Variant report for huFA70A3
- Data source: CGI sample GS01670-DNA_G02 from PGP sample
- This report: evidence.pgp-hms.org/genomes?a6b7258ea9d1d558585038da9859389afeb19b7e
- Person ID: huFA70A3
- public profile: my.pgp-hms.org/profile/huFA70A3
- Download: source data, dbSNP and nsSNP report (111 MB)
- Processing status: processing
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Log file:
| Row number | Variant | Clinical Importance | Evidence | Impact | Allele freq | Summary | Sufficient |
|---|---|---|---|---|---|---|---|
| 1 | C3-R102G | Moderate | Likely | Likely pathogenic Complex/Other, Heterozygous | 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 |
| 2 | FLG-S761Shift | Moderate | Uncertain | Uncertain pathogenic Complex/Other, Heterozygous | 0.00793651 | Based on other severe variants in the same gene, this variant is likely to cause ichthyosis vulgaris when homozygous or compound heterozygous with another severe variant. Some authors report the variant has incomplete dominance, with heterozygotes generally having a very mild phenotype: some palmar hyperlinearity, keratosis pilaris and, in some cases fine scale. | 1 |
| 3 | BTD-D444H | Low | Well-established | Well-established pathogenic Recessive, Carrier (Heterozygous) | 0.0298383 | This variant is implicated in partial and profound biotinidase deficiency. Alone, this variant is estimated to have a 52% loss of enzymatic activity. This variant is often found with A171T, and together they are reported to cause profound deficiency. Notably there is a report of asymptomatic double-mutant adults, so symptoms may have variable penetrance. This variant is found compound heterozygously with more serious mutations in cases of partial biotinidase deficiency. | 1 |
| 4 | AMPD1-Q12X | Low | Likely | Likely pathogenic Recessive, Carrier (Heterozygous) | 0.0930643 | Causes Adenosine Deaminase Deficiency in a recessive manner. Most of the time individuals do not report symptoms, but when symptoms do exist they to be post-exercise symptoms of muscle weakness, muscle pain, and getting tired more quickly. | 1 |
| 5 | MBL2-G54D | Low | Likely | Likely pathogenic Recessive, Carrier (Heterozygous) | 0.103923 | This variant is associated with mannose binding protein deficiency which leads to impaired complement system immune response to mannose-rich pathogens. Patients homozygous for this allele or compound heterozygous are likely to have increased susceptibility to infection, but Hellemann et al. report heterosis for intensive care outcomes in heterozygous subjects. The wild-type version of this gene is known as variant allele A, while this is called variant allele B. See R52C (variant D) and G57E (variant C). | 1 |
| 6 | MTRR-I49M | Low | Likely | Likely pathogenic Recessive, Carrier (Heterozygous) | 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 | WFS1-R611H | Low | Uncertain | Uncertain not reviewed Recessive, Homozygous | 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 |
| 8 | 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 |
| 9 | TGIF1-P83Shift | Low | Uncertain | Uncertain pathogenic Complex/Other, Heterozygous | 0.138889 | Severe variants in this gene are associated with holoprosencephaly disorders when combined with loss-of-function variants in SHH. Haploinsufficiency was identified in some families with this condition. It is unclear how likely this variant is to occur in combination with an SHH variant, or what phenotypic effect the variant would have on its own. | 1 |
| 10 | TP53-P72R | Low | Uncertain | Uncertain pathogenic Unknown, Heterozygous | 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 |
| 11 | ERCC6-R1213G | Low | Uncertain | Uncertain pathogenic Recessive, Carrier (Heterozygous) | 0.196877 | When homozygous, this variant may cause Cockayne Syndrome, which is a severe autosomal-recessive disorder characterized by abnormal early growth and development, abnormal sensitivity to sunlight, and premature aging. Cockayne Syndrome Type I and Type II lead to death in early childhood. Several other variants in the ERCC6 gene are linked to Cockayne Syndrome. This variant may also be linked to age-related macular degeneration like other ERCC6 variants, and has been linked to colorectal cancer in one study. | 1 |
| 12 | 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 |
| 13 | BRCA2-N372H | Low | Uncertain | Uncertain pathogenic Recessive, Carrier (Heterozygous) | 0.23656 | This is a common variant of BRCA2 (HapMap allele frequency of 23%). The variant is weakly associated with an increased chance of breast cancer, and zygosity of the variant is associated with sex of children: male children are more likely to be homozygous for this variant, female children are more likely to be heterozygous. | 1 |
| 14 | CYP2C9-R144C | Moderate | Well-established | Well-established pharmacogenetic Unknown, Heterozygous | 0.0970982 | This variant, also called CYP2C9*2, is a pharmacogenetic variant that modulates sensitivity for Warfarin (due to reduced metabolism). This variant is associated with Caucasians. The FDA has approved reduced recommended Warfarin dosage based on the presence of this variant. | 1 |
| 15 | rs1544410 | Low | Uncertain | Uncertain pharmacogenetic Unknown, Heterozygous | 0.351562 | rs1544410 is a Vitamin D Receptor (VDR) single nucleotide polymorphism. It is unlikely that it has functional significance because it is located in an intron (Liu et. al.), but it is in strong linkage disequilibrium with rs731236 (Dvornyk et al), which is located in an exon. | 1 |
| 16 | ABCC6-R1268Q | Low | Uncertain | Uncertain pharmacogenetic Unknown, Heterozygous | 0.218907 | This common polymorphism appears to not have a significant phenotypic impact. A few studies report weak but significant associations with plasma lipids (in Inuits) and thalidomide toxicity. | 1 |
| 17 | PRNP-M129V | Low | Well-established | Well-established protective Complex/Other, Heterozygous | 0.339561 | This variant is associated with some protective effects for prion disease -- individuals homozygous for this variant are less susceptible to Creutzfeldt-Jakob, and Papua New Guinea individuals heterozygotes at this site are less susceptible to kuru. | 1 |
| 18 | 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 |
| 19 | CFH-V62I | Low | Likely | Likely protective Complex/Other, Heterozygous | 0.391616 | Associated with a decreased risk for age related macular degeneration (ARMD). Homozygotes for this have a 4-5% decreased attributable risk (3-4% vs. average 8% risk), heterozygotes have slightly lower than average risk (7%). Non-carriers have an increased risk (12-13%). ARMD impairs sharp vision as age progresses. While there is no cure, treatment can slow progression of the disease and environmental factors (smoking and obesity) contribute to higher risk. | 1 |
| 20 | 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 |
| 21 | 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 |
| 22 | 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 |
| 23 | 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 |
| 24 | TYR-R402Q | Low | Well-established | Well-established benign Complex/Other, Heterozygous | 0.204964 | This is a frequent pigmentation polymorphism in Europeans that affects function of the Tyrosinase gene. It is associated with blue instead of green eyes and sun sensitivity. For the most part this variant is benign, but many individuals with ocular albinism (which affects only the eyes) carry this variant along with another more severe variant in the same gene. | 1 |
| 25 | GABRD-R220H | Low | Likely | Likely benign Unknown, Heterozygous | 0.0161891 | Probably benign, one report hypothesized this variant was associated with epilepsy, but a follow-up investigation failed to establish any statistically significant difference for this variant's incidence in control vs. affected populations. | 1 |
| 26 | PKP2-D26N | Low | Likely | Likely benign Unknown, Heterozygous | 0.00485625 | Probably benign. This variant has been classified as a rare polymorphism, although other variants in this gene have been implicated in causing autosomal dominant arrhythmogenic right ventricular dysplasia (which can cause sudden death at an early age). | 1 |
| 27 | CACNA1S-L458H | Low | Likely | Likely benign Unknown, Heterozygous | 0.27282 | Common polymorphism | 1 |
| 28 | FANCA-M717I | Low | Likely | Likely benign Unknown, Heterozygous | 0.0216583 | Rare polymorphism, not considered pathogenic. | 1 |
| 29 | RPGRIP1-A547S | Low | Uncertain | Uncertain benign Complex/Other, Heterozygous | 0.232202 | Probably benign. Implicated in causing autosomal recessive cone-rod dystrophy, but a later report found the same incidence in controls and concludes it is not causal. | 1 |
| 30 | LOXL1-R141L | Low | Uncertain | Uncertain benign Complex/Other, Heterozygous | 0.255899 | Associated with exfoliative glaucoma & syndrome (XFG & XFS) in various populations, but with contradicting results (protective in Caucasians, pathogenic in Japanese). Based on this it seems the variation itself -- although it affects protein structure -- is not itself causing disease. Instead it is likely associated with other nearby causal variants. As such, it is evaluated as benign by GET-Evidence (which focuses on reporting causal variants). See detailed variant report for disease risk associations. | 1 |
| 31 | COL7A1-P1277L | Low | Uncertain | Uncertain benign Unknown, Heterozygous | 0.0407139 | Polymorphism, presumed benign. | 1 |
| 32 | PCSK9-G670E | Low | Uncertain | Uncertain benign Unknown, Homozygous | 0.888269 | This variant is likely benign. | 1 |
| 33 | POLG2-G416A | Low | Uncertain | Uncertain benign Unknown, Heterozygous | 0.0119025 | Rare but presumed benign. It was believed to be non-causal in a patient with a different mutation, and functional analysis found no difference from wild type. | 1 |
| 34 | APOB-Y1422C | Low | Uncertain | Uncertain benign Unknown, Homozygous | 0.999628 | This position is almost certainly an error in the HG18 reference sequence. | 1 |
| 35 | RNASEH2B-I309Shift | Low | Uncertain | Uncertain benign Unknown, Heterozygous | 0.0234375 | This variant is predicted to be highly disruptive. Although other disruptive variants in this gene are reported to cause Aicardi-Goutieres syndrome in a recessive manner (a rare, fatal childhood disease), those variants were upstream of this position, and this variant is too common to be consistent with causing that disease (2% allele frequency). Based on this, it is tentatively evaluated as benign. | 1 |
| 36 | AMPD1-P48L | Low | Uncertain | Uncertain benign Unknown, Heterozygous | 0.0940695 | Probably benign, ancestral to15173240 pathogenic Q12X mutation. | 1 |
| 37 | CASP8-M1T | Low | Uncertain | Uncertain benign Unknown, Heterozygous | 0.0310451 | Probably benign. Although start codons can be extremely disruptive and this gene is implicated in a rare disease (autoimmune lymphoproliferative syndrome), the allele frequency for this variant (2-3%) is high enough to contradict such a strong pathogenic effect. This may be because the gene has many other transcripts that do not include this position as exonic. | 1 |
| 38 | TPCN2-G734E | Low | Uncertain | Uncertain benign Unknown, Heterozygous | 0.286166 | Pigmentation allele. | 1 |
| 39 | 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 |
| 40 | RP1-N985Y | Low | Uncertain | Uncertain benign Unknown, Homozygous | 0.348671 | Probably benign. One report linked this variant to high triglycerides, but a later paper found a nearby SNP with similar association and suggests that both findings are caused by linkage to an undiscovered causal variant. | 1 |
| 41 | PTCH1-P1315L | Low | Uncertain | Uncertain benign Unknown, Homozygous | 0.29631 | Common polymorphism, presumed benign. | 1 |
| 42 | 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 |
| 43 | F5-M413T | Low | Uncertain | Uncertain benign Unknown, Heterozygous | 0.0580963 | Presumed benign. This variant is not particularly rare and has not been reported to cause disease. | 1 |
| 44 | 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 |
| 45 | F5-D2222G | Low | Uncertain | Uncertain benign Unknown, Heterozygous | 0.0448968 | Other mutations in this gene are associated with Factor 5 deficiency. There is no literature implicating this variant, however, and it is fairly common in the population (3.8% in HapMap), and so it is currently labeled as benign. | 1 |
| 46 | PKP2-L366P | Low | Uncertain | Uncertain benign Unknown, Homozygous | 0.221231 | This variant is a benign polymorphism. | 1 |
| Row number | Variant | Prioritization score | Allele freq | Num of articles | Zygosity and Prioritization Score Reasons | Sufficient |
|---|
Exome coverage: 32972026 / 33282720 = 99.07%
| Row number | Gene | Chromosome | Coverage | Missing | Length | Missing regions |
|---|---|---|---|---|---|---|
| 1 | AGRN | 1 | 0.95324209840339 | 287 | 6138 | 955553-955631, 955648-955667, 976213-976246, 981888-981889, 981892-981895, 983598-983745 |
| 2 | GABRD | 1 | 0.95879323031641 | 56 | 1359 | 1950863-1950914, 1950922-1950924, 1950927 |
| 3 | ESPN | 1 | 0.86705653021442 | 341 | 2565 | 6488319-6488336, 6488378-6488392, 6488426-6488432, 6500686-6500715, 6500765-6500791, 6500830-6500868, 6501029-6501065, 6501097-6501103, 6505776-6505798, 6505847-6505861, 6505888-6505937, 6508851-6508888, 6508922-6508928, 6512127-6512154 |
| 4 | PLEKHG5 | 1 | 0.98620257133898 | 44 | 3189 | 6534199, 6534542, 6534545, 6534559, 6534572-6534592, 6534630-6534645, 6557380-6557382 |
| 5 | KIF1B | 1 | 0.99736495388669 | 14 | 5313 | 10335486-10335497, 10399868, 10425585 |
| 6 | PEX14 | 1 | 0.99470899470899 | 6 | 1134 | 10684441-10684446 |
| 7 | TARDBP | 1 | 0.97831325301205 | 27 | 1245 | 11082356-11082362, 11082519-11082538 |
| 8 | PLOD1 | 1 | 0.99862637362637 | 3 | 2184 | 11994866-11994867, 11994871 |
| 9 | CLCNKA | 1 | 0.99660852713178 | 7 | 2064 | 16354391-16354397 |
| 10 | CLCNKB | 1 | 0.99321705426357 | 14 | 2064 | 16373044-16373050, 16383399-16383405 |
| 11 | ATP13A2 | 1 | 0.9994355066328 | 2 | 3543 | 17322616-17322617 |
| 12 | HSPG2 | 1 | 0.99521857923497 | 63 | 13176 | 22263648-22263710 |
| 13 | WNT4 | 1 | 0.92613636363636 | 78 | 1056 | 22447971, 22469339-22469415 |
| 14 | LDLRAP1 | 1 | 0.99568500539374 | 4 | 927 | 25870205-25870208 |
| 15 | SEPN1 | 1 | 0.89028776978417 | 183 | 1668 | 26126722-26126904 |
| 16 | YARS | 1 | 0.99936988027725 | 1 | 1587 | 33276513 |
| 17 | KCNQ4 | 1 | 0.99473180076628 | 11 | 2088 | 41249912-41249914, 41250005-41250007, 41284296-41284300 |
| 18 | MPL | 1 | 0.99528301886792 | 9 | 1908 | 43805648-43805650, 43814993-43814995, 43818343, 43818348, 43818356 |
| 19 | PCSK9 | 1 | 0.998556998557 | 3 | 2079 | 55505553-55505555 |
| 20 | ALG6 | 1 | 0.99738562091503 | 4 | 1530 | 63881613-63881616 |
| 21 | GLMN | 1 | 0.99719887955182 | 5 | 1785 | 92732269, 92732272-92732275 |
| 22 | RPL5 | 1 | 0.99664429530201 | 3 | 894 | 93307409-93307411 |
| 23 | AGL | 1 | 0.99804305283757 | 9 | 4599 | 100329964-100329970, 100377961-100377962 |
| 24 | COL11A1 | 1 | 0.98387392340114 | 88 | 5457 | 103364222-103364248, 103364266-103364307, 103364316-103364329, 103435775-103435779 |
| 25 | GSTM1 | 1 | 0.48249619482496 | 340 | 657 | 110230496-110230531, 110230792-110230812, 110230817, 110230839, 110230841, 110230844, 110230847-110230855, 110230858, 110230865-110230867, 110231302, 110231714, 110231721, 110231724, 110231738-110231744, 110231847-110231860, 110231866-110231947, 110232908-110232914, 110232924-110232925, 110232936-110232939, 110232948-110232988, 110233076-110233180 |
| 26 | NOTCH2 | 1 | 0.97963861920173 | 151 | 7416 | 120539665-120539714, 120539739-120539745, 120539778-120539784, 120539912-120539939, 120548022-120548058, 120548091-120548097, 120572547, 120572572, 120572609-120572610, 120611957-120611967 |
| 27 | FLG | 1 | 0.99647136057771 | 43 | 12186 | 152275806, 152276466-152276498, 152278434, 152279406, 152281350-152281356 |
| 28 | LMNA | 1 | 0.9647266313933 | 20 | 567 | 156105077-156105096 |
| 29 | LMNA | 1 | 0.98997493734336 | 20 | 1995 | 156105077-156105096 |
| 30 | KCNJ10 | 1 | 0.99912280701754 | 1 | 1140 | 160012061 |
| 31 | F5 | 1 | 0.99355805243446 | 43 | 6675 | 169510338-169510370, 169510483, 169510502, 169510524, 169510634-169510640 |
| 32 | CFH | 1 | 0.9840367965368 | 59 | 3696 | 196658720, 196658744, 196712583-196712589, 196714951-196714957, 196716353-196716395 |
| 33 | CFHR1 | 1 | 0.99295065458207 | 7 | 993 | 196797354-196797360 |
| 34 | ASPM | 1 | 0.99798734905118 | 21 | 10434 | 197074271-197074277, 197093332-197093345 |
| 35 | CD46 | 1 | 0.99416666666667 | 7 | 1200 | 207930362-207930368 |
| 36 | GJC2 | 1 | 0.96515151515152 | 46 | 1320 | 228346059-228346068, 228346084, 228346115-228346116, 228346133-228346138, 228346149-228346154, 228346216-228346217, 228346231-228346235, 228346395-228346408 |
| 37 | LYST | 1 | 0.997808171138 | 25 | 11406 | 235875493-235875494, 235897130-235897146, 235944229, 235944232, 235950505-235950508 |
| 38 | RYR2 | 1 | 0.99845679012346 | 23 | 14904 | 237821244-237821265, 237821311 |
| 39 | DCLRE1C | 10 | 0.99326599326599 | 14 | 2079 | 14976411-14976417, 14981847-14981853 |
| 40 | CUBN | 10 | 0.99990802060338 | 1 | 10872 | 16957899 |
| 41 | PTF1A | 10 | 0.99290780141844 | 7 | 987 | 23482723-23482729 |
| 42 | RET | 10 | 0.97608370702541 | 80 | 3345 | 43572707-43572779, 43607607-43607613 |
| 43 | ERCC6 | 10 | 0.99866131191432 | 6 | 4482 | 50701293, 50740803, 50740807-50740810 |
| 44 | CHAT | 10 | 0.95015576323988 | 112 | 2247 | 50822274-50822284, 50822293-50822299, 50822325-50822355, 50822361-50822423 |
| 45 | PCDH15 | 10 | 0.99796230259806 | 12 | 5889 | 55582438, 55587198-55587203, 56138656-56138658, 56138662-56138663 |
| 46 | CDH23 | 10 | 0.99990055688146 | 1 | 10056 | 73462365 |
| 47 | VCL | 10 | 0.99676945668135 | 11 | 3405 | 75874614-75874624 |
| 48 | GLUD1 | 10 | 0.99582587954681 | 7 | 1677 | 88836362-88836368 |
| 49 | SUFU | 10 | 0.99931271477663 | 1 | 1455 | 104263990 |
| 50 | FGFR2 | 10 | 0.99837596427121 | 4 | 2463 | 123244970-123244973 |
| 51 | HTRA1 | 10 | 0.93069993069993 | 100 | 1443 | 124221169-124221174, 124221178, 124221187, 124221192, 124221198-124221262, 124221276, 124221309-124221333 |
| 52 | SLC25A22 | 11 | 0.98559670781893 | 14 | 972 | 792618-792630, 792635 |
| 53 | CTSD | 11 | 0.9862792574657 | 17 | 1239 | 1785049-1785060, 1785065-1785067, 1785071-1785072 |
| 54 | CDKN1C | 11 | 0.92429022082019 | 72 | 951 | 2905946-2905959, 2906064, 2906081-2906137 |
| 55 | ABCC8 | 11 | 0.99241466498104 | 36 | 4746 | 17449414-17449420, 17452427-17452448, 17498185-17498191 |
| 56 | USH1C | 11 | 0.99814814814815 | 5 | 2700 | 17531320, 17531346-17531349 |
| 57 | ANO5 | 11 | 0.97009482129832 | 82 | 2742 | 22276933, 22276971-22276981, 22276988-22277057 |
| 58 | PAX6 | 11 | 0.99527186761229 | 6 | 1269 | 31811482-31811487 |
| 59 | RAG1 | 11 | 0.99968071519796 | 1 | 3132 | 36595065 |
| 60 | EXT2 | 11 | 0.99860917941586 | 3 | 2157 | 44228374-44228376 |
| 61 | NDUFS3 | 11 | 0.9937106918239 | 5 | 795 | 47602532-47602536 |
| 62 | SERPING1 | 11 | 0.99866932801065 | 2 | 1503 | 57365778-57365779 |
| 63 | SLC22A12 | 11 | 0.99819494584838 | 3 | 1662 | 64367266-64367268 |
| 64 | PYGM | 11 | 0.99802293396599 | 5 | 2529 | 64527156-64527160 |
| 65 | BBS1 | 11 | 0.99046015712682 | 17 | 1782 | 66299433-66299442, 66299454-66299460 |
| 66 | AIP | 11 | 0.99798590130916 | 2 | 993 | 67257559, 67257562 |
| 67 | LRP5 | 11 | 0.99092409240924 | 44 | 4848 | 68080195-68080196, 68080199-68080200, 68080204, 68080207, 68080210-68080247 |
| 68 | MYO7A | 11 | 0.99954873646209 | 3 | 6648 | 76922283, 76922292, 76922295 |
| 69 | DYNC2H1 | 11 | 0.99698725376593 | 39 | 12945 | 103022939, 103043824-103043825, 103043832-103043844, 103043876-103043878, 103043888, 103052494-103052498, 103059254, 103059263, 103062246, 103062344-103062345, 103130622, 103130635-103130641, 103349923 |
| 70 | ATM | 11 | 0.99487514992912 | 47 | 9171 | 108126996-108126999, 108127009-108127010, 108127014-108127015, 108127021-108127029, 108127050-108127067, 108188157-108188168 |
| 71 | DLAT | 11 | 0.99331275720165 | 13 | 1944 | 111899560, 111899568-111899578, 111899584 |
| 72 | DRD2 | 11 | 0.99924924924925 | 1 | 1332 | 113281451 |
| 73 | ROBO3 | 11 | 0.99879836577746 | 5 | 4161 | 124740148, 124745539-124745542 |
| 74 | WNK1 | 12 | 0.99734228563435 | 19 | 7149 | 863230-863247, 994808 |
| 75 | CACNA1C | 12 | 0.99893308946807 | 7 | 6561 | 2794934-2794940 |
| 76 | VWF | 12 | 0.98009950248756 | 168 | 8442 | 6125338-6125344, 6125722-6125728, 6127532-6127538, 6127637-6127661, 6127865-6127871, 6127943, 6128064-6128079, 6128167-6128173, 6128339-6128345, 6128449-6128451, 6128784-6128790, 6131925-6131932, 6131955-6131982, 6132003-6132033, 6135153-6135159 |
| 77 | ATN1 | 12 | 0.97229219143577 | 99 | 3573 | 7045580-7045623, 7045888-7045942 |
| 78 | GYS2 | 12 | 0.99952651515152 | 1 | 2112 | 21712071 |
| 79 | LRRK2 | 12 | 0.99881329113924 | 9 | 7584 | 40761500, 40761503-40761510 |
| 80 | MLL2 | 12 | 0.9977729625617 | 37 | 16614 | 49421924, 49426570, 49426772-49426774, 49427056, 49427060, 49427251-49427253, 49427256-49427272, 49431291-49431293, 49431301-49431303, 49442990-49442993 |
| 81 | TUBA1A | 12 | 0.99561403508772 | 2 | 456 | 49522578, 49522605 |
| 82 | KRT81 | 12 | 0.99934123847167 | 1 | 1518 | 52685096 |
| 83 | KRT86 | 12 | 0.99041752224504 | 14 | 1461 | 52695851-52695857, 52698739-52698745 |
| 84 | KRT6B | 12 | 0.98053097345133 | 33 | 1695 | 52843635, 52844380-52844403, 52845432-52845438, 52845801 |
| 85 | KRT6C | 12 | 0.98879056047198 | 19 | 1695 | 52863564, 52865295-52865300, 52866018-52866019, 52867094, 52867105, 52867456-52867463 |
| 86 | KRT6A | 12 | 0.98230088495575 | 30 | 1695 | 52882219-52882246, 52884735, 52886911 |
| 87 | KRT5 | 12 | 0.98871968415116 | 20 | 1773 | 52908853-52908854, 52908872, 52908885-52908901 |
| 88 | KRT1 | 12 | 0.99793281653747 | 4 | 1935 | 53072516-53072519 |
| 89 | SUOX | 12 | 0.9993894993895 | 1 | 1638 | 56398175 |
| 90 | GNS | 12 | 0.99397227245329 | 10 | 1659 | 65141676-65141677, 65152977-65152984 |
| 91 | LEMD3 | 12 | 0.99963450292398 | 1 | 2736 | 65612390 |
| 92 | CEP290 | 12 | 0.99811827956989 | 14 | 7440 | 88465072, 88472951-88472954, 88519073-88519080, 88522723 |
| 93 | SLC17A8 | 12 | 0.99435028248588 | 10 | 1770 | 100774577-100774581, 100774585-100774589 |
| 94 | SYCP3 | 12 | 0.9915611814346 | 6 | 711 | 102131010-102131015 |
| 95 | ATXN2 | 12 | 0.97057331303907 | 116 | 3942 | 111957756, 112036740-112036830, 112036841-112036850, 112036870, 112036873-112036876, 112036890, 112036923-112036929, 112037131 |
| 96 | TBX3 | 12 | 0.9923835125448 | 17 | 2232 | 115109881, 115109890-115109899, 115109903-115109908 |
| 97 | HNF1A | 12 | 0.99736286919831 | 5 | 1896 | 121434366-121434369, 121434378 |
| 98 | PUS1 | 12 | 0.99610591900312 | 5 | 1284 | 132426010-132426014 |
| 99 | CENPJ | 13 | 0.99975105800349 | 1 | 4017 | 25480994 |
| 100 | BRCA2 | 13 | 0.99970751681778 | 3 | 10257 | 32929159-32929161 |
| 101 | FREM2 | 13 | 0.99926393270242 | 7 | 9510 | 39261568-39261570, 39261578-39261581 |
| 102 | SLITRK1 | 13 | 0.99665231946437 | 7 | 2091 | 84453774-84453780 |
| 103 | ZIC2 | 13 | 0.9437148217636 | 90 | 1599 | 100634402, 100634405, 100635004-100635040, 100637672-100637683, 100637737, 100637815-100637818, 100637821-100637854 |
| 104 | PCCA | 13 | 0.99954275262917 | 1 | 2187 | 100909910 |
| 105 | ERCC5 | 13 | 0.99905638122199 | 4 | 4239 | 103515391-103515394 |
| 106 | COL4A1 | 13 | 0.9998003992016 | 1 | 5010 | 110959347 |
| 107 | SLC7A7 | 14 | 0.99934895833333 | 1 | 1536 | 23282126 |
| 108 | PABPN1 | 14 | 0.95982627578719 | 37 | 921 | 23790681-23790683, 23790688, 23790692, 23790699-23790703, 23790707-23790708, 23790732, 23790742-23790752, 23790860-23790861, 23790869-23790871, 23790874-23790876, 23790913, 23790932, 23790958-23790959, 23791027 |
| 109 | MYH6 | 14 | 0.99948453608247 | 3 | 5820 | 23855313, 23855316-23855317 |
| 110 | MYH7 | 14 | 0.99965564738292 | 2 | 5808 | 23897787-23897788 |
| 111 | TGM1 | 14 | 0.99837000814996 | 4 | 2454 | 24724255, 24724261, 24724267-24724268 |
| 112 | FOXG1 | 14 | 0.80544217687075 | 286 | 1470 | 29236662-29236947 |
| 113 | COCH | 14 | 0.99939503932244 | 1 | 1653 | 31344276 |
| 114 | FANCM | 14 | 0.99837319017407 | 10 | 6147 | 45623981-45623986, 45623997-45624000 |
| 115 | SYNE2 | 14 | 0.99831113684617 | 35 | 20724 | 64447766-64447767, 64447774-64447777, 64450594, 64692106-64692133 |
| 116 | ESRRB | 14 | 0.99672560576293 | 5 | 1527 | 76964680, 76964683-76964686 |
| 117 | GALC | 14 | 0.99465500485909 | 11 | 2058 | 88454508-88454518 |
| 118 | SPATA7 | 14 | 0.98833333333333 | 21 | 1800 | 88883102-88883114, 88894023-88894030 |
| 119 | FBLN5 | 14 | 0.99480326651819 | 7 | 1347 | 92403371-92403377 |
| 120 | ATXN3 | 14 | 0.97974217311234 | 22 | 1086 | 92537346, 92537354-92537374 |
| 121 | VRK1 | 14 | 0.9983207388749 | 2 | 1191 | 97304129, 97304148 |
| 122 | AMN | 14 | 0.9992657856094 | 1 | 1362 | 103396617 |
| 123 | INF2 | 14 | 0.92826666666667 | 269 | 3750 | 105173706-105173710, 105173758-105173772, 105173779, 105173873-105173884, 105173888-105173892, 105173894, 105173906-105174124, 105174167-105174177 |
| 124 | NIPA1 | 15 | 0.82020202020202 | 178 | 990 | 23086234-23086411 |
| 125 | UBE3A | 15 | 0.99467275494673 | 14 | 2628 | 25616251-25616257, 25616620-25616626 |
| 126 | CHST14 | 15 | 0.99292661361627 | 8 | 1131 | 40763460, 40763477-40763478, 40763483, 40763529-40763532 |
| 127 | CDAN1 | 15 | 0.99701411509229 | 11 | 3684 | 43018347-43018353, 43019937-43019940 |
| 128 | TTBK2 | 15 | 0.99973226238286 | 1 | 3735 | 43067862 |
| 129 | STRC | 15 | 0.97897897897898 | 112 | 5328 | 43892736-43892737, 43892740, 43896303-43896312, 43896976-43896982, 43897544-43897560, 43900153, 43902600, 43907736-43907751, 43910313-43910319, 43910436-43910444, 43910863-43910903 |
| 130 | STRC | 15 | 0.99230769230769 | 15 | 1950 | 44007206-44007213, 44009775-44009781 |
| 131 | DUOX2 | 15 | 0.99720249623413 | 13 | 4647 | 45393004, 45398348-45398359 |
| 132 | CEP152 | 15 | 0.997583081571 | 12 | 4965 | 49054834-49054845 |
| 133 | CYP19A1 | 15 | 0.99470899470899 | 8 | 1512 | 51520111-51520118 |
| 134 | HCN4 | 15 | 0.99916943521595 | 3 | 3612 | 73616166-73616168 |
| 135 | RPS17 | 15 | 0.9828431372549 | 7 | 408 | 82823387-82823393 |
| 136 | RPS17 | 15 | 0.9828431372549 | 7 | 408 | 83207730-83207736 |
| 137 | POLG | 15 | 0.99301075268817 | 26 | 3720 | 89876818-89876839, 89876853-89876856 |
| 138 | MESP2 | 15 | 0.97989949748744 | 24 | 1194 | 90320121-90320144 |
| 139 | HBZ | 16 | 0.97202797202797 | 12 | 429 | 203952-203959, 204273-204276 |
| 140 | CLCN7 | 16 | 0.99917287014061 | 2 | 2418 | 1524883-1524884 |
| 141 | PKD1 | 16 | 0.95043370508055 | 640 | 12912 | 2141157-2141158, 2141161-2141163, 2141171, 2147191-2147196, 2147207, 2147211-2147218, 2149757-2149763, 2149962-2149979, 2150017-2150025, 2150056-2150072, 2150478-2150521, 2152168-2152185, 2152922-2152928, 2152965-2152971, 2153542-2153548, 2153674, 2153711-2153741, 2153755-2153761, 2154570-2154612, 2154638-2154643, 2155349, 2155423-2155429, 2155906-2155912, 2155981-2155987, 2156241-2156247, 2156470-2156500, 2158001-2158025, 2159144-2159150, 2159403-2159409, 2162431-2162437, 2163179-2163185, 2164208-2164214, 2164802-2164838, 2164911-2164917, 2165384-2165398, 2165501-2165507, 2166095-2166101, 2166915-2166921, 2166976-2166982, 2167490-2167505, 2167871-2167877, 2167959-2168000, 2168056-2168075, 2168209-2168215, 2168701-2168733, 2169115-2169138, 2185561-2185572, 2185662-2185690 |
| 142 | SLX4 | 16 | 0.99927338782925 | 4 | 5505 | 3652219-3652222 |
| 143 | CREBBP | 16 | 0.99481511802429 | 38 | 7329 | 3778434-3778454, 3778959, 3778970, 3779134-3779139, 3779469, 3779475-3779480, 3779489, 3929898 |
| 144 | ALG1 | 16 | 0.97132616487455 | 40 | 1395 | 5128879, 5130993-5131026, 5134774, 5134780, 5134798-5134799, 5134805 |
| 145 | ABAT | 16 | 0.99866932801065 | 2 | 1503 | 8870341, 8870344 |
| 146 | ABCC6 | 16 | 0.98781028368794 | 55 | 4512 | 16259622-16259638, 16313509-16313515, 16315644-16315674 |
| 147 | PALB2 | 16 | 0.99971918000562 | 1 | 3561 | 23647637 |
| 148 | CLN3 | 16 | 0.98709187547456 | 17 | 1317 | 28497669-28497675, 28497694-28497698, 28497703-28497707 |
| 149 | PHKG2 | 16 | 0.97297297297297 | 33 | 1221 | 30760142-30760167, 30760178, 30760185, 30760196-30760199, 30768329 |
| 150 | FUS | 16 | 0.99051233396584 | 15 | 1581 | 31195279, 31195282, 31195705-31195717 |
| 151 | SALL1 | 16 | 0.98566037735849 | 57 | 3975 | 51175640-51175689, 51175699-51175705 |
| 152 | RPGRIP1L | 16 | 0.99974670719352 | 1 | 3948 | 53672249 |
| 153 | HSD11B2 | 16 | 0.94334975369458 | 69 | 1218 | 67465191-67465194, 67465202, 67465205-67465225, 67465242-67465247, 67465258-67465294 |
| 154 | LCAT | 16 | 0.99697656840514 | 4 | 1323 | 67973976-67973979 |
| 155 | HP | 16 | 0.98116298116298 | 23 | 1221 | 72093014-72093036 |
| 156 | MLYCD | 16 | 0.98245614035088 | 26 | 1482 | 83932800-83932813, 83932833-83932837, 83932856, 83932861, 83933110-83933114 |
| 157 | FOXF1 | 16 | 0.99561403508772 | 5 | 1140 | 86544195, 86544211-86544214 |
| 158 | SPG7 | 16 | 0.99748743718593 | 6 | 2388 | 89579413-89579416, 89579426-89579427 |
| 159 | CHRNE | 17 | 0.99257759784076 | 11 | 1482 | 4805572-4805582 |
| 160 | GUCY2D | 17 | 0.99969806763285 | 1 | 3312 | 7907181 |
| 161 | HES7 | 17 | 0.96607669616519 | 23 | 678 | 8025661-8025683 |
| 162 | MYH2 | 17 | 0.9993134225884 | 4 | 5826 | 10446443, 10450864-10450866 |
| 163 | ELAC2 | 17 | 0.99596936719065 | 10 | 2481 | 12896189-12896194, 12915006-12915009 |
| 164 | COX10 | 17 | 0.99474474474474 | 7 | 1332 | 14095345-14095351 |
| 165 | RAI1 | 17 | 0.99632931305716 | 21 | 5721 | 17697099-17697111, 17697121-17697127, 17697898 |
| 166 | MYO15A | 17 | 0.99801755876522 | 21 | 10593 | 18024026, 18024030-18024037, 18024201-18024206, 18024437, 18024465, 18049333-18049336 |
| 167 | UNC119 | 17 | 0.99031811894882 | 7 | 723 | 26879397-26879398, 26879401, 26879404, 26879420, 26879439, 26879447 |
| 168 | NEK8 | 17 | 0.999518999519 | 1 | 2079 | 27067966 |
| 169 | NF1 | 17 | 0.99988262910798 | 1 | 8520 | 29657362 |
| 170 | TCAP | 17 | 0.99404761904762 | 3 | 504 | 37822165-37822167 |
| 171 | KRT10 | 17 | 0.9960113960114 | 7 | 1755 | 38975211-38975217 |
| 172 | KRT14 | 17 | 0.98167723749119 | 26 | 1419 | 39738749-39738763, 39741304-39741309, 39742832, 39742850-39742852, 39742856 |
| 173 | KRT16 | 17 | 0.9620253164557 | 54 | 1422 | 39766265-39766281, 39768490-39768496, 39768717-39768746 |
| 174 | KRT17 | 17 | 0.99461123941493 | 7 | 1299 | 39780516-39780522 |
| 175 | STAT5B | 17 | 0.99534686971235 | 11 | 2364 | 40371359-40371364, 40371367-40371371 |
| 176 | STAT3 | 17 | 0.99654128837008 | 8 | 2313 | 40489794-40489801 |
| 177 | NAGS | 17 | 0.99563862928349 | 7 | 1605 | 42083585-42083591 |
| 178 | COL1A1 | 17 | 0.99908987485779 | 4 | 4395 | 48265948-48265951 |
| 179 | ACE | 17 | 0.98801326192298 | 47 | 3921 | 61554488-61554490, 61554493-61554507, 61554559-61554585, 61574580-61574581 |
| 180 | AXIN2 | 17 | 0.989336492891 | 27 | 2532 | 63533729-63533755 |
| 181 | SEPT9 | 17 | 0.92277115275412 | 136 | 1761 | 75494605-75494740 |
| 182 | SGSH | 17 | 0.98608349900596 | 21 | 1509 | 78188884-78188887, 78194050-78194053, 78194075-78194083, 78194087-78194089, 78194101 |
| 183 | FSCN2 | 17 | 0.99932386747803 | 1 | 1479 | 79503222 |
| 184 | AFG3L2 | 18 | 0.99498746867168 | 12 | 2394 | 12371637-12371648 |
| 185 | DSC2 | 18 | 0.99741315594974 | 7 | 2706 | 28660089-28660095 |
| 186 | LOXHD1 | 18 | 0.99984930681133 | 1 | 6636 | 44104529 |
| 187 | MYO5B | 18 | 0.99314945015324 | 38 | 5547 | 47352944-47352980, 47404225 |
| 188 | SMAD4 | 18 | 0.98975286317058 | 17 | 1659 | 48581196, 48603079-48603094 |
| 189 | TNFRSF11A | 18 | 0.98595353862777 | 26 | 1851 | 59992602-59992606, 59992609, 59992616-59992628, 59992637, 60035967-60035972 |
| 190 | ELANE | 19 | 0.94278606965174 | 46 | 804 | 853262, 853272, 853298-853302, 853307-853316, 853322-853328, 853371, 853383-853403 |
| 191 | KISS1R | 19 | 0.98663324979114 | 16 | 1197 | 920343, 920363-920368, 920372, 920378-920385 |
| 192 | MAP2K2 | 19 | 0.92352452202826 | 92 | 1203 | 4123781-4123872 |
| 193 | INSR | 19 | 0.999758978067 | 1 | 4149 | 7293870 |
| 194 | ADAMTS10 | 19 | 0.99969806763285 | 1 | 3312 | 8670187 |
| 195 | CACNA1A | 19 | 0.99707485706688 | 22 | 7521 | 13318671-13318690, 13318701-13318702 |
| 196 | NOTCH3 | 19 | 0.99626758541487 | 26 | 6966 | 15281326-15281333, 15311619-15311621, 15311625-15311627, 15311638-15311644, 15311647-15311648, 15311664-15311666 |
| 197 | JAK3 | 19 | 0.99940740740741 | 2 | 3375 | 17940936-17940937 |
| 198 | COMP | 19 | 0.99780123131047 | 5 | 2274 | 18901663, 18901666-18901669 |
| 199 | CEBPA | 19 | 0.95821727019499 | 45 | 1077 | 33792863-33792865, 33793198, 33793209-33793221, 33793224-33793225, 33793231-33793256 |
| 200 | SCN1B | 19 | 0.95043370508055 | 40 | 807 | 35521725-35521764 |
| 201 | RYR1 | 19 | 0.99900773963088 | 15 | 15117 | 38931387, 38976660-38976661, 38976669, 38987506, 39037111-39037113, 39055822-39055823, 39055834-39055838 |
| 202 | ACTN4 | 19 | 0.99963450292398 | 1 | 2736 | 39138541 |
| 203 | DLL3 | 19 | 0.97953688745288 | 38 | 1857 | 39993470, 39998008-39998044 |
| 204 | PRX | 19 | 0.99293205654355 | 31 | 4386 | 40901320-40901328, 40909613-40909616, 40909626-40909630, 40909637, 40909640, 40909700, 40909705, 40909712, 40909715, 40909720, 40909723, 40909754-40909758 |
| 205 | TGFB1 | 19 | 0.99744245524297 | 3 | 1173 | 41858921, 41858927-41858928 |
| 206 | BCKDHA | 19 | 0.99177877428999 | 11 | 1338 | 41903790-41903800 |
| 207 | ATP1A3 | 19 | 0.99972811310495 | 1 | 3678 | 42480606 |
| 208 | BCAM | 19 | 0.99417064122946 | 11 | 1887 | 45312420-45312426, 45312430-45312433 |
| 209 | DMPK | 19 | 0.96719576719577 | 62 | 1890 | 46285531-46285533, 46285552-46285610 |
| 210 | CRX | 19 | 0.99111111111111 | 8 | 900 | 48342631-48342633, 48342636-48342640 |
| 211 | DBP | 19 | 0.98261758691207 | 17 | 978 | 49138837-49138853 |
| 212 | MED25 | 19 | 0.9982174688057 | 4 | 2244 | 50335413-50335414, 50339524-50339525 |
| 213 | MYH14 | 19 | 0.99787268859434 | 13 | 6111 | 50770214-50770222, 50770228-50770229, 50770234-50770235 |
| 214 | KCNC3 | 19 | 0.87467018469657 | 285 | 2274 | 50823505-50823510, 50823521, 50823526-50823596, 50823605, 50831526, 50831530, 50831712, 50831764, 50831875, 50831942, 50831945, 50831956-50831964, 50831991, 50831997, 50832000, 50832030-50832032, 50832139, 50832142-50832144, 50832150-50832163, 50832174-50832339 |
| 215 | PRKCG | 19 | 0.99665711556829 | 7 | 2094 | 54393219-54393222, 54393247-54393249 |
| 216 | NLRP7 | 19 | 0.99775208734746 | 7 | 3114 | 55451167-55451173 |
| 217 | TPO | 2 | 0.99964311206281 | 1 | 2802 | 1480989 |
| 218 | KLF11 | 2 | 0.98310591293047 | 26 | 1539 | 10183860-10183885 |
| 219 | APOB | 2 | 0.99664037394099 | 46 | 13692 | 21266752-21266791, 21266796, 21266799-21266803 |
| 220 | OTOF | 2 | 0.9964964964965 | 21 | 5994 | 26699760, 26699769-26699770, 26699775-26699781, 26699818, 26699821, 26699838-26699842, 26699861, 26699899, 26700135, 26700140 |
| 221 | C2orf71 | 2 | 0.99896560641324 | 4 | 3867 | 29296645-29296648 |
| 222 | SPAST | 2 | 0.91410048622366 | 159 | 1851 | 32289015, 32289081-32289134, 32289142, 32289144-32289147, 32289151-32289248, 32289295 |
| 223 | MSH2 | 2 | 0.99928698752228 | 2 | 2805 | 47641556-47641557 |
| 224 | LHCGR | 2 | 0.9952380952381 | 10 | 2100 | 48982761-48982764, 48982767, 48982772-48982776 |
| 225 | SPR | 2 | 0.99872773536896 | 1 | 786 | 73114797 |
| 226 | ALMS1 | 2 | 0.99528150991683 | 59 | 12504 | 73612999-73613047, 73717494, 73718099, 73827996-73828002, 73828342 |
| 227 | DCTN1 | 2 | 0.99765441751368 | 9 | 3837 | 74592662-74592667, 74596477, 74598106-74598107 |
| 228 | MOGS | 2 | 0.99840891010342 | 4 | 2514 | 74689608-74689611 |
| 229 | SFTPB | 2 | 0.99389179755672 | 7 | 1146 | 85895264-85895266, 85895272-85895275 |
| 230 | REEP1 | 2 | 0.95049504950495 | 30 | 606 | 86564602, 86564605-86564633 |
| 231 | EIF2AK3 | 2 | 0.99283795881826 | 24 | 3351 | 88926730-88926752, 88926759 |
| 232 | RANBP2 | 2 | 0.97602067183463 | 232 | 9675 | 109357110-109357116, 109363167-109363170, 109363188-109363213, 109365376-109365379, 109365452-109365458, 109368071-109368111, 109371632-109371662, 109378639-109378651, 109382635-109382641, 109382787-109382793, 109383182-109383188, 109383268-109383274, 109383295-109383321, 109383354-109383360, 109383575-109383591, 109383672-109383678, 109383768-109383780 |
| 233 | MERTK | 2 | 0.99433333333333 | 17 | 3000 | 112656313-112656315, 112656337-112656344, 112656351-112656356 |
| 234 | GLI2 | 2 | 0.99117832388154 | 42 | 4761 | 121746140, 121746144-121746173, 121746182-121746185, 121746370-121746376 |
| 235 | BIN1 | 2 | 0.99046015712682 | 17 | 1782 | 127827639-127827655 |
| 236 | PROC | 2 | 0.99134199134199 | 12 | 1386 | 128180675, 128180691-128180697, 128180712-128180715 |
| 237 | CFC1 | 2 | 0.96279761904762 | 25 | 672 | 131280809-131280816, 131285309-131285325 |
| 238 | NEB | 2 | 0.99889856813858 | 22 | 19974 | 152432707, 152432737, 152432743-152432746, 152432761-152432763, 152432773-152432778, 152432791-152432797 |
| 239 | CACNB4 | 2 | 0.99488163787588 | 8 | 1563 | 152733021, 152733064-152733070 |
| 240 | ACVR1 | 2 | 0.99934640522876 | 1 | 1530 | 158622485 |
| 241 | GALNT3 | 2 | 0.99579390115668 | 8 | 1902 | 166615367-166615374 |
| 242 | SCN1A | 2 | 0.99966649991662 | 2 | 5997 | 166892705, 166915193 |
| 243 | TTN | 2 | 0.99953116271646 | 47 | 100248 | 179393789-179393791, 179414420-179414422, 179490014, 179523795-179523805, 179542853-179542870, 179565895-179565905 |
| 244 | COL3A1 | 2 | 0.99386503067485 | 27 | 4401 | 189854164, 189856917, 189871663-189871675, 189871681-189871686, 189872649-189872653, 189872664 |
| 245 | COL5A2 | 2 | 0.99733333333333 | 12 | 4500 | 189899806-189899817 |
| 246 | ACADL | 2 | 0.99922660479505 | 1 | 1293 | 211053742 |
| 247 | ABCA12 | 2 | 0.9989727786338 | 8 | 7788 | 215797420-215797427 |
| 248 | SMARCAL1 | 2 | 0.99685863874346 | 9 | 2865 | 217347561-217347569 |
| 249 | OBSL1 | 2 | 0.99261992619926 | 42 | 5691 | 220416284-220416286, 220416290, 220435745-220435781, 220435898 |
| 250 | COL4A3 | 2 | 0.9968082984241 | 16 | 5013 | 228162435-228162450 |
| 251 | CHRND | 2 | 0.998712998713 | 2 | 1554 | 233398682, 233398685 |
| 252 | UGT1A1 | 2 | 0.99750312109863 | 4 | 1602 | 234668951-234668954 |
| 253 | D2HGDH | 2 | 0.99489144316731 | 8 | 1566 | 242707285-242707292 |
| 254 | C20orf54 | 20 | 0.9936170212766 | 9 | 1410 | 744325, 744328, 744351-744357 |
| 255 | AVP | 20 | 0.97171717171717 | 14 | 495 | 3063341-3063343, 3063355-3063357, 3063392, 3063623, 3063770-3063771, 3063774-3063775, 3063786, 3063796 |
| 256 | FERMT1 | 20 | 0.99459193706981 | 11 | 2034 | 6088205-6088215 |
| 257 | C20orf7 | 20 | 0.9990366088632 | 1 | 1038 | 13782232 |
| 258 | SNTA1 | 20 | 0.99934123847167 | 1 | 1518 | 32031381 |
| 259 | ADA | 20 | 0.99908424908425 | 1 | 1092 | 43257771 |
| 260 | CTSA | 20 | 0.98864395457582 | 17 | 1497 | 44520221-44520222, 44520232-44520245, 44520248 |
| 261 | CHRNA4 | 20 | 0.99309978768577 | 13 | 1884 | 61992461, 61992465-61992467, 61992471-61992479 |
| 262 | SOX18 | 20 | 0.69004329004329 | 358 | 1155 | 62680512-62680869 |
| 263 | APP | 21 | 0.99740596627756 | 6 | 2313 | 27394181, 27394186-27394190 |
| 264 | IFNGR2 | 21 | 0.94181459566075 | 59 | 1014 | 34775850-34775889, 34775897-34775904, 34775907-34775917 |
| 265 | HLCS | 21 | 0.99954149472719 | 1 | 2181 | 38309515 |
| 266 | TMPRSS3 | 21 | 0.9992673992674 | 1 | 1365 | 43803171 |
| 267 | AIRE | 21 | 0.98901098901099 | 18 | 1638 | 45712927-45712936, 45713051-45713058 |
| 268 | ITGB2 | 21 | 0.99480519480519 | 12 | 2310 | 46308661, 46308671-46308678, 46308681, 46308692, 46308712 |
| 269 | COL18A1 | 21 | 0.9994301994302 | 3 | 5265 | 46875487, 46875490-46875491 |
| 270 | COL6A1 | 21 | 0.99125364431487 | 27 | 3087 | 47401780-47401787, 47401790-47401808 |
| 271 | COL6A2 | 21 | 0.99738562091503 | 8 | 3060 | 47531451-47531458 |
| 272 | PCNT | 21 | 0.99850164818699 | 15 | 10011 | 47801753-47801755, 47832898-47832906, 47851840-47851842 |
| 273 | PRODH | 22 | 0.99944536882973 | 1 | 1803 | 18908902 |
| 274 | GP1BB | 22 | 0.9951690821256 | 3 | 621 | 19711868-19711870 |
| 275 | TBX1 | 22 | 0.88440860215054 | 172 | 1488 | 19748428-19748599 |
| 276 | CHEK2 | 22 | 0.93639977285633 | 112 | 1761 | 29083886-29083917, 29083946-29083965, 29085165-29085171, 29091115-29091145, 29091778-29091791, 29091837-29091844 |
| 277 | MYH9 | 22 | 0.9988101308856 | 7 | 5883 | 36716310-36716316 |
| 278 | TRIOBP | 22 | 0.96294730910116 | 263 | 7098 | 38119798-38119815, 38119856-38119905, 38119976-38119982, 38120031-38120052, 38120150-38120199, 38120297-38120330, 38120394-38120432, 38120444-38120486 |
| 279 | EP300 | 22 | 0.99958592132505 | 3 | 7245 | 41546145, 41550999, 41574186 |
| 280 | TNFRSF13C | 22 | 0.96216216216216 | 21 | 555 | 42322226-42322239, 42322242-42322248 |
| 281 | CYB5R3 | 22 | 0.98123620309051 | 17 | 906 | 43045301-43045316, 43045321 |
| 282 | MLC1 | 22 | 0.99559082892416 | 5 | 1134 | 50502593-50502595, 50502607-50502608 |
| 283 | TYMP | 22 | 0.99930986887509 | 1 | 1449 | 50964716 |
| 284 | SHANK3 | 22 | 0.81807780320366 | 954 | 5244 | 51113070-51113132, 51135958-51136143, 51158726-51159225, 51159451-51159453, 51169180-51169184, 51169436-51169447, 51169470-51169615, 51169657-51169691, 51169718-51169720, 51169735 |
| 285 | FANCD2 | 3 | 0.99139492753623 | 38 | 4416 | 10085536, 10107078-10107093, 10107165-10107171, 10114941-10114947, 10115015-10115021 |
| 286 | RAF1 | 3 | 0.99691833590139 | 6 | 1947 | 12660116-12660121 |
| 287 | XPC | 3 | 0.99752036840241 | 7 | 2823 | 14214468-14214474 |
| 288 | MYL3 | 3 | 0.99319727891156 | 4 | 588 | 46904853-46904856 |
| 289 | COL7A1 | 3 | 0.99988681380872 | 1 | 8835 | 48627134 |
| 290 | FLNB | 3 | 0.99756690997567 | 19 | 7809 | 58062873-58062890, 58084629 |
| 291 | ATXN7 | 3 | 0.89182522903453 | 307 | 2838 | 63898275-63898399, 63898405-63898580, 63898594-63898599 |
| 292 | GBE1 | 3 | 0.99668089141773 | 7 | 2109 | 81754626-81754627, 81754654, 81754671-81754672, 81754692-81754693 |
| 293 | PROS1 | 3 | 0.99212210733629 | 16 | 2031 | 93595880, 93595909, 93605199-93605205, 93617388-93617394 |
| 294 | IQCB1 | 3 | 0.99944351697273 | 1 | 1797 | 121547766 |
| 295 | NPHP3 | 3 | 0.96844477836213 | 126 | 3993 | 132438549-132438674 |
| 296 | FOXL2 | 3 | 0.99557913351017 | 5 | 1131 | 138664657, 138664869-138664871, 138664887 |
| 297 | MRPS22 | 3 | 0.98522622345337 | 16 | 1083 | 139069138-139069149, 139074568-139074571 |
| 298 | PLOD2 | 3 | 0.99956082564778 | 1 | 2277 | 145804628 |
| 299 | IFT80 | 3 | 0.99785223367698 | 5 | 2328 | 159997124, 160099344-160099347 |
| 300 | BCHE | 3 | 0.99944720840243 | 1 | 1809 | 165504036 |
| 301 | SLC2A2 | 3 | 0.98730158730159 | 20 | 1575 | 170715741-170715751, 170715756-170715761, 170715769-170715771 |
| 302 | PLD1 | 3 | 0.99782945736434 | 7 | 3225 | 171379950-171379956 |
| 303 | CLCN2 | 3 | 0.99777530589544 | 6 | 2697 | 184064491-184064496 |
| 304 | OPA1 | 3 | 0.99475065616798 | 16 | 3048 | 193355068-193355070, 193382745-193382757 |
| 305 | FGFR3 | 4 | 0.99093531108364 | 22 | 2427 | 1808897-1808918 |
| 306 | HTT | 4 | 0.98939442146569 | 100 | 9429 | 3076600-3076603, 3076604-3076699 |
| 307 | DOK7 | 4 | 0.996699669967 | 5 | 1515 | 3465233-3465237 |
| 308 | EVC2 | 4 | 0.99974535268653 | 1 | 3927 | 5578101 |
| 309 | EVC | 4 | 0.99731453507889 | 8 | 2979 | 5806562-5806566, 5809995-5809997 |
| 310 | CNGA1 | 4 | 0.96929824561404 | 70 | 2280 | 47954600-47954601, 47954632-47954680, 47972913-47972914, 47972926-47972928, 47972982-47972995 |
| 311 | ALB | 4 | 0.99945355191257 | 1 | 1830 | 74272404 |
| 312 | PKD2 | 4 | 0.98796009631923 | 35 | 2907 | 88928942, 88928952-88928954, 88928957, 88928960, 88929005, 88929008, 88929170-88929196 |
| 313 | SNCA | 4 | 0.98581560283688 | 6 | 423 | 90756702-90756706, 90756717 |
| 314 | MANBA | 4 | 0.99962121212121 | 1 | 2640 | 103644106 |
| 315 | CISD2 | 4 | 0.91176470588235 | 36 | 408 | 103808506-103808522, 103808569-103808587 |
| 316 | BBS7 | 4 | 0.99208566108007 | 17 | 2148 | 122766747-122766751, 122766754, 122775874, 122775962-122775967, 122775972-122775975 |
| 317 | NR3C2 | 4 | 0.99864636209814 | 4 | 2955 | 149356971-149356974 |
| 318 | FGA | 4 | 0.99692425990004 | 8 | 2601 | 155507590, 155507674-155507680 |
| 319 | LRAT | 4 | 0.98412698412698 | 11 | 693 | 155670228-155670238 |
| 320 | GLRB | 4 | 0.99397590361446 | 9 | 1494 | 158041716-158041717, 158041720-158041726 |
| 321 | GK | 4 | 0.9849578820698 | 25 | 1662 | 166199386-166199392, 166199426-166199432, 166199600-166199610 |
| 322 | SDHA | 5 | 0.95689223057644 | 86 | 1995 | 236553-236559, 236646-236681, 251107-251114, 251500-251506, 254526-254532, 254571-254577, 256469-256475, 256511-256517 |
| 323 | TERT | 5 | 0.99264489555752 | 25 | 3399 | 1294566, 1294583, 1294665, 1294986, 1295064, 1295067-1295074, 1295078-1295089 |
| 324 | SDHA | 5 | 0.92354740061162 | 25 | 327 | 1593261-1593285 |
| 325 | DNAH5 | 5 | 0.99675675675676 | 45 | 13875 | 13792284, 13916457-13916499, 13916516 |
| 326 | NIPBL | 5 | 0.99251336898396 | 63 | 8415 | 37022407-37022415, 37036481-37036483, 37036507, 37036516, 37036531-37036562, 37036565-37036569, 37036572-37036578, 37036589, 37048662-37048665 |
| 327 | LIFR | 5 | 0.9996964177292 | 1 | 3294 | 38482709 |
| 328 | OXCT1 | 5 | 0.99680102367242 | 5 | 1563 | 41862778, 41862781, 41862784-41862786 |
| 329 | GHR | 5 | 0.98956703182055 | 20 | 1917 | 42718969-42718988 |
| 330 | ITGA2 | 5 | 0.99971799210378 | 1 | 3546 | 52285339 |
| 331 | ERCC8 | 5 | 0.99664147774979 | 4 | 1191 | 60186734-60186737 |
| 332 | NDUFAF2 | 5 | 0.97450980392157 | 13 | 510 | 60448580-60448592 |
| 333 | SMN2 | 5 | 0.99209039548023 | 7 | 885 | 69359242-69359247, 69362949 |
| 334 | SMN2 | 5 | 0.99209039548023 | 7 | 885 | 70234666-70234671, 70238373 |
| 335 | RASA1 | 5 | 0.94879134860051 | 161 | 3144 | 86669980-86670137, 86674319-86674321 |
| 336 | MEF2C | 5 | 0.99929676511955 | 1 | 1422 | 88024390 |
| 337 | GPR98 | 5 | 0.99889012208657 | 21 | 18921 | 89920961-89920973, 90025517-90025524 |
| 338 | PCSK1 | 5 | 0.99690539345712 | 7 | 2262 | 95746569-95746575 |
| 339 | HSD17B4 | 5 | 0.99231117141565 | 17 | 2211 | 118811520, 118835072-118835079, 118860947, 118872173-118872179 |
| 340 | LMNB1 | 5 | 0.98409994321408 | 28 | 1761 | 126168424-126168451 |
| 341 | FBN2 | 5 | 0.99885570431399 | 10 | 8739 | 127626434, 127702092, 127702103, 127702114-127702120 |
| 342 | TGFBI | 5 | 0.9995126705653 | 1 | 2052 | 135364878 |
| 343 | MYOT | 5 | 0.99599198396794 | 6 | 1497 | 137221840-137221844, 137221867 |
| 344 | MATR3 | 5 | 0.99488993710692 | 13 | 2544 | 138658638-138658650 |
| 345 | DIAPH1 | 5 | 0.99554857292485 | 17 | 3819 | 140909183-140909184, 140953564-140953576, 140960420-140960421 |
| 346 | ADRB2 | 5 | 0.99919484702093 | 1 | 1242 | 148207632 |
| 347 | NIPAL4 | 5 | 0.99643112062812 | 5 | 1401 | 156898680-156898683, 156898690 |
| 348 | MSX2 | 5 | 0.98009950248756 | 16 | 804 | 174151853-174151868 |
| 349 | SQSTM1 | 5 | 0.99924414210128 | 1 | 1323 | 179248050 |
| 350 | FOXC1 | 6 | 0.99819494584838 | 3 | 1662 | 1612018-1612020 |
| 351 | TUBB2B | 6 | 0.99925261584454 | 1 | 1338 | 3225487 |
| 352 | ATXN1 | 6 | 0.9734477124183 | 65 | 2448 | 16327862-16327877, 16327884-16327890, 16327895-16327900, 16327903, 16327914-16327946, 16327950, 16327953 |
| 353 | HLA-H | 6 | 0.94933333333333 | 38 | 750 | 29855849-29855852, 29855856-29855858, 29856309-29856314, 29856318, 29856330, 29856347, 29856353, 29856368, 29856397, 29856406, 29856424-29856427, 29856438, 29856459-29856460, 29856463, 29856516, 29856534, 29856546, 29856550, 29856584-29856586, 29856596, 29856611, 29856643 |
| 354 | TNXB | 6 | 0.94349403836185 | 109 | 1929 | 31976916, 31976926, 31977387-31977395, 31977498-31977510, 31977525-31977555, 31977994-31978002, 31978498-31978527, 31979402-31979409, 31979441-31979447 |
| 355 | CYP21A2 | 6 | 0.98319892473118 | 25 | 1488 | 32006220-32006225, 32006232, 32006337, 32006384-32006390, 32008195-32008201, 32008874, 32008896, 32008904 |
| 356 | TNXB | 6 | 0.9949721109278 | 64 | 12729 | 32009648-32009664, 32010122-32010130, 32010269-32010275, 32010728-32010736, 32011235, 32011248, 32012256-32012263, 32013033-32013040, 32046810-32046813 |
| 357 | HLA-DQA1 | 6 | 0.66927083333333 | 254 | 768 | 32609090-32609315, 32610387-32610407, 32610461, 32610464, 32610478, 32610481, 32610487, 32610495, 32610535 |
| 358 | HLA-DQB1 | 6 | 0.75190839694656 | 195 | 786 | 32629124-32629173, 32629224-32629234, 32632575-32632654, 32632675-32632723, 32632744, 32634300-32634302, 32634336 |
| 359 | COL11A2 | 6 | 0.99904049126847 | 5 | 5211 | 33140131-33140135 |
| 360 | SYNGAP1 | 6 | 0.95238095238095 | 192 | 4032 | 33388042-33388108, 33393613-33393619, 33393630-33393638, 33393659, 33411493, 33411496-33411505, 33411509, 33411513-33411521, 33411543, 33411545-33411585, 33411593, 33411596, 33411604-33411607, 33411626-33411664 |
| 361 | PEX6 | 6 | 0.99796126401631 | 6 | 2943 | 42946369-42946374 |
| 362 | RUNX2 | 6 | 0.98595146871009 | 22 | 1566 | 45390457, 45390460-45390471, 45390478-45390486 |
| 363 | MUT | 6 | 0.98624056813138 | 31 | 2253 | 49409625, 49409639-49409661, 49409672, 49409683-49409684, 49416572-49416575 |
| 364 | EYS | 6 | 0.99915209326974 | 8 | 9435 | 64940572, 64940575-64940580, 66115248 |
| 365 | RIMS1 | 6 | 0.99763733018311 | 12 | 5079 | 73108723-73108726, 73108732, 73108735-73108741 |
| 366 | BCKDHB | 6 | 0.99406276505513 | 7 | 1179 | 81053443-81053449 |
| 367 | PDSS2 | 6 | 0.99916666666667 | 1 | 1200 | 107780274 |
| 368 | SEC63 | 6 | 0.99561979851073 | 10 | 2283 | 108197857-108197866 |
| 369 | ENPP1 | 6 | 0.98740100791937 | 35 | 2778 | 132171185-132171190, 132203486-132203495, 132203498-132203516 |
| 370 | EYA4 | 6 | 0.99895833333333 | 2 | 1920 | 133783580-133783581 |
| 371 | PEX3 | 6 | 0.99910873440285 | 1 | 1122 | 143792198 |
| 372 | SYNE1 | 6 | 0.99920436462832 | 21 | 26394 | 152532699-152532701, 152583237, 152583240, 152599378-152599393 |
| 373 | TBP | 6 | 0.93137254901961 | 70 | 1020 | 170871014-170871017, 170871024-170871033, 170871037-170871049, 170871052, 170871055, 170871058-170871062, 170871065-170871075, 170871078, 170871081-170871100, 170871120-170871123 |
| 374 | LFNG | 7 | 0.92280701754386 | 88 | 1140 | 2559506-2559560, 2559574-2559575, 2559589, 2559597, 2559609-2559610, 2559643-2559646, 2559656-2559662, 2559668, 2559671-2559674, 2559677-2559682, 2559698-2559699, 2559895, 2559899, 2565101 |
| 375 | PMS2 | 7 | 0.98570876786404 | 37 | 2589 | 6013045-6013052, 6013150-6013156, 6026737-6026743, 6026956-6026962, 6026999-6027005, 6037054 |
| 376 | TWIST1 | 7 | 0.74055829228243 | 158 | 609 | 19156759, 19156762, 19156765-19156768, 19156793-19156944 |
| 377 | DNAH11 | 7 | 0.99889478337754 | 15 | 13572 | 21630926-21630940 |
| 378 | HOXA1 | 7 | 0.99702380952381 | 3 | 1008 | 27135317-27135319 |
| 379 | HOXA13 | 7 | 0.82690659811482 | 202 | 1167 | 27239298-27239305, 27239316-27239468, 27239539, 27239545-27239584 |
| 380 | GARS | 7 | 0.99954954954955 | 1 | 2220 | 30640687 |
| 381 | BBS9 | 7 | 0.99737237237237 | 7 | 2664 | 33303972-33303974, 33303978-33303981 |
| 382 | GLI3 | 7 | 0.99915665190808 | 4 | 4743 | 42005850-42005853 |
| 383 | CCM2 | 7 | 0.97752808988764 | 30 | 1335 | 45039933-45039962 |
| 384 | KCTD7 | 7 | 0.99885057471264 | 1 | 870 | 66094179 |
| 385 | SBDS | 7 | 0.9933598937583 | 5 | 753 | 66460277-66460281 |
| 386 | NCF1 | 7 | 0.97454545454545 | 21 | 825 | 72640033-72640039, 72643704-72643710, 72644230-72644236 |
| 387 | ELN | 7 | 0.99862068965517 | 3 | 2175 | 73442561-73442563 |
| 388 | NCF1 | 7 | 0.99829497016198 | 2 | 1173 | 74193642, 74193668 |
| 389 | HGF | 7 | 0.99954275262917 | 1 | 2187 | 81399267 |
| 390 | ABCB4 | 7 | 0.99973958333333 | 1 | 3840 | 87031482 |
| 391 | AKAP9 | 7 | 0.99752644148755 | 29 | 11724 | 91609607-91609625, 91609628-91609630, 91609639-91609644, 91714911 |
| 392 | KRIT1 | 7 | 0.99954771596563 | 1 | 2211 | 91855975 |
| 393 | PEX1 | 7 | 0.99974039460021 | 1 | 3852 | 92116815 |
| 394 | COL1A2 | 7 | 0.994391611802 | 23 | 4101 | 94030920-94030924, 94035562-94035564, 94049725-94049727, 94049730-94049732, 94049736-94049738, 94049921-94049922, 94058739-94058742 |
| 395 | SGCE | 7 | 0.99778761061947 | 3 | 1356 | 94259062-94259064 |
| 396 | SLC26A3 | 7 | 0.99738562091503 | 6 | 2295 | 107414408-107414413 |
| 397 | IFRD1 | 7 | 0.99115044247788 | 12 | 1356 | 112101943-112101954 |
| 398 | CFTR | 7 | 0.97254107584965 | 122 | 4443 | 117188713-117188753, 117188760-117188766, 117188794-117188822, 117188838-117188877, 117235022-117235024, 117235038-117235039 |
| 399 | ATP6V0A4 | 7 | 0.97542608006342 | 62 | 2523 | 138394378-138394424, 138394433, 138394441-138394449, 138394466, 138394475, 138394479-138394480, 138394488 |
| 400 | BRAF | 7 | 0.99304650152108 | 16 | 2301 | 140434441, 140434549-140434556, 140624405-140624408, 140624411-140624413 |
| 401 | PRSS1 | 7 | 0.8508064516129 | 111 | 744 | 142458434-142458454, 142458483-142458514, 142459625-142459629, 142459664-142459682, 142460335, 142460366-142460397, 142460764 |
| 402 | CLCN1 | 7 | 0.99932591843613 | 2 | 2967 | 143047489-143047490 |
| 403 | CNTNAP2 | 7 | 0.99774774774775 | 9 | 3996 | 145813984-145813988, 145813994-145813997 |
| 404 | KCNH2 | 7 | 0.98994252873563 | 35 | 3480 | 150644709-150644714, 150671865-150671876, 150674931, 150674934, 150674979-150674980, 150674989-150675001 |
| 405 | SHH | 7 | 0.99640028797696 | 5 | 1389 | 155595800-155595804 |
| 406 | MNX1 | 7 | 0.90298507462687 | 117 | 1206 | 156799286-156799294, 156802652-156802756, 156802778-156802780 |
| 407 | CLN8 | 8 | 0.99883855981417 | 1 | 861 | 1728669 |
| 408 | ADAM9 | 8 | 0.99674796747967 | 8 | 2460 | 38871513-38871517, 38912090-38912092 |
| 409 | ANK1 | 8 | 0.99894625922023 | 6 | 5694 | 41566375-41566380 |
| 410 | CHD7 | 8 | 0.99766511007338 | 21 | 8994 | 61654443, 61713041-61713042, 61713046-61713048, 61734587, 61741346-61741358, 61749516 |
| 411 | TMEM67 | 8 | 0.99966532797858 | 1 | 2988 | 94768069 |
| 412 | VPS13B | 8 | 0.99933299983325 | 8 | 11994 | 100050738-100050740, 100123383, 100123413-100123415, 100123425 |
| 413 | EXT1 | 8 | 0.99687639446676 | 7 | 2241 | 119122387-119122393 |
| 414 | KIAA0196 | 8 | 0.99971264367816 | 1 | 3480 | 126073370 |
| 415 | KCNQ3 | 8 | 0.99961817487591 | 1 | 2619 | 133492749 |
| 416 | CYP11B1 | 8 | 0.97222222222222 | 42 | 1512 | 143957128-143957132, 143957195-143957210, 143958513-143958533 |
| 417 | CYP11B2 | 8 | 0.95171957671958 | 73 | 1512 | 143993947-143993994, 143994026-143994032, 143994069-143994075, 143994702, 143994724, 143994816-143994822, 143996539, 143996553 |
| 418 | PLEC | 8 | 0.9977232301672 | 32 | 14055 | 144994386, 144995066-144995070, 144996227-144996229, 144996239-144996250, 144996257-144996258, 144996374-144996381, 144996532 |
| 419 | GPT | 8 | 0.99932930918846 | 1 | 1491 | 145731300 |
| 420 | DOCK8 | 9 | 0.99857142857143 | 9 | 6300 | 406998-407006 |
| 421 | VLDLR | 9 | 0.99961861174676 | 1 | 2622 | 2622220 |
| 422 | KCNV2 | 9 | 0.98046398046398 | 32 | 1638 | 2718764-2718766, 2718958, 2718962-2718989 |
| 423 | JAK2 | 9 | 0.99617534568991 | 13 | 3399 | 5077453-5077460, 5077476, 5077501-5077504 |
| 424 | FANCG | 9 | 0.99785981808454 | 4 | 1869 | 35079199-35079202 |
| 425 | NPR2 | 9 | 0.99936386768448 | 2 | 3144 | 35792406-35792407 |
| 426 | GNE | 9 | 0.99911582670203 | 2 | 2262 | 36217448-36217449 |
| 427 | VPS13A | 9 | 0.99233595800525 | 73 | 9525 | 79841401-79841422, 79897177-79897190, 79932576-79932608, 79934589, 79996925-79996926, 79996930 |
| 428 | FOXE1 | 9 | 0.99554367201426 | 5 | 1122 | 100616700-100616703, 100616709 |
| 429 | TGFBR1 | 9 | 0.99537037037037 | 7 | 1512 | 101867538-101867540, 101867552-101867555 |
| 430 | IKBKAP | 9 | 0.9964991247812 | 14 | 3999 | 111660789-111660802 |
| 431 | NR5A1 | 9 | 0.98989898989899 | 14 | 1386 | 127245161-127245174 |
| 432 | LMX1B | 9 | 0.99195710455764 | 9 | 1119 | 129376854, 129376858, 129458195-129458201 |
| 433 | DOLK | 9 | 0.99938157081014 | 1 | 1617 | 131709033 |
| 434 | SETX | 9 | 0.99962658700523 | 3 | 8034 | 135139887, 135139894-135139895 |
| 435 | TSC1 | 9 | 0.99914163090129 | 3 | 3495 | 135771988-135771990 |
| 436 | CEL | 9 | 0.88243064729194 | 267 | 2271 | 135944521-135944528, 135944583-135944589, 135945985-135946018, 135946752-135946969 |
| 437 | SURF1 | 9 | 0.99889258028793 | 1 | 903 | 136223307 |
| 438 | ADAMTS13 | 9 | 0.99929971988796 | 3 | 4284 | 136293826-136293828 |
| 439 | COL5A1 | 9 | 0.99764364690955 | 13 | 5517 | 137534087-137534097, 137534100-137534101 |
| 440 | LHX3 | 9 | 0.98097601323408 | 23 | 1209 | 139090889-139090892, 139094817-139094835 |
| 441 | INPP5E | 9 | 0.99586563307494 | 8 | 1935 | 139333331-139333334, 139333343-139333346 |
| 442 | NOTCH1 | 9 | 0.99986958789776 | 1 | 7668 | 139440205 |
| 443 | AGPAT2 | 9 | 0.96654719235364 | 28 | 837 | 139581755-139581782 |
| 444 | SLC34A3 | 9 | 0.97888888888889 | 38 | 1800 | 140128342-140128355, 140128359, 140128597, 140128606, 140128611-140128631 |
| 445 | CSF2RA | X | 0.98390804597701 | 21 | 1305 | 1407754-1407767, 1422209-1422215 |
| 446 | ARX | X | 0.99822380106572 | 3 | 1689 | 25031777-25031779 |
| 447 | RPGR | X | 0.96126047990749 | 134 | 3459 | 38145342-38145377, 38145386-38145462, 38145518-38145520, 38145533-38145534, 38145538-38145541, 38145545-38145551, 38145568, 38145602-38145605 |
| 448 | TSPAN7 | X | 0.99333333333333 | 5 | 750 | 38546871-38546875 |
| 449 | AR | X | 0.98117987694535 | 52 | 2763 | 66765159-66765203, 66766357-66766359, 66766380-66766383 |
| 450 | MED12 | X | 0.99892868074686 | 7 | 6534 | 70338662, 70361105-70361110 |
| 451 | TAF1 | X | 0.98081661386836 | 109 | 5682 | 70586165-70586269, 70586285, 70586313-70586315 |
| 452 | SLC16A2 | X | 0.98697068403909 | 24 | 1842 | 73641379-73641385, 73641389-73641391, 73641395-73641408 |
| 453 | BRWD3 | X | 0.99500831946755 | 27 | 5409 | 80064944-80064970 |
| 454 | ZIC3 | X | 0.99074074074074 | 13 | 1404 | 136651118-136651123, 136651132, 136651136-136651141 |
| 455 | SLC6A8 | X | 0.94339622641509 | 108 | 1908 | 152954052-152954055, 152954068-152954084, 152954105-152954106, 152954109-152954116, 152954122-152954165, 152954186-152954197, 152954216-152954236 |
| 456 | ABCD1 | X | 0.98302055406613 | 38 | 2238 | 153008473-153008486, 153008675-153008678, 153009014-153009033 |
| 457 | MECP2 | X | 0.95858383433534 | 62 | 1497 | 153363061-153363122 |
| 458 | OPN1MW | X | 0.96529680365297 | 38 | 1095 | 153453337-153453343, 153453443-153453449, 153457286-153457309 |
| 459 | OPN1MW | X | 0.96529680365297 | 38 | 1095 | 153490455-153490461, 153490561-153490567, 153494404-153494427 |
| Effect rank | Variant | Phase/ Zygosity | Allele freq | Impact | Evaluation | Summary / Info |
|---|---|---|---|---|---|---|
| 2.5 | EDNRB-G57S | het unknown | Unknown pathogenic | Insufficiently evaluated | Prioritization score: 4 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview | |
| 2.5 | FLG-R3814C | het unknown | Unknown | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview | |
| 2.5 | FLG-S761Shift | het unknown | 0.008 | Complex/Other pathogenic | Moderate clinical importance, uncertain | Based on other severe variants in the same gene, this variant is likely to cause ichthyosis vulgaris when homozygous or compound heterozygous with another severe variant. There is incomplete dominance, with heterozygotes generally having a very mild phenotype: some palmar hyperlinearity, keratosis pilaris and, in some cases fine scale. |
| 2 | APOB-S4338N | homozygous | 0.725 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests |
| 2 | APOB-I2313V | homozygous | 0.964 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests |
| 2 | APOB-Y1422C | homozygous | 0.994 | Unknown benign | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests |
| 2 | APOB-T98I | homozygous | 0.149 | Unknown pharmacogenetic | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests |
| 2 | PCSK9-V474I | het unknown | 0.859 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests |
| 2 | PCSK9-G670E | homozygous | 0.848 | Unknown benign | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests |
| 2 | ALAD-K59N | het unknown | 0.060 | Unknown pathogenic | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests |
| 2 | C3-P314L | het unknown | 0.079 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: 0.159 (benign), Testable gene in GeneTests with associated GeneReview |
| 2 | C3-R102G | het unknown | 0.053 | Complex/Other pathogenic | Moderate clinical importance, likely | 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%. |
| 2 | AGRP-A67T | het unknown | 0.032 | Unknown pathogenic | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.857 (probably damaging) |
| 2 | NEFL-S472Shift | homozygous | Unknown | Insufficiently evaluated | Prioritization score: 4 Frameshift, Testable gene in GeneTests with associated GeneReview | |
| 2 | SP110-M523T | het unknown | 0.319 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 2 | SP110-L425S | homozygous | 0.875 | Unknown pathogenic | Low clinical importance, uncertain | This variant is associated with a slightly increased risk of tuberculosis. It is unclear whether it is itself causal, or in linkage disequilibrium with some other causal variant that has a stronger effect. |
| 2 | SP110-G299R | het unknown | 0.822 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 2 | SP110-E207K | het unknown | 0.087 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 2 | SP110-A128V | het unknown | 0.078 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 2 | SP110-W112R | homozygous | 0.945 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 1.5 | PRNP-M129V | het unknown | 0.258 | Complex/Other protective | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: 0.628 (possibly damaging), Testable gene in GeneTests with associated GeneReview |
| 1.5 | MPO-A332V | het unknown | Unknown pathogenic | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: 0.022 (benign) | |
| 1.5 | PRKCH-V374I | het unknown | 0.015 | Unknown pathogenic | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: Unknown |
| 1.5 | ITGAM-R77H | het unknown | 0.095 | Unknown pathogenic | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: 0.048 (benign) |
| 1.5 | ITGAM-A859V | het unknown | 0.136 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 1.5 | ITGAM-P1147S | het unknown | 0.141 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 1.25 | AMPD1-P48L | het unknown | 0.047 | Unknown benign | Insufficiently evaluated | Prioritization score: 4 Polyphen 2: 0.999 (probably damaging), Testable gene in GeneTests |
| 1.25 | AMPD1-Q12* | het unknown | 0.041 | Recessive pathogenic | Low clinical importance, likely | Causes Adenosine Deaminase Deficiency in a recessive manner. Most of the time individuals do not report symptoms, but when symptoms do exist they to be post-exercise symptoms of muscle weakness, muscle pain, and getting tired more quickly. |
| 1 | CNGB3-K733KQKENEDK | homozygous | Unknown | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview | |
| 1 | CNGB3-T298P | homozygous | 0.681 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: 0.007 (benign), Testable gene in GeneTests with associated GeneReview |
| 1 | CNGB3-C234W | homozygous | 0.939 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 1 | GSPT1-V100A | homozygous | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: Unknown | |
| 1 | GSPT1-G92C | homozygous | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.999 (probably damaging) | |
| 1 | ABCC11-A317E | het unknown | 0.133 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 1 | ABCC11-G180R | het unknown | 0.323 | Unknown benign | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: 0.992 (probably damaging) |
| 1 | ABCC11-R19H | het unknown | 0.130 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 1 | CLECL1-S52Shift | homozygous | 0.008 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Frameshift |
| 1 | CTDP1-T340M | homozygous | 0.085 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: 0.006 (benign), Testable gene in GeneTests with associated GeneReview |
| 1 | OPN1MW-M153L | homozygous | 0.015 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.031 (benign), Testable gene in GeneTests with associated GeneReview |
| 1 | PLEKHA2-P389Shift | homozygous | 0.032 | 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 | C14orf104-D768G | het unknown | Unknown | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview | |
| 1 | C14orf104-K644S | het unknown | 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 | TTN-I32964T | het unknown | Unknown | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview | |
| 1 | TTN-A19840P | homozygous | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview | |
| 1 | TTN-E13147G | het unknown | Unknown | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview | |
| 1 | TTN-S3419N | homozygous | 0.850 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 1 | TTN-V3261M | homozygous | 0.840 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 1 | TTN-S1295L | homozygous | 0.881 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 1 | TTN-K1201E | homozygous | 0.519 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 1 | TTN-T811I | homozygous | 0.146 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 1 | LRRK2-R50H | homozygous | 0.927 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 1 | LRRK2-I723V | homozygous | 0.057 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 1 | LRRK2-M2106V | het unknown | Unknown | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview | |
| 1 | ZNF598-G42Shift | homozygous | Unknown | Insufficiently evaluated | Prioritization score: 2 Frameshift | |
| 1 | ZNF598-E25G | homozygous | Unknown | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: Unknown | |
| 1 | ZNF598-E17A | homozygous | Unknown | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: Unknown | |
| 1 | ZNF598-DM13AL | homozygous | Unknown | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: Unknown | |
| 1 | ZNF598-G6Shift | homozygous | Unknown | Insufficiently evaluated | Prioritization score: 2 Frameshift | |
| 1 | APOE-R176C | het unknown | 0.073 | Complex/Other pharmacogenetic | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: 1.0 (probably damaging), Testable gene in GeneTests |
| 1 | CUL7-Q813R | homozygous | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview | |
| 1 | NR_027242-N339Shift | het unknown | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Frameshift | |
| 1 | NR_027242-L114P | homozygous | Unknown | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: Unknown | |
| 1 | NR_027242-Q97Shift | homozygous | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Frameshift | |
| 1 | NR_027242-L22P | homozygous | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: Unknown | |
| 1 | RGPD4-D761G | homozygous | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown | |
| 1 | FAM55B-V103A | homozygous | 0.093 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.871 (probably damaging) |
| 1 | TG-G653D | het unknown | 0.010 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 4 Polyphen 2: 0.957 (probably damaging), Testable gene in GeneTests |
| 1 | TG-S734A | het unknown | 0.698 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests |
| 1 | TG-M1028V | het unknown | 0.696 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: 0.003 (benign), Testable gene in GeneTests |
| 1 | TG-D1312G | homozygous | 0.344 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests |
| 1 | TG-D1838N | homozygous | 0.304 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: 0.061 (benign), Testable gene in GeneTests |
| 1 | TG-W2501R | het unknown | 0.566 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: 0.031 (benign), Testable gene in GeneTests |
| 1 | TG-R2530Q | homozygous | 0.586 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.003 (benign), Testable gene in GeneTests |
| 1 | HSH2D-S223Shift | homozygous | 0.016 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Frameshift |
| 1 | C19orf55-G398Shift | homozygous | Unknown | Insufficiently evaluated | Prioritization score: 2 Frameshift | |
| 1 | PIK3R6-L609Shift | homozygous | Unknown | Insufficiently evaluated | Prioritization score: 2 Frameshift | |
| 1 | IL7R-I66T | homozygous | 0.597 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests |
| 1 | IL7R-V138I | homozygous | 0.689 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests |
| 1 | IL7R-T244I | het unknown | 0.150 | Unknown protective | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests |
| 1 | IL7R-I356V | het unknown | 0.214 | Unknown pharmacogenetic | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests |
| 1 | GPR56-S281R | homozygous | 0.750 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 1 | GPR56-Q306H | homozygous | 0.094 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 1 | TYR-R402Q | het unknown | 0.063 | Complex/Other benign | Insufficiently evaluated | Prioritization score: 4 Polyphen 2: 0.997 (probably damaging), Testable gene in GeneTests with associated GeneReview |
| 1 | SGCG-R116H | homozygous | 0.056 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.995 (probably damaging), Testable gene in GeneTests |
| 1 | SGCG-N287S | homozygous | 0.843 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests |
| 1 | GATSL1-N17K | homozygous | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown | |
| 1 | ZFPM1-R22G | het unknown | 0.569 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 1 | ZFPM1-E444Shift | homozygous | Unknown | Insufficiently evaluated | Prioritization score: 2 Frameshift | |
| 1 | ZFPM1-L446Shift | homozygous | Unknown | Insufficiently evaluated | Prioritization score: 2 Frameshift | |
| 1 | ALG1L2-L157Shift | homozygous | Unknown | Insufficiently evaluated | Prioritization score: 2 Frameshift | |
| 1 | KRT10-H487Y | homozygous | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests | |
| 1 | KRT10-G126S | het unknown | 0.109 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests |
| 1 | KRT10-I101S | homozygous | 1.000 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: Unknown, Testable gene in GeneTests |
| 1 | SEBOX-L207S | homozygous | 0.913 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 1 | SEBOX-W10Shift | homozygous | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Frameshift | |
| 1 | TP53-P72R | het unknown | 0.550 | Unknown pathogenic | Low clinical importance, uncertain | This is a common variant was first reported as a polymorphism. It has since had mixed associations with cancer: Storey et al. conclude a 7x *increased* risk of HPV cancer for homozygotes vs hets, but Jones et al. find a 1.98x *decreased* risk for colorectal cancer. This variant may have significant impact on particular cancers, but it is unclear what effect it has on the overall burden of cancer. |
| 1 | HTT-Y2309H | homozygous | 0.459 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 1 | HTT-V2786I | homozygous | 0.193 | Unknown pharmacogenetic | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 1 | RAI1-G90A | homozygous | 0.281 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 1 | RAI1-P165T | homozygous | 0.542 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 4 Polyphen 2: 0.999 (probably damaging), Testable gene in GeneTests with associated GeneReview |
| 1 | C17orf103-C16Shift | homozygous | Unknown | Insufficiently evaluated | Prioritization score: 2 Frameshift | |
| 1 | WFS1-V333I | homozygous | 0.889 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 1 | WFS1-R611H | homozygous | 0.442 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 4 Polyphen 2: 0.99 (probably damaging), Testable gene in GeneTests with associated GeneReview |
| 1 | AKAP9-M463I | homozygous | 0.376 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: Unknown, Testable gene in GeneTests |
| 1 | AKAP9-K1335KQ | homozygous | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests | |
| 1 | AKAP9-N2792S | homozygous | 0.271 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: Unknown, Testable gene in GeneTests |
| 1 | AP1S2-T35A | homozygous | Unknown | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests | |
| 1 | AP1S2-R29P | homozygous | Unknown | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests | |
| 1 | ATG9B-A765Shift | homozygous | Unknown | Insufficiently evaluated | Prioritization score: 2 Frameshift | |
| 1 | ATG9B-N493S | het unknown | 0.079 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 1 | TGIF1-S18L | het unknown | 0.016 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 1 | TGIF1-P83Shift | het unknown | 0.139 | Complex/Other pathogenic | Low clinical importance, uncertain | Severe variants in this gene are associated with holoprosencephaly disorders when combined with loss-of-function variants in SHH. Haploinsufficiency was identified in some families with this condition. It is unclear how likely this variant is to occur in combination with an SHH variant, or what phenotypic effect the variant would have on its own. |
| 1 | TGIF1-P292L | het unknown | 0.073 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 1 | NPC1-I858V | het unknown | 0.480 | 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 | 0.863 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 1 | NPC1-H215R | het unknown | 0.222 | Complex/Other protective | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 1 | AX746903-T82Shift | homozygous | Unknown | Insufficiently evaluated | Prioritization score: 2 Frameshift | |
| 1 | USP9Y-E65D | homozygous | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.011 (benign), Testable gene in GeneTests with associated GeneReview | |
| 1 | ZNF167-N494Shift | homozygous | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Frameshift | |
| 1 | SYNE1-F7302V | homozygous | 0.991 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 1 | SYNE1-L5015M | homozygous | 0.866 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 1 | SYNE1-S4596T | homozygous | 0.800 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 1 | SYNE1-K4121R | homozygous | 0.835 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 1 | SYNE1-E4060D | het unknown | 0.539 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.005 (benign), Testable gene in GeneTests with associated GeneReview |
| 1 | SYNE1-L3050V | het unknown | Unknown | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview | |
| 1 | SYNE1-N1915Shift | het unknown | 0.008 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 4 Frameshift, Testable gene in GeneTests with associated GeneReview |
| 1 | KCP-H313Shift | homozygous | Unknown | Insufficiently evaluated | Prioritization score: 2 Frameshift | |
| 1 | KCP-A16Shift | homozygous | Unknown | Insufficiently evaluated | Prioritization score: 2 Frameshift | |
| 1 | LYZ-T88N | het unknown | 0.021 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 4 Polyphen 2: 0.923 (probably damaging), Testable gene in GeneTests |
| 1 | KRT4-Q230R | het unknown | 0.301 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: Unknown, 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 | KRT4-A146V | het unknown | 0.241 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: Unknown, Testable gene in GeneTests |
| 1 | PCDH11Y-V917F | homozygous | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: Unknown | |
| 1 | PCDH11Y-N1012K | homozygous | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown | |
| 1 | CCDC66-D5Shift | homozygous | Unknown | Insufficiently evaluated | Prioritization score: 2 Frameshift | |
| 1 | CCDC66-Q383R | homozygous | 0.934 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 1 | CCDC66-R460Q | homozygous | 0.206 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: 0.999 (probably damaging) |
| 1 | DLL3-F172C | het unknown | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 5 Polyphen 2: 0.981 (probably damaging), Testable gene in GeneTests with associated GeneReview | |
| 1 | DLL3-L218P | het unknown | 0.650 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 1 | LOXL1-R141L | het unknown | Unknown pharmacogenetic | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.998 (probably damaging) | |
| 1 | PRDM15-S1481P | homozygous | 0.995 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 1 | PRDM15-G124D | het unknown | 0.044 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: Unknown |
| 1 | PRDM15-R88Shift | homozygous | Unknown | Insufficiently evaluated | Prioritization score: 2 Frameshift | |
| 1 | COL18A1-V144I | het unknown | 0.016 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests |
| 1 | COL18A1-PGP1362Del | homozygous | Unknown | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests | |
| 1 | COL6A2-S399N | homozygous | 0.727 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 1 | COL6A2-R680H | homozygous | 0.389 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 4 Polyphen 2: 0.999 (probably damaging), Testable gene in GeneTests with associated GeneReview |
| 1 | AHNAK2-P5397A | het unknown | 0.435 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: 0.149 (benign) |
| 1 | AHNAK2-Y5184D | het unknown | 0.626 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 1 | AHNAK2-G5139E | het unknown | 0.273 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: 0.417 (possibly damaging) |
| 1 | AHNAK2-T4664A | het unknown | 0.558 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: 0.001 (benign) |
| 1 | AHNAK2-M4536L | het unknown | 0.426 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: 0.267 (possibly damaging) |
| 1 | AHNAK2-L4326P | het unknown | 0.548 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: 0.001 (benign) |
| 1 | AHNAK2-L4321V | het unknown | 0.540 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: 0.003 (benign) |
| 1 | AHNAK2-V4278A | het unknown | 0.466 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: 0.001 (benign) |
| 1 | AHNAK2-M3961V | het unknown | 0.371 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 1 | AHNAK2-M3869V | het unknown | 0.558 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: 0.04 (benign) |
| 1 | AHNAK2-D3793N | het unknown | 0.555 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: 0.04 (benign) |
| 1 | AHNAK2-G3654E | het unknown | 0.555 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: 0.204 (possibly damaging) |
| 1 | AHNAK2-S3510P | het unknown | 0.016 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: 0.017 (benign) |
| 1 | AHNAK2-V3363A | het unknown | 0.542 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: 0.009 (benign) |
| 1 | AHNAK2-P3336L | het unknown | 0.333 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: 0.998 (probably damaging) |
| 1 | AHNAK2-M3260T | het unknown | 0.174 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: 0.04 (benign) |
| 1 | AHNAK2-R3241H | het unknown | 0.329 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: 0.233 (possibly damaging) |
| 1 | AHNAK2-R2862S | het unknown | 0.563 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: 0.021 (benign) |
| 1 | AHNAK2-G2517V | het unknown | 0.533 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: 0.04 (benign) |
| 1 | AHNAK2-E2503A | homozygous | 0.904 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: 0.778 (possibly damaging) |
| 1 | AHNAK2-P2387S | het unknown | 0.533 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: 0.011 (benign) |
| 1 | AHNAK2-L2333P | het unknown | 0.548 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: 0.002 (benign) |
| 1 | AHNAK2-K2170R | het unknown | 0.107 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: 0.04 (benign) |
| 1 | AHNAK2-P2014S | homozygous | 0.163 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: 0.006 (benign) |
| 1 | AHNAK2-E1856D | het unknown | 1.000 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 1 | AHNAK2-V1610A | homozygous | 0.596 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 1 | AHNAK2-A1405V | homozygous | 0.040 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: 0.651 (possibly damaging) |
| 1 | AHNAK2-G1404E | homozygous | 0.040 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.991 (probably damaging) |
| 1 | AHNAK2-T1383A | homozygous | Unknown | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: Unknown | |
| 1 | AHNAK2-M1298I | homozygous | 0.830 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: 0.016 (benign) |
| 1 | AHNAK2-A1175V | het unknown | 1.000 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 1 | AHNAK2-E1148D | het unknown | 0.974 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: 0.002 (benign) |
| 1 | AHNAK2-V1133I | het unknown | 0.421 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: 0.003 (benign) |
| 1 | TNXB-R48P | homozygous | Unknown | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview | |
| 1 | NR_027127-W61* | homozygous | Unknown | Insufficiently evaluated | Prioritization score: 2 Nonsense mutation | |
| 1 | SHROOM1-P180L | homozygous | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.976 (probably damaging) | |
| 1 | MYO3A-R319H | homozygous | 0.376 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: Unknown, Testable gene in GeneTests |
| 1 | MYO3A-I348V | homozygous | 0.678 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: Unknown, Testable gene in GeneTests |
| 1 | MYO3A-V369I | homozygous | 0.642 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: Unknown, Testable gene in GeneTests |
| 1 | MYO3A-A833S | homozygous | 0.049 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: 0.997 (probably damaging), Testable gene in GeneTests |
| 1 | MYO3A-S956N | homozygous | 0.443 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests |
| 1 | MYO3A-T1284S | homozygous | 0.406 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: 0.002 (benign), Testable gene in GeneTests |
| 1 | MYO3A-R1313S | homozygous | 0.620 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests |
| 1 | KRTAP7-1-I61S | het unknown | Unknown | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: Unknown | |
| 1 | KRTAP7-1-S51P | het unknown | Unknown | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: Unknown | |
| 1 | KRTAP7-1-Y17Shift | homozygous | Unknown | Insufficiently evaluated | Prioritization score: 2 Frameshift | |
| 1 | NPRL3-L489Shift | homozygous | 0.048 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Frameshift |
| 1 | ABCC2-Y39F | homozygous | 0.990 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests |
| 1 | ABCC2-V1188E | het unknown | 0.086 | Unknown pharmacogenetic | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests |
| 1 | ABCC2-C1515Y | het unknown | 0.095 | Unknown pharmacogenetic | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests |
| 1 | DPYD-R29C | homozygous | 0.731 | Complex/Other pharmacogenetic | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests |
| 1 | SCARF2-DV772EL | homozygous | Unknown | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: Unknown | |
| 1 | SCARF2-E764Shift | homozygous | Unknown | Insufficiently evaluated | Prioritization score: 2 Frameshift | |
| 1 | SCARF2-P747Shift | homozygous | Unknown | Insufficiently evaluated | Prioritization score: 2 Frameshift | |
| 1 | SCARF2-A745Shift | homozygous | Unknown | Insufficiently evaluated | Prioritization score: 2 Frameshift | |
| 1 | VCX-A70G | homozygous | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown | |
| 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 | 0.080 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 1 | RHD-M170R | homozygous | Unknown | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: Unknown | |
| 1 | RHD-E193K | homozygous | Unknown | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: Unknown | |
| 1 | RHD-K198N | homozygous | Unknown | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: Unknown | |
| 1 | RHD-T201R | homozygous | 0.017 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: 0.001 (benign) |
| 1 | RHD-V238M | homozygous | Unknown | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: Unknown | |
| 1 | RHD-V245L | homozygous | 0.009 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: Unknown |
| 1 | RHD-G263R | homozygous | 0.025 | 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-I342T | homozygous | Unknown | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: Unknown | |
| 1 | RHD-M379T | homozygous | 0.956 | 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 | BC112980-K147Shift | homozygous | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Frameshift | |
| 1 | PADI6-V343Shift | homozygous | 0.016 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Frameshift |
| 1 | DGKK-L1014Shift | homozygous | Unknown | Insufficiently evaluated | Prioritization score: 2 Frameshift | |
| 1 | MXRA5-L2531V | homozygous | 0.598 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 1 | MXRA5-G2000S | homozygous | 0.722 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 1 | MXRA5-P1665S | homozygous | 0.417 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: 0.988 (probably damaging) |
| 1 | MXRA5-G1394D | homozygous | 0.769 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 1 | MXRA5-A1128V | homozygous | 0.547 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 1 | MXRA5-I824V | homozygous | 0.795 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 1 | MXRA5-D222N | homozygous | 0.011 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.978 (probably damaging) |
| 1 | ZNF204P-K6Shift | homozygous | Unknown | Insufficiently evaluated | Prioritization score: 2 Frameshift | |
| 1 | HLA-H-E34M | homozygous | Unknown | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview | |
| 1 | HLA-H-C238S | homozygous | 0.729 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 1 | SFTPA2-T9N | homozygous | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown | |
| 1 | LARGE-R665H | het unknown | 0.005 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 4 Polyphen 2: 0.99 (probably damaging), Testable gene in GeneTests |
| 1 | CYP2C9-R144C | het unknown | 0.027 | Unknown pharmacogenetic | Moderate clinical importance, well-established | This variant, also called CYP2C9*2, is a pharmacogenetic variant that modulates sensitivity for Warfarin (due to reduced metabolism). This variant is associated with Caucasians. The FDA has approved reduced recommended Warfarin dosage based on the presence of this variant. |
| 1 | TCEAL6-Q175Shift | homozygous | 0.022 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Frameshift |
| 1 | HRNR-Q2781H | homozygous | 0.395 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 1 | HRNR-A2764S | homozygous | 0.559 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 1 | HRNR-H2762Q | homozygous | 0.569 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 1 | HRNR-R2761Q | homozygous | 0.600 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 1 | HRNR-S799T | homozygous | 0.569 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 1 | HRNR-F669S | het unknown | 0.081 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 1 | HRNR-G492R | homozygous | 0.588 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 1 | HRNR-E473G | homozygous | 0.951 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 1 | HRNR-G427D | het unknown | 0.357 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 1 | HRNR-Q376R | homozygous | 1.000 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 1 | HRNR-H273Q | het unknown | 0.383 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 1 | HRNR-R85H | homozygous | 0.553 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: 0.078 (benign) |
| 1 | HRNR-M1Shift | homozygous | Unknown | Insufficiently evaluated | Prioritization score: 2 Frameshift | |
| 1 | ZNF480-C3Shift | homozygous | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Frameshift | |
| 1 | MAGEC1-S267L | homozygous | Unknown | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: Unknown | |
| 1 | MAGEC1-F276S | homozygous | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown | |
| 1 | MAGEC1-H327Q | homozygous | 0.541 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 1 | MAGEC1-T364A | homozygous | 0.165 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 1 | GNRH2-A16V | homozygous | 0.229 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: 0.697 (possibly damaging) |
| 1 | GNRH2-S116Shift | homozygous | 0.031 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Frameshift |
| 1 | VCAN-K349E | het unknown | 0.008 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 4 Polyphen 2: 0.98 (probably damaging), Testable gene in GeneTests with associated GeneReview |
| 1 | VCAN-G428D | het unknown | 0.215 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: 0.923 (probably damaging), Testable gene in GeneTests with associated GeneReview |
| 1 | LRP5-A1330V | het unknown | 0.120 | Complex/Other pathogenic | Low clinical importance, uncertain | 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 | TOR1A-D216H | het unknown | 0.089 | Unknown protective | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: 0.205 (possibly damaging), Testable gene in GeneTests with associated GeneReview |
| 1 | F5-D2222G | het unknown | 0.038 | Unknown benign | Insufficiently evaluated | Prioritization score: 4 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 1 | F5-M1764V | het unknown | 0.273 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 1 | F5-N817T | het unknown | 0.037 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 1 | F5-Q534R | homozygous | 0.991 | Unknown pharmacogenetic | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 1 | F5-M413T | het unknown | 0.041 | Unknown benign | Insufficiently evaluated | Prioritization score: 4 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 1 | HADHB-T2TT | homozygous | 0.008 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests |
| 1 | AK094914-K152N | homozygous | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: Unknown | |
| 1 | AK094914-T33Shift | homozygous | Unknown | Insufficiently evaluated | Prioritization score: 2 Frameshift | |
| 1 | AK094914-M25Shift | homozygous | Unknown | Insufficiently evaluated | Prioritization score: 2 Frameshift | |
| 1 | FAM58A-Q15Shift | homozygous | Unknown | Insufficiently evaluated | Prioritization score: 3 Frameshift, Testable gene in GeneTests | |
| 1 | FAM58A-G4Shift | homozygous | Unknown | Insufficiently evaluated | Prioritization score: 3 Frameshift, Testable gene in GeneTests | |
| 1 | B3GNT6-L316Shift | homozygous | Unknown | Insufficiently evaluated | Prioritization score: 2 Frameshift | |
| 1 | B3GNT6-L335Shift | homozygous | Unknown | Insufficiently evaluated | Prioritization score: 2 Frameshift | |
| 1 | ALX4-P102S | homozygous | 0.217 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 1 | ALX4-R35T | homozygous | 0.393 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 4 Polyphen 2: 0.985 (probably damaging), Testable gene in GeneTests with associated GeneReview |
| 1 | VSIG10L-Q860Shift | homozygous | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Frameshift | |
| 1 | ZNF761-L47Shift | homozygous | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Frameshift | |
| 1 | ZNF761-I122S | homozygous | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: Unknown | |
| 1 | ZNF761-V168I | homozygous | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: Unknown | |
| 1 | ZNF761-G528S | homozygous | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: Unknown | |
| 1 | ZNF761-E603Q | homozygous | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: Unknown | |
| 1 | RAPSN-R205Q | het unknown | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 4 Polyphen 2: 0.852 (probably damaging), Testable gene in GeneTests with associated GeneReview | |
| 0.75 | CILP-G1166S | het unknown | 0.766 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 0.75 | CILP-Q979R | homozygous | 0.986 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 0.75 | CILP-K575E | homozygous | 0.974 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 0.75 | CILP-I395T | het unknown | 0.491 | Unknown pathogenic | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 0.75 | HNMT-T105I | het unknown | 0.112 | Complex/Other pathogenic | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: 0.821 (possibly damaging) |
| 0.75 | AKAP10-I646V | het unknown | 0.434 | Unknown pathogenic | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 0.75 | AKAP10-R249H | het unknown | 0.427 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 0.75 | BLMH-I443V | het unknown | 0.241 | Unknown pathogenic | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 0.625 | MTRR-I49M | het unknown | 0.313 | Recessive pathogenic | Low clinical importance, likely | 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. |
| 0.625 | MTRR-S202L | het unknown | 0.285 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | ZFP57-R313G | het unknown | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview | |
| 0.5 | HOXA1-R73H | homozygous | 0.743 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests |
| 0.5 | GPX6-Y72N | het unknown | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown | |
| 0.5 | GPX6-F13L | homozygous | 0.544 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 0.5 | PEX6-P939Q | het unknown | 0.339 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | PEX6-A809V | het unknown | 0.055 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | PKHD1-Q4048R | het unknown | 0.566 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | PKHD1-Q3899R | het unknown | 0.546 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | PKHD1-L1870V | homozygous | 0.905 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | PKHD1-N830S | het unknown | 0.099 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | DNAH11-E34L | het unknown | 0.335 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | DNAH11-V1023A | homozygous | 0.193 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | DNAH11-T1038A | homozygous | 0.747 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | DNAH11-N2641S | homozygous | 0.367 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | DNAH11-A3474T | het unknown | 0.501 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | DNAH11-V3715L | het unknown | 0.452 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | DNAH11-S3765P | het unknown | 0.152 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | DNAH11-M4172V | homozygous | 0.334 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | DNAH11-T4177I | homozygous | 0.359 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | SLC22A2-S270A | homozygous | 0.876 | Unknown pharmacogenetic | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 0.5 | PMS2-K541E | homozygous | 0.904 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | PMS2-T511A | het unknown | 0.016 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: 0.001 (benign), Testable gene in GeneTests with associated GeneReview |
| 0.5 | AIM1-C491R | het unknown | 0.181 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: 0.091 (benign) |
| 0.5 | AIM1-E1196A | homozygous | 0.935 | Unknown pharmacogenetic | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: 0.015 (benign) |
| 0.5 | AIM1-C1395Y | het unknown | 0.243 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: 0.958 (probably damaging) |
| 0.5 | ROS1-S2229C | homozygous | 0.005 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: Unknown |
| 0.5 | ROS1-K2228Q | homozygous | 0.140 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 0.5 | ROS1-D2213N | homozygous | 0.135 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: 0.003 (benign) |
| 0.5 | ROS1-S1109L | het unknown | 0.040 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.284 (possibly damaging) |
| 0.5 | ROS1-T145P | het unknown | 0.157 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: 0.993 (probably damaging) |
| 0.5 | TNXB-G2518E | homozygous | 0.658 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | TNXB-H1161R | het unknown | 0.568 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | KIAA1009-S342C | het unknown | 0.008 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.97 (probably damaging) |
| 0.5 | KIAA1009-I146T | het unknown | Unknown | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: Unknown | |
| 0.5 | MCHR2-R152Q | het unknown | 0.008 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.884 (probably damaging) |
| 0.5 | FBXL4-H35Q | het unknown | 0.031 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.293 (possibly damaging) |
| 0.5 | HLA-DQA1-L8M | homozygous | 0.457 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | HLA-DQA1-Q152H | homozygous | 0.526 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | HLA-DQA1-Q198E | homozygous | 0.362 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | HSPA1L-E602K | het unknown | 0.225 | Unknown pharmacogenetic | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: 0.001 (benign) |
| 0.5 | HSPA1L-T493M | homozygous | 0.868 | Unknown pharmacogenetic | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: 0.001 (benign) |
| 0.5 | PARK2-S167N | homozygous | 0.143 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | EYS-L1748F | het unknown | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests | |
| 0.5 | EYS-L1419S | homozygous | 0.780 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: Unknown, Testable gene in GeneTests |
| 0.5 | EYS-L852P | het unknown | 0.655 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: Unknown, Testable gene in GeneTests |
| 0.5 | EYS-E641V | het unknown | 0.112 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: Unknown, Testable gene in GeneTests |
| 0.5 | COL9A1-S339P | het unknown | 0.507 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | COL9A1-G302S | het unknown | 0.008 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | PRPH2-D338G | homozygous | 0.761 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests |
| 0.5 | PRPH2-R310K | homozygous | 0.943 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests |
| 0.5 | PRPH2-Q304E | homozygous | 0.877 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests |
| 0.5 | HLA-DQB1-V235I | homozygous | 0.544 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | HLA-DQB1-T217I | homozygous | 0.256 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | HLA-DQB1-S214N | homozygous | 0.333 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | HLA-DQB1-A172T | homozygous | 0.342 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | HLA-DQB1-G157A | homozygous | 0.539 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | HLA-DQB1-F41Y | homozygous | 0.789 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | HLA-DQB1-S27T | homozygous | 0.206 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | HLA-DQB1-D12G | homozygous | 0.395 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | BCLAF1-T888N | het unknown | 0.270 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: 0.31 (possibly damaging) |
| 0.5 | BCLAF1-S209C | het unknown | 0.004 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.96 (probably damaging) |
| 0.5 | BCLAF1-G66A | het unknown | 0.500 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 0.5 | BCLAF1-S36Shift | het unknown | Unknown | Insufficiently evaluated | Prioritization score: 2 Frameshift | |
| 0.5 | PSORS1C1-E34K | het unknown | 0.022 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown |
| 0.5 | FGL1-I72V | het unknown | 0.400 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: 0.003 (benign) |
| 0.5 | FGL1-R38L | het unknown | 0.047 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.876 (probably damaging) |
| 0.5 | FGL1-T15I | homozygous | 0.696 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 0.5 | FGL1-F5I | het unknown | 0.047 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: 0.01 (benign) |
| 0.5 | GARS-P42A | homozygous | 0.654 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | ABCA1-K1587R | homozygous | 0.486 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests |
| 0.5 | ABCA1-I883M | het unknown | 0.427 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests |
| 0.5 | ABCA1-V825I | het unknown | 0.160 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests |
| 0.5 | DFNB31-N796K | het unknown | 0.197 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | DFNB31-V783A | het unknown | 0.405 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | DFNB31-H752Q | homozygous | 0.983 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | DFNB31-M613T | het unknown | 0.487 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | DFNB31-A440T | het unknown | 0.197 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | DFNB31-R364H | homozygous | 0.968 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | SETX-I2587V | het unknown | 0.591 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | SETX-I1386V | homozygous | 0.494 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | SETX-G1252R | homozygous | 0.494 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | SETX-D1192E | homozygous | 0.598 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | TTF1-R401Q | het unknown | 0.033 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.074 (benign), Testable gene in GeneTests |
| 0.5 | FBP2-A163T | het unknown | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.961 (probably damaging) | |
| 0.5 | FBP2-V86L | homozygous | 0.879 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 0.5 | S1PR3-R243Q | het unknown | 0.035 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 1.0 (probably damaging) |
| 0.5 | DOCK8-D63N | het unknown | 0.079 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.99 (probably damaging), Testable gene in GeneTests |
| 0.5 | DOCK8-E237K | het unknown | Unknown | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests | |
| 0.5 | DOCK8-N413S | het unknown | 0.193 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: 0.19 (benign), Testable gene in GeneTests |
| 0.5 | IFNA16-D95H | het unknown | 0.055 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: 0.726 (possibly damaging) |
| 0.5 | IFNA16-V65E | het unknown | 0.048 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown |
| 0.5 | IFNA16-I47V | het unknown | 0.039 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: 0.001 (benign) |
| 0.5 | IFNA17-H57Shift | het unknown | 0.023 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Frameshift |
| 0.5 | TAF1L-M371V | het unknown | 0.038 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.991 (probably damaging) |
| 0.5 | IFNA1-V10A | het unknown | 0.041 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown |
| 0.5 | ECHDC3-R20C | het unknown | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.961 (probably damaging) | |
| 0.5 | ECHDC3-A69T | homozygous | 0.836 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 0.5 | ECHDC3-A151T | homozygous | 0.873 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 0.5 | OPTN-K322E | homozygous | 0.986 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests |
| 0.5 | PCDH15-D440A | homozygous | 0.343 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | PCDH15-S19A | het unknown | 0.174 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: 0.013 (benign), Testable gene in GeneTests with associated GeneReview |
| 0.5 | CDH23-G488A | het unknown | 0.180 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | CDH23-N1349D | het unknown | 0.772 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | CDH23-A1572T | het unknown | 0.720 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | CDH23-R1801Q | het unknown | 0.172 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | CDH23-D1803E | het unknown | 0.035 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | CDH23-E2041K | het unknown | 0.344 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | CDH23-R2355Q | het unknown | 0.349 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | CDH23-P2377L | het unknown | 0.338 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | DYDC2-P123R | het unknown | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.999 (probably damaging) | |
| 0.5 | CYP2C8-K399R | het unknown | 0.061 | Unknown pharmacogenetic | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: 0.001 (benign) |
| 0.5 | CYP2C8-R139K | het unknown | 0.078 | Unknown pharmacogenetic | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: 0.015 (benign) |
| 0.5 | CDHR1-H53Q | het unknown | 0.027 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.864 (probably damaging) |
| 0.5 | GABRD-R220H | het unknown | 0.008 | Unknown benign | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.003 (benign), Testable gene in GeneTests |
| 0.5 | CHAT-A120T | het unknown | 0.149 | 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 | 0.927 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | CHAT-A626E | het unknown | Unknown | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview | |
| 0.5 | CHAT-L627P | het unknown | Unknown | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview | |
| 0.5 | CUBN-N3552K | het unknown | 0.092 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: Unknown, Testable gene in GeneTests |
| 0.5 | CUBN-S2717W | homozygous | 0.998 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests |
| 0.5 | CUBN-C2162Y | homozygous | 1.000 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: Unknown, Testable gene in GeneTests |
| 0.5 | CUBN-S1935G | het unknown | 0.127 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: Unknown, Testable gene in GeneTests |
| 0.5 | CUBN-P1559S | homozygous | 0.565 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: Unknown, Testable gene in GeneTests |
| 0.5 | CUBN-P389T | homozygous | 0.513 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests |
| 0.5 | CUBN-F253S | homozygous | 0.801 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: Unknown, Testable gene in GeneTests |
| 0.5 | PTF1A-S263P | homozygous | 0.654 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.981 (probably damaging), Testable gene in GeneTests |
| 0.5 | PTCHD3-*768Q | homozygous | 0.570 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 0.5 | PTCHD3-I584M | homozygous | 0.963 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 0.5 | PTCHD3-M521T | homozygous | 0.498 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 0.5 | PTCHD3-D473G | homozygous | 0.499 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: 0.849 (possibly damaging) |
| 0.5 | PTCHD3-C407G | het unknown | 0.490 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: 1.0 (probably damaging) |
| 0.5 | PTCHD3-S309Shift | het unknown | 0.016 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Frameshift |
| 0.5 | ERCC6-Q1413R | het unknown | 0.145 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: 0.004 (benign), Testable gene in GeneTests with associated GeneReview |
| 0.5 | ERCC6-R1213G | het unknown | 0.159 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 4 Polyphen 2: 0.957 (probably damaging), Testable gene in GeneTests with associated GeneReview |
| 0.5 | ERCC6-M1097V | het unknown | 0.153 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | PPYR1-A99S | het unknown | 0.244 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: 0.03 (benign) |
| 0.5 | PPYR1-V276M | het unknown | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.889 (probably damaging) | |
| 0.5 | RECQL4-R1005Q | het unknown | 0.258 | 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 | 0.471 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | RECQL4-S92P | homozygous | 1.000 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | BOP1-D78Shift | het unknown | Unknown | Insufficiently evaluated | Prioritization score: 2 Frameshift | |
| 0.5 | BOP1-D78Shift | het unknown | Unknown | Insufficiently evaluated | Prioritization score: 2 Frameshift | |
| 0.5 | CYP3A7-R409T | homozygous | 0.669 | Unknown pharmacogenetic | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 0.5 | AP4M1-R271H | het unknown | 0.039 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown |
| 0.5 | PRSS1-C206S | het unknown | Unknown | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests | |
| 0.5 | PRSS1-Q209E | het unknown | Unknown | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests | |
| 0.5 | CLCN1-G118W | homozygous | 0.995 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | CLCN1-P727L | het unknown | 0.325 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | COL1A2-P549A | homozygous | 0.907 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | POR-A503V | het unknown | 0.227 | Unknown pharmacogenetic | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | TXNDC3-C208R | homozygous | 0.740 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | PKD1L1-R2458Q | het unknown | 0.125 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: 0.979 (probably damaging) |
| 0.5 | PKD1L1-E2410K | het unknown | 0.127 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: 0.156 (benign) |
| 0.5 | PKD1L1-R1922W | homozygous | 0.159 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: 0.001 (benign) |
| 0.5 | PKD1L1-K1272E | homozygous | 0.920 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: 0.001 (benign) |
| 0.5 | PKD1L1-R1053P | het unknown | 0.624 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: 0.001 (benign) |
| 0.5 | PKD1L1-T1002P | het unknown | 0.031 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: Unknown |
| 0.5 | PKD1L1-T985I | het unknown | 0.008 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: 0.031 (benign) |
| 0.5 | PKD1L1-P925L | het unknown | 0.039 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.94 (probably damaging) |
| 0.5 | PKD1L1-T879A | het unknown | 0.065 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: 0.004 (benign) |
| 0.5 | PKD1L1-L403P | het unknown | 0.008 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: 0.011 (benign) |
| 0.5 | PKD1L1-V312F | het unknown | 0.481 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: 0.991 (probably damaging) |
| 0.5 | DDC-M17V | homozygous | 0.979 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests |
| 0.5 | MLXIPL-A358V | het unknown | 0.134 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: 0.345 (possibly damaging) |
| 0.5 | MLXIPL-Q241H | het unknown | 0.090 | Unknown pharmacogenetic | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: 0.697 (possibly damaging) |
| 0.5 | MLXIPL-D67A | het unknown | Unknown | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: Unknown | |
| 0.5 | EGFR-R521K | het unknown | 0.259 | Unknown pharmacogenetic | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests |
| 0.5 | ZNF282-R670Q | het unknown | 0.009 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown |
| 0.5 | MCPH1-R171S | homozygous | 0.865 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | MCPH1-R304I | het unknown | 0.075 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: 0.999 (probably damaging), Testable gene in GeneTests with associated GeneReview |
| 0.5 | MCPH1-D314H | het unknown | 0.648 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: 0.136 (benign), Testable gene in GeneTests with associated GeneReview |
| 0.5 | MCPH1-D392G | homozygous | 0.979 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | MCPH1-T682N | het unknown | 0.148 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: 0.993 (probably damaging), Testable gene in GeneTests with associated GeneReview |
| 0.5 | MCPH1-A761V | het unknown | 0.504 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | MCPH1-P828S | het unknown | 0.241 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | RP1-N985Y | homozygous | 0.206 | Unknown benign | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: 0.958 (probably damaging), Testable gene in GeneTests |
| 0.5 | RP1-C2033Y | homozygous | 0.186 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: 0.957 (probably damaging), Testable gene in GeneTests |
| 0.5 | HPS6-L233R | het unknown | 0.008 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: 0.509 (possibly damaging), Testable gene in GeneTests with associated GeneReview |
| 0.5 | PEX2-C184R | homozygous | 0.990 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | 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 | NBN-E185Q | homozygous | 0.338 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | SFTPC-T138N | homozygous | 0.172 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | SFTPC-S186N | homozygous | 0.222 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | HR-Q528R | het unknown | 0.062 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: 0.293 (possibly damaging) |
| 0.5 | HR-L526P | het unknown | 0.219 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: Unknown |
| 0.5 | HR-C397Y | het unknown | 0.042 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: 0.928 (probably damaging) |
| 0.5 | GATA4-S377G | het unknown | 0.058 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests |
| 0.5 | HPS1-Q604R | het unknown | Unknown | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview | |
| 0.5 | HPS1-P491R | het unknown | 0.156 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 4 Polyphen 2: 0.983 (probably damaging), Testable gene in GeneTests with associated GeneReview |
| 0.5 | ASAH1-V246A | homozygous | 0.797 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: Unknown, Testable gene in GeneTests |
| 0.5 | ASAH1-D124E | het unknown | 0.019 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests |
| 0.5 | ASAH1-I93V | homozygous | 0.384 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests |
| 0.5 | ASAH1-V72M | homozygous | 0.386 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests |
| 0.5 | ALDH5A1-H180Y | homozygous | 0.334 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | LPL-D36N | het unknown | 0.031 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: 0.489 (possibly damaging), Testable gene in GeneTests with associated GeneReview |
| 0.5 | BBS12-R386Q | het unknown | 0.515 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: 0.009 (benign), Testable gene in GeneTests with associated GeneReview |
| 0.5 | BBS12-D467N | het unknown | 0.094 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | FLT4-R1324L | het unknown | 0.047 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | FLT4-H890Q | het unknown | 0.355 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.714 (possibly damaging), Testable gene in GeneTests with associated GeneReview |
| 0.5 | FLT4-T494A | het unknown | 0.043 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: 0.008 (benign), Testable gene in GeneTests with associated GeneReview |
| 0.5 | DNAH6-V141M | homozygous | 0.942 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 0.5 | DNAH6-G1694A | het unknown | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: 0.026 (benign) | |
| 0.5 | DNAH6-Y2119C | het unknown | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.992 (probably damaging) | |
| 0.5 | DNAH6-K2859R | het unknown | 0.044 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: 0.004 (benign) |
| 0.5 | TEKT4-N409K | het unknown | 0.009 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: 0.994 (probably damaging) |
| 0.5 | MERTK-S118N | homozygous | 0.138 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests |
| 0.5 | MERTK-R466K | homozygous | 0.550 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests |
| 0.5 | MERTK-I518V | homozygous | 0.550 | 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 | GLI2-C444H | het unknown | Unknown | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview | |
| 0.5 | GLI2-A1156S | homozygous | 0.536 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | GLI2-D1306N | homozygous | 0.595 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | ALMS1-S524SP | homozygous | 0.578 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | ALMS1-H623R | het unknown | 0.008 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | ALMS1-V671G | homozygous | 0.857 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | ALMS1-R1808G | het unknown | Unknown | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview | |
| 0.5 | ALMS1-R4029K | homozygous | 0.527 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | NR_003131-Q17Shift | het unknown | 0.024 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Frameshift |
| 0.5 | ALK-D1529E | homozygous | 0.606 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | ALK-K1491R | homozygous | 0.405 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: 0.009 (benign), Testable gene in GeneTests with associated GeneReview |
| 0.5 | ALK-I1461V | homozygous | 0.982 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | SULT6B1-R143S | het unknown | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: Unknown | |
| 0.5 | SULT6B1-L112F | het unknown | 0.481 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 0.5 | SULT6B1-K50E | het unknown | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: Unknown | |
| 0.5 | SULT6B1-V37D | het unknown | 0.005 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown |
| 0.5 | SULT6B1-A23T | het unknown | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: Unknown | |
| 0.5 | CYP1B1-V432L | het unknown | 0.547 | Unknown pharmacogenetic | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | CYP1B1-A119S | het unknown | 0.080 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | CYP1B1-R48G | het unknown | 0.360 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | SLC3A1-M618I | homozygous | 0.406 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.003 (benign), Testable gene in GeneTests |
| 0.5 | ABCG8-Y54C | homozygous | 0.431 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.01 (benign), Testable gene in GeneTests |
| 0.5 | ABCG8-V632A | het unknown | 0.908 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests |
| 0.5 | LCT-N1639S | homozygous | 0.383 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests |
| 0.5 | LCT-I362V | homozygous | 0.944 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests |
| 0.5 | NEB-S2912P | het unknown | 0.526 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | NEB-V1491M | het unknown | 0.453 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | NEB-Y1301H | homozygous | 0.668 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | NEB-K1027N | het unknown | 0.476 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | IGFBP5-R138W | het unknown | 0.022 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.937 (probably damaging) |
| 0.5 | OBSL1-R1767Q | het unknown | 0.491 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | OBSL1-Q1578R | homozygous | 0.968 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | OBSL1-E1365D | het unknown | 0.723 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | OBSL1-R723K | homozygous | 0.770 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | COL4A4-S1400P | homozygous | 0.504 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | COL4A4-V1327M | homozygous | 0.464 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | COL4A4-P1004L | homozygous | 0.528 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | COL4A4-P482S | het unknown | 0.493 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | COL6A3-T3069I | homozygous | 0.364 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | COL6A3-A3012P | homozygous | 0.843 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | COL6A3-M2927T | homozygous | 0.674 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | COL4A3-G43R | het unknown | 0.239 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | COL4A3-L141P | het unknown | 0.760 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | COL4A3-E162G | het unknown | 0.764 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | COL4A3-P574L | homozygous | 0.358 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | ATIC-T116S | homozygous | 0.184 | Unknown pharmacogenetic | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: 0.001 (benign) |
| 0.5 | ABCA12-S777T | homozygous | 1.000 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | LRP2-I4210L | homozygous | 0.462 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.993 (probably damaging) |
| 0.5 | LRP2-K4094E | homozygous | 0.744 | Unknown pharmacogenetic | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: Unknown |
| 0.5 | LRP2-V3999G | het unknown | 0.016 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: Unknown |
| 0.5 | LRP2-A2872T | het unknown | 0.327 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: Unknown |
| 0.5 | LRP2-N83S | het unknown | 0.306 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: 0.001 (benign) |
| 0.5 | COL3A1-A698T | het unknown | 0.181 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | COL3A1-H1353Q | homozygous | 0.990 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | ALS2-V368M | homozygous | 0.869 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | CPS1-T344A | homozygous | 0.583 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: 0.302 (possibly damaging), Testable gene in GeneTests with associated GeneReview |
| 0.5 | CPS1-T1406N | het unknown | 0.263 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | WDR12-I75V | het unknown | 0.046 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown |
| 0.5 | GCKR-L446P | homozygous | 0.673 | Unknown pharmacogenetic | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 0.5 | TPO-A257S | homozygous | 0.387 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests |
| 0.5 | TPO-T725P | homozygous | 0.524 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests |
| 0.5 | TPO-V847A | homozygous | 0.674 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.001 (benign), Testable gene in GeneTests |
| 0.5 | IFI44L-I235T | het unknown | 0.190 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 0.5 | IFI44L-M390I | het unknown | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.446 (possibly damaging) | |
| 0.5 | GFI1-S36N | het unknown | 0.016 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown |
| 0.5 | DBT-S384G | homozygous | 0.869 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | 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 | 0.752 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | COL11A1-P1335L | homozygous | 0.479 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | ALG6-Y131H | het unknown | 0.023 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.01 (benign), Testable gene in GeneTests with associated GeneReview |
| 0.5 | ALG6-S306F | het unknown | Unknown | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview | |
| 0.5 | STIL-H985R | homozygous | 0.172 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.648 (possibly damaging), Testable gene in GeneTests with associated GeneReview |
| 0.5 | STIL-A86V | homozygous | 0.633 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | CLCNKB-R27L | homozygous | 0.994 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: Unknown, Testable gene in GeneTests |
| 0.5 | CLCNKB-A214G | homozygous | 0.815 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: Unknown, Testable gene in GeneTests |
| 0.5 | CLCNKB-A287V | homozygous | 0.820 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: Unknown, Testable gene in GeneTests |
| 0.5 | CLCNKB-M562T | homozygous | 0.856 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests |
| 0.5 | CLCNKB-K578E | het unknown | 0.748 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: Unknown, Testable gene in GeneTests |
| 0.5 | SPATA21-K361KK | het unknown | Unknown | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: Unknown | |
| 0.5 | SPATA21-V255L | het unknown | 0.238 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 0.5 | SPATA21-P119L | het unknown | 0.031 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.996 (probably damaging) |
| 0.5 | CROCC-R7G | homozygous | 1.000 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 0.5 | CROCC-Q302E | het unknown | 0.039 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.956 (probably damaging) |
| 0.5 | CROCC-D463Y | het unknown | 0.045 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.987 (probably damaging) |
| 0.5 | CROCC-R691H | het unknown | 0.032 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.873 (probably damaging) |
| 0.5 | CROCC-T824M | het unknown | 0.041 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: 0.351 (possibly damaging) |
| 0.5 | CROCC-R903S | het unknown | 0.045 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.999 (probably damaging) |
| 0.5 | POMGNT1-M623V | homozygous | 0.878 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests |
| 0.5 | DNALI1-P67Shift | het unknown | Unknown | Insufficiently evaluated | Prioritization score: 2 Frameshift | |
| 0.5 | DNALI1-Q68Shift | het unknown | Unknown | Insufficiently evaluated | Prioritization score: 2 Frameshift | |
| 0.5 | DNALI1-Q68H | het unknown | Unknown | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: Unknown | |
| 0.5 | DNALI1-Q259R | het unknown | Unknown | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: Unknown | |
| 0.5 | NGF-A35V | homozygous | 0.244 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.123 (benign), Testable gene in GeneTests |
| 0.5 | VANGL1-A116T | het unknown | 0.097 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.002 (benign), Testable gene in GeneTests |
| 0.5 | ASPM-L2647I | het unknown | 0.198 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | ASPM-S2562G | het unknown | 0.212 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | ASPM-Y2494H | homozygous | 0.992 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | CACNA1S-R1658H | het unknown | 0.111 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | CACNA1S-L458H | het unknown | Unknown benign | Insufficiently evaluated | Prioritization score: 4 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview | |
| 0.5 | USH2A-I2169T | het unknown | 0.575 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | USH2A-I2106T | het unknown | 0.629 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | USH2A-R1486K | homozygous | 0.646 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: 0.063 (benign), Testable gene in GeneTests with associated GeneReview |
| 0.5 | USH2A-D644V | het unknown | 0.031 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.137 (benign), Testable gene in GeneTests with associated GeneReview |
| 0.5 | USH2A-A125T | homozygous | 0.777 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | MTR-R52Q | het unknown | 0.002 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: 0.136 (benign), Testable gene in GeneTests with associated GeneReview |
| 0.5 | MTR-D919G | het unknown | 0.262 | Complex/Other protective | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: 0.777 (possibly damaging), Testable gene in GeneTests with associated GeneReview |
| 0.5 | SIPA1L2-R1708Q | het unknown | 0.008 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.976 (probably damaging) |
| 0.5 | CFH-V62I | het unknown | 0.495 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | CFH-H402Y | homozygous | 0.818 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | NCF2-K181R | homozygous | 0.471 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests |
| 0.5 | SEC22B-D70Y | het unknown | 0.003 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: Unknown |
| 0.5 | SEC22B-T81K | het unknown | 0.500 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 0.5 | SEC22B-R107Q | het unknown | 0.002 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: Unknown |
| 0.5 | SEC22B-C129R | het unknown | 0.085 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 0.5 | SEC22B-R131* | het unknown | 0.019 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Nonsense mutation |
| 0.5 | SEC22B-H189R | het unknown | 0.508 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 0.5 | RHBG-G76D | het unknown | 0.236 | 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 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: Unknown | |
| 0.5 | KCNJ9-A366V | het unknown | 0.018 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown |
| 0.5 | LAMC2-S733T | het unknown | 0.192 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 4 Polyphen 2: 0.935 (probably damaging), Testable gene in GeneTests with associated GeneReview |
| 0.5 | USP21-P91S | het unknown | 0.027 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: 0.979 (probably damaging) |
| 0.5 | USP21-G321D | het unknown | 0.031 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.981 (probably damaging) |
| 0.5 | SUMF1-S63N | het unknown | 0.088 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.697 (possibly damaging), Testable gene in GeneTests |
| 0.5 | FANCD2-P714L | homozygous | 0.246 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | DNAH5-I4450V | het unknown | 0.481 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | DNAH5-A4134V | het unknown | 0.450 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | DNAH5-L2862F | het unknown | 0.212 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.006 (benign), Testable gene in GeneTests with associated GeneReview |
| 0.5 | DNAH5-I766L | homozygous | 0.404 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.026 (benign), Testable gene in GeneTests with associated GeneReview |
| 0.5 | DNAH5-H12Q | homozygous | 0.896 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | FAM105A-F319L | het unknown | 0.028 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.916 (probably damaging) |
| 0.5 | AMACR-E277K | homozygous | 0.724 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests |
| 0.5 | AMACR-L201S | homozygous | 0.738 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests |
| 0.5 | AMACR-G175D | homozygous | 0.257 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests |
| 0.5 | AMACR-V9M | homozygous | 0.368 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests |
| 0.5 | MRPS30-C33S | het unknown | 0.390 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 0.5 | MRPS30-A102V | het unknown | 0.008 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.903 (probably damaging) |
| 0.5 | HEATR7B2-D1529G | het unknown | 0.016 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.991 (probably damaging) |
| 0.5 | HEATR7B2-L1179P | homozygous | 0.779 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 0.5 | HEATR7B2-F890L | het unknown | 0.040 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.995 (probably damaging) |
| 0.5 | HEATR7B2-R526H | het unknown | 0.199 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: 0.947 (probably damaging) |
| 0.5 | HEATR7B2-V496I | homozygous | 0.780 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 0.5 | HEATR7B2-E468V | het unknown | 0.033 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: 0.025 (benign) |
| 0.5 | HEATR7B2-W191R | homozygous | 0.786 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 0.5 | HEATR7B2-M11V | het unknown | 0.216 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: 0.129 (benign) |
| 0.5 | PLEKHG4B-V37A | het unknown | 0.026 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: 0.011 (benign) |
| 0.5 | PLEKHG4B-A72T | het unknown | 0.031 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: 0.011 (benign) |
| 0.5 | PLEKHG4B-G149S | het unknown | 0.152 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 0.5 | PLEKHG4B-R220H | het unknown | 0.151 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: 0.166 (benign) |
| 0.5 | PLEKHG4B-A660V | het unknown | 0.033 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.275 (possibly damaging) |
| 0.5 | PLEKHG4B-T669P | homozygous | 0.906 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: 0.257 (possibly damaging) |
| 0.5 | PLEKHG4B-R671G | het unknown | 0.441 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: 0.006 (benign) |
| 0.5 | PLEKHG4B-R1076Q | het unknown | 0.262 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: 0.999 (probably damaging) |
| 0.5 | PLEKHG4B-R1146G | het unknown | 0.300 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: 0.999 (probably damaging) |
| 0.5 | AGA-T149S | homozygous | 0.925 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests |
| 0.5 | MANBA-T701M | homozygous | 0.554 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests |
| 0.5 | CFI-T300A | homozygous | 0.957 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | PPRC1-D1513E | het unknown | 0.016 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: 0.754 (possibly damaging) |
| 0.5 | PPRC1-R1514S | het unknown | 0.016 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.956 (probably damaging) |
| 0.5 | TDO2-N229H | het unknown | 0.025 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.851 (probably damaging) |
| 0.5 | NR3C2-V180I | homozygous | 0.883 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests |
| 0.5 | HEXB-L62S | homozygous | 0.978 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests |
| 0.5 | AP3B1-V585E | homozygous | 0.806 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: 0.002 (benign), Testable gene in GeneTests with associated GeneReview |
| 0.5 | F12-A207P | homozygous | 0.951 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests |
| 0.5 | PROP1-A142T | het unknown | 0.206 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 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 | COL23A1-T287A | het unknown | 0.525 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: 0.009 (benign) |
| 0.5 | COL23A1-R267W | het unknown | 0.047 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.998 (probably damaging) |
| 0.5 | BC040901-C89W | het unknown | 0.706 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 0.5 | BC040901-P93S | het unknown | 0.548 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 0.5 | BC040901-A106Shift | het unknown | 0.016 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Frameshift |
| 0.5 | GRM6-A807V | het unknown | 0.030 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: 0.418 (possibly damaging), Testable gene in GeneTests |
| 0.5 | GRM6-Q59P | het unknown | 0.211 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests |
| 0.5 | MSX2-M129T | homozygous | 0.716 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | SLC26A2-I574T | homozygous | 0.994 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | GPR98-L1093F | homozygous | 0.835 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | GPR98-V1951I | homozygous | 0.820 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | GPR98-N1985D | het unknown | 0.259 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.005 (benign), Testable gene in GeneTests with associated GeneReview |
| 0.5 | GPR98-L2004F | het unknown | 0.341 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.841 (possibly damaging), Testable gene in GeneTests with associated GeneReview |
| 0.5 | GPR98-N2584S | homozygous | 0.825 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | GPR98-S2764L | het unknown | 0.081 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: 0.002 (benign), Testable gene in GeneTests with associated GeneReview |
| 0.5 | GPR98-V3094I | het unknown | 0.039 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | GPR98-G3248D | het unknown | 0.232 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: 0.961 (probably damaging), Testable gene in GeneTests with associated GeneReview |
| 0.5 | GPR98-E3471K | homozygous | 0.834 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | GPR98-M3526T | het unknown | 0.017 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | GPR98-S3646P | het unknown | 0.008 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | GPR98-E3867K | het unknown | 0.356 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | GPR98-E5344G | homozygous | 0.903 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.003 (benign), Testable gene in GeneTests with associated GeneReview |
| 0.5 | GPR98-V5427M | homozygous | 0.918 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | GPR98-V5876I | homozygous | 0.424 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: 0.94 (probably damaging), Testable gene in GeneTests with associated GeneReview |
| 0.5 | PCSK1-S690T | het unknown | 0.218 | Unknown pharmacogenetic | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.061 (benign), Testable gene in GeneTests |
| 0.5 | PCSK1-Q665E | het unknown | 0.238 | Unknown pharmacogenetic | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests |
| 0.5 | ERAP2-K392N | homozygous | 0.540 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 0.5 | ERAP2-N501Shift | het unknown | 0.024 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Frameshift |
| 0.5 | ADRB2-E27Q | het unknown | 0.773 | Unknown pharmacogenetic | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.001 (benign), Testable gene in GeneTests |
| 0.5 | NR_027706-G65R | het unknown | Unknown | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: Unknown | |
| 0.5 | NR_027706-G126Shift | het unknown | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Frameshift | |
| 0.5 | ADH1B-H48R | homozygous | 0.678 | Unknown pharmacogenetic | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 0.5 | GPRIN3-P390S | het unknown | 0.027 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.95 (probably damaging) |
| 0.5 | GPRIN3-L39V | het unknown | 0.015 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: Unknown |
| 0.5 | GBE1-I334V | homozygous | 0.979 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | RETNLB-P20L | het unknown | 0.154 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: 0.987 (probably damaging) |
| 0.5 | RETNLB-L14Shift | het unknown | 0.047 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Frameshift |
| 0.5 | KIAA1407-R374W | het unknown | 0.026 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.999 (probably damaging) |
| 0.5 | CASR-E1011Q | homozygous | 0.916 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests |
| 0.5 | DRD3-G9S | homozygous | 0.482 | Unknown pharmacogenetic | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: Unknown |
| 0.5 | ITIH3-T340M | het unknown | 0.022 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.994 (probably damaging) |
| 0.5 | IQCF2-R4Q | het unknown | 0.023 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: 0.966 (probably damaging) |
| 0.5 | TSEN2-R41H | het unknown | 0.099 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.079 (benign), Testable gene in GeneTests with associated GeneReview |
| 0.5 | GOLGA4-N599I | het unknown | 0.016 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.972 (probably damaging) |
| 0.5 | SCN5A-H558R | het unknown | 0.215 | Unknown pharmacogenetic | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | QARS-N285S | het unknown | 0.016 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.999 (probably damaging) |
| 0.5 | TTC21A-R1056L | het unknown | 0.023 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown |
| 0.5 | TTC21A-R1317K | homozygous | 0.474 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 0.5 | MYLK-L496V | homozygous | 1.000 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 0.5 | MYLK-P443S | het unknown | 0.008 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.999 (probably damaging) |
| 0.5 | MYLK-P147S | homozygous | 0.818 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 0.5 | MYLK-P21H | het unknown | 0.202 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: 0.003 (benign) |
| 0.5 | UMPS-I446V | het unknown | 0.028 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests |
| 0.5 | EVC-T449K | homozygous | 0.871 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests |
| 0.5 | EVC-R576Q | het unknown | 0.274 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: 0.998 (probably damaging), Testable gene in GeneTests |
| 0.5 | EPHA5-N81T | het unknown | 0.039 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.978 (probably damaging) |
| 0.5 | EPHA5-A49S | het unknown | Unknown | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: Unknown | |
| 0.5 | CENPC1-G389D | het unknown | 0.039 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown |
| 0.5 | CENPC1-L341F | homozygous | 0.716 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 0.5 | AMBN-L354P | het unknown | 0.023 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: 0.984 (probably damaging) |
| 0.5 | UGT2B15-K523T | homozygous | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: Unknown | |
| 0.5 | UGT2B15-Y85D | homozygous | 0.500 | Unknown pharmacogenetic | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 0.5 | EVC2-T699A | homozygous | 0.584 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: 0.009 (benign), Testable gene in GeneTests |
| 0.5 | EVC2-A492Shift | het unknown | Unknown | Insufficiently evaluated | Prioritization score: 3 Frameshift, Testable gene in GeneTests | |
| 0.5 | EVC2-P41H | het unknown | Unknown | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests | |
| 0.5 | DOK7-R38G | het unknown | 0.208 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 4 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | DOK7-R38G | het unknown | 0.208 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 4 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | MCCC1-H464P | homozygous | 0.408 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests |
| 0.5 | PLD1-A622S | homozygous | 0.151 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests |
| 0.5 | VWA5B2-G90S | het unknown | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown | |
| 0.5 | VWA5B2-P200S | het unknown | 0.205 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 0.5 | VWA5B2-T681Shift | het unknown | Unknown | Insufficiently evaluated | Prioritization score: 2 Frameshift | |
| 0.5 | VWA5B2-G682S | het unknown | Unknown | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: Unknown | |
| 0.5 | CLCN2-T668S | homozygous | 0.378 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests |
| 0.5 | IDUA-H33Q | homozygous | 0.750 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: 0.008 (benign), Testable gene in GeneTests with associated GeneReview |
| 0.5 | CPN2-Q509W | het unknown | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests | |
| 0.5 | SLC29A3-S158F | homozygous | 0.453 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: Unknown, Testable gene in GeneTests |
| 0.5 | SLC29A3-V239I | homozygous | 0.771 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests |
| 0.5 | B3GALTL-E370K | homozygous | 0.612 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.088 (benign), Testable gene in GeneTests with associated GeneReview |
| 0.5 | ERCC2-K751Q | het unknown | 0.218 | Unknown pharmacogenetic | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | ERCC2-D312N | het unknown | 0.145 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: 0.032 (benign), Testable gene in GeneTests with associated GeneReview |
| 0.5 | TRPM1-V1395I | het unknown | 0.075 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests |
| 0.5 | TRPM1-S32N | homozygous | 0.786 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: Unknown, Testable gene in GeneTests |
| 0.5 | TRPM1-M1T | homozygous | 0.898 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: Unknown, Testable gene in GeneTests |
| 0.5 | ZNF224-M118V | homozygous | 0.793 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 0.5 | ZNF224-H162L | homozygous | 0.780 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: 0.262 (possibly damaging) |
| 0.5 | ZNF224-K640E | homozygous | 0.593 | Unknown pharmacogenetic | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 0.5 | SIX5-V693M | het unknown | 0.261 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.086 (benign), Testable gene in GeneTests with associated GeneReview |
| 0.5 | SIX5-P635S | het unknown | 0.533 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 4 Polyphen 2: 0.891 (probably damaging), Testable gene in GeneTests with associated GeneReview |
| 0.5 | SIX5-L556V | homozygous | 0.833 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | GALC-T641A | homozygous | 0.892 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | TMEM160-G120S | het unknown | 0.068 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.866 (probably damaging) |
| 0.5 | MLH3-P844L | het unknown | 0.298 | 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 | 0.981 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | ESRRB-P386S | het unknown | 0.058 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.069 (benign), Testable gene in GeneTests |
| 0.5 | TSHR-E727D | homozygous | 0.895 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests |
| 0.5 | RPAP1-Q825E | homozygous | 0.981 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 0.5 | RPAP1-R582G | het unknown | 0.083 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.991 (probably damaging) |
| 0.5 | RPAP1-E506K | het unknown | 0.500 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: 0.906 (probably damaging) |
| 0.5 | PLA2G4D-R807Q | het unknown | 0.048 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.976 (probably damaging) |
| 0.5 | PLA2G4D-R783Q | het unknown | 0.054 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: 0.01 (benign) |
| 0.5 | PLA2G4D-A649G | het unknown | 0.048 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: Unknown |
| 0.5 | PLA2G4D-K639Q | het unknown | 0.048 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: Unknown |
| 0.5 | PLA2G4D-Y627C | het unknown | 0.062 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 0.5 | PLA2G4D-R601H | het unknown | 0.062 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: 0.001 (benign) |
| 0.5 | PLA2G4D-R573W | het unknown | 0.054 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 0.5 | PLA2G4D-P10T | het unknown | 0.080 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: 0.11 (benign) |
| 0.5 | SLC24A1-T37S | het unknown | 0.322 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 0.5 | SLC24A1-S331Shift | het unknown | Unknown | Insufficiently evaluated | Prioritization score: 2 Frameshift | |
| 0.5 | SLC24A1-S332Shift | het unknown | 0.019 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Frameshift |
| 0.5 | PRX-G1132R | homozygous | 0.978 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | PRX-P1083R | het unknown | 0.082 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: 0.793 (possibly damaging), Testable gene in GeneTests with associated GeneReview |
| 0.5 | PRX-I921M | het unknown | 0.261 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | PRX-V882A | homozygous | 0.493 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: 0.014 (benign), Testable gene in GeneTests with associated GeneReview |
| 0.5 | NR2E3-T318Shift | homozygous | 1.000 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Frameshift, Testable gene in GeneTests |
| 0.5 | WDR62-L850S | homozygous | 0.677 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: Unknown, Testable gene in GeneTests |
| 0.5 | WDR62-A1271V | het unknown | 0.008 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests |
| 0.5 | WDR62-Q1310L | homozygous | 0.726 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: Unknown, Testable gene in GeneTests |
| 0.5 | WDR62-L1390F | homozygous | 0.736 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: Unknown, Testable gene in GeneTests |
| 0.5 | CYP2B6-R487C | het unknown | 0.074 | Unknown pharmacogenetic | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: 0.005 (benign) |
| 0.5 | NEDD4-N626S | het unknown | 0.702 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 0.5 | NEDD4-R607Q | het unknown | 0.701 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 0.5 | NEDD4-N407H | het unknown | 0.267 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 0.5 | NEDD4-M33V | het unknown | 0.037 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown |
| 0.5 | 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 | 0.662 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: Unknown, Testable gene in GeneTests |
| 0.5 | DUOX2-P138L | homozygous | 0.926 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests |
| 0.5 | CEACAM5-A46T | het unknown | 0.016 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: 0.988 (probably damaging) |
| 0.5 | CEACAM5-K398E | het unknown | 0.881 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 0.5 | FBN1-E1963G | het unknown | Unknown | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview | |
| 0.5 | FBN1-C472Y | homozygous | 1.000 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | YLPM1-Q118T | het unknown | 0.009 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: Unknown |
| 0.5 | YLPM1-P254L | het unknown | 0.047 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.981 (probably damaging) |
| 0.5 | ZFYVE26-N1891S | homozygous | 0.900 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests |
| 0.5 | ZFYVE26-S1040T | het unknown | 0.047 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: 0.004 (benign), Testable gene in GeneTests |
| 0.5 | COL4A1-T555P | homozygous | 0.994 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | COL4A1-V7L | het unknown | 0.211 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | LENG1-E97K | het unknown | 0.023 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.968 (probably damaging) |
| 0.5 | TEP1-H2562R | het unknown | 0.016 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | TEP1-S1195P | het unknown | 0.703 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | TEP1-R1055C | het unknown | 0.631 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | TEP1-N307K | het unknown | 0.369 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | TEP1-S116P | homozygous | 0.363 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | NLRP7-A481T | het unknown | 0.090 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.001 (benign), Testable gene in GeneTests |
| 0.5 | DEFB126-P106Shift | het unknown | 0.023 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Frameshift |
| 0.5 | BRCA2-N372H | het unknown | 0.230 | Recessive pathogenic | Low clinical importance, uncertain | This is a common variant of BRCA2 (HapMap allele frequency of 23%). The variant is weakly associated with an increased chance of breast cancer, and zygosity of the variant is associated with sex of children: male children are more likely to be homozygous for this variant, female children are more likely to be heterozygous. |
| 0.5 | BRCA2-V2466A | homozygous | 0.954 | Dominant benign | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | FREM2-S745P | homozygous | 0.994 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: Unknown, Testable gene in GeneTests |
| 0.5 | FREM2-F1070S | het unknown | 0.527 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests |
| 0.5 | FREM2-R1840W | het unknown | 0.162 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: 0.999 (probably damaging), Testable gene in GeneTests |
| 0.5 | FREM2-T2326I | homozygous | 0.768 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests |
| 0.5 | TNFSF11-P36R | het unknown | 0.010 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: 0.976 (probably damaging), Testable gene in GeneTests |
| 0.5 | SUCLA2-S199T | homozygous | 0.722 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | ZNF813-S146L | het unknown | 0.227 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: 0.07 (benign) |
| 0.5 | ZNF813-K446Shift | het unknown | 0.016 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Frameshift |
| 0.5 | ITGB4-L1779P | homozygous | 0.486 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | DDHD1-G112GGG | het unknown | Unknown | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: Unknown | |
| 0.5 | DDHD1-G106A | het unknown | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.98 (probably damaging) | |
| 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 | DHDH-S66N | het unknown | 0.545 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 0.5 | DHDH-A173Shift | het unknown | 0.009 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Frameshift |
| 0.5 | DHDH-V247A | het unknown | 0.473 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 0.5 | DHDH-E294Shift | het unknown | 0.031 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Frameshift |
| 0.5 | SYNE2-M1969T | homozygous | 0.637 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.991 (probably damaging), Testable gene in GeneTests |
| 0.5 | SYNE2-A2284V | homozygous | 0.637 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: 0.289 (possibly damaging), Testable gene in GeneTests |
| 0.5 | SYNE2-S2359N | homozygous | 0.676 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: 0.697 (possibly damaging), Testable gene in GeneTests |
| 0.5 | SYNE2-A2395T | homozygous | 0.835 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: Unknown, Testable gene in GeneTests |
| 0.5 | SYNE2-S2802G | homozygous | 0.864 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: 0.012 (benign), Testable gene in GeneTests |
| 0.5 | SYNE2-I2942V | homozygous | 0.622 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: Unknown, Testable gene in GeneTests |
| 0.5 | SYNE2-D3253H | homozygous | 0.684 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.933 (probably damaging), Testable gene in GeneTests |
| 0.5 | SYNE2-H3309R | homozygous | 0.647 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: 0.001 (benign), Testable gene in GeneTests |
| 0.5 | SYNE2-L5186M | het unknown | 0.708 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: Unknown, Testable gene in GeneTests |
| 0.5 | COCH-T352S | homozygous | 0.382 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests |
| 0.5 | PCK2-Q121P | homozygous | 1.000 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests |
| 0.5 | ZNF880-V12M | het unknown | 0.132 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 0.5 | ZNF880-N106Shift | het unknown | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Frameshift | |
| 0.5 | ZNF880-N140NN | het unknown | Unknown | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: Unknown | |
| 0.5 | ZNF880-Y150C | het unknown | 0.173 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 0.5 | ZNF880-R198S | het unknown | 0.354 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 0.5 | ZNF880-N202H | het unknown | 0.292 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 0.5 | ZNF880-Q406R | het unknown | Unknown | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: Unknown | |
| 0.5 | ZNF880-K471R | het unknown | 0.328 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 0.5 | FPR1-E346A | homozygous | 0.800 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 0.5 | FPR1-R190W | het unknown | 0.128 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 0.5 | FPR1-I147T | het unknown | Unknown | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: Unknown | |
| 0.5 | FPR1-V101L | het unknown | 0.336 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 0.5 | FPR1-I11T | homozygous | 0.831 | Unknown pharmacogenetic | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 0.5 | RNASE4-L17Shift | het unknown | Unknown | Insufficiently evaluated | Prioritization score: 2 Frameshift | |
| 0.5 | RNASE4-R35* | het unknown | Unknown | Insufficiently evaluated | Prioritization score: 2 Nonsense mutation | |
| 0.5 | RPGRIP1-K192E | homozygous | 0.446 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | RPGRIP1-A547S | het unknown | 0.164 | Complex/Other benign | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: 0.03 (benign), Testable gene in GeneTests with associated GeneReview |
| 0.5 | RPGRIP1-E1033Q | homozygous | 0.256 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | HEXA-I436V | homozygous | 0.748 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | LRRC25-C285Y | het unknown | 0.008 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.995 (probably damaging) |
| 0.5 | LMAN1-V39A | het unknown | 0.048 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests |
| 0.5 | LMAN1-R14Q | het unknown | 0.031 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: 0.058 (benign), Testable gene in GeneTests |
| 0.5 | RAX-D44E | homozygous | 0.189 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: 0.003 (benign), Testable gene in GeneTests with associated GeneReview |
| 0.5 | MYOCD-S303Shift | het unknown | Unknown | Insufficiently evaluated | Prioritization score: 2 Frameshift | |
| 0.5 | MYOCD-Q304Shift | het unknown | Unknown | Insufficiently evaluated | Prioritization score: 2 Frameshift | |
| 0.5 | CD226-S307G | homozygous | 0.423 | Unknown pharmacogenetic | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 0.5 | CD226-R171H | het unknown | Unknown | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: Unknown | |
| 0.5 | MYH8-W1692R | het unknown | 0.481 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: Unknown, Testable gene in GeneTests |
| 0.5 | MYH8-A636V | het unknown | 0.047 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests |
| 0.5 | CYBA-V174A | het unknown | 0.417 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests |
| 0.5 | CYBA-Y72H | het unknown | 0.649 | Unknown pharmacogenetic | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests |
| 0.5 | FANCA-M717I | het unknown | 0.016 | Unknown benign | Insufficiently evaluated | Prioritization score: 4 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | FANCA-G501S | het unknown | 0.654 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | FANCA-T266A | het unknown | 0.708 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: 0.778 (possibly damaging), Testable gene in GeneTests with associated GeneReview |
| 0.5 | KISS1R-L364H | homozygous | 0.875 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | CTNS-T260I | homozygous | 0.825 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | ATP8B1-A1152T | homozygous | 0.998 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | LOXHD1-R1155G | homozygous | 0.669 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: Unknown, Testable gene in GeneTests |
| 0.5 | LOXHD1-R1090Q | het unknown | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests | |
| 0.5 | LAMA3-R1391Q | het unknown | Unknown | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview | |
| 0.5 | LAMA3-S2834G | homozygous | 0.993 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | LPIN2-E601K | het unknown | 0.023 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.042 (benign), Testable gene in GeneTests with associated GeneReview |
| 0.5 | GAA-H199R | homozygous | 0.574 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | GAA-R223H | homozygous | 0.606 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | GAA-V780I | homozygous | 0.720 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | TSEN54-E4D | homozygous | 0.675 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | TSEN54-K347N | homozygous | 0.430 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: 0.968 (probably damaging), Testable gene in GeneTests with associated GeneReview |
| 0.5 | TSEN54-A437V | homozygous | 0.515 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.001 (benign), Testable gene in GeneTests with associated GeneReview |
| 0.5 | SEPT4-E311V | het unknown | 0.047 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.856 (probably damaging) |
| 0.5 | CACNA1G-R456Q | het unknown | Unknown | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: Unknown | |
| 0.5 | CACNA1G-E1127Shift | het unknown | Unknown | Insufficiently evaluated | Prioritization score: 2 Frameshift | |
| 0.5 | CACNA1G-R1128Shift | het unknown | Unknown | Insufficiently evaluated | Prioritization score: 2 Frameshift | |
| 0.5 | KRT9-SY599RN | het unknown | 0.008 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests |
| 0.5 | KRT14-A94T | homozygous | 0.269 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | KRT14-C63Y | homozygous | 0.976 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | DLX4-N44S | het unknown | 0.009 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown |
| 0.5 | COL1A1-T1075A | homozygous | 0.961 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | PCSK4-T267M | het unknown | 0.025 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.995 (probably damaging) |
| 0.5 | PCSK4-P21S | het unknown | 0.017 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: 0.679 (possibly damaging) |
| 0.5 | GCSH-S21L | homozygous | 0.750 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | NPHP4-V938M | het unknown | Unknown | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests | |
| 0.5 | NPHP4-E618K | het unknown | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests | |
| 0.5 | TSPAN16-S233Shift | het unknown | 0.016 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Frameshift |
| 0.5 | OR2C1-C149W | homozygous | 0.998 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 0.5 | OR2C1-F273Shift | het unknown | 0.016 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Frameshift |
| 0.5 | AK311524-V28A | homozygous | 0.903 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 0.5 | AK311524-W181Shift | het unknown | 0.023 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Frameshift |
| 0.5 | COL17A1-D1370G | homozygous | 0.257 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | COL17A1-M703V | homozygous | 0.672 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | COL17A1-G428S | homozygous | 0.771 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | COL17A1-T210M | homozygous | 0.557 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | ADAMTSL3-H146R | het unknown | 0.706 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: 0.04 (benign) |
| 0.5 | ADAMTSL3-L290V | homozygous | 0.833 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 0.5 | ADAMTSL3-V661L | homozygous | 0.711 | Unknown pharmacogenetic | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 0.5 | ADAMTSL3-L869F | het unknown | 0.272 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: 0.148 (benign) |
| 0.5 | NOTCH3-A2223V | homozygous | 0.553 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | CACNA1A-N2111D | het unknown | Unknown | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview | |
| 0.5 | CACNA1A-E992V | het unknown | Unknown | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview | |
| 0.5 | CACNA1A-E917D | het unknown | Unknown | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview | |
| 0.5 | ETFA-T171I | het unknown | 0.049 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: 0.999 (probably damaging), Testable gene in GeneTests |
| 0.5 | CHRNA3-R37H | het unknown | 0.032 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown |
| 0.5 | VASN-R161Q | het unknown | 0.009 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.862 (probably damaging) |
| 0.5 | VASN-E384A | het unknown | 0.687 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: 0.172 (benign) |
| 0.5 | ABAT-Q56R | homozygous | 0.485 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests |
| 0.5 | EXOC3L-A4* | het unknown | 0.008 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Nonsense mutation |
| 0.5 | TSNAXIP1-R428C | het unknown | 0.023 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.97 (probably damaging) |
| 0.5 | ZNF414-A357P | het unknown | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown | |
| 0.5 | ZNF414-P77S | het unknown | 0.238 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 0.5 | ZFHX3-Q2014H | het unknown | 0.016 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.889 (probably damaging) |
| 0.5 | ZFHX3-V777A | homozygous | 0.810 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 0.5 | ZFHX3-S72A | het unknown | 0.516 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 0.5 | SALL1-V1275I | homozygous | 0.983 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | ADAMTS10-H1101Q | homozygous | 1.000 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | ADAMTS10-T134S | homozygous | 0.910 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: 0.001 (benign), Testable gene in GeneTests with associated GeneReview |
| 0.5 | MYH11-V1296A | het unknown | 0.017 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | ABCC6-R1268Q | het unknown | 0.142 | Unknown pharmacogenetic | Low clinical importance, uncertain | This common polymorphism appears to not have a significant phenotypic impact. A few studies report weak but significant associations with plasma lipids (in Inuits) and thalidomide toxicity. |
| 0.5 | ABCC6-M848V | homozygous | 0.954 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | ABCC6-I742V | het unknown | 0.066 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | ABCC6-R724K | het unknown | 0.008 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | ABCC6-H632Q | het unknown | 0.342 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | ABCC6-V614A | het unknown | 0.354 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | TNRC6A-P312S | het unknown | 0.016 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.991 (probably damaging) |
| 0.5 | TNRC6A-T502S | het unknown | 0.016 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: 0.017 (benign) |
| 0.5 | SH2B1-T484A | homozygous | 0.217 | Unknown pharmacogenetic | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 0.5 | ZNF28-M471T | homozygous | 0.921 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 0.5 | ZNF28-K412Q | homozygous | 0.328 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: 0.4 (possibly damaging) |
| 0.5 | ZNF28-K265Shift | het unknown | Unknown | Insufficiently evaluated | Prioritization score: 2 Frameshift | |
| 0.5 | ZNF28-N141Shift | het unknown | Unknown | Insufficiently evaluated | Prioritization score: 2 Frameshift | |
| 0.5 | CU012959-R95Shift | het unknown | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Frameshift | |
| 0.5 | TPTE-K386E | homozygous | 0.997 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 0.5 | TPTE-R229* | het unknown | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Nonsense mutation | |
| 0.5 | TPTE-R195Q | het unknown | 0.346 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 0.5 | KCNQ2-N780T | homozygous | 0.509 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | IFNGR2-Q64R | homozygous | 0.243 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.004 (benign), Testable gene in GeneTests |
| 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 | MS4A14-I56Shift | het unknown | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Frameshift | |
| 0.5 | MS4A14-N177Y | homozygous | 0.543 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: 0.981 (probably damaging) |
| 0.5 | MS4A14-G584R | het unknown | 0.513 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: 0.003 (benign) |
| 0.5 | PRG3-Y146H | het unknown | 0.034 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.277 (possibly damaging) |
| 0.5 | PRG3-I109T | homozygous | 0.931 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 0.5 | PRG3-C3R | homozygous | 0.924 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: 0.998 (probably damaging) |
| 0.5 | SLCO1B3-S112A | homozygous | 0.646 | Unknown pharmacogenetic | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 0.5 | SLCO1B3-M233I | homozygous | 0.659 | Unknown pharmacogenetic | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: 0.131 (benign) |
| 0.5 | RAG1-H249R | homozygous | 0.615 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests |
| 0.5 | RAG1-K820R | het unknown | 0.239 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.014 (benign), Testable gene in GeneTests |
| 0.5 | SLCO1B1-N130D | het unknown | 0.663 | Unknown pharmacogenetic | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 0.5 | SLCO1B1-P155T | het unknown | 0.071 | Unknown pharmacogenetic | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 0.5 | TRIM64-Q405R | het unknown | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown | |
| 0.5 | HPS5-L417M | het unknown | 0.150 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 4 Polyphen 2: 0.956 (probably damaging), Testable gene in GeneTests with associated GeneReview |
| 0.5 | SLC6A5-G102S | homozygous | 0.420 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | SLC6A5-F124S | homozygous | 0.803 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | SLC6A5-A162G | homozygous | 0.997 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | TUBB1-Q43P | het unknown | 0.007 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.877 (probably damaging) |
| 0.5 | TUBB1-R307H | het unknown | 0.127 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: 0.001 (benign) |
| 0.5 | SALL4-L507R | het unknown | 0.328 | Dominant not reviewed | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: 0.125 (benign), Testable gene in GeneTests with associated GeneReview |
| 0.5 | ROM1-G118A | homozygous | 0.931 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.008 (benign), Testable gene in GeneTests |
| 0.5 | MEN1-T546A | homozygous | 0.791 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | CCDC116-E264K | het unknown | 0.013 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.98 (probably damaging) |
| 0.5 | CCDC116-A436T | het unknown | 0.045 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: 0.023 (benign) |
| 0.5 | CCDC116-C519R | het unknown | 0.306 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 0.5 | CCDC116-A535T | het unknown | 0.048 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: Unknown |
| 0.5 | ATM-N1983S | homozygous | 0.991 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | TRPC6-P15S | het unknown | 0.069 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests |
| 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 | SLC19A1-H27R | homozygous | 0.447 | Unknown pharmacogenetic | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: 0.002 (benign) |
| 0.5 | HSPH1-S132N | het unknown | Unknown | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: Unknown | |
| 0.5 | HSPH1-N131Shift | het unknown | 0.018 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Frameshift |
| 0.5 | PCSK7-R711Q | het unknown | 0.002 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown |
| 0.5 | PCSK7-H708Y | het unknown | Unknown | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: Unknown | |
| 0.5 | C2CD3-R1219Q | homozygous | 0.381 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 0.5 | C2CD3-P773R | het unknown | 0.017 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.777 (possibly damaging) |
| 0.5 | SNX19-L878R | homozygous | 0.808 | Unknown pharmacogenetic | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 0.5 | SNX19-N753S | homozygous | 0.617 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 0.5 | SNX19-L618F | homozygous | 0.994 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 0.5 | SNX19-P480L | het unknown | 0.151 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: 0.977 (probably damaging) |
| 0.5 | SNX19-S407G | het unknown | 0.202 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 0.5 | SNX19-D396E | het unknown | 0.151 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 0.5 | SNX19-G381S | het unknown | 0.151 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: 0.001 (benign) |
| 0.5 | SNX19-V361L | homozygous | 0.671 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 0.5 | SNX19-S317G | het unknown | Unknown | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: Unknown | |
| 0.5 | WNK1-T665I | het unknown | 0.067 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | WNK1-T1056P | homozygous | 0.838 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | WNK1-C1506S | homozygous | 1.000 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | WNK1-M1808I | het unknown | 0.431 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | CBR3-V244M | homozygous | 0.398 | Unknown pharmacogenetic | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: 0.014 (benign) |
| 0.5 | AIP-Q228K | homozygous | 0.732 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests |
| 0.5 | AIP-Q307R | homozygous | 1.000 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests |
| 0.5 | IL10RA-R351G | het unknown | 0.840 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 0.5 | IL10RA-S420L | het unknown | 0.024 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.983 (probably damaging) |
| 0.5 | IGHMBP2-L201S | homozygous | 0.650 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests |
| 0.5 | IGHMBP2-T671A | homozygous | 0.203 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests |
| 0.5 | PLAC4-R42Shift | het unknown | 0.008 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Frameshift |
| 0.5 | GYS2-M363V | homozygous | 0.729 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests |
| 0.5 | SLC16A2-S107P | homozygous | 0.444 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | NRAP-R1566C | het unknown | 0.348 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: 0.853 (probably damaging) |
| 0.5 | NRAP-L1531P | het unknown | 0.079 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.928 (probably damaging) |
| 0.5 | NRAP-I1183V | homozygous | 0.461 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 0.5 | NRAP-S490L | homozygous | 0.294 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: 0.092 (benign) |
| 0.5 | NRAP-Q360R | homozygous | 0.544 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 0.5 | NRAP-A344T | homozygous | 0.546 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 0.5 | NRAP-Y249C | homozygous | 0.215 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: 0.999 (probably damaging) |
| 0.5 | NRAP-V208A | homozygous | 0.914 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 0.5 | PANK2-G126A | homozygous | 0.917 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | HPD-T33A | homozygous | 0.884 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests |
| 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 | PKP2-L366P | homozygous | 0.157 | Unknown benign | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | PKP2-D26N | het unknown | 0.009 | Unknown benign | Insufficiently evaluated | Prioritization score: 4 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | HNF1A-V380D | het unknown | 0.061 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests |
| 0.5 | HNF1A-S574G | homozygous | 0.976 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests |
| 0.5 | HTR2C-C23S | homozygous | 0.191 | Unknown pharmacogenetic | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: 0.004 (benign) |
| 0.5 | HABP2-T50M | het unknown | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests | |
| 0.5 | OPN1LW-S180A | homozygous | 0.229 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: 0.001 (benign), Testable gene in GeneTests with associated GeneReview |
| 0.5 | PARP4-A1656P | het unknown | 0.457 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 0.5 | PARP4-I1564T | homozygous | 0.940 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 0.5 | PARP4-L1550P | homozygous | 0.916 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 0.5 | PARP4-S1459Y | homozygous | 0.938 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 0.5 | PARP4-S1394A | homozygous | 0.930 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 0.5 | PARP4-P1328T | het unknown | 0.388 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 0.5 | PARP4-G1280R | het unknown | 0.421 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 0.5 | PARP4-G1265A | het unknown | 0.406 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 0.5 | PARP4-R1108C | homozygous | 0.845 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 0.5 | PARP4-L1080R | homozygous | 0.930 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 0.5 | PARP4-M936T | homozygous | 0.919 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 0.5 | PARP4-A899T | homozygous | 0.626 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 0.5 | PARP4-I81V | het unknown | 0.031 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown |
| 0.5 | SIGLEC1-A974V | het unknown | 0.547 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: 0.011 (benign) |
| 0.5 | SIGLEC1-H919P | het unknown | 0.746 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 0.5 | SIGLEC1-R464H | het unknown | 0.055 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 1.0 (probably damaging) |
| 0.5 | SIGLEC1-K239R | homozygous | 0.601 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: 0.001 (benign) |
| 0.5 | SIGLEC1-V221M | homozygous | 0.706 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: 0.03 (benign) |
| 0.5 | ZDHHC6-D41N | het unknown | 0.008 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.92 (probably damaging) |
| 0.5 | ULK1-P478L | het unknown | 0.008 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.571 (possibly damaging) |
| 0.5 | ULK1-T816A | homozygous | 0.990 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 0.5 | GOLGA3-K1187N | het unknown | Unknown | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: Unknown | |
| 0.5 | GOLGA3-K1185R | het unknown | 0.318 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: 0.956 (probably damaging) |
| 0.5 | GOLGA3-P264L | het unknown | 0.181 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: 0.063 (benign) |
| 0.5 | GOLGA3-G70E | het unknown | 0.083 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.995 (probably damaging) |
| 0.5 | ATXN2-L107V | homozygous | 0.311 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | CHRNA10-E355A | het unknown | 0.039 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.997 (probably damaging) |
| 0.5 | CHRNA10-G347S | het unknown | 0.039 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: 0.098 (benign) |
| 0.5 | COL2A1-E142D | het unknown | 0.055 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | COL2A1-T9S | homozygous | 0.598 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | CCDC63-Y303F | het unknown | 0.008 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.996 (probably damaging) |
| 0.5 | VDR-M1T | het unknown | 0.687 | Unknown pharmacogenetic | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: 0.999 (probably damaging), Testable gene in GeneTests |
| 0.5 | ZBED5-Q47R | het unknown | 0.036 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown |
| 0.5 | ZBED5-A17V | het unknown | 0.037 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown |
| 0.5 | NELL2-N397D | het unknown | 0.014 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown |
| 0.5 | INSC-D333N | het unknown | 0.007 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: 0.985 (probably damaging) |
| 0.5 | SMPD1-AL48Del | het unknown | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview | |
| 0.5 | SMPD1-AL48Del | het unknown | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview | |
| 0.5 | SMPD1-G508R | het unknown | 0.151 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | ADCY6-R138H | het unknown | 0.008 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.999 (probably damaging) |
| 0.5 | DMD-R2937Q | homozygous | 0.899 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | DMD-K2366Q | homozygous | 0.152 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: 0.875 (probably damaging), Testable gene in GeneTests with associated GeneReview |
| 0.5 | BBS10-P539L | het unknown | 0.039 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.19 (benign), Testable gene in GeneTests with associated GeneReview |
| 0.5 | CRLS1-A20T | het unknown | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: 0.012 (benign) | |
| 0.5 | CRLS1-P193L | het unknown | 0.048 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.988 (probably damaging) |
| 0.5 | CTSD-A58V | het unknown | 0.067 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: 0.003 (benign), Testable gene in GeneTests with associated GeneReview |
| 0.5 | H19-G355R | het unknown | 0.359 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | H19-V94I | het unknown | 0.361 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | H19-W38R | het unknown | 0.342 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | H19-T25M | het unknown | 0.016 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | KRT84-C446R | het unknown | 0.864 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 0.5 | KRT84-D181Y | het unknown | 0.008 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.997 (probably damaging) |
| 0.5 | KRT84-R71W | het unknown | Unknown | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: Unknown | |
| 0.5 | MMP9-Q279R | homozygous | 0.477 | Unknown pharmacogenetic | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 0.5 | MMP9-R574P | homozygous | 0.813 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 0.375 | ROR2-V819I | het unknown | 0.798 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.375 | ROR2-S762L | het unknown | Unknown | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview | |
| 0.375 | ROR2-T245A | het unknown | 0.619 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.375 | MYO7A-L16S | het unknown | 0.550 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.375 | MYO7A-R1463C | het unknown | Unknown | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview | |
| 0.375 | APC-L1129S | het unknown | Unknown | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview | |
| 0.375 | APC-V1822D | het unknown | 0.887 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.375 | PFKM-R100Q | het unknown | 0.164 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.01 (benign), Testable gene in GeneTests |
| 0.375 | PFKM-R696H | het unknown | Unknown | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests | |
| 0.375 | GPT-H14N | het unknown | 0.363 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.375 | GPT-R442H | het unknown | Unknown | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview | |
| 0.375 | FBN2-I2394T | het unknown | Unknown | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview | |
| 0.375 | FBN2-M2311V | het unknown | 0.242 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.375 | FBN2-V965I | het unknown | 0.714 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.375 | NPHS1-T762I | het unknown | Unknown | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests | |
| 0.375 | NPHS1-E117K | het unknown | 0.297 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: 0.997 (probably damaging), Testable gene in GeneTests |
| 0.25 | THBD-A473V | het unknown | 0.117 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.25 | HMCN1-I2418T | het unknown | 0.553 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: 0.468 (possibly damaging), Testable gene in GeneTests |
| 0.25 | HMCN1-E2893G | het unknown | 0.617 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.91 (probably damaging), Testable gene in GeneTests |
| 0.25 | HMCN1-Q4437R | het unknown | 0.547 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.997 (probably damaging), Testable gene in GeneTests |
| 0.25 | GRP-R4S | homozygous | 0.724 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 0.25 | GRP-R141Shift | het unknown | Unknown | Insufficiently evaluated | Prioritization score: 2 Frameshift | |
| 0.25 | CFHR1-H157Y | het unknown | 0.169 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.25 | CFHR1-L159V | het unknown | 0.473 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.25 | CFHR1-E175Q | het unknown | 0.518 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.25 | SEPN1-C108Y | het unknown | 0.789 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.25 | SHANK3-I245T | het unknown | 0.357 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.25 | XPC-Q939K | het unknown | 0.683 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.25 | XPC-A499V | het unknown | 0.188 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.25 | MED16-E874K | het unknown | 0.293 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: 0.009 (benign) |
| 0.25 | MED16-P709Shift | het unknown | Unknown | Insufficiently evaluated | Prioritization score: 2 Frameshift | |
| 0.25 | CYP4B1-R173W | het unknown | 0.184 | Unknown pharmacogenetic | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 0.25 | LHX4-N328S | het unknown | 0.389 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests |
| 0.25 | SCO2-R20P | het unknown | 0.690 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests |
| 0.25 | FAAH-P129T | het unknown | 0.237 | Unknown pharmacogenetic | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: 0.001 (benign) |
| 0.25 | PLOD1-A99T | het unknown | 0.313 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.25 | PLOD1-A120S | het unknown | 0.152 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.01 (benign), Testable gene in GeneTests with associated GeneReview |
| 0.25 | FAM83E-P311L | het unknown | 0.140 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.996 (probably damaging) |
| 0.25 | FAM83E-T91A | het unknown | 0.560 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 0.25 | FAM198A-L435* | het unknown | Unknown | Insufficiently evaluated | Prioritization score: 2 Nonsense mutation | |
| 0.25 | FAM198A-G539S | het unknown | 0.132 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: 0.98 (probably damaging) |
| 0.25 | HGS-R557Shift | het unknown | Unknown | Insufficiently evaluated | Prioritization score: 2 Frameshift | |
| 0.25 | HGS-A733S | het unknown | 0.134 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 0.25 | TRIB3-Q84R | het unknown | 0.188 | Unknown pharmacogenetic | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 0.25 | KISS1-*139Shift | het unknown | Unknown | Insufficiently evaluated | Prioritization score: 2 Frameshift | |
| 0.25 | KISS1-P81R | het unknown | 0.288 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 0.25 | ACOX1-I312M | het unknown | 0.492 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests |
| 0.25 | DNAH14-T43S | het unknown | 0.048 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: Unknown |
| 0.25 | DNAH14-F405L | het unknown | 0.030 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: Unknown |
| 0.25 | DNAH14-L828V | homozygous | 0.710 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 0.25 | DNAH14-K1010R | homozygous | 0.617 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 0.25 | DNAH14-R1011Q | homozygous | 0.674 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 0.25 | DNAH14-N1099Y | het unknown | 0.677 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 0.25 | DNAH14-M1110I | homozygous | 0.663 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 0.25 | DNAH14-Y1392D | het unknown | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: 0.007 (benign) | |
| 0.25 | DNAH14-K1925Shift | het unknown | Unknown | Insufficiently evaluated | Prioritization score: 2 Frameshift | |
| 0.25 | DNAH14-N2435S | het unknown | 0.030 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: Unknown |
| 0.25 | DNAH14-N3969K | het unknown | 0.346 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 0.25 | LBR-S154N | het unknown | 0.713 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests |
| 0.25 | FAM59A-I812V | het unknown | 0.060 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 0.25 | FAM59A-P512Shift | het unknown | Unknown | Insufficiently evaluated | Prioritization score: 2 Frameshift | |
| 0.25 | CDA-K27Q | het unknown | 0.190 | Unknown pharmacogenetic | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 0.25 | KLF11-Q62R | het unknown | 0.102 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.986 (probably damaging), Testable gene in GeneTests |
| 0.25 | EDARADD-M9I | het unknown | 0.726 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.25 | RYR2-Q2958R | het unknown | 0.133 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.25 | FMO2-S195L | het unknown | 0.465 | Unknown pharmacogenetic | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 0.25 | NDUFS7-P23L | het unknown | 0.437 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.001 (benign), Testable gene in GeneTests |
| 0.25 | CASP10-L522I | het unknown | 0.309 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.25 | ZNF571-L573H | het unknown | 0.457 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: 0.999 (probably damaging) |
| 0.25 | ZNF571-Q534* | het unknown | Unknown | Insufficiently evaluated | Prioritization score: 2 Nonsense mutation | |
| 0.25 | ZNF571-R458H | het unknown | 0.008 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: 0.832 (possibly damaging) |
| 0.25 | ZNF571-E252D | het unknown | 0.433 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: 0.182 (benign) |
| 0.25 | HPS4-Q620H | het unknown | 0.806 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: 0.859 (probably damaging), Testable gene in GeneTests with associated GeneReview |
| 0.25 | HPS4-H601Y | het unknown | 0.807 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.25 | HPS4-V547M | het unknown | 0.780 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.25 | HPS4-L438V | het unknown | 0.344 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.25 | HPS4-E224G | het unknown | 0.779 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.25 | CASP8-M1T | het unknown | 0.031 | Unknown benign | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: 0.999 (probably damaging), Testable gene in GeneTests |
| 0.25 | CASP8-K14R | het unknown | 0.640 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests |
| 0.25 | TNFRSF1B-M196R | het unknown | 0.206 | Unknown pharmacogenetic | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: 0.986 (probably damaging) |
| 0.25 | MYO7B-L1152V | het unknown | 0.086 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: 0.007 (benign) |
| 0.25 | MYO7B-E1350L | het unknown | Unknown | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: Unknown | |
| 0.25 | MYO7B-L1351Shift | het unknown | Unknown | Insufficiently evaluated | Prioritization score: 2 Frameshift | |
| 0.25 | PRODH-R521Q | het unknown | 0.887 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests |
| 0.25 | PRODH-W185R | het unknown | 0.826 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: Unknown, Testable gene in GeneTests |
| 0.25 | PRODH-P19Q | het unknown | 0.562 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests |
| 0.25 | DAPL1-A66T | het unknown | 0.110 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 0.25 | DAPL1-R105* | het unknown | Unknown | Insufficiently evaluated | Prioritization score: 2 Nonsense mutation | |
| 0.25 | ITGA6-A380T | het unknown | 0.253 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.25 | MAN2B1-R337Q | het unknown | 0.237 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: 0.027 (benign), Testable gene in GeneTests with associated GeneReview |
| 0.25 | MAN2B1-T312I | het unknown | 0.324 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.045 (benign), Testable gene in GeneTests with associated GeneReview |
| 0.25 | PCNT-G704E | homozygous | 0.855 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: Unknown, Testable gene in GeneTests |
| 0.25 | PCNT-V1038A | homozygous | 0.847 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: Unknown, Testable gene in GeneTests |
| 0.25 | PCNT-V1125Shift | het unknown | Unknown | Insufficiently evaluated | Prioritization score: 3 Frameshift, Testable gene in GeneTests | |
| 0.25 | PCNT-Q2659H | het unknown | 0.572 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: 0.849 (possibly damaging), Testable gene in GeneTests |
| 0.25 | PCNT-Q2792R | het unknown | 0.732 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: 0.006 (benign), Testable gene in GeneTests |
| 0.25 | PCNT-A2903T | het unknown | 0.056 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: 0.085 (benign), Testable gene in GeneTests |
| 0.25 | NEUROD1-T45A | het unknown | 0.754 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests |
| 0.25 | KCNE1-S38G | het unknown | 0.710 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: 0.003 (benign), Testable gene in GeneTests with associated GeneReview |
| 0.25 | CTH-S403I | het unknown | 0.175 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests |
| 0.25 | FSHR-S680N | het unknown | 0.605 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests |
| 0.25 | FSHR-A307T | het unknown | 0.486 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests |
| 0.25 | EP300-I997V | het unknown | 0.176 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.25 | FMO3-E158K | het unknown | 0.374 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.25 | FMO3-E308G | het unknown | 0.104 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: 0.141 (benign), Testable gene in GeneTests with associated GeneReview |
| 0.25 | COL6A1-S116N | het unknown | 0.056 | Dominant benign | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.08 (benign), Testable gene in GeneTests with associated GeneReview |
| 0.25 | COL6A1-S890L | het unknown | 0.203 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.25 | LHCGR-N312S | het unknown | 0.573 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests |
| 0.25 | STXBP2-I526V | het unknown | 0.725 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.25 | MCEE-R104L | het unknown | 0.194 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.003 (benign), Testable gene in GeneTests with associated GeneReview |
| 0.25 | TRIOBP-S217N | het unknown | 0.413 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.914 (probably damaging), Testable gene in GeneTests |
| 0.25 | TRIOBP-Q398Del | het unknown | 0.308 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: Unknown, Testable gene in GeneTests |
| 0.25 | TRIOBP-N863K | het unknown | 0.342 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.98 (probably damaging), Testable gene in GeneTests |
| 0.25 | TRIOBP-F1187L | het unknown | 0.320 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.995 (probably damaging), Testable gene in GeneTests |
| 0.25 | TRIOBP-H1300R | homozygous | 0.431 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: 0.006 (benign), Testable gene in GeneTests |
| 0.25 | TRIOBP-E1372D | het unknown | 0.237 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: 0.293 (possibly damaging), Testable gene in GeneTests |
| 0.25 | TRIOBP-W1377R | homozygous | 0.964 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: 0.084 (benign), Testable gene in GeneTests |
| 0.25 | ICAM1-K469E | het unknown | 0.297 | Unknown pharmacogenetic | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 0.25 | EIF2AK3-A704S | het unknown | 0.756 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests |
| 0.25 | EIF2AK3-Q166R | het unknown | 0.690 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests |
| 0.25 | EIF2AK3-S136C | het unknown | 0.285 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests |
| 0.25 | TCHH-R951Shift | het unknown | Unknown | Insufficiently evaluated | Prioritization score: 2 Frameshift | |
| 0.25 | TCHH-L63R | homozygous | 0.983 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 0.25 | CTLA4-T17A | het unknown | 0.463 | Unknown pharmacogenetic | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: 0.001 (benign) |
| 0.25 | GART-V421I | homozygous | 0.873 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 0.25 | GART-E112Shift | het unknown | Unknown | Insufficiently evaluated | Prioritization score: 2 Frameshift | |
| 0.25 | CLCN7-V418M | het unknown | 0.103 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.25 | FLNB-D1157N | het unknown | 0.538 | 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 | 0.607 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.02 (benign), Testable gene in GeneTests with associated GeneReview |
| 0.25 | C8orf49-G26R | homozygous | Unknown | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: Unknown | |
| 0.25 | C8orf49-I81V | het unknown | Unknown | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: Unknown | |
| 0.25 | C8orf49-C194* | het unknown | Unknown | Insufficiently evaluated | Prioritization score: 2 Nonsense mutation | |
| 0.25 | CELA1-L210Shift | het unknown | 0.156 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 1 Frameshift |
| 0.25 | CELA1-M59V | het unknown | 0.142 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: 0.24 (possibly damaging) |
| 0.25 | CELA1-Y5P | het unknown | Unknown | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: Unknown | |
| 0.25 | CELA1-V3Shift | het unknown | Unknown | Insufficiently evaluated | Prioritization score: 2 Frameshift | |
| 0.25 | NOS3-D298E | het unknown | 0.844 | Unknown pharmacogenetic | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: Unknown |
| 0.25 | KRT6C-R182Q | het unknown | 0.281 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.805 (possibly damaging), Testable gene in GeneTests with associated GeneReview |
| 0.25 | NAT2-I114T | het unknown | 0.220 | Recessive pharmacogenetic | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 0.25 | NAT2-R268K | het unknown | 0.675 | Unknown pharmacogenetic | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 0.25 | ESCO2-A80V | het unknown | 0.147 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.25 | NR_024420-L139R | het unknown | Unknown | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: Unknown | |
| 0.25 | NR_024420-Q68Shift | het unknown | Unknown | Insufficiently evaluated | Prioritization score: 2 Frameshift | |
| 0.25 | C12orf60-K65R | het unknown | Unknown | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: Unknown | |
| 0.25 | C12orf60-N103K | het unknown | Unknown | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: Unknown | |
| 0.25 | C12orf60-M184Shift | het unknown | Unknown | Insufficiently evaluated | Prioritization score: 2 Frameshift | |
| 0.25 | ADAM3A-R356W | het unknown | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: Unknown | |
| 0.25 | ADAM3A-L329Shift | het unknown | Unknown | Insufficiently evaluated | Prioritization score: 2 Frameshift | |
| 0.25 | ADAM3A-R215G | het unknown | Unknown | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: Unknown | |
| 0.25 | ADRB3-W64R | het unknown | 0.105 | Unknown pharmacogenetic | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 0.25 | RNF5P1-G118Shift | het unknown | Unknown | Insufficiently evaluated | Prioritization score: 2 Frameshift | |
| 0.25 | RNF5P1-A56ET | homozygous | Unknown | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: Unknown | |
| 0.25 | RNF5P1-D8G | het unknown | 0.259 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 0.25 | KRT5-S528G | het unknown | 0.152 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.25 | ATP6V0A4-V2A | het unknown | 0.680 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests |
| 0.25 | ATP7B-V1140A | het unknown | 0.495 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.25 | ATP7B-R952K | het unknown | 0.481 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.25 | ATP7B-K832R | het unknown | 0.455 | 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 | 0.360 | 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 | 0.355 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: 0.001 (benign), Testable gene in GeneTests with associated GeneReview |
| 0.25 | OPRM1-N40D | het unknown | 0.204 | Unknown pharmacogenetic | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 0.25 | OPRM1-Q402H | homozygous | 0.882 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 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-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 | LAMA2-V1138M | het unknown | 0.142 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests |
| 0.25 | LAMA2-A2585V | het unknown | 0.594 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: Unknown, Testable gene in GeneTests |
| 0.25 | EYA4-G277S | het unknown | 0.467 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.697 (possibly damaging), Testable gene in GeneTests with associated GeneReview |
| 0.25 | CCDC70-R73* | het unknown | Unknown | Insufficiently evaluated | Prioritization score: 2 Nonsense mutation | |
| 0.25 | CCDC70-I206V | het unknown | 0.352 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 0.25 | SDK1-S58P | homozygous | Unknown | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: Unknown | |
| 0.25 | SDK1-S1223* | het unknown | Unknown | Insufficiently evaluated | Prioritization score: 2 Nonsense mutation | |
| 0.25 | SDK1-H1641R | homozygous | 0.818 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: 0.003 (benign) |
| 0.25 | ABCB1-S893A | het unknown | 0.625 | Unknown pharmacogenetic | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 0.25 | ELN-G422S | het unknown | 0.225 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.25 | GLI3-P998L | het unknown | 0.444 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.25 | GLI3-T183A | het unknown | 0.663 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.25 | RNF207-N573S | het unknown | 0.474 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 0.25 | RNF207-G603A | het unknown | 0.165 | Unknown pharmacogenetic | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: 0.006 (benign) |
| 0.25 | SLC25A15-I254L | het unknown | 0.325 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests |
| 0.25 | SCNN1A-T722A | homozygous | 0.790 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: Unknown, Testable gene in GeneTests |
| 0.25 | SCNN1A-R240W | het unknown | Unknown | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests | |
| 0.25 | VWF-T1381A | het unknown | 0.754 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.25 | VWF-Q852R | het unknown | 0.904 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.25 | VWF-H484R | het unknown | 0.498 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: 0.83 (possibly damaging), Testable gene in GeneTests with associated GeneReview |
| 0.25 | TH-V108M | het unknown | 0.416 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.25 | ART1-T101S | het unknown | 0.039 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: Unknown |
| 0.25 | ART1-G270Shift | het unknown | Unknown | Insufficiently evaluated | Prioritization score: 2 Frameshift | |
| 0.25 | CLCNKA-R83G | het unknown | 0.653 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests |
| 0.25 | CLCNKA-A447T | het unknown | 0.688 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests |
| 0.25 | USH1C-E819D | het unknown | 0.408 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.25 | SBF2-Q1216E | het unknown | 0.118 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.03 (benign), Testable gene in GeneTests with associated GeneReview |
| 0.25 | BMPR1A-P2T | het unknown | 0.549 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.25 | PLCE1-R548L | het unknown | 0.188 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: 0.998 (probably damaging), Testable gene in GeneTests |
| 0.25 | CALHM1-L86P | het unknown | 1.000 | Unknown pharmacogenetic | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 0.25 | SCD-M224L | het unknown | 0.377 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests |
| 0.25 | TACC2-W1103R | homozygous | 0.964 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: 0.003 (benign) |
| 0.25 | TACC2-T2286Shift | het unknown | Unknown | Insufficiently evaluated | Prioritization score: 2 Frameshift | |
| 0.25 | TACC2-A2732T | het unknown | 0.238 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 0.25 | ACADSB-R13K | het unknown | 0.171 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.08 (benign), Testable gene in GeneTests |
| 0.25 | ACADSB-I316V | het unknown | 0.055 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: Unknown, Testable gene in GeneTests |
| 0.25 | ARMS2-R38* | het unknown | 0.124 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 3 Nonsense mutation, Testable gene in GeneTests |
| 0.25 | GPR158-A425G | homozygous | 0.441 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 0.25 | GPR158-R675* | het unknown | Unknown | Insufficiently evaluated | Prioritization score: 2 Nonsense mutation | |
| 0.25 | ADAMTS13-Q448E | het unknown | 0.211 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests |
| 0.25 | MTMR2-K3T | het unknown | 0.216 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.25 | CD3G-V131F | het unknown | 0.265 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.773 (possibly damaging), Testable gene in GeneTests |
| 0.25 | USP2-D73Shift | het unknown | Unknown | Insufficiently evaluated | Prioritization score: 2 Frameshift | |
| 0.25 | USP2-L71LPSSL | het unknown | Unknown | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: Unknown | |
| 0.25 | TMEM67-I604V | het unknown | 0.710 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.25 | NM_016134-R31Shift | het unknown | Unknown | Insufficiently evaluated | Prioritization score: 2 Frameshift | |
| 0.25 | NM_016134-V287I | het unknown | Unknown | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: Unknown | |
| 0.25 | FAM201A-G53D | het unknown | Unknown | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: Unknown | |
| 0.25 | FAM201A-Q115* | het unknown | Unknown | Insufficiently evaluated | Prioritization score: 2 Nonsense mutation | |
| 0.25 | PIP5K1B-L167Shift | het unknown | Unknown | Insufficiently evaluated | Prioritization score: 2 Frameshift | |
| 0.25 | PIP5K1B-A415T | het unknown | 0.088 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 0.25 | ABO-V276M | het unknown | 0.218 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 0.25 | ABO-F215I | het unknown | 0.338 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 0.25 | ABO-W180* | het unknown | Unknown | Insufficiently evaluated | Prioritization score: 2 Nonsense mutation | |
| 0.25 | ABO-S74P | het unknown | 0.742 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 0.25 | ABO-H63R | het unknown | 0.710 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 0.25 | ABO-F36V | het unknown | 0.738 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 0.25 | CDK5RAP2-V1540L | het unknown | 0.714 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.25 | CDK5RAP2-E289Q | het unknown | 0.801 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.25 | IKBKAP-P1158L | het unknown | 0.268 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.25 | IKBKAP-C1072S | het unknown | 0.270 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.25 | ALG8-N222S | het unknown | 0.120 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: 0.001 (benign), Testable gene in GeneTests with associated GeneReview |
| 0.25 | BAAT-R201P | het unknown | 0.160 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: Unknown, Testable gene in GeneTests |
| 0.25 | BAAT-R20Q | het unknown | 0.569 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.136 (benign), Testable gene in GeneTests |
| 0.25 | FAM162B-Q71H | het unknown | 0.088 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: 0.939 (probably damaging) |
| 0.25 | FAM162B-R68Shift | het unknown | Unknown | Insufficiently evaluated | Prioritization score: 2 Frameshift | |
| 0.25 | RSPH4A-L589P | het unknown | 0.707 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.25 | LRRC50-E432D | het unknown | 0.113 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.017 (benign), Testable gene in GeneTests with associated GeneReview |
| 0.25 | TLR6-S249P | het unknown | 0.855 | Unknown pharmacogenetic | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 0.25 | TLR1-S602I | het unknown | 0.727 | Unknown pharmacogenetic | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 0.25 | TLR1-H305L | het unknown | 0.026 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: 0.318 (possibly damaging) |
| 0.25 | TLR1-N248S | het unknown | 0.643 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: 0.001 (benign) |
| 0.25 | SLC2A9-P350L | homozygous | 0.232 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: Unknown, Testable gene in GeneTests |
| 0.25 | SLC2A9-R294H | het unknown | 0.296 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 1.0 (probably damaging), Testable gene in GeneTests |
| 0.25 | SLC2A9-G25R | het unknown | 0.358 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: Unknown, Testable gene in GeneTests |
| 0.25 | DHODH-K7Q | het unknown | 0.560 | Unknown pharmacogenetic | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: 0.004 (benign) |
| 0.25 | TAT-P15S | het unknown | 0.110 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.002 (benign), Testable gene in GeneTests |
| 0.25 | GLIS2-T492A | het unknown | 0.125 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.949 (probably damaging), Testable gene in GeneTests |
| 0.25 | TLR3-L412F | het unknown | 0.200 | Unknown pharmacogenetic | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: 0.991 (probably damaging) |
| 0.25 | FGB-R478K | het unknown | 0.146 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests |
| 0.25 | HADH-L86P | het unknown | 0.859 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.25 | NOD2-P268S | het unknown | 0.105 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests |
| 0.25 | MYH3-A1759AKKAKKA | het unknown | Unknown | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests | |
| 0.25 | MYH3-A1192T | homozygous | 0.544 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: Unknown, Testable gene in GeneTests |
| 0.25 | DOK7-H113P | het unknown | 0.183 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.25 | DOK7-R120Q | het unknown | 0.146 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.25 | DOK7-T137I | het unknown | 0.177 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.25 | HGD-Q80H | het unknown | 0.742 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.25 | BRIP1-S919P | het unknown | 0.652 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.25 | SCN4A-S524G | het unknown | 0.938 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.25 | DNAI2-V495I | het unknown | 0.258 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.25 | DNAI2-A558T | het unknown | 0.674 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.25 | COG1-N392S | het unknown | 0.536 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.25 | SLC2A2-T110I | het unknown | 0.234 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests |
| 0.25 | ITGB3-L59P | het unknown | 0.109 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.02 (benign), Testable gene in GeneTests |
| 0.25 | DNAH9-R24Shift | het unknown | Unknown | Insufficiently evaluated | Prioritization score: 2 Frameshift | |
| 0.25 | DNAH9-Q445R | homozygous | 0.985 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 0.25 | DNAH9-R2072H | het unknown | Unknown | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: Unknown | |
| 0.25 | DNAH9-N2195S | het unknown | 0.235 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: 0.174 (benign) |
| 0.25 | DNAH9-D4036N | het unknown | 0.182 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: 0.031 (benign) |
| 0.25 | DNAH9-M4374I | het unknown | 0.155 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: 0.659 (possibly damaging) |
| 0.25 | MYO15A-A595T | het unknown | 0.557 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: Unknown, Testable gene in GeneTests |
| 0.25 | MYO15A-W718G | het unknown | 0.100 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: Unknown, Testable gene in GeneTests |
| 0.25 | MYO15A-C1977R | homozygous | 0.746 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: Unknown, Testable gene in GeneTests |
| 0.25 | MYO15A-Y2682F | het unknown | 0.215 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests |
| 0.25 | GAS2L2-A654V | het unknown | 0.255 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 0.25 | GAS2L2-G257Shift | het unknown | Unknown | Insufficiently evaluated | Prioritization score: 2 Frameshift | |
| 0.25 | GAS2L2-A164V | homozygous | 0.125 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: 0.042 (benign) |
| 0.25 | JUP-M697L | het unknown | 0.520 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.25 | OPA1-S158N | het unknown | 0.482 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: 0.002 (benign), Testable gene in GeneTests with associated GeneReview |
| 0.25 | GHR-I544L | het unknown | 0.473 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: 0.98 (probably damaging), Testable gene in GeneTests |
| 0.25 | FANCI-A86V | het unknown | 0.219 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.25 | FANCI-C742S | het unknown | 0.234 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.25 | CYP21A2-R103K | het unknown | 0.216 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.25 | SPATA7-D2N | het unknown | 0.155 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.665 (possibly damaging), Testable gene in GeneTests with associated GeneReview |
| 0.25 | SPATA7-V74M | het unknown | 0.412 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.25 | ATXN3-V212M | het unknown | 0.358 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.25 | RYR3-I1160Shift | het unknown | Unknown | Insufficiently evaluated | Prioritization score: 2 Frameshift | |
| 0.25 | RYR3-R1641C | het unknown | 0.769 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 0.25 | RYR3-G2270E | homozygous | 0.865 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 0.25 | TRIM15-S324N | het unknown | 0.155 | Unknown pharmacogenetic | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 0.25 | COL11A2-E276K | het unknown | 0.320 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: 0.651 (possibly damaging), Testable gene in GeneTests with associated GeneReview |
| 0.25 | TULP1-K261N | het unknown | 0.805 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.25 | TULP1-I259T | het unknown | 0.344 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.25 | TULP1-T67R | het unknown | 0.877 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.25 | WISP3-Q74H | het unknown | 0.334 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests |
| 0.25 | SLC22A16-H49R | het unknown | 0.333 | Unknown pharmacogenetic | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 0.25 | LMBRD1-D469E | het unknown | 0.393 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.001 (benign), Testable gene in GeneTests with associated GeneReview |
| 0.25 | MTHFD1-K134R | het unknown | 0.846 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 0.25 | MTHFD1-R653Q | het unknown | 0.320 | Unknown pharmacogenetic | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: 0.008 (benign) |
| 0.25 | SIX6-H141N | het unknown | 0.314 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.008 (benign), Testable gene in GeneTests with associated GeneReview |
| 0.25 | SPG11-F463S | het unknown | 0.470 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.25 | SLC28A2-P22L | het unknown | 0.248 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 0.25 | SLC28A2-S75R | het unknown | 0.253 | Unknown pharmacogenetic | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 0.25 | HSD17B4-W511R | het unknown | 0.126 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: 0.984 (probably damaging), Testable gene in GeneTests |
| 0.25 | HSD17B4-I559V | het unknown | 0.392 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: 0.111 (benign), Testable gene in GeneTests |
| 0.25 | LMAN1L-T497Shift | het unknown | Unknown | Insufficiently evaluated | Prioritization score: 2 Frameshift | |
| 0.25 | LMAN1L-R516M | het unknown | 0.102 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: 0.992 (probably damaging) |
| 0.25 | WDR36-I264V | het unknown | 0.223 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests |
| 0.25 | ARSB-V358M | het unknown | 0.249 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.117 (benign), Testable gene in GeneTests |
| 0.25 | SLC28A1-L140LV | het unknown | Unknown | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: Unknown | |
| 0.25 | SLC28A1-V189I | het unknown | 0.313 | Unknown pharmacogenetic | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 0.25 | SLC28A1-Q237K | het unknown | 0.241 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 0.25 | SLC28A1-D521N | het unknown | 0.226 | Unknown pharmacogenetic | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 0.25 | IL13-Q144R | het unknown | 0.766 | Unknown pharmacogenetic | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 0.25 | BBS4-I354T | het unknown | 0.399 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.25 | TLN2-S460* | het unknown | Unknown | Insufficiently evaluated | Prioritization score: 2 Nonsense mutation | |
| 0.25 | TLN2-SG461RR | het unknown | 0.009 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: Unknown |
| 0.25 | TLN2-R666Q | het unknown | Unknown | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: Unknown | |
| 0.25 | TLN2-E1045D | het unknown | Unknown | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: Unknown | |
| 0.25 | AAGAB-I132L | het unknown | 0.309 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: 0.018 (benign) |
| 0.25 | AAGAB-Y54* | het unknown | Unknown | Insufficiently evaluated | Prioritization score: 2 Nonsense mutation | |
| 0.25 | SH3TC2-A468S | het unknown | 0.198 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.001 (benign), Testable gene in GeneTests with associated GeneReview |
| 0.25 | SRA1-V110RL | het unknown | 0.360 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.25 | SPINK5-Q267R | het unknown | 0.475 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests |
| 0.25 | SPINK5-A335V | het unknown | 0.381 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests |
| 0.25 | SPINK5-S368N | het unknown | 0.363 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests |
| 0.25 | SPINK5-K420E | het unknown | 0.380 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests |
| 0.25 | SPINK5-R711Q | het unknown | 0.469 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests |
| 0 | MBL2-G54D | het unknown | 0.102 | Recessive pathogenic | Low clinical importance, likely | This variant is associated with mannose binding protein deficiency which leads to impaired complement system immune response to mannose-rich pathogens. Patients homozygous for this allele or compound heterozygous are likely to have increased susceptibility to infection, but Hellemann et al. report heterosis for intensive care outcomes in heterozygous subjects. The wild-type version of this gene is known as variant allele A, while this is called variant allele B. See R52C (variant D) and G57E (variant C). |
| 0 | NOTCH2-P6Shift | het unknown | Unknown | Insufficiently evaluated | Prioritization score: 4 Frameshift, Testable gene in GeneTests with associated GeneReview | |
| 0 | MEFV-R202Q | het unknown | 0.111 | Recessive pathogenic | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: 0.019 (benign), Testable gene in GeneTests with associated GeneReview |
| 0 | RNASEH2B-I309Shift | het unknown | 0.023 | Recessive pathogenic | High clinical importance, uncertain | Variants in this protein are implicated in causing Aicardi-Goutieres syndrome in a recessive manner, a rare congenital disease in infants that is usually fatal in the first few years. All families with this gene implicated as causal have disruptive substitutions upstream of this location, so it is unclear whether this downstream frameshift mutation would the same pathogenic effect. |
| 0 | BTD-D444H | het unknown | 0.007 | Recessive pathogenic | Low clinical importance, well-established | This variant is implicated in partial and profound biotinidase deficiency. Alone, this variant is estimated to have a 52% loss of enzymatic activity. This variant is often found with A171T, and together they are reported to cause profound deficiency. Notably there is a report of asymptomatic double-mutant adults, so symptoms may have variable penetrance. This variant is found compound heterozygously with more serious mutations in cases of partial biotinidase deficiency. |
Input file format: CGIVAR
Genome build: b37
Genome coverage: 2,793,054,316 bases (97.7% of callable positions, 90.7% of total positions)
Coding region coverage: 32,972,026 bases (99.1% of all genes, 99.6% of genes with clinical testing available)
Chromosomes: chr1, chr10, chr11, chr12, chr13, chr14, chr15, chr16, chr17, chr18, chr19, chr2, chr20, chr21, chr22, chr3, chr4, chr5, chr6, chr7, chr8, chr9, chrM, chrX, chrY