 | 0.99946149703823 | 1 | 1857 | 2819978 |
| 371 | HTT | 4 | 0.9916215929579 | 79 | 9429 | 3076605-3076675, 3076681, 3076693-3076696, 3105605, 3213806, 3227419 |
| 372 | DOK7 | 4 | 0.98481848184818 | 23 | 1515 | 3465256-3465278 |
| 373 | EVC | 4 | 0.99966431688486 | 1 | 2979 | 5809934 |
| 374 | CC2D2A | 4 | 0.99958873123586 | 2 | 4863 | 15591262-15591263 |
| 375 | QDPR | 4 | 0.99727891156463 | 2 | 735 | 17506091, 17513664 |
| 376 | CNGA1 | 4 | 0.90614035087719 | 214 | 2280 | 47954613-47954716, 47972949, 47972968, 47972974, 47972982, 47972991-47973040, 47973051-47973082, 47973094-47973117 |
| 377 | SGCB | 4 | 0.99164054336468 | 8 | 957 | 52890238, 52895901-52895907 |
| 378 | SLC4A4 | 4 | 0.99695585996956 | 10 | 3285 | 72306443, 72306446, 72332188-72332194, 72352697 |
| 379 | ALB | 4 | 0.9792349726776 | 38 | 1830 | 74279285-74279322 |
| 380 | COQ2 | 4 | 0.9991341991342 | 1 | 1155 | 84193258 |
| 381 | PKD2 | 4 | 0.99415204678363 | 17 | 2907 | 88928943-88928952, 88929004-88929010 |
| 382 | SNCA | 4 | 0.95981087470449 | 17 | 423 | 90749300-90749302, 90749308, 90749325-90749328, 90749331-90749333, 90756702-90756707 |
| 383 | MTTP | 4 | 0.99888268156425 | 3 | 2685 | 100521826-100521828 |
| 384 | CISD2 | 4 | 0.95588235294118 | 18 | 408 | 103808512-103808522, 103808569-103808575 |
| 385 | CFI | 4 | 0.99885844748858 | 2 | 1752 | 110723115, 110723127 |
| 386 | PITX2 | 4 | 0.9825641025641 | 17 | 975 | 111542457-111542473 |
| 387 | ANK2 | 4 | 0.99839986525181 | 19 | 11874 | 114117541, 114117544-114117547, 114161676, 114257891-114257903 |
| 388 | BBS7 | 4 | 0.96322160148976 | 79 | 2148 | 122766811-122766813, 122775880-122775927, 122775942-122775946, 122775956-122775975, 122782740-122782741, 122782779 |
| 389 | MFSD8 | 4 | 0.99935773924213 | 1 | 1557 | 128878663 |
| 390 | LRAT | 4 | 0.98556998556999 | 10 | 693 | 155670228-155670237 |
| 391 | GLRB | 4 | 0.9665327978581 | 50 | 1494 | 158041708-158041753, 158041806-158041809 |
| 392 | ETFDH | 4 | 0.99784250269687 | 4 | 1854 | 159616748-159616751 |
| 393 | GK | 4 | 0.99037304452467 | 16 | 1662 | 166199146, 166199346-166199352, 166199426-166199432, 166199763 |
| 394 | SDHA | 5 | 0.92982456140351 | 140 | 1995 | 223682-223683, 224475, 224633, 228309, 228393-228399, 231002, 231005, 236650-236684, 240521-240527, 251108-251114, 251190-251214, 251466-251506, 254526-254532, 254574, 254599, 256472, 256509 |
| 395 | TERT | 5 | 0.99529273315681 | 16 | 3399 | 1295033-1295036, 1295078-1295082, 1295092-1295093, 1295096-1295100 |
| 396 | SDHA | 5 | 0.96941896024465 | 10 | 327 | 1593258-1593267 |
| 397 | DNAH5 | 5 | 0.99207207207207 | 110 | 13875 | 13721295-13721306, 13810212, 13810297, 13862738, 13862743, 13883042-13883048, 13916457-13916543 |
| 398 | SLC45A2 | 5 | 0.99748901443817 | 4 | 1593 | 33984447-33984450 |
| 399 | NIPBL | 5 | 0.9807486631016 | 162 | 8415 | 37016235-37016237, 37036481-37036589, 37048636-37048680, 37048697-37048698, 37048701-37048702, 37048716 |
| 400 | LIFR | 5 | 0.97662416514876 | 77 | 3294 | 38482691-38482699, 38482710-38482751, 38482761-38482769, 38490373-38490374, 38490390, 38506008, 38506012-38506013, 38506017, 38506042-38506048, 38510647-38510649 |
| 401 | OXCT1 | 5 | 0.97056941778631 | 46 | 1563 | 41862759-41862794, 41862797-41862803, 41862850-41862852 |
| 402 | ITGA2 | 5 | 0.99887196841512 | 4 | 3546 | 52285334-52285336, 52322674 |
| 403 | NDUFS4 | 5 | 0.96780303030303 | 17 | 528 | 52942083-52942084, 52942087-52942096, 52942100, 52942106-52942109 |
| 404 | ERCC8 | 5 | 0.98320738874895 | 20 | 1191 | 60186731-60186738, 60198305-60198315, 60200652 |
| 405 | NDUFAF2 | 5 | 0.97843137254902 | 11 | 510 | 60394823-60394826, 60448650-60448656 |
| 406 | SMN2 | 5 | 0.99887005649718 | 1 | 885 | 69362949 |
| 407 | SMN2 | 5 | 0.99887005649718 | 1 | 885 | 70238373 |
| 408 | MCCC2 | 5 | 0.99527186761229 | 8 | 1692 | 70895502-70895509 |
| 409 | AP3B1 | 5 | 0.99482496194825 | 17 | 3285 | 77311234, 77311365, 77412011, 77412016-77412021, 77424956, 77425009-77425013, 77536717, 77536720 |
| 410 | RASA1 | 5 | 0.94942748091603 | 159 | 3144 | 86633886, 86669980-86670137 |
| 411 | MEF2C | 5 | 0.9915611814346 | 12 | 1422 | 88024310, 88024362, 88024382-88024383, 88024389, 88024429-88024435 |
| 412 | GPR98 | 5 | 0.99598329897997 | 76 | 18921 | 89933599-89933605, 89972010, 90006798, 90020716, 90025513-90025524, 90049640-90049646, 90052821-90052843, 90074796, 90124807, 90124810, 90144575-90144590, 90144599-90144603 |
| 413 | WDR36 | 5 | 0.99404761904762 | 17 | 2856 | 110432778-110432788, 110432802-110432804, 110436341, 110436345, 110436359 |
| 414 | APC | 5 | 0.99812470698547 | 16 | 8532 | 112102907, 112102910, 112102926-112102928, 112102944-112102949, 112111336, 112128195, 112128202, 112175656-112175657 |
| 415 | HSD17B4 | 5 | 0.99728629579376 | 6 | 2211 | 118814529-118814530, 118861670-118861673 |
| 416 | HSD17B4 | 5 | 0.98581560283688 | 4 | 282 | 118861670-118861673 |
| 417 | FBN2 | 5 | 0.98912919098295 | 95 | 8739 | 127614431-127614456, 127614472, 127645688-127645689, 127645695-127645696, 127645704, 127645712, 127645722, 127681153, 127681183, 127702070-127702123, 127863651-127863655 |
| 418 | MYOT | 5 | 0.97327989311957 | 40 | 1497 | 137221758-137221777, 137221790-137221797, 137221829, 137221837-137221843, 137221857-137221860 |
| 419 | MATR3 | 5 | 0.99528301886792 | 12 | 2544 | 138643432-138643443 |
| 420 | DIAPH1 | 5 | 0.99842890809112 | 6 | 3819 | 140953564-140953569 |
| 421 | GM2A | 5 | 0.97250859106529 | 16 | 582 | 150646949-150646964 |
| 422 | NIPAL4 | 5 | 0.98857958600999 | 16 | 1401 | 156898679-156898694 |
| 423 | NKX2-5 | 5 | 0.99897435897436 | 1 | 975 | 172661876 |
| 424 | GRM6 | 5 | 0.99962034927866 | 1 | 2634 | 178421862 |
| 425 | FOXC1 | 6 | 0.99939831528279 | 1 | 1662 | 1611698 |
| 426 | DTNBP1 | 6 | 0.99242424242424 | 8 | 1056 | 15663066, 15663070-15663073, 15663098-15663100 |
| 427 | ATXN1 | 6 | 0.96323529411765 | 90 | 2448 | 16327819-16327833, 16327862-16327885, 16327892-16327937, 16327946-16327950 |
| 428 | ALDH5A1 | 6 | 0.99210686095932 | 13 | 1647 | 24533735-24533747 |
| 429 | HLA-H | 6 | 0.95466666666667 | 34 | 750 | 29855764, 29856303, 29856318, 29856345-29856347, 29856353, 29856368, 29856397, 29856406, 29856516, 29856593-29856614, 29856643 |
| 430 | TNXB | 6 | 0.94297563504406 | 110 | 1929 | 31976916, 31976926, 31977145, 31977167, 31977387-31977395, 31977528, 31977548, 31977786-31977792, 31977824-31977830, 31977994-31978002, 31978498-31978527, 31978782-31978815, 31979501-31979508 |
| 431 | CYP21A2 | 6 | 0.94623655913978 | 80 | 1488 | 32006200-32006234, 32007404-32007410, 32007843-32007850, 32007884-32007890, 32008195-32008201, 32008451, 32008893-32008907 |
| 432 | TNXB | 6 | 0.99025846492262 | 124 | 12729 | 32009648-32009664, 32009877-32009905, 32010122-32010130, 32010279-32010289, 32010520-32010526, 32010558-32010564, 32010728-32010736, 32011232-32011251, 32012355-32012362, 32029366-32029372 |
| 433 | HLA-DQA1 | 6 | 0.9140625 | 66 | 768 | 32605288-32605291, 32609946-32609977, 32610002, 32610009, 32610387-32610406, 32610445, 32610461-32610462, 32610495, 32610513, 32610534-32610535, 32610538 |
| 434 | HLA-DQB1 | 6 | 0.735368956743 | 208 | 786 | 32629124-32629174, 32629199, 32629224-32629234, 32629764, 32629767, 32629809, 32629847, 32629859, 32629955, 32632575-32632656, 32632680-32632695, 32632700, 32632703-32632710, 32632714-32632728, 32632733, 32632736, 32632738-32632741, 32632751-32632758, 32634318, 32634331, 32634373 |
| 435 | COL11A2 | 6 | 0.99788908079064 | 11 | 5211 | 33140079-33140082, 33140096, 33140131-33140135, 33140140 |
| 436 | SYNGAP1 | 6 | 0.9360119047619 | 258 | 4032 | 33388042-33388108, 33393598-33393647, 33393654-33393680, 33410906-33410909, 33411511-33411521, 33411524, 33411540-33411550, 33411557-33411595, 33411608, 33411615-33411653, 33411660-33411666, 33419616 |
| 437 | RUNX2 | 6 | 0.96934865900383 | 48 | 1566 | 45390442-45390488, 45390502 |
| 438 | CD2AP | 6 | 0.996875 | 6 | 1920 | 47563647-47563652 |
| 439 | MUT | 6 | 0.96759875721261 | 73 | 2253 | 49409553-49409583, 49409594-49409599, 49409603-49409617, 49409625-49409640, 49421350, 49421387, 49421448, 49421467, 49423866 |
| 440 | PKHD1 | 6 | 0.99934560327198 | 8 | 12225 | 51497367-51497368, 51497378, 51497381-51497385 |
| 441 | EYS | 6 | 0.99448860625331 | 52 | 9435 | 65146126, 65523288, 65523294-65523296, 65523303, 65523312, 65523332-65523346, 65523427, 65596658-65596661, 65596673-65596678, 66005888, 66053997-66054003, 66063356-66063359, 66200580-66200586 |
| 442 | LMBRD1 | 6 | 0.99938385705484 | 1 | 1623 | 70447837 |
| 443 | RIMS1 | 6 | 0.99527466036621 | 24 | 5079 | 72945326, 72945422, 72945425, 72968814, 73023306-73023310, 73108723, 73108746-73108751, 73108753, 73108760-73108766 |
| 444 | SLC17A5 | 6 | 0.99395161290323 | 9 | 1488 | 74354160, 74354255-74354262 |
| 445 | MYO6 | 6 | 0.99144634525661 | 33 | 3858 | 76532543-76532546, 76532555, 76558139-76558153, 76589655-76589666, 76623803 |
| 446 | LCA5 | 6 | 0.99952244508118 | 1 | 2094 | 80196761 |
| 447 | BCKDHB | 6 | 0.99491094147583 | 6 | 1179 | 80881049, 80881059, 80881062-80881065 |
| 448 | SIM1 | 6 | 0.99521946979574 | 11 | 2301 | 100838459-100838469 |
| 449 | PDSS2 | 6 | 0.99833333333333 | 2 | 1200 | 107595307-107595308 |
| 450 | SEC63 | 6 | 0.99912395970215 | 2 | 2283 | 108215042-108215043 |
| 451 | OSTM1 | 6 | 0.98208955223881 | 18 | 1005 | 108372285-108372302 |
| 452 | FIG4 | 6 | 0.99669603524229 | 9 | 2724 | 110048424-110048431, 110081475 |
| 453 | LAMA2 | 6 | 0.99412581437573 | 55 | 9363 | 129381026-129381029, 129663506, 129670459-129670508 |
| 454 | ENPP1 | 6 | 0.98236141108711 | 49 | 2778 | 132129186, 132171184, 132203485-132203487, 132203498-132203500, 132203562-132203602 |
| 455 | EYA4 | 6 | 0.9984375 | 3 | 1920 | 133767858, 133767861, 133777730 |
| 456 | PEX7 | 6 | 0.98456790123457 | 15 | 972 | 137167227, 137167233-137167234, 137167278-137167284, 137167290-137167292, 137167294, 137167303 |
| 457 | SYNE1 | 6 | 0.99821929226339 | 47 | 26394 | 152542672-152542679, 152599295-152599296, 152630988, 152698022-152698032, 152730760-152730761, 152774727, 152774743-152774750, 152774766, 152819877-152819884, 152819896-152819900 |
| 458 | TBP | 6 | 0.92843137254902 | 73 | 1020 | 170871022-170871035, 170871039-170871046, 170871049, 170871055, 170871059-170871065, 170871068-170871109 |
| 459 | LFNG | 7 | 0.86929824561404 | 149 | 1140 | 2559496-2559548, 2559559-2559585, 2559595-2559626, 2559654, 2559658-2559677, 2559683-2559694, 2559889-2559892 |
| 460 | PMS2 | 7 | 0.99613750482812 | 10 | 2589 | 6029443-6029445, 6029450-6029456 |
| 461 | TWIST1 | 7 | 0.74384236453202 | 156 | 609 | 19156762-19156765, 19156793-19156944 |
| 462 | DNAH11 | 7 | 0.99167403477748 | 113 | 13572 | 21629001, 21630602-21630640, 21630906-21630950, 21893950-21893977 |
| 463 | HOXA13 | 7 | 0.86632390745501 | 156 | 1167 | 27239306-27239310, 27239316, 27239326-27239329, 27239332-27239382, 27239388-27239392, 27239404-27239448, 27239454-27239456, 27239535, 27239538-27239575, 27239579-27239581 |
| 464 | BBS9 | 7 | 0.99061561561562 | 25 | 2664 | 33303932, 33303935, 33303940-33303946, 33303971-33303986 |
| 465 | TXNDC3 | 7 | 0.99886813808715 | 2 | 1767 | 37916535-37916536 |
| 466 | CCM2 | 7 | 0.97752808988764 | 30 | 1335 | 45039933-45039962 |
| 467 | ASL | 7 | 0.99928315412186 | 1 | 1395 | 65553855 |
| 468 | KCTD7 | 7 | 0.99770114942529 | 2 | 870 | 66094177, 66094180 |
| 469 | NCF1 | 7 | 0.96727272727273 | 27 | 825 | 72639983-72639989, 72643704-72643723 |
| 470 | ELN | 7 | 0.99540229885057 | 10 | 2175 | 73442543-73442547, 73442559-73442563 |
| 471 | NCF1 | 7 | 0.97527706734868 | 29 | 1173 | 74193668, 74197385-74197404, 74197911-74197917, 74203007 |
| 472 | HSPB1 | 7 | 0.99352750809061 | 4 | 618 | 75932268-75932271 |
| 473 | CD36 | 7 | 0.99154334038055 | 12 | 1419 | 80285897-80285908 |
| 474 | HGF | 7 | 0.99771376314586 | 5 | 2187 | 81399254-81399255, 81399267-81399269 |
| 475 | AKAP9 | 7 | 0.99573524394405 | 50 | 11724 | 91609608-91609640, 91609646-91609647, 91682232-91682234, 91707159, 91714900-91714904, 91714909-91714911, 91727093-91727095 |
| 476 | KRIT1 | 7 | 0.9932157394844 | 15 | 2211 | 91867035, 91867047-91867048, 91867055, 91867058-91867066, 91867072-91867073 |
| 477 | PEX1 | 7 | 0.99584631360332 | 16 | 3852 | 92123890-92123894, 92134100-92134102, 92134116-92134122, 92134126 |
| 478 | COL1A2 | 7 | 0.99390392587174 | 25 | 4101 | 94027695, 94030915-94030924, 94030927, 94049910-94049911, 94049918-94049921, 94058704, 94058719-94058723, 94058739 |
| 479 | SLC26A5 | 7 | 0.99194630872483 | 18 | 2235 | 103017277-103017279, 103017287-103017290, 103017299-103017309 |
| 480 | RELN | 7 | 0.99903633034596 | 10 | 10377 | 103193978-103193985, 103417011, 103417014 |
| 481 | DLD | 7 | 0.99869281045752 | 2 | 1530 | 107555990, 107555993 |
| 482 | CFTR | 7 | 0.9628629304524 | 165 | 4443 | 117188713-117188753, 117188760-117188800, 117188840-117188853, 117234984, 117234987, 117235004-117235012, 117235015-117235024, 117235031, 117235035-117235036, 117235038-117235045, 117235055-117235059, 117235081-117235112 |
| 483 | AASS | 7 | 0.9920891765552 | 22 | 2781 | 121755187-121755191, 121755200, 121755206, 121769546-121769547, 121769561, 121769564-121769571, 121769575, 121769584-121769585, 121769590 |
| 484 | IMPDH1 | 7 | 0.99833333333333 | 3 | 1800 | 128049841-128049843 |
| 485 | ATP6V0A4 | 7 | 0.96195005945303 | 96 | 2523 | 138394369-138394449, 138394456-138394468, 138394490-138394491 |
| 486 | BRAF | 7 | 0.99608865710561 | 9 | 2301 | 140477825, 140624404-140624409, 140624413-140624414 |
| 487 | PRSS1 | 7 | 0.84543010752688 | 115 | 744 | 142458434-142458454, 142458483-142458514, 142459625-142459629, 142459676-142459682, 142459863-142459878, 142460335, 142460339, 142460366-142460397 |
| 488 | KCNH2 | 7 | 0.95890804597701 | 143 | 3480 | 150644699-150644733, 150644744-150644750, 150644756, 150644766-150644767, 150644772-150644775, 150644780-150644783, 150644795-150644810, 150648896, 150648900-150648901, 150648910, 150671858-150671894, 150674969-150675001 |
| 489 | SHH | 7 | 0.99856011519078 | 2 | 1389 | 155595797-155595798 |
| 490 | MNX1 | 7 | 0.89883913764511 | 122 | 1206 | 156799267-156799285, 156799289, 156802654-156802750, 156802902, 156802905-156802907, 156802942 |
| 491 | TUSC3 | 8 | 0.99808978032474 | 2 | 1047 | 15480595, 15480607 |
| 492 | FGFR1 | 8 | 0.99878197320341 | 3 | 2463 | 38285914-38285916 |
| 493 | ADAM9 | 8 | 0.99715447154472 | 7 | 2460 | 38959424-38959425, 38959433, 38959438, 38959441-38959443 |
| 494 | THAP1 | 8 | 0.99376947040498 | 4 | 642 | 42693232, 42693237-42693239 |
| 495 | HGSNAT | 8 | 0.99109014675052 | 17 | 1908 | 42995700-42995713, 42995716-42995718 |
| 496 | CHD7 | 8 | 0.99933288859239 | 6 | 8994 | 61734583-61734588 |
| 497 | EYA1 | 8 | 0.99494097807757 | 9 | 1779 | 72246387-72246395 |
| 498 | CNGB3 | 8 | 0.99958847736626 | 1 | 2430 | 87656893 |
| 499 | DECR1 | 8 | 0.99900793650794 | 1 | 1008 | 91057154 |
| 500 | TMEM67 | 8 | 0.98627844712182 | 41 | 2988 | 94777666-94777698, 94784871, 94805507-94805508, 94805517-94805520, 94827546 |
| 501 | VPS13B | 8 | 0.99408037352009 | 71 | 11994 | 100123339-100123344, 100123348, 100123353-100123357, 100123366-100123369, 100123383-100123387, 100123390, 100123393-100123419, 100123430-100123435, 100123441-100123444, 100123449-100123452, 100123479, 100123500, 100146896, 100513974, 100514056, 100654166, 100844597-100844598 |
| 502 | TRPS1 | 8 | 0.9958815958816 | 16 | 3885 | 116426972-116426984, 116631959-116631961 |
| 503 | KIAA0196 | 8 | 0.99913793103448 | 3 | 3480 | 126044564, 126044569, 126079870 |
| 504 | KCNQ3 | 8 | 0.98930889652539 | 28 | 2619 | 133492567-133492589, 133492650, 133492747-133492749, 133492761 |
| 505 | TG | 8 | 0.99987961959793 | 1 | 8307 | 133882071 |
| 506 | CYP11B1 | 8 | 0.95502645502646 | 68 | 1512 | 143956533-143956542, 143957128-143957132, 143958512-143958533, 143958572-143958602 |
| 507 | CYP11B2 | 8 | 0.98082010582011 | 29 | 1512 | 143993988-143993994, 143994026-143994032, 143994069-143994081, 143996539, 143996553 |
| 508 | PLEC | 8 | 0.9937388829598 | 88 | 14055 | 144994370, 144994386-144994387, 144996220-144996286, 144996374-144996381, 144997099-144997101, 144997894-144997895, 145003582-145003584, 145003828-145003829 |
| 509 | GPT | 8 | 0.99195171026157 | 12 | 1491 | 145731282, 145731285-145731286, 145731297, 145731301, 145731304-145731310 |
| 510 | RECQL4 | 8 | 0.99972429004687 | 1 | 3627 | 145738809 |
| 511 | DOCK8 | 9 | 0.99809523809524 | 12 | 6300 | 332441, 452048-452058 |
| 512 | KCNV2 | 9 | 0.99328449328449 | 11 | 1638 | 2718730-2718733, 2718763-2718766, 2718966-2718968 |
| 513 | JAK2 | 9 | 0.98117093262724 | 64 | 3399 | 5077453-5077460, 5077469-5077475, 5077484-5077521, 5089797-5089807 |
| 514 | CDKN2A | 9 | 0.97892720306513 | 11 | 522 | 21994283-21994293 |
| 515 | VCP | 9 | 0.99917389508468 | 2 | 2421 | 35059712-35059713 |
| 516 | TRPM6 | 9 | 0.99983522820893 | 1 | 6069 | 77390890 |
| 517 | VPS13A | 9 | 0.98057742782152 | 185 | 9525 | 79820309-79820324, 79824339, 79824388, 79824396, 79824402, 79824448, 79840888, 79841419-79841438, 79843053, 79843058, 79843062, 79843137, 79896783-79896842, 79897177-79897190, 79910621, 79928911, 79928930-79928932, 79928980, 79932585-79932592, 79932605-79932614, 79933153, 79934495, 79946933, 79946942-79946958, 79946974-79946975, 79946981-79946983, 79946985-79946988, 79946999-79947001, 79996944-79996947, 79996957, 79996961-79996963, 79997003 |
| 518 | PTCH1 | 9 | 0.99976979742173 | 1 | 4344 | 98270643 |
| 519 | FOXE1 | 9 | 0.98217468805704 | 20 | 1122 | 100616702-100616710, 100616722-100616732 |
| 520 | TGFBR1 | 9 | 0.99206349206349 | 12 | 1512 | 101867544-101867546, 101867549-101867556, 101867566 |
| 521 | INVS | 9 | 0.99843652282677 | 5 | 3198 | 103046727-103046731 |
| 522 | FKTN | 9 | 0.9992784992785 | 1 | 1386 | 108370214 |
| 523 | DFNB31 | 9 | 0.99743024963289 | 7 | 2724 | 117266817-117266823 |
| 524 | TOR1A | 9 | 0.98598598598599 | 14 | 999 | 132586315, 132586325-132586331, 132586342-132586347 |
| 525 | SETX | 9 | 0.99937764500871 | 5 | 8034 | 135153530, 135164035-135164037, 135205093 |
| 526 | CEL | 9 | 0.84588287098195 | 350 | 2271 | 135944583-135944589, 135945985-135946018, 135946387-135946393, 135946683-135946965, 135946987-135947005 |
| 527 | SURF1 | 9 | 0.94795127353267 | 47 | 903 | 136223283-136223329 |
| 528 | ADAMTS13 | 9 | 0.99089635854342 | 39 | 4284 | 136293851-136293889 |
| 529 | DBH | 9 | 0.99838187702265 | 3 | 1854 | 136523499-136523501 |
| 530 | SARDH | 9 | 0.99564744287269 | 12 | 2757 | 136555502-136555513 |
| 531 | COL5A1 | 9 | 0.99148087728838 | 47 | 5517 | 137534056-137534102 |
| 532 | LHX3 | 9 | 0.96029776674938 | 48 | 1209 | 139090872, 139094804, 139094823-139094868 |
| 533 | NOTCH1 | 9 | 0.9990871152843 | 7 | 7668 | 139399251-139399255, 139440192, 139440218 |
| 534 | AGPAT2 | 9 | 0.95818399044205 | 35 | 837 | 139581743-139581745, 139581755-139581784, 139581791-139581792 |
| 535 | SLC34A3 | 9 | 0.98833333333333 | 21 | 1800 | 140128611-140128631 |
| 536 | EHMT1 | 9 | 0.99948678470618 | 2 | 3897 | 140672380-140672381 |
| 537 | SMS | X | 0.99909173478656 | 1 | 1101 | 21958960 |
| 538 | ARX | X | 0.99526346950858 | 8 | 1689 | 25031777-25031784 |
| 539 | DMD | X | 0.99954783866884 | 5 | 11058 | 32235148-32235151, 32398680 |
| 540 | RPGR | X | 0.93321769297485 | 231 | 3459 | 38145348, 38145371, 38145376, 38145382-38145386, 38145417-38145469, 38145482-38145573, 38145590-38145599, 38145608-38145614, 38145626-38145686 |
| 541 | AR | X | 0.9728555917481 | 75 | 2763 | 66765155-66765224, 66765249, 66766381-66766383, 66766386 |
| 542 | MED12 | X | 0.99816345270891 | 12 | 6534 | 70360648-70360650, 70360658-70360663, 70361109, 70361133-70361134 |
| 543 | TAF1 | X | 0.97817669834565 | 124 | 5682 | 70586165-70586288 |
| 544 | SLC16A2 | X | 0.99022801302932 | 18 | 1842 | 73641365, 73641376-73641382, 73641392-73641394, 73641397-73641403 |
| 545 | BRWD3 | X | 0.99537807358107 | 25 | 5409 | 79991535, 79991554-79991555, 80064949-80064970 |
| 546 | LAMP2 | X | 0.99919093851133 | 1 | 1236 | 119590533 |
| 547 | CUL4B | X | 0.99963530269876 | 1 | 2742 | 119694086 |
| 548 | ZIC3 | X | 0.94444444444444 | 78 | 1404 | 136651084-136651161 |
| 549 | SLC6A8 | X | 0.92662473794549 | 140 | 1908 | 152954074-152954148, 152954162-152954166, 152954187-152954243, 152959470-152959472 |
| 550 | ABCD1 | X | 0.9982126899017 | 4 | 2238 | 153008675-153008678 |
| 551 | MECP2 | X | 0.98263193052772 | 26 | 1497 | 153296207, 153363085-153363090, 153363096-153363114 |
| 552 | OPN1MW | X | 0.99360730593607 | 7 | 1095 | 153453443-153453449 |
| 553 | OPN1MW | X | 0.99360730593607 | 7 | 1095 | 153490561-153490567 |
| Effect rank | Variant | Phase/ Zygosity | Allele freq | Impact | Evaluation | Summary / Info |
|---|---|---|---|---|---|---|
| 5 | BRCA1-Q356R | het unknown | 0.023 | Dominant pathogenic | Moderate clinical importance, likely | This variant was associated with an increased susceptibility to breast cancer. Johnson et al. found strongest significance for a dominant hypothesis. We estimate a woman carrying this variant to have an attributable increased lifetime risk of breast cancer of ~6% (~18% total, assuming 12% average lifetime risk). |
| 5 | MBL2-R52C | homozygous | 0.035 | Recessive pathogenic | Low clinical importance, likely | This variant is associated with mannose binding protein deficiency which leads to impaired complement system immune response to mannose-rich pathogens. Patients homozygous for this allele or compound heterozygous are likely to have increased susceptibility to infection, but Hellemann et al. report heterosis for intensive care outcomes in heterozygous subjects. The wild-type version of this gene is known as variant allele A, while this is called variant allele D. See G54D (variant B) and G57E (variant C). |
| 4 | ALAD-K59N | homozygous | 0.060 | Unknown pathogenic | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests |
| 4 | SEMA4A-R713Q | homozygous | 0.062 | Unknown pathogenic | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.553 (possibly damaging), Testable gene in GeneTests |
| 2.5 | TGFB1-R25P | het unknown | 0.036 | Complex/Other pathogenic | Insufficiently evaluated | Prioritization score: 4 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 2.5 | ABCA4-S2255I | het unknown | 0.221 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests |
| 2.5 | ABCA4-V2050L | het unknown | Unknown pathogenic | Insufficiently evaluated | Prioritization score: 4 Polyphen 2: 0.993 (probably damaging), Testable gene in GeneTests | |
| 2.5 | ABCA4-H423R | het unknown | 0.232 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests |
| 2 | SP110-L425S | homozygous | 0.875 | Unknown pathogenic | Low clinical importance, uncertain | This variant is associated with a slightly increased risk of tuberculosis. It is unclear whether it is itself causal, or in linkage disequilibrium with some other causal variant that has a stronger effect. |
| 2 | SP110-G299R | homozygous | 0.822 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 2 | SP110-A206V | homozygous | 0.142 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 2 | SP110-W112R | homozygous | 0.945 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 2 | PCSK9-V474I | homozygous | 0.859 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests |
| 2 | PCSK9-G670E | homozygous | 0.848 | Unknown benign | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests |
| 2 | NEFL-S472Shift | homozygous | Unknown | Insufficiently evaluated | Prioritization score: 4 Frameshift, Testable gene in GeneTests with associated GeneReview | |
| 2 | CASP10-V410I | het unknown | 0.031 | Dominant protective | Insufficiently evaluated | Prioritization score: 5 Polyphen 2: 0.874 (probably damaging), Testable gene in GeneTests with associated GeneReview |
| 2 | CASP10-L522I | homozygous | 0.309 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 2 | TP53-P72R | homozygous | 0.550 | Unknown pathogenic | Low clinical importance, uncertain | This is a common variant was first reported as a polymorphism. It has since had mixed associations with cancer: Storey et al. conclude a 7x *increased* risk of HPV cancer for homozygotes vs hets, but Jones et al. find a 1.98x *decreased* risk for colorectal cancer. This variant may have significant impact on particular cancers, but it is unclear what effect it has on the overall burden of cancer. |
| 2 | KCNH2-K897T | homozygous | 0.098 | Unknown pharmacogenetic | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: 0.001 (benign), Testable gene in GeneTests with associated GeneReview |
| 2 | APOB-S4338N | het unknown | 0.725 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests |
| 2 | APOB-E4181K | het unknown | 0.121 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests |
| 2 | APOB-P2739L | het unknown | 0.346 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests |
| 2 | APOB-I2313V | homozygous | 0.964 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests |
| 2 | APOB-Y1422C | homozygous | 0.994 | Unknown benign | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests |
| 2 | APOB-A618V | homozygous | 0.494 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests |
| 2 | MYH6-V1663I | het unknown | Unknown | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview | |
| 2 | MYH6-DA1661ET | het unknown | Unknown | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview | |
| 2 | MYH6-A1130T | homozygous | 0.048 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 4 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 1.5 | SLC9A3R1-L110V | het unknown | 0.010 | Unknown pathogenic | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: 0.006 (benign) |
| 1.5 | PRNP-M129V | het unknown | 0.258 | Complex/Other protective | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: 0.628 (possibly damaging), Testable gene in GeneTests with associated GeneReview |
| 1.5 | PRKCH-V374I | het unknown | 0.015 | Unknown pathogenic | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: Unknown |
| 1.5 | CILP-Q979R | homozygous | 0.986 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 1.5 | CILP-K575E | homozygous | 0.974 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 1.5 | CILP-I395T | homozygous | 0.491 | Unknown pathogenic | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 1.125 | LDLRAP1-S202P | homozygous | 0.473 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.803 (possibly damaging), Testable gene in GeneTests |
| 1.125 | LDLRAP1-R238W | het unknown | 0.016 | Recessive pathogenic | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: 0.961 (probably damaging), Testable gene in GeneTests |
| 1 | ATP7A-V767L | homozygous | 0.332 | Unknown pharmacogenetic | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 1 | ATP7A-E1350K | homozygous | 1.000 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 1 | C19orf55-G398Shift | homozygous | Unknown | Insufficiently evaluated | Prioritization score: 2 Frameshift | |
| 1 | TNXB-V3186I | homozygous | 0.062 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 1 | TNXB-G2518E | homozygous | 0.658 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 1 | TNXB-R1255H | homozygous | 0.106 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 1 | TNXB-H1161R | homozygous | 0.568 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 1 | MATN3-E252K | het unknown | 0.008 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 4 Polyphen 2: 0.998 (probably damaging), Testable gene in GeneTests with associated GeneReview |
| 1 | RYR1-Q3756E | het unknown | 0.031 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 4 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 1 | HADHB-T2TT | homozygous | 0.008 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests |
| 1 | PCSK1-S690T | homozygous | 0.218 | Unknown pharmacogenetic | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.061 (benign), Testable gene in GeneTests |
| 1 | PCSK1-Q665E | homozygous | 0.238 | Unknown pharmacogenetic | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests |
| 1 | PCSK1-N221D | het unknown | 0.020 | Unknown pharmacogenetic | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.006 (benign), Testable gene in GeneTests |
| 1 | SLC5A6-L573F | homozygous | 0.034 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.98 (probably damaging) |
| 1 | DLL3-F172C | het unknown | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 5 Polyphen 2: 0.981 (probably damaging), Testable gene in GeneTests with associated GeneReview | |
| 1 | DLL3-L218P | homozygous | 0.650 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 1 | HSH2D-S223Shift | homozygous | 0.016 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Frameshift |
| 1 | MICA-W37G | homozygous | 0.203 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 1 | MICA-Y59C | homozygous | 0.293 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 1 | MICA-Q114R | het unknown | 0.008 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: Unknown |
| 1 | MICA-V152M | homozygous | 0.314 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 1 | MICA-M174V | het unknown | 0.031 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: Unknown |
| 1 | MICA-E196K | homozygous | 0.363 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 1 | MICA-S229G | homozygous | 0.320 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 1 | MICA-R233W | homozygous | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown | |
| 1 | MICA-I236T | homozygous | 0.570 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 1 | MICA-T238S | homozygous | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: Unknown | |
| 1 | MICA-R274Q | homozygous | 0.538 | Unknown pharmacogenetic | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 1 | MICA-P294A | het unknown | Unknown | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: Unknown | |
| 1 | MICA-V300Shift | het unknown | Unknown | Insufficiently evaluated | Prioritization score: 2 Frameshift | |
| 1 | MICA-C329R | het unknown | 0.206 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 1 | MICA-P330L | homozygous | 0.262 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 1 | CCDC66-D5Shift | homozygous | Unknown | Insufficiently evaluated | Prioritization score: 2 Frameshift | |
| 1 | CCDC66-Q383R | homozygous | 0.934 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 1 | CCDC66-R460Q | homozygous | 0.206 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: 0.999 (probably damaging) |
| 1 | EPHX1-Y113H | homozygous | 0.290 | Unknown pharmacogenetic | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.997 (probably damaging) |
| 1 | PLEKHA2-P389Shift | homozygous | 0.032 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Frameshift |
| 1 | APOE-R176C | het unknown | 0.073 | Complex/Other pharmacogenetic | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: 1.0 (probably damaging), Testable gene in GeneTests |
| 1 | TNXB-R48P | homozygous | Unknown | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview | |
| 1 | DGKK-L1014Shift | homozygous | Unknown | Insufficiently evaluated | Prioritization score: 2 Frameshift | |
| 1 | CXorf59-R424Shift | homozygous | Unknown | Insufficiently evaluated | Prioritization score: 2 Frameshift | |
| 1 | SCCPDH-G418R | homozygous | 0.023 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.943 (probably damaging) |
| 1 | ATG9B-A765Shift | homozygous | Unknown | Insufficiently evaluated | Prioritization score: 2 Frameshift | |
| 1 | ATG9B-N493S | het unknown | 0.079 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 1 | VSIG10L-Q860Shift | homozygous | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Frameshift | |
| 1 | CLECL1-S52Shift | homozygous | 0.008 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Frameshift |
| 1 | ULK2-P242S | homozygous | 0.008 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown |
| 1 | ENO3-N71S | homozygous | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests | |
| 1 | ENO3-V85A | het unknown | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests | |
| 1 | FAM58A-Q15Shift | homozygous | Unknown | Insufficiently evaluated | Prioritization score: 3 Frameshift, Testable gene in GeneTests | |
| 1 | FAM58A-G4Shift | homozygous | Unknown | Insufficiently evaluated | Prioritization score: 3 Frameshift, Testable gene in GeneTests | |
| 1 | PIK3R6-L609Shift | homozygous | Unknown | Insufficiently evaluated | Prioritization score: 2 Frameshift | |
| 1 | DSG2-I293V | het unknown | 0.036 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 4 Polyphen 2: 0.961 (probably damaging), Testable gene in GeneTests with associated GeneReview |
| 1 | NDOR1-R30G | homozygous | 0.045 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.894 (probably damaging) |
| 1 | NR_024390-W43* | homozygous | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Nonsense mutation | |
| 1 | NR_024390-A104P | homozygous | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: Unknown | |
| 1 | TTN-R32018H | het unknown | Unknown | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview | |
| 1 | TTN-TG30057RR | het unknown | Unknown | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview | |
| 1 | TTN-R29962H | het unknown | Unknown | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview | |
| 1 | TTN-I26820T | het unknown | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview | |
| 1 | TTN-I25199V | het unknown | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview | |
| 1 | TTN-T24045M | het unknown | Unknown | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview | |
| 1 | TTN-I23649T | het unknown | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview | |
| 1 | TTN-R22371C | het unknown | Unknown | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview | |
| 1 | TTN-A19840P | homozygous | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview | |
| 1 | TTN-V19783I | het unknown | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview | |
| 1 | TTN-S19140L | het unknown | Unknown | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview | |
| 1 | TTN-T18827I | het unknown | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview | |
| 1 | TTN-P17286L | het unknown | Unknown | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview | |
| 1 | TTN-R16903H | het unknown | Unknown | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview | |
| 1 | TTN-N16125D | het unknown | 0.469 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 1 | TTN-I15163T | het unknown | Unknown | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview | |
| 1 | TTN-R9852H | het unknown | 0.198 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 1 | TTN-G9378R | het unknown | 0.395 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 1 | TTN-I9278V | het unknown | 0.450 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 1 | TTN-S3419N | homozygous | 0.850 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 1 | TTN-V3261M | homozygous | 0.840 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 1 | TTN-S1295L | homozygous | 0.881 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 1 | TTN-K1201E | homozygous | 0.519 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 1 | SEPT9-P145L | het unknown | 0.078 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 4 Polyphen 2: 0.926 (probably damaging), Testable gene in GeneTests with associated GeneReview |
| 1 | HLA-DQB1-V235I | het unknown | 0.544 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 1 | HLA-DQB1-A172T | het unknown | 0.342 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 1 | HLA-DQB1-G157A | homozygous | 0.539 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 1 | HLA-DQB1-Y62S | het unknown | Unknown | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview | |
| 1 | HLA-DQB1-T60S | het unknown | 0.009 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 1 | HLA-DQB1-L58Y | het unknown | Unknown | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview | |
| 1 | HLA-DQB1-G45A | het unknown | 0.070 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 1 | HLA-DQB1-F41Y | homozygous | 0.789 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 1 | HLA-DQB1-LL28PV | homozygous | 0.156 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 1 | HLA-DQB1-S27T | homozygous | 0.206 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 1 | HLA-DQB1-V15A | homozygous | 0.053 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 1 | HLA-DQB1-D12G | homozygous | 0.395 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 1 | SEBOX-L207S | het unknown | 0.913 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 1 | SEBOX-W10Shift | homozygous | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Frameshift | |
| 1 | TCEAL6-Q175Shift | homozygous | 0.022 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Frameshift |
| 1 | B3GNT6-L316Shift | homozygous | Unknown | Insufficiently evaluated | Prioritization score: 2 Frameshift | |
| 1 | B3GNT6-L335Shift | homozygous | Unknown | Insufficiently evaluated | Prioritization score: 2 Frameshift | |
| 1 | TYR-R402Q | het unknown | 0.063 | Complex/Other benign | Insufficiently evaluated | Prioritization score: 4 Polyphen 2: 0.997 (probably damaging), Testable gene in GeneTests with associated GeneReview |
| 1 | TRIM64-I58T | homozygous | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: Unknown | |
| 1 | TRIM64-R162S | homozygous | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown | |
| 1 | TRIM64-V238M | homozygous | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: Unknown | |
| 1 | TRIM64-E242V | homozygous | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: Unknown | |
| 1 | TRIM64-Q358R | homozygous | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: Unknown | |
| 1 | TRIM64-Q405R | homozygous | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown | |
| 1 | ZFPM1-R22G | het unknown | 0.569 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 1 | ZFPM1-E444Shift | homozygous | Unknown | Insufficiently evaluated | Prioritization score: 2 Frameshift | |
| 1 | ZFPM1-L446Shift | homozygous | Unknown | Insufficiently evaluated | Prioritization score: 2 Frameshift | |
| 1 | KCP-D621V | het unknown | Unknown | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: Unknown | |
| 1 | KCP-K395E | het unknown | Unknown | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: Unknown | |
| 1 | KCP-H313Shift | homozygous | Unknown | Insufficiently evaluated | Prioritization score: 2 Frameshift | |
| 1 | KCP-A16Shift | homozygous | Unknown | Insufficiently evaluated | Prioritization score: 2 Frameshift | |
| 1 | INSR-A2G | homozygous | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests | |
| 1 | HLA-DQA1-L8M | homozygous | 0.457 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 1 | HLA-DQA1-A11T | het unknown | 0.085 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 1 | HLA-DQA1-C34Y | homozygous | 0.547 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 1 | HLA-DQA1-F41S | homozygous | 0.544 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 1 | HLA-DQA1-E63G | homozygous | 0.233 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 1 | HLA-DQA1-A68V | homozygous | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview | |
| 1 | HLA-DQA1-RW70CL | homozygous | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview | |
| 1 | HLA-DQA1-EF73VL | homozygous | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview | |
| 1 | HLA-DQA1-SK75RQ | homozygous | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview | |
| 1 | HLA-DQA1-G78R | homozygous | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview | |
| 1 | HLA-DQA1-G79Del | homozygous | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview | |
| 1 | HLA-DQA1-G84F | homozygous | 0.122 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 1 | HLA-DQA1-R87T | homozygous | 0.170 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 1 | HLA-DQA1-M89I | homozygous | 0.200 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 1 | HLA-DQA1-A92L | homozygous | 0.151 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 1 | HLA-DQA1-IM98SL | homozygous | 0.066 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 1 | HLA-DQA1-Y103S | homozygous | 0.544 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 1 | HLA-DQA1-T130I | homozygous | 0.151 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 1 | HLA-DQA1-Q152H | homozygous | 0.526 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 1 | PKD2-R28P | het unknown | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 4 Polyphen 2: 0.62 (possibly damaging), Testable gene in GeneTests with associated GeneReview | |
| 1 | PKD2-E102Del | het unknown | Unknown | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview | |
| 1 | ARMS2-A69S | homozygous | 0.294 | Unknown pharmacogenetic | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests |
| 1 | AX746750-S137Shift | homozygous | 0.010 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Frameshift |
| 1 | KRTAP7-1-I61S | homozygous | Unknown | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: Unknown | |
| 1 | KRTAP7-1-S51P | homozygous | Unknown | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: Unknown | |
| 1 | KRTAP7-1-Y17Shift | homozygous | Unknown | Insufficiently evaluated | Prioritization score: 2 Frameshift | |
| 1 | GSTM1-K173N | homozygous | 1.000 | Unknown pharmacogenetic | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests |
| 1 | ACOT4-A187D | homozygous | 0.062 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.993 (probably damaging) |
| 1 | ACOT4-AY189QS | homozygous | 0.048 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: Unknown |
| 1 | FANCI-A86V | homozygous | 0.219 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 1 | FANCI-C742S | homozygous | 0.234 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 1 | FANCI-I877L | homozygous | 0.086 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 1 | ZNF598-G42Shift | homozygous | Unknown | Insufficiently evaluated | Prioritization score: 2 Frameshift | |
| 1 | ZNF598-E25G | homozygous | Unknown | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: Unknown | |
| 1 | ZNF598-E17A | homozygous | Unknown | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: Unknown | |
| 1 | ZNF598-DM13AL | homozygous | Unknown | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: Unknown | |
| 1 | NR_027242-N339Shift | homozygous | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Frameshift | |
| 1 | NR_027242-L114P | homozygous | Unknown | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: Unknown | |
| 1 | NR_027242-Q97Shift | homozygous | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Frameshift | |
| 1 | NR_027242-L22P | homozygous | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: Unknown | |
| 1 | ZNF480-C3Shift | homozygous | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Frameshift | |
| 1 | SYNE1-G8323A | het unknown | 0.310 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.003 (benign), Testable gene in GeneTests with associated GeneReview |
| 1 | SYNE1-A8168S | het unknown | 0.128 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 1 | SYNE1-F7302V | homozygous | 0.991 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 1 | SYNE1-L5015M | het unknown | 0.866 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 1 | SYNE1-S4596T | het unknown | 0.800 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 1 | SYNE1-D4148H | het unknown | 0.016 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 4 Polyphen 2: 0.998 (probably damaging), Testable gene in GeneTests with associated GeneReview |
| 1 | SYNE1-K4121R | het unknown | 0.835 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 1 | SYNE1-E4060D | het unknown | 0.539 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.005 (benign), Testable gene in GeneTests with associated GeneReview |
| 1 | SYNE1-N1915Shift | het unknown | 0.008 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 4 Frameshift, Testable gene in GeneTests with associated GeneReview |
| 1 | SYNE1-V1035A | het unknown | 0.632 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.673 (possibly damaging), Testable gene in GeneTests with associated GeneReview |
| 1 | LRP11-P92R | homozygous | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.988 (probably damaging) | |
| 1 | SCARF2-A832G | het unknown | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: Unknown | |
| 1 | SCARF2-DV772EL | homozygous | Unknown | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: Unknown | |
| 1 | SCARF2-E764Shift | homozygous | Unknown | Insufficiently evaluated | Prioritization score: 2 Frameshift | |
| 1 | SCARF2-P747Shift | homozygous | Unknown | Insufficiently evaluated | Prioritization score: 2 Frameshift | |
| 1 | SCARF2-A745Shift | homozygous | Unknown | Insufficiently evaluated | Prioritization score: 2 Frameshift | |
| 1 | SFTPA2-T9N | homozygous | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown | |
| 1 | ZNF167-N494Shift | homozygous | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Frameshift | |
| 1 | EYS-R2326Q | homozygous | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests | |
| 1 | EYS-N1902I | het unknown | 0.316 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: Unknown, Testable gene in GeneTests |
| 1 | EYS-L1873V | het unknown | 0.081 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: Unknown, Testable gene in GeneTests |
| 1 | EYS-S1517G | het unknown | 0.099 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: Unknown, Testable gene in GeneTests |
| 1 | EYS-R1515W | het unknown | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests | |
| 1 | EYS-I1451T | het unknown | 0.099 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: Unknown, Testable gene in GeneTests |
| 1 | EYS-L1419S | homozygous | 0.780 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: Unknown, Testable gene in GeneTests |
| 1 | EYS-I1361V | het unknown | 0.098 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: Unknown, Testable gene in GeneTests |
| 1 | EYS-Q1325E | het unknown | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests | |
| 1 | EYS-I1263V | het unknown | 0.098 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: Unknown, Testable gene in GeneTests |
| 1 | EYS-L852P | het unknown | 0.655 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: Unknown, Testable gene in GeneTests |
| 1 | TNFRSF13C-H159Y | het unknown | 0.016 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 4 Polyphen 2: 0.994 (probably damaging), Testable gene in GeneTests with associated GeneReview |
| 1 | TNFRSF13C-P21R | het unknown | Unknown | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview | |
| 1 | COL18A1-V1076I | het unknown | 0.133 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: Unknown, Testable gene in GeneTests |
| 1 | COL18A1-P1121R | het unknown | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests | |
| 1 | COL18A1-PGP1362Del | homozygous | Unknown | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests | |
| 1 | SEPN1-C108Y | homozygous | 0.789 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 1 | SEPN1-A161T | het unknown | Unknown | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview | |
| 1 | SEPN1-N467K | homozygous | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview | |
| 1 | AP1S2-T35A | homozygous | Unknown | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests | |
| 1 | AP1S2-R29P | homozygous | Unknown | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests | |
| 1 | INADL-E362A | homozygous | 0.043 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.96 (probably damaging) |
| 1 | INADL-I870M | homozygous | 0.983 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 1 | INADL-G1178S | homozygous | 0.405 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 1 | INADL-R1282H | het unknown | 0.497 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: 0.01 (benign) |
| 1 | INADL-V1360L | het unknown | 0.563 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 1 | NPRL3-L489Shift | homozygous | 0.048 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Frameshift |
| 1 | F5-M1764V | het unknown | 0.273 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 1 | F5-K925E | het unknown | 0.196 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 1 | F5-H865R | het unknown | 0.238 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 1 | F5-K858R | het unknown | 0.239 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 1 | F5-Q534R | homozygous | 0.991 | Unknown pharmacogenetic | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 1 | NCRNA00255-P39Shift | homozygous | 0.013 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Frameshift |
| 1 | KCNJ11-V337I | het unknown | 0.761 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 1 | KCNJ11-K23E | het unknown | 0.711 | Unknown protective | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 1 | BC040901-C89W | homozygous | 0.706 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 1 | BC040901-P93S | homozygous | 0.548 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 1 | BC040901-A106Shift | homozygous | 0.016 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Frameshift |
| 1 | CHIT1-V357V* | het unknown | 0.016 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Nonsense mutation, Testable gene in GeneTests |
| 1 | CHIT1-G102S | het unknown | 0.268 | Unknown pathogenic | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.057 (benign), Testable gene in GeneTests |
| 1 | ZNF761-L47Shift | homozygous | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Frameshift | |
| 1 | LAMB3-R1042W | het unknown | 0.016 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 4 Polyphen 2: 0.997 (probably damaging), Testable gene in GeneTests with associated GeneReview |
| 1 | LAMB3-R961Q | het unknown | Unknown | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview | |
| 1 | CUL7-Q813R | homozygous | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview | |
| 1 | HRNR-S799T | het unknown | 0.569 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 1 | HRNR-R664Q | het unknown | 0.568 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 1 | HRNR-Y517C | het unknown | 0.185 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 1 | HRNR-G492R | het unknown | 0.588 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 1 | HRNR-E473G | homozygous | 0.951 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 1 | HRNR-G427D | het unknown | 0.357 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 1 | HRNR-Q376R | homozygous | 1.000 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 1 | HRNR-H273Q | het unknown | 0.383 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 1 | HRNR-R85H | het unknown | 0.553 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: 0.078 (benign) |
| 1 | HRNR-M1Shift | homozygous | Unknown | Insufficiently evaluated | Prioritization score: 2 Frameshift | |
| 1 | KCNJ10-R271C | het unknown | 0.021 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 4 Polyphen 2: 0.96 (probably damaging), Testable gene in GeneTests |
| 1 | FLG-R3738H | het unknown | 0.134 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.278 (possibly damaging), Testable gene in GeneTests with associated GeneReview |
| 1 | FLG-R3530S | het unknown | 0.009 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 4 Polyphen 2: 0.999 (probably damaging), Testable gene in GeneTests with associated GeneReview |
| 1 | FLG-V3179G | het unknown | 0.339 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.001 (benign), Testable gene in GeneTests with associated GeneReview |
| 1 | FLG-G2545R | het unknown | 0.292 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.006 (benign), Testable gene in GeneTests with associated GeneReview |
| 1 | FLG-H2507Q | het unknown | 0.318 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.002 (benign), Testable gene in GeneTests with associated GeneReview |
| 1 | FLG-L2481S | het unknown | 0.222 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.003 (benign), Testable gene in GeneTests with associated GeneReview |
| 1 | FLG-K2444E | het unknown | 0.188 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.002 (benign), Testable gene in GeneTests with associated GeneReview |
| 1 | FLG-E2398Q | het unknown | 0.144 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: 0.92 (probably damaging), Testable gene in GeneTests with associated GeneReview |
| 1 | FLG-S2366T | het unknown | 0.125 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: 0.967 (probably damaging), Testable gene in GeneTests with associated GeneReview |
| 1 | FLG-H1961Q | het unknown | 0.418 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 1 | FLG-R1891Q | het unknown | 0.061 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 1 | FLG-A1805V | het unknown | 0.048 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 1 | FLG-R1699C | het unknown | 0.428 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 1 | FLG-R1684H | het unknown | 0.190 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 1 | FLG-S1482Y | het unknown | 0.243 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 1 | FLG-R1376G | het unknown | 0.170 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 1 | FLG-R1360H | het unknown | 0.164 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 1 | FLG-A1167G | het unknown | 0.425 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 1 | FLG-E755K | het unknown | 0.155 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 1 | FLG-P478S | het unknown | 0.318 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: 0.001 (benign), Testable gene in GeneTests with associated GeneReview |
| 1 | FLG-T454A | het unknown | 0.328 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: 0.075 (benign), Testable gene in GeneTests with associated GeneReview |
| 1 | FLG-G444R | het unknown | 0.319 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: 0.991 (probably damaging), Testable gene in GeneTests with associated GeneReview |
| 1 | FLG-G332V | het unknown | 0.227 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: 0.995 (probably damaging), Testable gene in GeneTests with associated GeneReview |
| 1 | PADI6-V343Shift | homozygous | 0.016 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Frameshift |
| 1 | AX746903-T82Shift | homozygous | Unknown | Insufficiently evaluated | Prioritization score: 2 Frameshift | |
| 1 | MAPT-Q230R | het unknown | 0.023 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 5 Polyphen 2: 0.895 (probably damaging), Testable gene in GeneTests with associated GeneReview |
| 1 | MAPT-Y441H | het unknown | Unknown | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview | |
| 1 | MAPT-GT539AA | het unknown | 0.008 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.75 | ADD1-G460W | het unknown | 0.232 | Unknown pathogenic | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: 0.995 (probably damaging) |
| 0.75 | ADD1-S617C | het unknown | 0.334 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 0.75 | AURKA-I57V | het unknown | 0.814 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 0.75 | AURKA-F31I | het unknown | 0.366 | Unknown pathogenic | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 0.75 | CHRNA5-D398N | het unknown | 0.158 | Unknown pathogenic | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: 0.003 (benign) |
| 0.75 | BANK1-R61H | het unknown | 0.221 | Unknown pathogenic | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 0.75 | BANK1-S303R | het unknown | 0.103 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: 0.45 (possibly damaging) |
| 0.75 | BANK1-A383T | het unknown | 0.233 | Unknown pharmacogenetic | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: 0.778 (possibly damaging) |
| 0.75 | BANK1-C650R | homozygous | 0.990 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 0.625 | ALS2-V368M | homozygous | 0.869 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.625 | ALS2-N109Shift | het unknown | Unknown | Insufficiently evaluated | Prioritization score: 4 Frameshift, Testable gene in GeneTests with associated GeneReview | |
| 0.5 | LCA5-G656D | het unknown | 0.377 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | LCA5-L24S | homozygous | 0.904 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.001 (benign), Testable gene in GeneTests with associated GeneReview |
| 0.5 | MUT-I671V | homozygous | 0.522 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | MUT-R532H | het unknown | 0.238 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | MUT-A499T | het unknown | 0.110 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | CYP39A1-R389C | het unknown | 0.008 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 1.0 (probably damaging) |
| 0.5 | CYP39A1-N324K | homozygous | 0.410 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 0.5 | PTK7-R1038Q | het unknown | 0.039 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.322 (possibly damaging) |
| 0.5 | PKHD1-I3905N | het unknown | 0.030 | Unknown benign | Insufficiently evaluated | Prioritization score: 4 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | PKHD1-A3072V | het unknown | Unknown | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview | |
| 0.5 | PKHD1-L1870V | homozygous | 0.905 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | PKHD1-A1262V | het unknown | 0.239 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | PKHD1-R760C | het unknown | 0.318 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | CRISP2-C196R | het unknown | 0.008 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: 1.0 (probably damaging) |
| 0.5 | MDN1-D4783E | het unknown | 0.117 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: 0.011 (benign) |
| 0.5 | MDN1-I4720T | het unknown | 0.035 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: 0.017 (benign) |
| 0.5 | MDN1-V4283E | het unknown | Unknown | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: Unknown | |
| 0.5 | MDN1-R4266G | het unknown | 0.031 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.998 (probably damaging) |
| 0.5 | MDN1-A3794G | het unknown | 0.078 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: 0.177 (benign) |
| 0.5 | MDN1-V3510M | het unknown | Unknown | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: Unknown | |
| 0.5 | MDN1-S1559N | homozygous | 0.846 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 0.5 | ELOVL4-M299V | homozygous | 0.213 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests |
| 0.5 | HLA-H-Q61R | homozygous | 0.288 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | HLA-H-V92L | het unknown | 0.135 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | HLA-H-L145R | homozygous | 0.293 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | HLA-H-A147V | homozygous | 0.278 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | HLA-H-S182W | het unknown | 0.392 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | HLA-H-S182W | het unknown | 0.392 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | HLA-H-C238S | homozygous | 0.729 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | PRPH2-D338G | homozygous | 0.761 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests |
| 0.5 | PRPH2-R310K | homozygous | 0.943 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests |
| 0.5 | PRPH2-Q304E | homozygous | 0.877 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests |
| 0.5 | PDE6A-H655Y | het unknown | 0.016 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests |
| 0.5 | SLC26A2-I574T | homozygous | 0.994 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | SLC26A2-T689S | het unknown | 0.163 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | FAT2-P4117L | het unknown | 0.772 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 0.5 | FAT2-M3631I | het unknown | 0.752 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: 0.129 (benign) |
| 0.5 | FAT2-L3514S | het unknown | 0.765 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 0.5 | FAT2-A2907T | het unknown | 0.010 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: Unknown |
| 0.5 | FAT2-F2428S | homozygous | 1.000 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 0.5 | FAT2-G1515S | het unknown | 0.113 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 0.5 | FAT2-V1462M | het unknown | 0.122 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 0.5 | FAT2-Y1181H | homozygous | 1.000 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 0.5 | FAT2-P248S | het unknown | 0.012 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.852 (probably damaging) |
| 0.5 | ADRB2-G16R | het unknown | 0.477 | Unknown pharmacogenetic | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.001 (benign), Testable gene in GeneTests |
| 0.5 | ADRB2-E27Q | het unknown | 0.773 | Unknown pharmacogenetic | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.001 (benign), Testable gene in GeneTests |
| 0.5 | AX746964-G175Shift | het unknown | 0.034 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Frameshift |
| 0.5 | AX746964-K166I | het unknown | 0.628 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 0.5 | FBN2-V965I | homozygous | 0.714 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | FBXL21-N31Shift | het unknown | 0.016 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Frameshift |
| 0.5 | FBXL21-V172Del | het unknown | 0.025 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: Unknown |
| 0.5 | FBXL21-P208L | het unknown | 0.812 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 0.5 | SRA1-V110RL | homozygous | 0.360 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | GABRA6-T187M | het unknown | 0.016 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 1.0 (probably damaging) |
| 0.5 | MSX2-M129T | homozygous | 0.716 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | NOTCH4-T320A | homozygous | 0.349 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 0.5 | NOTCH4-D272G | homozygous | 0.277 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 0.5 | NOTCH4-G247R | het unknown | 0.023 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.995 (probably damaging) |
| 0.5 | NOTCH4-K117Q | het unknown | 0.391 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 0.5 | COL11A2-P1316T | het unknown | 0.072 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | COL11A2-E276K | het unknown | 0.320 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: 0.651 (possibly damaging), Testable gene in GeneTests with associated GeneReview |
| 0.5 | TULP1-K261N | homozygous | 0.805 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | TULP1-I259T | het unknown | 0.344 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | TULP1-T67R | homozygous | 0.877 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | HLA-L-H17R | het unknown | Unknown | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: Unknown | |
| 0.5 | HLA-L-I30V | het unknown | Unknown | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: Unknown | |
| 0.5 | HLA-L-R38Shift | het unknown | Unknown | Insufficiently evaluated | Prioritization score: 2 Frameshift | |
| 0.5 | HLA-L-A142V | het unknown | Unknown | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: Unknown | |
| 0.5 | HLA-L-W144* | het unknown | Unknown | Insufficiently evaluated | Prioritization score: 2 Nonsense mutation | |
| 0.5 | HLA-L-C172Y | het unknown | Unknown | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: Unknown | |
| 0.5 | CMAH-V478A | homozygous | 0.836 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 0.5 | CMAH-R310P | het unknown | 0.078 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 0.5 | CMAH-N272Shift | het unknown | 0.023 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Frameshift |
| 0.5 | CMAH-R241W | het unknown | 0.078 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 0.5 | CMAH-I181T | het unknown | 0.078 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 0.5 | CMAH-G131S | het unknown | 0.031 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: Unknown |
| 0.5 | CMAH-L9I | het unknown | 0.109 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 0.5 | F12-A207P | homozygous | 0.951 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests |
| 0.5 | PDLIM7-A40V | het unknown | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.871 (probably damaging) | |
| 0.5 | PROP1-N20S | homozygous | 1.000 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | GRM6-M712V | het unknown | 0.067 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests |
| 0.5 | GRM6-A7T | het unknown | Unknown | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests | |
| 0.5 | ZCWPW1-T153A | het unknown | 0.028 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown |
| 0.5 | CASP8AP2-T1567Shift | het unknown | Unknown | Insufficiently evaluated | Prioritization score: 2 Frameshift | |
| 0.5 | CASP8AP2-S1568Shift | het unknown | Unknown | Insufficiently evaluated | Prioritization score: 2 Frameshift | |
| 0.5 | RECQL4-R766Shift | homozygous | 0.278 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 3 Frameshift, Testable gene in GeneTests with associated GeneReview |
| 0.5 | RECQL4-S92P | homozygous | 1.000 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | DOCK8-A22V | homozygous | 0.291 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: 0.009 (benign), Testable gene in GeneTests |
| 0.5 | DOCK8-D63N | het unknown | 0.079 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.99 (probably damaging), Testable gene in GeneTests |
| 0.5 | DOCK8-P97T | het unknown | 0.512 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.961 (probably damaging), Testable gene in GeneTests |
| 0.5 | DOCK8-N413S | het unknown | 0.193 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: 0.19 (benign), Testable gene in GeneTests |
| 0.5 | DENND4C-I5L | het unknown | 0.016 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.956 (probably damaging) |
| 0.5 | TAF1L-M371V | het unknown | 0.038 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.991 (probably damaging) |
| 0.5 | TTLL10-V249A | het unknown | 0.009 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown |
| 0.5 | BOP1-D78Shift | het unknown | Unknown | Insufficiently evaluated | Prioritization score: 2 Frameshift | |
| 0.5 | BOP1-D78Shift | het unknown | Unknown | Insufficiently evaluated | Prioritization score: 2 Frameshift | |
| 0.5 | TG-S734A | homozygous | 0.698 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests |
| 0.5 | TG-M1028V | homozygous | 0.696 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: 0.003 (benign), Testable gene in GeneTests |
| 0.5 | TG-R1999W | het unknown | 0.372 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: Unknown, Testable gene in GeneTests |
| 0.5 | TG-W2501R | het unknown | 0.566 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: 0.031 (benign), Testable gene in GeneTests |
| 0.5 | TG-R2530Q | homozygous | 0.586 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.003 (benign), Testable gene in GeneTests |
| 0.5 | PEX2-C184R | homozygous | 0.990 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | XKR9-L222F | het unknown | 0.016 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.3 (possibly damaging) |
| 0.5 | TMEM67-I604V | homozygous | 0.710 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | RIMS2-S278F | het unknown | 0.016 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown |
| 0.5 | SLC30A8-R325W | homozygous | 0.225 | Unknown pharmacogenetic | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 0.5 | TM7SF4-E192Q | het unknown | 0.076 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: 0.004 (benign) |
| 0.5 | TM7SF4-D349G | het unknown | 0.092 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 0.5 | TM7SF4-L397F | het unknown | 0.008 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.953 (probably damaging) |
| 0.5 | KIF24-W218L | het unknown | 0.050 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.999 (probably damaging) |
| 0.5 | KIF24-M140V | het unknown | 0.347 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: 0.091 (benign) |
| 0.5 | DNAI1-A8S | het unknown | 0.047 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: 0.001 (benign), Testable gene in GeneTests with associated GeneReview |
| 0.5 | SETX-I1386V | homozygous | 0.494 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | SETX-G1252R | homozygous | 0.494 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | SETX-D1192E | homozygous | 0.598 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | CEL-GA724ET | het unknown | Unknown | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests | |
| 0.5 | CEL-P726Shift | het unknown | Unknown | Insufficiently evaluated | Prioritization score: 3 Frameshift, Testable gene in GeneTests | |
| 0.5 | CEL-T731Shift | het unknown | Unknown | Insufficiently evaluated | Prioritization score: 3 Frameshift, Testable gene in GeneTests | |
| 0.5 | ADAMTS13-Q448E | homozygous | 0.211 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests |
| 0.5 | NOTCH1-R1279H | het unknown | 0.008 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests |
| 0.5 | NOTCH1-N755Del | het unknown | Unknown | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests | |
| 0.5 | SARDH-M648V | homozygous | 0.599 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: Unknown, Testable gene in GeneTests |
| 0.5 | SARDH-R614H | homozygous | 0.362 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.057 (benign), Testable gene in GeneTests |
| 0.5 | PTGS1-W8R | homozygous | 0.949 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 0.5 | PTGS1-L237M | het unknown | 0.025 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown |
| 0.5 | CDK5RAP2-V1540L | homozygous | 0.714 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | CDK5RAP2-E289Q | homozygous | 0.801 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | PTCH1-H721P | het unknown | Unknown | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview | |
| 0.5 | PTCH1-L720P | het unknown | Unknown | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview | |
| 0.5 | VPS13A-V898A | het unknown | 0.008 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.002 (benign), Testable gene in GeneTests with associated GeneReview |
| 0.5 | BAAT-R20Q | homozygous | 0.569 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.136 (benign), Testable gene in GeneTests |
| 0.5 | ABCA1-K1587R | homozygous | 0.486 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests |
| 0.5 | DFNB31-N796K | het unknown | 0.197 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | DFNB31-V783A | het unknown | 0.405 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | DFNB31-H752Q | homozygous | 0.983 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | DFNB31-M613T | het unknown | 0.487 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | DFNB31-P562A | het unknown | 0.036 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | DFNB31-A440T | het unknown | 0.197 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | DFNB31-R364H | homozygous | 0.968 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | FKBP15-P993T | het unknown | 0.029 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.976 (probably damaging) |
| 0.5 | FKBP15-E946EE | het unknown | Unknown | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: Unknown | |
| 0.5 | FKBP15-A847S | het unknown | 0.113 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: 0.306 (possibly damaging) |
| 0.5 | FKBP15-H413Q | het unknown | 0.504 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 0.5 | PREX2-R1394W | het unknown | 0.008 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 1.0 (probably damaging) |
| 0.5 | GGH-A31T | het unknown | 0.198 | Unknown pharmacogenetic | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 0.5 | GGH-C6R | het unknown | 0.088 | Unknown pharmacogenetic | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 0.5 | THSD7A-R841H | het unknown | 0.031 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.989 (probably damaging) |
| 0.5 | THSD7A-N583D | homozygous | 0.847 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 0.5 | DNAH11-E34L | het unknown | 0.335 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | DNAH11-Q639R | het unknown | 0.149 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | DNAH11-S654C | het unknown | 0.078 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | DNAH11-V1023A | het unknown | 0.193 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | DNAH11-T1038A | homozygous | 0.747 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | DNAH11-N2641S | homozygous | 0.367 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | DNAH11-V3715L | het unknown | 0.452 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | DNAH11-M4172V | homozygous | 0.334 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | DNAH11-T4177I | het unknown | 0.359 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | HOXA1-R73H | homozygous | 0.743 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests |
| 0.5 | TXNDC3-R43K | het unknown | 0.291 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | TXNDC3-C208R | homozygous | 0.740 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | GARS-P42A | homozygous | 0.654 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | PMS2-K541E | het unknown | 0.904 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | PMS2-T485K | het unknown | 0.063 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | PLG-D472N | homozygous | 0.151 | Unknown pharmacogenetic | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 0.5 | DSE-T25I | het unknown | 0.172 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: 0.012 (benign) |
| 0.5 | DSE-P34L | het unknown | 0.039 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: 0.953 (probably damaging) |
| 0.5 | AIM1-Q293P | het unknown | 0.181 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 0.5 | AIM1-E1196A | homozygous | 0.935 | Unknown pharmacogenetic | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: 0.015 (benign) |
| 0.5 | AIM1-C1395Y | het unknown | 0.243 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: 0.958 (probably damaging) |
| 0.5 | ROS1-S2229C | het unknown | 0.005 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: Unknown |
| 0.5 | ROS1-K2228Q | het unknown | 0.140 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 0.5 | ROS1-D2213N | het unknown | 0.135 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: 0.003 (benign) |
| 0.5 | ROS1-S1109L | het unknown | 0.040 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.284 (possibly damaging) |
| 0.5 | ROS1-T145P | het unknown | 0.157 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: 0.993 (probably damaging) |
| 0.5 | BCLAF1-S209C | het unknown | 0.004 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.96 (probably damaging) |
| 0.5 | BCLAF1-G66A | het unknown | 0.500 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 0.5 | FNDC1-E463Q | homozygous | 0.734 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: 0.25 (possibly damaging) |
| 0.5 | FNDC1-G829E | het unknown | 0.008 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.891 (probably damaging) |
| 0.5 | FNDC1-Q1003E | homozygous | 0.735 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: 0.25 (possibly damaging) |
| 0.5 | FNDC1-L1261P | homozygous | 0.618 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: 0.38 (possibly damaging) |
| 0.5 | FNDC1-Q1280R | homozygous | 0.770 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: 0.25 (possibly damaging) |
| 0.5 | FNDC1-TRRTTT1479Del | homozygous | 0.773 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 0.5 | FNDC1-T1504K | homozygous | 0.772 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 0.5 | FNDC1-T1574A | het unknown | 0.172 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: 0.98 (probably damaging) |
| 0.5 | EPM2A-A227V | het unknown | Unknown | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview | |
| 0.5 | EPM2A-P34A | het unknown | Unknown | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview | |
| 0.5 | CCM2-V120I | het unknown | 0.091 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.001 (benign), Testable gene in GeneTests with associated GeneReview |
| 0.5 | DDC-M217V | het unknown | 0.038 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.009 (benign), Testable gene in GeneTests |
| 0.5 | DDC-M17V | homozygous | 0.979 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests |
| 0.5 | ZNF282-R670Q | het unknown | 0.009 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown |
| 0.5 | MCPH1-R171S | homozygous | 0.865 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | MCPH1-D314H | homozygous | 0.648 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: 0.136 (benign), Testable gene in GeneTests with associated GeneReview |
| 0.5 | MCPH1-D392G | homozygous | 0.979 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | MCPH1-G689R | het unknown | Unknown | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview | |
| 0.5 | MCPH1-A761V | het unknown | 0.504 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | MCPH1-P828S | het unknown | 0.241 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | NAT2-I114T | homozygous | 0.220 | Recessive pharmacogenetic | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 0.5 | RP1-N985Y | homozygous | 0.206 | Unknown benign | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: 0.958 (probably damaging), Testable gene in GeneTests |
| 0.5 | RP1-C2033Y | homozygous | 0.186 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: 0.957 (probably damaging), Testable gene in GeneTests |
| 0.5 | LPL-S474* | het unknown | 0.096 | Unknown protective | Insufficiently evaluated | Prioritization score: 4 Nonsense mutation, Testable gene in GeneTests with associated GeneReview |
| 0.5 | CLCN1-G118W | homozygous | 0.995 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | CLCN1-P727L | homozygous | 0.325 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | FLNC-R1567Q | het unknown | 0.074 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.676 (possibly damaging), Testable gene in GeneTests with associated GeneReview |
| 0.5 | FLNC-I1882V | het unknown | Unknown | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview | |
| 0.5 | HGF-E304K | het unknown | 0.038 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: 0.028 (benign), Testable gene in GeneTests with associated GeneReview |
| 0.5 | EGFR-R521K | het unknown | 0.259 | Unknown pharmacogenetic | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests |
| 0.5 | ABCB1-N21D | het unknown | 0.044 | Unknown pharmacogenetic | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: Unknown |
| 0.5 | CYP3A7-R409T | homozygous | 0.669 | Unknown pharmacogenetic | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 0.5 | DPY19L2P2-H375Y | het unknown | 0.133 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 0.5 | DPY19L2P2-N333I | het unknown | 0.123 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 0.5 | DPY19L2P2-M120Shift | het unknown | 0.008 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Frameshift |
| 0.5 | HSD17B4-R106H | homozygous | 0.331 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.547 (possibly damaging), Testable gene in GeneTests |
| 0.5 | HSD17B4-I559V | het unknown | 0.392 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: 0.111 (benign), Testable gene in GeneTests |
| 0.5 | KDR-C482R | het unknown | 0.008 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.999 (probably damaging) |
| 0.5 | KDR-Q472H | het unknown | 0.297 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 0.5 | WDR36-I264V | homozygous | 0.223 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests |
| 0.5 | EDARADD-M9I | homozygous | 0.726 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | TPO-A257S | homozygous | 0.387 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests |
| 0.5 | TPO-S398T | het unknown | 0.684 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: 0.988 (probably damaging), Testable gene in GeneTests |
| 0.5 | TPO-T725P | homozygous | 0.524 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests |
| 0.5 | TPO-V847A | het unknown | 0.674 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.001 (benign), Testable gene in GeneTests |
| 0.5 | NT5C1B-R187Q | het unknown | 0.074 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: 0.005 (benign) |
| 0.5 | NT5C1B-S176* | het unknown | 0.016 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Nonsense mutation |
| 0.5 | OTOF-D304Y | het unknown | Unknown | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview | |
| 0.5 | OTOF-F303L | het unknown | Unknown | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview | |
| 0.5 | OTOF-R82C | homozygous | 0.229 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: 0.006 (benign), Testable gene in GeneTests with associated GeneReview |
| 0.5 | WDR35-R1018C | het unknown | 0.016 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.957 (probably damaging) |
| 0.5 | WDR35-Q18R | het unknown | 0.113 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 0.5 | IRF2BP2-A254V | het unknown | 0.033 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown |
| 0.5 | URB2-R1408Q | het unknown | 0.008 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.997 (probably damaging) |
| 0.5 | CACNA1S-L1800S | het unknown | 0.251 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | CACNA1S-R1658H | het unknown | 0.111 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | CACNA1S-L458H | het unknown | Unknown benign | Insufficiently evaluated | Prioritization score: 4 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview | |
| 0.5 | ASPM-L2647I | homozygous | 0.198 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | ASPM-S2562G | homozygous | 0.212 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | ASPM-Y2494H | homozygous | 0.992 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | USH2A-E3411A | homozygous | 0.638 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | USH2A-I2169T | het unknown | 0.575 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | USH2A-I2106T | het unknown | 0.629 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | USH2A-R1486K | het unknown | 0.646 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: 0.063 (benign), Testable gene in GeneTests with associated GeneReview |
| 0.5 | USH2A-A125T | het unknown | 0.777 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | RAB3GAP2-S1092T | het unknown | 0.043 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.924 (probably damaging) |
| 0.5 | ZNF678-C351Y | het unknown | 0.023 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 1.0 (probably damaging) |
| 0.5 | LBR-S154N | homozygous | 0.713 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests |
| 0.5 | GCKR-L446P | homozygous | 0.673 | Unknown pharmacogenetic | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 0.5 | C2orf71-S1225SS | het unknown | Unknown | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests | |
| 0.5 | C2orf71-T580M | het unknown | Unknown | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests | |
| 0.5 | C2orf71-K421R | het unknown | Unknown | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests | |
| 0.5 | CFC1-W78R | homozygous | 0.966 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests |
| 0.5 | LCT-N1639S | het unknown | 0.383 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests |
| 0.5 | LCT-I362V | homozygous | 0.944 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests |
| 0.5 | LCT-V219I | het unknown | 0.426 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests |
| 0.5 | LRP1B-V4264L | het unknown | 0.010 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown |
| 0.5 | LRP1B-Q48R | homozygous | 0.246 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: 0.508 (possibly damaging) |
| 0.5 | SCN9A-W1150R | homozygous | 0.896 | Dominant benign | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | SCN9A-P610T | het unknown | 0.008 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: 0.005 (benign), Testable gene in GeneTests with associated GeneReview |
| 0.5 | NEB-I6534V | het unknown | 0.372 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | NEB-A6277P | het unknown | 0.691 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | NEB-D5621A | het unknown | Unknown | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview | |
| 0.5 | NEB-R4389T | het unknown | 0.724 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | NEB-W3348C | het unknown | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview | |
| 0.5 | NEB-K2613N | het unknown | 0.138 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | NEB-V1491M | homozygous | 0.453 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | NEB-Y1301H | homozygous | 0.668 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | NEB-K1027N | homozygous | 0.476 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | GLI2-A1156S | homozygous | 0.536 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | GLI2-D1306N | homozygous | 0.595 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | GLI2-P1315S | het unknown | Unknown | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview | |
| 0.5 | EIF2AK3-A704S | homozygous | 0.756 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests |
| 0.5 | EIF2AK3-Q166R | homozygous | 0.690 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests |
| 0.5 | CYP1B1-V432L | het unknown | 0.547 | Unknown pharmacogenetic | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | CYP1B1-A119S | het unknown | 0.080 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | CYP1B1-R48G | het unknown | 0.360 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | ALK-D1529E | homozygous | 0.606 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | ALK-K1491R | het unknown | 0.405 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: 0.009 (benign), Testable gene in GeneTests with associated GeneReview |
| 0.5 | ALK-I1461V | homozygous | 0.982 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | ABCG8-Y54C | het unknown | 0.431 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.01 (benign), Testable gene in GeneTests |
| 0.5 | ABCG8-V632A | homozygous | 0.908 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests |
| 0.5 | LHCGR-N312S | homozygous | 0.573 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests |
| 0.5 | HK2-D532Shift | het unknown | 0.044 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Frameshift |
| 0.5 | ALMS1-S524SP | homozygous | 0.578 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | ALMS1-H623R | het unknown | 0.008 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | ALMS1-V671G | homozygous | 0.857 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | ALMS1-R4029K | homozygous | 0.527 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | HMCN1-I2418T | homozygous | 0.553 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: 0.468 (possibly damaging), Testable gene in GeneTests |
| 0.5 | HMCN1-E2893G | homozygous | 0.617 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.91 (probably damaging), Testable gene in GeneTests |
| 0.5 | HMCN1-Q4437R | het unknown | 0.547 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.997 (probably damaging), Testable gene in GeneTests |
| 0.5 | NCF2-H389Q | het unknown | Unknown | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests | |
| 0.5 | NCF2-K181R | homozygous | 0.471 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests |
| 0.5 | EPB41-V214I | het unknown | 0.016 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.899 (probably damaging) |
| 0.5 | COL9A2-L335V | het unknown | 0.070 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | KCNQ4-H455Q | homozygous | 0.156 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: 0.191 (benign), Testable gene in GeneTests with associated GeneReview |
| 0.5 | POMGNT1-M623V | homozygous | 0.878 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests |
| 0.5 | MAST2-D388E | homozygous | 0.882 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 0.5 | MAST2-I659M | het unknown | 0.482 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: 0.033 (benign) |
| 0.5 | MAST2-D1551G | het unknown | 0.016 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.985 (probably damaging) |
| 0.5 | FAM46B-H416R | het unknown | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.968 (probably damaging) | |
| 0.5 | FAM46B-T20K | het unknown | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: 0.105 (benign) | |
| 0.5 | CNKSR1-L264Shift | het unknown | Unknown | Insufficiently evaluated | Prioritization score: 2 Frameshift | |
| 0.5 | CNKSR1-R265Shift | het unknown | Unknown | Insufficiently evaluated | Prioritization score: 2 Frameshift | |
| 0.5 | CAMTA1-S841Shift | het unknown | Unknown | Insufficiently evaluated | Prioritization score: 2 Frameshift | |
| 0.5 | CAMTA1-S841Shift | het unknown | Unknown | Insufficiently evaluated | Prioritization score: 2 Frameshift | |
| 0.5 | CAMTA1-N1177K | het unknown | 0.055 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: 0.047 (benign) |
| 0.5 | GABRD-R220H | het unknown | 0.008 | Unknown benign | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.003 (benign), Testable gene in GeneTests |
| 0.5 | MTHFR-E429A | het unknown | 0.243 | Unknown pharmacogenetic | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.099 (benign), Testable gene in GeneTests |
| 0.5 | CLCNKB-R27L | het unknown | 0.994 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: Unknown, Testable gene in GeneTests |
| 0.5 | CLCNKB-A214G | homozygous | 0.815 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: Unknown, Testable gene in GeneTests |
| 0.5 | CLCNKB-A287V | homozygous | 0.820 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: Unknown, Testable gene in GeneTests |
| 0.5 | CLCNKB-M562T | homozygous | 0.856 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests |
| 0.5 | FUCA1-Q286R | het unknown | 0.205 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: 0.004 (benign), Testable gene in GeneTests |
| 0.5 | FUCA1-P10R | het unknown | 1.000 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.894 (probably damaging), Testable gene in GeneTests |
| 0.5 | FUCA1-R2W | het unknown | 0.079 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.928 (probably damaging), Testable gene in GeneTests |
| 0.5 | HSPG2-R3708Q | het unknown | Unknown | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests | |
| 0.5 | HSPG2-I3264V | het unknown | Unknown | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests | |
| 0.5 | HSPG2-I2038M | het unknown | Unknown | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests | |
| 0.5 | HSPG2-A1503V | homozygous | 0.777 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: Unknown, Testable gene in GeneTests |
| 0.5 | HSPG2-N765S | homozygous | 0.896 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: Unknown, Testable gene in GeneTests |
| 0.5 | HSPG2-M638V | homozygous | 0.978 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: Unknown, Testable gene in GeneTests |
| 0.5 | ALG6-Y131H | het unknown | 0.023 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.01 (benign), Testable gene in GeneTests with associated GeneReview |
| 0.5 | ALG6-S306F | het unknown | Unknown | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview | |
| 0.5 | ALG6-L455V | het unknown | Unknown | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview | |
| 0.5 | DPYD-R29C | het unknown | 0.731 | Complex/Other pharmacogenetic | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests |
| 0.5 | ZNF687-G259E | het unknown | 0.118 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 0.5 | ZNF687-G636S | het unknown | 0.025 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: 0.949 (probably damaging) |
| 0.5 | BNIPL-R189H | het unknown | 0.008 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.998 (probably damaging) |
| 0.5 | LMNA-L15P | homozygous | 0.227 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | LMNA-M174T | homozygous | 0.289 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | TTC24-Q102Shift | het unknown | 0.050 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Frameshift |
| 0.5 | SELP-T756P | het unknown | 0.025 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown |
| 0.5 | SELP-V640L | het unknown | 0.295 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 0.5 | SELP-D603N | homozygous | 0.780 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 0.5 | KCNJ9-A366V | het unknown | 0.018 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown |
| 0.5 | ANXA9-M1V | het unknown | 0.023 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.995 (probably damaging) |
| 0.5 | ANXA9-D166G | het unknown | 0.056 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: 0.992 (probably damaging) |
| 0.5 | SEC22B-D70Y | het unknown | 0.003 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: Unknown |
| 0.5 | SEC22B-T81K | het unknown | 0.500 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 0.5 | SEC22B-R107Q | het unknown | 0.002 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: Unknown |
| 0.5 | SEC22B-C129R | het unknown | 0.085 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 0.5 | SEC22B-R131* | het unknown | 0.019 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Nonsense mutation |
| 0.5 | SEC22B-H189R | het unknown | 0.508 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 0.5 | FNDC7-I146V | het unknown | 0.041 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown |
| 0.5 | FNDC7-R224L | homozygous | 0.564 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 0.5 | FNDC7-S309N | het unknown | 0.185 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 0.5 | FNDC7-V353A | het unknown | 0.600 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 0.5 | DBT-S384G | homozygous | 0.869 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | OVGP1-E676Q | het unknown | 0.652 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 0.5 | OVGP1-M479V | het unknown | 0.148 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: 0.963 (probably damaging) |
| 0.5 | OVGP1-M477T | het unknown | 0.664 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: 0.002 (benign) |
| 0.5 | OVGP1-D332E | het unknown | 0.075 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.997 (probably damaging) |
| 0.5 | PTPN22-W620R | homozygous | 0.970 | Unknown pharmacogenetic | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 0.5 | PDE4DIP-N2065K | het unknown | 0.024 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.968 (probably damaging) |
| 0.5 | PDE4DIP-D1910E | het unknown | 0.500 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 0.5 | PDE4DIP-R1867C | het unknown | 0.500 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: 0.999 (probably damaging) |
| 0.5 | PDE4DIP-A1757T | het unknown | 0.500 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: 0.002 (benign) |
| 0.5 | PDE4DIP-P1726PP | het unknown | Unknown | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: Unknown | |
| 0.5 | PDE4DIP-Q1665Shift | het unknown | 0.328 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 1 Frameshift |
| 0.5 | PDE4DIP-R1504Q | het unknown | 0.904 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 0.5 | PDE4DIP-W1396R | het unknown | 0.667 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 0.5 | PDE4DIP-K1359E | het unknown | 0.500 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: 0.028 (benign) |
| 0.5 | PDE4DIP-A1066T | het unknown | 0.500 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: 0.123 (benign) |
| 0.5 | PDE4DIP-F1013I | het unknown | 0.500 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 0.5 | PDE4DIP-C708R | het unknown | 0.900 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: 0.001 (benign) |
| 0.5 | PDE4DIP-R681H | het unknown | 0.282 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: 0.997 (probably damaging) |
| 0.5 | PDE4DIP-R622* | het unknown | 0.500 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 1 Nonsense mutation |
| 0.5 | PDE4DIP-W560* | het unknown | 0.269 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 1 Nonsense mutation |
| 0.5 | PDE4DIP-S536T | het unknown | 0.500 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: 0.914 (probably damaging) |
| 0.5 | PDE4DIP-A487Shift | het unknown | 0.295 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 1 Frameshift |
| 0.5 | PDE4DIP-H482R | het unknown | 0.500 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 0.5 | PDE4DIP-E410V | het unknown | 0.500 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: 0.995 (probably damaging) |
| 0.5 | PDE4DIP-R295H | het unknown | 0.254 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: 0.003 (benign) |
| 0.5 | PDE4DIP-S275L | het unknown | 0.500 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: 0.419 (possibly damaging) |
| 0.5 | PDE4DIP-R25L | het unknown | 0.500 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: 1.0 (probably damaging) |
| 0.5 | VANGL1-A116T | het unknown | 0.097 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.002 (benign), Testable gene in GeneTests |
| 0.5 | ABCB11-V444A | homozygous | 0.606 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: 0.002 (benign), Testable gene in GeneTests with associated GeneReview |
| 0.5 | ITGA6-A380T | homozygous | 0.253 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | ITGA6-T506I | het unknown | Unknown | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview | |
| 0.5 | FAM175A-D373N | het unknown | 0.039 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: 0.899 (probably damaging) |
| 0.5 | ADH1B-H48R | homozygous | 0.678 | Unknown pharmacogenetic | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 0.5 | HADH-L86P | homozygous | 0.859 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | SYNPO2-R147Del | het unknown | 0.273 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 0.5 | SYNPO2-T573A | het unknown | 0.829 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 0.5 | SYNPO2-R1009W | het unknown | 0.016 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.986 (probably damaging) |
| 0.5 | CFI-T300A | homozygous | 0.957 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | BMP3-Y67N | het unknown | 0.016 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.987 (probably damaging) |
| 0.5 | BMP3-L205F | homozygous | 0.998 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: 0.17 (benign) |
| 0.5 | AMBN-L354P | het unknown | 0.023 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: 0.984 (probably damaging) |
| 0.5 | WFS1-V333I | homozygous | 0.889 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | WFS1-R611H | het unknown | 0.442 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 4 Polyphen 2: 0.99 (probably damaging), Testable gene in GeneTests with associated GeneReview |
| 0.5 | EVC-Y258H | homozygous | 0.721 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: 0.985 (probably damaging), Testable gene in GeneTests |
| 0.5 | EVC-T449K | homozygous | 0.871 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests |
| 0.5 | GPR125-K852N | het unknown | 0.008 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.989 (probably damaging) |
| 0.5 | GPR125-A755V | het unknown | 0.070 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: 0.006 (benign) |
| 0.5 | TLR6-S249P | homozygous | 0.855 | Unknown pharmacogenetic | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 0.5 | UGT2B11-P358S | het unknown | 0.008 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 1.0 (probably damaging) |
| 0.5 | OPTN-K322E | homozygous | 0.986 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests |
| 0.5 | HSPA4L-L211S | het unknown | 0.693 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 0.5 | HSPA4L-I601T | het unknown | 0.018 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown |
| 0.5 | NR3C2-V180I | homozygous | 0.883 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests |
| 0.5 | HEXB-L62S | homozygous | 0.978 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests |
| 0.5 | HEXB-K121R | het unknown | 0.227 | Unknown benign | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests |
| 0.5 | AP3B1-K804Del | het unknown | 0.016 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | AP3B1-V585E | homozygous | 0.806 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: 0.002 (benign), Testable gene in GeneTests with associated GeneReview |
| 0.5 | ARSB-V376M | het unknown | 0.066 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.001 (benign), Testable gene in GeneTests |
| 0.5 | ERAP2-K392N | homozygous | 0.540 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 0.5 | ERAP2-N501Shift | het unknown | 0.024 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Frameshift |
| 0.5 | GPR98-L1093F | homozygous | 0.835 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | GPR98-V1951I | homozygous | 0.820 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | GPR98-N1985D | het unknown | 0.259 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.005 (benign), Testable gene in GeneTests with associated GeneReview |
| 0.5 | GPR98-L2004F | het unknown | 0.341 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.841 (possibly damaging), Testable gene in GeneTests with associated GeneReview |
| 0.5 | GPR98-N2584S | homozygous | 0.825 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | GPR98-S2764L | het unknown | 0.081 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: 0.002 (benign), Testable gene in GeneTests with associated GeneReview |
| 0.5 | GPR98-V3094I | het unknown | 0.039 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | GPR98-G3248D | het unknown | 0.232 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: 0.961 (probably damaging), Testable gene in GeneTests with associated GeneReview |
| 0.5 | GPR98-E3471K | homozygous | 0.834 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | GPR98-E5344G | homozygous | 0.903 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.003 (benign), Testable gene in GeneTests with associated GeneReview |
| 0.5 | GPR98-V5427M | homozygous | 0.918 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | GPR98-V5876I | het unknown | 0.424 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: 0.94 (probably damaging), Testable gene in GeneTests with associated GeneReview |
| 0.5 | NM_001080479-R621Q | het unknown | 0.008 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.994 (probably damaging) |
| 0.5 | HEATR7B2-D1529G | het unknown | 0.016 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.991 (probably damaging) |
| 0.5 | HEATR7B2-L1179P | homozygous | 0.779 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 0.5 | HEATR7B2-F890L | het unknown | 0.040 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.995 (probably damaging) |
| 0.5 | HEATR7B2-R526H | het unknown | 0.199 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: 0.947 (probably damaging) |
| 0.5 | HEATR7B2-V496I | homozygous | 0.780 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 0.5 | HEATR7B2-E468V | het unknown | 0.033 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: 0.025 (benign) |
| 0.5 | HEATR7B2-W191R | homozygous | 0.786 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 0.5 | HEATR7B2-M11V | het unknown | 0.216 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: 0.129 (benign) |
| 0.5 | AGA-T149S | homozygous | 0.925 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests |
| 0.5 | FGB-R478K | homozygous | 0.146 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests |
| 0.5 | MTRR-S284T | het unknown | 0.050 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | MTRR-K377R | het unknown | 0.260 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | MTRR-R442C | het unknown | 0.071 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | MTRR-P477R | het unknown | 0.090 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | MTRR-H622Y | het unknown | 0.218 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | DNAH5-I4450V | homozygous | 0.481 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | DNAH5-A4134V | homozygous | 0.450 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | DNAH5-L2862F | het unknown | 0.212 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.006 (benign), Testable gene in GeneTests with associated GeneReview |
| 0.5 | DNAH5-T558A | het unknown | 0.395 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.791 (possibly damaging), Testable gene in GeneTests with associated GeneReview |
| 0.5 | DNAH5-G24E | homozygous | 0.496 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | DNAH5-H12Q | homozygous | 0.896 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | SPEF2-N71H | het unknown | 0.689 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 0.5 | SPEF2-R421H | het unknown | 0.016 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.999 (probably damaging) |
| 0.5 | SPEF2-A904V | het unknown | 0.786 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 0.5 | SPEF2-A934P | het unknown | 0.764 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 0.5 | AMACR-E277K | homozygous | 0.724 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests |
| 0.5 | AMACR-L201S | homozygous | 0.738 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests |
| 0.5 | AMACR-G175D | homozygous | 0.257 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests |
| 0.5 | AMACR-V9M | homozygous | 0.368 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests |
| 0.5 | DOK7-R38G | het unknown | 0.208 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 4 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | DOK7-R38G | het unknown | 0.208 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 4 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | HTT-V2786I | het unknown | 0.193 | Unknown pharmacogenetic | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | COL4A3-L141P | homozygous | 0.760 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | COL4A3-E162G | homozygous | 0.764 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | COL4A3-R408H | het unknown | 0.064 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | COL4A3-H451R | het unknown | 0.090 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | COL4A3-P574L | het unknown | 0.358 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | UGT1A1-G8Shift | het unknown | Unknown | Insufficiently evaluated | Prioritization score: 3 Frameshift, Testable gene in GeneTests | |
| 0.5 | UGT1A1-R9V | het unknown | Unknown | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests | |
| 0.5 | LRRFIP1-Q275R | het unknown | 0.041 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.993 (probably damaging) |
| 0.5 | LRRFIP1-R690T | het unknown | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: Unknown | |
| 0.5 | LRRFIP1-H783D | het unknown | 0.385 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: 0.003 (benign) |
| 0.5 | XPC-Q939K | homozygous | 0.683 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | SUMF1-S63N | het unknown | 0.088 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.697 (possibly damaging), Testable gene in GeneTests |
| 0.5 | COL4A4-S1400P | het unknown | 0.504 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | COL4A4-V1327M | het unknown | 0.464 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | COL4A4-P1004L | het unknown | 0.528 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | COL4A4-P482S | homozygous | 0.493 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | OBSL1-R1767Q | het unknown | 0.491 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | OBSL1-Q1578R | homozygous | 0.968 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | OBSL1-E1365D | homozygous | 0.723 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | OBSL1-R723K | homozygous | 0.770 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | COL3A1-A698T | het unknown | 0.181 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | COL3A1-H1353Q | homozygous | 0.990 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | NEUROD1-T45A | homozygous | 0.754 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests |
| 0.5 | MAP2-M1099V | het unknown | 0.042 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown |
| 0.5 | CPS1-T344A | homozygous | 0.583 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: 0.302 (possibly damaging), Testable gene in GeneTests with associated GeneReview |
| 0.5 | STK36-K295R | het unknown | 0.217 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: 0.019 (benign) |
| 0.5 | STK36-R477W | het unknown | 0.043 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.999 (probably damaging) |
| 0.5 | STK36-R583Q | homozygous | 0.474 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: 0.892 (probably damaging) |
| 0.5 | STK36-G1003D | het unknown | 0.167 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: 0.061 (benign) |
| 0.5 | STK36-R1112Q | het unknown | 0.085 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: 0.124 (benign) |
| 0.5 | ABCA12-S777T | homozygous | 1.000 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | CCBP2-P222Shift | het unknown | 0.023 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Frameshift |
| 0.5 | CCBP2-Y373S | het unknown | 0.421 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 0.5 | MAP4-V628I | homozygous | 0.372 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: 0.92 (probably damaging) |
| 0.5 | MAP4-E441Q | het unknown | 0.046 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.931 (probably damaging) |
| 0.5 | MAP4-S427Y | homozygous | 0.220 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: 0.003 (benign) |
| 0.5 | MAP4-R23Q | het unknown | 0.050 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.999 (probably damaging) |
| 0.5 | VWA5B2-G90S | het unknown | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown | |
| 0.5 | VWA5B2-P200S | het unknown | 0.205 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 0.5 | HSPBAP1-P456PS | het unknown | Unknown | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: Unknown | |
| 0.5 | HSPBAP1-L243V | het unknown | 0.047 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.916 (probably damaging) |
| 0.5 | ALG3-I107V | het unknown | 0.016 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.02 (benign), Testable gene in GeneTests with associated GeneReview |
| 0.5 | OPA1-S158N | homozygous | 0.482 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: 0.002 (benign), Testable gene in GeneTests with associated GeneReview |
| 0.5 | IDUA-H33Q | homozygous | 0.750 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: 0.008 (benign), Testable gene in GeneTests with associated GeneReview |
| 0.5 | CPN2-V536M | het unknown | 0.262 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: 0.935 (probably damaging), Testable gene in GeneTests |
| 0.5 | CPN2-Q509R | het unknown | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests | |
| 0.5 | CPN2-Q509R | het unknown | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests | |
| 0.5 | CPN2-A305T | het unknown | 0.359 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.005 (benign), Testable gene in GeneTests |
| 0.5 | CASR-E1011Q | homozygous | 0.916 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests |
| 0.5 | HGD-Q80H | homozygous | 0.742 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | DNAH1-V441L | het unknown | 0.025 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown |
| 0.5 | DNAH1-R1285W | het unknown | 0.017 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: Unknown |
| 0.5 | DNAH1-N2384S | het unknown | 0.062 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 0.5 | DNAH1-R3744C | het unknown | 0.030 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown |
| 0.5 | DNAH1-H3832R | homozygous | 0.994 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 0.5 | COL7A1-R1120K | het unknown | 0.010 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | COL7A1-P268S | het unknown | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview | |
| 0.5 | GBE1-I334V | homozygous | 0.979 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | GBE1-R190G | het unknown | 0.321 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: 0.025 (benign), Testable gene in GeneTests with associated GeneReview |
| 0.5 | NR_015394-G45W | het unknown | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: Unknown | |
| 0.5 | NR_015394-F74S | het unknown | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: Unknown | |
| 0.5 | NR_015394-T113Shift | het unknown | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Frameshift | |
| 0.5 | SPICE1-Q636P | het unknown | Unknown | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: Unknown | |
| 0.5 | SPICE1-R472G | het unknown | 0.012 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.883 (probably damaging) |
| 0.5 | RETNLB-L14Shift | het unknown | 0.047 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Frameshift |
| 0.5 | TOPORS-N749D | het unknown | 0.007 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.334 (possibly damaging), Testable gene in GeneTests |
| 0.5 | CSNK1A1L-R170S | het unknown | 0.091 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.9 (probably damaging) |
| 0.5 | CSNK1A1L-D42E | het unknown | 0.614 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 0.5 | ZNF274-V42I | het unknown | 0.142 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: 0.562 (possibly damaging) |
| 0.5 | ZNF274-Q45R | het unknown | 0.016 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown |
| 0.5 | GALC-T641A | homozygous | 0.892 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | AX747031-Y95* | het unknown | 0.016 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Nonsense mutation |
| 0.5 | ZNF471-M192I | het unknown | 0.213 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: 0.036 (benign) |
| 0.5 | ZNF471-G406D | homozygous | 0.412 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 0.5 | ZNF471-P430R | het unknown | 0.008 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.995 (probably damaging) |
| 0.5 | ZNF471-S556C | het unknown | 0.054 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: 0.002 (benign) |
| 0.5 | TSHR-P52T | het unknown | 0.039 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests |
| 0.5 | TSHR-E727D | homozygous | 0.895 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests |
| 0.5 | ZNF544-Q700R | homozygous | 0.538 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: 0.004 (benign) |
| 0.5 | ZNF544-R708W | het unknown | 0.016 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.999 (probably damaging) |
| 0.5 | MLH3-N826D | homozygous | 0.981 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | NETO1-S481N | homozygous | 0.975 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 0.5 | NETO1-V477I | het unknown | 0.016 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.74 (possibly damaging) |
| 0.5 | ESRRB-P386S | het unknown | 0.058 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.069 (benign), Testable gene in GeneTests |
| 0.5 | DEFB126-P106Shift | het unknown | 0.023 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Frameshift |
| 0.5 | CTDP1-S61A | het unknown | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview | |
| 0.5 | CTDP1-T340M | het unknown | 0.085 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: 0.006 (benign), Testable gene in GeneTests with associated GeneReview |
| 0.5 | LENG1-E97K | het unknown | 0.023 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.968 (probably damaging) |
| 0.5 | STRC-Q84R | homozygous | 1.000 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | GPATCH8-C1161W | het unknown | 0.012 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.999 (probably damaging) |
| 0.5 | GPATCH8-H687R | het unknown | Unknown | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: Unknown | |
| 0.5 | DUOX2-S1067L | homozygous | 0.662 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: Unknown, Testable gene in GeneTests |
| 0.5 | DUOX2-P138L | homozygous | 0.926 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests |
| 0.5 | SLC28A2-P22L | homozygous | 0.248 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 0.5 | SLC28A2-S75R | homozygous | 0.253 | Unknown pharmacogenetic | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 0.5 | TMEM160-G120S | het unknown | 0.068 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.866 (probably damaging) |
| 0.5 | CARD8-V43Shift | het unknown | 0.031 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Frameshift |
| 0.5 | MYH14-G341R | het unknown | Unknown | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests | |
| 0.5 | MYH14-A1250E | het unknown | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests | |
| 0.5 | NM_001080841-R42C | het unknown | 0.328 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 0.5 | NM_001080841-V80A | het unknown | 0.197 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 0.5 | NM_001080841-R85C | het unknown | 0.209 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 0.5 | NM_001080841-R102* | het unknown | 0.026 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Nonsense mutation |
| 0.5 | TJP1-I790V | het unknown | 0.094 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.984 (probably damaging) |
| 0.5 | FUT2-W154* | homozygous | 0.364 | Unknown pharmacogenetic | Insufficiently evaluated | Prioritization score: 1 Nonsense mutation |
| 0.5 | FUT2-G258S | homozygous | 0.390 | Unknown pharmacogenetic | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: 0.954 (probably damaging) |
| 0.5 | HRC-S358P | het unknown | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: 0.219 (possibly damaging) | |
| 0.5 | HRC-D323G | het unknown | Unknown | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: Unknown | |
| 0.5 | HRC-Q322G | het unknown | Unknown | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: Unknown | |
| 0.5 | HRC-N305D | het unknown | Unknown | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: Unknown | |
| 0.5 | HRC-H300HKEE | het unknown | 0.016 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: Unknown |
| 0.5 | HRC-S299G | het unknown | 0.016 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: 0.003 (benign) |
| 0.5 | HRC-GS220RK | het unknown | 0.016 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: Unknown |
| 0.5 | HRC-R217G | het unknown | 0.016 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.975 (probably damaging) |
| 0.5 | HRC-E204EE | het unknown | Unknown | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: Unknown | |
| 0.5 | HRC-S96A | homozygous | 0.340 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: 0.195 (benign) |
| 0.5 | HRC-S43N | homozygous | 0.484 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 0.5 | ZFYVE26-N1891S | homozygous | 0.900 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests |
| 0.5 | ZFYVE26-V1645G | het unknown | 0.016 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: 0.006 (benign), Testable gene in GeneTests |
| 0.5 | ZFYVE26-C1457Y | het unknown | 0.136 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.005 (benign), Testable gene in GeneTests |
| 0.5 | ZFYVE26-T898S | het unknown | 0.046 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: 0.293 (possibly damaging), Testable gene in GeneTests |
| 0.5 | SPTB-H1374R | het unknown | 0.014 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown |
| 0.5 | RPGRIP1-K192E | homozygous | 0.446 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | RPGRIP1-E1033Q | homozygous | 0.256 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | PSMB5-R24C | het unknown | 0.035 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.982 (probably damaging) |
| 0.5 | ACIN1-S647SRS | het unknown | Unknown | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: Unknown | |
| 0.5 | ACIN1-S478F | het unknown | 0.057 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.981 (probably damaging) |
| 0.5 | ACIN1-S467P | het unknown | 0.431 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: 0.96 (probably damaging) |
| 0.5 | ACIN1-A447P | homozygous | 0.997 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 0.5 | ACIN1-I311M | het unknown | 0.505 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 0.5 | ACIN1-E281Del | het unknown | 0.061 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 0.5 | PCK2-Q121P | homozygous | 1.000 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests |
| 0.5 | NR_028064-G139Shift | het unknown | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Frameshift | |
| 0.5 | NR_028064-H49Q | homozygous | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: Unknown | |
| 0.5 | NR_028064-H41Shift | het unknown | Unknown | Insufficiently evaluated | Prioritization score: 2 Frameshift | |
| 0.5 | COL4A1-M1212L | het unknown | Unknown | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview | |
| 0.5 | COL4A1-T555P | homozygous | 0.994 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | SUCLA2-S199T | homozygous | 0.722 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | SEC23B-V426I | het unknown | 0.016 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown |
| 0.5 | SEC23B-H489Q | het unknown | 0.124 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: 1.0 (probably damaging) |
| 0.5 | DOCK9-R18W | het unknown | 0.044 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.999 (probably damaging) |
| 0.5 | CSRP2BP-V400G | homozygous | 0.991 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 0.5 | CSRP2BP-P600R | het unknown | 0.031 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: 0.999 (probably damaging) |
| 0.5 | CMA1-G46R | het unknown | 0.008 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.928 (probably damaging) |
| 0.5 | OTOR-M1T | het unknown | 0.025 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: 0.946 (probably damaging) |
| 0.5 | OTOR-L31P | het unknown | 0.171 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: 0.974 (probably damaging) |
| 0.5 | FANCM-S175F | het unknown | 0.242 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | FANCM-T176I | het unknown | Unknown | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview | |
| 0.5 | FANCM-V878L | het unknown | 0.268 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | FANCM-I1460V | het unknown | 0.078 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.013 (benign), Testable gene in GeneTests with associated GeneReview |
| 0.5 | FANCM-P1812A | het unknown | 0.062 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: 0.958 (probably damaging), Testable gene in GeneTests with associated GeneReview |
| 0.5 | TBX21-H33Q | het unknown | 0.053 | Unknown pharmacogenetic | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: 0.251 (possibly damaging) |
| 0.5 | NPEPPS-M241T | het unknown | 0.040 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 1.0 (probably damaging) |
| 0.5 | SYNE2-M1969T | homozygous | 0.637 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.991 (probably damaging), Testable gene in GeneTests |
| 0.5 | SYNE2-A2284V | homozygous | 0.637 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: 0.289 (possibly damaging), Testable gene in GeneTests |
| 0.5 | SYNE2-S2359N | homozygous | 0.676 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: 0.697 (possibly damaging), Testable gene in GeneTests |
| 0.5 | SYNE2-A2395T | homozygous | 0.835 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: Unknown, Testable gene in GeneTests |
| 0.5 | SYNE2-S2802G | homozygous | 0.864 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: 0.012 (benign), Testable gene in GeneTests |
| 0.5 | SYNE2-I2942V | homozygous | 0.622 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: Unknown, Testable gene in GeneTests |
| 0.5 | SYNE2-D3253H | homozygous | 0.684 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.933 (probably damaging), Testable gene in GeneTests |
| 0.5 | SYNE2-H3309R | homozygous | 0.647 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: 0.001 (benign), Testable gene in GeneTests |
| 0.5 | GNRH2-A16V | het unknown | 0.229 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: 0.697 (possibly damaging) |
| 0.5 | GNRH2-S116Shift | het unknown | 0.031 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Frameshift |
| 0.5 | PAX9-A240P | homozygous | 0.323 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests |
| 0.5 | KIF16B-Q697Shift | het unknown | Unknown | Insufficiently evaluated | Prioritization score: 2 Frameshift | |
| 0.5 | KIF16B-R696Shift | het unknown | Unknown | Insufficiently evaluated | Prioritization score: 2 Frameshift | |
| 0.5 | PRKD1-H891R | het unknown | 0.016 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown |
| 0.5 | COCH-T352S | homozygous | 0.382 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests |
| 0.5 | SIGLEC1-A974V | het unknown | 0.547 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: 0.011 (benign) |
| 0.5 | SIGLEC1-H919P | het unknown | 0.746 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 0.5 | SIGLEC1-R464H | het unknown | 0.055 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 1.0 (probably damaging) |
| 0.5 | SIGLEC1-K239R | homozygous | 0.601 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: 0.001 (benign) |
| 0.5 | SIGLEC1-V221M | homozygous | 0.706 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: 0.03 (benign) |
| 0.5 | PANK2-G126A | homozygous | 0.917 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | FBN1-C472Y | homozygous | 1.000 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | CEP152-S54L | het unknown | 0.056 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | GPR56-S281R | het unknown | 0.750 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | GPR56-Q306H | het unknown | 0.094 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | CYP4F12-P13L | het unknown | 0.192 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: 0.01 (benign) |
| 0.5 | CYP4F12-T16M | homozygous | 0.949 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 0.5 | CYP4F12-N76D | homozygous | 0.945 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 0.5 | CYP4F12-I90V | homozygous | 0.947 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 0.5 | CYP4F12-S139Shift | het unknown | 0.009 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Frameshift |
| 0.5 | CYP4F12-C188R | homozygous | 0.603 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 0.5 | CYP4F12-S522G | homozygous | 0.601 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 0.5 | NOTCH3-A2223V | homozygous | 0.553 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | HYDIN-E4159Q | het unknown | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: Unknown | |
| 0.5 | HYDIN-K4087R | het unknown | 0.206 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 0.5 | HYDIN-T4004A | het unknown | 0.432 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 0.5 | HYDIN-Q3904Shift | het unknown | 0.500 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 1 Frameshift |
| 0.5 | HYDIN-M3868R | het unknown | 0.306 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 0.5 | HYDIN-V3839L | het unknown | 0.500 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 0.5 | HYDIN-V3741I | het unknown | 0.500 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 0.5 | HYDIN-A3738T | het unknown | 0.500 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 0.5 | HYDIN-L3315P | het unknown | 0.500 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 0.5 | HYDIN-A3290P | het unknown | 0.500 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 0.5 | HYDIN-I2693S | het unknown | 0.500 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 0.5 | HYDIN-K2588R | het unknown | 0.500 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 0.5 | HYDIN-D2569N | het unknown | 0.500 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 0.5 | HYDIN-G2557E | het unknown | 0.994 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 0.5 | HYDIN-TEKER2520Del | het unknown | 0.644 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 0.5 | HYDIN-L2501S | het unknown | 0.500 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 0.5 | HYDIN-P2454Q | homozygous | 1.000 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: 0.001 (benign) |
| 0.5 | HYDIN-N2444I | het unknown | 0.500 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: 0.001 (benign) |
| 0.5 | HYDIN-E2305G | het unknown | 0.347 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: 0.988 (probably damaging) |
| 0.5 | HYDIN-R2297G | het unknown | 0.500 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: 0.997 (probably damaging) |
| 0.5 | HYDIN-Q2241R | het unknown | 0.500 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: 0.001 (benign) |
| 0.5 | HYDIN-V2098M | het unknown | 0.500 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: 0.001 (benign) |
| 0.5 | HYDIN-R2086C | het unknown | 0.500 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: 0.998 (probably damaging) |
| 0.5 | HYDIN-R1951Q | het unknown | 0.012 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.269 (possibly damaging) |
| 0.5 | HYDIN-I1533V | het unknown | 0.500 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: 0.001 (benign) |
| 0.5 | HYDIN-P1491H | het unknown | 0.347 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: 0.994 (probably damaging) |
| 0.5 | HYDIN-V1228L | het unknown | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: Unknown | |
| 0.5 | HYDIN-I1077V | het unknown | 0.500 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: 0.082 (benign) |
| 0.5 | HYDIN-N724D | het unknown | 0.500 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: 0.955 (probably damaging) |
| 0.5 | HYDIN-T690A | het unknown | 0.500 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: 0.955 (probably damaging) |
| 0.5 | HYDIN-T584N | het unknown | 0.048 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.955 (probably damaging) |
| 0.5 | CETP-V422I | homozygous | 0.494 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests |
| 0.5 | RPGRIP1L-R744Q | het unknown | 0.071 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: 0.991 (probably damaging), Testable gene in GeneTests with associated GeneReview |
| 0.5 | ZNF737-K516E | het unknown | 0.383 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 0.5 | ZNF737-Y369C | het unknown | 0.023 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.999 (probably damaging) |
| 0.5 | ZNF737-C78G | het unknown | 0.076 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: 0.98 (probably damaging) |
| 0.5 | CUBN-E3002G | het unknown | 0.088 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: Unknown, Testable gene in GeneTests |
| 0.5 | CUBN-I2984V | het unknown | 0.062 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests |
| 0.5 | CUBN-A2914V | het unknown | 0.016 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests |
| 0.5 | CUBN-S2717W | homozygous | 0.998 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests |
| 0.5 | CUBN-C2162Y | homozygous | 1.000 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: Unknown, Testable gene in GeneTests |
| 0.5 | CUBN-L2153F | het unknown | 0.102 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: Unknown, Testable gene in GeneTests |
| 0.5 | CUBN-P1559S | homozygous | 0.565 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: Unknown, Testable gene in GeneTests |
| 0.5 | CUBN-P389T | homozygous | 0.513 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests |
| 0.5 | CUBN-F253S | het unknown | 0.801 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: Unknown, Testable gene in GeneTests |
| 0.5 | KRT13-T298A | homozygous | 0.835 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: Unknown, Testable gene in GeneTests |
| 0.5 | KRT13-A187V | het unknown | 0.715 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: Unknown, Testable gene in GeneTests |
| 0.5 | KRT13-A146G | het unknown | 0.054 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests |
| 0.5 | SALL1-V1275I | homozygous | 0.983 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | BCAR1-R491H | het unknown | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown | |
| 0.5 | MAN2B1-R337Q | homozygous | 0.237 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: 0.027 (benign), Testable gene in GeneTests with associated GeneReview |
| 0.5 | MAN2B1-T312I | homozygous | 0.324 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.045 (benign), Testable gene in GeneTests with associated GeneReview |
| 0.5 | MAN2B1-L278V | het unknown | 0.236 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | CLEC4M-Y251C | het unknown | 0.024 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.998 (probably damaging) |
| 0.5 | STXBP2-I526V | homozygous | 0.725 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | VMAC-R109H | het unknown | 0.018 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.99 (probably damaging) |
| 0.5 | CCDC55-K86T | het unknown | 0.027 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.932 (probably damaging) |
| 0.5 | RABEP1-M628I | het unknown | 0.032 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.991 (probably damaging) |
| 0.5 | CTNS-T260I | homozygous | 0.825 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | CTNS-P380A | het unknown | 0.203 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | GCSH-S21L | homozygous | 0.750 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | JSRP1-G150A | het unknown | 0.323 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: 0.831 (possibly damaging) |
| 0.5 | JSRP1-P108L | het unknown | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.997 (probably damaging) | |
| 0.5 | JSRP1-V92A | het unknown | 0.193 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: 0.6 (possibly damaging) |
| 0.5 | JSRP1-G45S | het unknown | 0.075 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 0.5 | LRRC50-K393R | homozygous | 0.321 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.683 (possibly damaging), Testable gene in GeneTests with associated GeneReview |
| 0.5 | LRRC50-P502L | homozygous | 0.272 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.005 (benign), Testable gene in GeneTests with associated GeneReview |
| 0.5 | LRRC50-L633S | homozygous | 0.261 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | LRRC50-L659P | homozygous | 0.352 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | LRRC50-S675T | homozygous | 0.363 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.001 (benign), Testable gene in GeneTests with associated GeneReview |
| 0.5 | ADAMTS10-H1101Q | homozygous | 1.000 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | ADAMTS10-T134S | homozygous | 0.910 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: 0.001 (benign), Testable gene in GeneTests with associated GeneReview |
| 0.5 | ADAMTS10-R62Q | het unknown | 0.016 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.023 (benign), Testable gene in GeneTests with associated GeneReview |
| 0.5 | MPND-P423L | het unknown | 0.016 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.999 (probably damaging) |
| 0.5 | ABCC6-R1268Q | het unknown | 0.142 | Unknown pharmacogenetic | Low clinical importance, uncertain | This common polymorphism appears to not have a significant phenotypic impact. A few studies report weak but significant associations with plasma lipids (in Inuits) and thalidomide toxicity. |
| 0.5 | ABCC6-M848V | homozygous | 0.954 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | ABCC6-H632Q | homozygous | 0.342 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | ABCC6-V614A | homozygous | 0.354 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | ZNF100-M8V | het unknown | 0.033 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown |
| 0.5 | ERCC2-K751Q | het unknown | 0.218 | Unknown pharmacogenetic | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | ERCC2-D312N | het unknown | 0.145 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: 0.032 (benign), Testable gene in GeneTests with associated GeneReview |
| 0.5 | DHX58-Q425R | het unknown | 0.405 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 0.5 | DHX58-R95Q | het unknown | 0.016 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.296 (possibly damaging) |
| 0.5 | LOXL1-G153D | homozygous | 0.269 | Unknown pharmacogenetic | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: 0.135 (benign) |
| 0.5 | CYP1A1-R464S | het unknown | 0.008 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: 0.96 (probably damaging) |
| 0.5 | CD300LG-R82C | het unknown | 0.016 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.991 (probably damaging) |
| 0.5 | CD300LG-T228A | het unknown | 0.295 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: 0.012 (benign) |
| 0.5 | HEXA-I436V | homozygous | 0.748 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | NEDD4-N626S | homozygous | 0.702 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 0.5 | NEDD4-R607Q | homozygous | 0.701 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 0.5 | NEDD4-M33V | het unknown | 0.037 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown |
| 0.5 | APH1B-T27I | het unknown | 0.018 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.993 (probably damaging) |
| 0.5 | SLC24A1-S332Shift | het unknown | 0.019 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Frameshift |
| 0.5 | SLC24A1-E886EQEEEEEEEE | het unknown | Unknown | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: Unknown | |
| 0.5 | NR2E3-T318Shift | homozygous | 1.000 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Frameshift, Testable gene in GeneTests |
| 0.5 | KIAA1024-N258H | het unknown | 0.016 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.914 (probably damaging) |
| 0.5 | ZNF224-M118V | homozygous | 0.793 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 0.5 | ZNF224-H162L | homozygous | 0.780 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: 0.262 (possibly damaging) |
| 0.5 | ZNF224-K640E | homozygous | 0.593 | Unknown pharmacogenetic | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 0.5 | GSPT1-V100A | homozygous | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: Unknown | |
| 0.5 | GSPT1-G92C | het unknown | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.999 (probably damaging) | |
| 0.5 | ZNF792-N425D | het unknown | 0.037 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.968 (probably damaging) |
| 0.5 | ZNF792-R177Q | homozygous | 0.715 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 0.5 | MYH11-V1296A | het unknown | 0.017 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | ABCC1-G671V | het unknown | 0.016 | Unknown pharmacogenetic | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: Unknown |
| 0.5 | PRODH2-P91R | het unknown | 0.045 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: 0.243 (possibly damaging), Testable gene in GeneTests |
| 0.5 | ALG1-S267N | het unknown | 0.053 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: 0.001 (benign), Testable gene in GeneTests with associated GeneReview |
| 0.5 | PRX-G1132R | homozygous | 0.978 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | PRX-I921M | homozygous | 0.261 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | PRX-V882A | homozygous | 0.493 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: 0.014 (benign), Testable gene in GeneTests with associated GeneReview |
| 0.5 | PRX-V21L | het unknown | Unknown | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview | |
| 0.5 | ADAMTSL3-H146R | het unknown | 0.706 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: 0.04 (benign) |
| 0.5 | ADAMTSL3-L290V | het unknown | 0.833 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 0.5 | ADAMTSL3-V661L | homozygous | 0.711 | Unknown pharmacogenetic | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 0.5 | ADAMTSL3-T1660I | het unknown | 0.106 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: 0.001 (benign) |
| 0.5 | GRIN3B-P154S | het unknown | 0.009 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: 0.074 (benign) |
| 0.5 | GRIN3B-A319T | het unknown | 0.036 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: Unknown |
| 0.5 | GRIN3B-R404W | homozygous | 0.360 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: 0.976 (probably damaging) |
| 0.5 | GRIN3B-W414R | homozygous | 0.681 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 0.5 | GRIN3B-G466Shift | het unknown | 0.023 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Frameshift |
| 0.5 | GRIN3B-T577M | homozygous | 0.347 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: 0.001 (benign) |
| 0.5 | GRIN3B-Y966N | het unknown | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: Unknown | |
| 0.5 | GRIN3B-Q1006E | het unknown | 0.433 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: 0.051 (benign) |
| 0.5 | PKD1-I4045V | het unknown | 0.250 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | PKD1-R739Q | homozygous | 1.000 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.001 (benign), Testable gene in GeneTests with associated GeneReview |
| 0.5 | NDUFS7-P23L | homozygous | 0.437 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.001 (benign), Testable gene in GeneTests |
| 0.5 | C13orf40-K6544E | het unknown | Unknown | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: Unknown | |
| 0.5 | C13orf40-R6075C | het unknown | Unknown | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: Unknown | |
| 0.5 | C13orf40-L6011P | homozygous | Unknown | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: Unknown | |
| 0.5 | C13orf40-F5916L | homozygous | Unknown | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: Unknown | |
| 0.5 | C13orf40-D5871Shift | het unknown | Unknown | Insufficiently evaluated | Prioritization score: 2 Frameshift | |
| 0.5 | C13orf40-R5838Q | het unknown | Unknown | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: Unknown | |
| 0.5 | C13orf40-N5750S | homozygous | Unknown | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: Unknown | |
| 0.5 | C13orf40-R5644T | homozygous | Unknown | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: Unknown | |
| 0.5 | C13orf40-S4943P | homozygous | Unknown | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: Unknown | |
| 0.5 | C13orf40-A4221S | het unknown | Unknown | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: Unknown | |
| 0.5 | C13orf40-V3805I | homozygous | Unknown | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: Unknown | |
| 0.5 | C13orf40-K3640N | het unknown | Unknown | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: Unknown | |
| 0.5 | C13orf40-D3446E | het unknown | Unknown | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: Unknown | |
| 0.5 | C13orf40-T3015I | homozygous | Unknown | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: Unknown | |
| 0.5 | C13orf40-T2812P | homozygous | Unknown | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: Unknown | |
| 0.5 | C13orf40-G2410R | homozygous | Unknown | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: Unknown | |
| 0.5 | C13orf40-E2111Q | homozygous | Unknown | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: Unknown | |
| 0.5 | C13orf40-A1822P | homozygous | Unknown | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: Unknown | |
| 0.5 | C13orf40-C1275* | het unknown | Unknown | Insufficiently evaluated | Prioritization score: 2 Nonsense mutation | |
| 0.5 | C13orf40-R1070S | het unknown | Unknown | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: Unknown | |
| 0.5 | C13orf40-L1005P | het unknown | Unknown | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: Unknown | |
| 0.5 | C13orf40-P773L | homozygous | Unknown | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: Unknown | |
| 0.5 | C13orf40-I96V | het unknown | Unknown | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: Unknown | |
| 0.5 | C13orf40-C82S | het unknown | Unknown | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: Unknown | |
| 0.5 | DNAI2-A558T | homozygous | 0.674 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | SLC6A5-F124S | homozygous | 0.803 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | SLC6A5-A162G | homozygous | 0.997 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | MYO18B-W547C | homozygous | 0.929 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 0.5 | MYO18B-W661R | homozygous | 0.916 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 0.5 | MYO18B-S925L | het unknown | 0.159 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: 0.419 (possibly damaging) |
| 0.5 | MYO18B-H1119Q | het unknown | 0.632 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: 0.001 (benign) |
| 0.5 | MYO18B-Q2347R | homozygous | 0.486 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 0.5 | MYO18B-R2532Q | het unknown | 0.039 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.996 (probably damaging) |
| 0.5 | PRODH-R521Q | homozygous | 0.887 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests |
| 0.5 | PRODH-W185R | het unknown | 0.826 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: Unknown, Testable gene in GeneTests |
| 0.5 | PRODH-P30S | het unknown | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests | |
| 0.5 | PCNT-H237Q | het unknown | 0.033 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: 0.088 (benign), Testable gene in GeneTests |
| 0.5 | PCNT-T539I | het unknown | 0.147 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: 0.009 (benign), Testable gene in GeneTests |
| 0.5 | PCNT-G704E | het unknown | 0.855 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: Unknown, Testable gene in GeneTests |
| 0.5 | PCNT-T879A | het unknown | 0.360 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: 0.707 (possibly damaging), Testable gene in GeneTests |
| 0.5 | PCNT-V1038A | het unknown | 0.847 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: Unknown, Testable gene in GeneTests |
| 0.5 | PCNT-R1163C | het unknown | 0.125 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 1.0 (probably damaging), Testable gene in GeneTests |
| 0.5 | PCNT-I1639V | homozygous | 0.383 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: Unknown, Testable gene in GeneTests |
| 0.5 | PCNT-N1841S | het unknown | 0.221 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: Unknown, Testable gene in GeneTests |
| 0.5 | PCNT-R1953H | het unknown | 0.048 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: 0.014 (benign), Testable gene in GeneTests |
| 0.5 | PCNT-L2097P | het unknown | 0.262 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: 0.003 (benign), Testable gene in GeneTests |
| 0.5 | PCNT-H2125P | het unknown | 0.310 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: Unknown, Testable gene in GeneTests |
| 0.5 | PCNT-M2188R | het unknown | 0.186 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: Unknown, Testable gene in GeneTests |
| 0.5 | PCNT-W2239R | het unknown | 0.210 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: 0.003 (benign), Testable gene in GeneTests |
| 0.5 | PCNT-Q2361R | het unknown | 0.262 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: 0.005 (benign), Testable gene in GeneTests |
| 0.5 | PCNT-P2377L | het unknown | 0.039 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: 0.012 (benign), Testable gene in GeneTests |
| 0.5 | PCNT-A2549T | het unknown | 0.237 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: 0.009 (benign), Testable gene in GeneTests |
| 0.5 | PCNT-Q2659H | het unknown | 0.572 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: 0.849 (possibly damaging), Testable gene in GeneTests |
| 0.5 | PCNT-R2753H | het unknown | 0.055 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.999 (probably damaging), Testable gene in GeneTests |
| 0.5 | PCNT-Q2792R | homozygous | 0.732 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: 0.006 (benign), Testable gene in GeneTests |
| 0.5 | HPS5-T1098I | het unknown | 0.016 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: 0.24 (possibly damaging), Testable gene in GeneTests with associated GeneReview |
| 0.5 | HPS4-Q620H | homozygous | 0.806 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: 0.859 (probably damaging), Testable gene in GeneTests with associated GeneReview |
| 0.5 | HPS4-H601Y | homozygous | 0.807 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | HPS4-V547M | homozygous | 0.780 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | HPS4-L438V | het unknown | 0.344 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | HPS4-E224G | homozygous | 0.779 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | TACC2-W1103R | homozygous | 0.964 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: 0.003 (benign) |
| 0.5 | TACC2-P1492L | het unknown | 0.094 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: 0.998 (probably damaging) |
| 0.5 | TACC2-T2482M | het unknown | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.997 (probably damaging) | |
| 0.5 | TACC2-A2732T | het unknown | 0.238 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 0.5 | TRIOBP-S217N | homozygous | 0.413 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.914 (probably damaging), Testable gene in GeneTests |
| 0.5 | TRIOBP-N863K | homozygous | 0.342 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.98 (probably damaging), Testable gene in GeneTests |
| 0.5 | TRIOBP-F1187L | homozygous | 0.320 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.995 (probably damaging), Testable gene in GeneTests |
| 0.5 | TRIOBP-H1300R | homozygous | 0.431 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: 0.006 (benign), Testable gene in GeneTests |
| 0.5 | TRIOBP-W1377R | homozygous | 0.964 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: 0.084 (benign), Testable gene in GeneTests |
| 0.5 | TRIOBP-R1922W | het unknown | Unknown | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests | |
| 0.5 | TRPM5-R578Q | het unknown | 0.439 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: 0.001 (benign) |
| 0.5 | TRPM5-V335L | het unknown | 0.031 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: 0.98 (probably damaging) |
| 0.5 | TRPM5-V254A | homozygous | 0.794 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 0.5 | TRPM5-N235S | het unknown | 0.542 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 0.5 | CHRNA10-E355A | het unknown | 0.039 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.997 (probably damaging) |
| 0.5 | CHRNA10-G347S | het unknown | 0.039 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: 0.098 (benign) |
| 0.5 | PEX16-V116I | homozygous | 1.000 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | TSEN54-E4D | homozygous | 0.675 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | TSEN54-K347N | homozygous | 0.430 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: 0.968 (probably damaging), Testable gene in GeneTests with associated GeneReview |
| 0.5 | TSEN54-A437V | homozygous | 0.515 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.001 (benign), Testable gene in GeneTests with associated GeneReview |
| 0.5 | SCYL1-D633Shift | het unknown | Unknown | Insufficiently evaluated | Prioritization score: 2 Frameshift | |
| 0.5 | SCYL1-A635Shift | het unknown | Unknown | Insufficiently evaluated | Prioritization score: 2 Frameshift | |
| 0.5 | B3GALTL-E370K | homozygous | 0.612 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.088 (benign), Testable gene in GeneTests with associated GeneReview |
| 0.5 | COL6A2-S399N | homozygous | 0.727 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | COL6A2-R680H | het unknown | 0.389 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 4 Polyphen 2: 0.999 (probably damaging), Testable gene in GeneTests with associated GeneReview |
| 0.5 | AIP-Q228K | homozygous | 0.732 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests |
| 0.5 | AIP-Q307R | homozygous | 1.000 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests |
| 0.5 | LSS-P688L | het unknown | 0.012 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 1.0 (probably damaging) |
| 0.5 | LSS-L642V | homozygous | 0.789 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 0.5 | MEN1-T546A | homozygous | 0.791 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | MIF4GD-R128Shift | het unknown | Unknown | Insufficiently evaluated | Prioritization score: 2 Frameshift | |
| 0.5 | MIF4GD-Q126Shift | het unknown | 0.016 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Frameshift |
| 0.5 | SERPING1-V480M | homozygous | 0.108 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.005 (benign), Testable gene in GeneTests |
| 0.5 | MS4A14-I56Shift | het unknown | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Frameshift | |
| 0.5 | MS4A14-N177Y | het unknown | 0.543 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: 0.981 (probably damaging) |
| 0.5 | MS4A14-G584R | het unknown | 0.513 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: 0.003 (benign) |
| 0.5 | YBEY-R150L | het unknown | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.989 (probably damaging) | |
| 0.5 | ROM1-G118A | homozygous | 0.931 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.008 (benign), Testable gene in GeneTests |
| 0.5 | ROM1-R229H | het unknown | Unknown | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests | |
| 0.5 | BAG3-R71Q | het unknown | 0.008 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | NRAP-R1566C | homozygous | 0.348 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: 0.853 (probably damaging) |
| 0.5 | NRAP-L1531P | het unknown | 0.079 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.928 (probably damaging) |
| 0.5 | NRAP-I1183V | het unknown | 0.461 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 0.5 | NRAP-R884C | het unknown | 0.181 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: 0.97 (probably damaging) |
| 0.5 | NRAP-N519I | het unknown | 0.263 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: 0.974 (probably damaging) |
| 0.5 | NRAP-A282T | het unknown | 0.281 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 0.5 | NRAP-V208A | het unknown | 0.914 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 0.5 | DMD-R2937Q | homozygous | 0.899 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | LAMA3-S2834G | homozygous | 0.993 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | ANK3-S4333* | het unknown | 0.016 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Nonsense mutation |
| 0.5 | KAL1-V534I | homozygous | 0.543 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | CHAT-E363K | het unknown | Unknown | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview | |
| 0.5 | CHAT-V461M | homozygous | 0.927 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | ERCC6-Q1413R | het unknown | 0.145 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: 0.004 (benign), Testable gene in GeneTests with associated GeneReview |
| 0.5 | ERCC6-R1213G | het unknown | 0.159 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 4 Polyphen 2: 0.957 (probably damaging), Testable gene in GeneTests with associated GeneReview |
| 0.5 | ERCC6-M1097V | het unknown | 0.153 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | OPN1LW-L153M | homozygous | 0.182 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | OPN1LW-S180A | homozygous | 0.229 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: 0.001 (benign), Testable gene in GeneTests with associated GeneReview |
| 0.5 | ATRX-Q929E | homozygous | 0.565 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | MYO3A-R319H | homozygous | 0.376 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: Unknown, Testable gene in GeneTests |
| 0.5 | MYO3A-I348V | homozygous | 0.678 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: Unknown, Testable gene in GeneTests |
| 0.5 | MYO3A-V369I | homozygous | 0.642 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: Unknown, Testable gene in GeneTests |
| 0.5 | MYO3A-S956N | homozygous | 0.443 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests |
| 0.5 | MYO3A-T1284S | het unknown | 0.406 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: 0.002 (benign), Testable gene in GeneTests |
| 0.5 | MYO3A-R1313S | het unknown | 0.620 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests |
| 0.5 | PTCHD3-*768Q | homozygous | 0.570 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 0.5 | PTCHD3-I584M | homozygous | 0.963 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 0.5 | PTCHD3-M521T | homozygous | 0.498 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 0.5 | PTCHD3-D473G | homozygous | 0.499 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: 0.849 (possibly damaging) |
| 0.5 | PTCHD3-C407G | het unknown | 0.490 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: 1.0 (probably damaging) |
| 0.5 | PTCHD3-S309Shift | het unknown | 0.016 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Frameshift |
| 0.5 | CDH23-G488A | het unknown | 0.180 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | CDH23-A1220T | het unknown | Unknown | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview | |
| 0.5 | CDH23-N1349D | homozygous | 0.772 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | CDH23-A1572T | homozygous | 0.720 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | CDH23-T1996S | homozygous | 0.248 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | SHANK3-I245T | homozygous | 0.357 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | ABCC2-Y39F | homozygous | 0.990 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests |
| 0.5 | ABCC2-V417I | het unknown | 0.195 | Unknown pharmacogenetic | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.001 (benign), Testable gene in GeneTests |
| 0.5 | FAM83F-R436G | het unknown | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.939 (probably damaging) | |
| 0.5 | COL17A1-M703V | homozygous | 0.672 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | COL17A1-G428S | homozygous | 0.771 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | COL17A1-T210M | het unknown | 0.557 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | ZDHHC6-I218T | het unknown | Unknown | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: Unknown | |
| 0.5 | ZDHHC6-D41N | het unknown | 0.008 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.92 (probably damaging) |
| 0.5 | ST13-M297I | het unknown | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.914 (probably damaging) | |
| 0.5 | PLCE1-R1575P | homozygous | 0.517 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests |
| 0.5 | PLCE1-T1777I | homozygous | 0.342 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests |
| 0.5 | PLCE1-H1927R | homozygous | 0.328 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.002 (benign), Testable gene in GeneTests |
| 0.5 | ACOX1-I312M | homozygous | 0.492 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests |
| 0.5 | SCO2-R20P | homozygous | 0.690 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests |
| 0.5 | TRMU-A10S | het unknown | 0.098 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.78 (possibly damaging), Testable gene in GeneTests |
| 0.5 | MYOF-R1525W | het unknown | Unknown | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: Unknown | |
| 0.5 | MYOF-D342N | het unknown | 0.016 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.999 (probably damaging) |
| 0.5 | ITGB4-L1779P | homozygous | 0.486 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | MUS81-R37H | het unknown | 0.404 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: 0.937 (probably damaging) |
| 0.5 | MUS81-R180P | het unknown | 0.358 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: 0.006 (benign) |
| 0.5 | MUS81-R350W | het unknown | 0.008 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: 0.919 (probably damaging) |
| 0.5 | KRTAP26-1-P188T | het unknown | 0.027 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: 0.993 (probably damaging) |
| 0.5 | KRTAP26-1-S26Y | het unknown | 0.071 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: 0.993 (probably damaging) |
| 0.5 | ZFC3H1-K1807R | het unknown | 0.031 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.92 (probably damaging) |
| 0.5 | CEP290-K838E | homozygous | 0.108 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | CEP290-D664G | het unknown | 0.134 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 4 Polyphen 2: 0.958 (probably damaging), Testable gene in GeneTests with associated GeneReview |
| 0.5 | ATXN2-L107V | homozygous | 0.311 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | KIF5A-P986L | het unknown | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests | |
| 0.5 | NTSR1-V304I | het unknown | 0.017 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.974 (probably damaging) |
| 0.5 | KRT83-H493Y | homozygous | 0.791 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests |
| 0.5 | KRT83-I279M | het unknown | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests | |
| 0.5 | TBX4-G6A | het unknown | 0.219 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.497 (possibly damaging), Testable gene in GeneTests |
| 0.5 | TBX4-A35V | het unknown | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests | |
| 0.5 | MYO7A-S1666C | homozygous | 0.610 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | MYO7A-L1954I | homozygous | 0.552 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | KRT4-Q230R | het unknown | 0.301 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: Unknown, Testable gene in GeneTests |
| 0.5 | KRT4-G160GAGGFGAGFGTGGFG | het unknown | 0.008 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests |
| 0.5 | KRT4-A146V | het unknown | 0.241 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: Unknown, Testable gene in GeneTests |
| 0.5 | HNF1A-S574G | homozygous | 0.976 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests |
| 0.5 | LAMA5-G3685R | het unknown | 0.008 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.978 (probably damaging) |
| 0.5 | LAMA5-R3079W | homozygous | 0.655 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 0.5 | LAMA5-D2062N | homozygous | 0.559 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: 0.551 (possibly damaging) |
| 0.5 | LAMA5-R2053H | homozygous | 0.094 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: 0.034 (benign) |
| 0.5 | LAMA5-V1900M | homozygous | 0.674 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 0.5 | LAMA5-F1807S | homozygous | 0.895 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 0.5 | LAMA5-K1367E | homozygous | 0.912 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 0.5 | LAMA5-M1258T | homozygous | 0.807 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 0.5 | LAMA5-T956A | homozygous | 1.000 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 0.5 | LAMA5-T401A | homozygous | 0.868 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: 0.184 (benign) |
| 0.5 | LAMA5-S352Shift | het unknown | Unknown | Insufficiently evaluated | Prioritization score: 2 Frameshift | |
| 0.5 | SACS-L2261I | het unknown | Unknown | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview | |
| 0.5 | SACS-N232K | het unknown | 0.083 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: 0.98 (probably damaging), Testable gene in GeneTests with associated GeneReview |
| 0.5 | CENPJ-S879A | het unknown | 0.066 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: 0.002 (benign), Testable gene in GeneTests with associated GeneReview |
| 0.5 | CENPJ-P85T | het unknown | 0.059 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: 0.021 (benign), Testable gene in GeneTests with associated GeneReview |
| 0.5 | TNFRSF11A-H141Y | het unknown | 0.027 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: 0.909 (probably damaging), Testable gene in GeneTests |
| 0.5 | TNFRSF11A-A192V | homozygous | 0.625 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: Unknown, Testable gene in GeneTests |
| 0.5 | COL1A1-T1075A | homozygous | 0.961 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | SGCG-N287S | homozygous | 0.843 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests |
| 0.5 | SALL4-L507R | het unknown | 0.328 | Dominant not reviewed | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: 0.125 (benign), Testable gene in GeneTests with associated GeneReview |
| 0.5 | HPD-T33A | homozygous | 0.884 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests |
| 0.5 | TUBB1-Q43P | het unknown | 0.007 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.877 (probably damaging) |
| 0.5 | ATP6V0A2-N850S | het unknown | 0.008 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | PCK1-V184L | homozygous | 0.856 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests |
| 0.5 | PCK1-I267V | het unknown | 0.064 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.167 (benign), Testable gene in GeneTests |
| 0.5 | SEPT4-E311V | het unknown | 0.047 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.856 (probably damaging) |
| 0.5 | WNK1-A141T | het unknown | 0.051 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | WNK1-T1056P | het unknown | 0.838 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | WNK1-C1506S | homozygous | 1.000 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | PFKL-D237V | het unknown | 0.049 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.614 (possibly damaging) |
| 0.5 | TIRAP-S180L | het unknown | 0.073 | Complex/Other pharmacogenetic | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 0.5 | MTMR2-K3T | homozygous | 0.216 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | SCN4A-N1376D | homozygous | 0.604 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | SCN4A-S524G | homozygous | 0.938 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | KRTAP27-1-C95Y | het unknown | 0.023 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.999 (probably damaging) |
| 0.5 | ALG8-I439T | het unknown | 0.023 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.002 (benign), Testable gene in GeneTests with associated GeneReview |
| 0.5 | COL6A2-A68V | het unknown | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview | |
| 0.5 | TRPC6-A404V | het unknown | 0.099 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: 0.937 (probably damaging), Testable gene in GeneTests |
| 0.5 | TRPC6-P15S | het unknown | 0.069 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests |
| 0.5 | ATM-D1853N | het unknown | 0.066 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | ATM-N1983S | homozygous | 0.991 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | PUS3-R53H | het unknown | 0.008 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown |
| 0.5 | PUS3-A46S | homozygous | 0.655 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 0.5 | PUS3-Y3D | homozygous | 0.790 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 0.5 | ITGB2-Q354H | homozygous | 1.000 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.543 (possibly damaging), Testable gene in GeneTests |
| 0.5 | SNX19-L878R | homozygous | 0.808 | Unknown pharmacogenetic | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 0.5 | SNX19-N753S | homozygous | 0.617 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 0.5 | SNX19-L618F | homozygous | 0.994 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 0.5 | SNX19-V361L | homozygous | 0.671 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 0.5 | SNX19-A197S | het unknown | Unknown | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: Unknown | |
| 0.5 | SNX19-T196A | het unknown | 0.008 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: 0.023 (benign) |
| 0.5 | GYS2-M363V | homozygous | 0.729 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests |
| 0.5 | ALPK2-I2157V | homozygous | 0.919 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 0.5 | ALPK2-R1884C | het unknown | 0.016 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.699 (possibly damaging) |
| 0.5 | ALPK2-H1767Y | het unknown | 0.058 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: 0.008 (benign) |
| 0.5 | ALPK2-Q1579R | het unknown | 0.065 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: 0.183 (benign) |
| 0.5 | ALPK2-F1389Del | het unknown | 0.094 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 0.5 | ALPK2-H1174P | het unknown | 0.641 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: 0.998 (probably damaging) |
| 0.5 | ALPK2-L1057V | het unknown | 0.641 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: 0.293 (possibly damaging) |
| 0.5 | ALPK2-T891I | homozygous | 0.762 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 0.5 | ALPK2-K2T | homozygous | 0.926 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 0.5 | VWF-Q852R | homozygous | 0.904 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | VWF-T789A | homozygous | 0.355 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: 0.004 (benign), Testable gene in GeneTests with associated GeneReview |
| 0.5 | VWF-H484R | het unknown | 0.498 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: 0.83 (possibly damaging), Testable gene in GeneTests with associated GeneReview |
| 0.5 | COL2A1-E142D | het unknown | 0.055 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | COL2A1-T9S | homozygous | 0.598 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | LRRK2-R50H | homozygous | 0.927 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | LRRK2-P1542S | het unknown | Unknown | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview | |
| 0.5 | LRRK2-M2397T | het unknown | 0.526 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | SLCO1B3-S112A | homozygous | 0.646 | Unknown pharmacogenetic | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 0.5 | SLCO1B3-M233I | homozygous | 0.659 | Unknown pharmacogenetic | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: 0.131 (benign) |
| 0.5 | SLCO1B1-N130D | het unknown | 0.663 | Unknown pharmacogenetic | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 0.5 | SLCO1B1-P155T | het unknown | 0.071 | Unknown pharmacogenetic | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 0.5 | ATP8B1-A1152T | homozygous | 0.998 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.375 | COL9A3-G17E | het unknown | Unknown | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview | |
| 0.375 | COL9A3-A435E | het unknown | 0.218 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: 0.568 (possibly damaging), Testable gene in GeneTests with associated GeneReview |
| 0.375 | H6PD-D151A | het unknown | 0.086 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: 0.292 (possibly damaging) |
| 0.375 | H6PD-R453Q | het unknown | 0.407 | Recessive pathogenic | Low clinical importance, uncertain | This common variant may have a small pathogenic effect by contributing to cortisone reductase deficiency (a rare abnormality) when homozygous and combined with a serious pathogenic variant. The same authors have tested and ruled out a contribution to polycystic ovary syndrome (similar phenotype, more common disease). |
| 0.375 | H6PD-P554L | het unknown | 0.077 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: 0.966 (probably damaging) |
| 0.375 | FUT6-R303G | het unknown | 0.107 | Recessive pathogenic | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: 0.725 (possibly damaging) |
| 0.375 | FUT6-P124S | het unknown | 0.496 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: 0.614 (possibly damaging) |
| 0.375 | SIX6-E129K | het unknown | Unknown | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview | |
| 0.375 | SIX6-H141N | het unknown | 0.314 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.008 (benign), Testable gene in GeneTests with associated GeneReview |
| 0.25 | MERTK-S118N | het unknown | 0.138 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests |
| 0.25 | MERTK-R466K | het unknown | 0.550 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests |
| 0.25 | MERTK-I518V | het unknown | 0.550 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests |
| 0.25 | CD226-S307G | het unknown | 0.423 | Unknown pharmacogenetic | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 0.25 | LRP2-I4210L | het unknown | 0.462 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.993 (probably damaging) |
| 0.25 | LRP2-K4094E | het unknown | 0.744 | Unknown pharmacogenetic | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: Unknown |
| 0.25 | LRP2-A2872T | het unknown | 0.327 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: Unknown |
| 0.25 | LRP2-T2284A | het unknown | Unknown | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: Unknown | |
| 0.25 | SULT1C4-D5E | het unknown | 0.371 | Unknown pharmacogenetic | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 0.25 | CASP8-K14R | het unknown | 0.640 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests |
| 0.25 | RGPD5-P1760A | het unknown | Unknown | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: Unknown | |
| 0.25 | RGPD5-V1227A | het unknown | 0.012 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: Unknown |
| 0.25 | RGPD5-G365A | het unknown | Unknown | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: Unknown | |
| 0.25 | RGPD5-R364Shift | het unknown | Unknown | Insufficiently evaluated | Prioritization score: 2 Frameshift | |
| 0.25 | RAB3GAP1-N598S | het unknown | 0.207 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests |
| 0.25 | RAX-D44E | het unknown | 0.189 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: 0.003 (benign), Testable gene in GeneTests with associated GeneReview |
| 0.25 | KISS1R-L364H | het unknown | 0.875 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.25 | SCN1A-A1056T | het unknown | 0.806 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.25 | FMO2-F182S | het unknown | 0.119 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 0.25 | FMO2-S195L | het unknown | 0.465 | Unknown pharmacogenetic | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 0.25 | SFTPB-D174A | het unknown | Unknown | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests | |
| 0.25 | SFTPB-T131I | het unknown | 0.570 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: Unknown, Testable gene in GeneTests |
| 0.25 | NGF-A35V | het unknown | 0.244 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.123 (benign), Testable gene in GeneTests |
| 0.25 | KCNE1-S38G | het unknown | 0.710 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: 0.003 (benign), Testable gene in GeneTests with associated GeneReview |
| 0.25 | KCNQ2-N780T | het unknown | 0.509 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.25 | CASQ2-T66A | het unknown | 0.427 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.25 | IL6R-D358A | het unknown | 0.266 | Unknown pharmacogenetic | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: 0.911 (probably damaging) |
| 0.25 | CRNN-G480S | het unknown | 0.223 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: 0.07 (benign) |
| 0.25 | CRNN-T283Shift | het unknown | Unknown | Insufficiently evaluated | Prioritization score: 2 Frameshift | |
| 0.25 | CRNN-TSQ278Del | het unknown | Unknown | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: Unknown | |
| 0.25 | GDF5-S276A | het unknown | 0.383 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests |
| 0.25 | AIRE-S278R | het unknown | 0.241 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests |
| 0.25 | COL11A1-S1547P | het unknown | 0.752 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.25 | COL11A1-P1335L | het unknown | 0.479 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.25 | PINK1-N521T | het unknown | 0.289 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.25 | CLCNKA-R83G | het unknown | 0.653 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests |
| 0.25 | CLCNKA-Y315F | het unknown | 0.222 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests |
| 0.25 | CLCNKA-A447T | het unknown | 0.688 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests |
| 0.25 | CLCNKA-T454A | het unknown | 0.070 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: Unknown, Testable gene in GeneTests |
| 0.25 | CLCNKA-V457I | het unknown | 0.070 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: Unknown, Testable gene in GeneTests |
| 0.25 | ARSA-T391S | het unknown | 0.423 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.25 | TCF20-M405V | het unknown | 0.102 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.963 (probably damaging) |
| 0.25 | LEPR-Q223R | het unknown | 0.569 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.484 (possibly damaging), Testable gene in GeneTests |
| 0.25 | LRP8-R952Q | het unknown | 0.130 | Unknown pharmacogenetic | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 0.25 | CPT2-V368I | het unknown | 0.477 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.25 | GBA-K144R | het unknown | 0.619 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.25 | CPO-M85I | het unknown | 0.426 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.196 (benign), Testable gene in GeneTests |
| 0.25 | CPO-S134R | het unknown | 0.476 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests |
| 0.25 | IL12RB1-G378R | het unknown | 0.329 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.001 (benign), Testable gene in GeneTests |
| 0.25 | IL12RB1-M365T | het unknown | 0.297 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests |
| 0.25 | IL12RB1-Q214R | het unknown | 0.281 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests |
| 0.25 | DMKN-D427A | homozygous | 1.000 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 0.25 | DMKN-S281Shift | het unknown | Unknown | Insufficiently evaluated | Prioritization score: 2 Frameshift | |
| 0.25 | DMKN-V91A | homozygous | 0.877 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: 0.008 (benign) |
| 0.25 | ICAM1-K469E | het unknown | 0.297 | Unknown pharmacogenetic | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 0.25 | ABCG5-Q604E | het unknown | 0.191 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.73 (possibly damaging), Testable gene in GeneTests |
| 0.25 | GGCX-R325Q | het unknown | 0.454 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.003 (benign), Testable gene in GeneTests |
| 0.25 | FSHR-S680N | het unknown | 0.605 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests |
| 0.25 | FSHR-A307T | het unknown | 0.486 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests |
| 0.25 | SLC3A1-M618I | het unknown | 0.406 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.003 (benign), Testable gene in GeneTests |
| 0.25 | FCGBP-L4216Shift | het unknown | Unknown | Insufficiently evaluated | Prioritization score: 2 Frameshift | |
| 0.25 | FCGBP-H3668R | homozygous | 0.575 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 0.25 | FCGBP-A2793V | het unknown | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: Unknown | |
| 0.25 | FCGBP-S1961P | homozygous | 0.875 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 0.25 | FCGBP-GM1616VV | homozygous | 0.139 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 0.25 | FCGBP-P1436L | homozygous | 0.110 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: 0.325 (possibly damaging) |
| 0.25 | FCGBP-N770S | het unknown | 0.026 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: 0.384 (possibly damaging) |
| 0.25 | KLF11-Q62R | het unknown | 0.102 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.986 (probably damaging), Testable gene in GeneTests |
| 0.25 | NLRP7-V319I | het unknown | 0.306 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.001 (benign), Testable gene in GeneTests |
| 0.25 | RNASEL-D541E | het unknown | 0.470 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests |
| 0.25 | LHX4-N328S | het unknown | 0.389 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests |
| 0.25 | SIX5-V693M | het unknown | 0.261 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.086 (benign), Testable gene in GeneTests with associated GeneReview |
| 0.25 | SIX5-L556V | het unknown | 0.833 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.25 | AGT-M268T | het unknown | 0.733 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.25 | RYR2-Q2958R | het unknown | 0.133 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.25 | CD3EAP-K428Del | het unknown | Unknown | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: Unknown | |
| 0.25 | CD3EAP-Q504K | het unknown | 0.284 | Unknown pharmacogenetic | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: 0.002 (benign) |
| 0.25 | GNPAT-D519G | het unknown | 0.131 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.025 (benign), Testable gene in GeneTests |
| 0.25 | SH2B1-T484A | het unknown | 0.217 | Unknown pharmacogenetic | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 0.25 | GM2A-I59V | het unknown | 0.642 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests |
| 0.25 | GM2A-M69V | het unknown | 0.826 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests |
| 0.25 | OPRM1-N40D | het unknown | 0.204 | Unknown pharmacogenetic | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 0.25 | OPRM1-Q402H | het unknown | 0.882 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 0.25 | RSPH4A-L589P | het unknown | 0.707 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.25 | SLC22A16-H49R | het unknown | 0.333 | Unknown pharmacogenetic | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 0.25 | DHX37-R1081Q | het unknown | 0.573 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: 0.136 (benign) |
| 0.25 | DHX37-D1059Shift | het unknown | Unknown | Insufficiently evaluated | Prioritization score: 2 Frameshift | |
| 0.25 | DHX37-S869G | het unknown | 0.590 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 0.25 | DHX37-M96I | homozygous | 0.393 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 0.25 | USP45-N778S | homozygous | 0.966 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 0.25 | USP45-E220* | het unknown | Unknown | Insufficiently evaluated | Prioritization score: 2 Nonsense mutation | |
| 0.25 | USP45-K67E | het unknown | 0.298 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: 0.993 (probably damaging) |
| 0.25 | SLC22A2-S270A | het unknown | 0.876 | Unknown pharmacogenetic | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 0.25 | KRT1-K633R | het unknown | 0.281 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests |
| 0.25 | GLI3-T183A | het unknown | 0.663 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.25 | PFKM-R100Q | het unknown | 0.164 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.01 (benign), Testable gene in GeneTests |
| 0.25 | CELA1-L210Shift | het unknown | 0.156 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 1 Frameshift |
| 0.25 | CELA1-M59V | het unknown | 0.142 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: 0.24 (possibly damaging) |
| 0.25 | CELA1-Y5P | het unknown | Unknown | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: Unknown | |
| 0.25 | CELA1-V3Shift | het unknown | Unknown | Insufficiently evaluated | Prioritization score: 2 Frameshift | |
| 0.25 | KRT5-G543S | het unknown | 0.107 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.25 | KRT6C-R182Q | het unknown | 0.281 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.805 (possibly damaging), Testable gene in GeneTests with associated GeneReview |
| 0.25 | COL9A1-S339P | het unknown | 0.507 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.25 | LMBRD1-D469E | het unknown | 0.393 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.001 (benign), Testable gene in GeneTests with associated GeneReview |
| 0.25 | ALDH5A1-H180Y | het unknown | 0.334 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.25 | FLT4-H890Q | het unknown | 0.355 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.714 (possibly damaging), Testable gene in GeneTests with associated GeneReview |
| 0.25 | FGFR4-P136L | het unknown | 0.768 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 0.25 | FGFR4-G388R | het unknown | 0.301 | Unknown pharmacogenetic | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: 0.481 (possibly damaging) |
| 0.25 | NPC1-M642I | het unknown | 0.863 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.25 | GSTZ1-M82T | homozygous | 0.892 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 0.25 | GSTZ1-T185Shift | het unknown | Unknown | Insufficiently evaluated | Prioritization score: 2 Frameshift | |
| 0.25 | HLA-F-K56E | homozygous | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: Unknown | |
| 0.25 | HLA-F-V57G | het unknown | Unknown | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: Unknown | |
| 0.25 | HLA-F-S128Shift | het unknown | Unknown | Insufficiently evaluated | Prioritization score: 2 Frameshift | |
| 0.25 | RNF39-A304E | het unknown | 0.238 | Unknown pharmacogenetic | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 0.25 | RNF39-G263C | het unknown | 0.102 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 0.25 | RNF39-S203P | het unknown | 0.223 | Unknown pharmacogenetic | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 0.25 | FREM2-S745P | homozygous | 0.994 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: Unknown, Testable gene in GeneTests |
| 0.25 | FREM2-F1070S | het unknown | 0.527 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests |
| 0.25 | FREM2-R1840W | het unknown | 0.162 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: 0.999 (probably damaging), Testable gene in GeneTests |
| 0.25 | FREM2-T2326I | het unknown | 0.768 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests |
| 0.25 | USPL1-L531S | het unknown | 0.520 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: 0.013 (benign) |
| 0.25 | USPL1-H843Shift | het unknown | Unknown | Insufficiently evaluated | Prioritization score: 2 Frameshift | |
| 0.25 | USPL1-S950N | het unknown | 0.518 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 0.25 | CLN5-R2C | het unknown | 0.158 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.25 | KIF6-W719R | het unknown | 0.538 | Unknown pharmacogenetic | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: 0.01 (benign) |
| 0.25 | PRRC2A-P106L | het unknown | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: Unknown | |
| 0.25 | PRRC2A-T544K | homozygous | 0.780 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 0.25 | PRRC2A-G907R | het unknown | Unknown | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: Unknown | |
| 0.25 | PRRC2A-L1503P | homozygous | 0.816 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 0.25 | PRRC2A-D1766G | het unknown | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: Unknown | |
| 0.25 | PRRC2A-V1774M | het unknown | 0.087 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 0.25 | PRRC2A-E1810Shift | het unknown | Unknown | Insufficiently evaluated | Prioritization score: 2 Frameshift | |
| 0.25 | PRRC2A-L1895V | homozygous | 0.976 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 0.25 | HSPA1L-T493M | het unknown | 0.868 | Unknown pharmacogenetic | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: 0.001 (benign) |
| 0.25 | ELN-G422S | het unknown | 0.225 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.25 | COL1A2-P549A | het unknown | 0.907 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.25 | PALM2-AKAP2-I547Shift | het unknown | Unknown | Insufficiently evaluated | Prioritization score: 2 Frameshift | |
| 0.25 | PALM2-AKAP2-L792S | het unknown | 0.457 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 0.25 | PALM2-AKAP2-A881V | het unknown | 0.023 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: Unknown |
| 0.25 | IKBKAP-P1158L | het unknown | 0.268 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.25 | IKBKAP-C1072S | het unknown | 0.270 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.25 | IKBKAP-I816L | het unknown | 0.316 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.25 | IKBKAP-G765E | het unknown | 0.315 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.25 | FKTN-R203Q | het unknown | 0.177 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.166 (benign), Testable gene in GeneTests with associated GeneReview |
| 0.25 | ROR2-V819I | het unknown | 0.798 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.25 | ROR2-T245A | het unknown | 0.619 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.25 | LIPA-T16P | het unknown | 0.251 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.002 (benign), Testable gene in GeneTests |
| 0.25 | ANXA11-R230C | het unknown | 0.382 | Unknown pharmacogenetic | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: 1.0 (probably damaging) |
| 0.25 | SLC29A3-R18G | het unknown | 0.486 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests |
| 0.25 | SLC29A3-S158F | het unknown | 0.453 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: Unknown, Testable gene in GeneTests |
| 0.25 | SLC29A3-V239I | het unknown | 0.771 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests |
| 0.25 | SLC29A3-I326V | het unknown | 0.824 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: Unknown, Testable gene in GeneTests |
| 0.25 | PTF1A-S263P | het unknown | 0.654 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.981 (probably damaging), Testable gene in GeneTests |
| 0.25 | SLC34A3-S260N | het unknown | Unknown | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests | |
| 0.25 | SLC34A3-E513V | homozygous | 0.915 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: Unknown, Testable gene in GeneTests |
| 0.25 | ANKRD30A-I471T | het unknown | Unknown | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: Unknown | |
| 0.25 | ANKRD30A-K861N | homozygous | 0.483 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 0.25 | ANKRD30A-V912I | het unknown | 0.067 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 0.25 | ANKRD30A-A918T | het unknown | 0.302 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 0.25 | ANKRD30A-R929C | het unknown | 0.122 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: 0.385 (possibly damaging) |
| 0.25 | ANKRD30A-E1258Shift | het unknown | Unknown | Insufficiently evaluated | Prioritization score: 2 Frameshift | |
| 0.25 | PCDH15-D440A | het unknown | 0.343 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.25 | PCDH15-S19A | het unknown | 0.174 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: 0.013 (benign), Testable gene in GeneTests with associated GeneReview |
| 0.25 | TSC1-M322T | het unknown | 0.150 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.25 | CALHM1-L86P | het unknown | 1.000 | Unknown pharmacogenetic | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 0.25 | ACADSB-R13K | het unknown | 0.171 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.08 (benign), Testable gene in GeneTests |
| 0.25 | C8orf49-G26R | homozygous | Unknown | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: Unknown | |
| 0.25 | C8orf49-I81V | het unknown | Unknown | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: Unknown | |
| 0.25 | C8orf49-R95G | het unknown | Unknown | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: Unknown | |
| 0.25 | C8orf49-C194* | het unknown | Unknown | Insufficiently evaluated | Prioritization score: 2 Nonsense mutation | |
| 0.25 | IGHMBP2-L201S | het unknown | 0.650 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests |
| 0.25 | IGHMBP2-T671A | het unknown | 0.203 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests |
| 0.25 | ATP6V0A4-V2A | het unknown | 0.680 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests |
| 0.25 | MUC17-A427T | het unknown | 0.401 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 0.25 | MUC17-I1130T | homozygous | 0.966 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: 0.024 (benign) |
| 0.25 | MUC17-S1493T | het unknown | 0.094 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: 0.914 (probably damaging) |
| 0.25 | MUC17-T1557A | het unknown | 0.186 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 0.25 | MUC17-S1846T | het unknown | 0.051 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 0.25 | MUC17-S1848Shift | het unknown | Unknown | Insufficiently evaluated | Prioritization score: 2 Frameshift | |
| 0.25 | MUC17-P2221R | het unknown | 0.640 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 0.25 | MUC17-T2719S | het unknown | Unknown | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: Unknown | |
| 0.25 | MUC17-S2720N | het unknown | Unknown | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: Unknown | |
| 0.25 | MUC17-V2723L | het unknown | Unknown | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: Unknown | |
| 0.25 | MUC17-P3047L | het unknown | Unknown | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: Unknown | |
| 0.25 | MUC17-I3060S | het unknown | Unknown | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: Unknown | |
| 0.25 | CFTR-V470M | het unknown | 0.621 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.25 | SFTPC-T138N | het unknown | 0.172 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.25 | SFTPC-S186N | het unknown | 0.222 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.25 | ESCO2-A80V | het unknown | 0.147 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.25 | ANO5-L170P | het unknown | Unknown | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests | |
| 0.25 | ANO5-L322F | het unknown | 0.289 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: 0.008 (benign), Testable gene in GeneTests |
| 0.25 | ABCC8-A1369S | het unknown | 0.755 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.25 | VPS13B-V2559A | het unknown | 0.106 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.25 | BDNF-V148M | het unknown | 0.208 | Unknown pharmacogenetic | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 0.25 | MADD-V751M | het unknown | 0.315 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests |
| 0.25 | F2-T165M | het unknown | 0.280 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: 0.346 (possibly damaging), Testable gene in GeneTests with associated GeneReview |
| 0.25 | ATP10B-S575Shift | het unknown | Unknown | Insufficiently evaluated | Prioritization score: 2 Frameshift | |
| 0.25 | ATP10B-C217R | het unknown | 0.877 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 0.25 | DOK7-H113P | het unknown | 0.183 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.25 | DOK7-R120Q | het unknown | 0.146 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.25 | DOK7-T137I | het unknown | 0.177 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.25 | MCCC1-H464P | het unknown | 0.408 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests |
| 0.25 | SLC2A2-T110I | het unknown | 0.234 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests |
| 0.25 | BCHE-A567T | het unknown | 0.138 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: Unknown, Testable gene in GeneTests |
| 0.25 | BCHE-D98G | het unknown | Unknown | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests | |
| 0.25 | KRTAP3-2-R27C | het unknown | 0.156 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.999 (probably damaging) |
| 0.25 | UMPS-G213A | het unknown | 0.170 | Unknown pharmacogenetic | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: Unknown, Testable gene in GeneTests |
| 0.25 | EIF2B5-I587V | het unknown | 0.370 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.001 (benign), Testable gene in GeneTests with associated GeneReview |
| 0.25 | ERBB2-I655V | het unknown | 0.121 | Unknown pharmacogenetic | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: 0.18 (benign) |
| 0.25 | ERBB2-P1170A | homozygous | 0.275 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: 0.983 (probably damaging) |
| 0.25 | CRIPAK-C27Shift | het unknown | Unknown | Insufficiently evaluated | Prioritization score: 2 Frameshift | |
| 0.25 | CRIPAK-H95R | homozygous | 0.763 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: 0.01 (benign) |
| 0.25 | CRIPAK-M286T | homozygous | 0.571 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: 0.002 (benign) |
| 0.25 | SH3TC2-A468S | het unknown | 0.198 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.001 (benign), Testable gene in GeneTests with associated GeneReview |
| 0.25 | COX10-T62S | het unknown | 0.099 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: Unknown, Testable gene in GeneTests |
| 0.25 | COX10-R159Q | het unknown | 0.494 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests |
| 0.25 | LRRC48-R191W | het unknown | 0.578 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 0.25 | LRRC48-R444Shift | het unknown | Unknown | Insufficiently evaluated | Prioritization score: 2 Frameshift | |
| 0.25 | CLDN16-R55Shift | het unknown | 0.172 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Frameshift, Testable gene in GeneTests |
| 0.25 | MYO15A-A595T | het unknown | 0.557 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: Unknown, Testable gene in GeneTests |
| 0.25 | MYO15A-W718G | het unknown | 0.100 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: Unknown, Testable gene in GeneTests |
| 0.25 | MYO15A-Q3337L | het unknown | Unknown | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests | |
| 0.25 | KRT14-A94T | het unknown | 0.269 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.25 | KRT14-C63Y | het unknown | 0.976 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.25 | DRD3-G9S | het unknown | 0.482 | Unknown pharmacogenetic | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: Unknown |
| 0.25 | TMEM43-K168N | het unknown | 0.335 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.064 (benign), Testable gene in GeneTests with associated GeneReview |
| 0.25 | TMEM43-M179T | het unknown | 0.487 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.25 | BRIP1-S919P | het unknown | 0.652 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.25 | COL6A3-A3012P | het unknown | 0.843 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.25 | COL6A3-M2927T | het unknown | 0.674 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.25 | COLEC12-S622Shift | het unknown | Unknown | Insufficiently evaluated | Prioritization score: 2 Frameshift | |
| 0.25 | COLEC12-G606S | het unknown | 0.379 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: 0.991 (probably damaging) |
| 0.25 | COLEC12-S522P | homozygous | 0.617 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 0.25 | GAA-H199R | het unknown | 0.574 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.25 | GAA-R223H | het unknown | 0.606 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.25 | GAA-V780I | het unknown | 0.720 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.25 | MLH1-I219V | het unknown | 0.124 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: 0.003 (benign), Testable gene in GeneTests with associated GeneReview |
| 0.25 | CCDC13-S547T | het unknown | 0.219 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 0.25 | CCDC13-Q325Shift | het unknown | Unknown | Insufficiently evaluated | Prioritization score: 2 Frameshift | |
| 0.25 | CCDC13-E323G | het unknown | Unknown | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: Unknown | |
| 0.25 | CPOX-N272H | het unknown | 0.255 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.037 (benign), Testable gene in GeneTests |
| 0.25 | JUP-M697L | het unknown | 0.520 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.25 | ITGA2B-I874S | het unknown | 0.255 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests |
| 0.25 | ITGB3-L59P | het unknown | 0.109 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.02 (benign), Testable gene in GeneTests |
| 0.25 | PPP1R9B-ES304GA | het unknown | Unknown | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: Unknown | |
| 0.25 | PPP1R9B-A303Shift | het unknown | Unknown | Insufficiently evaluated | Prioritization score: 2 Frameshift | |
| 0.25 | PPP1R9B-E302G | het unknown | Unknown | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: Unknown | |
| 0.25 | MST1-R703C | het unknown | 0.207 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 0.25 | MST1-R651* | het unknown | Unknown | Insufficiently evaluated | Prioritization score: 2 Nonsense mutation | |
| 0.25 | CHRNB1-E32G | het unknown | 0.172 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.288 (possibly damaging), Testable gene in GeneTests with associated GeneReview |
| 0.25 | BBS4-I354T | het unknown | 0.399 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.25 | APC-V1822D | het unknown | 0.887 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.25 | VCAN-T689A | het unknown | 0.016 | Unknown benign | Insufficiently evaluated | Prioritization score: 4 Polyphen 2: 0.862 (probably damaging), Testable gene in GeneTests with associated GeneReview |
| 0.25 | VCAN-K1516R | het unknown | 0.480 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.25 | VCAN-R1826H | het unknown | 0.349 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: 0.002 (benign), Testable gene in GeneTests with associated GeneReview |
| 0.25 | VCAN-F2301Y | het unknown | 0.462 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.25 | VCAN-D2937Y | het unknown | 0.352 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: 0.11 (benign), Testable gene in GeneTests with associated GeneReview |
| 0.25 | GHR-I544L | het unknown | 0.473 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: 0.98 (probably damaging), Testable gene in GeneTests |
| 0.25 | FANCA-T266A | het unknown | 0.708 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: 0.778 (possibly damaging), Testable gene in GeneTests with associated GeneReview |
| 0.25 | NIPBL-N674S | het unknown | 0.129 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: 0.028 (benign), Testable gene in GeneTests with associated GeneReview |
| 0.25 | RYR3-I1160Shift | het unknown | Unknown | Insufficiently evaluated | Prioritization score: 2 Frameshift | |
| 0.25 | RYR3-R1641C | homozygous | 0.769 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 0.25 | RYR3-G2270E | homozygous | 0.865 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 0.25 | SLC22A4-I306T | het unknown | 0.588 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: 0.001 (benign) |
| 0.25 | SLC22A4-L503F | het unknown | 0.142 | Unknown pharmacogenetic | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 0.25 | SPATA7-D2N | het unknown | 0.155 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.665 (possibly damaging), Testable gene in GeneTests with associated GeneReview |
| 0.25 | SPINK5-Q267R | het unknown | 0.475 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests |
| 0.25 | SPINK5-A335V | het unknown | 0.381 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests |
| 0.25 | SPINK5-S368N | het unknown | 0.363 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests |
| 0.25 | SPINK5-K420E | het unknown | 0.380 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests |
| 0.25 | SPINK5-R711Q | het unknown | 0.469 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests |
| 0.25 | SERPINA1-E400D | het unknown | 0.220 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: 0.001 (benign), Testable gene in GeneTests with associated GeneReview |
| 0.25 | SERPINA1-R125H | het unknown | 0.140 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: 0.001 (benign), Testable gene in GeneTests with associated GeneReview |
| 0.25 | IL13-Q144R | het unknown | 0.766 | Unknown pharmacogenetic | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 0.25 | C5orf20-R117* | het unknown | Unknown | Insufficiently evaluated | Prioritization score: 2 Nonsense mutation | |
| 0.25 | C5orf20-N97D | het unknown | Unknown | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: Unknown | |
| 0.25 | C5orf20-T75P | het unknown | Unknown | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: Unknown | |
| 0.25 | IL7R-I66T | het unknown | 0.597 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests |
| 0.25 | IL7R-V138I | het unknown | 0.689 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests |
| 0.25 | TLR1-S602I | het unknown | 0.727 | Unknown pharmacogenetic | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 0.25 | TLR1-N248S | het unknown | 0.643 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: 0.001 (benign) |
| 0.25 | TLR1-R80T | het unknown | 0.019 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: 0.008 (benign) |
| 0.25 | SLC6A19-V252I | het unknown | 0.192 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests |
| 0.25 | MTTP-R46G | het unknown | Unknown | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests | |
| 0.25 | MTTP-I128T | het unknown | 0.250 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: Unknown, Testable gene in GeneTests |
| 0.25 | CD19-L174V | het unknown | 0.876 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.25 | UGT2B15-K523T | homozygous | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: Unknown | |
| 0.25 | UGT2B15-Y85D | het unknown | 0.500 | Unknown pharmacogenetic | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 0.25 | UGT2B7-Y268H | het unknown | 0.727 | Unknown pharmacogenetic | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 0.25 | SLC2A9-P350L | het unknown | 0.232 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: Unknown, Testable gene in GeneTests |
| 0.25 | SLC2A9-R294H | het unknown | 0.296 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 1.0 (probably damaging), Testable gene in GeneTests |
| 0.25 | SLC2A9-V282I | het unknown | 0.244 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: 0.138 (benign), Testable gene in GeneTests |
| 0.25 | MANBA-T701M | het unknown | 0.554 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests |
| 0.25 | MANBA-V253I | het unknown | 0.343 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.003 (benign), Testable gene in GeneTests |
| 0.25 | GK-D470V | het unknown | Unknown | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests | |
| 0.25 | GK-D470N | het unknown | 0.142 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: Unknown, Testable gene in GeneTests |
| 0.25 | TLR3-L412F | het unknown | 0.200 | Unknown pharmacogenetic | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: 0.991 (probably damaging) |
| 0.25 | SLC28A1-V189I | het unknown | 0.313 | Unknown pharmacogenetic | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 0.25 | SLC28A1-D521N | het unknown | 0.226 | Unknown pharmacogenetic | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 0.25 | BBS12-R386Q | het unknown | 0.515 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: 0.009 (benign), Testable gene in GeneTests with associated GeneReview |
| 0.25 | ANK2-P2835S | het unknown | 0.236 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests |
| 0.25 | ABAT-Q56R | het unknown | 0.485 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests |
| 0 | HFE-C282Y | het unknown | 0.018 | Recessive pathogenic | Low clinical importance, well-established | This variant is associated with hereditary haemochromatosis, 80% of patients with that disease are homozygous for this variant. However, the penetrance is low, in Beutler et al. they note that only 1 of their 158 homozygotes met criteria for diagnosis with the condition. |
| 0 | FAS-C135Shift | het unknown | Unknown | Insufficiently evaluated | Prioritization score: 4 Frameshift, Testable gene in GeneTests with associated GeneReview |
Input file format: CGIVAR
Genome build: b37
Genome coverage: 2,776,155,967 bases (97.1% of callable positions, 90.1% of total positions)
Coding region coverage: 32,941,918 bases (99.0% of all genes, 99.4% of genes with clinical testing available)
Chromosomes: chr1, chr10, chr11, chr12, chr13, chr14, chr15, chr16, chr17, chr18, chr19, chr2, chr20, chr21, chr22, chr3, chr4, chr5, chr6, chr7, chr8, chr9, chrM, chrX, chrY