Variant report for hu92C40A
- Data source: CGI sample GS01175-DNA_G03 from PGP sample 92527586
- This report: evidence.pgp-hms.org/genomes?093c35f402447996c6ecf3aa224657aae5f0a791
- Person ID: hu92C40A
- public profile: my.pgp-hms.org/profile/hu92C40A
- Download: source data, dbSNP and nsSNP report (117 MB)
- Processing status: processing
- Show debugging info
Log file:
| Row number | Variant | Clinical Importance | Evidence | Impact | Allele freq | Summary | Sufficient |
|---|---|---|---|---|---|---|---|
| 1 | BRCA2-F1866Shift | High | Well-established | Well-established pathogenic Unknown, Heterozygous | This frameshift introduces a premature stop codon. Frameshifts in the BRCA2 tumor-suppressing gene region are considered pathogenic (see "Discussion" -> "Novel Mutations" subsection in http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3583621/). | 1 | |
| 2 | SERPINA1-R247C | High | Uncertain | Uncertain pathogenic Recessive, Carrier (Heterozygous) | 0.00260271 | Predicted to be damaging, other recessive mutations in this gene cause antitrypsin alpha 1 deficiency, and this variant is mentioned in an online database linking it to this disease. | 1 |
| 3 | C3-R102G | Moderate | Likely | Likely pathogenic Complex/Other, Homozygous | 0.152073 | This variant (also called C3F) is common in Europeans (10.2% allele frequency), and is associated with age-related macular degeneration. In the US, 1.5% of adults over 40 have the disease, but the incidence increases strongly with age (>15% in women over 80). Assuming an average lifetime risk of ~10%, heterozygous individuals have a ~13% risk and homozygous have ~20%. | 1 |
| 4 | PPARG-P12A | Moderate | Uncertain | Uncertain not reviewed Unknown, Heterozygous | 0.0886782 | 1 | |
| 5 | COL4A1-Q1334H | Low | Likely | Likely pathogenic Dominant, Heterozygous | 0.324689 | This common variant has been associated with arterial stiffness and, in Japanese, a small increased risk of myocardial infarction (MI, a.k.a. heart attack). This last observation supported a dominant effect for this variant and, assuming a lifetime risk of 15% for MI, we estimate carriers have an additional risk of 0.5-3%. | 1 |
| 6 | MTRR-I49M | Low | Likely | Likely pathogenic Recessive, Homozygous | 0.451199 | This common variant (HapMap allele frequency of 31.3%) in a protein involved in folate (B9) and cobalamin (B12) metabolism and is often reported as "MTRR I22M" (an alternative transcript position). Mothers homozygous for this variant are associated with having around a increased chance of a child with Down syndrome (risk of 0.4%, average risk in population is 0.25%). Notably, age plays a far larger role in the rate of Down syndrome (risk is 4.5% for a mother 45-years-of-age), and it is unknown how this variant may combine with the effect of age. There are conflicting reports associating this variant with incidence of neural tube defects, possibly when combined with MTHFR A222V. | 1 |
| 7 | rs5186 | Low | Likely | Likely pathogenic Unknown, Heterozygous | 0.214878 | This common noncoding genetic variant has an allele frequency of ~30% and is associated with an increased risk of hypertension. If ~25% of non-carriers have hypertension, Bonnardeaux et al's data predict ~4% increased risk of hypertension per copy of this variant. This SNP is in the 3' noncoding region of the AGTR1 transcript (angiotensin II type 1 receptor), also known as AT2R1 or AT1R, which is a target of hypertension drugs. | 1 |
| 8 | CETP-A390P | Low | Likely | Likely pathogenic Unknown, Heterozygous | 0.0388548 | This variant is associated with slightly lower HDL (good) cholesterol, although it has a negligible effect (around 2 mg/dl). | 1 |
| 9 | ELAC2-S217L | Low | Uncertain | Uncertain pathogenic Complex/Other, Heterozygous | 0.273471 | Reported to be associated with increased susceptibility to prostate cancer, but later studies weaken the hypothesis. Xu et al.'s meta-analysis concludes that there is a small but significant increased risk (OR = 1.13). Assuming a lifetime risk of 16% for prostate cancer we calculate this leads to an increased risk of ~1.5% (17.5% total). | 1 |
| 10 | LRP5-A1330V | Low | Uncertain | Uncertain pathogenic Complex/Other, Heterozygous | 0.110367 | In a study of a UK population this variant was associated with a small increased risk of osteoporosis and osteoporotic bone fractures, with each copy of the variant presumed to have an additive effect. A study in Chinese young men failed to find an association with peak bone density. | 1 |
| 11 | 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 |
| 12 | 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 |
| 13 | 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 |
| 14 | 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 |
| 15 | DPYD-M166V | High | Likely | Likely pharmacogenetic Unknown, Heterozygous | 0.0778955 | Associated with DPYD deficiency and poor prognosis for chemotherapy w/ 5-flurorouracil. | 1 |
| 16 | CFB-R32Q | Moderate | Likely | Likely protective Dominant, Heterozygous | 0.117188 | This variant is associated with a significant protective effect -- individuals with this variant are about half as likely to have age-related macular degeneration. Appears to be an additive effect, with homozygotes having a stronger protective effect. | 1 |
| 17 | NPC1-H215R | Low | Likely | Likely protective Complex/Other, Heterozygous | 0.295687 | This variant is associated with a reduced risk of obesity, with an additive effect of -0.084 BMI per allele (an average of 0.54 pounds less, per allele, in a 5'6" individual). | 1 |
| 18 | TOR1A-D216H | Low | Likely | Likely protective Unknown, Heterozygous | 0.102993 | This SNP has been shown to be benign and play a protective role against Dystonia. | 1 |
| 19 | IL7R-T244I | Low | Likely | Likely protective Unknown, Heterozygous | 0.210169 | The reference genome variant for this allele has been associated with a slight increased risk of multiple sclerosis. Thus, this variant can be treated as a "protective" variant -- carriers of this variant are slightly less likely to have MS. Because the disease is rare and the effect of this variant is not very strong, the absolute decreased risk for carriers of this variant is less than .05% (less than 1 in 2000). | 1 |
| 20 | MTR-D919G | Low | Uncertain | Uncertain protective Complex/Other, Heterozygous | 0.217234 | This variant was weakly associated with a protective effect vs. colorectal cancer, but only in individuals with low alcohol consumption. | 1 |
| 21 | 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 |
| 22 | ARSA-N350S | Low | Well-established | Well-established benign Unknown, Heterozygous | 0.183199 | This common variant (HapMap 24.1% allele frequency) causes a loss of a glycosylation site (affecting the size of the protein when studied with gel electrophoresis) but does not affect enzyme activity or stability. | 1 |
| 23 | NEFL-S472Shift | Low | Likely | Likely benign Unknown, Homozygous | Although a frameshift in this gene would be predicted to cause Charcot-Marie Neuropathy, this particular position appears to reflect a single base insertion error/mutation in the reference genome (in other words, normal individuals are always homozygous for a deletion at this position relative to reference). See chr8:24,811,060-24,811,080 annotations on UCSC. | 1 | |
| 24 | CACNA1S-L458H | Low | Likely | Likely benign Unknown, Heterozygous | 0.27282 | Common polymorphism | 1 |
| 25 | OCA2-R419Q | Low | Likely | Likely benign Unknown, Heterozygous | 0.0565161 | This variant is associated with eye color, as is OCA2 R305W. Individuals with this variant are reported to be more likely to have green/hazel eyes as opposed to blue/gray eyes. Other variants in this gene are associated with oculocutaneous albinism (albinism which involves skin and eyes). | 1 |
| 26 | FANCI-P55L | Low | Likely | Likely benign Unknown, Heterozygous | 0.0507529 | Probably benign. | 1 |
| 27 | PMS2-P470S | Low | Likely | Likely benign Unknown, Heterozygous | 0.374884 | Benign, common variant. | 1 |
| 28 | 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 |
| 29 | OTOF-R822W | Low | Uncertain | Uncertain benign Unknown, Heterozygous | 0.0180678 | Rare variant, reported as a polymorphism also found in controls. Other severe variants in this gene are reported to cause autosomal recessive non-syndromic deafness. | 1 |
| 30 | ERCC6-R1230P | Low | Uncertain | Uncertain benign Unknown, Heterozygous | 0.0695297 | Probably benign. | 1 |
| 31 | COL5A2-P460S | Low | Uncertain | Uncertain benign Unknown, Heterozygous | 0.0400632 | Tentatively benign. Although predicted to be damaging by Polyphen 2, this variant is seen in 2 out of 62 PGP & public genomes. OMIM lists other more disruptive variants (frameshift & nonsense) as reported to cause Ehlers-Danlos syndrome when homozygous. | 1 |
| 32 | VWF-G2705R | Low | Uncertain | Uncertain benign Unknown, Homozygous | 0.0460123 | Probably benign, seems to be considered an uncommon polymorphism. | 1 |
| 33 | PCCA-I475V | Low | Uncertain | Uncertain benign Unknown, Heterozygous | 0.0377394 | Reported as a polymorphism, tentatively presumed benign. | 1 |
| 34 | COL7A1-P1277L | Low | Uncertain | Uncertain benign Unknown, Heterozygous | 0.0407139 | Polymorphism, presumed benign. | 1 |
| 35 | PCSK9-G670E | Low | Uncertain | Uncertain benign Unknown, Homozygous | 0.888269 | This variant is likely benign. | 1 |
| 36 | PALB2-E672Q | Low | Uncertain | Uncertain benign Unknown, Heterozygous | 0.0244469 | Probably benign. | 1 |
| 37 | GUCY2D-A52S | Low | Uncertain | Uncertain benign Recessive, Carrier (Heterozygous) | 0.21016 | One publication suggested that this variant possibly causes Leber's congenital amaurosis in a recessive manner, but the frequency data (36% in 1000 genomes) contradicts any significant pathogenic effect. | 1 |
| 38 | APOB-Y1422C | Low | Uncertain | Uncertain benign Unknown, Homozygous | 0.999628 | This position is almost certainly an error in the HG18 reference sequence. | 1 |
| 39 | ABCC11-G180R | Low | Uncertain | Uncertain benign Unknown, Heterozygous | 0.0976947 | This variant is associated with dry type ear wax (a benign trait) in a recessive manner. | 1 |
| 40 | ABCA4-R943Q | Low | Uncertain | Uncertain benign Unknown, Homozygous | 0.0316044 | This is a polymorphism in a gene associated with Stargardt disease. Although it has a slight detectable effect in functional study, it is common in control groups and is not believed to have any significant pathogenic effect. | 1 |
| 41 | PTCH1-P1315L | Low | Uncertain | Uncertain benign Unknown, Heterozygous | 0.29631 | Common polymorphism, presumed benign. | 1 |
| 42 | TAS2R38-I296V | Low | Uncertain | Uncertain benign Unknown, Heterozygous | 0.463376 | This variant is associated with "taster" status of PTC, along with 49P and 262A. Due to linkage disequilibrium, the independent effects of positions 296 and 262 is unclear. The presence of 49P confers taster status in a dominant fashion, but in the absence of 49P, the presence of 262A/296V is still positively associated with tasting PTC. | 1 |
| 43 | 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 |
| 44 | RP1-N985Y | Low | Uncertain | Uncertain benign Unknown, Heterozygous | 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 |
| 45 | TPCN2-G734E | Low | Uncertain | Uncertain benign Unknown, Heterozygous | 0.286166 | Pigmentation allele. | 1 |
| Row number | Variant | Prioritization score | Allele freq | Num of articles | Zygosity and Prioritization Score Reasons | Sufficient |
|---|
Exome coverage: 32883586 / 33212919 = 99.01%
| Row number | Gene | Chromosome | Coverage | Missing | Length | Missing regions |
|---|---|---|---|---|---|---|
| 1 | AGRN | 1 | 0.96790485500163 | 197 | 6138 | 955557-955563, 955576-955580, 955594-955599, 955609-955618, 955653-955659, 955662, 955670-955684, 976213-976219, 976226-976234, 976621, 981950-981951, 983600-983709, 983716-983725, 983729-983733, 983744-983745 |
| 2 | GABRD | 1 | 0.98454746136865 | 21 | 1359 | 1950863-1950879, 1950915-1950918 |
| 3 | ESPN | 1 | 0.87641325536062 | 317 | 2565 | 6488301-6488336, 6488377-6488384, 6488426-6488470, 6500482-6500488, 6500709-6500715, 6500738-6500761, 6500778, 6500830-6500868, 6501097-6501103, 6505726-6505738, 6505849-6505858, 6505888-6505937, 6508701-6508705, 6508882-6508888, 6511703-6511709, 6511907-6511942, 6512127-6512133, 6517244, 6517286-6517292 |
| 4 | PLEKHG5 | 1 | 0.97397303229853 | 83 | 3189 | 6534099-6534101, 6534108-6534109, 6534125, 6534128-6534130, 6534168, 6534208-6534224, 6534511-6534556, 6534573-6534582 |
| 5 | KIF1B | 1 | 0.99642386598908 | 19 | 5313 | 10381804, 10381807, 10425584-10425600 |
| 6 | TARDBP | 1 | 0.98393574297189 | 20 | 1245 | 11082519-11082538 |
| 7 | CLCNKA | 1 | 0.99321705426357 | 14 | 2064 | 16354391-16354397, 16360141-16360147 |
| 8 | ATP13A2 | 1 | 0.99633079311318 | 13 | 3543 | 17322593, 17322596, 17322600, 17322603-17322605, 17322611-17322617 |
| 9 | PINK1 | 1 | 0.9971363115693 | 5 | 1746 | 20960270-20960274 |
| 10 | HSPG2 | 1 | 0.99521857923497 | 63 | 13176 | 22263648-22263710 |
| 11 | WNT4 | 1 | 0.92708333333333 | 77 | 1056 | 22469339-22469415 |
| 12 | SEPN1 | 1 | 0.89028776978417 | 183 | 1668 | 26126722-26126904 |
| 13 | KCNQ4 | 1 | 0.99568965517241 | 9 | 2088 | 41249776, 41249787-41249794 |
| 14 | DHCR24 | 1 | 0.99871050934881 | 2 | 1551 | 55352596-55352597 |
| 15 | LEPR | 1 | 0.99542595769011 | 16 | 3498 | 66083710-66083718, 66083728-66083734 |
| 16 | GLMN | 1 | 0.99775910364146 | 4 | 1785 | 92731998-92732001 |
| 17 | DPYD | 1 | 0.9996751137102 | 1 | 3078 | 97847981 |
| 18 | COL11A1 | 1 | 0.98075865860363 | 105 | 5457 | 103364222-103364309, 103364321, 103364497-103364498, 103380342, 103435775-103435787 |
| 19 | GSTM1 | 1 | 0.62100456621005 | 249 | 657 | 110230496-110230531, 110230792-110230795, 110230798, 110230804, 110230810, 110230839, 110230854, 110230858, 110231300, 110231302-110231303, 110231691, 110231711-110231743, 110231871-110231947, 110232908-110232910, 110232925, 110232929-110232939, 110232948, 110232951-110232964, 110232979-110232983, 110233076-110233124, 110233138, 110233144-110233146, 110233149 |
| 20 | NOTCH2 | 1 | 0.97909924487594 | 155 | 7416 | 120465013-120465017, 120539665-120539714, 120539778-120539784, 120539912-120539955, 120548025, 120548051, 120548055, 120548091-120548097, 120572544-120572575, 120572609-120572610, 120611960, 120611964, 120612003-120612004, 120612006 |
| 21 | FLG | 1 | 0.99983587723617 | 2 | 12186 | 152276671, 152279406 |
| 22 | GBA | 1 | 0.99415204678363 | 7 | 1197 | 155184413-155184419 |
| 23 | PKLR | 1 | 0.99594202898551 | 7 | 1725 | 155269987-155269993 |
| 24 | NTRK1 | 1 | 0.99581764951903 | 10 | 2391 | 156830751-156830760 |
| 25 | KCNJ10 | 1 | 0.99736842105263 | 3 | 1140 | 160012066-160012068 |
| 26 | F5 | 1 | 0.98247191011236 | 117 | 6675 | 169510182-169510188, 169510269-169510296, 169510364-169510370, 169510377-169510434, 169510502, 169510515, 169510524, 169510634-169510640, 169511618-169511624 |
| 27 | HMCN1 | 1 | 0.99994085639934 | 1 | 16908 | 185953320 |
| 28 | PDC | 1 | 0.94871794871795 | 38 | 741 | 186418554-186418591 |
| 29 | CFH | 1 | 0.97537878787879 | 91 | 3696 | 196658661, 196658699-196658706, 196658717-196658744, 196697476-196697477, 196706730, 196712582-196712589, 196716353-196716395 |
| 30 | CFHR1 | 1 | 0.98388721047331 | 16 | 993 | 196797289-196797295, 196801042, 196801074-196801081 |
| 31 | CFHR5 | 1 | 0.99707602339181 | 5 | 1710 | 196953134, 196953186, 196977752, 196977755-196977756 |
| 32 | ASPM | 1 | 0.99913743530765 | 9 | 10434 | 197069647, 197069688, 197070697, 197070707, 197101437, 197101440, 197101443, 197101469, 197113148 |
| 33 | CD46 | 1 | 0.99416666666667 | 7 | 1200 | 207930362-207930368 |
| 34 | USH2A | 1 | 0.99993593439682 | 1 | 15609 | 215916593 |
| 35 | GJC2 | 1 | 0.97575757575758 | 32 | 1320 | 228345585, 228345678, 228345690-228345691, 228345782, 228345785, 228346066-228346070, 228346083, 228346091, 228346116, 228346342-228346347, 228346353-228346358, 228346365-228346367, 228346378, 228346401, 228346484 |
| 36 | LYST | 1 | 0.99859722952832 | 16 | 11406 | 235875432-235875444, 235907311-235907312, 235944318 |
| 37 | MTR | 1 | 0.99736703528173 | 10 | 3798 | 237013662-237013669, 237058734-237058735 |
| 38 | RYR2 | 1 | 0.99979871175523 | 3 | 14904 | 237821270, 237821287, 237821304 |
| 39 | FH | 1 | 0.99347684279191 | 10 | 1533 | 241661132-241661141 |
| 40 | CUBN | 10 | 0.99751655629139 | 27 | 10872 | 17142209-17142222, 17146579-17146591 |
| 41 | PTF1A | 10 | 0.99696048632219 | 3 | 987 | 23481913-23481915 |
| 42 | MYO3A | 10 | 0.99835085549371 | 8 | 4851 | 26355988-26355992, 26356003, 26414536-26414537 |
| 43 | RET | 10 | 0.98266068759342 | 58 | 3345 | 43572722-43572779 |
| 44 | CHAT | 10 | 0.91722296395194 | 186 | 2247 | 50822265-50822442, 50822460-50822467 |
| 45 | PCDH15 | 10 | 0.9957547970793 | 25 | 5889 | 55587194-55587218 |
| 46 | CDH23 | 10 | 0.99960222752586 | 4 | 10056 | 73567281, 73567291-73567293 |
| 47 | VCL | 10 | 0.99823788546256 | 6 | 3405 | 75867073-75867078 |
| 48 | BMPR1A | 10 | 0.99562226391495 | 7 | 1599 | 88683143-88683149 |
| 49 | GLUD1 | 10 | 0.99582587954681 | 7 | 1677 | 88836362-88836368 |
| 50 | HPS6 | 10 | 0.99871134020619 | 3 | 2328 | 103827016-103827017, 103827020 |
| 51 | SUFU | 10 | 0.98762886597938 | 18 | 1455 | 104263949-104263957, 104263963, 104263974-104263975, 104263978-104263983 |
| 52 | HTRA1 | 10 | 0.97366597366597 | 38 | 1443 | 124221169-124221173, 124221196-124221226, 124221327-124221328 |
| 53 | SLC25A22 | 11 | 0.99279835390947 | 7 | 972 | 792652-792656, 792668, 792683 |
| 54 | TH | 11 | 0.99555555555556 | 7 | 1575 | 2191027, 2191934, 2191943-2191947 |
| 55 | KCNQ1 | 11 | 0.99852289512555 | 3 | 2031 | 2466395, 2609943-2609944 |
| 56 | CDKN1C | 11 | 0.83175604626709 | 160 | 951 | 2905944-2905960, 2905969-2905972, 2906063-2906066, 2906069, 2906074-2906114, 2906123, 2906136-2906145, 2906155, 2906165, 2906177, 2906185, 2906193-2906201, 2906208-2906227, 2906232, 2906239-2906240, 2906328-2906331, 2906378-2906415, 2906472-2906475 |
| 57 | SMPD1 | 11 | 0.99630801687764 | 7 | 1896 | 6411935-6411941 |
| 58 | USH1C | 11 | 0.99851851851852 | 4 | 2700 | 17531316-17531319 |
| 59 | ANO5 | 11 | 0.98395331874544 | 44 | 2742 | 22276987, 22277002-22277005, 22277008, 22277011, 22277024-22277026, 22277035-22277068 |
| 60 | PDHX | 11 | 0.99535192563081 | 7 | 1506 | 34991774-34991780 |
| 61 | SLC35C1 | 11 | 0.99905303030303 | 1 | 1056 | 45827806 |
| 62 | GIF | 11 | 0.99920255183413 | 1 | 1254 | 59599164 |
| 63 | BSCL2 | 11 | 0.99928005759539 | 1 | 1389 | 62472932 |
| 64 | SLC22A12 | 11 | 0.99819494584838 | 3 | 1662 | 64359364, 64367275-64367276 |
| 65 | PYGM | 11 | 0.9984183471728 | 4 | 2529 | 64526075-64526078 |
| 66 | SPTBN2 | 11 | 0.99818764812491 | 13 | 7173 | 66468151-66468163 |
| 67 | AIP | 11 | 0.99798590130916 | 2 | 993 | 67257559, 67257562 |
| 68 | LRP5 | 11 | 0.9878300330033 | 59 | 4848 | 68080183-68080200, 68080207-68080246, 68207288 |
| 69 | DHCR7 | 11 | 0.97478991596639 | 36 | 1428 | 71146510, 71146574-71146577, 71146584-71146614 |
| 70 | MYO7A | 11 | 0.9998495788207 | 1 | 6648 | 76922295 |
| 71 | TRPC6 | 11 | 0.99713876967096 | 8 | 2796 | 101454167-101454174 |
| 72 | DYNC2H1 | 11 | 0.99474700656624 | 68 | 12945 | 102984298-102984310, 102984330, 102984364, 102984407, 102991490, 102999647, 103029417-103029420, 103043811-103043812, 103043825-103043826, 103049755, 103059226-103059229, 103062255, 103062343-103062348, 103080673-103080688, 103082658, 103106417, 103128443-103128451, 103152948-103152950 |
| 73 | ATM | 11 | 0.99345763820739 | 60 | 9171 | 108126967, 108126990-108127048 |
| 74 | DLAT | 11 | 0.99537037037037 | 9 | 1944 | 111909971-111909972, 111909992-111909994, 111910000-111910002, 111910010 |
| 75 | CACNA1C | 12 | 0.99801859472641 | 13 | 6561 | 2797831-2797843 |
| 76 | VWF | 12 | 0.98981284055911 | 86 | 8442 | 6122647, 6125338-6125344, 6128892, 6128898, 6131925-6131932, 6131955-6131997, 6132009-6132033 |
| 77 | TNFRSF1A | 12 | 0.99926900584795 | 1 | 1368 | 6438612 |
| 78 | SCNN1A | 12 | 0.99954275262917 | 1 | 2187 | 6472641 |
| 79 | ATN1 | 12 | 0.99580184718724 | 15 | 3573 | 7045892-7045900, 7045914-7045916, 7046322-7046324 |
| 80 | GYS2 | 12 | 0.98674242424242 | 28 | 2112 | 21712029-21712050, 21712059-21712064 |
| 81 | ABCC9 | 12 | 0.99182795698925 | 38 | 4650 | 22063800-22063837 |
| 82 | KRAS | 12 | 0.99824561403509 | 1 | 570 | 25380209 |
| 83 | KIF21A | 12 | 0.9997994384276 | 1 | 4986 | 39720122 |
| 84 | LRRK2 | 12 | 0.99815400843882 | 14 | 7584 | 40671739, 40742254, 40761464, 40761523-40761531, 40761537-40761538 |
| 85 | MLL2 | 12 | 0.99981942939689 | 3 | 16614 | 49424132, 49426923, 49431296 |
| 86 | TUBA1A | 12 | 0.82236842105263 | 81 | 456 | 49522195-49522241, 49522575-49522608 |
| 87 | KRT81 | 12 | 0.97957839262187 | 31 | 1518 | 52681101-52681106, 52682999-52683005, 52684011-52684028 |
| 88 | KRT86 | 12 | 0.98288843258042 | 25 | 1461 | 52696926-52696943, 52697949-52697955 |
| 89 | KRT6B | 12 | 0.95870206489676 | 70 | 1695 | 52841338-52841344, 52843578-52843584, 52844243, 52844246, 52844265, 52845528-52845534, 52845598-52845604, 52845662-52845686, 52845713-52845719, 52845798-52845804 |
| 90 | KRT6C | 12 | 0.94100294985251 | 100 | 1695 | 52863213, 52864945-52864973, 52865903, 52865906, 52865918, 52865925, 52866060, 52867091-52867108, 52867187-52867193, 52867257-52867263, 52867321-52867346, 52867457-52867463 |
| 91 | KRT6A | 12 | 0.96401179941003 | 61 | 1695 | 52881868-52881874, 52886553-52886559, 52886638-52886644, 52886708-52886714, 52886772-52886797, 52886908-52886914 |
| 92 | KRT5 | 12 | 0.99548787366046 | 8 | 1773 | 52908846, 52911919-52911925 |
| 93 | KRT1 | 12 | 0.99586563307494 | 8 | 1935 | 53072514-53072517, 53074091-53074094 |
| 94 | LEMD3 | 12 | 0.99451754385965 | 15 | 2736 | 65612358-65612363, 65612371-65612376, 65612394-65612396 |
| 95 | TPH2 | 12 | 0.99524779361847 | 7 | 1473 | 72366350-72366356 |
| 96 | CEP290 | 12 | 0.99758064516129 | 18 | 7440 | 88449452-88449455, 88514016-88514017, 88514020, 88519111-88519120, 88532968 |
| 97 | PAH | 12 | 0.99632082413539 | 5 | 1359 | 103234178-103234182 |
| 98 | ATXN2 | 12 | 0.97133434804668 | 113 | 3942 | 112036741, 112036745-112036756, 112036760-112036762, 112036768-112036771, 112036797-112036805, 112036823, 112036925-112036976, 112036986-112036987, 112036995, 112036999-112037000, 112037038-112037045, 112037057, 112037207-112037223 |
| 99 | PUS1 | 12 | 0.99922118380062 | 1 | 1284 | 132426014 |
| 100 | SACS | 13 | 0.9990538573508 | 13 | 13740 | 23908620-23908628, 23908632-23908633, 23908637-23908638 |
| 101 | BRCA2 | 13 | 0.99990250560593 | 1 | 10257 | 32903621 |
| 102 | SUCLA2 | 13 | 0.9992816091954 | 1 | 1392 | 48528674 |
| 103 | RB1 | 13 | 0.99748833871546 | 7 | 2787 | 48921961, 48921985-48921989, 49047524 |
| 104 | ZIC2 | 13 | 0.94183864915572 | 93 | 1599 | 100634923-100634934, 100637716, 100637718-100637727, 100637739-100637740, 100637781, 100637817-100637875, 100637882-100637883, 100637888, 100637914, 100637919-100637922 |
| 105 | PCCA | 13 | 0.99908550525834 | 2 | 2187 | 100909912-100909913 |
| 106 | F10 | 13 | 0.9986366734833 | 2 | 1467 | 113777178, 113777182 |
| 107 | PABPN1 | 14 | 0.82953311617807 | 157 | 921 | 23790691-23790714, 23790806-23790823, 23790856-23790902, 23790919-23790985, 23791011 |
| 108 | MYH6 | 14 | 0.99965635738832 | 2 | 5820 | 23855316-23855317 |
| 109 | MYH7 | 14 | 0.99948347107438 | 3 | 5808 | 23887511-23887513 |
| 110 | FOXG1 | 14 | 0.79319727891156 | 304 | 1470 | 29236620-29236650, 29236674-29236946 |
| 111 | NKX2-1 | 14 | 0.99170812603648 | 10 | 1206 | 36988372-36988379, 36988383-36988384 |
| 112 | FANCM | 14 | 0.99202863185294 | 49 | 6147 | 45623906-45623928, 45623942-45623954, 45623972-45623973, 45623978, 45623984-45623993 |
| 113 | SYNE2 | 14 | 0.9998552403011 | 3 | 20724 | 64443281, 64457705, 64688294 |
| 114 | ZFYVE26 | 14 | 0.9998687664042 | 1 | 7620 | 68244319 |
| 115 | ESRRB | 14 | 0.99869024230517 | 2 | 1527 | 76964704, 76964792 |
| 116 | ATXN3 | 14 | 0.98158379373849 | 20 | 1086 | 92559643-92559662 |
| 117 | VRK1 | 14 | 0.9823677581864 | 21 | 1191 | 97304131-97304151 |
| 118 | INF2 | 14 | 0.92133333333333 | 295 | 3750 | 105173764-105173769, 105173859-105174140, 105174149, 105174152, 105174161, 105174182-105174185 |
| 119 | NIPA1 | 15 | 0.82020202020202 | 178 | 990 | 23086234-23086411 |
| 120 | UBE3A | 15 | 0.98439878234399 | 41 | 2628 | 25616620-25616660 |
| 121 | CHST14 | 15 | 0.96816976127321 | 36 | 1131 | 40763414-40763418, 40763422, 40763429, 40763438, 40763453-40763455, 40763458, 40763463-40763467, 40763472, 40763477-40763485, 40763501, 40763521-40763528 |
| 122 | STRC | 15 | 0.97822822822823 | 116 | 5328 | 43892844-43892850, 43893070-43893075, 43896280-43896312, 43897496-43897502, 43900173, 43906240-43906251, 43910436-43910444, 43910863-43910903 |
| 123 | DUOX2 | 15 | 0.99892403701313 | 5 | 4647 | 45397958-45397962 |
| 124 | SLC12A1 | 15 | 0.98636363636364 | 45 | 3300 | 48527130-48527173, 48577377 |
| 125 | CEP152 | 15 | 0.99818731117825 | 9 | 4965 | 49036451-49036453, 49036462-49036466, 49083491 |
| 126 | HCN4 | 15 | 0.99944629014396 | 2 | 3612 | 73616151, 73616191 |
| 127 | ETFA | 15 | 0.99600798403194 | 4 | 1002 | 76566796-76566799 |
| 128 | POLG | 15 | 0.99838709677419 | 6 | 3720 | 89876828-89876833 |
| 129 | MESP2 | 15 | 0.97654941373534 | 28 | 1194 | 90320121-90320146, 90320149, 90320161 |
| 130 | BLM | 15 | 0.99882463563705 | 5 | 4254 | 91337527, 91337533, 91337554-91337556 |
| 131 | IGF1R | 15 | 0.99829434697856 | 7 | 4104 | 99454579-99454585 |
| 132 | HBZ | 16 | 0.88811188811189 | 48 | 429 | 203946-203991, 204271-204272 |
| 133 | HBM | 16 | 0.98591549295775 | 6 | 426 | 216327-216332 |
| 134 | CLCN7 | 16 | 0.9793217535153 | 50 | 2418 | 1524899-1524948 |
| 135 | GFER | 16 | 0.93527508090615 | 40 | 618 | 2034325-2034331, 2034334, 2034352-2034383 |
| 136 | TSC2 | 16 | 0.99944690265487 | 3 | 5424 | 2103396-2103398 |
| 137 | PKD1 | 16 | 0.93695786864932 | 814 | 12912 | 2140974-2140975, 2140983, 2140988-2140990, 2140995-2140999, 2147156, 2147159-2147160, 2147914-2147952, 2149669-2149675, 2149876, 2150019-2150025, 2150059, 2150167-2150174, 2150470-2150484, 2152126-2152132, 2152243-2152257, 2152552-2152574, 2153592-2153621, 2153691-2153697, 2153711-2153741, 2153764-2153782, 2154570-2154614, 2155368-2155374, 2156018-2156025, 2156136-2156142, 2156442-2156462, 2156520-2156526, 2156806-2156817, 2156901-2156941, 2158528-2158534, 2158709-2158715, 2159042-2159048, 2159110-2159150, 2159313-2159319, 2159403-2159409, 2159577-2159584, 2159792-2159798, 2159837-2159843, 2159960-2159966, 2160430-2160436, 2160718-2160734, 2160769-2160775, 2162824-2162842, 2164171-2164178, 2164403-2164409, 2164808, 2166834-2166845, 2166975-2166982, 2167829-2167878, 2167968-2168000, 2168056-2168075, 2168130, 2168209-2168237, 2168704-2168733, 2169316-2169322, 2185510-2185538, 2185579-2185601, 2185662-2185690 |
| 138 | CREBBP | 16 | 0.99972711147496 | 2 | 7329 | 3828182-3828183 |
| 139 | GLIS2 | 16 | 0.99238095238095 | 12 | 1575 | 4387057-4387068 |
| 140 | ALG1 | 16 | 0.94336917562724 | 79 | 1395 | 5130959-5130999, 5131020-5131057 |
| 141 | ABCC6 | 16 | 0.98404255319149 | 72 | 4512 | 16276749-16276752, 16315576-16315611, 16315643-16315674 |
| 142 | OTOA | 16 | 0.99766081871345 | 8 | 3420 | 21747697, 21756211-21756217 |
| 143 | OTOA | 16 | 0.9929718875502 | 7 | 996 | 22572334-22572340 |
| 144 | CLN3 | 16 | 0.9916476841306 | 11 | 1317 | 28497679-28497682, 28497686-28497692 |
| 145 | PHKG2 | 16 | 0.92219492219492 | 95 | 1221 | 30760142-30760236 |
| 146 | FUS | 16 | 0.99936748893106 | 1 | 1581 | 31201717 |
| 147 | SLC5A2 | 16 | 0.99356116889549 | 13 | 2019 | 31500053-31500058, 31500062-31500068 |
| 148 | CYLD | 16 | 0.99930118798043 | 2 | 2862 | 50785655, 50785684 |
| 149 | SALL1 | 16 | 0.99496855345912 | 20 | 3975 | 51175646, 51175649-51175658, 51175663-51175671 |
| 150 | RPGRIP1L | 16 | 0.99746707193516 | 10 | 3948 | 53672263-53672266, 53672310-53672315 |
| 151 | CNGB1 | 16 | 0.99920127795527 | 3 | 3756 | 57949175-57949177 |
| 152 | HSD11B2 | 16 | 0.9688013136289 | 38 | 1218 | 67465215-67465245, 67465306, 67470522-67470523, 67470532-67470535 |
| 153 | COG8 | 16 | 0.99401848830886 | 11 | 1839 | 69373263-69373273 |
| 154 | MLYCD | 16 | 0.98987854251012 | 15 | 1482 | 83932788-83932791, 83932809, 83932813, 83932816, 83932985-83932989, 83932992, 83933090-83933091 |
| 155 | FOXC2 | 16 | 0.98207171314741 | 27 | 1506 | 86601668, 86602359-86602384 |
| 156 | JPH3 | 16 | 0.99910992434357 | 2 | 2247 | 87723352, 87723355 |
| 157 | GALNS | 16 | 0.9987253027406 | 2 | 1569 | 88923233-88923234 |
| 158 | SPG7 | 16 | 0.99790619765494 | 5 | 2388 | 89576898, 89579415-89579418 |
| 159 | AIPL1 | 17 | 0.98095238095238 | 22 | 1155 | 6329048-6329069 |
| 160 | PITPNM3 | 17 | 0.99760683760684 | 7 | 2925 | 6358753-6358755, 6358796-6358799 |
| 161 | GUCY2D | 17 | 0.99486714975845 | 17 | 3312 | 7906373-7906389 |
| 162 | HES7 | 17 | 0.97787610619469 | 15 | 678 | 8024990-8025000, 8025003-8025004, 8025674, 8025679 |
| 163 | MYH2 | 17 | 0.9998283556471 | 1 | 5826 | 10446423 |
| 164 | ELAC2 | 17 | 0.99959693671906 | 1 | 2481 | 12896189 |
| 165 | COX10 | 17 | 0.98948948948949 | 14 | 1332 | 14095306-14095312, 14095345-14095351 |
| 166 | RAI1 | 17 | 0.99842684845307 | 9 | 5721 | 17697094-17697102 |
| 167 | MYO15A | 17 | 0.99943358821863 | 6 | 10593 | 18024033-18024037, 18024041 |
| 168 | UNC119 | 17 | 0.92392807745505 | 55 | 723 | 26879397-26879406, 26879412-26879454, 26879520-26879521 |
| 169 | NF1 | 17 | 0.99929577464789 | 6 | 8520 | 29422337, 29422381-29422382, 29483001, 29533295-29533296 |
| 170 | KRT10 | 17 | 0.9960113960114 | 7 | 1755 | 38975242-38975248 |
| 171 | KRT13 | 17 | 0.99927378358751 | 1 | 1377 | 39658745 |
| 172 | KRT14 | 17 | 0.96476391825229 | 50 | 1419 | 39741304-39741309, 39742829-39742872 |
| 173 | KRT16 | 17 | 0.91490857946554 | 121 | 1422 | 39766240-39766281, 39767609-39767615, 39768412-39768418, 39768490-39768496, 39768740-39768759, 39768816-39768853 |
| 174 | KRT17 | 17 | 0.97459584295612 | 33 | 1299 | 39780465-39780471, 39780516-39780540, 39780761 |
| 175 | STAT5B | 17 | 0.99027072758037 | 23 | 2364 | 40371359, 40371368-40371383, 40371389-40371394 |
| 176 | WNK4 | 17 | 0.9986602357985 | 5 | 3732 | 40932782, 40932787, 40947167-40947169 |
| 177 | SOST | 17 | 0.99221183800623 | 5 | 642 | 41832884-41832888 |
| 178 | GRN | 17 | 0.99775533108866 | 4 | 1782 | 42429896-42429899 |
| 179 | PLEKHM1 | 17 | 0.99463891516872 | 17 | 3171 | 43528094-43528100, 43531541, 43552534-43552540, 43552717, 43552921 |
| 180 | WNT3 | 17 | 0.99906367041199 | 1 | 1068 | 44851114 |
| 181 | COL1A1 | 17 | 0.99817974971559 | 8 | 4395 | 48265936-48265939, 48265946-48265949 |
| 182 | RAD51C | 17 | 0.99381078691424 | 7 | 1131 | 56780646-56780652 |
| 183 | BRIP1 | 17 | 0.9976 | 9 | 3750 | 59793319-59793320, 59793377-59793383 |
| 184 | ACE | 17 | 0.9905636317266 | 37 | 3921 | 61554484-61554514, 61574555-61574558, 61574561-61574562 |
| 185 | PRKAR1A | 17 | 0.98952879581152 | 12 | 1146 | 66522012-66522023 |
| 186 | SEPT9 | 17 | 0.92277115275412 | 136 | 1761 | 75494605-75494740 |
| 187 | SGSH | 17 | 0.9973492379059 | 4 | 1509 | 78194109-78194112 |
| 188 | NPC1 | 18 | 0.99947875944748 | 2 | 3837 | 21115542, 21166298 |
| 189 | LAMA3 | 18 | 0.999700059988 | 3 | 10002 | 21269656, 21483947, 21483950 |
| 190 | DSG2 | 18 | 0.99880845993447 | 4 | 3357 | 29078216-29078219 |
| 191 | LOXHD1 | 18 | 0.99080771549126 | 61 | 6636 | 44126858-44126914, 44140189-44140192 |
| 192 | MYO5B | 18 | 0.99332972778078 | 37 | 5547 | 47352944-47352980 |
| 193 | SMAD4 | 18 | 0.99939722724533 | 1 | 1659 | 48593468 |
| 194 | TNFRSF11A | 18 | 0.98595353862777 | 26 | 1851 | 59992586-59992611 |
| 195 | CTDP1 | 18 | 0.997227997228 | 8 | 2886 | 77513692, 77513696-77513698, 77513704-77513706, 77513715 |
| 196 | ELANE | 19 | 0.91293532338308 | 70 | 804 | 853262-853282, 853294-853329, 853336-853348 |
| 197 | KISS1R | 19 | 0.98245614035088 | 21 | 1197 | 918606, 918618-918619, 918664-918668, 920313-920316, 920322, 920330, 920337, 920348-920351, 920377, 920734 |
| 198 | MAP2K2 | 19 | 0.92352452202826 | 92 | 1203 | 4123781-4123872 |
| 199 | C3 | 19 | 0.9989983974359 | 5 | 4992 | 6707096-6707097, 6707100, 6707115-6707116 |
| 200 | INSR | 19 | 0.99951795613401 | 2 | 4149 | 7293867, 7293873 |
| 201 | MCOLN1 | 19 | 0.99885255306942 | 2 | 1743 | 7598507-7598508 |
| 202 | PRKCSH | 19 | 0.97542533081285 | 39 | 1587 | 11558338-11558376 |
| 203 | CACNA1A | 19 | 0.99375083100652 | 47 | 7521 | 13318672-13318682, 13318693-13318700, 13318707-13318708, 13318794, 13318801-13318803, 13318807-13318821, 13318824-13318828, 13318841, 13319693 |
| 204 | NOTCH3 | 19 | 0.99239161642262 | 53 | 6966 | 15311632, 15311644-15311645, 15311649-15311682, 15311686-15311698, 15311701-15311703 |
| 205 | JAK3 | 19 | 0.99940740740741 | 2 | 3375 | 17949196-17949197 |
| 206 | CEBPA | 19 | 0.96378830083565 | 39 | 1077 | 33792864, 33792921-33792923, 33792984, 33793008-33793010, 33793019-33793030, 33793033, 33793143-33793145, 33793166-33793167, 33793198-33793203, 33793209-33793211, 33793214-33793216, 33793298 |
| 207 | SCN1B | 19 | 0.95043370508055 | 40 | 807 | 35521725-35521764 |
| 208 | PRODH2 | 19 | 0.99565487274984 | 7 | 1611 | 36297975-36297981 |
| 209 | WDR62 | 19 | 0.99890638670166 | 5 | 4572 | 36558310, 36595927-36595930 |
| 210 | RYR1 | 19 | 0.99794932857048 | 31 | 15117 | 38998432, 39055788-39055789, 39055822-39055834, 39055837-39055839, 39055844-39055850, 39055855, 39055876, 39055908, 39055917, 39055966 |
| 211 | PRX | 19 | 0.98176014591883 | 80 | 4386 | 40901113, 40901306-40901311, 40901314-40901317, 40901323-40901328, 40909613-40909616, 40909640, 40909689, 40909698-40909705, 40909715-40909735, 40909742-40909769 |
| 212 | BCAM | 19 | 0.99099099099099 | 17 | 1887 | 45312382-45312389, 45312395, 45312413-45312418, 45321861-45321862 |
| 213 | DBP | 19 | 0.93967280163599 | 59 | 978 | 49136888-49136895, 49138847-49138865, 49138878-49138909 |
| 214 | MED25 | 19 | 0.99866310160428 | 3 | 2244 | 50339521-50339523 |
| 215 | KCNC3 | 19 | 0.86807387862797 | 300 | 2274 | 50823503-50823585, 50826409, 50826419, 50826450-50826453, 50826459, 50831496, 50831524-50831525, 50831580, 50831583, 50831727-50831728, 50831731, 50831944-50831971, 50831993, 50831997, 50832008, 50832031, 50832141, 50832150-50832152, 50832156, 50832159-50832162, 50832165, 50832180-50832339 |
| 216 | PRKCG | 19 | 0.99331423113658 | 14 | 2094 | 54392992, 54393150, 54393153, 54410080-54410090 |
| 217 | NLRP7 | 19 | 0.99775208734746 | 7 | 3114 | 55451167-55451173 |
| 218 | TNNT1 | 19 | 0.99493029150824 | 4 | 789 | 55658051-55658053, 55658067 |
| 219 | KLF11 | 2 | 0.99870045484081 | 2 | 1539 | 10183875, 10183879 |
| 220 | MYCN | 2 | 0.99928315412186 | 1 | 1395 | 16082580 |
| 221 | APOB | 2 | 0.99905054046158 | 13 | 13692 | 21266771-21266783 |
| 222 | OTOF | 2 | 0.98631965298632 | 82 | 5994 | 26697533-26697539, 26699759-26699778, 26699786, 26699818, 26699830-26699831, 26699834-26699839, 26699850-26699854, 26699874-26699911, 26700119-26700120 |
| 223 | ALK | 2 | 0.99753238741518 | 12 | 4863 | 29451782-29451783, 29451787-29451796 |
| 224 | SPAST | 2 | 0.90491626148028 | 176 | 1851 | 32289009-32289042, 32289087-32289091, 32289094-32289099, 32289102-32289103, 32289107-32289110, 32289119-32289121, 32289126-32289131, 32289141-32289244, 32289253-32289257, 32339755-32339761 |
| 225 | MSH2 | 2 | 0.98787878787879 | 34 | 2805 | 47639646-47639679 |
| 226 | MSH6 | 2 | 0.98995836394808 | 41 | 4083 | 48010373-48010381, 48010448, 48010463-48010465, 48010527-48010554 |
| 227 | NRXN1 | 2 | 0.99977401129943 | 1 | 4425 | 50765570 |
| 228 | EFEMP1 | 2 | 0.98987854251012 | 15 | 1482 | 56102081-56102084, 56102089, 56102097, 56144954-56144956, 56144970-56144975 |
| 229 | ALMS1 | 2 | 0.99872040946897 | 16 | 12504 | 73613032-73613047 |
| 230 | DCTN1 | 2 | 0.99583007557988 | 16 | 3837 | 74590476-74590483, 74592662-74592668, 74598106 |
| 231 | SUCLG1 | 2 | 0.98078770413064 | 20 | 1041 | 84668515-84668534 |
| 232 | REEP1 | 2 | 0.97854785478548 | 13 | 606 | 86564603-86564615 |
| 233 | EIF2AK3 | 2 | 0.9967173977917 | 11 | 3351 | 88926730-88926732, 88926749, 88926752-88926755, 88926760-88926762 |
| 234 | RANBP2 | 2 | 0.92640826873385 | 712 | 9675 | 109347317-109347341, 109347874-109347894, 109357050-109357056, 109357110-109357116, 109365400-109365429, 109367831-109367847, 109368046-109368052, 109368074-109368110, 109368327-109368340, 109369454-109369455, 109369543-109369554, 109369915-109369948, 109370332-109370363, 109371385-109371424, 109371495-109371512, 109371632-109371633, 109371656-109371688, 109374869-109374872, 109374952, 109378650-109378651, 109382722-109382754, 109382787-109382793, 109382843, 109382889-109382896, 109382923-109382946, 109383052-109383058, 109383084-109383113, 109383142-109383178, 109383268-109383297, 109383315-109383321, 109383354-109383360, 109383676-109383682, 109383769-109383780, 109383822-109383828, 109383885-109383891, 109384003-109384013, 109384164-109384175, 109384447-109384473, 109384505-109384511, 109384542-109384567, 109384597-109384615, 109384628-109384667, 109400052 |
| 235 | MERTK | 2 | 0.985 | 45 | 3000 | 112656313-112656356, 112687088 |
| 236 | GLI2 | 2 | 0.99957992018484 | 2 | 4761 | 121746086, 121746153 |
| 237 | BIN1 | 2 | 0.98597081930415 | 25 | 1782 | 127808378-127808402 |
| 238 | PROC | 2 | 0.9992784992785 | 1 | 1386 | 128180705 |
| 239 | CFC1 | 2 | 0.98958333333333 | 7 | 672 | 131280809-131280815 |
| 240 | NEB | 2 | 0.9984980474617 | 30 | 19974 | 152432683, 152432713, 152432730-152432733, 152432754-152432759, 152432781-152432797, 152511867 |
| 241 | CHN1 | 2 | 0.99710144927536 | 4 | 1380 | 175689183-175689186 |
| 242 | AGPS | 2 | 0.97066262013151 | 58 | 1977 | 178346788-178346803, 178346809-178346816, 178346822-178346829, 178346840-178346852, 178346862, 178346866, 178346869-178346877, 178346885-178346886 |
| 243 | TTN | 2 | 0.99987032160243 | 13 | 100248 | 179415987, 179523733-179523740, 179654183-179654186 |
| 244 | COL3A1 | 2 | 0.99227448307203 | 34 | 4401 | 189871663-189871686, 189871712-189871713, 189872648-189872654, 189872664 |
| 245 | PMS1 | 2 | 0.99964272954627 | 1 | 2799 | 190718688 |
| 246 | STAT1 | 2 | 0.99778073679538 | 5 | 2253 | 191843624, 191843627-191843628, 191843631, 191859893 |
| 247 | HSPD1 | 2 | 0.99825783972125 | 3 | 1722 | 198351828-198351829, 198351839 |
| 248 | ALS2 | 2 | 0.99979895456373 | 1 | 4974 | 202626389 |
| 249 | FASTKD2 | 2 | 0.9985935302391 | 3 | 2133 | 207652726-207652728 |
| 250 | ABCA12 | 2 | 0.99987159732922 | 1 | 7788 | 215854176 |
| 251 | SMARCAL1 | 2 | 0.99965095986038 | 1 | 2865 | 217347569 |
| 252 | OBSL1 | 2 | 0.99560709892813 | 25 | 5691 | 220435691, 220435703, 220435738-220435759, 220435920 |
| 253 | COL4A3 | 2 | 0.99780570516657 | 11 | 5013 | 228163406-228163416 |
| 254 | CHRND | 2 | 0.9967824967825 | 5 | 1554 | 233390927-233390931 |
| 255 | UGT1A1 | 2 | 0.99188514357054 | 13 | 1602 | 234668948-234668949, 234668952-234668962 |
| 256 | COL6A3 | 2 | 0.99391650933501 | 58 | 9534 | 238245050-238245096, 238250770-238250780 |
| 257 | AVP | 20 | 0.78585858585859 | 106 | 495 | 3063365, 3063383-3063388, 3063623-3063652, 3063658-3063705, 3063786-3063805, 3063809 |
| 258 | PANK2 | 20 | 0.99766491535318 | 4 | 1713 | 3870267-3870269, 3870272 |
| 259 | SNTA1 | 20 | 0.98880105401845 | 17 | 1518 | 32031376, 32031382-32031387, 32031409-32031412, 32031415-32031420 |
| 260 | HNF4A | 20 | 0.98245614035088 | 25 | 1425 | 43052769-43052793 |
| 261 | CTSA | 20 | 0.99799599198397 | 3 | 1497 | 44520238-44520240 |
| 262 | CHRNA4 | 20 | 0.99309978768577 | 13 | 1884 | 61992500-61992512 |
| 263 | KCNQ2 | 20 | 0.99961817487591 | 1 | 2619 | 62103714 |
| 264 | SOX18 | 20 | 0.70735930735931 | 338 | 1155 | 62680512-62680716, 62680732-62680745, 62680751-62680869 |
| 265 | IFNGR2 | 21 | 0.93984220907298 | 61 | 1014 | 34775850, 34775856-34775862, 34775869-34775921 |
| 266 | RUNX1 | 21 | 0.999306999307 | 1 | 1443 | 36164454 |
| 267 | AIRE | 21 | 0.995115995116 | 8 | 1638 | 45707016, 45711007, 45713053-45713058 |
| 268 | ITGB2 | 21 | 0.9969696969697 | 7 | 2310 | 46308608, 46308614-46308619 |
| 269 | COL18A1 | 21 | 0.99924026590693 | 4 | 5265 | 46876562, 46888246, 46888249-46888250 |
| 270 | COL6A1 | 21 | 0.99708454810496 | 9 | 3087 | 47401765, 47401792, 47410178-47410183, 47410307 |
| 271 | COL6A2 | 21 | 0.99967320261438 | 1 | 3060 | 47552006 |
| 272 | PCNT | 21 | 0.99900109879133 | 10 | 10011 | 47754449, 47832898-47832906 |
| 273 | PEX26 | 22 | 0.99019607843137 | 9 | 918 | 18561223-18561231 |
| 274 | GP1BB | 22 | 0.99355877616747 | 4 | 621 | 19711684-19711687 |
| 275 | TBX1 | 22 | 0.87768817204301 | 182 | 1488 | 19748428-19748599, 19753449, 19753968-19753974, 19754353-19754354 |
| 276 | CHEK2 | 22 | 0.94491766042022 | 97 | 1761 | 29083906-29083917, 29083946-29083965, 29085123-29085143, 29085165-29085171, 29091139-29091160, 29091197-29091203, 29091837-29091844 |
| 277 | MYH9 | 22 | 0.99847016828149 | 9 | 5883 | 36688074-36688079, 36696948-36696950 |
| 278 | TRIOBP | 22 | 0.9742180896027 | 183 | 7098 | 38119846-38119862, 38119879-38119905, 38119976-38120009, 38120038-38120068, 38120140-38120156, 38120176-38120178, 38120196, 38120394-38120440, 38120676, 38129369-38129373 |
| 279 | TNFRSF13C | 22 | 0.97477477477477 | 14 | 555 | 42322258-42322270, 42322272 |
| 280 | CYB5R3 | 22 | 0.98233995584989 | 16 | 906 | 43045306-43045321 |
| 281 | TYMP | 22 | 0.99309868875086 | 10 | 1449 | 50964304, 50964518-50964524, 50964807, 50964811 |
| 282 | ARSA | 22 | 0.99409448818898 | 9 | 1524 | 51063884-51063892 |
| 283 | SHANK3 | 22 | 0.90942028985507 | 475 | 5244 | 51113070-51113132, 51135957-51136143, 51158748-51158772, 51158778-51158821, 51158839-51158847, 51158862-51158900, 51158915-51158935, 51158961-51158994, 51159021-51159023, 51159203, 51169206, 51169429, 51169438-51169441, 51169536-51169540, 51169544, 51169548, 51169571-51169580, 51169586-51169593, 51169601-51169609, 51169661-51169663, 51169670, 51169681-51169684, 51169700 |
| 284 | SUMF1 | 3 | 0.99911111111111 | 1 | 1125 | 4458818 |
| 285 | FANCD2 | 3 | 0.98392210144928 | 71 | 4416 | 10088264-10088311, 10088340-10088346, 10091150-10091156, 10114941-10114949 |
| 286 | BTD | 3 | 0.99938725490196 | 1 | 1632 | 15686590 |
| 287 | RFT1 | 3 | 0.99753997539975 | 4 | 1626 | 53156431, 53156499-53156501 |
| 288 | FLNB | 3 | 0.9998719426303 | 1 | 7809 | 58062877 |
| 289 | ATXN7 | 3 | 0.90345313601128 | 274 | 2838 | 63898275-63898292, 63898296, 63898302-63898322, 63898331-63898341, 63898349-63898426, 63898442-63898576, 63898590-63898599 |
| 290 | GBE1 | 3 | 0.99668089141773 | 7 | 2109 | 81754648-81754650, 81754735-81754738 |
| 291 | PROS1 | 3 | 0.99409158050222 | 12 | 2031 | 93595993, 93596008-93596011, 93598022-93598028 |
| 292 | ARL6 | 3 | 0.99643493761141 | 2 | 561 | 97503816-97503817 |
| 293 | CPOX | 3 | 0.9992673992674 | 1 | 1365 | 98312280 |
| 294 | CASR | 3 | 0.99413036762434 | 19 | 3237 | 122003526-122003544 |
| 295 | NPHP3 | 3 | 0.96669171049336 | 133 | 3993 | 132409380-132409386, 132438549-132438674 |
| 296 | FOXL2 | 3 | 0.98143236074271 | 21 | 1131 | 138664799-138664808, 138664811-138664814, 138664818, 138664868-138664869, 138664872, 138664879-138664880, 138665050 |
| 297 | PLOD2 | 3 | 0.99560825647782 | 10 | 2277 | 145804631, 145804640-145804645, 145804653-145804654, 145804668 |
| 298 | IFT80 | 3 | 0.9909793814433 | 21 | 2328 | 159997134-159997146, 160037558-160037565 |
| 299 | EIF2B5 | 3 | 0.99676823638042 | 7 | 2166 | 183862703-183862709 |
| 300 | ALG3 | 3 | 0.99848139711465 | 2 | 1317 | 183966658-183966659 |
| 301 | OPA1 | 3 | 0.999343832021 | 2 | 3048 | 193355034, 193363392 |
| 302 | IDUA | 4 | 0.99898063200815 | 2 | 1962 | 996655-996656 |
| 303 | SH3BP2 | 4 | 0.99784598815293 | 4 | 1857 | 2820037-2820040 |
| 304 | HTT | 4 | 0.9916215929579 | 79 | 9429 | 3076613-3076665, 3076669, 3076672, 3076675, 3076687, 3076693-3076699, 3213784-3213789, 3213796-3213799, 3215753-3215757 |
| 305 | DOK7 | 4 | 0.98943894389439 | 16 | 1515 | 3465265-3465278, 3494574, 3494577 |
| 306 | DOK7 | 4 | 0.99661590524535 | 2 | 591 | 3494574, 3494577 |
| 307 | PROM1 | 4 | 0.99653579676674 | 9 | 2598 | 15981520-15981527, 16040611 |
| 308 | CNGA1 | 4 | 0.99780701754386 | 5 | 2280 | 47954604, 47954636, 47972955, 47972977, 47973051 |
| 309 | PDGFRA | 4 | 0.99938837920489 | 2 | 3270 | 55156486-55156487 |
| 310 | PKD2 | 4 | 0.99277605779154 | 21 | 2907 | 88928936-88928946, 88929001-88929010 |
| 311 | SNCA | 4 | 0.90780141843972 | 39 | 423 | 90749297-90749335 |
| 312 | MANBA | 4 | 0.99962121212121 | 1 | 2640 | 103611804 |
| 313 | CISD2 | 4 | 0.91176470588235 | 36 | 408 | 103808506-103808522, 103808569-103808587 |
| 314 | CFI | 4 | 0.99828767123288 | 3 | 1752 | 110723080, 110723083, 110723088 |
| 315 | ANK2 | 4 | 0.99949469429005 | 6 | 11874 | 114161706, 114161728, 114213643, 114213648-114213650 |
| 316 | BBS7 | 4 | 0.9683426443203 | 68 | 2148 | 122775859-122775865, 122775875, 122775881, 122775884-122775885, 122775912-122775913, 122775918-122775927, 122775932-122775975, 122782798 |
| 317 | GLRB | 4 | 0.97389558232932 | 39 | 1494 | 158041708-158041746 |
| 318 | GK | 4 | 0.98977135980746 | 17 | 1662 | 166199162-166199168, 166199345, 166199361, 166199563-166199569, 166200324 |
| 319 | SDHA | 5 | 0.88822055137845 | 223 | 1995 | 223682-223683, 224475, 224630-224636, 228319-228325, 228358-228399, 233595, 236673-236681, 251107-251114, 251143-251149, 251173-251218, 251465-251506, 254526-254532, 254571-254612, 256472, 256509 |
| 320 | TERT | 5 | 0.98911444542513 | 37 | 3399 | 1294703, 1295061-1295096 |
| 321 | SDHA | 5 | 0.97859327217125 | 7 | 327 | 1593383-1593389 |
| 322 | DNAH5 | 5 | 0.99747747747748 | 35 | 13875 | 13862739, 13871034-13871047, 13876847-13876858, 13916457-13916464 |
| 323 | NIPBL | 5 | 0.98775995246583 | 103 | 8415 | 37036481-37036489, 37036499-37036500, 37036529, 37036553-37036580, 37048605, 37048610-37048621, 37048626-37048674, 37048688 |
| 324 | LIFR | 5 | 0.99544626593807 | 15 | 3294 | 38482734-38482737, 38482742-38482746, 38490368-38490372, 38506143 |
| 325 | OXCT1 | 5 | 0.99680102367242 | 5 | 1563 | 41862761, 41862768, 41862782, 41862790, 41862850 |
| 326 | GHR | 5 | 0.9942618675013 | 11 | 1917 | 42699978-42699988 |
| 327 | SMN2 | 5 | 0.99774011299435 | 2 | 885 | 69362949, 69372353 |
| 328 | SMN2 | 5 | 0.99887005649718 | 1 | 885 | 70238373 |
| 329 | MCCC2 | 5 | 0.99172576832151 | 14 | 1692 | 70898396-70898409 |
| 330 | AP3B1 | 5 | 0.99543378995434 | 15 | 3285 | 77311336, 77411982, 77563395-77563399, 77563404, 77563413-77563419 |
| 331 | RASA1 | 5 | 0.97137404580153 | 90 | 3144 | 86670043-86670052, 86670058-86670137 |
| 332 | MEF2C | 5 | 0.99226441631505 | 11 | 1422 | 88024377-88024387 |
| 333 | GPR98 | 5 | 0.99825590613604 | 33 | 18921 | 89914993, 89925126-89925130, 89925136, 89949537-89949544, 90020752-90020761, 90041076-90041082, 90049602 |
| 334 | WDR36 | 5 | 0.99439775910364 | 16 | 2856 | 110436360, 110436365-110436376, 110436392, 110448773-110448774 |
| 335 | APC | 5 | 0.99894514767932 | 9 | 8532 | 112128153-112128154, 112128178-112128184 |
| 336 | ALDH7A1 | 5 | 0.99197530864198 | 13 | 1620 | 125891657-125891669 |
| 337 | FBN2 | 5 | 0.99805469733379 | 17 | 8739 | 127702073, 127702078-127702079, 127702085-127702091, 127702098-127702102, 127702111, 127702116 |
| 338 | MYOT | 5 | 0.99665998663995 | 5 | 1497 | 137221748, 137221751-137221754 |
| 339 | MATR3 | 5 | 0.99882075471698 | 3 | 2544 | 138658531, 138658538, 138665061 |
| 340 | DIAPH1 | 5 | 0.99083529719822 | 35 | 3819 | 140953338-140953360, 140953420, 140953451, 140953489, 140953564-140953572 |
| 341 | PDE6A | 5 | 0.99845141308556 | 4 | 2583 | 149240506-149240509 |
| 342 | NSD1 | 5 | 0.99987640588308 | 1 | 8091 | 176618913 |
| 343 | GRM6 | 5 | 0.99772209567198 | 6 | 2634 | 178421912, 178421917, 178421937-178421940 |
| 344 | FLT4 | 5 | 0.99975562072336 | 1 | 4092 | 180076516 |
| 345 | FOXC1 | 6 | 0.98856799037304 | 19 | 1662 | 1611691, 1611702-1611708, 1612018-1612020, 1612024-1612026, 1612053, 1612154-1612157 |
| 346 | TUBB2B | 6 | 0.98430493273543 | 21 | 1338 | 3225406, 3225411, 3225421, 3225437-3225438, 3225441, 3225569-3225583 |
| 347 | DTNBP1 | 6 | 0.99715909090909 | 3 | 1056 | 15663098-15663100 |
| 348 | ATXN1 | 6 | 0.97508169934641 | 61 | 2448 | 16327861-16327870, 16327873-16327876, 16327882, 16327885, 16327888, 16327891, 16327894, 16327897, 16327900-16327930, 16327936-16327945 |
| 349 | HLA-H | 6 | 0.77866666666667 | 166 | 750 | 29856300-29856405, 29856513-29856549, 29856593-29856614, 29856643 |
| 350 | TNXB | 6 | 0.97874546397097 | 41 | 1929 | 31976899, 31976916, 31976926, 31977388-31977394, 31977835-31977841, 31978785, 31978790, 31979422-31979429, 31980129-31980142 |
| 351 | CYP21A2 | 6 | 0.99395161290323 | 9 | 1488 | 32006337, 32007790, 32007846-32007852 |
| 352 | TNXB | 6 | 0.99182968025768 | 104 | 12729 | 32009631-32009664, 32010123-32010129, 32010569-32010575, 32012276-32012283, 32012982-32013029 |
| 353 | HLA-DQA1 | 6 | 0.92708333333333 | 56 | 768 | 32605309, 32609126, 32609169, 32609181, 32609207, 32609212-32609213, 32609216, 32609221-32609222, 32609227-32609228, 32609231-32609237, 32609240-32609241, 32609253-32609255, 32609264, 32609271, 32609278-32609279, 32609286, 32609299, 32609312, 32609749, 32610387-32610406, 32610436-32610437, 32610453, 32610461 |
| 354 | HLA-DQB1 | 6 | 0.78880407124682 | 166 | 786 | 32629129, 32629137, 32629141, 32629155, 32629161, 32629190-32629213, 32629224-32629234, 32629802, 32629847, 32629877-32629878, 32632575-32632654, 32632684-32632703, 32632713-32632718, 32632721, 32632745, 32632757-32632759, 32632769-32632770, 32632775, 32632781-32632783, 32632818, 32634341, 32634350, 32634369, 32634373 |
| 355 | COL11A2 | 6 | 0.99846478602955 | 8 | 5211 | 33140131-33140138 |
| 356 | SYNGAP1 | 6 | 0.93799603174603 | 250 | 4032 | 33388042-33388108, 33393580, 33393602, 33393651-33393654, 33393657-33393680, 33405609, 33410895-33410896, 33411503-33411506, 33411513-33411530, 33411543, 33411545-33411552, 33411557-33411675 |
| 357 | MOCS1 | 6 | 0.99790685504971 | 4 | 1911 | 39874704-39874707 |
| 358 | PRPH2 | 6 | 0.98078770413064 | 20 | 1041 | 42672167-42672186 |
| 359 | PEX6 | 6 | 0.99966021066938 | 1 | 2943 | 42946657 |
| 360 | MUT | 6 | 0.98180204172215 | 41 | 2253 | 49409578-49409585, 49409593-49409597, 49409614-49409619, 49409622-49409629, 49409632-49409633, 49409644-49409645, 49419324, 49419327, 49421370-49421377 |
| 361 | PKHD1 | 6 | 0.999918200409 | 1 | 12225 | 51497381 |
| 362 | EYS | 6 | 0.9963963963964 | 34 | 9435 | 65523320, 65523402-65523428, 65596610-65596611, 65596636, 65596640, 66005888, 66200546 |
| 363 | LMBRD1 | 6 | 0.98521256931608 | 24 | 1623 | 70410727, 70410739, 70410745-70410747, 70410759-70410761, 70462197-70462212 |
| 364 | RIMS1 | 6 | 0.99960622169718 | 2 | 5079 | 73108795-73108796 |
| 365 | LCA5 | 6 | 0.99952244508118 | 1 | 2094 | 80196738 |
| 366 | BCKDHB | 6 | 0.96607294317218 | 40 | 1179 | 80878717-80878730, 80881026-80881049, 80881092-80881093 |
| 367 | SLC35A1 | 6 | 0.98717948717949 | 13 | 1014 | 88218271-88218283 |
| 368 | SEC63 | 6 | 0.99255365746824 | 17 | 2283 | 108224182-108224188, 108224195-108224202, 108243112-108243113 |
| 369 | FIG4 | 6 | 0.9996328928047 | 1 | 2724 | 110081478 |
| 370 | GJA1 | 6 | 0.99390774586597 | 7 | 1149 | 121768922-121768928 |
| 371 | LAMA2 | 6 | 0.99989319662501 | 1 | 9363 | 129635942 |
| 372 | ENPP1 | 6 | 0.99532037437005 | 13 | 2778 | 132171184, 132171187-132171190, 132203511, 132203529-132203531, 132203567, 132203570, 132203574, 132203577 |
| 373 | PEX7 | 6 | 0.95884773662551 | 40 | 972 | 137167219, 137167222-137167225, 137167234-137167249, 137167254-137167270, 137167290, 137167313 |
| 374 | SYNE1 | 6 | 0.99897704023642 | 27 | 26394 | 152545785-152545799, 152716679-152716682, 152716687-152716689, 152737829-152737833 |
| 375 | PARK2 | 6 | 0.99928469241774 | 1 | 1398 | 161969972 |
| 376 | TBP | 6 | 0.95098039215686 | 50 | 1020 | 170871010-170871013, 170871022-170871029, 170871032, 170871040, 170871043, 170871046, 170871049-170871058, 170871067, 170871073-170871086, 170871091, 170871094-170871098, 170871103-170871105 |
| 377 | LFNG | 7 | 0.85614035087719 | 164 | 1140 | 2559496-2559532, 2559549-2559578, 2559595, 2559601-2559648, 2559651, 2559657-2559658, 2559661-2559693, 2559771-2559772, 2559831-2559838, 2559894-2559895 |
| 378 | PMS2 | 7 | 0.97875627655465 | 55 | 2589 | 6013030-6013052, 6013149-6013156, 6017321-6017327, 6026595-6026601, 6027002, 6029452, 6045523-6045529, 6045627 |
| 379 | TWIST1 | 7 | 0.74712643678161 | 154 | 609 | 19156664-19156665, 19156793-19156944 |
| 380 | DNAH11 | 7 | 0.99852637783672 | 20 | 13572 | 21629002, 21630927-21630930, 21939665-21939679 |
| 381 | DFNA5 | 7 | 0.99932930918846 | 1 | 1491 | 24742436 |
| 382 | HOXA13 | 7 | 0.86289631533847 | 160 | 1167 | 27239299-27239328, 27239331, 27239334, 27239340, 27239347-27239352, 27239354-27239357, 27239374-27239426, 27239441-27239450, 27239456-27239458, 27239464, 27239469, 27239473-27239478, 27239522-27239560, 27239693-27239696 |
| 383 | RP9 | 7 | 0.97597597597598 | 16 | 666 | 33134880-33134886, 33135000-33135006, 33148882-33148883 |
| 384 | BBS9 | 7 | 0.98235735735736 | 47 | 2664 | 33303920-33303966 |
| 385 | CCM2 | 7 | 0.97752808988764 | 30 | 1335 | 45039933-45039962 |
| 386 | NCF1 | 7 | 0.88848484848485 | 92 | 825 | 72639957-72639989, 72640033-72640039, 72643704-72643710, 72644230-72644236, 72645924-72645930, 72648669-72648699 |
| 387 | ELN | 7 | 0.99954022988506 | 1 | 2175 | 73442545 |
| 388 | NCF1 | 7 | 0.95566922421142 | 52 | 1173 | 74193639-74193672, 74197388, 74197911-74197917, 74202349-74202355, 74203003-74203005 |
| 389 | POR | 7 | 0.9995105237396 | 1 | 2043 | 75614488 |
| 390 | HGF | 7 | 0.99542752629172 | 10 | 2187 | 81340826-81340832, 81399253-81399255 |
| 391 | AKAP9 | 7 | 0.99590583418628 | 48 | 11724 | 91609603-91609630, 91691755-91691766, 91694594-91694601 |
| 392 | COL1A2 | 7 | 0.99317239697635 | 28 | 4101 | 94049921-94049924, 94049927-94049929, 94050368, 94055310, 94058716-94058733, 94058742 |
| 393 | SGCE | 7 | 0.99410029498525 | 8 | 1356 | 94259141-94259148 |
| 394 | SLC26A5 | 7 | 0.99955257270694 | 1 | 2235 | 103050996 |
| 395 | SLC26A4 | 7 | 0.99914639351259 | 2 | 2343 | 107344776-107344777 |
| 396 | IFRD1 | 7 | 0.99188790560472 | 11 | 1356 | 112102336-112102346 |
| 397 | CFTR | 7 | 0.96488858879136 | 156 | 4443 | 117188713-117188753, 117188760-117188800, 117188842-117188853, 117188874-117188877, 117235014-117235024, 117235040-117235048, 117235056, 117235070-117235098, 117235105-117235112 |
| 398 | AASS | 7 | 0.99892125134844 | 3 | 2781 | 121769511, 121769531, 121769572 |
| 399 | IMPDH1 | 7 | 0.99166666666667 | 15 | 1800 | 128049884-128049891, 128049903-128049909 |
| 400 | FLNC | 7 | 0.99914404499878 | 7 | 8178 | 128498187-128498193 |
| 401 | ATP6V0A4 | 7 | 0.98573127229489 | 36 | 2523 | 138394407-138394431, 138394438-138394444, 138394453-138394456 |
| 402 | BRAF | 7 | 0.9986962190352 | 3 | 2301 | 140624406-140624408 |
| 403 | PRSS1 | 7 | 0.84543010752688 | 115 | 744 | 142458415-142458454, 142459625-142459629, 142459664-142459682, 142459863-142459878, 142460313, 142460335, 142460339, 142460366-142460397 |
| 404 | CNTNAP2 | 7 | 0.995995995996 | 16 | 3996 | 145813982-145813997 |
| 405 | KCNH2 | 7 | 0.98879310344828 | 39 | 3480 | 150644732-150644735, 150644746, 150644749, 150644799, 150648901-150648907, 150648920-150648923, 150671861-150671864, 150671885, 150671889, 150671966-150671969, 150671978, 150671982, 150674993-150675001 |
| 406 | SHH | 7 | 0.99496040316775 | 7 | 1389 | 155595778-155595781, 155595793, 155595799, 155595804 |
| 407 | MNX1 | 7 | 0.88308457711443 | 141 | 1206 | 156799286, 156799289-156799291, 156802654-156802757, 156802779-156802782, 156802824-156802825, 156802844, 156802851, 156802878-156802880, 156802896-156802908, 156802911-156802919 |
| 408 | ASAH1 | 8 | 0.99915824915825 | 1 | 1188 | 17928811 |
| 409 | ANK1 | 8 | 0.99771689497717 | 13 | 5694 | 41561583-41561595 |
| 410 | TMEM67 | 8 | 0.99431057563588 | 17 | 2988 | 94777826-94777835, 94827556-94827562 |
| 411 | VPS13B | 8 | 0.99674837418709 | 39 | 11994 | 100123372-100123377, 100123388-100123390, 100123424-100123430, 100123433, 100123440-100123455, 100123466, 100123488-100123491, 100514010 |
| 412 | GRHL2 | 8 | 0.99946751863685 | 1 | 1878 | 102589637 |
| 413 | TRPS1 | 8 | 0.9953667953668 | 18 | 3885 | 116599347-116599364 |
| 414 | KCNQ3 | 8 | 0.99961817487591 | 1 | 2619 | 133492766 |
| 415 | TG | 8 | 0.99987961959793 | 1 | 8307 | 133882071 |
| 416 | CYP11B1 | 8 | 0.96494708994709 | 53 | 1512 | 143958512-143958533, 143958572-143958602 |
| 417 | CYP11B2 | 8 | 0.96097883597884 | 59 | 1512 | 143993954-143993994, 143994026-143994032, 143994069-143994075, 143994702, 143994724, 143996539, 143996553 |
| 418 | PLEC | 8 | 0.99551760939168 | 63 | 14055 | 144995066-144995067, 144996248-144996253, 144996260, 144996519-144996546, 144997450-144997453, 144998918-144998922, 145009081-145009097 |
| 419 | GPT | 8 | 0.98591549295775 | 21 | 1491 | 145731245-145731265 |
| 420 | KCNV2 | 9 | 0.997557997558 | 4 | 1638 | 2718398, 2718993-2718995 |
| 421 | GLIS3 | 9 | 0.99928392409595 | 2 | 2793 | 4118026-4118027 |
| 422 | JAK2 | 9 | 0.98587819947043 | 48 | 3399 | 5069931, 5077484-5077530 |
| 423 | FANCG | 9 | 0.99785981808454 | 4 | 1869 | 35079180-35079183 |
| 424 | TRPM6 | 9 | 0.99967045641786 | 2 | 6069 | 77473585-77473586 |
| 425 | VPS13A | 9 | 0.9896062992126 | 99 | 9525 | 79820233-79820258, 79824362-79824370, 79896791-79896827, 79897155, 79897175-79897180, 79897187-79897190, 79908419-79908424, 79931185-79931190, 79931198-79931199, 79932604, 79946964 |
| 426 | ROR2 | 9 | 0.99964689265537 | 1 | 2832 | 94486022 |
| 427 | PTCH1 | 9 | 0.99447513812155 | 24 | 4344 | 98270589-98270612 |
| 428 | FOXE1 | 9 | 0.97593582887701 | 27 | 1122 | 100616701-100616727 |
| 429 | TGFBR1 | 9 | 0.99404761904762 | 9 | 1512 | 101867538-101867540, 101867549-101867554 |
| 430 | INVS | 9 | 0.99562226391495 | 14 | 3198 | 103054901-103054914 |
| 431 | SETX | 9 | 0.99987552900174 | 1 | 8034 | 135202236 |
| 432 | TSC1 | 9 | 0.99914163090129 | 3 | 3495 | 135771988-135771990 |
| 433 | CEL | 9 | 0.83971818582122 | 364 | 2271 | 135944521-135944527, 135944583-135944589, 135945994-135946018, 135946387-135946393, 135946650-135946967 |
| 434 | ADAMTS13 | 9 | 0.99766573295985 | 10 | 4284 | 136293843-136293845, 136293851, 136293862, 136308654-136308658 |
| 435 | DBH | 9 | 0.99784250269687 | 4 | 1854 | 136523489, 136523500-136523502 |
| 436 | COL5A1 | 9 | 0.99963748413993 | 2 | 5517 | 137534085, 137534094 |
| 437 | LHX3 | 9 | 0.97849462365591 | 26 | 1209 | 139090897-139090905, 139094863-139094866, 139094873-139094885 |
| 438 | INPP5E | 9 | 0.99948320413437 | 1 | 1935 | 139333633 |
| 439 | NOTCH1 | 9 | 0.99947835159103 | 4 | 7668 | 139391562-139391564, 139391569 |
| 440 | AGPAT2 | 9 | 0.94026284348865 | 50 | 837 | 139581741-139581790 |
| 441 | SLC34A3 | 9 | 0.98888888888889 | 20 | 1800 | 140128317-140128336 |
| 442 | EHMT1 | 9 | 0.99948678470618 | 2 | 3897 | 140605431-140605432 |
| 443 | KAL1 | X | 0.99657366617719 | 7 | 2043 | 8538540-8538546 |
| 444 | GPR143 | X | 0.99294117647059 | 9 | 1275 | 9733635-9733643 |
| 445 | FANCB | X | 0.99922480620155 | 2 | 2580 | 14877390-14877391 |
| 446 | SMS | X | 0.99909173478656 | 1 | 1101 | 21958988 |
| 447 | ARX | X | 0.96743635287152 | 55 | 1689 | 25031285-25031286, 25031291, 25031468-25031476, 25031499, 25031654-25031667, 25031671-25031675, 25031678-25031679, 25031713-25031716, 25031777-25031785, 25031792-25031799 |
| 448 | GK | X | 0.99157641395909 | 14 | 1662 | 30745614-30745627 |
| 449 | DMD | X | 0.99990956773377 | 1 | 11058 | 32472791 |
| 450 | RPGR | X | 0.88753975137323 | 389 | 3459 | 38145330-38145366, 38145373-38145392, 38145409-38145489, 38145497-38145679, 38145688-38145755 |
| 451 | NYX | X | 0.98478561549101 | 22 | 1446 | 41333238, 41333241-41333246, 41333256-41333259, 41333263-41333268, 41333514-41333515, 41333524-41333525, 41333927 |
| 452 | SYN1 | X | 0.99763928234183 | 5 | 2118 | 47433707-47433710, 47436855 |
| 453 | CFP | X | 0.99574468085106 | 6 | 1410 | 47488932, 47488992-47488996 |
| 454 | WAS | X | 0.97945659377071 | 31 | 1509 | 48547113, 48547201-48547211, 48547214, 48547234-48547244, 48547261-48547267 |
| 455 | CACNA1F | X | 0.99882035726323 | 7 | 5934 | 49061602-49061607, 49061614 |
| 456 | FGD1 | X | 0.999306999307 | 2 | 2886 | 54497144-54497145 |
| 457 | ARHGEF9 | X | 0.99742101869761 | 4 | 1551 | 62857917-62857920 |
| 458 | AR | X | 0.97647484618169 | 65 | 2763 | 66765162-66765205, 66766364-66766365, 66766371-66766389 |
| 459 | MED12 | X | 0.99403122130395 | 39 | 6534 | 70338605-70338617, 70338636-70338645, 70344032-70344033, 70360653-70360656, 70360680-70360685, 70361109-70361111, 70361197 |
| 460 | TAF1 | X | 0.98416050686378 | 90 | 5682 | 70586165-70586248, 70586250, 70586255-70586257, 70586259, 70586324 |
| 461 | BRWD3 | X | 0.99648733592161 | 19 | 5409 | 80064952-80064970 |
| 462 | SRPX2 | X | 0.99928469241774 | 1 | 1398 | 99922347 |
| 463 | ACSL4 | X | 0.99812734082397 | 4 | 2136 | 108917670-108917673 |
| 464 | LAMP2 | X | 0.99919093851133 | 1 | 1236 | 119590573 |
| 465 | SLC9A6 | X | 0.99952516619183 | 1 | 2106 | 135104781 |
| 466 | ZIC3 | X | 0.99643874643875 | 5 | 1404 | 136648985-136648987, 136651118, 136651135 |
| 467 | SOX3 | X | 0.99403430275913 | 8 | 1341 | 139585969-139585970, 139585987-139585988, 139585995-139585998 |
| 468 | SLC6A8 | X | 0.86897274633124 | 250 | 1908 | 152954030, 152954088-152954190, 152954201-152954204, 152954226-152954251, 152956759-152956772, 152957463-152957478, 152958538-152958546, 152959470-152959472, 152959687-152959704, 152959799-152959846, 152960210, 152960547-152960553 |
| 469 | ABCD1 | X | 0.91152815013405 | 198 | 2238 | 153008473-153008487, 153008675-153008688, 153008705-153008734, 153008756-153008791, 153008981-153008987, 153009014-153009033, 153009059-153009089, 153009111-153009155 |
| 470 | AVPR2 | X | 0.99462365591398 | 6 | 1116 | 153172049, 153172062-153172066 |
| 471 | MECP2 | X | 0.95591182364729 | 66 | 1497 | 153296184-153296187, 153363061-153363122 |
| 472 | OPN1LW | X | 0.97625570776256 | 26 | 1095 | 153421799-153421824 |
| 473 | OPN1MW | X | 0.90228310502283 | 107 | 1095 | 153453337-153453343, 153453446, 153455583-153455601, 153457286-153457309, 153458929-153458954, 153458966-153458970, 153458976-153458985, 153458994-153458997, 153459039-153459049 |
| 474 | OPN1MW | X | 0.85022831050228 | 164 | 1095 | 153490455-153490461, 153492701-153492719, 153494404-153494427, 153496047-153496072, 153496082-153496124, 153496157-153496201 |
| 475 | IKBKG | X | 0.9918200408998 | 4 | 489 | 153868359-153868362 |
| Effect rank | Variant | Phase/ Zygosity | Allele freq | Impact | Evaluation | Summary / Info |
|---|---|---|---|---|---|---|
| 4 | C3-P314L | het unknown | 0.146 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: 0.159 (benign), Testable gene in GeneTests with associated GeneReview |
| 4 | C3-R102G | homozygous | 0.152 | Complex/Other pathogenic | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: 0.044 (benign), Testable gene in GeneTests with associated GeneReview |
| 3 | COL4A1-Q1334H | het unknown | 0.325 | Dominant pathogenic | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: 0.16 (benign), Testable gene in GeneTests with associated GeneReview |
| 3 | COL4A1-T555P | homozygous | 1.000 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 3 | COL4A1-V7L | het unknown | 0.291 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 3 | MTRR-I49M | homozygous | 0.451 | Recessive pathogenic | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 3 | MTRR-S202L | het unknown | 0.328 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 2 | TP53-P72R | homozygous | 0.628 | Unknown pathogenic | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: 0.127 (benign), Testable gene in GeneTests with associated GeneReview |
| 2 | APOB-S4338N | homozygous | 0.802 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests |
| 2 | APOB-I2313V | homozygous | 0.981 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests |
| 2 | APOB-Y1422C | homozygous | 1.000 | Unknown benign | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests |
| 2 | APOB-T98I | homozygous | 0.247 | Unknown pharmacogenetic | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests |
| 2 | PCSK9-A53V | het unknown | 0.096 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests |
| 2 | PCSK9-G670E | homozygous | 0.888 | Unknown benign | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests |
| 2 | DPYD-M166V | het unknown | 0.078 | Unknown pharmacogenetic | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: 0.998 (probably damaging), Testable gene in GeneTests |
| 2 | DPYD-R29C | het unknown | 0.714 | Complex/Other pharmacogenetic | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests |
| 2 | SP110-L425S | homozygous | 0.863 | Unknown pathogenic | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 2 | SP110-G299R | homozygous | 0.701 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 2 | SP110-W112R | homozygous | 0.917 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 1.5 | TLR4-D299G | het unknown | 0.065 | Unknown pathogenic | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: 0.006 (benign) |
| 1.5 | TLR4-T399I | het unknown | 0.047 | Unknown pathogenic | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: 0.016 (benign) |
| 1.5 | CETP-A390P | het unknown | 0.039 | Unknown pathogenic | Insufficiently evaluated | Prioritization score: 4 Polyphen 2: 0.992 (probably damaging), Testable gene in GeneTests |
| 1.5 | CETP-V422I | het unknown | 0.589 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests |
| 1.5 | CETP-R468Q | het unknown | 0.029 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: 0.009 (benign), Testable gene in GeneTests |
| 1.125 | SERPINA1-R247C | het unknown | 0.003 | Recessive pathogenic | Insufficiently evaluated | Prioritization score: 4 Polyphen 2: 0.948 (probably damaging), Testable gene in GeneTests with associated GeneReview |
| 1.125 | SERPINA1-V237A | het unknown | 0.327 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 1.125 | ATP6V0A4-M580T | het unknown | 0.098 | Recessive pathogenic | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests |
| 1.125 | ATP6V0A4-V2A | homozygous | 0.735 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests |
| 1 | HADHB-T2TT | homozygous | 0.008 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests |
| 1 | ZNF761-L47Shift | homozygous | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Frameshift | |
| 1 | ZNF761-I122S | homozygous | 0.686 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 1 | ZNF761-V168I | homozygous | 0.770 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 1 | ZNF761-H373R | het unknown | Unknown | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: Unknown | |
| 1 | MZT2A-R136H | homozygous | 0.195 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: 0.999 (probably damaging) |
| 1 | MZT2A-H127R | homozygous | 0.199 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 1 | MZT2A-S12Shift | homozygous | Unknown | Insufficiently evaluated | Prioritization score: 2 Frameshift | |
| 1 | ZNF480-C3Shift | homozygous | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Frameshift | |
| 1 | ZNF880-N106Shift | homozygous | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Frameshift | |
| 1 | ZNF880-N140NN | homozygous | Unknown | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: Unknown | |
| 1 | ZNF880-R198S | homozygous | 0.358 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 1 | ZNF880-N202H | homozygous | 0.357 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 1 | ZNF880-R313Q | het unknown | Unknown | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: Unknown | |
| 1 | ZNF880-K316R | het unknown | Unknown | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: Unknown | |
| 1 | ZNF880-S319T | het unknown | Unknown | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: Unknown | |
| 1 | ZNF880-K471R | homozygous | 0.381 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 1 | HSH2D-S223Shift | homozygous | 0.016 | Unknown not reviewed | 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 | COMP-N386D | het unknown | 0.036 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 4 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 1 | NPHS1-N1077S | het unknown | 0.106 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: 0.993 (probably damaging), Testable gene in GeneTests |
| 1 | NPHS1-R408Q | het unknown | 0.045 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 4 Polyphen 2: 1.0 (probably damaging), Testable gene in GeneTests |
| 1 | VSIG10L-Q860Shift | homozygous | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Frameshift | |
| 1 | VSIG10L-R592Q | homozygous | 0.563 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 1 | VSIG10L-M356I | homozygous | 0.562 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 1 | VSIG10L-N3T | homozygous | 0.605 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 1 | SIX5-P635S | homozygous | 0.401 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 4 Polyphen 2: 0.891 (probably damaging), Testable gene in GeneTests with associated GeneReview |
| 1 | SIX5-L556V | homozygous | 0.871 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 1 | APOE-R176C | het unknown | 0.068 | Complex/Other pharmacogenetic | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: 1.0 (probably damaging), Testable gene in GeneTests |
| 1 | COL18A1-PGP1362Del | homozygous | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests | |
| 1 | FERMT1-R526K | homozygous | 0.073 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests |
| 1 | FERMT1-R255C | homozygous | 0.064 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 1.0 (probably damaging), Testable gene in GeneTests |
| 1 | FERMT1-I160T | homozygous | 0.106 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: 0.004 (benign), Testable gene in GeneTests |
| 1 | IL7R-I66T | homozygous | 0.699 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests |
| 1 | IL7R-V138I | homozygous | 0.745 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests |
| 1 | IL7R-T244I | het unknown | 0.210 | Unknown protective | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests |
| 1 | AX746903-T82Shift | homozygous | Unknown | Insufficiently evaluated | Prioritization score: 2 Frameshift | |
| 1 | AX746964-G175Shift | homozygous | 0.034 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Frameshift |
| 1 | AX746964-K166I | homozygous | 0.628 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 1 | GABRG2-I215V | homozygous | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests | |
| 1 | EGFR-R521K | homozygous | 0.203 | Unknown pharmacogenetic | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests |
| 1 | SYNE1-G8323A | het unknown | 0.376 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.003 (benign), Testable gene in GeneTests with associated GeneReview |
| 1 | SYNE1-F7302V | homozygous | 0.993 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 1 | SYNE1-D4148H | het unknown | 0.025 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 4 Polyphen 2: 0.998 (probably damaging), Testable gene in GeneTests with associated GeneReview |
| 1 | SYNE1-A2795V | het unknown | 0.195 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.001 (benign), Testable gene in GeneTests with associated GeneReview |
| 1 | SYNE1-V1035A | homozygous | 0.534 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.673 (possibly damaging), Testable gene in GeneTests with associated GeneReview |
| 1 | SYNE1-R843C | het unknown | 0.021 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: 0.25 (possibly damaging), Testable gene in GeneTests with associated GeneReview |
| 1 | TNXB-W458C | homozygous | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview | |
| 1 | TNXB-R48P | homozygous | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview | |
| 1 | CASR-R990G | het unknown | 0.064 | Unknown pharmacogenetic | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: 0.939 (probably damaging), Testable gene in GeneTests |
| 1 | CASR-E1011Q | homozygous | 0.916 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests |
| 1 | NR_015394-G45W | homozygous | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: Unknown | |
| 1 | NR_015394-F74S | homozygous | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: Unknown | |
| 1 | NR_015394-T113Shift | homozygous | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Frameshift | |
| 1 | ARSA-R496H | het unknown | 0.055 | Unknown benign | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 1 | ARSA-T391S | homozygous | 0.481 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 1 | ARSA-N350S | het unknown | 0.183 | Unknown benign | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: 0.012 (benign), Testable gene in GeneTests with associated GeneReview |
| 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 | KRTAP7-1-Y17Shift | homozygous | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Frameshift | |
| 1 | COLQ-S245Shift | het unknown | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 4 Frameshift, Testable gene in GeneTests with associated GeneReview | |
| 1 | ZNF167-N494Shift | homozygous | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Frameshift | |
| 1 | GBE1-I334V | homozygous | 0.980 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 1 | GBE1-I59T | het unknown | 0.007 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 4 Polyphen 2: 0.861 (probably damaging), Testable gene in GeneTests with associated GeneReview |
| 1 | ATXN7-K264R | het unknown | 0.099 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 4 Polyphen 2: 0.949 (probably damaging), Testable gene in GeneTests with associated GeneReview |
| 1 | ATXN7-V862M | het unknown | 0.394 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 1 | CCDC66-D5Shift | homozygous | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Frameshift | |
| 1 | CCDC66-Q383R | homozygous | 0.955 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 1 | CCDC66-R460Q | het unknown | 0.402 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: 0.999 (probably damaging) |
| 1 | CCDC66-E592K | het unknown | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: 0.006 (benign) | |
| 1 | CCDC66-S606SS | het unknown | Unknown | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: Unknown | |
| 1 | NPC1-I858V | het unknown | 0.445 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: 0.061 (benign), Testable gene in GeneTests with associated GeneReview |
| 1 | NPC1-M642I | het unknown | 0.738 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 1 | NPC1-H215R | het unknown | 0.296 | Complex/Other protective | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 1 | GRIN3B-R404W | homozygous | 0.480 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: 0.976 (probably damaging) |
| 1 | GRIN3B-W414R | homozygous | 0.737 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 1 | GRIN3B-G466Shift | homozygous | 0.023 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Frameshift |
| 1 | GRIN3B-T577M | homozygous | 0.434 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: 0.001 (benign) |
| 1 | GRIN3B-A832E | het unknown | 0.011 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: 0.009 (benign) |
| 1 | GRIN3B-Y966N | homozygous | 0.337 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 1 | GRIN3B-Q1006E | homozygous | 0.680 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: 0.051 (benign) |
| 1 | GRIN3B-APAEAPPHS1028Del | homozygous | Unknown | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: Unknown | |
| 1 | B3GNT6-L316Shift | homozygous | Unknown | Insufficiently evaluated | Prioritization score: 2 Frameshift | |
| 1 | B3GNT6-L335Shift | homozygous | Unknown | Insufficiently evaluated | Prioritization score: 2 Frameshift | |
| 1 | LRP5-A1330V | het unknown | 0.110 | Complex/Other pathogenic | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 1 | TRIM64-R154Q | het unknown | Unknown | 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 | VWF-G2705R | homozygous | 0.046 | Unknown benign | Insufficiently evaluated | Prioritization score: 5 Polyphen 2: 0.992 (probably damaging), Testable gene in GeneTests with associated GeneReview |
| 1 | VWF-A2178S | het unknown | 0.016 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 4 Polyphen 2: 0.381 (possibly damaging), Testable gene in GeneTests with associated GeneReview |
| 1 | VWF-T1381A | het unknown | 0.712 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 1 | VWF-R924Q | het unknown | 0.015 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 4 Polyphen 2: 0.992 (probably damaging), Testable gene in GeneTests with associated GeneReview |
| 1 | VWF-Q852R | homozygous | 0.924 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 1 | VWF-T789A | het unknown | 0.431 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: 0.004 (benign), Testable gene in GeneTests with associated GeneReview |
| 1 | VWF-H484R | het unknown | 0.503 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: 0.83 (possibly damaging), Testable gene in GeneTests with associated GeneReview |
| 1 | VDR-M1T | homozygous | 0.676 | Unknown pharmacogenetic | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: 0.999 (probably damaging), Testable gene in GeneTests |
| 1 | SLCO1A2-E172D | het unknown | 0.042 | Unknown pharmacogenetic | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: 0.997 (probably damaging) |
| 1 | CLECL1-S52Shift | homozygous | 0.008 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Frameshift |
| 1 | MS4A14-I56Shift | homozygous | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Frameshift | |
| 1 | MS4A14-N177Y | het unknown | 0.640 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: 0.981 (probably damaging) |
| 1 | MS4A14-G584R | het unknown | 0.574 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: 0.003 (benign) |
| 1 | MS4A14-Q612H | het unknown | 0.025 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.952 (probably damaging) |
| 1 | ARMS2-A69S | het unknown | 0.207 | Unknown pathogenic | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests |
| 1 | RHD-I60L | homozygous | Unknown | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: Unknown | |
| 1 | RHD-S68N | homozygous | Unknown | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: Unknown | |
| 1 | RHD-S103P | homozygous | 0.070 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 1 | RHD-N152T | homozygous | 0.009 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: Unknown |
| 1 | RHD-K198N | het unknown | Unknown | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: Unknown | |
| 1 | RHD-T201R | het unknown | 0.018 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: 0.001 (benign) |
| 1 | RHD-V245L | homozygous | 0.000 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: Unknown |
| 1 | RHD-G263R | homozygous | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: 0.021 (benign) | |
| 1 | RHD-K267M | homozygous | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown | |
| 1 | RHD-V306I | homozygous | Unknown | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: Unknown | |
| 1 | RHD-Y311C | homozygous | Unknown | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: Unknown | |
| 1 | RHD-G314V | homozygous | Unknown | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: Unknown | |
| 1 | RHD-P323H | homozygous | Unknown | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: Unknown | |
| 1 | RHD-S325I | homozygous | Unknown | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: Unknown | |
| 1 | RHD-I327V | homozygous | Unknown | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: Unknown | |
| 1 | RHD-G329H | homozygous | Unknown | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: Unknown | |
| 1 | RHD-Y330S | homozygous | Unknown | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: Unknown | |
| 1 | RHD-N331I | homozygous | Unknown | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: Unknown | |
| 1 | RHD-GA353WN | homozygous | Unknown | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: Unknown | |
| 1 | RHD-M379T | homozygous | 0.055 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: Unknown |
| 1 | RHD-E398V | homozygous | Unknown | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: Unknown | |
| 1 | PADI6-V343Shift | homozygous | 0.016 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Frameshift |
| 1 | HRNR-L2688S | het unknown | 0.197 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 1 | HRNR-S799T | homozygous | 0.725 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 1 | HRNR-D668C | het unknown | 0.057 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 1 | HRNR-R664Q | het unknown | 0.748 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 1 | HRNR-G492E | het unknown | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: Unknown | |
| 1 | HRNR-G427D | homozygous | 0.480 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 1 | HRNR-Q376R | homozygous | 0.950 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 1 | HRNR-H273Q | homozygous | 0.481 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 1 | HRNR-R85H | homozygous | 0.726 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: 0.078 (benign) |
| 1 | HRNR-M1Shift | homozygous | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Frameshift | |
| 1 | F5-M1764V | het unknown | 0.291 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 1 | F5-K925E | het unknown | 0.244 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 1 | F5-H865R | het unknown | 0.244 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 1 | F5-K858R | het unknown | 0.244 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 1 | F5-Q534R | homozygous | 0.978 | Unknown pharmacogenetic | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 1 | F5-D107H | het unknown | 0.157 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 1 | ERCC6-R1230P | het unknown | 0.070 | Unknown benign | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: 0.891 (probably damaging), Testable gene in GeneTests with associated GeneReview |
| 1 | ERCC6-G446D | het unknown | 0.009 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 4 Polyphen 2: 0.205 (possibly damaging), Testable gene in GeneTests with associated GeneReview |
| 1 | ERCC6-G399D | het unknown | 0.161 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 1 | USH2A-E3411A | het unknown | 0.573 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 1 | USH2A-N3199D | het unknown | 0.054 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 1 | USH2A-T3115A | het unknown | 0.032 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.003 (benign), Testable gene in GeneTests with associated GeneReview |
| 1 | USH2A-L2886F | het unknown | 0.048 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 4 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 1 | USH2A-I2169T | het unknown | 0.481 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 1 | USH2A-R1486K | homozygous | 0.607 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: 0.063 (benign), Testable gene in GeneTests with associated GeneReview |
| 1 | USH2A-A125T | het unknown | 0.719 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 1 | CHIT1-V357V* | homozygous | 0.016 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Nonsense mutation, Testable gene in GeneTests |
| 1 | CHIT1-G102S | het unknown | 0.281 | Unknown pathogenic | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.057 (benign), Testable gene in GeneTests |
| 1 | KRT4-G160GAGGFGAGFGTGGFG | homozygous | 0.008 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests |
| 1 | BRCA2-F1866Shift | het unknown | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 4 Frameshift, Testable gene in GeneTests with associated GeneReview | |
| 1 | BRCA2-S2186T | het unknown | Unknown | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview | |
| 1 | BRCA2-V2466A | homozygous | 0.977 | Dominant benign | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 1 | ELAC2-P808A | het unknown | 0.062 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: 0.615 (possibly damaging), Testable gene in GeneTests |
| 1 | ELAC2-S217L | het unknown | 0.273 | Complex/Other pathogenic | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.025 (benign), Testable gene in GeneTests |
| 1 | PIK3R6-L609Shift | homozygous | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Frameshift | |
| 1 | C17orf103-C16Shift | homozygous | Unknown | Insufficiently evaluated | Prioritization score: 2 Frameshift | |
| 1 | SEBOX-L207S | homozygous | 0.839 | 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 | ATP8B1-A1152T | homozygous | 0.999 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 1 | ATP8B1-R952Q | het unknown | 0.083 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 4 Polyphen 2: 0.999 (probably damaging), Testable gene in GeneTests with associated GeneReview |
| 1 | MLXIPL-A358V | homozygous | 0.086 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: 0.345 (possibly damaging) |
| 1 | MLXIPL-Q241H | homozygous | 0.093 | Unknown pharmacogenetic | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: 0.697 (possibly damaging) |
| 1 | FASN-V1483I | homozygous | 0.038 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown |
| 1 | CYBA-Y72H | homozygous | 0.620 | Unknown pharmacogenetic | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests |
| 1 | ZFPM1-R22G | homozygous | 0.487 | 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 | C14orf184-E123Shift | homozygous | Unknown | Insufficiently evaluated | Prioritization score: 2 Frameshift | |
| 1 | GPHB5-F53Shift | homozygous | 0.016 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Frameshift |
| 1 | C14orf104-D768G | homozygous | Unknown | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview | |
| 1 | C14orf104-E62D | homozygous | Unknown | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview | |
| 1 | ZFYVE19-R48Shift | homozygous | 0.008 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Frameshift |
| 1 | ZFYVE19-S376A | homozygous | 0.752 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: 0.001 (benign) |
| 1 | NPRL3-L489Shift | homozygous | 0.048 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Frameshift |
| 1 | ABCC11-A317E | het unknown | 0.144 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 1 | ABCC11-G180R | het unknown | 0.098 | Unknown benign | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: 0.992 (probably damaging) |
| 1 | ABCC11-R19H | het unknown | 0.128 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 1 | ZNF598-C725S | het unknown | 0.177 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 1 | ZNF598-M637T | het unknown | 0.642 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 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 | ZNF598-G6Shift | homozygous | Unknown | Insufficiently evaluated | Prioritization score: 2 Frameshift | |
| 1 | NR_027242-C222Shift | homozygous | Unknown | Insufficiently evaluated | Prioritization score: 2 Frameshift | |
| 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 | ETFB-P52L | homozygous | 0.061 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests |
| 1 | ETFB-W6WLW | het unknown | 0.070 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: Unknown, Testable gene in GeneTests |
| 1 | TCEAL6-Q175Shift | homozygous | 0.022 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Frameshift |
| 1 | AK094914-K152N | homozygous | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: Unknown | |
| 1 | AK094914-T33Shift | homozygous | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Frameshift | |
| 1 | AK094914-M25Shift | het unknown | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Frameshift | |
| 1 | AK094914-C20Shift | het unknown | Unknown | Insufficiently evaluated | Prioritization score: 2 Frameshift | |
| 1 | AK094914-C16Shift | het unknown | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Frameshift | |
| 1 | AK094914-A13Shift | het unknown | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Frameshift | |
| 1 | KCP-G1196S | het unknown | Unknown | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: Unknown | |
| 1 | KCP-H313Shift | homozygous | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Frameshift | |
| 1 | KCP-A16Shift | homozygous | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Frameshift | |
| 1 | HCCS-A72V | het unknown | Dominant not reviewed | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview | |
| 1 | DGKK-L1014Shift | homozygous | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Frameshift | |
| 1 | TOR1A-D216H | het unknown | 0.103 | Unknown protective | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: 0.205 (possibly damaging), Testable gene in GeneTests with associated GeneReview |
| 1 | ATG9B-A765Shift | homozygous | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Frameshift | |
| 1 | ATG9B-R141W | het unknown | 0.023 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: Unknown |
| 1 | PLEKHA2-P389Shift | homozygous | 0.032 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Frameshift |
| 1 | GATSL1-N17K | homozygous | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown | |
| 1 | NEFL-S472Shift | homozygous | Unknown benign | Insufficiently evaluated | Prioritization score: 4 Frameshift, Testable gene in GeneTests with associated GeneReview | |
| 1 | AX747124-C9Y | homozygous | 0.977 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 1 | AX747124-C51Shift | homozygous | 0.039 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Frameshift |
| 1 | GSN-A129T | het unknown | 0.015 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 4 Polyphen 2: 0.992 (probably damaging), Testable gene in GeneTests |
| 1 | TTF1-G360V | het unknown | 0.048 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 4 Polyphen 2: 0.988 (probably damaging), Testable gene in GeneTests |
| 1 | FAM58A-Q15Shift | homozygous | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 3 Frameshift, Testable gene in GeneTests | |
| 1 | FAM58A-G4Shift | homozygous | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 3 Frameshift, Testable gene in GeneTests | |
| 0.75 | ANKK1-A239T | het unknown | 0.228 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: 0.852 (probably damaging) |
| 0.75 | ANKK1-G442R | het unknown | 0.626 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 0.75 | ANKK1-E713K | het unknown | 0.237 | Unknown pathogenic | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 0.75 | COMT-V158M | het unknown | 0.448 | Unknown pathogenic | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 0.75 | AURKA-I57V | homozygous | 0.836 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 0.75 | AURKA-F31I | het unknown | 0.188 | Unknown pathogenic | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 0.75 | CHRNA5-D398N | het unknown | 0.249 | Unknown pathogenic | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: 0.003 (benign) |
| 0.5 | VPS13D-Q153H | het unknown | 0.001 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.993 (probably damaging) |
| 0.5 | VPS13D-E1505V | het unknown | 0.166 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: 0.021 (benign) |
| 0.5 | AIPL1-D90H | homozygous | 0.165 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: 0.029 (benign), Testable gene in GeneTests with associated GeneReview |
| 0.5 | CTNS-T260I | homozygous | 0.828 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | SPG7-T503A | het unknown | 0.142 | Unknown pharmacogenetic | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: 0.001 (benign), Testable gene in GeneTests with associated GeneReview |
| 0.5 | SPG7-R688Q | het unknown | 0.142 | Recessive pharmacogenetic | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: 0.203 (possibly damaging), Testable gene in GeneTests with associated GeneReview |
| 0.5 | PTCH1-P1315L | het unknown | 0.296 | Unknown benign | Insufficiently evaluated | Prioritization score: 4 Polyphen 2: 0.999 (probably damaging), Testable gene in GeneTests with associated GeneReview |
| 0.5 | PTCH1-T1195S | het unknown | 0.041 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: 0.063 (benign), Testable gene in GeneTests with associated GeneReview |
| 0.5 | PHF2-G758Shift | het unknown | 0.008 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Frameshift |
| 0.5 | PHF2-T996TTPAST | het unknown | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: Unknown | |
| 0.5 | GPR56-S281R | homozygous | 0.609 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | GPR56-Q306H | het unknown | 0.207 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | GPR56-M487T | het unknown | 0.024 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | TK2-P33A | het unknown | 0.034 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests |
| 0.5 | TK2-K30R | het unknown | 0.237 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests |
| 0.5 | HP-D70N | het unknown | 0.008 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests |
| 0.5 | HP-K71E | het unknown | 0.008 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: 0.001 (benign), Testable gene in GeneTests |
| 0.5 | GCSH-S21L | homozygous | 0.751 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | CCDC42-A144T | het unknown | 0.030 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown |
| 0.5 | MYO19-N176S | het unknown | 0.037 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: 0.999 (probably damaging) |
| 0.5 | DNAI1-A8S | het unknown | 0.048 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: 0.001 (benign), Testable gene in GeneTests with associated GeneReview |
| 0.5 | MAP2K3-P40T | het unknown | 0.500 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: 0.968 (probably damaging) |
| 0.5 | MAP2K3-R55T | het unknown | 0.500 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 0.5 | MAP2K3-S68P | het unknown | 0.500 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: 0.029 (benign) |
| 0.5 | MAP2K3-R94L | het unknown | 0.500 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: 0.992 (probably damaging) |
| 0.5 | MAP2K3-R96W | het unknown | 0.500 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: 0.999 (probably damaging) |
| 0.5 | MAP2K3-Q102* | het unknown | 0.500 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 1 Nonsense mutation |
| 0.5 | MAP2K3-L215W | het unknown | 0.001 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 1.0 (probably damaging) |
| 0.5 | MAP2K3-T222M | het unknown | 0.289 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: 1.0 (probably damaging) |
| 0.5 | MAP2K3-P287PSS | het unknown | Unknown | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: Unknown | |
| 0.5 | MAP2K3-R293H | het unknown | 0.500 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: 0.338 (possibly damaging) |
| 0.5 | MAP2K3-V339M | het unknown | 0.500 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: 0.815 (possibly damaging) |
| 0.5 | AQP7-G264V | het unknown | 0.037 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 1.0 (probably damaging) |
| 0.5 | SLFN13-K658N | het unknown | 0.035 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: Unknown |
| 0.5 | SLFN13-E652K | het unknown | 0.578 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 0.5 | SLFN13-S235F | het unknown | 0.028 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.888 (probably damaging) |
| 0.5 | MYO15A-C1977R | homozygous | 0.805 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: Unknown, Testable gene in GeneTests |
| 0.5 | MYO15A-Y2682F | homozygous | 0.344 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests |
| 0.5 | COX10-R159Q | homozygous | 0.486 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests |
| 0.5 | ABCA1-K1587R | homozygous | 0.582 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests |
| 0.5 | MFSD6L-R486H | het unknown | 0.190 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: 0.913 (probably damaging) |
| 0.5 | MFSD6L-L85I | het unknown | 0.041 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.914 (probably damaging) |
| 0.5 | ROR2-V819I | homozygous | 0.704 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | ROR2-T245A | homozygous | 0.678 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | FAM201A-Q115* | het unknown | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Nonsense mutation | |
| 0.5 | SLC12A3-A264G | homozygous | 0.973 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: Unknown, Testable gene in GeneTests |
| 0.5 | SLC12A3-R913Q | het unknown | 0.074 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests |
| 0.5 | PLA2G4E-N371S | het unknown | 0.044 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown |
| 0.5 | HEXA-I436V | homozygous | 0.867 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | SEPN1-C108Y | homozygous | 0.788 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | SEPN1-N467K | homozygous | 0.629 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | BBS4-I354T | homozygous | 0.529 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | ALPL-R152H | het unknown | 0.011 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.001 (benign), Testable gene in GeneTests with associated GeneReview |
| 0.5 | TBC1D21-R83Q | het unknown | 0.010 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.997 (probably damaging) |
| 0.5 | NR2E3-T318Shift | homozygous | 1.000 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Frameshift, Testable gene in GeneTests |
| 0.5 | THSD4-D395N | het unknown | 0.006 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.923 (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 | DUOX2-S1067L | homozygous | 0.699 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: Unknown, Testable gene in GeneTests |
| 0.5 | DUOX2-P138L | homozygous | 0.741 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests |
| 0.5 | SLC28A2-P22L | homozygous | 0.474 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 0.5 | SLC28A2-S75R | homozygous | 0.497 | Unknown pharmacogenetic | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 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 | SLC12A1-R116H | het unknown | 0.004 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests |
| 0.5 | SLC12A1-G855Shift | het unknown | Unknown | Insufficiently evaluated | Prioritization score: 3 Frameshift, Testable gene in GeneTests | |
| 0.5 | SLC12A1-V958A | homozygous | 0.998 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: Unknown, Testable gene in GeneTests |
| 0.5 | WHAMM-N212S | het unknown | 0.188 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: 0.293 (possibly damaging) |
| 0.5 | WHAMM-H736P | het unknown | 0.004 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.952 (probably damaging) |
| 0.5 | ADAMTSL3-H146R | het unknown | 0.564 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: 0.04 (benign) |
| 0.5 | ADAMTSL3-L290V | homozygous | 0.849 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 0.5 | ADAMTSL3-V661L | homozygous | 0.620 | Unknown pharmacogenetic | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 0.5 | ADAMTSL3-T1660I | het unknown | 0.192 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: 0.001 (benign) |
| 0.5 | ABAT-Q56R | homozygous | 0.514 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests |
| 0.5 | ABCC6-M848V | homozygous | 0.962 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | TNRC6A-Q116Shift | het unknown | Unknown | Insufficiently evaluated | Prioritization score: 2 Frameshift | |
| 0.5 | TNRC6A-P117Shift | het unknown | Unknown | Insufficiently evaluated | Prioritization score: 2 Frameshift | |
| 0.5 | TNRC6A-Q1112H | het unknown | 0.026 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.997 (probably damaging) |
| 0.5 | SALL1-V1275I | homozygous | 0.988 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | DFNB31-H752Q | homozygous | 0.994 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | DFNB31-R364H | homozygous | 0.981 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | GLIS2-A75S | het unknown | 0.018 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests |
| 0.5 | PKD1-D3239H | het unknown | Unknown | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview | |
| 0.5 | PKD1-H2638R | het unknown | Unknown | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview | |
| 0.5 | PKD1-R2272Q | het unknown | Unknown | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview | |
| 0.5 | SLC28A1-V189I | homozygous | 0.303 | Unknown pharmacogenetic | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 0.5 | SLC28A1-Q237K | het unknown | 0.204 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 0.5 | FANCI-P55L | het unknown | 0.051 | Unknown benign | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | RNF186-E139Q | het unknown | 0.048 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.902 (probably damaging) |
| 0.5 | CDK5RAP2-V1540L | homozygous | 0.698 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | CDK5RAP2-E289Q | homozygous | 0.849 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | CEP110-V56I | homozygous | 0.569 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: 0.013 (benign) |
| 0.5 | CEP110-L954S | het unknown | 0.008 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.995 (probably damaging) |
| 0.5 | CEP110-K2067R | het unknown | Unknown | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: Unknown | |
| 0.5 | MRM1-C120S | het unknown | 0.033 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 1.0 (probably damaging) |
| 0.5 | ERBB2-I655V | homozygous | 0.168 | Unknown pharmacogenetic | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: 0.18 (benign) |
| 0.5 | ERBB2-P1170A | het unknown | 0.512 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: 0.983 (probably damaging) |
| 0.5 | SLC7A9-L223M | het unknown | 0.327 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.006 (benign), Testable gene in GeneTests |
| 0.5 | SLC7A9-V142A | homozygous | 0.355 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests |
| 0.5 | TRMT12-D195Shift | het unknown | 0.016 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Frameshift |
| 0.5 | TRMT12-D195E | het unknown | 0.016 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: 0.015 (benign) |
| 0.5 | THAP8-K112R | het unknown | 0.024 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: Unknown |
| 0.5 | THAP8-R70H | het unknown | 0.028 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 1.0 (probably damaging) |
| 0.5 | PRX-G1132R | homozygous | 0.955 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | DLL3-L142Q | het unknown | 0.054 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: 0.707 (possibly damaging), Testable gene in GeneTests with associated GeneReview |
| 0.5 | DLL3-F172C | het unknown | 0.153 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 4 Polyphen 2: 0.981 (probably damaging), Testable gene in GeneTests with associated GeneReview |
| 0.5 | DLL3-L218P | het unknown | 0.593 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | TG-S734A | het unknown | 0.592 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests |
| 0.5 | TG-M1028V | het unknown | 0.591 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: 0.003 (benign), Testable gene in GeneTests |
| 0.5 | TG-D1312G | homozygous | 0.456 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests |
| 0.5 | TG-D1838N | homozygous | 0.374 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: 0.061 (benign), Testable gene in GeneTests |
| 0.5 | TG-W2501R | het unknown | 0.614 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: 0.031 (benign), Testable gene in GeneTests |
| 0.5 | ZC3H3-S880K | het unknown | 0.057 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 0.5 | ZC3H3-T503K | het unknown | 0.011 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown |
| 0.5 | ZC3H3-S452G | homozygous | 0.719 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 0.5 | ZC3H3-S399G | het unknown | 0.390 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 0.5 | ZC3H3-G206Shift | het unknown | Unknown | Insufficiently evaluated | Prioritization score: 2 Frameshift | |
| 0.5 | ZC3H3-R168W | het unknown | 0.101 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: 0.858 (probably damaging) |
| 0.5 | ZC3H3-E151D | het unknown | 0.389 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 0.5 | ZC3H3-F149Y | het unknown | 0.129 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 0.5 | STXBP2-I526V | homozygous | 0.675 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: Unknown, 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 | het unknown | 0.787 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: 0.001 (benign), Testable gene in GeneTests with associated GeneReview |
| 0.5 | MAN2B1-N413S | het unknown | 0.082 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.489 (possibly damaging), Testable gene in GeneTests with associated GeneReview |
| 0.5 | MAN2B1-R337Q | het unknown | 0.373 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: 0.027 (benign), Testable gene in GeneTests with associated GeneReview |
| 0.5 | MAN2B1-T312I | het unknown | 0.458 | 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 | 0.321 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | NOTCH3-A2223V | homozygous | 0.730 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | NOTCH3-G2112S | het unknown | Unknown | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview | |
| 0.5 | CCDC130-L231Shift | het unknown | Unknown | Insufficiently evaluated | Prioritization score: 2 Frameshift | |
| 0.5 | CCDC130-K232Shift | het unknown | Unknown | Insufficiently evaluated | Prioritization score: 2 Frameshift | |
| 0.5 | CYP2B6-K262R | het unknown | 0.043 | Unknown pharmacogenetic | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: Unknown |
| 0.5 | BCKDHA-P39H | het unknown | 0.097 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | MED25-Q671P | het unknown | 0.029 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.508 (possibly damaging), Testable gene in GeneTests |
| 0.5 | TMEM67-I604V | homozygous | 0.638 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | AGRN-E728V | het unknown | 0.030 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: 0.998 (probably damaging), Testable gene in GeneTests |
| 0.5 | PEX2-C184R | homozygous | 0.989 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | SIGLEC12-P546Q | het unknown | 0.120 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: 0.267 (possibly damaging) |
| 0.5 | SIGLEC12-R528W | het unknown | 0.033 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.9 (probably damaging) |
| 0.5 | SIGLEC12-Y494S | het unknown | 0.888 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 0.5 | SIGLEC12-T478M | het unknown | 0.643 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: 0.006 (benign) |
| 0.5 | SIGLEC12-H398Y | het unknown | 0.386 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: 0.069 (benign) |
| 0.5 | SIGLEC12-H217Q | het unknown | 0.885 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: 0.015 (benign) |
| 0.5 | SIGLEC12-A82V | het unknown | 0.617 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: 0.001 (benign) |
| 0.5 | SIGLEC12-A66Shift | het unknown | 0.867 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 1 Frameshift |
| 0.5 | FAM83E-P311L | het unknown | 0.098 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.996 (probably damaging) |
| 0.5 | FAM83E-T91A | homozygous | 0.343 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 0.5 | CARD8-V43Shift | het unknown | 0.031 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Frameshift |
| 0.5 | LYPD4-T184S | het unknown | 0.035 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.983 (probably damaging) |
| 0.5 | IRGC-D135N | het unknown | 0.016 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.993 (probably damaging) |
| 0.5 | SLC30A8-R325W | homozygous | 0.227 | Unknown pharmacogenetic | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 0.5 | DMPK-L423V | het unknown | 0.095 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | VPS13B-V2559A | het unknown | 0.097 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | PLEC-SG4648DR | het unknown | Unknown | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview | |
| 0.5 | PLEC-G3458R | het unknown | Unknown | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview | |
| 0.5 | PLEC-A3171V | het unknown | 0.051 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | PLEC-R2969H | homozygous | 0.307 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | PLEC-S2791P | homozygous | 0.567 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | PLEC-A2194V | homozygous | 0.258 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | PLEC-H1459R | homozygous | 0.566 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | PLEC-R1386Q | homozygous | 0.304 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | PLEC-A641V | homozygous | 0.287 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | SHARPIN-P294S | het unknown | 0.033 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.995 (probably damaging) |
| 0.5 | BRIP1-S919P | homozygous | 0.612 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | AXIN2-P50S | homozygous | 0.389 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests |
| 0.5 | CACNG1-G196S | het unknown | 0.084 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.992 (probably damaging) |
| 0.5 | TSEN54-E4D | homozygous | 0.879 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | TSEN54-K347N | homozygous | 0.535 | 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 | 0.659 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.001 (benign), Testable gene in GeneTests with associated GeneReview |
| 0.5 | DNAI2-A558T | homozygous | 0.767 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | AP1S2-T35A | het unknown | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests | |
| 0.5 | AP1S2-R29P | het unknown | Unknown | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests | |
| 0.5 | COL1A1-T1075A | homozygous | 0.971 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | KRT33B-E85K | het unknown | 0.044 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.881 (probably damaging) |
| 0.5 | KRT14-C63Y | homozygous | 0.993 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | JUP-M697L | homozygous | 0.699 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | JUP-R142H | het unknown | 0.043 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | AX746787-R62* | het unknown | 0.008 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Nonsense mutation |
| 0.5 | BRCA1-S1634G | homozygous | 0.298 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | BRCA1-K1183R | homozygous | 0.295 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | BRCA1-E1038G | homozygous | 0.278 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: 0.462 (possibly damaging), Testable gene in GeneTests with associated GeneReview |
| 0.5 | BRCA1-P871L | homozygous | 0.496 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | BRCA1-D693N | het unknown | 0.053 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.004 (benign), Testable gene in GeneTests with associated GeneReview |
| 0.5 | ITGB4-L1779P | homozygous | 0.604 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | ACOX1-I312M | homozygous | 0.505 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests |
| 0.5 | CTDP1-S61A | homozygous | 0.659 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | KISS1R-L364H | homozygous | 0.884 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | NDUFS7-P23L | homozygous | 0.538 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.001 (benign), Testable gene in GeneTests |
| 0.5 | NPHP4-R740H | het unknown | 0.024 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.003 (benign), Testable gene in GeneTests |
| 0.5 | ACSBG2-V143A | het unknown | 0.698 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 0.5 | ACSBG2-G584D | het unknown | 0.029 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: Unknown |
| 0.5 | ACSBG2-G586D | het unknown | 0.029 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.979 (probably damaging) |
| 0.5 | ACSBG2-R624K | het unknown | 0.084 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 0.5 | ACSBG2-E626Q | het unknown | 0.084 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 0.5 | MTHFR-E429A | het unknown | 0.255 | Unknown pharmacogenetic | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.099 (benign), Testable gene in GeneTests |
| 0.5 | MTHFR-A222V | het unknown | 0.272 | Unknown pharmacogenetic | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: 0.858 (probably damaging), Testable gene in GeneTests |
| 0.5 | LOXHD1-G632C | het unknown | 0.015 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests |
| 0.5 | LOXHD1-G626C | het unknown | 0.015 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests |
| 0.5 | LOXHD1-V363I | het unknown | 0.076 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: Unknown, Testable gene in GeneTests |
| 0.5 | LOXHD1-M1K | het unknown | 0.031 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests |
| 0.5 | GAA-H199R | homozygous | 0.673 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | GAA-R223H | homozygous | 0.673 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | GAA-V780I | homozygous | 0.732 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | CCDC40-L752P | het unknown | 0.019 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.992 (probably damaging) |
| 0.5 | DDX58-P885S | het unknown | Unknown | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: Unknown | |
| 0.5 | DDX58-R71H | het unknown | 0.012 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.974 (probably damaging) |
| 0.5 | DOCK8-A22V | het unknown | 0.317 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: 0.009 (benign), Testable gene in GeneTests |
| 0.5 | DOCK8-P97T | homozygous | 0.465 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.961 (probably damaging), Testable gene in GeneTests |
| 0.5 | DOCK8-E237K | het unknown | Unknown | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests | |
| 0.5 | DOCK8-Y1340C | het unknown | Unknown | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests | |
| 0.5 | DSG3-S771F | het unknown | 0.027 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.992 (probably damaging) |
| 0.5 | DSG3-T912A | homozygous | 0.998 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: 0.001 (benign) |
| 0.5 | LAMA3-N2815K | het unknown | 0.152 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | LAMA3-S2834G | homozygous | 1.000 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | DEM1-D115N | het unknown | 0.155 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: 0.158 (benign) |
| 0.5 | DEM1-G172V | homozygous | 0.464 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 0.5 | DEM1-R344Shift | het unknown | 0.016 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Frameshift |
| 0.5 | GBP1-T349S | het unknown | 0.794 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 0.5 | GBP1-S213N | het unknown | 0.019 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown |
| 0.5 | FAM35A-F132L | het unknown | Unknown | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: Unknown | |
| 0.5 | FAM35A-K140Shift | het unknown | Unknown | Insufficiently evaluated | Prioritization score: 2 Frameshift | |
| 0.5 | FAM35A-K161Q | het unknown | Unknown | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: Unknown | |
| 0.5 | FAM35A-I477S | het unknown | Unknown | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: Unknown | |
| 0.5 | FAM35A-S550C | het unknown | 0.321 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: 0.588 (possibly damaging) |
| 0.5 | FAM35A-E551D | het unknown | Unknown | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: Unknown | |
| 0.5 | FAM35A-T606Shift | het unknown | Unknown | Insufficiently evaluated | Prioritization score: 2 Frameshift | |
| 0.5 | PLCE1-R1575P | homozygous | 0.476 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests |
| 0.5 | PLCE1-T1777I | homozygous | 0.321 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests |
| 0.5 | PLCE1-H1927R | homozygous | 0.318 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.002 (benign), Testable gene in GeneTests |
| 0.5 | ABCC2-F10V | het unknown | Unknown | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests | |
| 0.5 | ABCC2-Y39F | homozygous | 0.993 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests |
| 0.5 | ABCC2-R152W | het unknown | Unknown | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests | |
| 0.5 | COL17A1-M703V | homozygous | 0.715 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | COL17A1-G428S | homozygous | 0.845 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | COL17A1-T210M | homozygous | 0.580 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | PDCD11-V899A | het unknown | 0.011 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.968 (probably damaging) |
| 0.5 | PDCD11-L1216F | het unknown | 0.412 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 0.5 | PDCD11-D1871A | het unknown | 0.344 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: 0.995 (probably damaging) |
| 0.5 | CDH23-G488A | het unknown | 0.122 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | CDH23-S494N | het unknown | 0.248 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | CDH23-N1349D | homozygous | 0.813 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | CDH23-A1572T | homozygous | 0.739 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | CDH23-T1996S | het unknown | 0.414 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | CDH23-E2041K | het unknown | 0.261 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | CDH23-R2355Q | het unknown | 0.255 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | CDH23-P2377L | het unknown | 0.248 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | CDH23-F3122L | het unknown | 0.026 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | SLC29A3-R18G | het unknown | 0.488 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests |
| 0.5 | SLC29A3-S158F | homozygous | 0.618 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: Unknown, Testable gene in GeneTests |
| 0.5 | SLC29A3-V239I | homozygous | 0.864 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests |
| 0.5 | SLC29A3-I326V | homozygous | 0.893 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: Unknown, Testable gene in GeneTests |
| 0.5 | PTCHD3-*768Q | het unknown | 0.630 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 0.5 | PTCHD3-D590Shift | het unknown | 0.016 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Frameshift |
| 0.5 | PTCHD3-I584M | homozygous | 0.960 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 0.5 | PTCHD3-M521T | het unknown | 0.631 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 0.5 | PTCHD3-D473G | het unknown | 0.630 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: 0.849 (possibly damaging) |
| 0.5 | PTCHD3-L152P | het unknown | 0.267 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: 0.995 (probably damaging) |
| 0.5 | ARMC4-R787C | het unknown | 0.015 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: 0.001 (benign) |
| 0.5 | ARMC4-R666Q | het unknown | 0.015 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.982 (probably damaging) |
| 0.5 | PPYR1-A99S | het unknown | 0.274 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: 0.03 (benign) |
| 0.5 | PPYR1-R240C | het unknown | 0.228 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: 0.332 (possibly damaging) |
| 0.5 | PPYR1-V276M | het unknown | 0.014 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.889 (probably damaging) |
| 0.5 | CHAT-A120T | het unknown | 0.184 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: 0.013 (benign), Testable gene in GeneTests with associated GeneReview |
| 0.5 | CHAT-V461M | homozygous | 0.961 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | ATP7A-V767L | het unknown | 0.254 | Unknown pharmacogenetic | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | ATP7A-E1350K | homozygous | 1.000 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | ADRB1-G389R | homozygous | 0.681 | Unknown pharmacogenetic | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 0.5 | DMBT1-P42T | homozygous | 0.676 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: 0.941 (probably damaging) |
| 0.5 | DMBT1-S54L | homozygous | 0.676 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: 0.84 (possibly damaging) |
| 0.5 | DMBT1-A268V | het unknown | Unknown | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: Unknown | |
| 0.5 | DMBT1-H1084Y | het unknown | 0.022 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.999 (probably damaging) |
| 0.5 | F2-T165M | het unknown | 0.094 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: 0.346 (possibly damaging), Testable gene in GeneTests with associated GeneReview |
| 0.5 | ROM1-G118A | homozygous | 0.938 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.008 (benign), Testable gene in GeneTests |
| 0.5 | MEN1-T546A | homozygous | 0.908 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | RIN1-A79T | het unknown | 0.033 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.96 (probably damaging) |
| 0.5 | PCNXL3-Q258R | homozygous | 0.996 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 0.5 | PCNXL3-S458C | het unknown | 0.338 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: 0.065 (benign) |
| 0.5 | PCNXL3-R1917Q | het unknown | 0.028 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.932 (probably damaging) |
| 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 | ALX4-P102S | het unknown | 0.302 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | ALX4-R35T | het unknown | 0.419 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 4 Polyphen 2: 0.985 (probably damaging), Testable gene in GeneTests with associated GeneReview |
| 0.5 | KNDC1-S634Shift | het unknown | 0.010 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Frameshift |
| 0.5 | KNDC1-L717P | het unknown | 0.561 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 0.5 | KRTAP5-1-A166G | het unknown | 0.083 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 0.5 | KRTAP5-1-S163C | het unknown | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown | |
| 0.5 | KRTAP5-1-C162G | het unknown | Unknown | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: Unknown | |
| 0.5 | H19-G355R | homozygous | 0.372 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | H19-V94I | homozygous | 0.361 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | H19-W38R | homozygous | 0.342 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | SLC6A5-G102S | het unknown | 0.369 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | SLC6A5-F124S | homozygous | 0.799 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | SLC6A5-A162G | homozygous | 0.993 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | USH1C-E819D | homozygous | 0.517 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | MYO3A-R319H | homozygous | 0.488 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: Unknown, Testable gene in GeneTests |
| 0.5 | MYO3A-V369I | homozygous | 0.661 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: Unknown, Testable gene in GeneTests |
| 0.5 | MYO3A-S956N | homozygous | 0.520 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests |
| 0.5 | PTF1A-S263P | homozygous | 0.507 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.981 (probably damaging), Testable gene in GeneTests |
| 0.5 | RHBG-G76D | het unknown | 0.372 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 0.5 | RHBG-G315R | het unknown | 0.458 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 0.5 | RHBG-P424Shift | het unknown | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Frameshift | |
| 0.5 | RHBG-H428R | het unknown | 0.637 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 0.5 | USP21-G321D | het unknown | 0.042 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.981 (probably damaging) |
| 0.5 | CEP350-R892T | het unknown | 0.039 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.987 (probably damaging) |
| 0.5 | CEP350-T1446A | het unknown | 0.077 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: 0.197 (benign) |
| 0.5 | IER5-R92H | het unknown | 0.287 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 0.5 | IER5-V168I | het unknown | Unknown | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: Unknown | |
| 0.5 | IER5-Q202R | homozygous | 0.980 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 0.5 | IER5-P285S | het unknown | 0.041 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.999 (probably damaging) |
| 0.5 | KIAA1614-L64P | homozygous | 0.996 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 0.5 | KIAA1614-R301C | het unknown | 0.020 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.999 (probably damaging) |
| 0.5 | KIAA1614-L801F | homozygous | 0.412 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 0.5 | KIAA1614-T980A | het unknown | Unknown | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: Unknown | |
| 0.5 | KIAA1614-N1078D | homozygous | 0.996 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 0.5 | IL6R-D358A | homozygous | 0.316 | Unknown pharmacogenetic | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: 0.911 (probably damaging) |
| 0.5 | OCRL-T14I | het unknown | 0.004 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.009 (benign), Testable gene in GeneTests with associated GeneReview |
| 0.5 | FRMD7-R468H | het unknown | 0.064 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | AX747691-Q90Shift | het unknown | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Frameshift | |
| 0.5 | AX747691-A34T | het unknown | 0.016 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: Unknown |
| 0.5 | DBT-S384G | homozygous | 0.858 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | GSTM1-S210T | homozygous | 0.589 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests |
| 0.5 | COL11A1-S1547P | homozygous | 0.806 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | COL11A1-P1335L | homozygous | 0.448 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | RNASEL-D541E | homozygous | 0.475 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests |
| 0.5 | CFH-H402Y | homozygous | 0.626 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | CFH-E936D | het unknown | 0.139 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: 0.504 (possibly damaging), Testable gene in GeneTests with associated GeneReview |
| 0.5 | EDARADD-M9I | homozygous | 0.741 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | MTR-D919G | het unknown | 0.217 | Complex/Other protective | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: 0.777 (possibly damaging), Testable gene in GeneTests with associated GeneReview |
| 0.5 | CHML-A209V | het unknown | 0.022 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown |
| 0.5 | CUBN-S2717W | homozygous | 1.000 | 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-S1935G | het unknown | 0.145 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: Unknown, Testable gene in GeneTests |
| 0.5 | CUBN-P1559S | homozygous | 0.743 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: Unknown, Testable gene in GeneTests |
| 0.5 | CUBN-P389T | homozygous | 0.588 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests |
| 0.5 | CUBN-F253S | het unknown | 0.703 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: Unknown, Testable gene in GeneTests |
| 0.5 | OPTN-K322E | homozygous | 0.991 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests |
| 0.5 | AGT-M268T | homozygous | 0.561 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | OBSCN-Q502R | homozygous | 0.628 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: 0.98 (probably damaging) |
| 0.5 | OBSCN-V1508D | homozygous | 1.000 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: 0.005 (benign) |
| 0.5 | OBSCN-A1532V | het unknown | 0.265 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: 0.002 (benign) |
| 0.5 | OBSCN-D2106E | homozygous | 0.739 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: 0.04 (benign) |
| 0.5 | OBSCN-F2116L | homozygous | 0.707 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: 0.182 (benign) |
| 0.5 | OBSCN-R2529Q | het unknown | 0.018 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.989 (probably damaging) |
| 0.5 | OBSCN-V2720M | het unknown | 0.296 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: 0.839 (possibly damaging) |
| 0.5 | OBSCN-R2812W | het unknown | 0.027 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.995 (probably damaging) |
| 0.5 | OBSCN-A3300T | het unknown | 0.302 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: 0.552 (possibly damaging) |
| 0.5 | OBSCN-ES3372DC | het unknown | 0.078 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 0.5 | OBSCN-G4039R | het unknown | 0.363 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: 0.932 (probably damaging) |
| 0.5 | OBSCN-H4381R | homozygous | 0.752 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: 0.99 (probably damaging) |
| 0.5 | OBSCN-C4450R | homozygous | 0.745 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: 0.907 (probably damaging) |
| 0.5 | OBSCN-R4516W | het unknown | 0.374 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: 0.65 (possibly damaging) |
| 0.5 | OBSCN-R4534H | het unknown | 0.256 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: 0.515 (possibly damaging) |
| 0.5 | OBSCN-S4642C | homozygous | 0.747 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: 0.058 (benign) |
| 0.5 | OBSCN-R4662C | het unknown | 0.018 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: 0.838 (possibly damaging) |
| 0.5 | OBSCN-D4962G | homozygous | 0.740 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: 0.467 (possibly damaging) |
| 0.5 | OBSCN-Q5891E | homozygous | 0.548 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: 0.027 (benign) |
| 0.5 | OBSCN-P6271S | homozygous | 0.083 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: 0.402 (possibly damaging) |
| 0.5 | OBSCN-R6805W | het unknown | 0.044 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: 0.65 (possibly damaging) |
| 0.5 | OBSCN-A7172V | homozygous | 0.555 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: 0.012 (benign) |
| 0.5 | OBSCN-R7724H | homozygous | 0.086 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: 0.515 (possibly damaging) |
| 0.5 | ASPM-L3132R | het unknown | 0.036 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | ASPM-L2647I | homozygous | 0.320 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | ASPM-Y2494H | homozygous | 0.996 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | CACNA1S-R1658H | het unknown | 0.120 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | CACNA1S-R1539C | het unknown | 0.089 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | CACNA1S-L458H | het unknown | 0.273 | Unknown benign | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | NEGR1-Y347S | het unknown | 0.025 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.991 (probably damaging) |
| 0.5 | EPHX1-Y113H | het unknown | 0.257 | Unknown pharmacogenetic | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.997 (probably damaging) |
| 0.5 | EPHX1-H139R | het unknown | 0.248 | Unknown pharmacogenetic | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: Unknown |
| 0.5 | LBR-S154N | homozygous | 0.704 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests |
| 0.5 | AIP-Q228K | homozygous | 0.832 | 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 | ITIH5L-W1041S | het unknown | 0.064 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.986 (probably damaging) |
| 0.5 | TEP1-N307K | homozygous | 0.297 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | TEP1-S116P | homozygous | 0.385 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | MYH6-V1663I | het unknown | Unknown | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview | |
| 0.5 | MYH6-V1101A | het unknown | 0.461 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | MYH6-G56R | het unknown | 0.083 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | PCK2-Q121P | homozygous | 1.000 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests |
| 0.5 | C14orf23-K115Shift | het unknown | Unknown | Insufficiently evaluated | Prioritization score: 2 Frameshift | |
| 0.5 | C14orf23-K116Shift | het unknown | Unknown | Insufficiently evaluated | Prioritization score: 2 Frameshift | |
| 0.5 | CMA1-H66R | het unknown | 0.015 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: 0.963 (probably damaging) |
| 0.5 | NR_028064-G139Shift | het unknown | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Frameshift | |
| 0.5 | NR_028064-H49Q | het unknown | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: Unknown | |
| 0.5 | POMGNT1-M623V | homozygous | 0.940 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests |
| 0.5 | SGCG-N287S | homozygous | 0.821 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests |
| 0.5 | SACS-V3369A | homozygous | 0.204 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.769 (possibly damaging), Testable gene in GeneTests with associated GeneReview |
| 0.5 | B3GALTL-E370K | homozygous | 0.658 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.088 (benign), Testable gene in GeneTests with associated GeneReview |
| 0.5 | SPERT-S286* | het unknown | 0.041 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Nonsense mutation |
| 0.5 | SPERT-K329E | homozygous | 0.599 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 0.5 | LCN12-D125N | het unknown | 0.006 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.997 (probably damaging) |
| 0.5 | LCN12-V191I | het unknown | 0.059 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: 0.242 (possibly damaging) |
| 0.5 | SIX6-H141N | homozygous | 0.434 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.008 (benign), Testable gene in GeneTests with associated GeneReview |
| 0.5 | AK8-D130G | het unknown | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.998 (probably damaging) | |
| 0.5 | AK8-I5T | het unknown | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: Unknown | |
| 0.5 | MOAP1-V197M | het unknown | 0.007 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.98 (probably damaging) |
| 0.5 | SETX-I2587V | het unknown | 0.450 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | SETX-T1855A | het unknown | 0.310 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | SETX-I1386V | het unknown | 0.691 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | SETX-G1252R | het unknown | 0.690 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | SETX-D1192E | het unknown | 0.790 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | SETX-F1152C | het unknown | 0.038 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | SETX-A660G | het unknown | 0.115 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | PACS2-P714L | het unknown | 0.039 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 1.0 (probably damaging) |
| 0.5 | OCA2-R419Q | het unknown | 0.057 | Unknown benign | Insufficiently evaluated | Prioritization score: 4 Polyphen 2: 0.998 (probably damaging), Testable gene in GeneTests with associated GeneReview |
| 0.5 | ATP10A-A1179T | het unknown | 0.252 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: 0.108 (benign) |
| 0.5 | ATP10A-R999H | het unknown | 0.003 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.998 (probably damaging) |
| 0.5 | CHGA-G382S | het unknown | 0.021 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown |
| 0.5 | CHGA-R399W | het unknown | 0.105 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: Unknown |
| 0.5 | LY96-R56G | homozygous | 0.972 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 0.5 | LY96-P157S | het unknown | 0.013 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.909 (probably damaging) |
| 0.5 | SYNE2-M1969T | homozygous | 0.741 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.991 (probably damaging), Testable gene in GeneTests |
| 0.5 | SYNE2-A2284V | homozygous | 0.741 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: 0.289 (possibly damaging), Testable gene in GeneTests |
| 0.5 | SYNE2-S2359N | homozygous | 0.769 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: 0.697 (possibly damaging), Testable gene in GeneTests |
| 0.5 | SYNE2-A2395T | homozygous | 0.880 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: Unknown, Testable gene in GeneTests |
| 0.5 | SYNE2-S2802G | homozygous | 0.914 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: 0.012 (benign), Testable gene in GeneTests |
| 0.5 | SYNE2-I2942V | homozygous | 0.723 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: Unknown, Testable gene in GeneTests |
| 0.5 | SYNE2-D3253H | homozygous | 0.740 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.933 (probably damaging), Testable gene in GeneTests |
| 0.5 | SYNE2-H3309R | homozygous | 0.742 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: 0.001 (benign), Testable gene in GeneTests |
| 0.5 | SYNE2-P6846S | het unknown | Unknown | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests | |
| 0.5 | ZFYVE26-N1891S | homozygous | 0.942 | 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 | 0.261 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.005 (benign), Testable gene in GeneTests |
| 0.5 | MLH3-P844L | het unknown | 0.443 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.002 (benign), Testable gene in GeneTests with associated GeneReview |
| 0.5 | MLH3-N826D | homozygous | 0.989 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | GALC-T641A | homozygous | 0.959 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | GALC-I562T | het unknown | 0.524 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.167 (benign), Testable gene in GeneTests with associated GeneReview |
| 0.5 | GALC-D248N | het unknown | 0.115 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: 0.972 (probably damaging), Testable gene in GeneTests with associated GeneReview |
| 0.5 | GALC-A21P | het unknown | 0.086 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: 0.163 (benign), Testable gene in GeneTests with associated GeneReview |
| 0.5 | TSHR-E727D | homozygous | 0.920 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests |
| 0.5 | SCARB1-G2S | het unknown | 0.081 | Unknown pharmacogenetic | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: 0.937 (probably damaging) |
| 0.5 | KNTC1-K245N | het unknown | 0.154 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: 0.289 (possibly damaging) |
| 0.5 | KNTC1-V2021G | het unknown | 0.079 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.992 (probably damaging) |
| 0.5 | WNK1-T1056P | homozygous | 0.850 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | WNK1-C1506S | homozygous | 0.985 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | RAD52-Y415* | het unknown | 0.014 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Nonsense mutation |
| 0.5 | NDUFA9-P294L | het unknown | 0.017 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.997 (probably damaging) |
| 0.5 | A2ML1-D850E | homozygous | 0.963 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 0.5 | A2ML1-R1122W | het unknown | 0.304 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 0.5 | A2ML1-A1226Shift | het unknown | 0.009 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Frameshift |
| 0.5 | A2ML1-H1229R | homozygous | 0.968 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 0.5 | A2ML1-M1257V | homozygous | 0.779 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 0.5 | DMD-R2937Q | het unknown | 0.957 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | DMD-R1745H | het unknown | 0.336 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: 0.999 (probably damaging), Testable gene in GeneTests with associated GeneReview |
| 0.5 | DMD-D882G | homozygous | 0.650 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | IL10RA-R351G | homozygous | 0.726 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 0.5 | IL10RA-S420L | het unknown | 0.034 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.983 (probably damaging) |
| 0.5 | FXYD2-E68G | homozygous | 0.474 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: Unknown, Testable gene in GeneTests |
| 0.5 | FXYD2-A67V | het unknown | 0.026 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests |
| 0.5 | IGHMBP2-L201S | homozygous | 0.777 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests |
| 0.5 | IGHMBP2-T671A | het unknown | 0.246 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests |
| 0.5 | IGHMBP2-T879K | het unknown | 0.209 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests |
| 0.5 | LEPR-K109R | het unknown | 0.231 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.026 (benign), Testable gene in GeneTests |
| 0.5 | LEPR-Q223R | homozygous | 0.486 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.484 (possibly damaging), Testable gene in GeneTests |
| 0.5 | MYO7A-S1666C | homozygous | 0.588 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | MYO7A-L1954I | het unknown | 0.549 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | MYO7A-V1956I | het unknown | Unknown | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview | |
| 0.5 | ATM-D1853N | het unknown | 0.100 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | ATM-N1983S | homozygous | 1.000 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | BC112980-K147Shift | het unknown | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Frameshift | |
| 0.5 | HEBP1-E183D | het unknown | 0.026 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.97 (probably damaging) |
| 0.5 | SLCO1B3-S112A | homozygous | 0.718 | Unknown pharmacogenetic | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 0.5 | SLCO1B3-M233I | homozygous | 0.718 | Unknown pharmacogenetic | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: 0.131 (benign) |
| 0.5 | MMAB-M239K | homozygous | 0.598 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | MMAB-R19Q | homozygous | 0.283 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | CPT2-V368I | homozygous | 0.456 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | CPT2-M647V | het unknown | 0.167 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: 0.462 (possibly damaging), Testable gene in GeneTests with associated GeneReview |
| 0.5 | SDS-K21T | het unknown | 0.001 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | HPD-T33A | homozygous | 0.902 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests |
| 0.5 | HNF1A-S574G | homozygous | 0.986 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests |
| 0.5 | DDIT3-E146K | het unknown | 0.002 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.993 (probably damaging) |
| 0.5 | ASMTL-*622Shift | het unknown | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Frameshift | |
| 0.5 | GYS2-M363V | homozygous | 0.739 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests |
| 0.5 | LRRK2-R50H | homozygous | 0.964 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | LRRK2-S1647T | het unknown | 0.258 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | LRRK2-M2397T | homozygous | 0.614 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | ARSE-G424S | homozygous | 0.490 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: 0.003 (benign), Testable gene in GeneTests with associated GeneReview |
| 0.5 | KRT83-H493Y | homozygous | 0.751 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests |
| 0.5 | KRT83-I279M | het unknown | 0.409 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests |
| 0.5 | COL2A1-E142D | het unknown | 0.037 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | COL2A1-T9S | het unknown | 0.791 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | RECQL4-R1005Q | het unknown | 0.338 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 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-E267D | het unknown | 0.387 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | RECQL4-S92P | homozygous | 0.995 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | NR_027052-Q90* | het unknown | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Nonsense mutation | |
| 0.5 | HADH-L86P | homozygous | 0.847 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | HADH-F92C | het unknown | Unknown | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview | |
| 0.5 | CFI-T300A | homozygous | 0.965 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | CLCN1-G118W | homozygous | 0.983 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | MMAA-Q363H | het unknown | 0.050 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | MANBA-T701M | homozygous | 0.552 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests |
| 0.5 | LILRB3-R465L | het unknown | 0.045 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.998 (probably damaging) |
| 0.5 | LILRB3-N252D | homozygous | 0.831 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 0.5 | LILRB3-M115L | homozygous | 0.853 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 0.5 | N4BP2-D611N | homozygous | 0.746 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 0.5 | N4BP2-E861V | het unknown | 0.017 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: 0.995 (probably damaging) |
| 0.5 | N4BP2-G1737R | het unknown | 0.026 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.999 (probably damaging) |
| 0.5 | CNGA1-S3F | het unknown | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests | |
| 0.5 | PKD2-R28P | het unknown | 0.099 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: 0.62 (possibly damaging), Testable gene in GeneTests with associated GeneReview |
| 0.5 | UNC5C-A841T | het unknown | 0.015 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown |
| 0.5 | UNC5C-M721T | homozygous | 0.525 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 0.5 | NR3C2-V180I | homozygous | 0.899 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests |
| 0.5 | NEIL3-P117R | het unknown | 0.099 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.998 (probably damaging) |
| 0.5 | NEIL3-H286R | het unknown | 0.109 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: 0.061 (benign) |
| 0.5 | NEIL3-P443L | homozygous | 0.738 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 0.5 | NEIL3-Q471H | homozygous | 0.769 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 0.5 | NEIL3-G520R | homozygous | 0.949 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 0.5 | MRPS30-C33S | homozygous | 0.331 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 0.5 | MRPS30-A102V | het unknown | 0.009 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.903 (probably damaging) |
| 0.5 | HEXB-L62S | homozygous | 0.968 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests |
| 0.5 | WDR41-R441H | het unknown | 0.004 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.999 (probably damaging) |
| 0.5 | WDR41-V329I | homozygous | 0.505 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 0.5 | AP3B1-V585E | homozygous | 0.932 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: 0.002 (benign), Testable gene in GeneTests with associated GeneReview |
| 0.5 | NNT-K63R | het unknown | 0.033 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.97 (probably damaging) |
| 0.5 | NNT-L663F | het unknown | 0.032 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: 0.809 (possibly damaging) |
| 0.5 | OSMR-E527K | het unknown | 0.192 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: 0.131 (benign) |
| 0.5 | OSMR-G578D | het unknown | 0.019 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.989 (probably damaging) |
| 0.5 | AGA-T149S | homozygous | 0.923 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests |
| 0.5 | SLC6A18-C12S | homozygous | 0.793 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 0.5 | SLC6A18-T32I | homozygous | 0.868 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 0.5 | SLC6A18-G79S | het unknown | 0.052 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.999 (probably damaging) |
| 0.5 | SLC6A18-Y319* | het unknown | 0.363 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 1 Nonsense mutation |
| 0.5 | SLC6A18-P478L | homozygous | 0.799 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 0.5 | SLC6A3-L167F | het unknown | 0.001 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests |
| 0.5 | RNF133-M1I | het unknown | 0.029 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.965 (probably damaging) |
| 0.5 | DNAH5-I4450V | het unknown | 0.528 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | DNAH5-T4220A | het unknown | 0.061 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: 0.959 (probably damaging), Testable gene in GeneTests with associated GeneReview |
| 0.5 | DNAH5-A4134V | het unknown | 0.461 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | DNAH5-L2862F | het unknown | 0.248 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.006 (benign), Testable gene in GeneTests with associated GeneReview |
| 0.5 | DNAH5-Q2463R | het unknown | 0.204 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: 0.99 (probably damaging), Testable gene in GeneTests with associated GeneReview |
| 0.5 | DNAH5-I766L | het unknown | 0.518 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.026 (benign), Testable gene in GeneTests with associated GeneReview |
| 0.5 | DNAH5-T558A | het unknown | 0.330 | 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 | het unknown | 0.393 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | DNAH5-H12Q | homozygous | 0.924 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | PROM1-S19A | het unknown | 0.006 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests |
| 0.5 | EVC-Y258H | het unknown | 0.706 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: 0.985 (probably damaging), Testable gene in GeneTests |
| 0.5 | EVC-T449K | homozygous | 0.852 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests |
| 0.5 | EVC-R576Q | het unknown | 0.309 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: 0.998 (probably damaging), Testable gene in GeneTests |
| 0.5 | CCBP2-V41A | het unknown | 0.050 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.97 (probably damaging) |
| 0.5 | CCBP2-Y373S | het unknown | 0.344 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 0.5 | MTUS1-S267P | het unknown | 0.025 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.991 (probably damaging) |
| 0.5 | MTUS1-C148R | homozygous | 0.730 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: 0.986 (probably damaging) |
| 0.5 | LAMB2-A1765T | het unknown | 0.022 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests |
| 0.5 | LAMB2-E987K | het unknown | 0.096 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: 0.17 (benign), Testable gene in GeneTests |
| 0.5 | LAMB2-D531N | het unknown | Unknown | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests | |
| 0.5 | ERC2-N542S | het unknown | 0.043 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.212 (possibly damaging) |
| 0.5 | ASAH1-V246A | homozygous | 0.867 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: Unknown, Testable gene in GeneTests |
| 0.5 | ASAH1-I93V | homozygous | 0.420 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests |
| 0.5 | PPARG-P12A | het unknown | 0.089 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: 0.979 (probably damaging), Testable gene in GeneTests |
| 0.5 | HPS4-Q620H | homozygous | 0.868 | 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 | 0.868 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | HPS4-V547M | homozygous | 0.821 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | HPS4-E224G | homozygous | 0.821 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | ISX-S28G | het unknown | 0.731 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 0.5 | ISX-R83Q | het unknown | 0.039 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: 1.0 (probably damaging) |
| 0.5 | ISX-T182M | het unknown | 0.083 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: 0.002 (benign) |
| 0.5 | TRIOBP-S217N | het unknown | 0.544 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.914 (probably damaging), Testable gene in GeneTests |
| 0.5 | TRIOBP-Q398Del | het unknown | 0.308 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: Unknown, Testable gene in GeneTests |
| 0.5 | TRIOBP-K413R | het unknown | 0.034 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: 0.001 (benign), Testable gene in GeneTests |
| 0.5 | TRIOBP-T715I | het unknown | Unknown | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests | |
| 0.5 | TRIOBP-N863K | het unknown | 0.342 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.98 (probably damaging), Testable gene in GeneTests |
| 0.5 | TRIOBP-F1187L | het unknown | 0.347 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.995 (probably damaging), Testable gene in GeneTests |
| 0.5 | TRIOBP-H1300R | het unknown | 0.624 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: 0.006 (benign), Testable gene in GeneTests |
| 0.5 | TRIOBP-W1377R | homozygous | 0.965 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: 0.084 (benign), Testable gene in GeneTests |
| 0.5 | TRIOBP-L1389I | het unknown | Unknown | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests | |
| 0.5 | TRIOBP-H2191Y | het unknown | Unknown | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests | |
| 0.5 | TRIOBP-N2269S | het unknown | Unknown | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests | |
| 0.5 | SHANK3-I245T | homozygous | 0.479 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | TYMP-S471L | het unknown | 0.069 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: 0.961 (probably damaging), Testable gene in GeneTests with associated GeneReview |
| 0.5 | MCPH1-R171S | homozygous | 0.924 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | MCPH1-D314H | homozygous | 0.681 | 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 | 0.993 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | MCPH1-T682N | het unknown | 0.131 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: 0.993 (probably damaging), Testable gene in GeneTests with associated GeneReview |
| 0.5 | ARL13B-T348S | het unknown | 0.087 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.006 (benign), Testable gene in GeneTests with associated GeneReview |
| 0.5 | MCCC1-H464P | homozygous | 0.584 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests |
| 0.5 | CLCN2-T668S | homozygous | 0.594 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests |
| 0.5 | TNK2-R1086H | het unknown | 0.037 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown |
| 0.5 | IDUA-H33Q | homozygous | 0.904 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: 0.008 (benign), Testable gene in GeneTests with associated GeneReview |
| 0.5 | IDUA-R105Q | het unknown | 0.140 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: 0.023 (benign), Testable gene in GeneTests with associated GeneReview |
| 0.5 | IDUA-A361T | het unknown | 0.171 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | IDUA-V454I | het unknown | 0.110 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: 0.003 (benign), Testable gene in GeneTests with associated GeneReview |
| 0.5 | CP-T551I | het unknown | 0.023 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.915 (probably damaging) |
| 0.5 | CP-E544D | het unknown | 0.851 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: Unknown |
| 0.5 | PCCB-G407Shift | het unknown | Unknown | Insufficiently evaluated | Prioritization score: 3 Frameshift, Testable gene in GeneTests | |
| 0.5 | PCCB-I409Shift | het unknown | Unknown | Insufficiently evaluated | Prioritization score: 3 Frameshift, Testable gene in GeneTests | |
| 0.5 | PCCB-H411N | het unknown | Unknown | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests | |
| 0.5 | KIAA1407-H84N | het unknown | 0.007 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.999 (probably damaging) |
| 0.5 | DRD3-G9S | homozygous | 0.533 | Unknown pharmacogenetic | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: Unknown |
| 0.5 | HGD-Q80H | homozygous | 0.745 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | CHST13-S50R | het unknown | 0.001 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.97 (probably damaging) |
| 0.5 | CHST13-R317Q | het unknown | 0.340 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: 0.951 (probably damaging) |
| 0.5 | NOS3-E156K | het unknown | Unknown | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: Unknown | |
| 0.5 | NOS3-V157M | het unknown | Unknown | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: Unknown | |
| 0.5 | NOS3-D298E | homozygous | 0.749 | Unknown pharmacogenetic | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: Unknown |
| 0.5 | ARSB-V358M | homozygous | 0.320 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.117 (benign), Testable gene in GeneTests |
| 0.5 | GPR98-L1093F | homozygous | 0.731 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | GPR98-V1951I | homozygous | 0.732 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | GPR98-P1987L | het unknown | 0.302 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.366 (possibly damaging), Testable gene in GeneTests with associated GeneReview |
| 0.5 | GPR98-Y2232C | het unknown | 0.316 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 4 Polyphen 2: 0.989 (probably damaging), Testable gene in GeneTests with associated GeneReview |
| 0.5 | GPR98-N2345S | het unknown | 0.288 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: 0.999 (probably damaging), Testable gene in GeneTests with associated GeneReview |
| 0.5 | GPR98-N2584S | homozygous | 0.735 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | GPR98-V3094I | het unknown | 0.066 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | GPR98-E3471K | homozygous | 0.758 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | GPR98-E3867K | het unknown | 0.250 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | GPR98-E5344G | homozygous | 0.937 | 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 | 0.972 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | GPR98-V5876I | homozygous | 0.432 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: 0.94 (probably damaging), Testable gene in GeneTests with associated GeneReview |
| 0.5 | LMBRD1-D469E | homozygous | 0.313 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.001 (benign), Testable gene in GeneTests with associated GeneReview |
| 0.5 | LCA5-G656D | het unknown | 0.381 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | LCA5-L24S | homozygous | 0.839 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.001 (benign), Testable gene in GeneTests with associated GeneReview |
| 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 | AIM1-Q293P | het unknown | 0.243 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 0.5 | AIM1-E1196A | homozygous | 0.930 | Unknown pharmacogenetic | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: 0.015 (benign) |
| 0.5 | AIM1-C1395Y | het unknown | 0.254 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: 0.958 (probably damaging) |
| 0.5 | PKHD1-Q4048R | het unknown | 0.524 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | PKHD1-Q3899R | het unknown | 0.522 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | PKHD1-L1870V | homozygous | 0.952 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | PKHD1-A1262V | het unknown | 0.389 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | PKHD1-Y1136C | het unknown | Unknown | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview | |
| 0.5 | PKHD1-R760C | het unknown | 0.386 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | CUL7-Q813R | homozygous | 0.977 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | HLA-DQB1-D167G | het unknown | Unknown | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview | |
| 0.5 | HLA-DQB1-G157A | het unknown | 0.420 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | HLA-DQB1-G157S | het unknown | 0.191 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | HLA-DQB1-V148I | het unknown | 0.180 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | HLA-DQB1-F41Y | homozygous | 0.782 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | HLA-DQB1-L28S | het unknown | 0.375 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | HLA-DQB1-L28S | het unknown | 0.375 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | HLA-DQB1-S27T | het unknown | 0.372 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | HLA-DQB1-M24I | het unknown | 0.197 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | HLA-DQB1-A23S | het unknown | 0.121 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | COL11A2-P894L | het unknown | 0.096 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: 0.996 (probably damaging), Testable gene in GeneTests with associated GeneReview |
| 0.5 | TULP1-K261N | homozygous | 0.844 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | TULP1-I259T | homozygous | 0.366 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | TULP1-T67R | homozygous | 0.905 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | PRPH2-D338G | homozygous | 0.774 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests |
| 0.5 | PRPH2-R310K | homozygous | 0.931 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests |
| 0.5 | PRPH2-Q304E | homozygous | 0.774 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests |
| 0.5 | VTA1-L283Shift | het unknown | 0.008 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Frameshift |
| 0.5 | RSPH3-G518D | het unknown | 0.104 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 0.5 | RSPH3-E484K | het unknown | 0.021 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: 0.563 (possibly damaging) |
| 0.5 | RSPH3-R398Q | het unknown | 0.021 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.935 (probably damaging) |
| 0.5 | RSPH3-R213Q | het unknown | 0.104 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: 0.001 (benign) |
| 0.5 | TXNDC3-R43K | het unknown | 0.286 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | TXNDC3-C208R | homozygous | 0.787 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | DDC-P40L | het unknown | Unknown | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests | |
| 0.5 | DDC-M17V | homozygous | 0.993 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests |
| 0.5 | AKAP9-M463I | het unknown | 0.442 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: Unknown, Testable gene in GeneTests |
| 0.5 | AKAP9-K1335KQ | het unknown | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests | |
| 0.5 | AKAP9-N2792S | het unknown | 0.357 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: Unknown, Testable gene in GeneTests |
| 0.5 | AKAP9-P2979S | homozygous | 0.998 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: Unknown, Testable gene in GeneTests |
| 0.5 | GTF2I-N440S | het unknown | 0.031 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.98 (probably damaging) |
| 0.5 | GARS-P42A | homozygous | 0.744 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | HOXA1-R73H | homozygous | 0.728 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests |
| 0.5 | SLC22A2-S270A | homozygous | 0.881 | Unknown pharmacogenetic | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 0.5 | PMS2-K541E | homozygous | 0.874 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | PMS2-P470S | het unknown | 0.375 | Unknown benign | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: 0.006 (benign), Testable gene in GeneTests with associated GeneReview |
| 0.5 | DNAH11-E34L | het unknown | 0.368 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | DNAH11-V1023A | het unknown | 0.350 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | DNAH11-T1038A | homozygous | 0.816 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | DNAH11-A2018V | het unknown | Unknown | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview | |
| 0.5 | DNAH11-N2641S | homozygous | 0.529 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | DNAH11-R3004Q | het unknown | 0.014 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | DNAH11-A3474T | het unknown | 0.350 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | DNAH11-R3587H | het unknown | 0.011 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | DNAH11-V3715L | het unknown | 0.603 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | DNAH11-M4172V | homozygous | 0.718 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | DNAH11-T4177I | homozygous | 0.362 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | DFNA5-V207M | het unknown | 0.079 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.715 (possibly damaging), Testable gene in GeneTests |
| 0.5 | DFNA5-P142T | het unknown | 0.166 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: 0.292 (possibly damaging), Testable gene in GeneTests |
| 0.5 | NPY-L7P | het unknown | 0.028 | Unknown pharmacogenetic | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: 0.137 (benign) |
| 0.5 | HLA-DQA1-L8M | het unknown | 0.498 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | HLA-DQA1-V17M | het unknown | 0.050 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | HLA-DQA1-C34Y | het unknown | 0.450 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | HLA-DQA1-Q57E | homozygous | 0.265 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | HLA-DQA1-Q152H | het unknown | 0.407 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | HLA-DQA1-Q198E | het unknown | 0.390 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | NOTCH4-C815G | het unknown | 0.003 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.999 (probably damaging) |
| 0.5 | NOTCH4-K117Q | het unknown | 0.367 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 0.5 | NIPAL4-R213G | homozygous | 0.449 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.001 (benign), Testable gene in GeneTests with associated GeneReview |
| 0.5 | CYP3A7-R409T | homozygous | 0.762 | Unknown pharmacogenetic | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 0.5 | MSX2-M129T | homozygous | 0.753 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | HK3-G246D | het unknown | 0.017 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 1.0 (probably damaging) |
| 0.5 | KIF4B-R580L | het unknown | 0.781 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 0.5 | KIF4B-I834Shift | het unknown | 0.041 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Frameshift |
| 0.5 | SLC26A2-I574T | homozygous | 0.993 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | NR_027127-W61* | het unknown | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Nonsense mutation | |
| 0.5 | NDUFA2-G9P | het unknown | 0.008 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests |
| 0.5 | ZAN-L16F | het unknown | 0.012 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown |
| 0.5 | ZAN-A1873E | homozygous | 0.599 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 0.5 | ZAN-P1878S | homozygous | 0.599 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 0.5 | ZAN-R1922C | homozygous | 0.386 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 0.5 | ZAN-N2072S | homozygous | 0.415 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 0.5 | ZAN-F2344Shift | homozygous | 0.183 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 1 Frameshift |
| 0.5 | ZAN-W2429R | homozygous | 0.932 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 0.5 | ZAN-G2669A | homozygous | 0.563 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 0.5 | AK027578-G89* | het unknown | 0.008 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Nonsense mutation |
| 0.5 | ARAP3-T1428P | het unknown | 0.055 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: Unknown |
| 0.5 | ARAP3-P185H | het unknown | 0.025 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.992 (probably damaging) |
| 0.5 | F12-A207P | homozygous | 0.976 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests |
| 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 | HSPA1L-E602K | het unknown | 0.237 | Unknown pharmacogenetic | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: 0.001 (benign) |
| 0.5 | HSPA1L-T493M | homozygous | 0.873 | Unknown pharmacogenetic | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: 0.001 (benign) |
| 0.5 | SKIV2L-Q151R | het unknown | 0.120 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 0.5 | SKIV2L-M214L | homozygous | 0.778 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 0.5 | SKIV2L-V917M | het unknown | 0.022 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown |
| 0.5 | SKIV2L-A1071V | het unknown | 0.201 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 0.5 | ACN9-F53L | het unknown | 0.019 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 1.0 (probably damaging) |
| 0.5 | TNXB-P2731R | het unknown | 0.056 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | TNXB-R2704H | het unknown | 0.098 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | TNXB-G2518E | het unknown | 0.685 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | TNXB-P2412L | het unknown | 0.099 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | TNXB-T166P | het unknown | Unknown | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview | |
| 0.5 | MICA-L145V | het unknown | 0.174 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 0.5 | MICA-V152M | het unknown | 0.314 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 0.5 | MICA-E196K | het unknown | 0.314 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 0.5 | MICA-G198S | het unknown | 0.258 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 0.5 | MICA-T204R | het unknown | 0.106 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 0.5 | MICA-S229G | het unknown | 0.261 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 0.5 | MICA-R233W | het unknown | 0.259 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: Unknown |
| 0.5 | MICA-I236T | homozygous | 0.466 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 0.5 | MICA-T238S | het unknown | 0.288 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 0.5 | MICA-R274Q | homozygous | 0.478 | Unknown pharmacogenetic | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 0.5 | MICA-G318Shift | het unknown | 0.163 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 1 Frameshift |
| 0.5 | MDC1-R1883Q | het unknown | 0.014 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: 0.997 (probably damaging) |
| 0.5 | SIRT5-E305G | het unknown | 0.038 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.861 (probably damaging) |
| 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 | TRIM38-R53S | het unknown | 0.006 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: 0.002 (benign) |
| 0.5 | TRIM38-P463Q | het unknown | 0.001 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.989 (probably damaging) |
| 0.5 | HLA-L-H17R | het unknown | 0.260 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 0.5 | HLA-L-I30V | het unknown | 0.261 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 0.5 | HLA-L-R38Shift | het unknown | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Frameshift | |
| 0.5 | HLA-L-A142V | het unknown | 0.261 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 0.5 | HLA-L-W144* | het unknown | 0.258 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 1 Nonsense mutation |
| 0.5 | HLA-L-C172Y | het unknown | 0.253 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 0.5 | HLA-H-D19Y | het unknown | Unknown | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview | |
| 0.5 | HLA-H-Q61R | het unknown | 0.288 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | HLA-H-R141V | het unknown | 0.021 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | HLA-H-C238S | het unknown | 0.729 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | ADH1B-H48R | homozygous | 0.963 | Unknown pharmacogenetic | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 0.5 | CHD6-R2389C | het unknown | 0.007 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.999 (probably damaging) |
| 0.5 | ALS2-V368M | homozygous | 0.859 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | CPO-M85I | homozygous | 0.443 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.196 (benign), Testable gene in GeneTests |
| 0.5 | CPO-S134R | homozygous | 0.493 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests |
| 0.5 | COL3A1-H1353Q | homozygous | 0.994 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | TTN-I23649T | het unknown | 0.224 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | TTN-A19840P | homozygous | 0.996 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | TTN-R9852H | het unknown | 0.224 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | TTN-G9378R | het unknown | 0.431 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | TTN-S3419N | homozygous | 0.899 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | TTN-V3261M | homozygous | 0.893 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | TTN-S1295L | homozygous | 0.950 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | TTN-K1201E | homozygous | 0.731 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | TTN-T811I | het unknown | 0.186 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | SCN1A-A1056T | homozygous | 0.724 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | ABCB11-V444A | homozygous | 0.603 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: 0.002 (benign), Testable gene in GeneTests with associated GeneReview |
| 0.5 | PRODH-R521Q | homozygous | 0.904 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests |
| 0.5 | PRODH-V427M | het unknown | 0.037 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests |
| 0.5 | PRODH-T275N | het unknown | 0.031 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests |
| 0.5 | PRODH-W185R | homozygous | 0.675 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: Unknown, Testable gene in GeneTests |
| 0.5 | PRODH-P30S | het unknown | 0.097 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests |
| 0.5 | PRODH-P19Q | het unknown | 0.345 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests |
| 0.5 | SPAG16-D56N | het unknown | 0.015 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: 0.665 (possibly damaging) |
| 0.5 | SPAG16-S356N | het unknown | 0.015 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.899 (probably damaging) |
| 0.5 | ABCA12-S777T | homozygous | 0.998 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | SIGLEC1-A974V | homozygous | 0.486 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: 0.011 (benign) |
| 0.5 | SIGLEC1-H919P | homozygous | 0.666 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 0.5 | SIGLEC1-R464H | het unknown | 0.051 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 1.0 (probably damaging) |
| 0.5 | SIGLEC1-K239R | homozygous | 0.616 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: 0.001 (benign) |
| 0.5 | SIGLEC1-V221M | homozygous | 0.637 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: 0.03 (benign) |
| 0.5 | ESCO2-A80V | het unknown | 0.099 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | LPIN3-R61W | het unknown | 0.030 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: 1.0 (probably damaging) |
| 0.5 | DEFB126-P106Shift | het unknown | 0.023 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Frameshift |
| 0.5 | AGXT-P11L | het unknown | 0.153 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 4 Polyphen 2: 0.997 (probably damaging), Testable gene in GeneTests with associated GeneReview |
| 0.5 | AGXT-I340M | het unknown | 0.157 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | OBSL1-R1767Q | homozygous | 0.420 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | OBSL1-Q1578R | homozygous | 0.962 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | OBSL1-E1365D | homozygous | 0.702 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | OBSL1-R723K | homozygous | 0.827 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | COL4A3-G43R | homozygous | 0.353 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | COL4A3-L141P | het unknown | 0.774 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | COL4A3-E162G | het unknown | 0.774 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | COL4A3-D326Y | het unknown | 0.169 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | COL4A3-P574L | het unknown | 0.385 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | COL6A3-T3069I | homozygous | 0.362 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | COL6A3-A3012P | homozygous | 0.835 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | COL6A3-M2927T | homozygous | 0.700 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | COL6A3-L411V | het unknown | Unknown | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview | |
| 0.5 | NEB-I6534V | het unknown | 0.422 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | NEB-A6277P | homozygous | 0.631 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | NEB-R4389T | homozygous | 0.648 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | NEB-W3348C | het unknown | 0.270 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | NEB-K2613N | het unknown | 0.351 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | NEB-V1491M | homozygous | 0.660 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | NEB-Y1301H | homozygous | 0.820 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | NEB-K1027N | homozygous | 0.701 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | LCT-N1639S | homozygous | 0.612 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests |
| 0.5 | LCT-I362V | homozygous | 0.977 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests |
| 0.5 | PRKDC-L1243Shift | homozygous | 0.156 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 1 Frameshift |
| 0.5 | PRKDC-M333I | het unknown | 0.032 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown |
| 0.5 | OTOF-A1083P | het unknown | 0.018 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | OTOF-R822W | het unknown | 0.018 | Unknown benign | Insufficiently evaluated | Prioritization score: 4 Polyphen 2: 0.914 (probably damaging), Testable gene in GeneTests with associated GeneReview |
| 0.5 | OTOF-V575M | het unknown | Unknown | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview | |
| 0.5 | C2orf71-S1225SS | het unknown | Unknown | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests | |
| 0.5 | C2orf71-L792V | het unknown | Unknown | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests | |
| 0.5 | ITSN2-A1534T | het unknown | 0.181 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: 0.004 (benign) |
| 0.5 | ITSN2-R1337W | het unknown | 0.030 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 1.0 (probably damaging) |
| 0.5 | ITSN2-V291I | het unknown | 0.365 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 0.5 | HS1BP3-A388T | het unknown | 0.183 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: 0.012 (benign) |
| 0.5 | HS1BP3-P348R | het unknown | 0.033 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.916 (probably damaging) |
| 0.5 | HS1BP3-V260M | homozygous | 0.491 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 0.5 | ZIM3-K438* | het unknown | 0.015 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Nonsense mutation |
| 0.5 | ZIM3-I379V | homozygous | 0.456 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: 0.651 (possibly damaging) |
| 0.5 | ZIM3-N157D | homozygous | 0.669 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 0.5 | ZIM3-L69M | homozygous | 0.454 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: 0.05 (benign) |
| 0.5 | AK094748-D110A | het unknown | 0.049 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: Unknown |
| 0.5 | AK094748-S209Shift | het unknown | 0.019 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Frameshift |
| 0.5 | TPO-A257S | homozygous | 0.381 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests |
| 0.5 | TPO-T725P | homozygous | 0.470 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests |
| 0.5 | TPO-V847A | homozygous | 0.612 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.001 (benign), Testable gene in GeneTests |
| 0.5 | ALK-I1461V | homozygous | 0.989 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | CYP1B1-V432L | het unknown | 0.445 | Unknown pharmacogenetic | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | CYP1B1-A119S | het unknown | 0.339 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | CYP1B1-R48G | het unknown | 0.349 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | RANBP2-L272F | het unknown | Unknown | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests | |
| 0.5 | RANBP2-I2585T | het unknown | Unknown | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests | |
| 0.5 | MERTK-S118N | homozygous | 0.223 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests |
| 0.5 | MERTK-R466K | homozygous | 0.635 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests |
| 0.5 | MERTK-I518V | homozygous | 0.635 | Unknown not reviewed | 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 | RGPD4-D761G | het unknown | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown | |
| 0.5 | RGPD4-Q1169R | het unknown | 0.041 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown |
| 0.5 | RGPD4-T1410R | het unknown | Unknown | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: Unknown | |
| 0.5 | EIF2AK3-A704S | homozygous | 0.802 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests |
| 0.5 | EIF2AK3-Q166R | homozygous | 0.732 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests |
| 0.5 | ABCG8-Y54C | het unknown | 0.318 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.01 (benign), Testable gene in GeneTests |
| 0.5 | ABCG8-T400K | het unknown | 0.220 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.157 (benign), Testable gene in GeneTests |
| 0.5 | ABCG8-V632A | homozygous | 0.839 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests |
| 0.5 | SLC3A1-M618I | homozygous | 0.542 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.003 (benign), Testable gene in GeneTests |
| 0.5 | LHCGR-N312S | homozygous | 0.490 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests |
| 0.5 | LRP2-I4210L | homozygous | 0.602 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.993 (probably damaging) |
| 0.5 | LRP2-K4094E | homozygous | 0.799 | Unknown pharmacogenetic | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: Unknown |
| 0.5 | LRP2-N83S | homozygous | 0.341 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: 0.001 (benign) |
| 0.5 | KCNQ2-N780T | homozygous | 0.597 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | SLC19A1-H27R | homozygous | 0.504 | Unknown pharmacogenetic | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: 0.002 (benign) |
| 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 | CHRNA2-T125A | homozygous | 0.580 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | CHRNA2-T22I | het unknown | 0.148 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | CBR3-C4Y | homozygous | 0.368 | Unknown pharmacogenetic | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: 0.002 (benign) |
| 0.5 | SALL4-L507R | het unknown | 0.281 | Dominant not reviewed | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: 0.125 (benign), Testable gene in GeneTests with associated GeneReview |
| 0.5 | SYCP2-M1003T | het unknown | 0.023 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: Unknown |
| 0.5 | SYCP2-T751I | het unknown | 0.022 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: 0.986 (probably damaging) |
| 0.5 | ZNF334-R275C | het unknown | 0.013 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.988 (probably damaging) |
| 0.5 | KCNE1-S38G | homozygous | 0.658 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: 0.003 (benign), Testable gene in GeneTests with associated GeneReview |
| 0.5 | COL6A2-S399N | het unknown | 0.730 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | COL6A2-R680H | het unknown | 0.413 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 4 Polyphen 2: 0.999 (probably damaging), Testable gene in GeneTests with associated GeneReview |
| 0.5 | GTSF1L-L56V | het unknown | 0.022 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.967 (probably damaging) |
| 0.375 | FLG-E2976D | het unknown | 0.268 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.375 | FLG-E665K | het unknown | Unknown | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview | |
| 0.375 | GSTP1-I105V | het unknown | 0.360 | Recessive pharmacogenetic | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 0.375 | GSTP1-A114V | het unknown | 0.062 | Recessive pharmacogenetic | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: 0.018 (benign) |
| 0.375 | SRA1-G150E | het unknown | Unknown | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview | |
| 0.375 | SRA1-V110RL | het unknown | 0.360 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.375 | DSG2-E693D | het unknown | Unknown | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview | |
| 0.375 | DSG2-R773K | het unknown | 0.194 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.003 (benign), Testable gene in GeneTests with associated GeneReview |
| 0.375 | DOK7-P61T | het unknown | Unknown | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview | |
| 0.375 | DOK7-P61T | het unknown | Unknown | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview | |
| 0.375 | DOK7-G461D | het unknown | 0.160 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.565 (possibly damaging), Testable gene in GeneTests with associated GeneReview |
| 0.25 | CCND3-S259A | homozygous | 0.625 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 0.25 | CCND3-G16Shift | het unknown | Unknown | Insufficiently evaluated | Prioritization score: 2 Frameshift | |
| 0.25 | NAT2-I114T | het unknown | 0.398 | Recessive pharmacogenetic | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 0.25 | NAT2-R197Q | het unknown | 0.282 | Recessive pharmacogenetic | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 0.25 | NAT2-R268K | het unknown | 0.581 | Unknown pharmacogenetic | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 0.25 | GNPAT-D519G | het unknown | 0.168 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.025 (benign), Testable gene in GeneTests |
| 0.25 | PALB2-E672Q | het unknown | 0.024 | Unknown benign | Insufficiently evaluated | Prioritization score: 5 Polyphen 2: 0.952 (probably damaging), Testable gene in GeneTests with associated GeneReview |
| 0.25 | PALB2-Q559R | het unknown | 0.135 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.25 | COL9A1-S339P | het unknown | 0.479 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.25 | HTR2C-C23S | het unknown | 0.233 | Unknown pharmacogenetic | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: 0.004 (benign) |
| 0.25 | SH2B1-T484A | het unknown | 0.343 | Unknown pharmacogenetic | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 0.25 | FANCA-T266A | het unknown | 0.508 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: 0.778 (possibly damaging), Testable gene in GeneTests with associated GeneReview |
| 0.25 | DISP1-E103N | het unknown | 0.242 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 0.25 | DISP1-F667Shift | het unknown | Unknown | Insufficiently evaluated | Prioritization score: 2 Frameshift | |
| 0.25 | CPT1B-E531K | homozygous | 0.348 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: 0.303 (possibly damaging) |
| 0.25 | CPT1B-Q93* | het unknown | Unknown | Insufficiently evaluated | Prioritization score: 2 Nonsense mutation | |
| 0.25 | KIF6-W719R | het unknown | 0.507 | Unknown pharmacogenetic | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: 0.01 (benign) |
| 0.25 | MUT-I671V | het unknown | 0.608 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.25 | MUT-A499T | het unknown | 0.105 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.25 | TGFB1-P10L | het unknown | 0.648 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.25 | EYS-L1873V | het unknown | 0.116 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: Unknown, Testable gene in GeneTests |
| 0.25 | EYS-S1517G | het unknown | 0.119 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: Unknown, Testable gene in GeneTests |
| 0.25 | EYS-R1515W | het unknown | 0.119 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: Unknown, Testable gene in GeneTests |
| 0.25 | EYS-I1451T | het unknown | 0.119 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: Unknown, Testable gene in GeneTests |
| 0.25 | EYS-L1419S | het unknown | 0.759 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: Unknown, Testable gene in GeneTests |
| 0.25 | EYS-I1361V | het unknown | 0.119 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: Unknown, Testable gene in GeneTests |
| 0.25 | EYS-Q1325E | het unknown | 0.119 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: Unknown, Testable gene in GeneTests |
| 0.25 | EYS-I1263V | het unknown | 0.118 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: Unknown, Testable gene in GeneTests |
| 0.25 | EYS-L852P | het unknown | 0.642 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: Unknown, Testable gene in GeneTests |
| 0.25 | EYS-T120M | het unknown | 0.156 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests |
| 0.25 | CCDC123-K282* | het unknown | Unknown | Insufficiently evaluated | Prioritization score: 2 Nonsense mutation | |
| 0.25 | CCDC123-R194W | homozygous | 0.200 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: 0.512 (possibly damaging) |
| 0.25 | CCDC123-S153G | het unknown | 0.455 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 0.25 | CCDC123-R146Q | het unknown | 0.268 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: 0.004 (benign) |
| 0.25 | MYH11-A1241T | het unknown | 0.207 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.25 | TMPRSS3-I253V | het unknown | 0.164 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests |
| 0.25 | TMPRSS3-G111S | homozygous | 0.133 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: Unknown, Testable gene in GeneTests |
| 0.25 | SLC9A4-G784S | het unknown | 0.634 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 0.25 | SLC9A4-*799Shift | het unknown | Unknown | Insufficiently evaluated | Prioritization score: 2 Frameshift | |
| 0.25 | ANKRD36-K5Shift | het unknown | Unknown | Insufficiently evaluated | Prioritization score: 2 Frameshift | |
| 0.25 | ANKRD36-P1126Q | homozygous | 0.865 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 0.25 | ANKRD36-M1144T | het unknown | 0.429 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 0.25 | ANKRD36-V1157M | het unknown | 0.365 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 0.25 | CALHM1-L86P | het unknown | 0.798 | Unknown pharmacogenetic | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 0.25 | TFAP4-Q218H | het unknown | 0.598 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 0.25 | TFAP4-Q201Shift | het unknown | Unknown | Insufficiently evaluated | Prioritization score: 2 Frameshift | |
| 0.25 | TFAP4-Q199V | het unknown | Unknown | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: Unknown | |
| 0.25 | ATXN1-P753S | het unknown | 0.146 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.25 | ATRX-Q929E | het unknown | 0.509 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.25 | ALDH5A1-H180Y | het unknown | 0.374 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.25 | NRAP-R1566C | homozygous | 0.368 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: 0.853 (probably damaging) |
| 0.25 | NRAP-L1531P | het unknown | 0.100 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.928 (probably damaging) |
| 0.25 | NRAP-A674V | het unknown | 0.275 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 0.25 | NRAP-S490L | het unknown | 0.249 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: 0.092 (benign) |
| 0.25 | NRAP-Q360R | homozygous | 0.525 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 0.25 | NRAP-A344T | homozygous | 0.525 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 0.25 | NRAP-Y249C | het unknown | 0.208 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: 0.999 (probably damaging) |
| 0.25 | NRAP-V208A | homozygous | 0.869 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 0.25 | ANXA11-R230C | het unknown | 0.341 | Unknown pharmacogenetic | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: 1.0 (probably damaging) |
| 0.25 | USP54-G770Shift | het unknown | Unknown | Insufficiently evaluated | Prioritization score: 2 Frameshift | |
| 0.25 | USP54-K769A | het unknown | Unknown | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: Unknown | |
| 0.25 | USP54-R642W | het unknown | 0.002 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: Unknown |
| 0.25 | ALMS1-S524SP | het unknown | 0.578 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.25 | ALMS1-V671G | het unknown | 0.881 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.25 | ALMS1-S2574N | het unknown | 0.120 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.25 | ALMS1-D2672H | het unknown | 0.129 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.25 | ALMS1-R4029K | het unknown | 0.540 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.25 | CFHR1-H157Y | het unknown | 0.305 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.25 | CFHR1-L159V | het unknown | 0.288 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.25 | MCEE-R104L | het unknown | 0.189 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.003 (benign), Testable gene in GeneTests with associated GeneReview |
| 0.25 | MCEE-A76V | het unknown | 0.268 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.25 | FSHR-S680N | het unknown | 0.556 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests |
| 0.25 | FSHR-A307T | het unknown | 0.451 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests |
| 0.25 | GGCX-R325Q | het unknown | 0.420 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.003 (benign), Testable gene in GeneTests |
| 0.25 | C19orf50-P157A | het unknown | Unknown | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: Unknown | |
| 0.25 | C19orf50-D170Shift | het unknown | Unknown | Insufficiently evaluated | Prioritization score: 2 Frameshift | |
| 0.25 | LITAF-I92V | het unknown | 0.164 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.25 | KIAA1279-G66S | het unknown | 0.433 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: 0.293 (possibly damaging), Testable gene in GeneTests |
| 0.25 | KIAA1279-P180Del | het unknown | Unknown | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests | |
| 0.25 | PCDH15-R934Q | het unknown | 0.209 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.25 | IL12RB1-G378R | het unknown | 0.268 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.001 (benign), Testable gene in GeneTests |
| 0.25 | IL12RB1-M365T | het unknown | 0.289 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests |
| 0.25 | IL12RB1-Q214R | het unknown | 0.251 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests |
| 0.25 | IL12RB1-R156H | het unknown | 0.125 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.029 (benign), Testable gene in GeneTests |
| 0.25 | SLC22A16-H49R | het unknown | 0.271 | Unknown pharmacogenetic | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 0.25 | ZNF224-M118V | het unknown | 0.872 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 0.25 | ZNF224-H162L | het unknown | 0.879 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: 0.262 (possibly damaging) |
| 0.25 | ZNF224-K640E | het unknown | 0.713 | Unknown pharmacogenetic | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 0.25 | CNGB3-T298P | het unknown | 0.643 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: 0.007 (benign), Testable gene in GeneTests with associated GeneReview |
| 0.25 | CNGB3-C234W | het unknown | 0.880 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.25 | LDLRAP1-S202P | het unknown | 0.469 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.803 (possibly damaging), Testable gene in GeneTests |
| 0.25 | OPN1LW-S180A | het unknown | 0.126 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: 0.001 (benign), Testable gene in GeneTests with associated GeneReview |
| 0.25 | FPR1-E346A | homozygous | 0.799 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 0.25 | FPR1-N192K | het unknown | 0.434 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 0.25 | FPR1-V101L | het unknown | 0.342 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 0.25 | FPR1-I11T | het unknown | 0.773 | Unknown pharmacogenetic | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 0.25 | KCNQ4-H455Q | het unknown | 0.174 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: 0.191 (benign), Testable gene in GeneTests with associated GeneReview |
| 0.25 | LRP8-R952Q | het unknown | 0.290 | Unknown pharmacogenetic | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 0.25 | GLI3-T183A | het unknown | 0.666 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.25 | FAAH-P129T | het unknown | 0.256 | Unknown pharmacogenetic | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: 0.001 (benign) |
| 0.25 | CCM2-V120I | het unknown | 0.135 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.001 (benign), Testable gene in GeneTests with associated GeneReview |
| 0.25 | HSPG2-A1503V | homozygous | 0.694 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: Unknown, Testable gene in GeneTests |
| 0.25 | HSPG2-N765S | homozygous | 0.933 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: Unknown, Testable gene in GeneTests |
| 0.25 | HSPG2-M638V | homozygous | 0.974 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: Unknown, Testable gene in GeneTests |
| 0.25 | HSPG2-R420Q | het unknown | Unknown | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests | |
| 0.25 | ZNF138-G93E | het unknown | 0.363 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 0.25 | ZNF138-F98Y | homozygous | 0.981 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 0.25 | ZNF138-Q208* | het unknown | Unknown | Insufficiently evaluated | Prioritization score: 2 Nonsense mutation | |
| 0.25 | ELN-G422S | het unknown | 0.332 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.25 | RNF207-N573S | het unknown | 0.452 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 0.25 | RNF207-G603A | het unknown | 0.199 | Unknown pharmacogenetic | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: 0.006 (benign) |
| 0.25 | SFTPC-T138N | het unknown | 0.209 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.25 | SFTPC-S186N | het unknown | 0.261 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.25 | ABCB1-S893A | het unknown | 0.683 | Unknown pharmacogenetic | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 0.25 | CLCNKA-Y315F | het unknown | 0.187 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests |
| 0.25 | CDA-K27Q | het unknown | 0.262 | Unknown pharmacogenetic | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 0.25 | ERV3-N566S | homozygous | 0.918 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 0.25 | ERV3-N478S | homozygous | 0.925 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 0.25 | ERV3-R220* | het unknown | Unknown | Insufficiently evaluated | Prioritization score: 2 Nonsense mutation | |
| 0.25 | ERV3-C189Y | het unknown | 0.480 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 0.25 | ERV3-T87I | homozygous | 0.916 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 0.25 | F8-D1260E | het unknown | 0.347 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.25 | CLCNKB-R27L | het unknown | 0.523 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: Unknown, Testable gene in GeneTests |
| 0.25 | CLCNKB-A214G | het unknown | 0.638 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: Unknown, Testable gene in GeneTests |
| 0.25 | CLCNKB-A287V | het unknown | 0.811 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: Unknown, Testable gene in GeneTests |
| 0.25 | CLCNKB-M562T | het unknown | 0.889 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests |
| 0.25 | CLCNKB-K578E | het unknown | 0.704 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: Unknown, Testable gene in GeneTests |
| 0.25 | LRRC50-K393R | het unknown | 0.378 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.683 (possibly damaging), Testable gene in GeneTests with associated GeneReview |
| 0.25 | LRRC50-P502L | het unknown | 0.301 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.005 (benign), Testable gene in GeneTests with associated GeneReview |
| 0.25 | LRRC50-L633S | het unknown | 0.273 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.25 | LRRC50-L659P | het unknown | 0.270 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.25 | LRRC50-S675T | het unknown | 0.274 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.001 (benign), Testable gene in GeneTests with associated GeneReview |
| 0.25 | CNGB1-R916H | het unknown | Unknown | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests | |
| 0.25 | CNGB1-R100H | homozygous | 0.757 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: Unknown, Testable gene in GeneTests |
| 0.25 | COL1A2-P549A | het unknown | 0.798 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.25 | FMO2-S195L | het unknown | 0.384 | Unknown pharmacogenetic | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 0.25 | XIAP-Q423P | het unknown | 0.401 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: 0.053 (benign), Testable gene in GeneTests with associated GeneReview |
| 0.25 | LHX4-N328S | het unknown | 0.406 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests |
| 0.25 | GCKR-L446P | het unknown | 0.679 | Unknown pharmacogenetic | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 0.25 | HMCN1-I2418T | het unknown | 0.525 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: 0.468 (possibly damaging), Testable gene in GeneTests |
| 0.25 | HMCN1-E2893G | het unknown | 0.554 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.91 (probably damaging), Testable gene in GeneTests |
| 0.25 | HMCN1-Q4437R | het unknown | 0.372 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.997 (probably damaging), Testable gene in GeneTests |
| 0.25 | NCF2-K181R | het unknown | 0.433 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests |
| 0.25 | GLI2-A1156S | het unknown | 0.626 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.25 | GLI2-D1306N | het unknown | 0.678 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.25 | BCLAF1-R522* | het unknown | Unknown | Insufficiently evaluated | Prioritization score: 2 Nonsense mutation | |
| 0.25 | BCLAF1-S209C | het unknown | 0.500 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: 0.96 (probably damaging) |
| 0.25 | BCLAF1-G66A | het unknown | 0.500 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 0.25 | SCO2-R20P | het unknown | 0.629 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests |
| 0.25 | SOD2-V16A | het unknown | 0.476 | Unknown pharmacogenetic | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 0.25 | RP1-R872H | het unknown | 0.235 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.001 (benign), Testable gene in GeneTests |
| 0.25 | RP1-N985Y | het unknown | 0.349 | Unknown benign | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: 0.958 (probably damaging), Testable gene in GeneTests |
| 0.25 | RP1-A1670T | het unknown | 0.204 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.001 (benign), Testable gene in GeneTests |
| 0.25 | RP1-S1691P | het unknown | 0.248 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests |
| 0.25 | RP1-C2033Y | het unknown | 0.314 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: 0.957 (probably damaging), Testable gene in GeneTests |
| 0.25 | ABCA4-R943Q | homozygous | 0.032 | Unknown benign | Insufficiently evaluated | Prioritization score: 4 Polyphen 2: 0.922 (probably damaging), Testable gene in GeneTests |
| 0.25 | ABCA4-H423R | het unknown | 0.258 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests |
| 0.25 | MYH14-P31T | het unknown | 0.109 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: Unknown, Testable gene in GeneTests |
| 0.25 | MYH14-D541N | het unknown | Unknown | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests | |
| 0.25 | BAAT-R201P | het unknown | 0.169 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: Unknown, Testable gene in GeneTests |
| 0.25 | BAAT-R20Q | het unknown | 0.627 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.136 (benign), Testable gene in GeneTests |
| 0.25 | NM_001145710-E38Q | het unknown | 0.121 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 0.25 | NM_001145710-K320* | het unknown | Unknown | Insufficiently evaluated | Prioritization score: 2 Nonsense mutation | |
| 0.25 | FAM20C-I320Shift | het unknown | Unknown | Insufficiently evaluated | Prioritization score: 2 Frameshift | |
| 0.25 | FAM20C-N564D | het unknown | 0.491 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 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 | GBA-R140W | het unknown | 0.357 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.25 | PLG-D472N | het unknown | 0.261 | Unknown pharmacogenetic | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 0.25 | PLG-Q720R | het unknown | Unknown | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: Unknown | |
| 0.25 | NOTCH2-P210L | het unknown | 0.333 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.25 | PARK2-V380L | het unknown | 0.178 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.25 | GRM6-Q59P | het unknown | 0.616 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests |
| 0.25 | MLL3-P2412T | het unknown | 0.020 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: Unknown |
| 0.25 | MLL3-R1092* | het unknown | Unknown | Insufficiently evaluated | Prioritization score: 2 Nonsense mutation | |
| 0.25 | MLL3-L291F | het unknown | 0.500 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: 0.96 (probably damaging) |
| 0.25 | RAB11FIP1-M1185T | het unknown | 0.742 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 0.25 | RAB11FIP1-A1130Shift | het unknown | Unknown | Insufficiently evaluated | Prioritization score: 2 Frameshift | |
| 0.25 | RAB11FIP1-A651V | het unknown | 0.608 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 0.25 | RAB11FIP1-Q622K | het unknown | 0.391 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 0.25 | TPTE2P1-G96Shift | het unknown | Unknown | Insufficiently evaluated | Prioritization score: 2 Frameshift | |
| 0.25 | TPTE2P1-Q15H | het unknown | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: Unknown | |
| 0.25 | CENPJ-S879A | het unknown | 0.106 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: 0.002 (benign), Testable gene in GeneTests with associated GeneReview |
| 0.25 | CENPJ-P85T | het unknown | 0.106 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: 0.021 (benign), Testable gene in GeneTests with associated GeneReview |
| 0.25 | FREM2-S745P | homozygous | 1.000 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: Unknown, Testable gene in GeneTests |
| 0.25 | FREM2-F1070S | het unknown | 0.438 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests |
| 0.25 | FREM2-T2326I | het unknown | 0.726 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests |
| 0.25 | AK298931-E88Q | het unknown | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: Unknown | |
| 0.25 | AK298931-W38* | het unknown | Unknown | Insufficiently evaluated | Prioritization score: 2 Nonsense mutation | |
| 0.25 | AK298931-T4S | het unknown | Unknown | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: Unknown | |
| 0.25 | IRS2-G1057D | het unknown | 0.233 | Unknown protective | Low clinical importance, uncertain | 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). |
| 0.25 | C13orf40-K6544E | het unknown | Unknown | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: Unknown | |
| 0.25 | C13orf40-R6075C | het unknown | Unknown | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: Unknown | |
| 0.25 | C13orf40-L6011P | homozygous | Unknown | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: Unknown | |
| 0.25 | C13orf40-F5916L | homozygous | Unknown | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: Unknown | |
| 0.25 | C13orf40-N5750S | homozygous | Unknown | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: Unknown | |
| 0.25 | C13orf40-R5644T | homozygous | Unknown | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: Unknown | |
| 0.25 | C13orf40-S4943P | homozygous | Unknown | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: Unknown | |
| 0.25 | C13orf40-V3805I | homozygous | Unknown | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: Unknown | |
| 0.25 | C13orf40-T3015I | homozygous | Unknown | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: Unknown | |
| 0.25 | C13orf40-T2812P | homozygous | Unknown | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: Unknown | |
| 0.25 | C13orf40-G2410R | homozygous | Unknown | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: Unknown | |
| 0.25 | C13orf40-E2111Q | homozygous | Unknown | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: Unknown | |
| 0.25 | C13orf40-A1822P | homozygous | Unknown | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: Unknown | |
| 0.25 | C13orf40-C1275* | het unknown | Unknown | Insufficiently evaluated | Prioritization score: 2 Nonsense mutation | |
| 0.25 | C13orf40-P1096T | het unknown | Unknown | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: Unknown | |
| 0.25 | C13orf40-P773L | homozygous | Unknown | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: Unknown | |
| 0.25 | C13orf40-I96V | het unknown | Unknown | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: Unknown | |
| 0.25 | C13orf40-C82S | het unknown | Unknown | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: Unknown | |
| 0.25 | ATP7B-V1140A | het unknown | 0.585 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.25 | ATP7B-R952K | het unknown | 0.575 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.25 | ATP7B-K832R | het unknown | 0.555 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: 0.461 (possibly damaging), Testable gene in GeneTests with associated GeneReview |
| 0.25 | ATP7B-V456L | het unknown | 0.405 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: 0.006 (benign), Testable gene in GeneTests with associated GeneReview |
| 0.25 | ATP7B-S406A | het unknown | 0.401 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: 0.001 (benign), Testable gene in GeneTests with associated GeneReview |
| 0.25 | SUCLA2-S199T | het unknown | 0.741 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.25 | SCN4A-N1376D | het unknown | 0.602 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.25 | SCN4A-S524G | het unknown | 0.916 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.25 | COL4A4-S1400P | het unknown | 0.469 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.25 | COL4A4-V1327M | het unknown | 0.445 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.25 | COL4A4-P1004L | het unknown | 0.516 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.25 | COL4A4-P482S | het unknown | 0.499 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.25 | TCHP-K127R | het unknown | 0.306 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 0.25 | TCHP-L220Shift | het unknown | Unknown | Insufficiently evaluated | Prioritization score: 2 Frameshift | |
| 0.25 | CPS1-T344A | het unknown | 0.597 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: 0.302 (possibly damaging), Testable gene in GeneTests with associated GeneReview |
| 0.25 | DSP-R1738Q | het unknown | 0.199 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: 0.295 (possibly damaging), Testable gene in GeneTests with associated GeneReview |
| 0.25 | SH2B3-W262R | het unknown | 0.634 | Unknown pharmacogenetic | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 0.25 | MYH13-M1071V | het unknown | 0.642 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: 0.025 (benign) |
| 0.25 | MYH13-I523Shift | het unknown | Unknown | Insufficiently evaluated | Prioritization score: 2 Frameshift | |
| 0.25 | MYH3-A1759AKKA | het unknown | Unknown | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests | |
| 0.25 | MYH3-A1192T | het unknown | 0.716 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: Unknown, Testable gene in GeneTests |
| 0.25 | COG1-N392S | het unknown | 0.530 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.25 | TLR3-L412F | het unknown | 0.213 | Unknown pharmacogenetic | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: 0.991 (probably damaging) |
| 0.25 | MYH15-T1125A | het unknown | 0.242 | Unknown pharmacogenetic | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: 0.007 (benign) |
| 0.25 | MYH15-H504Y | homozygous | 0.715 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: 0.997 (probably damaging) |
| 0.25 | MYH15-R454Q | het unknown | 0.220 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: 0.999 (probably damaging) |
| 0.25 | LAMA5-R3079W | homozygous | 0.624 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 0.25 | LAMA5-D2062N | homozygous | 0.425 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: 0.551 (possibly damaging) |
| 0.25 | LAMA5-R2053H | het unknown | 0.148 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: 0.034 (benign) |
| 0.25 | LAMA5-V1900M | homozygous | 0.644 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 0.25 | LAMA5-F1807S | homozygous | 0.914 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 0.25 | LAMA5-K1367E | homozygous | 0.930 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 0.25 | LAMA5-M1258T | homozygous | 0.804 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 0.25 | LAMA5-T956A | homozygous | 0.745 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 0.25 | LAMA5-T401A | homozygous | 0.875 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: 0.184 (benign) |
| 0.25 | LAMA5-S352Shift | het unknown | Unknown | Insufficiently evaluated | Prioritization score: 2 Frameshift | |
| 0.25 | IQCB1-C434Y | het unknown | 0.235 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.999 (probably damaging), Testable gene in GeneTests |
| 0.25 | TLR1-S602I | het unknown | 0.485 | Unknown pharmacogenetic | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 0.25 | TLR1-N248S | het unknown | 0.434 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: 0.001 (benign) |
| 0.25 | TLR6-S249P | het unknown | 0.695 | Unknown pharmacogenetic | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 0.25 | AKAP5-A51Shift | het unknown | Unknown | Insufficiently evaluated | Prioritization score: 2 Frameshift | |
| 0.25 | AKAP5-T203I | homozygous | 0.977 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 0.25 | KRT10-H487Y | homozygous | 0.841 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: Unknown, Testable gene in GeneTests |
| 0.25 | KRT10-G126S | het unknown | 0.183 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests |
| 0.25 | KRT10-I101S | homozygous | 0.999 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: Unknown, Testable gene in GeneTests |
| 0.25 | WFS1-V333I | het unknown | 0.800 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.25 | WFS1-R611H | het unknown | 0.400 | Recessive not reviewed | Insufficiently evaluated | Prioritization score: 4 Polyphen 2: 0.99 (probably damaging), Testable gene in GeneTests with associated GeneReview |
| 0.25 | CPN2-V536M | het unknown | 0.248 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: 0.935 (probably damaging), Testable gene in GeneTests |
| 0.25 | CPN2-Q509R | homozygous | 0.827 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: Unknown, Testable gene in GeneTests |
| 0.25 | CPN2-A305T | het unknown | 0.326 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.005 (benign), Testable gene in GeneTests |
| 0.25 | TBC1D3F-R481RVR | het unknown | Unknown | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: Unknown | |
| 0.25 | TBC1D3F-I483Shift | het unknown | Unknown | Insufficiently evaluated | Prioritization score: 2 Frameshift | |
| 0.25 | THBD-A473V | het unknown | 0.140 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.25 | SPATA7-D2N | het unknown | 0.290 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.665 (possibly damaging), Testable gene in GeneTests with associated GeneReview |
| 0.25 | MTHFD1-K134R | homozygous | 0.831 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 0.25 | MTHFD1-R653Q | het unknown | 0.376 | Unknown pharmacogenetic | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: 0.008 (benign) |
| 0.25 | PANK2-G126A | het unknown | 0.940 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.25 | PCK1-V184L | het unknown | 0.903 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests |
| 0.25 | MAPT-Y441H | het unknown | 0.178 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.25 | BANK1-A383T | het unknown | 0.295 | Unknown pharmacogenetic | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: 0.778 (possibly damaging) |
| 0.25 | BANK1-C650R | homozygous | 0.991 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 0.25 | UGT2B7-Y268H | het unknown | 0.207 | Unknown pharmacogenetic | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 0.25 | COCH-T352S | het unknown | 0.509 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests |
| 0.25 | CWH43-P2T | het unknown | 0.355 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 0.25 | CWH43-L533Shift | het unknown | Unknown | Insufficiently evaluated | Prioritization score: 2 Frameshift | |
| 0.25 | CWH43-H689N | het unknown | 0.568 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 0.25 | PYGL-V222I | het unknown | 0.106 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.336 (possibly damaging), Testable gene in GeneTests with associated GeneReview |
| 0.25 | SARDH-M648V | het unknown | 0.519 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: Unknown, Testable gene in GeneTests |
| 0.25 | SARDH-R614H | het unknown | 0.327 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.057 (benign), Testable gene in GeneTests |
| 0.25 | PAX9-A240P | het unknown | 0.311 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests |
| 0.25 | AMACR-E277K | het unknown | 0.756 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests |
| 0.25 | AMACR-Q239H | het unknown | 0.118 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests |
| 0.25 | AMACR-L201S | het unknown | 0.748 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests |
| 0.25 | RAX-D44E | het unknown | 0.229 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: 0.003 (benign), Testable gene in GeneTests with associated GeneReview |
| 0.25 | CHRNB1-E32G | het unknown | 0.250 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.288 (possibly damaging), Testable gene in GeneTests with associated GeneReview |
| 0.25 | GPT-H14N | het unknown | 0.382 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.25 | TNK1-R519* | het unknown | Unknown | Insufficiently evaluated | Prioritization score: 2 Nonsense mutation | |
| 0.25 | TNK1-V593M | homozygous | 0.822 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 0.25 | RBM14-A510G | het unknown | Unknown | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: Unknown | |
| 0.25 | RBM14-T511Shift | het unknown | Unknown | Insufficiently evaluated | Prioritization score: 2 Frameshift | |
| 0.25 | GM2A-I59V | het unknown | 0.606 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests |
| 0.25 | GM2A-M69V | het unknown | 0.722 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests |
| 0.25 | KRT1-K633R | het unknown | 0.220 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests |
| 0.25 | CD226-S307G | het unknown | 0.451 | Unknown pharmacogenetic | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 0.25 | TCOF1-A1353V | het unknown | 0.214 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.25 | SLC16A2-S107P | het unknown | 0.462 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.25 | MADD-V751M | het unknown | 0.226 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests |
| 0.25 | SMPD1-G508R | het unknown | 0.200 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.25 | TH-V108M | het unknown | 0.290 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.25 | F13A1-P565L | het unknown | 0.193 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests |
| 0.25 | EIF2B5-I587V | het unknown | 0.328 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.001 (benign), Testable gene in GeneTests with associated GeneReview |
| 0.25 | TMEM43-K168N | het unknown | 0.287 | 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 | 0.335 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.25 | C19orf71-P83L | het unknown | Unknown | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: Unknown | |
| 0.25 | C19orf71-E148Shift | het unknown | Unknown | Insufficiently evaluated | Prioritization score: 2 Frameshift | |
| 0.25 | FGFR4-P136L | homozygous | 0.722 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 0.25 | FGFR4-G388R | het unknown | 0.241 | Unknown pharmacogenetic | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: 0.481 (possibly damaging) |
| 0.25 | XPC-Q939K | het unknown | 0.643 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.25 | CD44-K417R | het unknown | 0.754 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 0.25 | CD44-T441Shift | het unknown | Unknown | Insufficiently evaluated | Prioritization score: 2 Frameshift | |
| 0.25 | CD44-I479T | homozygous | 0.863 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 0.25 | SPINK5-Q267R | het unknown | 0.490 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests |
| 0.25 | SPINK5-A335V | het unknown | 0.440 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests |
| 0.25 | SPINK5-S368N | het unknown | 0.428 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests |
| 0.25 | SPINK5-K420E | het unknown | 0.433 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests |
| 0.25 | SPINK5-R711Q | het unknown | 0.545 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests |
| 0.25 | MTMR2-K3T | het unknown | 0.240 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.25 | AOX1-N1135S | het unknown | 0.174 | Unknown pharmacogenetic | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 0.25 | KAL1-V534I | het unknown | 0.562 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.25 | NM_001037335-R2206Shift | het unknown | Unknown | Insufficiently evaluated | Prioritization score: 2 Frameshift | |
| 0.25 | NM_001037335-Q2049E | het unknown | 0.396 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 0.25 | NM_001037335-P2016L | het unknown | 0.238 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: 0.007 (benign) |
| 0.25 | NM_001037335-L1821R | het unknown | 0.090 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 0.25 | NM_001037335-R1652Q | het unknown | 0.136 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: 0.002 (benign) |
| 0.25 | NM_001037335-R1381K | het unknown | 0.138 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: 0.005 (benign) |
| 0.25 | NM_001037335-V1308L | het unknown | 0.431 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: 0.002 (benign) |
| 0.25 | NM_001037335-H1123R | homozygous | 0.966 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 0.25 | NM_001037335-S788N | homozygous | 0.903 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 0.25 | NM_001037335-S338L | het unknown | 0.138 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: 0.889 (probably damaging) |
| 0.25 | C17orf55-V50L | het unknown | Unknown | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: Unknown | |
| 0.25 | C17orf55-A49Shift | het unknown | Unknown | Insufficiently evaluated | Prioritization score: 2 Frameshift | |
| 0.25 | FLNB-D1157N | het unknown | 0.303 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: 0.997 (probably damaging), Testable gene in GeneTests with associated GeneReview |
| 0.25 | FLNB-V1471M | het unknown | 0.363 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.02 (benign), Testable gene in GeneTests with associated GeneReview |
| 0.25 | KRT6B-I365V | het unknown | 0.301 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.003 (benign), Testable gene in GeneTests with associated GeneReview |
| 0.25 | FASTKD2-S15N | het unknown | 0.131 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: 0.497 (possibly damaging), Testable gene in GeneTests |
| 0.25 | FASTKD2-T291M | het unknown | Unknown | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests | |
| 0.25 | PFKM-R100Q | het unknown | 0.171 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.01 (benign), Testable gene in GeneTests |
| 0.25 | GHR-I544L | het unknown | 0.435 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: 0.98 (probably damaging), Testable gene in GeneTests |
| 0.25 | NEUROD1-T45A | het unknown | 0.672 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests |
| 0.25 | SNX19-L878R | het unknown | 0.809 | Unknown pharmacogenetic | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 0.25 | SNX19-L618F | homozygous | 1.000 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 0.25 | SNX19-V361L | het unknown | 0.712 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 0.25 | DSC2-I776V | het unknown | 0.192 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.25 | DLAT-A43V | het unknown | 0.306 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests |
| 0.25 | DLAT-V318A | het unknown | 0.502 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests |
| 0.25 | DLAT-D451N | het unknown | 0.280 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests |
| 0.25 | ALG9-V289I | het unknown | 0.263 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: 0.907 (probably damaging), Testable gene in GeneTests with associated GeneReview |
| 0.25 | FECH-R102Q | het unknown | 0.121 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests |
| 0.25 | ITGA6-A380T | het unknown | 0.316 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 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 | HSD17B4-W511R | het unknown | 0.154 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: 0.984 (probably damaging), Testable gene in GeneTests |
| 0.25 | HSD17B4-I559V | het unknown | 0.404 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: 0.111 (benign), Testable gene in GeneTests |
| 0.25 | FBN2-V965I | het unknown | 0.665 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.25 | IL13-Q144R | het unknown | 0.811 | Unknown pharmacogenetic | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 0.125 | CYP4F2-V433M | het unknown | 0.226 | Recessive pharmacogenetic | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: 0.309 (possibly damaging) |
| 0.125 | CYP4F2-G185V | het unknown | 0.049 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: 0.263 (possibly damaging) |
| 0.125 | CYP4F2-W12G | het unknown | 0.191 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: 0.001 (benign) |
| 0 | H6PD-R453Q | het unknown | 0.309 | Recessive pathogenic | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: 0.004 (benign) |
Input file format: CGIVAR
Genome build: b37
Genome coverage: 2,753,999,917 bases (97.2% of callable positions, 91.1% of total positions)
Coding region coverage: 32,883,586 bases (99.0% of all genes, 99.5% 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