Variant report for huD81F3D
- Data source: CGI sample GS01173-DNA_D06 from PGP sample 69488604
- This report: evidence.pgp-hms.org/genomes?82c71a90fd03d901ca24c3cfe274460775229ec5
- Person ID: huD81F3D
- public profile: my.pgp-hms.org/profile/huD81F3D
- Download: source data, dbSNP and nsSNP report (121 MB)
- Processing status: processing
- Show debugging info
Log file:
| Row number | Variant | Clinical Importance | Evidence | Impact | Allele freq | Summary | Sufficient |
|---|---|---|---|---|---|---|---|
| 1 | ACTN2-Q9R | High | Uncertain | Uncertain pathogenic Dominant, Heterozygous | 0.000557724 | Hypothesized to cause dilated cardiomyopathy in a dominant manner, but observations lack statistical significance. | 1 |
| 2 | TGM1-E520G | Moderate | Uncertain | Uncertain pathogenic Recessive, Carrier (Heterozygous) | 0.00641502 | This variant was found in three individuals with lamellar ichthyosis (two homozygous and one compound het.) in two publications, but insufficient controls makes it difficult to assess significance. | 1 |
| 3 | PPARG-P12A | Moderate | Uncertain | Uncertain not reviewed Unknown, Heterozygous | 0.0886782 | 1 | |
| 4 | MTRR-I49M | Low | Likely | Likely pathogenic Recessive, Homozygous | 0.451199 | This common variant (HapMap allele frequency of 31.3%) in a protein involved in folate (B9) and cobalamin (B12) metabolism and is often reported as "MTRR I22M" (an alternative transcript position). Mothers homozygous for this variant are associated with having around a increased chance of a child with Down syndrome (risk of 0.4%, average risk in population is 0.25%). Notably, age plays a far larger role in the rate of Down syndrome (risk is 4.5% for a mother 45-years-of-age), and it is unknown how this variant may combine with the effect of age. There are conflicting reports associating this variant with incidence of neural tube defects, possibly when combined with MTHFR A222V. | 1 |
| 5 | COL4A1-Q1334H | Low | Likely | Likely pathogenic Dominant, Homozygous | 0.324689 | This common variant has been associated with arterial stiffness and, in Japanese, a small increased risk of myocardial infarction (MI, a.k.a. heart attack). This last observation supported a dominant effect for this variant and, assuming a lifetime risk of 15% for MI, we estimate carriers have an additional risk of 0.5-3%. | 1 |
| 6 | MBL2-R52C | Low | Likely | Likely pathogenic Recessive, Carrier (Heterozygous) | 0.048615 | This variant is associated with mannose binding protein deficiency which leads to impaired complement system immune response to mannose-rich pathogens. Patients homozygous for this allele or compound heterozygous are likely to have increased susceptibility to infection, but Hellemann et al. report heterosis for intensive care outcomes in heterozygous subjects. The wild-type version of this gene is known as variant allele A, while this is called variant allele D. See G54D (variant B) and G57E (variant C). | 1 |
| 7 | 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 |
| 8 | TNFRSF13B-C104R | Low | Uncertain | Uncertain pathogenic Dominant, Heterozygous | 0.00399703 | Hypothesized to cause common variable immunodeficiency (CVID) in a dominant manner, but observations lack statistical significance and the frequency of people having this variant (0.8%) is much higher than the prevalence of the disease (0.002%). If this variant is associated with increased risk, carriers of this variant must still have an extremely low chance of developing CVID. Other genetic factors may be necessary. | 1 |
| 9 | 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 |
| 10 | TLR5-R392X | Low | Uncertain | Uncertain pathogenic Complex/Other, Heterozygous | 0.0439673 | This variant is believed to impair the ability to generate an immune response to the flagella of the bacteria. It is weakly associated with an increased incidence of Legionnaires' Disease, p = 0.085, increased lifetime risk of disease ~0.88% (about twice average). The variant is also weakly associated with a reduced incidence of systemic lupus erythematosus, p = 0.165. | 1 |
| 11 | RNASEL-R462Q | Low | Uncertain | Uncertain pathogenic Complex/Other, Heterozygous | 0.278026 | Associated with increased risk of prostate cancer in individuals who already have a family history of prostate cancer, but studies have been unable to replicate this finding in sporadic (non-familial) prostate cancer cases. | 1 |
| 12 | 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 |
| 13 | HFE-H63D | Low | Uncertain | Uncertain pathogenic Recessive, Carrier (Heterozygous) | 0.109965 | There have been some hypotheses that this variant contributes to causing hereditary hemochromatosis, possibly as a compound heterozygote, but some others treat it as a polymorphism. Cys282Tyr is the classic causal variant and itself has very low penetrance. Mouse studies indicates this variant has a similar but weaker effect; if it has any effect at all its penetrance may be quite low and/or require modifier alleles. | 1 |
| 14 | 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 |
| 15 | ITPA-P32T | Low | Well-established | Well-established pharmacogenetic Recessive, Carrier (Heterozygous) | 0.0609779 | This variant is associated with inosine triphosphate pyrophosphohydrolase deficiency and may be associated with an adverse reaction to thiopurine drugs (which are used as immunosuppressants). Homozygotes have no detectable ITPase activity, individuals compound heterozygous with another less severe mutation also have severely reduced enzyme activity. | 1 |
| 16 | KCNE2-T8A | Low | Uncertain | Uncertain pharmacogenetic Dominant, Heterozygous | 0.0044618 | Found in about 1% of individuals, probably has no clinically significant effect. One group proposed that this variant may cause increased susceptibility to drug-induced arrhythmia, but this conclusion is not supported (and perhaps slightly contradicted) by their reported observations of the variant in clinical cases. | 1 |
| 17 | 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 |
| 18 | FUT2-W154X | Moderate | Well-established | Well-established protective Recessive, Homozygous | 0.490519 | This recessive protective variant confers resistance to norovirus (which causes stomach flu). 20% of Caucasians and Africans are homozygous for this variant and are "non-secretors": they do not express ABO blood type antigens in their saliva or mucosal surfaces. Most strains of norovirus bind to these antigens in the gut, and so this non-secretor status confers almost total resistantance to most types of norovirus. There are notable exceptions, some strains of norovirus bind a different target and are equally infectious for secretors and non-secretors. | 1 |
| 19 | 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 |
| 20 | KCNJ11-K23E | Low | Likely | Likely protective Unknown, Homozygous | 0.738148 | This variant is associated with decreased risk of type 2 diabetes. It is unclear whether this variant has additive effects, or acts in a dominant or recessive manner. Assuming diabetes has a lifetime risk of 36%, we estimate a decreased risk of around 1-2% per copy of this variant. | 1 |
| 21 | 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 |
| 22 | DTNBP1-P272S | Low | Uncertain | Uncertain protective Recessive, Carrier (Heterozygous) | 0.0351366 | Possibly a slight protective effect against colorectal cancer if homozygous. | 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 | 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 |
| 25 | COL7A1-P1277L | Low | Uncertain | Uncertain benign Unknown, Heterozygous | 0.0407139 | Polymorphism, presumed benign. | 1 |
| 26 | TPCN2-G734E | Low | Uncertain | Uncertain benign Unknown, Heterozygous | 0.286166 | Pigmentation allele. | 1 |
| 27 | WDR36-H212P | Low | Uncertain | Uncertain benign Unknown, Heterozygous | 0.000465809 | Probably benign. | 1 |
| 28 | DSP-R1537C | Low | Uncertain | Uncertain benign Unknown, Heterozygous | 0.0104109 | Probably benign / nonpathogenic. | 1 |
| 29 | AMPD1-P48L | Low | Uncertain | Uncertain benign Unknown, Heterozygous | 0.0940695 | Probably benign, ancestral to15173240 pathogenic Q12X mutation. | 1 |
| 30 | TAS2R38-I296V | Low | Uncertain | Uncertain benign Unknown, Heterozygous | 0.463376 | This variant is associated with "taster" status of PTC, along with 49P and 262A. Due to linkage disequilibrium, the independent effects of positions 296 and 262 is unclear. The presence of 49P confers taster status in a dominant fashion, but in the absence of 49P, the presence of 262A/296V is still positively associated with tasting PTC. | 1 |
| 31 | APOB-Y1422C | Low | Uncertain | Uncertain benign Unknown, Homozygous | 0.999628 | This position is almost certainly an error in the HG18 reference sequence. | 1 |
| 32 | PTCH1-P1315L | Low | Uncertain | Uncertain benign Unknown, Heterozygous | 0.29631 | Common polymorphism, presumed benign. | 1 |
| 33 | PCSK9-G670E | Low | Uncertain | Uncertain benign Unknown, Homozygous | 0.888269 | This variant is likely benign. | 1 |
| 34 | 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 |
| 35 | 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 |
| 36 | TAS2R38-A49P | Low | Uncertain | Uncertain benign Unknown, Heterozygous | 0.431121 | This variant is strongly associated with causing the "taster" phenotype of phenylthiocarbamine (PTC) in a dominant manner. | 1 |
| 37 | GUCY2D-A52S | Low | Uncertain | Uncertain benign Recessive, Carrier (Heterozygous) | 0.21016 | One publication suggested that this variant possibly causes Leber's congenital amaurosis in a recessive manner, but the frequency data (36% in 1000 genomes) contradicts any significant pathogenic effect. | 1 |
| 38 | FMO3-V257M | Low | Uncertain | Uncertain benign Unknown, Heterozygous | 0.0570738 | This common variant (HapMap allele frequency of 9.2%) appears to have no functional effect. OMIM has recorded it as having been seen homozygously in an individual with Trimethylaminuria, but Treacy et al. 1998 conclude it is a polymorphism. | 1 |
| Row number | Variant | Prioritization score | Allele freq | Num of articles | Zygosity and Prioritization Score Reasons | Sufficient |
|---|
Exome coverage: 32965769 / 33282720 = 99.05%
| Row number | Gene | Chromosome | Coverage | Missing | Length | Missing regions |
|---|---|---|---|---|---|---|
| 1 | AGRN | 1 | 0.96871945259042 | 192 | 6138 | 955553-955556, 955568, 955572, 955576-955584, 955587, 955592-955599, 955616-955620, 977056-977082, 981928, 981989, 983414, 983600-983713, 983720-983730, 983734-983741 |
| 2 | GABRD | 1 | 0.96688741721854 | 45 | 1359 | 1950863-1950900, 1950913, 1950917, 1950920-1950924 |
| 3 | ESPN | 1 | 0.90058479532164 | 255 | 2565 | 6488304, 6488322, 6488325, 6488333, 6488378-6488392, 6488426-6488432, 6500686-6500721, 6500737-6500791, 6500864-6500868, 6501097-6501103, 6505724-6505738, 6505779, 6505795, 6505817, 6505849-6505856, 6505888-6505920, 6508727-6508766, 6512127-6512133, 6517244-6517263 |
| 4 | PLEKHG5 | 1 | 0.99623706491063 | 12 | 3189 | 6534128-6534129, 6534132-6534133, 6534162, 6534171-6534173, 6534522, 6534531, 6534555, 6534583 |
| 5 | KIF1B | 1 | 0.99962356484096 | 2 | 5313 | 10425584-10425585 |
| 6 | TARDBP | 1 | 0.97831325301205 | 27 | 1245 | 11082254-11082273, 11082356-11082362 |
| 7 | CLCNKA | 1 | 0.98982558139535 | 21 | 2064 | 16354391-16354397, 16358268-16358274, 16360141-16360147 |
| 8 | CLCNKB | 1 | 0.99273255813953 | 15 | 2064 | 16373044-16373050, 16383398-16383405 |
| 9 | ATP13A2 | 1 | 0.9994355066328 | 2 | 3543 | 17322616-17322617 |
| 10 | HSPG2 | 1 | 0.99521857923497 | 63 | 13176 | 22263648-22263710 |
| 11 | WNT4 | 1 | 0.92708333333333 | 77 | 1056 | 22469339-22469415 |
| 12 | SEPN1 | 1 | 0.89028776978417 | 183 | 1668 | 26126722-26126904 |
| 13 | CLDN19 | 1 | 0.99407407407407 | 4 | 675 | 43203953-43203956 |
| 14 | ALG6 | 1 | 0.99934640522876 | 1 | 1530 | 63885058 |
| 15 | LEPR | 1 | 0.99942824471126 | 2 | 3498 | 66083722, 66083740 |
| 16 | GLMN | 1 | 0.99943977591036 | 1 | 1785 | 92732026 |
| 17 | ABCA4 | 1 | 0.9997068308414 | 2 | 6822 | 94528838-94528839 |
| 18 | DPYD | 1 | 0.98700454840806 | 40 | 3078 | 97847949-97847957, 97847976-97848004, 97848017, 98348914 |
| 19 | AGL | 1 | 0.9997825614264 | 1 | 4599 | 100336361 |
| 20 | COL11A1 | 1 | 0.97306212204508 | 147 | 5457 | 103364222-103364314, 103364322-103364329, 103364497-103364511, 103388943-103388945, 103427768, 103435776-103435785, 103435788, 103435792, 103435795-103435796, 103435817-103435828, 103548472 |
| 21 | GSTM1 | 1 | 0.5144596651446 | 319 | 657 | 110230496-110230531, 110230796-110230802, 110230810-110230812, 110230858, 110231302, 110231688-110231695, 110231710-110231751, 110231847-110231947, 110232893, 110232908-110232910, 110232925, 110232929, 110232931-110232932, 110232938, 110232940-110232946, 110232949-110232953, 110232968-110232973, 110232983-110232988, 110233076-110233098, 110233101, 110233104-110233111, 110233115-110233120, 110233122, 110233138, 110233155, 110233159-110233160, 110235874-110235917 |
| 22 | AMPD1 | 1 | 0.99955436720143 | 1 | 2244 | 115218608 |
| 23 | HMGCS2 | 1 | 0.9901768172888 | 15 | 1527 | 120301758-120301772 |
| 24 | NOTCH2 | 1 | 0.97788565264293 | 164 | 7416 | 120539665-120539714, 120539739-120539745, 120539778-120539784, 120539913-120539939, 120547962-120547968, 120548025, 120548051, 120548055, 120548091-120548097, 120572544-120572575, 120572609-120572610, 120611960, 120612000-120612020 |
| 25 | PRPF3 | 1 | 0.9990253411306 | 2 | 2052 | 150316967, 150316971 |
| 26 | FLG | 1 | 0.99868701788938 | 16 | 12186 | 152276487-152276493, 152278434, 152279406, 152281350-152281356 |
| 27 | CHRNB2 | 1 | 0.9973492379059 | 4 | 1509 | 154544372, 154544376-154544378 |
| 28 | GBA | 1 | 0.98830409356725 | 14 | 1197 | 155184413-155184419, 155187141-155187147 |
| 29 | GBA | 1 | 0.99565487274984 | 7 | 1611 | 155205040-155205046 |
| 30 | NTRK1 | 1 | 0.99665411961522 | 8 | 2391 | 156830739, 156830749, 156851290-156851291, 156851301-156851304 |
| 31 | TBX19 | 1 | 0.9992576095026 | 1 | 1347 | 168274320 |
| 32 | F5 | 1 | 0.99985018726592 | 1 | 6675 | 169510293 |
| 33 | DARS2 | 1 | 0.99948400412797 | 1 | 1938 | 173802577 |
| 34 | HMCN1 | 1 | 0.99994085639934 | 1 | 16908 | 185953319 |
| 35 | PDC | 1 | 0.97031039136302 | 22 | 741 | 186418549-186418570 |
| 36 | CFH | 1 | 0.98160173160173 | 68 | 3696 | 196658743, 196682895, 196706699-196706763, 196706790 |
| 37 | CFHR1 | 1 | 0.96173212487412 | 38 | 993 | 196797204, 196797213-196797247, 196801003-196801004 |
| 38 | CFHR5 | 1 | 0.97836257309942 | 37 | 1710 | 196953136, 196963278-196963282, 196967258-196967280, 196967334-196967337, 196967380-196967383 |
| 39 | ASPM | 1 | 0.99971247843588 | 3 | 10434 | 197055987, 197069678, 197069686 |
| 40 | CD46 | 1 | 0.99416666666667 | 7 | 1200 | 207930362-207930368 |
| 41 | USH2A | 1 | 0.99987186879364 | 2 | 15609 | 215916552, 215916575 |
| 42 | GJC2 | 1 | 0.97424242424242 | 34 | 1320 | 228345617, 228345698, 228346347-228346354, 228346376-228346378, 228346381, 228346411, 228346426, 228346436, 228346450-228346453, 228346592, 228346596-228346603, 228346606-228346609 |
| 43 | LYST | 1 | 0.99719445905664 | 32 | 11406 | 235875389, 235875401-235875405, 235875415-235875418, 235875464, 235875478-235875479, 235875482-235875485, 235944171-235944175, 235944232-235944238, 235950550, 235967955-235967956 |
| 44 | MTR | 1 | 0.99894681411269 | 4 | 3798 | 237038026, 237060942-237060944 |
| 45 | RYR2 | 1 | 0.99872517444981 | 19 | 14904 | 237656296, 237821244-237821254, 237881762-237881766, 237881777-237881778 |
| 46 | NET1 | 10 | 0.99385817978783 | 11 | 1791 | 5454701-5454711 |
| 47 | GATA3 | 10 | 0.99925093632959 | 1 | 1335 | 8100738 |
| 48 | DCLRE1C | 10 | 0.98893698893699 | 23 | 2079 | 14977563, 14981847-14981868 |
| 49 | CUBN | 10 | 0.99935614422369 | 7 | 10872 | 17142027, 17142031-17142032, 17142035-17142038 |
| 50 | PTF1A | 10 | 0.98074974670719 | 19 | 987 | 23481731-23481749 |
| 51 | MYO3A | 10 | 0.99732014017728 | 13 | 4851 | 26241097-26241107, 26385497-26385498 |
| 52 | RET | 10 | 0.99043348281016 | 32 | 3345 | 43572707-43572708, 43572712, 43572731-43572735, 43572738-43572744, 43572746-43572749, 43572754-43572761, 43572765, 43572771-43572774 |
| 53 | CHAT | 10 | 0.93012906097018 | 157 | 2247 | 50822262, 50822270-50822424, 50822435 |
| 54 | PCDH15 | 10 | 0.9969434538971 | 18 | 5889 | 55719501-55719514, 55826518, 55973731, 56128967, 56138674 |
| 55 | CDH23 | 10 | 0.99930389817025 | 7 | 10056 | 73537534-73537540 |
| 56 | BMPR1A | 10 | 0.99562226391495 | 7 | 1599 | 88683143-88683149 |
| 57 | PDE6C | 10 | 0.99922390376407 | 2 | 2577 | 95400677-95400678 |
| 58 | LGI1 | 10 | 0.99163679808841 | 14 | 1674 | 95518555-95518568 |
| 59 | FBXW4 | 10 | 0.97497982243745 | 31 | 1239 | 103454354-103454384 |
| 60 | HTRA1 | 10 | 0.97089397089397 | 42 | 1443 | 124221181-124221205, 124221208, 124221221, 124221251, 124221381-124221394 |
| 61 | ACADSB | 10 | 0.99846035411855 | 2 | 1299 | 124810701-124810702 |
| 62 | SLC25A22 | 11 | 0.99897119341564 | 1 | 972 | 792654 |
| 63 | CTSD | 11 | 0.99919289749798 | 1 | 1239 | 1785035 |
| 64 | H19 | 11 | 0.99813258636788 | 2 | 1071 | 2017756-2017757 |
| 65 | TH | 11 | 0.99936507936508 | 1 | 1575 | 2191941 |
| 66 | CDKN1C | 11 | 0.91903259726604 | 77 | 951 | 2905973, 2906087-2906112, 2906115, 2906155-2906162, 2906164-2906174, 2906187, 2906190, 2906193-2906208, 2906212-2906217, 2906222, 2906230, 2906236-2906238, 2906425 |
| 67 | USH1C | 11 | 0.99444444444444 | 15 | 2700 | 17531126, 17531173-17531185, 17531314 |
| 68 | ANO5 | 11 | 0.972647702407 | 75 | 2742 | 22276987-22276991, 22276999-22277068 |
| 69 | SLC35C1 | 11 | 0.99810606060606 | 2 | 1056 | 45827804-45827805 |
| 70 | ROM1 | 11 | 0.99337121212121 | 7 | 1056 | 62381337-62381343 |
| 71 | SLC22A12 | 11 | 0.99939831528279 | 1 | 1662 | 64367184 |
| 72 | TCIRG1 | 11 | 0.99518652226233 | 12 | 2493 | 67810281-67810286, 67810297-67810302 |
| 73 | LRP5 | 11 | 0.99876237623762 | 6 | 4848 | 68080215-68080220 |
| 74 | DHCR7 | 11 | 0.99859943977591 | 2 | 1428 | 71146577, 71146580 |
| 75 | MYO7A | 11 | 0.9998495788207 | 1 | 6648 | 76922295 |
| 76 | TMEM126A | 11 | 0.99829931972789 | 1 | 588 | 85361334 |
| 77 | TYR | 11 | 0.99559748427673 | 7 | 1590 | 89018058-89018064 |
| 78 | DYNC2H1 | 11 | 0.98524526844341 | 191 | 12945 | 103018612-103018616, 103029406-103029409, 103029639-103029657, 103031734-103031738, 103036733, 103040993-103041004, 103043811-103043849, 103043930-103043932, 103044021, 103059226-103059252, 103062255-103062258, 103062261-103062287, 103062290, 103062324, 103062333-103062335, 103062894, 103062988-103062993, 103070175-103070177, 103082529-103082542, 103128441, 103128444-103128447, 103128451-103128453, 103130617, 103130628-103130632, 103130642 |
| 79 | ATM | 11 | 0.99160396903282 | 77 | 9171 | 108126979, 108126993-108126996, 108127004-108127067, 108153447, 108196147-108196153 |
| 80 | RDX | 11 | 0.99942922374429 | 1 | 1752 | 110108310 |
| 81 | DLAT | 11 | 0.99537037037037 | 9 | 1944 | 111909974-111909981, 111909998 |
| 82 | ROBO3 | 11 | 0.99903869262197 | 4 | 4161 | 124747473-124747474, 124748635-124748636 |
| 83 | KCNJ1 | 11 | 0.99914965986395 | 1 | 1176 | 128709303 |
| 84 | CACNA1C | 12 | 0.99893308946807 | 7 | 6561 | 2794934-2794940 |
| 85 | VWF | 12 | 0.98827292110874 | 99 | 8442 | 6131925-6131932, 6131955-6131997, 6132003-6132033, 6135113-6135129 |
| 86 | ATN1 | 12 | 0.98180800447803 | 65 | 3573 | 7045600-7045608, 7045888-7045942, 7050631 |
| 87 | GYS2 | 12 | 0.99763257575758 | 5 | 2112 | 21712043, 21712050-21712053 |
| 88 | ABCC9 | 12 | 0.99247311827957 | 35 | 4650 | 21962867-21962889, 22061086, 22063815-22063819, 22063829-22063834 |
| 89 | DNM1L | 12 | 0.99909543193125 | 2 | 2211 | 32860314, 32860317 |
| 90 | KIF21A | 12 | 0.99739269955876 | 13 | 4986 | 39688242-39688254 |
| 91 | LRRK2 | 12 | 0.98800105485232 | 91 | 7584 | 40645050, 40688693, 40692919-40692920, 40692934, 40707838, 40761446-40761462, 40761472-40761539 |
| 92 | IRAK4 | 12 | 0.99855386840202 | 2 | 1383 | 44166760, 44180212 |
| 93 | VDR | 12 | 0.99299065420561 | 9 | 1284 | 48251300-48251308 |
| 94 | MLL2 | 12 | 0.99741182135548 | 43 | 16614 | 49426730-49426732, 49426898, 49426924-49426930, 49426933, 49427665-49427667, 49427675-49427676, 49431302-49431323, 49431541, 49434292-49434294 |
| 95 | TUBA1A | 12 | 0.96271929824561 | 17 | 456 | 49522195-49522211 |
| 96 | KRT81 | 12 | 0.99341238471673 | 10 | 1518 | 52684020-52684029 |
| 97 | KRT86 | 12 | 0.98357289527721 | 24 | 1461 | 52696925-52696934, 52699030-52699036, 52699545-52699551 |
| 98 | KRT83 | 12 | 0.99865047233468 | 2 | 1482 | 52710279, 52710309 |
| 99 | KRT6B | 12 | 0.95752212389381 | 72 | 1695 | 52843632-52843637, 52845365-52845371, 52845397-52845438, 52845571-52845578, 52845797-52845805 |
| 100 | KRT6C | 12 | 0.91681415929204 | 141 | 1695 | 52865295-52865300, 52867024-52867069, 52867091-52867129, 52867230-52867236, 52867372-52867378, 52867457-52867492 |
| 101 | KRT6A | 12 | 0.98643067846608 | 23 | 1695 | 52884732-52884737, 52886490, 52886681-52886687, 52886907-52886915 |
| 102 | KRT5 | 12 | 0.99943598420756 | 1 | 1773 | 52908892 |
| 103 | KRT1 | 12 | 0.99431524547804 | 11 | 1935 | 53072483, 53072510-53072519 |
| 104 | SUOX | 12 | 0.98962148962149 | 17 | 1638 | 56398164-56398180 |
| 105 | LEMD3 | 12 | 0.99744152046784 | 7 | 2736 | 65612332-65612333, 65612338, 65612358, 65612362, 65612386, 65612389 |
| 106 | CEP290 | 12 | 0.98629032258065 | 102 | 7440 | 88443087, 88462333-88462382, 88472962, 88476818-88476820, 88481627, 88481675, 88481696, 88496649, 88505482-88505484, 88505592, 88505595, 88505606-88505610, 88505634-88505635, 88513992, 88513997, 88514004-88514005, 88514024, 88514028, 88519023-88519035, 88519145-88519146, 88522723, 88522759, 88522778, 88522786, 88523475-88523476, 88532965-88532967, 88534768 |
| 107 | SYCP3 | 12 | 0.9873417721519 | 9 | 711 | 102125346-102125354 |
| 108 | ATXN2 | 12 | 0.98503297818366 | 59 | 3942 | 112036743-112036749, 112036752, 112036754-112036757, 112036789, 112036792-112036797, 112036800, 112036806-112036811, 112036826, 112036912-112036915, 112036938-112036941, 112036952, 112036969, 112036982-112036983, 112036997-112037000, 112037013-112037014, 112037040-112037053 |
| 109 | TBX5 | 12 | 0.98843930635838 | 18 | 1557 | 114793620-114793637 |
| 110 | ATP6V0A2 | 12 | 0.99961104628549 | 1 | 2571 | 124203188 |
| 111 | BRCA2 | 13 | 0.99990250560593 | 1 | 10257 | 32918741 |
| 112 | RB1 | 13 | 0.99497667743093 | 14 | 2787 | 48934153, 48941706, 48941721, 48947572, 48947587, 48947595, 49027145-49027152 |
| 113 | EDNRB | 13 | 0.99924755455229 | 1 | 1329 | 78475277 |
| 114 | ZIC2 | 13 | 0.93746091307067 | 100 | 1599 | 100634394, 100635008-100635010, 100637714, 100637805, 100637829-100637858, 100637861-100637865, 100637870-100637877, 100637884-100637934 |
| 115 | ERCC5 | 13 | 0.9997640953055 | 1 | 4239 | 103468817 |
| 116 | PABPN1 | 14 | 0.89359391965255 | 98 | 921 | 23790783-23790784, 23790894-23790935, 23790948-23791001 |
| 117 | MYH7 | 14 | 0.99982782369146 | 1 | 5808 | 23897789 |
| 118 | PCK2 | 14 | 0.99895995839834 | 2 | 1923 | 24568258-24568259 |
| 119 | FOXG1 | 14 | 0.80272108843537 | 290 | 1470 | 29236575, 29236659-29236947 |
| 120 | NKX2-1 | 14 | 0.99170812603648 | 10 | 1206 | 36988361, 36988372, 36988376-36988383 |
| 121 | FANCM | 14 | 0.99690906133073 | 19 | 6147 | 45623949, 45624020-45624022, 45628419-45628425, 45650644, 45653032, 45653037, 45653044-45653047, 45667847 |
| 122 | SYNE2 | 14 | 0.99995174676703 | 1 | 20724 | 64450544 |
| 123 | ZFYVE26 | 14 | 0.9998687664042 | 1 | 7620 | 68244319 |
| 124 | ESRRB | 14 | 0.99738048461035 | 4 | 1527 | 76964701-76964704 |
| 125 | GALC | 14 | 0.99951409135083 | 1 | 2058 | 88448567 |
| 126 | SPATA7 | 14 | 0.99833333333333 | 3 | 1800 | 88904283-88904285 |
| 127 | TTC8 | 14 | 0.98966408268734 | 16 | 1548 | 89307787, 89341422-89341435, 89343718 |
| 128 | ATXN3 | 14 | 0.99079189686924 | 10 | 1086 | 92559646, 92559654-92559662 |
| 129 | VRK1 | 14 | 0.97061293031066 | 35 | 1191 | 97304103-97304137 |
| 130 | INF2 | 14 | 0.92666666666667 | 275 | 3750 | 105169643, 105173765-105173768, 105173771, 105173859-105174124, 105174143, 105174153, 105174157 |
| 131 | NIPA1 | 15 | 0.82020202020202 | 178 | 990 | 23086234-23086411 |
| 132 | SPRED1 | 15 | 0.987265917603 | 17 | 1335 | 38614480-38614482, 38616973-38616986 |
| 133 | CHST14 | 15 | 0.97435897435897 | 29 | 1131 | 40763426, 40763479-40763506 |
| 134 | CDAN1 | 15 | 0.99538545059718 | 17 | 3684 | 43017763-43017779 |
| 135 | TTBK2 | 15 | 0.99812583668005 | 7 | 3735 | 43103888-43103891, 43103941, 43120136, 43120190 |
| 136 | STRC | 15 | 0.98423423423423 | 84 | 5328 | 43892272, 43906240-43906251, 43906435-43906454, 43910863-43910913 |
| 137 | DUOX2 | 15 | 0.99956961480525 | 2 | 4647 | 45398354-45398355 |
| 138 | SLC12A1 | 15 | 0.99484848484848 | 17 | 3300 | 48577377, 48577381-48577396 |
| 139 | CEP152 | 15 | 0.99979859013092 | 1 | 4965 | 49073556 |
| 140 | MAP2K1 | 15 | 0.98307952622673 | 20 | 1182 | 66727446-66727465 |
| 141 | HCN4 | 15 | 0.99861572535991 | 5 | 3612 | 73659861-73659863, 73660089, 73660368 |
| 142 | POLG | 15 | 0.99838709677419 | 6 | 3720 | 89876828-89876833 |
| 143 | MESP2 | 15 | 0.97738693467337 | 27 | 1194 | 90320121-90320146, 90320161 |
| 144 | BLM | 15 | 0.9974141984015 | 11 | 4254 | 91337472-91337474, 91337487-91337493, 91337587 |
| 145 | VPS33B | 15 | 0.99137001078749 | 16 | 1854 | 91542213-91542228 |
| 146 | HBZ | 16 | 0.97435897435897 | 11 | 429 | 203948-203958 |
| 147 | CLCN7 | 16 | 0.99503722084367 | 12 | 2418 | 1524903-1524914 |
| 148 | GFER | 16 | 0.94174757281553 | 36 | 618 | 2034335-2034370 |
| 149 | PKD1 | 16 | 0.92828376703841 | 926 | 12912 | 2141127, 2141130, 2147192, 2147195-2147196, 2149669-2149675, 2149876, 2150067, 2150397, 2150443-2150484, 2150497-2150521, 2152249-2152257, 2152922-2152928, 2153499-2153505, 2153711-2153741, 2153764-2153796, 2153820-2153854, 2154570-2154576, 2155423-2155429, 2155875-2155881, 2155981-2155987, 2156018-2156025, 2156092-2156106, 2156136-2156142, 2156175-2156198, 2156427-2156462, 2156520-2156547, 2156656-2156678, 2156846-2156870, 2156899-2156941, 2157926-2157932, 2158709-2158715, 2159311-2159344, 2159403-2159409, 2159577-2159584, 2159808-2159843, 2159960-2159999, 2160718-2160734, 2160769-2160775, 2161153, 2161790-2161799, 2162884-2162922, 2164172-2164179, 2164490, 2164805-2164812, 2165486-2165496, 2166067-2166073, 2166835-2166857, 2166976-2167001, 2167624-2167638, 2167829-2167878, 2167969-2168008, 2168069-2168075, 2168132-2168170, 2168231-2168237, 2185617, 2185662-2185690 |
| 150 | ABCA3 | 16 | 0.99902248289345 | 5 | 5115 | 2367711, 2367714-2367717 |
| 151 | CREBBP | 16 | 0.99904489016237 | 7 | 7329 | 3778436, 3778439, 3778452, 3778455-3778458 |
| 152 | ALG1 | 16 | 0.91971326164875 | 112 | 1395 | 5128827-5128829, 5128838-5128839, 5130949-5130976, 5130993-5130999, 5131016-5131052, 5132573-5132606, 5132636 |
| 153 | ABCC6 | 16 | 0.99290780141844 | 32 | 4512 | 16315576-16315597, 16315643-16315652 |
| 154 | CLN3 | 16 | 0.99696279422931 | 4 | 1317 | 28497675, 28497686, 28497689-28497690 |
| 155 | PHKG2 | 16 | 0.95085995085995 | 60 | 1221 | 30760142-30760154, 30760178, 30760191-30760236 |
| 156 | FUS | 16 | 0.99810246679317 | 3 | 1581 | 31195312-31195313, 31195317 |
| 157 | CYLD | 16 | 0.99895178197065 | 3 | 2862 | 50825505-50825506, 50825509 |
| 158 | SALL1 | 16 | 0.99974842767296 | 1 | 3975 | 51175667 |
| 159 | RPGRIP1L | 16 | 0.99594731509625 | 16 | 3948 | 53672223-53672228, 53672247-53672248, 53672255-53672261, 53672313 |
| 160 | HSD11B2 | 16 | 0.97947454844007 | 25 | 1218 | 67465247, 67465250, 67465253-67465257, 67465282-67465286, 67469984, 67469998, 67470200-67470202, 67470523, 67470529-67470535 |
| 161 | LCAT | 16 | 0.99848828420257 | 2 | 1323 | 67973978-67973979 |
| 162 | HP | 16 | 0.98116298116298 | 23 | 1221 | 72093014-72093036 |
| 163 | MLYCD | 16 | 0.97368421052632 | 39 | 1482 | 83932806, 83932829, 83932833, 83932852, 83932880-83932889, 83932988, 83932991-83932993, 83933006-83933009, 83933012, 83933189-83933204 |
| 164 | SPG7 | 16 | 0.99623115577889 | 9 | 2388 | 89579415-89579423 |
| 165 | FANCA | 16 | 0.99473443223443 | 23 | 4368 | 89842206-89842214, 89880994-89881007 |
| 166 | TUBB3 | 16 | 0.99556541019956 | 6 | 1353 | 90002091-90002096 |
| 167 | PITPNM3 | 17 | 0.99863247863248 | 4 | 2925 | 6358796-6358799 |
| 168 | ELAC2 | 17 | 0.99637243047158 | 9 | 2481 | 12896189-12896197 |
| 169 | COX10 | 17 | 0.99474474474474 | 7 | 1332 | 14095345-14095351 |
| 170 | RAI1 | 17 | 0.99423177766125 | 33 | 5721 | 17697094-17697102, 17697104-17697114, 17697123-17697128, 17699154-17699160 |
| 171 | MYO15A | 17 | 0.99990559803644 | 1 | 10593 | 18057102 |
| 172 | NF1 | 17 | 0.9887323943662 | 96 | 8520 | 29422381-29422385, 29483001-29483017, 29556202-29556236, 29559091, 29586057, 29586091, 29586094, 29652992-29653004, 29664875-29664896 |
| 173 | KRT10 | 17 | 0.98689458689459 | 23 | 1755 | 38975228-38975249, 38975328 |
| 174 | KRT14 | 17 | 0.95489781536293 | 64 | 1419 | 39738749-39738755, 39741304-39741309, 39742829-39742872, 39743030-39743036 |
| 175 | KRT16 | 17 | 0.89732770745429 | 146 | 1422 | 39766240-39766281, 39767642-39767648, 39768412-39768418, 39768490-39768496, 39768527-39768570, 39768658-39768664, 39768740-39768771 |
| 176 | KRT17 | 17 | 0.97844495765974 | 28 | 1299 | 39780465-39780471, 39780555-39780571, 39780654-39780657 |
| 177 | STAT5B | 17 | 0.99280879864636 | 17 | 2364 | 40371359, 40371368-40371380, 40371386-40371387, 40371394 |
| 178 | PLEKHM1 | 17 | 0.99779249448124 | 7 | 3171 | 43531099-43531105 |
| 179 | MAPT | 17 | 0.999570999571 | 1 | 2331 | 44073816 |
| 180 | SGCA | 17 | 0.99914089347079 | 1 | 1164 | 48247704 |
| 181 | BRIP1 | 17 | 0.99946666666667 | 2 | 3750 | 59793418-59793419 |
| 182 | ACE | 17 | 0.99974496301964 | 1 | 3921 | 61554582 |
| 183 | POLG2 | 17 | 0.99931412894376 | 1 | 1458 | 62476489 |
| 184 | AXIN2 | 17 | 0.98894154818325 | 28 | 2532 | 63533729-63533755, 63545639 |
| 185 | SEPT9 | 17 | 0.92277115275412 | 136 | 1761 | 75494605-75494740 |
| 186 | DSC3 | 18 | 0.99962839093274 | 1 | 2691 | 28581698 |
| 187 | DSC2 | 18 | 0.99963045084996 | 1 | 2706 | 28659843 |
| 188 | DSG2 | 18 | 0.99970211498362 | 1 | 3357 | 29078226 |
| 189 | MYO5B | 18 | 0.99332972778078 | 37 | 5547 | 47352944-47352980 |
| 190 | SMAD4 | 18 | 0.9957805907173 | 7 | 1659 | 48593465-48593471 |
| 191 | ATP8B1 | 18 | 0.99946751863685 | 2 | 3756 | 55398955-55398956 |
| 192 | TNFRSF11A | 18 | 0.98271204754187 | 32 | 1851 | 59992586-59992617 |
| 193 | ELANE | 19 | 0.8818407960199 | 95 | 804 | 853262-853356 |
| 194 | MAP2K2 | 19 | 0.92352452202826 | 92 | 1203 | 4123781-4123872 |
| 195 | C3 | 19 | 0.99819711538462 | 9 | 4992 | 6707101-6707104, 6707120, 6707123, 6707126-6707128 |
| 196 | STXBP2 | 19 | 0.99326599326599 | 12 | 1782 | 7702043-7702054 |
| 197 | PRKCSH | 19 | 0.99810964083176 | 3 | 1587 | 11558341-11558343 |
| 198 | MAN2B1 | 19 | 0.99571805006588 | 13 | 3036 | 12769279-12769291 |
| 199 | CACNA1A | 19 | 0.99388379204893 | 46 | 7521 | 13318559-13318561, 13318672-13318700, 13318799, 13318803, 13318859-13318867, 13319692-13319694 |
| 200 | NOTCH3 | 19 | 0.99339649727247 | 46 | 6966 | 15271898-15271899, 15271907, 15281324, 15281350-15281358, 15311619-15311621, 15311645-15311652, 15311656, 15311673-15311674, 15311676-15311685, 15311691-15311693, 15311696-15311701 |
| 201 | CEBPA | 19 | 0.98514391829155 | 16 | 1077 | 33792767, 33793008-33793010, 33793019-33793022, 33793036-33793037, 33793203-33793207, 33793212 |
| 202 | SCN1B | 19 | 0.95043370508055 | 40 | 807 | 35521725-35521764 |
| 203 | NPHS1 | 19 | 0.99812130971551 | 7 | 3726 | 36336614-36336620 |
| 204 | SDHAF1 | 19 | 0.97701149425287 | 8 | 348 | 36486179-36486186 |
| 205 | RYR1 | 19 | 0.99940464377853 | 9 | 15117 | 38931409, 38980032-38980033, 38980036, 38980905-38980906, 38987500, 38987506, 39055769 |
| 206 | PRX | 19 | 0.98426812585499 | 69 | 4386 | 40901320-40901328, 40909700-40909738, 40909749-40909769 |
| 207 | DMPK | 19 | 0.9952380952381 | 9 | 1890 | 46285561-46285569 |
| 208 | DBP | 19 | 0.9959100204499 | 4 | 978 | 49138842-49138843, 49138847, 49138850 |
| 209 | MED25 | 19 | 0.99955436720143 | 1 | 2244 | 50339526 |
| 210 | KCNC3 | 19 | 0.88082673702726 | 271 | 2274 | 50823503-50823586, 50826307-50826310, 50831953-50831978, 50832171, 50832184-50832339 |
| 211 | NLRP12 | 19 | 0.99309478970496 | 22 | 3186 | 54313197-54313201, 54313618-54313634 |
| 212 | PRKCG | 19 | 0.99283667621777 | 15 | 2094 | 54393140, 54393143, 54393157-54393158, 54393198-54393202, 54393251, 54410083-54410087 |
| 213 | PRPF31 | 19 | 0.99933333333333 | 1 | 1500 | 54621733 |
| 214 | APOB | 2 | 0.99890446976337 | 15 | 13692 | 21266769-21266783 |
| 215 | OTOF | 2 | 0.99432766099433 | 34 | 5994 | 26699775-26699782, 26699788, 26699796-26699805, 26699808-26699816, 26699820-26699821, 26699825-26699828 |
| 216 | ALK | 2 | 0.99568167797656 | 21 | 4863 | 29451750-29451763, 29451769, 29451782-29451784, 29462546, 29462555-29462556 |
| 217 | SPAST | 2 | 0.92274446245273 | 143 | 1851 | 32289112-32289126, 32289134-32289243, 32312561-32312563, 32312576, 32323925-32323932, 32341188, 32341198-32341202 |
| 218 | SOS1 | 2 | 0.99875062468766 | 5 | 4002 | 39281922-39281926 |
| 219 | MSH6 | 2 | 0.99975508204751 | 1 | 4083 | 48032757 |
| 220 | FSHR | 2 | 0.99904214559387 | 2 | 2088 | 49190135-49190136 |
| 221 | NRXN1 | 2 | 0.99954802259887 | 2 | 4425 | 50765569-50765570 |
| 222 | ALMS1 | 2 | 0.99920025591811 | 10 | 12504 | 73613032-73613041 |
| 223 | DCTN1 | 2 | 0.9981756580662 | 7 | 3837 | 74592662-74592668 |
| 224 | GGCX | 2 | 0.99780412823891 | 5 | 2277 | 85778707-85778708, 85781411-85781413 |
| 225 | EIF2AK3 | 2 | 0.99970158161743 | 1 | 3351 | 88887563 |
| 226 | TMEM127 | 2 | 0.9860529986053 | 10 | 717 | 96931086-96931089, 96931108, 96931112-96931116 |
| 227 | RANBP2 | 2 | 0.91090439276486 | 862 | 9675 | 109345588-109345589, 109347230-109347237, 109347268-109347274, 109351988-109352019, 109352040-109352055, 109352099-109352105, 109357110-109357116, 109363189-109363203, 109365544-109365573, 109367751-109367762, 109367841-109367874, 109368046-109368080, 109368104-109368110, 109368327-109368342, 109368437, 109368449, 109369942-109369969, 109370283-109370312, 109370344-109370363, 109370369-109370401, 109371396-109371424, 109371495-109371512, 109371656-109371684, 109374869-109374872, 109374901-109374918, 109374949-109374955, 109378557, 109382748-109382754, 109382840-109382846, 109382937-109382946, 109382986-109383006, 109383107-109383148, 109383203-109383225, 109383262-109383289, 109383315-109383340, 109383354-109383360, 109383635-109383669, 109383768-109383798, 109383822-109383828, 109383885-109383891, 109384003-109384013, 109384130-109384170, 109384257-109384302, 109384561-109384567, 109384597-109384634, 109388157-109388177 |
| 228 | NPHP1 | 2 | 0.99901671583088 | 2 | 2034 | 110917704-110917705 |
| 229 | GLI2 | 2 | 0.99936988027725 | 3 | 4761 | 121729619-121729621 |
| 230 | NEB | 2 | 0.99869830780014 | 26 | 19974 | 152421560-152421566, 152432714, 152432767-152432771, 152432783-152432785, 152432817, 152511861, 152553209-152553216 |
| 231 | SCN2A | 2 | 0.99002991026919 | 60 | 6018 | 166170601, 166170608-166170612, 166172079-166172128, 166221769, 166221772, 166234144, 166245230 |
| 232 | GALNT3 | 2 | 0.99789695057834 | 4 | 1902 | 166621499-166621502 |
| 233 | SCN1A | 2 | 0.99849924962481 | 9 | 5997 | 166848838-166848844, 166895933-166895934 |
| 234 | SCN9A | 2 | 0.99629255139872 | 22 | 5934 | 167060962, 167060972-167060974, 167083203, 167084201-167084216, 167089964 |
| 235 | AGPS | 2 | 0.96206373292868 | 75 | 1977 | 178333243-178333252, 178346800-178346818, 178346822-178346828, 178346839-178346840, 178346848-178346884 |
| 236 | TTN | 2 | 0.99951121219376 | 49 | 100248 | 179394727-179394740, 179514894, 179523774-179523780, 179559388-179559403, 179598172, 179665134-179665143 |
| 237 | COL3A1 | 2 | 0.99704612588048 | 13 | 4401 | 189850454, 189854127, 189854133-189854136, 189854164-189854168, 189854175, 189871675 |
| 238 | PMS1 | 2 | 0.99749910682387 | 7 | 2799 | 190718675-190718679, 190718807-190718808 |
| 239 | ALS2 | 2 | 0.99859268194612 | 7 | 4974 | 202626273-202626279 |
| 240 | ACADL | 2 | 0.99922660479505 | 1 | 1293 | 211053773 |
| 241 | ABCA12 | 2 | 0.9942218798151 | 45 | 7788 | 215809776-215809820 |
| 242 | DES | 2 | 0.9929228591649 | 10 | 1413 | 220283706-220283715 |
| 243 | OBSL1 | 2 | 0.9992971358285 | 4 | 5691 | 220435637, 220435668, 220435689, 220435954 |
| 244 | UGT1A1 | 2 | 0.99750312109863 | 4 | 1602 | 234668951-234668954 |
| 245 | COL6A3 | 2 | 0.99979022445983 | 2 | 9534 | 238247672, 238249095 |
| 246 | D2HGDH | 2 | 0.98850574712644 | 18 | 1566 | 242707202-242707209, 242707267-242707274, 242707337, 242707342 |
| 247 | C20orf54 | 20 | 0.99787234042553 | 3 | 1410 | 744355-744357 |
| 248 | AVP | 20 | 0.96565656565657 | 17 | 495 | 3063381, 3063386-3063390, 3063400-3063403, 3063644, 3063653-3063655, 3063666, 3063669, 3063787 |
| 249 | C20orf7 | 20 | 0.97591522157996 | 25 | 1038 | 13782132-13782136, 13782219-13782238 |
| 250 | SNTA1 | 20 | 0.98155467720685 | 28 | 1518 | 32031385-32031412 |
| 251 | GDF5 | 20 | 0.99800796812749 | 3 | 1506 | 34025110-34025112 |
| 252 | DPM1 | 20 | 0.99872286079183 | 1 | 783 | 49552768 |
| 253 | GNAS | 20 | 0.99389852280026 | 19 | 3114 | 57430108-57430126 |
| 254 | SOX18 | 20 | 0.6969696969697 | 350 | 1155 | 62680512-62680726, 62680735-62680869 |
| 255 | APP | 21 | 0.99654128837008 | 8 | 2313 | 27348322-27348329 |
| 256 | IFNGR2 | 21 | 0.96646942800789 | 34 | 1014 | 34775850-34775858, 34775875, 34775879-34775885, 34775888, 34775896-34775903, 34775908-34775911, 34775914-34775917 |
| 257 | AIRE | 21 | 0.995115995116 | 8 | 1638 | 45710996-45710998, 45711004-45711008 |
| 258 | ITGB2 | 21 | 0.9995670995671 | 1 | 2310 | 46308628 |
| 259 | COL6A1 | 21 | 0.99222546161322 | 24 | 3087 | 47410172-47410195 |
| 260 | FTCD | 21 | 0.99815498154982 | 3 | 1626 | 47565768, 47565771-47565772 |
| 261 | PCNT | 21 | 0.99580461492358 | 42 | 10011 | 47754446-47754452, 47754611-47754617, 47832898-47832904, 47851840-47851860 |
| 262 | GP1BB | 22 | 0.98872785829308 | 7 | 621 | 19711461-19711465, 19711469, 19711473 |
| 263 | TBX1 | 22 | 0.89583333333333 | 155 | 1488 | 19748428-19748582 |
| 264 | CHEK2 | 22 | 0.91311754684838 | 153 | 1761 | 29083906-29083917, 29083946-29083965, 29085137-29085175, 29090086-29090092, 29091139-29091160, 29091173-29091203, 29091778-29091791, 29091837-29091844 |
| 265 | NF2 | 22 | 0.99832214765101 | 3 | 1788 | 30074305-30074306, 30074312 |
| 266 | TRIOBP | 22 | 0.96294730910116 | 263 | 7098 | 38119744-38119745, 38119749-38119757, 38119763, 38119766-38119767, 38119771, 38119798-38119804, 38119856-38119862, 38119879-38119921, 38119976-38120009, 38120030-38120068, 38120176-38120178, 38120196, 38120320-38120362, 38120394-38120450, 38120480-38120486, 38120704-38120710 |
| 267 | PLA2G6 | 22 | 0.99958694754234 | 1 | 2421 | 38531023 |
| 268 | EP300 | 22 | 0.99986197377502 | 1 | 7245 | 41573446 |
| 269 | TNFRSF13C | 22 | 0.93333333333333 | 37 | 555 | 42322243-42322278, 42322305 |
| 270 | CYB5R3 | 22 | 0.97682119205298 | 21 | 906 | 43045301-43045321 |
| 271 | ATXN10 | 22 | 0.99509803921569 | 7 | 1428 | 46114338-46114344 |
| 272 | TRMU | 22 | 0.9913112164297 | 11 | 1266 | 46751341-46751351 |
| 273 | MLC1 | 22 | 0.9973544973545 | 3 | 1134 | 50502593-50502595 |
| 274 | TYMP | 22 | 0.98619737750173 | 20 | 1449 | 50964287-50964290, 50964483-50964493, 50964504-50964505, 50964513-50964514, 50964535 |
| 275 | SHANK3 | 22 | 0.88920671243326 | 581 | 5244 | 51113070-51113132, 51135963-51136143, 51158757-51158806, 51158818-51158870, 51158888-51158935, 51158968-51158971, 51158983-51158988, 51159000-51159004, 51159024-51159037, 51169184-51169197, 51169201-51169212, 51169215, 51169288-51169325, 51169537-51169577, 51169595-51169640, 51169678-51169681, 51169695 |
| 276 | FANCD2 | 3 | 0.97848731884058 | 95 | 4416 | 10085168-10085170, 10088264-10088311, 10088340-10088346, 10089720-10089735, 10106473-10106479, 10114941-10114947, 10115015-10115021 |
| 277 | RAF1 | 3 | 0.99794555726759 | 4 | 1947 | 12660116-12660119 |
| 278 | CRTAP | 3 | 0.99253731343284 | 9 | 1206 | 33155583-33155590, 33155595 |
| 279 | TMIE | 3 | 0.99363057324841 | 3 | 471 | 46751074-46751076 |
| 280 | COL7A1 | 3 | 0.99909451046972 | 8 | 8835 | 48621379, 48627049, 48627068-48627071, 48627074-48627075 |
| 281 | RFT1 | 3 | 0.99876998769988 | 2 | 1626 | 53156415, 53156424 |
| 282 | ATXN7 | 3 | 0.90944326990839 | 257 | 2838 | 63898275-63898329, 63898354-63898400, 63898415, 63898442-63898595 |
| 283 | GBE1 | 3 | 0.9701280227596 | 63 | 2109 | 81754685, 81754690-81754699, 81754704-81754755 |
| 284 | ARL6 | 3 | 0.93582887700535 | 36 | 561 | 97503799-97503834 |
| 285 | UMPS | 3 | 0.997920997921 | 3 | 1443 | 124454091-124454093 |
| 286 | NPHP3 | 3 | 0.96293513648886 | 148 | 3993 | 132409380-132409381, 132438549-132438674, 132441063-132441081, 132441096 |
| 287 | FOXL2 | 3 | 0.99115826702034 | 10 | 1131 | 138664728, 138664731, 138664864, 138664872-138664877, 138664883 |
| 288 | PLOD2 | 3 | 0.98375054896794 | 37 | 2277 | 145791085, 145791093-145791094, 145804575-145804577, 145804592, 145804644, 145804667-145804695 |
| 289 | GFM1 | 3 | 0.99379432624113 | 14 | 2256 | 158370003-158370016 |
| 290 | IFT80 | 3 | 0.99828178694158 | 4 | 2328 | 160018677-160018679, 160075277 |
| 291 | ALG3 | 3 | 0.99924069855733 | 1 | 1317 | 183962989 |
| 292 | OPA1 | 3 | 0.999343832021 | 2 | 3048 | 193355068-193355069 |
| 293 | IDUA | 4 | 0.99949031600408 | 1 | 1962 | 980896 |
| 294 | HTT | 4 | 0.99565171280093 | 41 | 9429 | 3076628-3076657, 3076661, 3076665-3076670, 3201580-3201582, 3241622 |
| 295 | DOK7 | 4 | 0.97029702970297 | 45 | 1515 | 3465233-3465277 |
| 296 | EVC | 4 | 0.99462907015777 | 16 | 2979 | 5754629-5754644 |
| 297 | PROM1 | 4 | 0.99923017705928 | 2 | 2598 | 16040623-16040624 |
| 298 | CNGA1 | 4 | 0.98815789473684 | 27 | 2280 | 47954602-47954605, 47954616-47954617, 47954654, 47954678-47954679, 47972969-47972986 |
| 299 | KIT | 4 | 0.99965881951552 | 1 | 2931 | 55599303 |
| 300 | ALB | 4 | 0.99726775956284 | 5 | 1830 | 74272404-74272408 |
| 301 | PKD2 | 4 | 0.99449604403165 | 16 | 2907 | 88928937-88928942, 88928948-88928957 |
| 302 | SNCA | 4 | 0.94562647754137 | 23 | 423 | 90749295-90749313, 90749334-90749335, 90756702-90756703 |
| 303 | MANBA | 4 | 0.99924242424242 | 2 | 2640 | 103645123-103645124 |
| 304 | CISD2 | 4 | 0.91176470588235 | 36 | 408 | 103808506-103808522, 103808569-103808587 |
| 305 | BBS7 | 4 | 0.97067039106145 | 63 | 2148 | 122775884-122775896, 122775938-122775975, 122782710-122782713, 122782750-122782757 |
| 306 | MFSD8 | 4 | 0.99036608863198 | 15 | 1557 | 128851970, 128859993, 128861033-128861045 |
| 307 | GLRB | 4 | 0.98929049531459 | 16 | 1494 | 158041711-158041715, 158041726-158041730, 158041737-158041741, 158060045 |
| 308 | ETFDH | 4 | 0.99946062567422 | 1 | 1854 | 159616649 |
| 309 | GK | 4 | 0.98676293622142 | 22 | 1662 | 166199162-166199168, 166199234-166199240, 166199349, 166199426-166199432 |
| 310 | SDHA | 5 | 0.88421052631579 | 231 | 1995 | 223682-223683, 228300-228325, 228378-228399, 228428-228434, 233592-233598, 233689-233696, 236646-236684, 251108-251149, 251190-251214, 251500-251506, 254526-254532, 254569-254577, 254606-254621, 256469-256475, 256511-256517 |
| 311 | TERT | 5 | 0.9979405707561 | 7 | 3399 | 1294718-1294721, 1295089-1295091 |
| 312 | SDHA | 5 | 0.97859327217125 | 7 | 327 | 1593261-1593267 |
| 313 | DNAH5 | 5 | 0.99913513513514 | 12 | 13875 | 13864687, 13916512-13916522 |
| 314 | FAM134B | 5 | 0.9946452476573 | 8 | 1494 | 16616846-16616853 |
| 315 | NIPBL | 5 | 0.98265002970885 | 146 | 8415 | 37036481-37036483, 37036489-37036496, 37036524-37036539, 37036546-37036560, 37036568-37036574, 37036580, 37036584-37036589, 37048610-37048636, 37048645-37048651, 37048653, 37048656-37048691, 37048699-37048703, 37048721, 37048765-37048777 |
| 316 | LIFR | 5 | 0.97449908925319 | 84 | 3294 | 38482697-38482698, 38482717-38482769, 38490362-38490368, 38506064-38506085 |
| 317 | OXCT1 | 5 | 0.96992962252079 | 47 | 1563 | 41862744-41862789, 41862810 |
| 318 | GHR | 5 | 0.98956703182055 | 20 | 1917 | 42718969-42718988 |
| 319 | ERCC8 | 5 | 0.99580184718724 | 5 | 1191 | 60199540, 60200654-60200657 |
| 320 | SMN2 | 5 | 0.98079096045198 | 17 | 885 | 69362945-69362961 |
| 321 | SMN2 | 5 | 0.98079096045198 | 17 | 885 | 70238369-70238385 |
| 322 | AP3B1 | 5 | 0.99421613394216 | 19 | 3285 | 77563344-77563354, 77563402, 77563413-77563419 |
| 323 | RASA1 | 5 | 0.97169211195929 | 89 | 3144 | 86669980-86669989, 86670051-86670056, 86670062, 86670066-86670137 |
| 324 | MEF2C | 5 | 0.98804500703235 | 17 | 1422 | 88024343-88024358, 88024410 |
| 325 | GPR98 | 5 | 0.99841446012367 | 30 | 18921 | 89914963, 89933701-89933703, 89971950-89971957, 90144454-90144457, 90144518, 90144564, 90144588-90144593, 90144596-90144601 |
| 326 | WDR36 | 5 | 0.99964985994398 | 1 | 2856 | 110436325 |
| 327 | APC | 5 | 0.99988279418659 | 1 | 8532 | 112111326 |
| 328 | HSD17B4 | 5 | 0.99954771596563 | 1 | 2211 | 118835134 |
| 329 | LMNB1 | 5 | 0.99091425326519 | 16 | 1761 | 126141281-126141296 |
| 330 | FBN2 | 5 | 0.99782583819659 | 19 | 8739 | 127626532, 127645675-127645692 |
| 331 | MYOT | 5 | 0.97595190380762 | 36 | 1497 | 137221820-137221839, 137221849-137221856, 137221867, 137221880-137221886 |
| 332 | MATR3 | 5 | 0.99960691823899 | 1 | 2544 | 138658536 |
| 333 | NDUFA2 | 5 | 0.98666666666667 | 4 | 300 | 140027143-140027145, 140027148 |
| 334 | DIAPH1 | 5 | 0.99711966483373 | 11 | 3819 | 140907263-140907264, 140953564-140953572 |
| 335 | TCOF1 | 5 | 0.99977043158861 | 1 | 4356 | 149769530 |
| 336 | GRM6 | 5 | 0.99468488990129 | 14 | 2634 | 178421770, 178421778-178421784, 178421788, 178421797-178421801 |
| 337 | SQSTM1 | 5 | 0.96900982615268 | 41 | 1323 | 179247982-179248022 |
| 338 | FOXC1 | 6 | 0.97593261131167 | 40 | 1662 | 1611548-1611569, 1611798-1611808, 1612014-1612015, 1612018-1612020, 1612050, 1612053 |
| 339 | DTNBP1 | 6 | 0.99905303030303 | 1 | 1056 | 15651580 |
| 340 | ATXN1 | 6 | 0.99346405228758 | 16 | 2448 | 16327865-16327867, 16327887-16327888, 16327894, 16327907-16327909, 16327915-16327918, 16327921, 16327924, 16327927 |
| 341 | ALDH5A1 | 6 | 0.99878567091682 | 2 | 1647 | 24495532-24495533 |
| 342 | HLA-H | 6 | 0.948 | 39 | 750 | 29856330, 29856353, 29856368, 29856397, 29856406, 29856424-29856430, 29856593-29856614, 29856643, 29856679, 29856686, 29856693, 29856711 |
| 343 | TNXB | 6 | 0.94401244167963 | 108 | 1929 | 31976916, 31976926, 31977142-31977170, 31977391, 31977528, 31977538, 31977548, 31977552, 31977994-31978002, 31978498-31978527, 31979476-31979508 |
| 344 | CYP21A2 | 6 | 0.90524193548387 | 141 | 1488 | 32006211-32006234, 32006317, 32006337, 32006886, 32007200-32007206, 32007325, 32007404-32007410, 32007843-32007849, 32007884-32007890, 32007956-32007982, 32008195-32008230, 32008448-32008454, 32008893-32008907 |
| 345 | TNXB | 6 | 0.99025846492262 | 124 | 12729 | 32009648-32009664, 32009877-32009905, 32010126, 32010268-32010289, 32010728-32010736, 32011235, 32011248, 32012330-32012362, 32021355-32021365 |
| 346 | HLA-DQA1 | 6 | 0.890625 | 84 | 768 | 32609173, 32609192, 32609207, 32609222-32609224, 32609229-32609230, 32609234-32609241, 32609264, 32609271, 32609286, 32609312, 32609749, 32609949-32609977, 32609999-32610012, 32610387-32610406 |
| 347 | HLA-DQB1 | 6 | 0.77735368956743 | 175 | 786 | 32629124-32629173, 32629190-32629202, 32629224-32629234, 32629809, 32629963, 32632575-32632653, 32632744-32632745, 32632758-32632762, 32632770, 32632772-32632777, 32632818, 32632820, 32634341, 32634350, 32634369, 32634373 |
| 348 | SYNGAP1 | 6 | 0.94890873015873 | 206 | 4032 | 33388042-33388108, 33393623-33393628, 33393635-33393636, 33393645, 33393652-33393662, 33393668-33393671, 33393674-33393676, 33410908-33410909, 33411509-33411512, 33411522-33411528, 33411553-33411582, 33411588, 33411603, 33411606-33411615, 33411622-33411678 |
| 349 | MOCS1 | 6 | 0.99895342752486 | 2 | 1911 | 39874664-39874665 |
| 350 | RUNX2 | 6 | 0.94061302681992 | 93 | 1566 | 45390442-45390534 |
| 351 | CD2AP | 6 | 0.99635416666667 | 7 | 1920 | 47512423-47512424, 47563606-47563610 |
| 352 | MUT | 6 | 0.95428317798491 | 103 | 2253 | 49409553-49409557, 49409576-49409634, 49409641-49409679 |
| 353 | PKHD1 | 6 | 0.99967280163599 | 4 | 12225 | 51944758-51944761 |
| 354 | EYS | 6 | 0.99353471118177 | 61 | 9435 | 65301544-65301556, 65523322-65523357, 65523371-65523374, 65596632-65596633, 65707497, 66005909-66005912, 66094312 |
| 355 | LMBRD1 | 6 | 0.99199014171288 | 13 | 1623 | 70410733, 70410736-70410743, 70410757, 70410760-70410761, 70411815 |
| 356 | RIMS1 | 6 | 0.99803110848592 | 10 | 5079 | 73108778, 73108781-73108784, 73108792-73108796 |
| 357 | LCA5 | 6 | 0.99713467048711 | 6 | 2094 | 80196731-80196736 |
| 358 | BCKDHB | 6 | 0.99067005937235 | 11 | 1179 | 80881038, 80881044, 80881059, 80881098-80881104, 80881107 |
| 359 | OSTM1 | 6 | 0.99601990049751 | 4 | 1005 | 108372367-108372370 |
| 360 | FIG4 | 6 | 0.9988986784141 | 3 | 2724 | 110053841, 110053844-110053845 |
| 361 | WISP3 | 6 | 0.9562109025916 | 49 | 1119 | 112389536-112389561, 112389579-112389601 |
| 362 | LAMA2 | 6 | 0.99989319662501 | 1 | 9363 | 129486752 |
| 363 | ENPP1 | 6 | 0.9996400287977 | 1 | 2778 | 132203543 |
| 364 | EYA4 | 6 | 0.99739583333333 | 5 | 1920 | 133767891, 133783580-133783583 |
| 365 | PEX7 | 6 | 0.94444444444444 | 54 | 972 | 137167234-137167237, 137167257, 137167259-137167269, 137167274-137167310, 137167319 |
| 366 | PEX3 | 6 | 0.99019607843137 | 11 | 1122 | 143784068, 143792122-143792131 |
| 367 | SYNE1 | 6 | 0.99969690081079 | 8 | 26394 | 152545780, 152716679-152716685 |
| 368 | TBP | 6 | 0.96372549019608 | 37 | 1020 | 170871001-170871003, 170871031-170871034, 170871037-170871040, 170871043, 170871046, 170871049, 170871052, 170871059-170871067, 170871070-170871073, 170871079-170871086, 170871097 |
| 369 | LFNG | 7 | 0.90263157894737 | 111 | 1140 | 2559496-2559504, 2559506-2559512, 2559528-2559529, 2559536, 2559540-2559548, 2559583, 2559598-2559606, 2559609-2559614, 2559620, 2559654-2559655, 2559658, 2559674-2559678, 2559681, 2559692-2559696, 2559723-2559730, 2559738-2559779, 2559848-2559849 |
| 370 | PMS2 | 7 | 0.98918501351873 | 28 | 2589 | 6026988, 6027002, 6042264-6042267, 6043383-6043390, 6043641-6043647, 6045523-6045529 |
| 371 | TWIST1 | 7 | 0.7504105090312 | 152 | 609 | 19156793-19156944 |
| 372 | DNAH11 | 7 | 0.99852637783672 | 20 | 13572 | 21630542, 21630561-21630569, 21630573, 21630637, 21630913-21630915, 21630926-21630928, 21893971-21893972 |
| 373 | FAM126A | 7 | 0.99872286079183 | 2 | 1566 | 23000883, 23000932 |
| 374 | KLHL7 | 7 | 0.99148211243612 | 15 | 1761 | 23163472-23163486 |
| 375 | HOXA13 | 7 | 0.98286203941731 | 20 | 1167 | 27239425, 27239455-27239460, 27239467-27239472, 27239556-27239559, 27239568, 27239571-27239572 |
| 376 | GARS | 7 | 0.99864864864865 | 3 | 2220 | 30634583-30634585 |
| 377 | RP9 | 7 | 0.98948948948949 | 7 | 666 | 33135000-33135006 |
| 378 | BBS9 | 7 | 0.9984984984985 | 4 | 2664 | 33303902-33303903, 33303923, 33303939 |
| 379 | TXNDC3 | 7 | 0.99943406904358 | 1 | 1767 | 37916584 |
| 380 | CCM2 | 7 | 0.97752808988764 | 30 | 1335 | 45039933-45039962 |
| 381 | SBDS | 7 | 0.99070385126162 | 7 | 753 | 66456158-66456164 |
| 382 | NCF1 | 7 | 0.93333333333333 | 55 | 825 | 72637917, 72639957-72639989, 72640033-72640039, 72643704-72643710, 72644230-72644236 |
| 383 | ELN | 7 | 0.99862068965517 | 3 | 2175 | 73466283-73466285 |
| 384 | NCF1 | 7 | 0.96504688832055 | 41 | 1173 | 74193665-74193671, 74203013-74203046 |
| 385 | HSPB1 | 7 | 0.99352750809061 | 4 | 618 | 75932201-75932204 |
| 386 | AKAP9 | 7 | 0.99505288297509 | 58 | 11724 | 91609603-91609637, 91609641-91609647, 91630265-91630268, 91667796-91667807 |
| 387 | KRIT1 | 7 | 0.99954771596563 | 1 | 2211 | 91867061 |
| 388 | COL1A2 | 7 | 0.99366008290661 | 26 | 4101 | 94030879-94030884, 94030896-94030901, 94030912-94030919, 94049725-94049728, 94058704-94058705 |
| 389 | SLC26A5 | 7 | 0.99686800894855 | 7 | 2235 | 103017298, 103017301, 103019743-103019747 |
| 390 | SLC26A4 | 7 | 0.9995731967563 | 1 | 2343 | 107323649 |
| 391 | CFTR | 7 | 0.95003376097232 | 222 | 4443 | 117188713-117188753, 117188759-117188800, 117188847-117188877, 117235005-117235112 |
| 392 | AASS | 7 | 0.99928083423229 | 2 | 2781 | 121738920, 121769545 |
| 393 | IMPDH1 | 7 | 0.995 | 9 | 1800 | 128049843-128049848, 128049863-128049865 |
| 394 | FLNC | 7 | 0.99914404499878 | 7 | 8178 | 128498187-128498193 |
| 395 | ATP6V0A4 | 7 | 0.99682917162109 | 8 | 2523 | 138394405-138394411, 138394424 |
| 396 | BRAF | 7 | 0.99435028248588 | 13 | 2301 | 140434559-140434562, 140434566-140434570, 140624406-140624409 |
| 397 | PRSS1 | 7 | 0.88844086021505 | 83 | 744 | 142458548-142458565, 142459625-142459629, 142459664-142459682, 142459863-142459874, 142460313, 142460335, 142460339, 142460366-142460391 |
| 398 | CLCN1 | 7 | 0.99932591843613 | 2 | 2967 | 143017794-143017795 |
| 399 | CNTNAP2 | 7 | 0.997997997998 | 8 | 3996 | 145813983-145813988, 145813997, 146471455 |
| 400 | KCNH2 | 7 | 0.99798850574713 | 7 | 3480 | 150644702, 150644726, 150648905, 150671952-150671954, 150671961 |
| 401 | PRKAG2 | 7 | 0.99941520467836 | 1 | 1710 | 151269777 |
| 402 | MNX1 | 7 | 0.89054726368159 | 132 | 1206 | 156799288-156799295, 156802654-156802655, 156802661-156802760, 156802879, 156802884-156802885, 156802889-156802893, 156802896-156802897, 156802900-156802907, 156802910-156802913 |
| 403 | ADAM9 | 8 | 0.99959349593496 | 1 | 2460 | 38880696 |
| 404 | ANK1 | 8 | 0.99894625922023 | 6 | 5694 | 41530159-41530164 |
| 405 | CHD7 | 8 | 0.99933288859239 | 6 | 8994 | 61734583-61734588 |
| 406 | EYA1 | 8 | 0.99943788645306 | 1 | 1779 | 72211381 |
| 407 | CNGB3 | 8 | 0.99835390946502 | 4 | 2430 | 87656872, 87656875, 87656880, 87656888 |
| 408 | NBN | 8 | 0.99867549668874 | 3 | 2265 | 90960107-90960109 |
| 409 | TMEM67 | 8 | 0.99866131191432 | 4 | 2988 | 94768006-94768007, 94803546, 94827545 |
| 410 | VPS13B | 8 | 0.99358012339503 | 77 | 11994 | 100123342, 100123366, 100123389-100123394, 100123402-100123424, 100123440-100123444, 100123449-100123453, 100123455, 100513973, 100513976-100513980, 100513984-100513986, 100514009-100514024, 100514035-100514044 |
| 411 | GRHL2 | 8 | 0.99946751863685 | 1 | 1878 | 102589637 |
| 412 | TNFRSF11B | 8 | 0.98839137645108 | 14 | 1206 | 119936872-119936885 |
| 413 | KCNQ3 | 8 | 0.99618174875907 | 10 | 2619 | 133492767-133492776 |
| 414 | TG | 8 | 0.99987961959793 | 1 | 8307 | 133882071 |
| 415 | CYP11B1 | 8 | 0.94775132275132 | 79 | 1512 | 143957128-143957154, 143958513-143958533, 143958572-143958602 |
| 416 | CYP11B2 | 8 | 0.92328042328042 | 116 | 1512 | 143993947-143993994, 143994026-143994032, 143994069-143994081, 143994263-143994282, 143994777-143994783, 143996536-143996556 |
| 417 | PLEC | 8 | 0.99836357168268 | 23 | 14055 | 144993965-144993966, 144996241-144996253, 144996260, 144998917-144998918, 144999057-144999061 |
| 418 | GPT | 8 | 0.99731723675386 | 4 | 1491 | 145731254-145731257 |
| 419 | JAK2 | 9 | 0.97528684907326 | 84 | 3399 | 5077469-5077475, 5077489-5077551, 5077555, 5077578-5077580, 5080594-5080600, 5090446-5090448 |
| 420 | FANCG | 9 | 0.99785981808454 | 4 | 1869 | 35079199-35079202 |
| 421 | TRPM6 | 9 | 0.99983522820893 | 1 | 6069 | 77347624 |
| 422 | VPS13A | 9 | 0.98225721784777 | 169 | 9525 | 79824426-79824427, 79840842-79840848, 79840851-79840856, 79841404, 79841408, 79843072-79843073, 79843077-79843078, 79890545, 79896790-79896812, 79896833-79896842, 79908310-79908313, 79908404-79908424, 79910632-79910635, 79910641-79910646, 79910672, 79928908-79928917, 79928961, 79928988, 79929034-79929035, 79931205-79931206, 79932538, 79932551, 79932581-79932589, 79932593-79932614, 79938138-79938143, 79946976, 79952312-79952313, 79975452-79975455, 79975459, 79996931, 79996970, 79996977, 79996983-79996993, 79997003 |
| 423 | PTCH1 | 9 | 0.99861878453039 | 6 | 4344 | 98231116-98231121 |
| 424 | HSD17B3 | 9 | 0.98606645230439 | 13 | 933 | 99015109-99015121 |
| 425 | XPA | 9 | 0.9963503649635 | 3 | 822 | 100437805-100437807 |
| 426 | FOXE1 | 9 | 0.99465240641711 | 6 | 1122 | 100616701-100616706 |
| 427 | TGFBR1 | 9 | 0.99140211640212 | 13 | 1512 | 101867536-101867546, 101867565-101867566 |
| 428 | MUSK | 9 | 0.99961685823755 | 1 | 2610 | 113547956 |
| 429 | NR5A1 | 9 | 0.998556998557 | 2 | 1386 | 127245132-127245133 |
| 430 | STXBP1 | 9 | 0.99834437086093 | 3 | 1812 | 130415998, 130416009-130416010 |
| 431 | TOR1A | 9 | 0.97997997997998 | 20 | 999 | 132586322-132586341 |
| 432 | CEL | 9 | 0.8665785997358 | 303 | 2271 | 135944521-135944527, 135944583-135944589, 135945994-135946018, 135946387-135946393, 135946684-135946693, 135946719-135946758, 135946775-135946800, 135946808-135946988 |
| 433 | DBH | 9 | 0.99838187702265 | 3 | 1854 | 136523500-136523502 |
| 434 | COL5A1 | 9 | 0.99818742069966 | 10 | 5517 | 137534074, 137534087-137534095 |
| 435 | LHX3 | 9 | 0.99421009098428 | 7 | 1209 | 139090885, 139090891-139090893, 139094860-139094862 |
| 436 | INPP5E | 9 | 0.99793281653747 | 4 | 1935 | 139333325-139333326, 139333330-139333331 |
| 437 | NOTCH1 | 9 | 0.99960876369327 | 3 | 7668 | 139396306, 139400145-139400146 |
| 438 | AGPAT2 | 9 | 0.96654719235364 | 28 | 837 | 139581745, 139581750-139581760, 139581765, 139581780-139581782, 139581798-139581809 |
| 439 | SLC34A3 | 9 | 0.97333333333333 | 48 | 1800 | 140128330-140128377 |
| 440 | CSF2RA | X | 0.98773946360153 | 16 | 1305 | 1422154-1422169 |
| 441 | SMS | X | 0.99818346957312 | 2 | 1101 | 21958962-21958963 |
| 442 | ARX | X | 0.99703966844287 | 5 | 1689 | 25031777-25031779, 25031784-25031785 |
| 443 | RPGR | X | 0.96675339693553 | 115 | 3459 | 38145324-38145353, 38145398-38145400, 38145405-38145411, 38145423, 38145435-38145436, 38145441, 38145462, 38145568-38145584, 38145590-38145637, 38145644, 38145660-38145663 |
| 444 | AR | X | 0.99167571480275 | 23 | 2763 | 66765172-66765186, 66765189, 66766380-66766382, 66766389, 66766393, 66766396-66766397 |
| 445 | MED12 | X | 0.99862258953168 | 9 | 6534 | 70338653-70338659, 70338702-70338703 |
| 446 | TAF1 | X | 0.98732840549102 | 72 | 5682 | 70586169-70586226, 70586236-70586244, 70586252, 70586255-70586258 |
| 447 | ZIC3 | X | 0.99786324786325 | 3 | 1404 | 136648985-136648987 |
| 448 | SLC6A8 | X | 0.9811320754717 | 36 | 1908 | 152954138-152954170, 152954225-152954227 |
| 449 | ABCD1 | X | 0.99374441465594 | 14 | 2238 | 153008473-153008486 |
| 450 | MECP2 | X | 0.99599198396794 | 6 | 1497 | 153363081, 153363100-153363104 |
| Effect rank | Variant | Phase/ Zygosity | Allele freq | Impact | Evaluation | Summary / Info |
|---|---|---|---|---|---|---|
| 2.5 | COL4A1-Q1334H | homozygous | 0.292 | Dominant pathogenic | Low clinical importance, likely | This common variant has been associated with arterial stiffness and, in Japanese, a small increased risk of myocardial infarction (MI, a.k.a. heart attack). This last observation supported a dominant effect for this variant and, assuming a lifetime risk of 15% for MI, we estimate carriers have an additional risk of 0.5-3%. |
| 2.5 | COL4A1-T555P | homozygous | 0.994 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 2.5 | COL4A1-V7L | homozygous | 0.211 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 2.5 | FECH-G55C | het unknown | 0.008 | Unknown pathogenic | Insufficiently evaluated | Prioritization score: 4 Polyphen 2: Unknown, Testable gene in GeneTests |
| 2.5 | ACTN2-Q9R | het unknown | Unknown pathogenic | Insufficiently evaluated | Prioritization score: 5 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview | |
| 2.5 | ZFYVE27-G138V | het unknown | 0.720 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: Unknown, Testable gene in GeneTests |
| 2.5 | ZFYVE27-G191V | het unknown | 0.016 | Unknown pathogenic | Insufficiently evaluated | Prioritization score: 4 Polyphen 2: 0.688 (possibly damaging), Testable gene in GeneTests |
| 2.5 | TLR5-F822L | homozygous | 1.000 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 2.5 | TLR5-F616L | het unknown | 0.263 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: 0.011 (benign) |
| 2.5 | TLR5-R392* | het unknown | 0.035 | Complex/Other pathogenic | Low clinical importance, uncertain | This variant is believed to impair the ability to generate an immune response to the flagella of the bacteria. It is weakly associated with an increased incidence of Legionnaires' Disease, p = 0.085, increased lifetime risk of disease ~0.88% (about twice average). The variant is also weakly associated with a reduced incidence of systemic lupus erythematosus, p = 0.165. |
| 2.5 | TLR5-Q181K | het unknown | 0.032 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: Unknown |
| 2.5 | SP110-M523T | het unknown | 0.319 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 2.5 | 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. |
| 2.5 | SP110-G299R | het unknown | 0.822 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 2.5 | SP110-A206V | het unknown | 0.142 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 2.5 | SP110-W112R | homozygous | 0.945 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 2.5 | TNFRSF13B-C104R | het unknown | Unknown pathogenic | Insufficiently evaluated | Prioritization score: 6 Polyphen 2: 1.0 (probably damaging), Testable gene in GeneTests with associated GeneReview | |
| 2 | BANK1-R61H | homozygous | 0.221 | Unknown pathogenic | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown |
| 2 | BANK1-A383T | homozygous | 0.233 | Unknown pharmacogenetic | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: 0.778 (possibly damaging) |
| 2 | BANK1-C650R | homozygous | 0.990 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 2 | CILP-G1166S | het unknown | 0.766 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 2 | CILP-Q979R | homozygous | 0.986 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 2 | CILP-K575E | homozygous | 0.974 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 2 | CILP-I395T | homozygous | 0.491 | Unknown pathogenic | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown |
| 2 | ITGAM-R77H | het unknown | 0.095 | Unknown pathogenic | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.048 (benign) |
| 2 | ITGAM-M441T | het unknown | 0.165 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 2 | ITGAM-A859V | het unknown | 0.136 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 2 | ITGAM-P1147S | het unknown | 0.141 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 2 | AURKA-I57V | homozygous | 0.814 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 2 | AURKA-F31I | homozygous | 0.366 | Unknown pathogenic | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown |
| 2 | NEFL-S472Shift | homozygous | Unknown | Insufficiently evaluated | Prioritization score: 4 Frameshift, Testable gene in GeneTests with associated GeneReview | |
| 2 | TLR4-D299G | het unknown | 0.062 | Unknown pathogenic | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.006 (benign) |
| 2 | TLR4-T399I | het unknown | 0.039 | Unknown pathogenic | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.016 (benign) |
| 2 | MTRR-I49M | homozygous | 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. |
| 2 | MTRR-S202L | het unknown | 0.285 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 2 | ALAD-K59N | het unknown | 0.060 | Unknown pathogenic | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests |
| 1.5 | KCNE2-T8A | het unknown | Unknown pharmacogenetic | Insufficiently evaluated | Prioritization score: 4 Polyphen 2: 0.497 (possibly damaging), Testable gene in GeneTests with associated GeneReview | |
| 1.5 | PPARG-P12A | het unknown | 0.051 | Unknown pharmacogenetic | Insufficiently evaluated | Prioritization score: 4 Polyphen 2: 0.979 (probably damaging), Testable gene in GeneTests |
| 1.5 | KCNJ11-V337I | homozygous | 0.761 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 1.5 | KCNJ11-K23E | homozygous | 0.711 | Unknown protective | Low clinical importance, likely | This variant is associated with decreased risk of type 2 diabetes. It is unclear whether this variant has additive effects, or acts in a dominant or recessive manner. Assuming diabetes has a lifetime risk of 36%, we estimate a decreased risk of around 1-2% per copy of this variant. |
| 1.25 | 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. |
| 1.25 | RNASEL-D541E | het unknown | 0.470 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: Unknown, Testable gene in GeneTests |
| 1.25 | RNASEL-R462Q | het unknown | 0.208 | Complex/Other pathogenic | Low clinical importance, uncertain | Associated with increased risk of prostate cancer in individuals who already have a family history of prostate cancer, but studies have been unable to replicate this finding in sporadic (non-familial) prostate cancer cases. |
| 1.25 | 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 | CCDC74B-P201S | homozygous | 0.045 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.998 (probably damaging) |
| 1 | CCDC74B-H149R | homozygous | 0.956 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 1 | BLMH-I443V | het unknown | 0.241 | Unknown pathogenic | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown |
| 1 | FRZB-R200W | het unknown | 0.045 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 4 Polyphen 2: 0.999 (probably damaging) |
| 1 | TTN-R32283Q | het unknown | Unknown | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview | |
| 1 | TTN-V31313I | het unknown | Unknown | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview | |
| 1 | TTN-I23649T | het unknown | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview | |
| 1 | TTN-A19840P | homozygous | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview | |
| 1 | TTN-S19140L | het unknown | Unknown | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview | |
| 1 | TTN-R9852H | het unknown | 0.198 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 1 | TTN-G9378R | het unknown | 0.395 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 1 | TTN-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 | C14orf104-D768G | homozygous | Unknown | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview | |
| 1 | C14orf104-E62D | homozygous | Unknown | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview | |
| 1 | KRT4-G160GAGGFGAGFGTGGFG | homozygous | 0.008 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests |
| 1 | HSH2D-S223Shift | homozygous | 0.016 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Frameshift |
| 1 | AX746903-T82Shift | homozygous | Unknown | Insufficiently evaluated | Prioritization score: 2 Frameshift | |
| 1 | HLA-H-D29A | homozygous | 0.071 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 1 | HLA-H-P32Q | homozygous | 0.060 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 1 | HLA-H-E34M | homozygous | Unknown | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview | |
| 1 | HLA-H-R72L | het unknown | 0.011 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 1 | HLA-H-S182W | het unknown | 0.392 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 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 | C19orf55-A325V | het unknown | Unknown | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: Unknown | |
| 1 | C19orf55-K365N | het unknown | Unknown | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: Unknown | |
| 1 | C19orf55-G398Shift | homozygous | Unknown | Insufficiently evaluated | Prioritization score: 2 Frameshift | |
| 1 | TCEAL6-Q175Shift | homozygous | 0.022 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Frameshift |
| 1 | TNXB-R48P | homozygous | Unknown | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview | |
| 1 | NEB-I6534V | homozygous | 0.372 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 1 | NEB-A6277P | homozygous | 0.691 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 1 | NEB-R4389T | homozygous | 0.724 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 1 | NEB-W3348C | homozygous | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview | |
| 1 | NEB-K2613N | het unknown | 0.138 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 1 | NEB-R1856Q | het unknown | Unknown | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview | |
| 1 | NEB-V1491M | homozygous | 0.453 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 1 | NEB-Y1301H | homozygous | 0.668 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 1 | NEB-K1027N | homozygous | 0.476 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 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 | SYNE1-G8323A | het unknown | 0.310 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.003 (benign), Testable gene in GeneTests with associated GeneReview |
| 1 | SYNE1-S7506G | het unknown | Unknown | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview | |
| 1 | SYNE1-F7302V | homozygous | 0.991 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 1 | SYNE1-L5015M | het unknown | 0.866 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 1 | SYNE1-S4596T | het unknown | 0.800 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 1 | SYNE1-K4121R | het unknown | 0.835 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 1 | SYNE1-K4121R | het unknown | 0.835 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 1 | SYNE1-E4060D | homozygous | 0.539 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.005 (benign), Testable gene in GeneTests with associated GeneReview |
| 1 | SYNE1-N1915Shift | het unknown | 0.008 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 4 Frameshift, Testable gene in GeneTests with associated GeneReview |
| 1 | SYNE1-D1730E | het unknown | 0.031 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.001 (benign), Testable gene in GeneTests with associated GeneReview |
| 1 | SYNE1-V1035A | homozygous | 0.632 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.673 (possibly damaging), Testable gene in GeneTests with associated GeneReview |
| 1 | SYNE1-L885V | het unknown | 0.014 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.006 (benign), Testable gene in GeneTests with associated GeneReview |
| 1 | DLL3-L142Q | homozygous | 0.020 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: 0.707 (possibly damaging), Testable gene in GeneTests with associated GeneReview |
| 1 | ATG9B-A765Shift | homozygous | Unknown | Insufficiently evaluated | Prioritization score: 2 Frameshift | |
| 1 | FAM201A-Q115* | homozygous | Unknown | Insufficiently evaluated | Prioritization score: 2 Nonsense mutation | |
| 1 | KRT83-H493Y | homozygous | 0.791 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: Unknown, Testable gene in GeneTests |
| 1 | KRT83-I279M | homozygous | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests | |
| 1 | KRT83-E201* | het unknown | 0.008 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 3 Nonsense mutation, Testable gene in GeneTests |
| 1 | HABP2-T50M | homozygous | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests | |
| 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 | PROZ-R295H | homozygous | 0.005 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.884 (probably damaging) |
| 1 | DGKK-D1111N | homozygous | 0.145 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 1 | DGKK-L1014Shift | homozygous | Unknown | Insufficiently evaluated | Prioritization score: 2 Frameshift | |
| 1 | PIK3R6-L609Shift | homozygous | Unknown | Insufficiently evaluated | Prioritization score: 2 Frameshift | |
| 1 | MLXIPL-A358V | het unknown | 0.134 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: 0.345 (possibly damaging) |
| 1 | MLXIPL-Q241H | het unknown | 0.090 | Unknown pharmacogenetic | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.697 (possibly damaging) |
| 1 | PLEKHA2-P389Shift | homozygous | 0.032 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Frameshift |
| 1 | PNLIPRP3-S179Shift | homozygous | 0.008 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Frameshift |
| 1 | PNLIPRP3-V381I | homozygous | 0.933 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 1 | PNLIPRP3-R382G | homozygous | 0.945 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 1 | C17orf103-V41I | het unknown | Unknown | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: Unknown | |
| 1 | C17orf103-C16Shift | homozygous | Unknown | Insufficiently evaluated | Prioritization score: 2 Frameshift | |
| 1 | RYK-L17Shift | homozygous | Unknown | Insufficiently evaluated | Prioritization score: 2 Frameshift | |
| 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 | het unknown | 0.206 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: 0.999 (probably damaging) |
| 1 | CCDC66-S606SS | het unknown | Unknown | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: Unknown | |
| 1 | ZNF167-N494Shift | homozygous | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Frameshift | |
| 1 | EDN1-K198N | het unknown | 0.235 | Unknown pathogenic | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.002 (benign) |
| 1 | CYBA-Y72H | homozygous | 0.649 | Unknown pharmacogenetic | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests |
| 1 | HLA-DQB1-S214N | het unknown | 0.333 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 1 | HLA-DQB1-A172T | het unknown | 0.342 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 1 | HLA-DQB1-G157A | het unknown | 0.539 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 1 | HLA-DQB1-G157S | het unknown | 0.140 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 1 | HLA-DQB1-D89V | homozygous | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview | |
| 1 | HLA-DQB1-L58Y | het unknown | 0.132 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 1 | HLA-DQB1-L58Y | het unknown | 0.132 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 1 | HLA-DQB1-F41Y | homozygous | 0.789 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 1 | HLA-DQB1-L28S | het unknown | 0.375 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 1 | HLA-DQB1-L28S | het unknown | 0.375 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 1 | HLA-DQB1-S27T | het unknown | 0.206 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 1 | HLA-DQB1-M24I | het unknown | 0.294 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 1 | TYK2-G363S | homozygous | 0.024 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests |
| 1 | MTHFD1-K134R | homozygous | 0.846 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 1 | MTHFD1-R653Q | homozygous | 0.320 | Unknown pharmacogenetic | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.008 (benign) |
| 1 | SEBOX-L207S | het unknown | 0.913 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 1 | SEBOX-W10Shift | homozygous | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Frameshift | |
| 1 | ADH1B-H48R | homozygous | 0.678 | Unknown pharmacogenetic | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown |
| 1 | INSR-A2G | homozygous | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests | |
| 1 | ENO3-N71S | homozygous | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests | |
| 1 | ENO3-V85A | homozygous | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests | |
| 1 | IL13-Q144R | homozygous | 0.766 | Unknown pharmacogenetic | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown |
| 1 | ERCC4-R415Q | homozygous | 0.030 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 1.0 (probably damaging) |
| 1 | F5-M2148T | het unknown | 0.021 | 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-D107H | het unknown | 0.127 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 1 | KRTAP7-1-I61S | homozygous | Unknown | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: Unknown | |
| 1 | KRTAP7-1-S51P | homozygous | Unknown | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: Unknown | |
| 1 | KRTAP7-1-Y17Shift | homozygous | Unknown | Insufficiently evaluated | Prioritization score: 2 Frameshift | |
| 1 | ZNF598-M637T | homozygous | 0.601 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 1 | ZNF598-A608T | het unknown | 0.117 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 1 | ZNF598-E555EE | het unknown | Unknown | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: Unknown | |
| 1 | ZNF598-S453Y | het unknown | 0.107 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 1 | ZNF598-G42Shift | homozygous | Unknown | Insufficiently evaluated | Prioritization score: 2 Frameshift | |
| 1 | ZNF598-E25G | homozygous | Unknown | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: Unknown | |
| 1 | ZNF598-E17A | homozygous | Unknown | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: Unknown | |
| 1 | ZNF598-DM13AL | homozygous | Unknown | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: Unknown | |
| 1 | ZNF598-G6Shift | homozygous | Unknown | Insufficiently evaluated | Prioritization score: 2 Frameshift | |
| 1 | B3GNT6-L316Shift | homozygous | Unknown | Insufficiently evaluated | Prioritization score: 2 Frameshift | |
| 1 | B3GNT6-L335Shift | homozygous | Unknown | Insufficiently evaluated | Prioritization score: 2 Frameshift | |
| 1 | SAMD10-A151V | homozygous | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.985 (probably damaging) | |
| 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 | RAD17-L557R | homozygous | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.997 (probably damaging) | |
| 1 | CYP2C9-I359L | het unknown | 0.016 | Unknown pharmacogenetic | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.048 (benign) |
| 1 | CHRNA5-D398N | het unknown | 0.158 | Unknown pathogenic | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.003 (benign) |
| 1 | NR_027242-C222Shift | het unknown | Unknown | Insufficiently evaluated | Prioritization score: 2 Frameshift | |
| 1 | NR_027242-L114P | het unknown | 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 | SCARF2-A832G | homozygous | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: Unknown | |
| 1 | SCARF2-A814G | homozygous | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: Unknown | |
| 1 | SCARF2-DV772EL | homozygous | Unknown | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: Unknown | |
| 1 | SCARF2-E764Shift | homozygous | Unknown | Insufficiently evaluated | Prioritization score: 2 Frameshift | |
| 1 | SCARF2-P747Shift | homozygous | Unknown | Insufficiently evaluated | Prioritization score: 2 Frameshift | |
| 1 | SCARF2-A745Shift | homozygous | Unknown | Insufficiently evaluated | Prioritization score: 2 Frameshift | |
| 1 | SCARF2-P656L | het unknown | Unknown | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: Unknown | |
| 1 | AMY2B-G319R | homozygous | 0.023 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.999 (probably damaging) |
| 1 | ADAMTSL3-H146R | homozygous | 0.706 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: 0.04 (benign) |
| 1 | ADAMTSL3-L290V | homozygous | 0.833 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 1 | ADAMTSL3-V661L | homozygous | 0.711 | Unknown pharmacogenetic | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown |
| 1 | ADAMTSL3-L869F | het unknown | 0.272 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: 0.148 (benign) |
| 1 | ADAMTSL3-T1660I | het unknown | 0.106 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: 0.001 (benign) |
| 1 | PTPN22-W620R | homozygous | 0.970 | Unknown pharmacogenetic | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown |
| 1 | AMPD1-P48L | het unknown | 0.047 | Unknown benign | Low clinical importance, uncertain | Probably benign, ancestral to15173240 pathogenic Q12X mutation. |
| 1 | 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 | COL18A1-A288T | homozygous | 0.177 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: 0.017 (benign), Testable gene in GeneTests |
| 1 | COL18A1-T379M | het unknown | 0.325 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.969 (probably damaging), Testable gene in GeneTests |
| 1 | COL18A1-L392P | het unknown | Unknown | 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 | NPRL3-L489Shift | homozygous | 0.048 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Frameshift |
| 1 | MS4A14-I56Shift | homozygous | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Frameshift | |
| 1 | MS4A14-N177Y | homozygous | 0.543 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: 0.981 (probably damaging) |
| 1 | MS4A14-G584R | homozygous | 0.513 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: 0.003 (benign) |
| 1 | ZNF217-D889G | homozygous | 0.048 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.972 (probably damaging) |
| 1 | ZNF217-V739I | homozygous | 0.170 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 1 | GNGT2-Q17R | homozygous | 0.023 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.999 (probably damaging) |
| 1 | PADI6-V343Shift | homozygous | 0.016 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Frameshift |
| 1 | SLC22A4-I306T | homozygous | 0.588 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: 0.001 (benign) |
| 1 | SLC22A4-L503F | homozygous | 0.142 | Unknown pharmacogenetic | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown |
| 1 | ZNF761-L47Shift | homozygous | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Frameshift | |
| 1 | ZNF761-I122S | het unknown | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: Unknown | |
| 1 | ZNF761-V168I | het unknown | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: Unknown | |
| 1 | ZNF761-R401H | het unknown | Unknown | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: Unknown | |
| 1 | ZNF761-G528S | het unknown | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: Unknown | |
| 1 | ZNF761-E603Q | het unknown | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: Unknown | |
| 1 | ZNF480-C3Shift | homozygous | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Frameshift | |
| 1 | CYP1B1-V432L | homozygous | 0.547 | Unknown pharmacogenetic | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 1 | CYP1B1-A119S | het unknown | 0.080 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 1 | CYP1B1-R48G | het unknown | 0.360 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 1 | FUT2-W154* | homozygous | 0.364 | Unknown pharmacogenetic | Insufficiently evaluated | Prioritization score: 2 Nonsense mutation |
| 1 | FUT2-G258S | homozygous | 0.390 | Unknown pharmacogenetic | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: 0.954 (probably damaging) |
| 1 | MSH6-G39E | het unknown | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 4 Polyphen 2: 0.873 (probably damaging), Testable gene in GeneTests with associated GeneReview | |
| 1 | KCNC3-D63G | homozygous | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview | |
| 1 | VSIG10L-Q860Shift | homozygous | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Frameshift | |
| 1 | VSIG10L-R592Q | homozygous | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: Unknown | |
| 1 | VSIG10L-M356I | homozygous | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: Unknown | |
| 1 | VSIG10L-N3T | homozygous | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: Unknown | |
| 1 | KCP-C1280G | het unknown | Unknown | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: Unknown | |
| 1 | KCP-H313Shift | homozygous | Unknown | Insufficiently evaluated | Prioritization score: 2 Frameshift | |
| 1 | KCP-E71Shift | het unknown | Unknown | Insufficiently evaluated | Prioritization score: 2 Frameshift | |
| 1 | KCP-A16Shift | homozygous | Unknown | Insufficiently evaluated | Prioritization score: 2 Frameshift | |
| 1 | CUL7-Q813R | homozygous | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview | |
| 1 | ALG12-I393V | het unknown | 0.032 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 4 Polyphen 2: 0.939 (probably damaging), Testable gene in GeneTests with associated GeneReview |
| 1 | ANKK1-A239T | het unknown | 0.320 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: 0.852 (probably damaging) |
| 1 | ANKK1-G318R | het unknown | 0.165 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: 0.006 (benign) |
| 1 | ANKK1-G442R | homozygous | 0.541 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 1 | ANKK1-H490R | het unknown | 0.210 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: 0.001 (benign) |
| 1 | ANKK1-E713K | het unknown | 0.347 | Unknown pathogenic | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown |
| 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 | het unknown | Unknown | Insufficiently evaluated | Prioritization score: 2 Frameshift | |
| 1 | AK094914-C16Shift | het unknown | Unknown | Insufficiently evaluated | Prioritization score: 2 Frameshift | |
| 1 | AK094914-A13Shift | het unknown | Unknown | Insufficiently evaluated | Prioritization score: 2 Frameshift | |
| 1 | ABCC6-M848V | homozygous | 0.954 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 1 | ABCC6-H632Q | homozygous | 0.342 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 1 | ABCC6-V614A | homozygous | 0.354 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 1 | ABCC6-S66Shift | het unknown | 0.008 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 4 Frameshift, Testable gene in GeneTests with associated GeneReview |
| 1 | ABCC6-R64Q | het unknown | Unknown | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview | |
| 1 | TIRAP-S180L | het unknown | 0.073 | Complex/Other pharmacogenetic | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown |
| 1 | SEPN1-C108Y | homozygous | 0.789 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 1 | SEPN1-N467K | homozygous | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview | |
| 1 | TOR1A-D216H | het unknown | 0.089 | Unknown protective | Low clinical importance, likely | This SNP has been shown to be benign and play a protective role against Dystonia. |
| 0.75 | NPC1-I858V | het unknown | 0.480 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.061 (benign), Testable gene in GeneTests with associated GeneReview |
| 0.75 | NPC1-M642I | het unknown | 0.863 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.75 | NPC1-H215R | het unknown | 0.222 | Complex/Other protective | Low clinical importance, likely | 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). |
| 0.75 | MAPT-GT539AA | het unknown | 0.008 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.75 | MAPT-G542Shift | het unknown | Unknown | Insufficiently evaluated | Prioritization score: 4 Frameshift, Testable gene in GeneTests with associated GeneReview | |
| 0.75 | MTHFR-E429A | het unknown | 0.243 | Unknown pharmacogenetic | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.099 (benign), Testable gene in GeneTests |
| 0.75 | MTHFR-A222V | het unknown | 0.250 | Unknown pharmacogenetic | Insufficiently evaluated | Prioritization score: 4 Polyphen 2: 0.858 (probably damaging), Testable gene in GeneTests |
| 0.625 | ALK-D1529E | het unknown | 0.606 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.625 | ALK-K1491R | het unknown | 0.405 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.009 (benign), Testable gene in GeneTests with associated GeneReview |
| 0.625 | ALK-I1461V | homozygous | 0.982 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.625 | ALK-S785Shift | het unknown | Unknown | Insufficiently evaluated | Prioritization score: 4 Frameshift, Testable gene in GeneTests with associated GeneReview | |
| 0.625 | GPR98-F1022Shift | het unknown | Unknown | Insufficiently evaluated | Prioritization score: 4 Frameshift, Testable gene in GeneTests with associated GeneReview | |
| 0.625 | GPR98-L1093F | homozygous | 0.835 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.625 | GPR98-V1951I | homozygous | 0.820 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.625 | GPR98-N1985D | homozygous | 0.259 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.005 (benign), Testable gene in GeneTests with associated GeneReview |
| 0.625 | GPR98-L2004F | homozygous | 0.341 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.841 (possibly damaging), Testable gene in GeneTests with associated GeneReview |
| 0.625 | GPR98-N2584S | homozygous | 0.825 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.625 | GPR98-G3248D | homozygous | 0.232 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: 0.961 (probably damaging), Testable gene in GeneTests with associated GeneReview |
| 0.625 | GPR98-E3471K | homozygous | 0.834 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.625 | 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 |
| 0.625 | 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 | COL1A2-P549A | homozygous | 0.907 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | RSPH3-G518D | het unknown | 0.206 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 0.5 | RSPH3-E484K | het unknown | 0.024 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: 0.563 (possibly damaging) |
| 0.5 | RSPH3-R398Q | het unknown | 0.024 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.935 (probably damaging) |
| 0.5 | RSPH3-R213Q | het unknown | 0.203 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: 0.001 (benign) |
| 0.5 | BAG3-R71Q | het unknown | 0.008 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | BAG3-P407L | het unknown | 0.150 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | LRP11-P92R | het unknown | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.988 (probably damaging) | |
| 0.5 | AK160367-D257E | homozygous | 0.676 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 0.5 | AK160367-M356V | homozygous | 0.820 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 0.5 | AK160367-V377Shift | het unknown | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Frameshift | |
| 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 | LAMA2-P564Shift | het unknown | 0.009 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 3 Frameshift, Testable gene in GeneTests |
| 0.5 | LAMA2-A2585V | homozygous | 0.594 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: Unknown, Testable gene in GeneTests |
| 0.5 | FAM26F-G80R | het unknown | 0.193 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: 0.992 (probably damaging) |
| 0.5 | FAM26F-T100A | het unknown | 0.614 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 0.5 | FAM26F-E293K | het unknown | 0.039 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.855 (probably damaging) |
| 0.5 | RSPH4A-R556H | het unknown | 0.203 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: 1.0 (probably damaging), Testable gene in GeneTests with associated GeneReview |
| 0.5 | RSPH4A-L589P | homozygous | 0.707 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | RSPH4A-N627H | het unknown | 0.125 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: 0.999 (probably damaging), Testable gene in GeneTests with associated GeneReview |
| 0.5 | ROS1-S2229C | het unknown | 0.005 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: Unknown |
| 0.5 | ROS1-K2228Q | het unknown | 0.140 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 0.5 | ROS1-D2213N | het unknown | 0.135 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: 0.003 (benign) |
| 0.5 | ROS1-R167Q | het unknown | 0.048 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.983 (probably damaging) |
| 0.5 | PON1-Q192R | homozygous | 0.572 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown |
| 0.5 | PLG-D472N | homozygous | 0.151 | Unknown pharmacogenetic | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: Unknown |
| 0.5 | CCM2-V120I | het unknown | 0.091 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.001 (benign), Testable gene in GeneTests with associated GeneReview |
| 0.5 | 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 | ABCB1-S893A | homozygous | 0.625 | Unknown pharmacogenetic | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: Unknown |
| 0.5 | TXNDC3-R43K | homozygous | 0.291 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | TXNDC3-I493T | homozygous | 0.289 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.074 (benign), Testable gene in GeneTests with associated GeneReview |
| 0.5 | NPSR1-N107I | homozygous | 0.462 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown |
| 0.5 | NPSR1-S241R | het unknown | 0.304 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: 0.019 (benign) |
| 0.5 | NPSR1-Q344R | het unknown | 0.309 | Unknown not reviewed | 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-T485K | het unknown | 0.063 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | DNAH11-V1023A | het unknown | 0.193 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 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-R3004Q | het unknown | Unknown | Insufficiently evaluated | Prioritization score: 3 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-R3587H | het unknown | Unknown | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview | |
| 0.5 | DNAH11-V3715L | homozygous | 0.452 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | DNAH11-M4172V | homozygous | 0.334 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | DNAH11-T4177I | het unknown | 0.359 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | GARS-P42A | homozygous | 0.654 | 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 | Low clinical importance, uncertain | 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. |
| 0.5 | RP1-C2033Y | homozygous | 0.186 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.957 (probably damaging), Testable gene in GeneTests |
| 0.5 | CYP3A7-R409T | homozygous | 0.669 | Unknown pharmacogenetic | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: Unknown |
| 0.5 | IKBKAP-P1158L | homozygous | 0.268 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | IKBKAP-C1072S | homozygous | 0.270 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | IKBKAP-I816L | het unknown | 0.316 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | IKBKAP-G765E | het unknown | 0.315 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | 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-R364H | homozygous | 0.968 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | COL17A1-A1435V | het unknown | Unknown | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview | |
| 0.5 | COL17A1-D1370G | het unknown | 0.257 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | COL17A1-M703V | het unknown | 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: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | ABCA1-K1587R | het unknown | 0.486 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: Unknown, Testable gene in GeneTests |
| 0.5 | ABCA1-R219K | het unknown | 0.498 | Unknown pharmacogenetic | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests |
| 0.5 | ROR2-V819I | homozygous | 0.798 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | ROR2-T245A | homozygous | 0.619 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | RECQL4-R1005Q | homozygous | 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 | homozygous | 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 | DOCK8-D63N | het unknown | 0.079 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.99 (probably damaging), Testable gene in GeneTests |
| 0.5 | DOCK8-P97T | het unknown | 0.512 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.961 (probably damaging), Testable gene in GeneTests |
| 0.5 | TOPORS-P20S | het unknown | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests | |
| 0.5 | GNE-V729VVVVV | het unknown | Unknown | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview | |
| 0.5 | GNE-V728VDVV | het unknown | Unknown | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview | |
| 0.5 | CDK5RAP2-V1540L | homozygous | 0.714 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | CDK5RAP2-E289Q | homozygous | 0.801 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | CELP-Q180* | het unknown | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Nonsense mutation | |
| 0.5 | SAMD11-P228Shift | het unknown | 0.023 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Frameshift |
| 0.5 | SAMD11-W343R | homozygous | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: Unknown | |
| 0.5 | CHAT-A120T | het unknown | 0.149 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.013 (benign), Testable gene in GeneTests with associated GeneReview |
| 0.5 | CHAT-L243F | het unknown | 0.023 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: 0.202 (possibly damaging), 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 | 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-S494N | het unknown | 0.273 | 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-V1672I | homozygous | 0.133 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | CDH23-T1996S | homozygous | 0.248 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | ANXA11-R230C | het unknown | 0.382 | Unknown pharmacogenetic | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 1.0 (probably damaging) |
| 0.5 | PTCHD3-*768Q | het unknown | 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 | het unknown | 0.498 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 0.5 | PTCHD3-D473G | het unknown | 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 | PTCHD3-L152P | het unknown | 0.225 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: 0.995 (probably damaging) |
| 0.5 | PLCE1-S469T | het unknown | 0.016 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.697 (possibly damaging), Testable gene in GeneTests |
| 0.5 | PLCE1-R548L | het unknown | 0.188 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.998 (probably damaging), Testable gene in GeneTests |
| 0.5 | PLCE1-R1575P | het unknown | 0.517 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: Unknown, Testable gene in GeneTests |
| 0.5 | PLCE1-T1777I | het unknown | 0.342 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: Unknown, Testable gene in GeneTests |
| 0.5 | PLCE1-H1927R | het unknown | 0.328 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: 0.002 (benign), Testable gene in GeneTests |
| 0.5 | FAM166A-P84L | het unknown | 0.016 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.998 (probably damaging) |
| 0.5 | PITRM1-F618L | het unknown | 0.008 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.995 (probably damaging) |
| 0.5 | NEBL-D378H | het unknown | 0.078 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: 0.995 (probably damaging) |
| 0.5 | NEBL-M351V | het unknown | 0.042 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.998 (probably damaging) |
| 0.5 | MYO3A-R319H | homozygous | 0.376 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: Unknown, Testable gene in GeneTests |
| 0.5 | MYO3A-I348V | homozygous | 0.678 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: Unknown, Testable gene in GeneTests |
| 0.5 | MYO3A-V369I | homozygous | 0.642 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: Unknown, Testable gene in GeneTests |
| 0.5 | MYO3A-A833S | het unknown | 0.049 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: 0.997 (probably damaging), Testable gene in GeneTests |
| 0.5 | MYO3A-S956N | homozygous | 0.443 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: Unknown, Testable gene in GeneTests |
| 0.5 | MYO3A-T1284S | het unknown | 0.406 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: 0.002 (benign), Testable gene in GeneTests |
| 0.5 | MYO3A-R1313S | het unknown | 0.620 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: Unknown, Testable gene in GeneTests |
| 0.5 | GPT-H14N | homozygous | 0.363 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | AK094577-C82Shift | het unknown | 0.041 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Frameshift |
| 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: 0 Polyphen 2: Unknown |
| 0.5 | HR-C397Y | het unknown | 0.042 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.928 (probably damaging) |
| 0.5 | CHRNA2-T125A | homozygous | 0.644 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | ADRB3-W64R | het unknown | 0.105 | Unknown pharmacogenetic | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown |
| 0.5 | SFRP1-L15Shift | het unknown | Unknown | Insufficiently evaluated | Prioritization score: 2 Frameshift | |
| 0.5 | SFRP1-R11Shift | het unknown | Unknown | Insufficiently evaluated | Prioritization score: 2 Frameshift | |
| 0.5 | SFRP1-R10S | het unknown | Unknown | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: Unknown | |
| 0.5 | SLC18A1-L392V | het unknown | 0.043 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.993 (probably damaging) |
| 0.5 | SLC18A1-I136T | homozygous | 0.788 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 0.5 | SLC18A1-S98T | het unknown | 0.212 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: 0.03 (benign) |
| 0.5 | SLC18A1-T4P | het unknown | 0.249 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 0.5 | FGL1-M114V | het unknown | 0.023 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.999 (probably damaging) |
| 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 | FLNC-R1567Q | het unknown | 0.074 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.676 (possibly damaging), Testable gene in GeneTests with associated GeneReview |
| 0.5 | LRGUK-M678T | het unknown | 0.018 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.881 (probably damaging) |
| 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-T533S | het unknown | Unknown | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview | |
| 0.5 | MCPH1-R171S | homozygous | 0.865 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | MCPH1-D314H | homozygous | 0.648 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 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: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | MYOF-R1399C | het unknown | 0.035 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: 0.468 (possibly damaging) |
| 0.5 | MYOF-D342N | het unknown | 0.016 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.999 (probably damaging) |
| 0.5 | BHLHE22-S28A | het unknown | 0.263 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 0.5 | BHLHE22-L62Q | het unknown | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.889 (probably damaging) | |
| 0.5 | SLC30A8-R325W | het unknown | 0.225 | Unknown pharmacogenetic | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown |
| 0.5 | TRMT12-W28R | het unknown | 0.615 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 0.5 | TRMT12-D195Shift | het unknown | 0.016 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Frameshift |
| 0.5 | TG-S734A | homozygous | 0.698 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests |
| 0.5 | TG-M1028V | homozygous | 0.696 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: 0.003 (benign), Testable gene in GeneTests |
| 0.5 | TG-D1312G | het unknown | 0.344 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: Unknown, Testable gene in GeneTests |
| 0.5 | TG-R1999W | het unknown | 0.372 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: Unknown, Testable gene in GeneTests |
| 0.5 | TG-W2501R | het unknown | 0.566 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: 0.031 (benign), Testable gene in GeneTests |
| 0.5 | TG-R2530Q | het unknown | 0.586 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: 0.003 (benign), Testable gene in GeneTests |
| 0.5 | PLEC-A3171V | het unknown | 0.039 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | PLEC-R2969H | het unknown | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview | |
| 0.5 | PLEC-S2791P | het unknown | 0.272 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | PLEC-A2194V | het unknown | 0.210 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | PLEC-LQ2173QT | het unknown | Unknown | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview | |
| 0.5 | PLEC-A2132V | het unknown | Unknown | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview | |
| 0.5 | PLEC-H1459R | het unknown | 0.512 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | PLEC-R1386Q | het unknown | 0.276 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | PLEC-A641V | het unknown | 0.210 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | NCRNA00255-P39Shift | het unknown | 0.013 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Frameshift |
| 0.5 | SLC22A16-V252A | het unknown | 0.086 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: 0.609 (possibly damaging) |
| 0.5 | SLC22A16-H49R | homozygous | 0.333 | Unknown pharmacogenetic | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: Unknown |
| 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 | CNGB3-T298P | homozygous | 0.681 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.007 (benign), Testable gene in GeneTests with associated GeneReview |
| 0.5 | CNGB3-C234W | homozygous | 0.939 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | SLC26A7-I215V | het unknown | 0.036 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.97 (probably damaging) |
| 0.5 | TM7SF4-L397F | het unknown | 0.008 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.953 (probably damaging) |
| 0.5 | PCDHB6-V446A | homozygous | 1.000 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 0.5 | PCDHB6-H636Q | het unknown | 0.617 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: 0.393 (possibly damaging) |
| 0.5 | PCDHB6-L684F | het unknown | 0.024 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.985 (probably damaging) |
| 0.5 | PCDHB6-G776D | het unknown | 0.102 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 0.5 | AIM1-E1196A | het unknown | 0.935 | Unknown pharmacogenetic | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.015 (benign) |
| 0.5 | AIM1-L1235P | het unknown | 0.023 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.919 (probably damaging) |
| 0.5 | AIM1-C1395Y | het unknown | 0.243 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: 0.958 (probably damaging) |
| 0.5 | ATP6V1B1-M1T | het unknown | 0.371 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: Unknown, Testable gene in GeneTests |
| 0.5 | ATP6V1B1-A272V | het unknown | 0.016 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests |
| 0.5 | ALMS1-R392C | het unknown | 0.409 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | ALMS1-S524SP | het unknown | 0.578 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | 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: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | ALMS1-G1414A | het unknown | 0.328 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | ALMS1-I1875V | het unknown | 0.405 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | ALMS1-S2111R | het unknown | 0.327 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | ALMS1-R2284P | het unknown | 0.328 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | ALMS1-R2826S | het unknown | 0.404 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | ALMS1-N2856S | het unknown | 0.372 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | ALMS1-R4029K | het unknown | 0.527 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | THNSL2-G41E | homozygous | 0.866 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 0.5 | THNSL2-D78N | het unknown | 0.008 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.862 (probably damaging) |
| 0.5 | TEKT4-V340I | het unknown | 0.083 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: 0.661 (possibly damaging) |
| 0.5 | TEKT4-R344L | het unknown | Unknown | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: Unknown | |
| 0.5 | TEKT4-S349L | het unknown | 0.014 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.886 (probably damaging) |
| 0.5 | TEKT4-R351W | het unknown | 0.011 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 1.0 (probably damaging) |
| 0.5 | XDH-I703V | het unknown | 0.082 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: 0.336 (possibly damaging), Testable gene in GeneTests |
| 0.5 | XDH-I646V | het unknown | 0.039 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests |
| 0.5 | HADHB-T2TT | het unknown | 0.008 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests |
| 0.5 | EDARADD-M9I | homozygous | 0.726 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | OR2T3-Y109H | het unknown | 0.027 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.999 (probably damaging) |
| 0.5 | TPO-A373S | homozygous | 0.188 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: 0.001 (benign), Testable gene in GeneTests |
| 0.5 | TPO-S398T | homozygous | 0.684 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.988 (probably damaging), Testable gene in GeneTests |
| 0.5 | TPO-V847A | het unknown | 0.674 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: 0.001 (benign), Testable gene in GeneTests |
| 0.5 | APOB-S4338N | homozygous | 0.725 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: Unknown, Testable gene in GeneTests |
| 0.5 | APOB-E4181K | het unknown | 0.121 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: Unknown, Testable gene in GeneTests |
| 0.5 | APOB-R3638Q | het unknown | 0.038 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests |
| 0.5 | APOB-I2313V | het unknown | 0.964 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: Unknown, Testable gene in GeneTests |
| 0.5 | APOB-Y1422C | homozygous | 0.994 | Unknown benign | Low clinical importance, uncertain | This position is almost certainly an error in the HG18 reference sequence. |
| 0.5 | APOB-A618V | het unknown | 0.494 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: Unknown, Testable gene in GeneTests |
| 0.5 | APOB-T98I | het unknown | 0.149 | Unknown pharmacogenetic | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests |
| 0.5 | RANBP2-D77E | het unknown | Unknown | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests | |
| 0.5 | RANBP2-E580K | het unknown | Unknown | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests | |
| 0.5 | RANBP2-T2492A | het unknown | Unknown | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests | |
| 0.5 | RANBP2-P2505T | het unknown | Unknown | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests | |
| 0.5 | BC139742-S188N | homozygous | Unknown | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: Unknown | |
| 0.5 | BC139742-V731I | homozygous | Unknown | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: Unknown | |
| 0.5 | BC139742-E818Shift | het unknown | Unknown | Insufficiently evaluated | Prioritization score: 2 Frameshift | |
| 0.5 | BC139742-R820Shift | het unknown | Unknown | Insufficiently evaluated | Prioritization score: 2 Frameshift | |
| 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 | het unknown | 0.504 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | COL4A4-V1327M | het unknown | 0.464 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | COL4A4-P1004L | 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 | homozygous | 0.493 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | COL4A3-L141P | homozygous | 0.760 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | COL4A3-E162G | homozygous | 0.764 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | COL4A3-D326Y | het unknown | 0.203 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | COL4A3-P574L | het unknown | 0.358 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | AGXT-P11L | het unknown | 0.142 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: 0.997 (probably damaging), Testable gene in GeneTests with associated GeneReview |
| 0.5 | AGXT-I340M | het unknown | 0.096 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | ABCA12-S777T | homozygous | 1.000 | 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: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | ABCB11-V444A | homozygous | 0.606 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.002 (benign), Testable gene in GeneTests with associated GeneReview |
| 0.5 | LRP2-G4417D | het unknown | Unknown | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: Unknown | |
| 0.5 | LRP2-I4210L | homozygous | 0.462 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 1 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-N3205D | het unknown | Unknown | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: Unknown | |
| 0.5 | DFNB59-R265C | het unknown | 0.045 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: 0.962 (probably damaging), Testable gene in GeneTests |
| 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 | AGT-M268T | homozygous | 0.733 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | AGT-T207M | het unknown | 0.093 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: 0.992 (probably damaging), Testable gene in GeneTests with associated GeneReview |
| 0.5 | RRP15-S272Shift | het unknown | 0.008 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Frameshift |
| 0.5 | CNKSR1-R265V | het unknown | Unknown | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: Unknown | |
| 0.5 | CNKSR1-P284Shift | het unknown | 0.016 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Frameshift |
| 0.5 | FAAH-P129T | het unknown | 0.237 | Unknown pharmacogenetic | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.001 (benign) |
| 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 | DPYD-R29C | homozygous | 0.731 | Complex/Other pharmacogenetic | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: Unknown, Testable gene in GeneTests |
| 0.5 | RNF186-E139Q | het unknown | 0.048 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.902 (probably damaging) |
| 0.5 | RNF186-A23T | het unknown | 0.300 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: 0.385 (possibly damaging) |
| 0.5 | PADI4-G55S | het unknown | 0.528 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 0.5 | PADI4-V82A | het unknown | 0.540 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 0.5 | PADI4-G112A | het unknown | 0.512 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: 0.077 (benign) |
| 0.5 | PADI4-R131T | het unknown | 0.002 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: 0.065 (benign) |
| 0.5 | PADI4-Y309C | het unknown | 0.008 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.988 (probably damaging) |
| 0.5 | RNF207-N573S | het unknown | 0.474 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 0.5 | RNF207-G603A | het unknown | 0.165 | Unknown pharmacogenetic | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.006 (benign) |
| 0.5 | MASP2-R439H | het unknown | 0.059 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: Unknown, Testable gene in GeneTests |
| 0.5 | MASP2-D371Y | het unknown | 0.512 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: Unknown, Testable gene in GeneTests |
| 0.5 | MASP2-P126L | het unknown | 0.023 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests |
| 0.5 | MASP2-D120G | het unknown | 0.016 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests |
| 0.5 | TNFRSF1B-M196R | het unknown | 0.206 | Unknown pharmacogenetic | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.986 (probably damaging) |
| 0.5 | ARHGEF19-P460L | het unknown | 0.023 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.998 (probably damaging) |
| 0.5 | DBT-S384G | homozygous | 0.869 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | PDE4DIP-D1910E | het unknown | 0.500 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 0.5 | PDE4DIP-R1867C | het unknown | 0.500 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: 0.999 (probably damaging) |
| 0.5 | PDE4DIP-A1757T | het unknown | 0.500 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: 0.002 (benign) |
| 0.5 | PDE4DIP-P1726PP | het unknown | Unknown | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: Unknown | |
| 0.5 | PDE4DIP-Q1665Shift | het unknown | 0.328 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 1 Frameshift |
| 0.5 | PDE4DIP-R1504Q | het unknown | 0.904 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 0.5 | PDE4DIP-R1466G | het unknown | 0.016 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.971 (probably damaging) |
| 0.5 | PDE4DIP-W1396R | het unknown | 0.667 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 0.5 | PDE4DIP-K1359E | het unknown | 0.500 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: 0.028 (benign) |
| 0.5 | PDE4DIP-A1066T | het unknown | 0.500 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: 0.123 (benign) |
| 0.5 | PDE4DIP-F1013I | het unknown | 0.500 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 0.5 | PDE4DIP-C708R | het unknown | 0.900 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: 0.001 (benign) |
| 0.5 | PDE4DIP-R681H | het unknown | 0.282 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: 0.997 (probably damaging) |
| 0.5 | PDE4DIP-R622* | het unknown | 0.500 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 1 Nonsense mutation |
| 0.5 | PDE4DIP-W560* | het unknown | 0.269 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 1 Nonsense mutation |
| 0.5 | PDE4DIP-S536T | het unknown | 0.500 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: 0.914 (probably damaging) |
| 0.5 | PDE4DIP-E410V | het unknown | 0.500 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: 0.995 (probably damaging) |
| 0.5 | PDE4DIP-R295H | het unknown | 0.254 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: 0.003 (benign) |
| 0.5 | PDE4DIP-S275L | het unknown | 0.500 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: 0.419 (possibly damaging) |
| 0.5 | PDE4DIP-R25L | het unknown | 0.500 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: 1.0 (probably damaging) |
| 0.5 | ASPM-R2690W | het unknown | 0.008 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 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: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | ASPM-Y2494H | homozygous | 0.992 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | CACNA1S-A69G | het unknown | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview | |
| 0.5 | CHIT1-V357V* | het unknown | 0.016 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Nonsense mutation, Testable gene in GeneTests |
| 0.5 | CHIT1-R40H | het unknown | 0.031 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.523 (possibly damaging), Testable gene in GeneTests |
| 0.5 | USH2A-I2169T | het unknown | 0.575 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 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: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | USH2A-R1486K | homozygous | 0.646 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.063 (benign), Testable gene in GeneTests with associated GeneReview |
| 0.5 | USH2A-A125T | homozygous | 0.777 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | CFHR1-A296V | het unknown | 0.029 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | DARS2-G338E | het unknown | 0.016 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.091 (benign), Testable gene in GeneTests with associated GeneReview |
| 0.5 | TDRKH-G257A | het unknown | 0.031 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.937 (probably damaging) |
| 0.5 | IL6R-D358A | het unknown | 0.266 | Unknown pharmacogenetic | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: 0.911 (probably damaging) |
| 0.5 | RHBG-G76D | het unknown | 0.236 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 0.5 | RHBG-G315R | het unknown | 0.550 | 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 | FCGR3A-F212V | homozygous | 0.818 | Unknown pharmacogenetic | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: Unknown |
| 0.5 | AIM2-E32K | het unknown | 0.047 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.973 (probably damaging) |
| 0.5 | ANO7-D70N | het unknown | 0.016 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.955 (probably damaging) |
| 0.5 | ANO7-E912K | het unknown | 0.169 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 0.5 | XPC-Q939K | homozygous | 0.683 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | XPC-A499V | het unknown | 0.188 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | TSPAN17-I140T | het unknown | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.945 (probably damaging) | |
| 0.5 | PROP1-A142T | het unknown | 0.206 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 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 | DCDC2-S221G | het unknown | 0.447 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 0.5 | DCDC2-P152A | het unknown | 0.031 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.999 (probably damaging) |
| 0.5 | ALDH5A1-G36R | het unknown | Unknown | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview | |
| 0.5 | ALDH5A1-H180Y | homozygous | 0.334 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | ALDH5A1-P182L | het unknown | 0.023 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | KIF4B-R580L | homozygous | 0.685 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 0.5 | KIF4B-R680H | het unknown | 0.176 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: 0.999 (probably damaging) |
| 0.5 | KIF4B-V755I | het unknown | 0.094 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: 0.877 (probably damaging) |
| 0.5 | KIF4B-I834Shift | het unknown | 0.041 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Frameshift |
| 0.5 | KIF4B-R1029H | het unknown | 0.119 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: 0.043 (benign) |
| 0.5 | SLC26A2-I574T | homozygous | 0.994 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | SLC26A2-T689S | het unknown | 0.163 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | SRA1-V110RL | homozygous | 0.360 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | AX746964-G175Shift | het unknown | 0.034 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Frameshift |
| 0.5 | AX746964-K166I | het unknown | 0.628 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 0.5 | H19-G355R | homozygous | 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 | ADRB2-G16R | het unknown | 0.477 | Unknown pharmacogenetic | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.001 (benign), Testable gene in GeneTests |
| 0.5 | ADRB2-E27Q | het unknown | 0.773 | Unknown pharmacogenetic | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.001 (benign), Testable gene in GeneTests |
| 0.5 | HLA-C-T363A | homozygous | 0.727 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 0.5 | HLA-C-C350S | homozygous | 0.730 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: 0.009 (benign) |
| 0.5 | HLA-C-VTAM328MAVV | homozygous | 0.204 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 0.5 | HLA-C-V319A | homozygous | 0.706 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 0.5 | HLA-C-S297R | homozygous | 0.605 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 0.5 | HLA-C-M285V | homozygous | 0.712 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 0.5 | HLA-C-Q277E | homozygous | 0.769 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 0.5 | HLA-C-L218V | homozygous | 0.605 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 0.5 | HLA-C-P208H | homozygous | 0.588 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 0.5 | HLA-C-E201K | het unknown | 0.064 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 0.5 | HLA-C-A176E | homozygous | 0.375 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 0.5 | HLA-C-R155S | het unknown | 0.009 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.995 (probably damaging) |
| 0.5 | HLA-C-D138N | het unknown | 0.184 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 0.5 | HLA-C-L127V | het unknown | 0.152 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 0.5 | HLA-C-S123Y | homozygous | 0.965 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 0.5 | HLA-C-R121W | het unknown | 0.105 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: 0.014 (benign) |
| 0.5 | HLA-C-D114A | het unknown | 0.412 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 0.5 | HLA-C-N104K | het unknown | 0.404 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: 0.09 (benign) |
| 0.5 | HLA-C-S101N | het unknown | 0.333 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 0.5 | HLA-C-A97T | het unknown | 0.447 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 0.5 | HLA-C-R59Q | het unknown | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: 0.045 (benign) | |
| 0.5 | HLA-C-S48A | het unknown | 0.851 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 0.5 | HLA-C-D33Y | het unknown | 0.544 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: 0.001 (benign) |
| 0.5 | HSPA1L-E602K | het unknown | 0.225 | Unknown pharmacogenetic | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: 0.001 (benign) |
| 0.5 | HSPA1L-T493M | homozygous | 0.868 | Unknown pharmacogenetic | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: 0.001 (benign) |
| 0.5 | PKHD1-Q4048R | het unknown | 0.566 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 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: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | PKHD1-L1870V | homozygous | 0.905 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | PKHD1-A1262V | het unknown | 0.239 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 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: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | PKHD1-R760C | het unknown | 0.318 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | EYS-S2556C | het unknown | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests | |
| 0.5 | EYS-R2326Q | het unknown | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests | |
| 0.5 | EYS-L1873V | het unknown | 0.081 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: Unknown, Testable gene in GeneTests |
| 0.5 | EYS-S1517G | het unknown | 0.099 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: Unknown, Testable gene in GeneTests |
| 0.5 | EYS-R1515W | het unknown | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests | |
| 0.5 | EYS-I1451T | het unknown | 0.099 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: Unknown, Testable gene in GeneTests |
| 0.5 | EYS-L1419S | het unknown | 0.780 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: Unknown, Testable gene in GeneTests |
| 0.5 | EYS-I1361V | het unknown | 0.098 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: Unknown, Testable gene in GeneTests |
| 0.5 | EYS-Q1325E | het unknown | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests | |
| 0.5 | EYS-I1263V | het unknown | 0.098 | 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 | EYS-G631S | het unknown | 0.596 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: Unknown, Testable gene in GeneTests |
| 0.5 | LCA5-G656D | het unknown | 0.377 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | LCA5-L24S | homozygous | 0.904 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.001 (benign), Testable gene in GeneTests with associated GeneReview |
| 0.5 | CASP8AP2-T1567Shift | het unknown | Unknown | Insufficiently evaluated | Prioritization score: 2 Frameshift | |
| 0.5 | CASP8AP2-S1568Shift | het unknown | Unknown | Insufficiently evaluated | Prioritization score: 2 Frameshift | |
| 0.5 | ENPP5-I171V | het unknown | 0.384 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: 0.139 (benign) |
| 0.5 | ENPP5-R39P | het unknown | 0.008 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 1.0 (probably damaging) |
| 0.5 | ENPP5-L6I | het unknown | 0.384 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: 0.002 (benign) |
| 0.5 | TREML2-S144G | het unknown | 0.308 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: 0.831 (possibly damaging) |
| 0.5 | TREML2-T129S | het unknown | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.96 (probably damaging) | |
| 0.5 | TNXB-P2947T | het unknown | 0.032 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 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: 3 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | TNXB-G1140D | het unknown | 0.031 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | HLA-DQA1-L8M | het unknown | 0.457 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | HLA-DQA1-A11T | het unknown | 0.085 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | HLA-DQA1-C34Y | het unknown | 0.547 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | HLA-DQA1-F41S | het unknown | 0.544 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | HLA-DQA1-RW70CL | het unknown | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview | |
| 0.5 | HLA-DQA1-G84F | het unknown | 0.122 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | HLA-DQA1-A92L | het unknown | 0.151 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | HLA-DQA1-IM98SL | het unknown | 0.066 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | HLA-DQA1-T130I | het unknown | 0.151 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | HLA-DQA1-Q152H | het unknown | 0.526 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | HLA-DQA1-M230V | homozygous | 0.782 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | COL11A2-P894L | het unknown | 0.088 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: 0.996 (probably damaging), Testable gene in GeneTests with associated GeneReview |
| 0.5 | BRPF3-E1075K | het unknown | 0.016 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.912 (probably damaging) |
| 0.5 | ALDH7A1-K439Q | het unknown | 0.072 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, 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 | 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 | HGD-Q80H | homozygous | 0.742 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | RHO-G324F | het unknown | Unknown | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests | |
| 0.5 | RHO-K325Shift | het unknown | Unknown | Insufficiently evaluated | Prioritization score: 3 Frameshift, Testable gene in GeneTests | |
| 0.5 | ALG3-F200S | het unknown | 0.025 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.153 (benign), Testable gene in GeneTests with associated GeneReview |
| 0.5 | NR_015394-T113Shift | het unknown | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Frameshift | |
| 0.5 | GBE1-T507A | het unknown | 0.084 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | GBE1-I334V | homozygous | 0.979 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | BTD-P391S | het unknown | 0.016 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | GLB1-C521R | homozygous | 0.870 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: Unknown, Testable gene in GeneTests |
| 0.5 | GLB1-R109W | het unknown | 0.016 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests |
| 0.5 | GLB1-P10L | homozygous | 0.391 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: Unknown, Testable gene in GeneTests |
| 0.5 | CCBP2-V41A | het unknown | 0.031 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.97 (probably damaging) |
| 0.5 | CCRL2-Y4C | het unknown | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.997 (probably damaging) | |
| 0.5 | CCRL2-F167Y | het unknown | 0.320 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: 0.955 (probably damaging) |
| 0.5 | CCRL2-I243V | het unknown | 0.070 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: 0.206 (possibly damaging) |
| 0.5 | CCDC50-L121F | het unknown | 0.023 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.834 (possibly damaging), Testable gene in GeneTests |
| 0.5 | CCDC50-M332T | het unknown | 0.661 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: Unknown, Testable gene in GeneTests |
| 0.5 | CCDC50-R466W | het unknown | Unknown | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests | |
| 0.5 | HTT-T1720N | het unknown | 0.263 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | HTT-Y2309H | homozygous | 0.459 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | HTT-V2786I | het unknown | 0.193 | Unknown pharmacogenetic | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | SDHA-D38V | het unknown | 0.008 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests |
| 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-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 | AP3B1-V585E | homozygous | 0.806 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.002 (benign), Testable gene in GeneTests with associated GeneReview |
| 0.5 | VCAN-K1516R | homozygous | 0.480 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | VCAN-R1826H | homozygous | 0.349 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.002 (benign), Testable gene in GeneTests with associated GeneReview |
| 0.5 | VCAN-F2301Y | homozygous | 0.462 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | VCAN-D2937Y | homozygous | 0.352 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.11 (benign), Testable gene in GeneTests with associated GeneReview |
| 0.5 | CFI-T300A | homozygous | 0.957 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | HADH-L86P | homozygous | 0.859 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | TLR1-S602I | homozygous | 0.727 | Unknown pharmacogenetic | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: Unknown |
| 0.5 | TLR6-S249P | homozygous | 0.855 | Unknown pharmacogenetic | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: Unknown |
| 0.5 | UGT2B7-Y268H | homozygous | 0.727 | Unknown pharmacogenetic | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: Unknown |
| 0.5 | PKD2-R28P | het unknown | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: 0.62 (possibly damaging), Testable gene in GeneTests with associated GeneReview | |
| 0.5 | CCDC158-R134Q | het unknown | 0.008 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.997 (probably damaging) |
| 0.5 | RET-G691S | homozygous | 0.167 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.16 (benign), Testable gene in GeneTests with associated GeneReview |
| 0.5 | SALL4-L507R | homozygous | 0.328 | Dominant not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.125 (benign), Testable gene in GeneTests with associated GeneReview |
| 0.5 | SALL1-V1275I | homozygous | 0.983 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | GPR56-S281R | homozygous | 0.750 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | GPR56-Q306H | het unknown | 0.094 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 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-C413F | het unknown | Unknown not reviewed | 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 | CD19-L174V | homozygous | 0.876 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | ATXN2L-M802Shift | het unknown | 0.008 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Frameshift |
| 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 | PPP6R1-R663Q | het unknown | 0.008 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.996 (probably damaging) |
| 0.5 | ACSM3-L100P | het unknown | 0.005 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.995 (probably damaging) |
| 0.5 | ZNF528-G443A | het unknown | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.969 (probably damaging) | |
| 0.5 | FPR1-E346A | het unknown | 0.800 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 0.5 | FPR1-N192K | het unknown | 0.516 | 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-I11T | homozygous | 0.831 | Unknown pharmacogenetic | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: Unknown |
| 0.5 | HSD17B14-R130W | het unknown | 0.016 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 1.0 (probably damaging) |
| 0.5 | ZNF224-M118V | homozygous | 0.793 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 0.5 | ZNF224-H162L | homozygous | 0.780 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: 0.262 (possibly damaging) |
| 0.5 | ZNF224-K640E | homozygous | 0.593 | Unknown pharmacogenetic | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: Unknown |
| 0.5 | CTNS-S39L | het unknown | Unknown | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview | |
| 0.5 | CTNS-T260I | homozygous | 0.825 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | AIPL1-D90H | homozygous | 0.210 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.029 (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 | LRRC50-K393R | het unknown | 0.321 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.683 (possibly damaging), Testable gene in GeneTests with associated GeneReview |
| 0.5 | LRRC50-P502L | het unknown | 0.272 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.005 (benign), Testable gene in GeneTests with associated GeneReview |
| 0.5 | LRRC50-L633S | homozygous | 0.261 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | LRRC50-L659P | homozygous | 0.352 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | LRRC50-S675T | homozygous | 0.363 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.001 (benign), Testable gene in GeneTests with associated GeneReview |
| 0.5 | 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 | SYMPK-P995L | het unknown | 0.017 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 1.0 (probably damaging) |
| 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: 3 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 | PLCG2-R268W | het unknown | 0.033 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.95 (probably damaging) |
| 0.5 | ZNF587-E189A | het unknown | 0.025 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.986 (probably damaging) |
| 0.5 | PKD1-D3239H | het unknown | Unknown | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview | |
| 0.5 | PKD1-R2200C | het unknown | Unknown | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview | |
| 0.5 | PKD1-W1399R | het unknown | 0.025 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.031 (benign), Testable gene in GeneTests with associated GeneReview |
| 0.5 | PKD1-M1092T | het unknown | 0.081 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.002 (benign), Testable gene in GeneTests with associated GeneReview |
| 0.5 | PKD1-A234S | het unknown | Unknown | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview | |
| 0.5 | ZNF609-N1240Y | het unknown | Unknown | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: Unknown | |
| 0.5 | ZNF609-H1241D | het unknown | 0.016 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.999 (probably damaging) |
| 0.5 | SLC24A1-T37S | het unknown | 0.322 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 0.5 | SLC24A1-S332Shift | het unknown | 0.019 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Frameshift |
| 0.5 | NR2E3-T318Shift | homozygous | 1.000 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Frameshift, Testable gene in GeneTests |
| 0.5 | BPIL1-D359H | het unknown | 0.008 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.924 (probably damaging) |
| 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 | ZFYVE19-R48Shift | het unknown | 0.008 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Frameshift |
| 0.5 | ZFYVE19-S376A | het unknown | 0.814 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: 0.001 (benign) |
| 0.5 | WFDC3-R63L | het unknown | 0.022 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.998 (probably damaging) |
| 0.5 | WFDC3-H36D | het unknown | 0.670 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: 0.207 (possibly damaging) |
| 0.5 | STRC-Q84R | homozygous | 1.000 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | SLC28A2-P22L | homozygous | 0.248 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 0.5 | SLC28A2-S75R | homozygous | 0.253 | Unknown pharmacogenetic | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: Unknown |
| 0.5 | HEXA-I436V | homozygous | 0.748 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | CD226-S307G | het unknown | 0.423 | Unknown pharmacogenetic | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown |
| 0.5 | FANCI-A86V | het unknown | 0.219 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | FANCI-C742S | het unknown | 0.234 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | FANCI-I877L | het unknown | 0.086 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | DEFB126-Q55Shift | het unknown | 0.016 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Frameshift |
| 0.5 | DEFB126-P106Shift | het unknown | 0.023 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Frameshift |
| 0.5 | GFER-F166L | het unknown | 0.035 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests |
| 0.5 | PANK2-G126A | homozygous | 0.917 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | SLC28A1-V189I | het unknown | 0.313 | Unknown pharmacogenetic | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: Unknown |
| 0.5 | SLC28A1-Q237K | het unknown | 0.241 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 0.5 | SLC28A1-D521N | homozygous | 0.226 | Unknown pharmacogenetic | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: Unknown |
| 0.5 | BBS4-I354T | homozygous | 0.399 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | LOXL1-G153D | het unknown | 0.269 | Unknown pharmacogenetic | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.135 (benign) |
| 0.5 | CYP1A1-T461N | het unknown | 0.008 | Unknown pharmacogenetic | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: 0.001 (benign) |
| 0.5 | KIAA1024-N258H | het unknown | 0.016 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.914 (probably damaging) |
| 0.5 | BCKDHA-P39H | het unknown | 0.024 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | TGFB1-P10L | homozygous | 1.000 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | RNF157-S424Shift | het unknown | Unknown | Insufficiently evaluated | Prioritization score: 2 Frameshift | |
| 0.5 | RNF157-G208R | het unknown | 0.027 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.859 (probably damaging) |
| 0.5 | ADAMTS10-H1101Q | homozygous | 1.000 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | ADAMTS10-T134S | het unknown | 0.910 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.001 (benign), Testable gene in GeneTests with associated GeneReview |
| 0.5 | SEPT9-P145L | het unknown | 0.078 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: 0.926 (probably damaging), Testable gene in GeneTests with associated GeneReview |
| 0.5 | TSPAN16-S233Shift | het unknown | 0.016 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Frameshift |
| 0.5 | CCDC151-F58S | het unknown | 0.016 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.952 (probably damaging) |
| 0.5 | DNAI2-A558T | homozygous | 0.674 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 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 | MIF4GD-Q126Shift | het unknown | 0.016 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Frameshift |
| 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 | STXBP2-I526V | homozygous | 0.725 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | SLC38A10-I1072Del | het unknown | Unknown | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: Unknown | |
| 0.5 | SLC38A10-A831G | het unknown | 0.543 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: 0.101 (benign) |
| 0.5 | SLC38A10-I136V | het unknown | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.853 (probably damaging) | |
| 0.5 | ATP8B1-A1152T | homozygous | 0.998 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | ATP8B1-R952Q | het unknown | 0.052 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: 0.999 (probably damaging), Testable gene in GeneTests with associated GeneReview |
| 0.5 | TNFRSF11A-H141Y | het unknown | 0.027 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: 0.909 (probably damaging), Testable gene in GeneTests |
| 0.5 | TNFRSF11A-A192V | het unknown | 0.625 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: Unknown, Testable gene in GeneTests |
| 0.5 | CTDP1-S61A | het unknown | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview | |
| 0.5 | CTDP1-T340M | het unknown | 0.085 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.006 (benign), Testable gene in GeneTests with associated GeneReview |
| 0.5 | ZFR2-A577T | homozygous | 0.391 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: 0.005 (benign) |
| 0.5 | ZFR2-P235L | homozygous | 0.009 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: 0.005 (benign) |
| 0.5 | ZFR2-V210L | homozygous | 0.389 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: 0.55 (possibly damaging) |
| 0.5 | ZFR2-S164L | homozygous | 0.387 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: 0.011 (benign) |
| 0.5 | ZFR2-G58S | het unknown | 0.047 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.933 (probably damaging) |
| 0.5 | MYO5B-L1055LL | het unknown | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests | |
| 0.5 | MYO5B-T126A | homozygous | 0.945 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: Unknown, Testable gene in GeneTests |
| 0.5 | LAMA3-P17G | het unknown | Unknown | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview | |
| 0.5 | LAMA3-N2815K | het unknown | 0.130 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 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 | DSG2-E713K | het unknown | 0.039 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.137 (benign), Testable gene in GeneTests with associated GeneReview |
| 0.5 | DSG2-R773K | het unknown | 0.221 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.003 (benign), Testable gene in GeneTests with associated GeneReview |
| 0.5 | MPND-P423L | het unknown | 0.016 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.999 (probably damaging) |
| 0.5 | KIAA1632-S1083L | het unknown | 0.008 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.995 (probably damaging) |
| 0.5 | KIAA1632-V1058A | het unknown | 0.451 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: 0.439 (possibly damaging) |
| 0.5 | KIAA1632-E844D | het unknown | 0.079 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: 0.001 (benign) |
| 0.5 | COG1-N392S | homozygous | 0.536 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | SCN4A-N1376D | het unknown | 0.604 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | SCN4A-S524G | homozygous | 0.938 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | FAM187B-W231* | het unknown | 0.016 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Nonsense mutation |
| 0.5 | FAM187B-V216I | het unknown | 0.177 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: 0.001 (benign) |
| 0.5 | FAM187B-W188* | het unknown | 0.277 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 1 Nonsense mutation |
| 0.5 | FAM187B-C160R | homozygous | 0.462 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 0.5 | FAM187B-P3S | het unknown | 0.154 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: 0.076 (benign) |
| 0.5 | FXYD3-K60R | het unknown | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.901 (probably damaging) | |
| 0.5 | ETV4-R437C | het unknown | 0.010 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 1.0 (probably damaging) |
| 0.5 | KRT14-A413T | het unknown | 0.024 | Dominant benign | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.008 (benign), 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 | KRT14-T45I | het unknown | Unknown | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview | |
| 0.5 | TH-V108M | homozygous | 0.416 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | MYH8-R1784G | het unknown | 0.008 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: 1.0 (probably damaging), Testable gene in GeneTests |
| 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 | MYH2-V970I | het unknown | 0.008 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.315 (possibly damaging), Testable gene in GeneTests |
| 0.5 | PRX-G1132R | homozygous | 0.978 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | LRFN1-G711Shift | het unknown | 0.010 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Frameshift |
| 0.5 | SOST-V10I | het unknown | 0.008 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.008 (benign), Testable gene in GeneTests with associated GeneReview |
| 0.5 | NPEPPS-M241T | het unknown | 0.040 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 1.0 (probably damaging) |
| 0.5 | AP1S2-T35A | het unknown | Unknown | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests | |
| 0.5 | AP1S2-R29P | het unknown | Unknown | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests | |
| 0.5 | FAM125A-D249N | het unknown | 0.039 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.997 (probably damaging) |
| 0.5 | PGLYRP2-H464Y | het unknown | 0.016 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.998 (probably damaging) |
| 0.5 | SEPT4-E311V | het unknown | 0.047 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.856 (probably damaging) |
| 0.5 | NUDT19-R142Q | het unknown | 0.019 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.999 (probably damaging) |
| 0.5 | GRAMD1A-R448W | het unknown | 0.024 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.987 (probably damaging) |
| 0.5 | COL1A1-T1075A | homozygous | 0.961 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | ZNF792-N425D | het unknown | 0.037 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.968 (probably damaging) |
| 0.5 | ZNF792-R177Q | het unknown | 0.715 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 0.5 | MTMR4-L307Shift | het unknown | 0.011 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Frameshift |
| 0.5 | MTMR4-S280G | het unknown | 0.332 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 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 | TEP1-R1772Q | het unknown | 0.008 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | TRAFD1-E303A | het unknown | 0.016 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.998 (probably damaging) |
| 0.5 | SLC24A6-LL561I | het unknown | Unknown | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: Unknown | |
| 0.5 | SLC24A6-C559Y | het unknown | 0.025 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.942 (probably damaging) |
| 0.5 | SH2B3-W262R | het unknown | 0.768 | Unknown pharmacogenetic | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown |
| 0.5 | ARSE-G424S | homozygous | 0.543 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.003 (benign), Testable gene in GeneTests with associated GeneReview |
| 0.5 | KIAA0748-R19H | het unknown | 0.039 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.99 (probably damaging) |
| 0.5 | MEN1-T546A | homozygous | 0.791 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | MMAB-M239K | homozygous | 0.469 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | MMAB-R19Q | het unknown | 0.283 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | HPS4-Q620H | homozygous | 0.806 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: 0.859 (probably damaging), Testable gene in GeneTests with associated GeneReview |
| 0.5 | HPS4-H601Y | homozygous | 0.807 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | HPS4-V547M | homozygous | 0.780 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | HPS4-E224G | homozygous | 0.779 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | HNF1A-I27L | het unknown | 0.311 | Unknown pharmacogenetic | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests |
| 0.5 | HNF1A-S487N | het unknown | 0.301 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: Unknown, Testable gene in GeneTests |
| 0.5 | HNF1A-S574G | homozygous | 0.976 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: Unknown, Testable gene in GeneTests |
| 0.5 | FARP1-H644Y | het unknown | 0.016 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.999 (probably damaging) |
| 0.5 | SLC16A2-S107P | homozygous | 0.444 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | DMD-R2937Q | homozygous | 0.899 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 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 | KAL1-V534I | homozygous | 0.543 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | PRODH-R521Q | homozygous | 0.887 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: Unknown, Testable gene in GeneTests |
| 0.5 | PRODH-A472T | het unknown | 0.017 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests |
| 0.5 | PRODH-W185R | het unknown | 0.826 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: Unknown, Testable gene in GeneTests |
| 0.5 | PRODH-P19Q | het unknown | 0.562 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: Unknown, Testable gene in GeneTests |
| 0.5 | KNTC1-K245N | het unknown | 0.158 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: 0.289 (possibly damaging) |
| 0.5 | KNTC1-V2021G | het unknown | 0.044 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.992 (probably damaging) |
| 0.5 | ASMTL-H528R | het unknown | 0.032 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.999 (probably damaging) |
| 0.5 | ASMTL-V458M | het unknown | 0.214 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: 0.098 (benign) |
| 0.5 | ASMTL-G434S | het unknown | 0.153 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 0.5 | ASMTL-Y364H | het unknown | 0.092 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: 0.014 (benign) |
| 0.5 | ASMTL-S228P | het unknown | 0.092 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: 0.003 (benign) |
| 0.5 | RIN1-R238Q | het unknown | 0.016 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.869 (probably damaging) |
| 0.5 | RIN1-A79T | het unknown | 0.025 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.96 (probably damaging) |
| 0.5 | VWF-F2561Y | het unknown | 0.039 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: 0.293 (possibly damaging), Testable gene in GeneTests with associated GeneReview |
| 0.5 | VWF-T1381A | het unknown | 0.754 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | VWF-Q852R | het unknown | 0.904 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | VWF-DW501EG | het unknown | Unknown | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview | |
| 0.5 | VWF-H484R | homozygous | 0.498 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.83 (possibly damaging), Testable gene in GeneTests with associated GeneReview |
| 0.5 | CLECL1-S52Shift | het unknown | 0.008 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Frameshift |
| 0.5 | WNK1-A141T | het unknown | 0.051 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | WNK1-T1056P | het unknown | 0.838 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | WNK1-C1506S | homozygous | 1.000 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | GLB1L3-R163P | homozygous | 0.938 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 0.5 | GLB1L3-V474M | homozygous | 0.996 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 0.5 | GLB1L3-V532A | het unknown | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.98 (probably damaging) | |
| 0.5 | DPAGT1-I393V | homozygous | 0.431 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | TCF20-M405V | het unknown | 0.102 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: 0.963 (probably damaging) |
| 0.5 | TCF20-G56GSG | het unknown | Unknown | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: Unknown | |
| 0.5 | TCF20-G52Shift | het unknown | Unknown | Insufficiently evaluated | Prioritization score: 2 Frameshift | |
| 0.5 | TCF20-S48Shift | het unknown | Unknown | Insufficiently evaluated | Prioritization score: 2 Frameshift | |
| 0.5 | ATM-N1983S | homozygous | 0.991 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | ALKBH8-D653Y | het unknown | 0.008 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.999 (probably damaging) |
| 0.5 | HEBP1-E183D | het unknown | 0.015 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.97 (probably damaging) |
| 0.5 | GSTP1-I105V | homozygous | 0.338 | Recessive pharmacogenetic | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: Unknown |
| 0.5 | GSTP1-A114V | het unknown | 0.045 | Recessive pharmacogenetic | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: 0.018 (benign) |
| 0.5 | SLC16A8-V405A | homozygous | 0.841 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 0.5 | SLC16A8-G30S | het unknown | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.999 (probably damaging) | |
| 0.5 | TRIOBP-S217N | homozygous | 0.413 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.914 (probably damaging), Testable gene in GeneTests |
| 0.5 | TRIOBP-R576T | het unknown | Unknown | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests | |
| 0.5 | TRIOBP-S826L | het unknown | 0.016 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.243 (possibly damaging), Testable gene in GeneTests |
| 0.5 | TRIOBP-N863K | homozygous | 0.342 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.98 (probably damaging), Testable gene in GeneTests |
| 0.5 | TRIOBP-F1187L | homozygous | 0.320 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.995 (probably damaging), Testable gene in GeneTests |
| 0.5 | TRIOBP-H1300R | homozygous | 0.431 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: 0.006 (benign), Testable gene in GeneTests |
| 0.5 | TRIOBP-W1377R | homozygous | 0.964 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: 0.084 (benign), Testable gene in GeneTests |
| 0.5 | MLL2-S4010P | het unknown | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests | |
| 0.5 | MLL2-R83Q | het unknown | 0.008 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests |
| 0.5 | PLCXD1-G305V | het unknown | 0.022 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.941 (probably damaging) |
| 0.5 | AMOTL1-G871Shift | het unknown | 0.026 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Frameshift |
| 0.5 | SLCO1B3-S112A | homozygous | 0.646 | Unknown pharmacogenetic | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: Unknown |
| 0.5 | SLCO1B3-M233I | homozygous | 0.659 | Unknown pharmacogenetic | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: 0.131 (benign) |
| 0.5 | LRRK2-R50H | homozygous | 0.927 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | LRRK2-S1647T | homozygous | 0.294 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | LRRK2-M2397T | homozygous | 0.526 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | PCNT-H237Q | het unknown | 0.033 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: 0.088 (benign), Testable gene in GeneTests |
| 0.5 | PCNT-G704E | homozygous | 0.855 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: Unknown, Testable gene in GeneTests |
| 0.5 | PCNT-V1038A | homozygous | 0.847 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: Unknown, Testable gene in GeneTests |
| 0.5 | PCNT-I1639V | het unknown | 0.383 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: Unknown, Testable gene in GeneTests |
| 0.5 | PCNT-N1841S | het unknown | 0.221 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: Unknown, Testable gene in GeneTests |
| 0.5 | PCNT-R1953H | het unknown | 0.048 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: 0.014 (benign), Testable gene in GeneTests |
| 0.5 | PCNT-L2097P | het unknown | 0.262 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: 0.003 (benign), Testable gene in GeneTests |
| 0.5 | PCNT-H2125P | het unknown | 0.310 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: Unknown, Testable gene in GeneTests |
| 0.5 | PCNT-M2188R | het unknown | 0.186 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: Unknown, Testable gene in GeneTests |
| 0.5 | PCNT-W2239R | het unknown | 0.210 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: 0.003 (benign), Testable gene in GeneTests |
| 0.5 | PCNT-P2274L | het unknown | 0.355 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: 0.012 (benign), Testable gene in GeneTests |
| 0.5 | PCNT-Q2361R | het unknown | 0.262 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: 0.005 (benign), Testable gene in GeneTests |
| 0.5 | PCNT-P2377L | het unknown | 0.039 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: 0.012 (benign), Testable gene in GeneTests |
| 0.5 | PCNT-A2549T | het unknown | 0.237 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: 0.009 (benign), Testable gene in GeneTests |
| 0.5 | PCNT-Q2659H | het unknown | 0.572 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: 0.849 (possibly damaging), Testable gene in GeneTests |
| 0.5 | PCNT-R2753H | het unknown | 0.055 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.999 (probably damaging), Testable gene in GeneTests |
| 0.5 | PCNT-Q2792R | homozygous | 0.732 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: 0.006 (benign), Testable gene in GeneTests |
| 0.5 | PCNT-R3245S | het unknown | 0.273 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: 0.657 (possibly damaging), Testable gene in GeneTests |
| 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 | SYNE2-D5547N | het unknown | 0.013 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.293 (possibly damaging), Testable gene in GeneTests |
| 0.5 | SYNE2-I6547V | het unknown | 0.023 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests |
| 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 | 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 | GALC-I562T | homozygous | 0.446 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.167 (benign), Testable gene in GeneTests with associated GeneReview |
| 0.5 | NRIP1-R448G | het unknown | 0.029 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.999 (probably damaging) |
| 0.5 | HPS5-T1098I | het unknown | 0.016 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: 0.24 (possibly damaging), Testable gene in GeneTests with associated GeneReview |
| 0.5 | HPS5-L417M | het unknown | 0.150 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: 0.956 (probably damaging), Testable gene in GeneTests with associated GeneReview |
| 0.5 | YBEY-R150L | het unknown | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.989 (probably damaging) | |
| 0.5 | SLC6A5-F124S | het unknown | 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 | SLC6A5-K457N | het unknown | 0.065 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.051 (benign), Testable gene in GeneTests with associated GeneReview |
| 0.5 | SLC6A5-D463N | het unknown | 0.177 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.122 (benign), Testable gene in GeneTests with associated GeneReview |
| 0.5 | GRIK1-Q741Shift | het unknown | Unknown | Insufficiently evaluated | Prioritization score: 2 Frameshift | |
| 0.5 | GRIK1-I740Shift | het unknown | Unknown | Insufficiently evaluated | Prioritization score: 2 Frameshift | |
| 0.5 | XIAP-Q423P | homozygous | 0.277 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.053 (benign), Testable gene in GeneTests with associated GeneReview |
| 0.5 | SERPINA1-E400D | homozygous | 0.220 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.001 (benign), Testable gene in GeneTests with associated GeneReview |
| 0.5 | SERPINA1-R125H | het unknown | 0.140 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.001 (benign), Testable gene in GeneTests with associated GeneReview |
| 0.5 | AHNAK2-P5397A | het unknown | 0.435 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: 0.149 (benign) |
| 0.5 | AHNAK2-Y5184D | het unknown | 0.626 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 0.5 | AHNAK2-P4821S | het unknown | 0.023 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: Unknown |
| 0.5 | AHNAK2-P4755S | het unknown | 0.023 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.912 (probably damaging) |
| 0.5 | AHNAK2-T4664A | het unknown | 0.558 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: 0.001 (benign) |
| 0.5 | AHNAK2-L4326P | het unknown | 0.548 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: 0.001 (benign) |
| 0.5 | AHNAK2-L4321V | het unknown | 0.540 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: 0.003 (benign) |
| 0.5 | AHNAK2-V4278A | het unknown | 0.466 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: 0.001 (benign) |
| 0.5 | AHNAK2-M3869V | het unknown | 0.558 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: 0.04 (benign) |
| 0.5 | AHNAK2-D3793N | het unknown | 0.555 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: 0.04 (benign) |
| 0.5 | AHNAK2-G3654E | het unknown | 0.555 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: 0.204 (possibly damaging) |
| 0.5 | AHNAK2-V3363A | het unknown | 0.542 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: 0.009 (benign) |
| 0.5 | AHNAK2-P3336L | het unknown | 0.333 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: 0.998 (probably damaging) |
| 0.5 | AHNAK2-DL3176EV | het unknown | 0.273 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 0.5 | AHNAK2-V3083I | het unknown | 0.443 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: 0.445 (possibly damaging) |
| 0.5 | AHNAK2-R3076H | het unknown | 0.528 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: 0.233 (possibly damaging) |
| 0.5 | AHNAK2-R2862S | het unknown | 0.563 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: 0.021 (benign) |
| 0.5 | AHNAK2-V2471L | het unknown | 0.024 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: 0.813 (possibly damaging) |
| 0.5 | AHNAK2-P2387S | het unknown | 0.533 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: 0.011 (benign) |
| 0.5 | AHNAK2-L2333P | het unknown | 0.548 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: 0.002 (benign) |
| 0.5 | AHNAK2-L2146V | homozygous | 0.696 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: 0.007 (benign) |
| 0.5 | AHNAK2-M2107V | het unknown | 0.276 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 0.5 | AHNAK2-H2060Q | het unknown | 0.360 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: 0.676 (possibly damaging) |
| 0.5 | AHNAK2-E1856D | het unknown | 1.000 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 0.5 | AHNAK2-V1610A | het unknown | 0.596 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 0.5 | AHNAK2-G1571S | het unknown | Unknown | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: Unknown | |
| 0.5 | AHNAK2-E1464D | het unknown | 0.013 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: 0.04 (benign) |
| 0.5 | AHNAK2-E1403K | het unknown | 0.021 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: 0.04 (benign) |
| 0.5 | AHNAK2-S1341L | het unknown | 0.272 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: 0.146 (benign) |
| 0.5 | AHNAK2-M1298I | het unknown | 0.830 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: 0.016 (benign) |
| 0.5 | AHNAK2-E1148D | het unknown | 0.974 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: 0.002 (benign) |
| 0.5 | AHNAK2-R1144Q | het unknown | 0.026 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: 0.78 (possibly damaging) |
| 0.5 | AHNAK2-M852V | het unknown | 0.159 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: 0.024 (benign) |
| 0.5 | AHNAK2-G746A | het unknown | 0.008 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: 0.778 (possibly damaging) |
| 0.5 | AHNAK2-P744L | het unknown | 0.169 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: 0.069 (benign) |
| 0.5 | AHNAK2-T525A | het unknown | 0.226 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: 0.017 (benign) |
| 0.5 | TRPM5-G900S | het unknown | 0.048 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: Unknown |
| 0.5 | TRPM5-R578Q | het unknown | 0.439 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: 0.001 (benign) |
| 0.5 | TRPM5-V335L | het unknown | 0.031 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.98 (probably damaging) |
| 0.5 | TRPM5-V254A | homozygous | 0.794 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 0.5 | TRPM5-N235S | het unknown | 0.542 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 0.5 | NM_001080841-R42C | het unknown | 0.328 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 0.5 | NM_001080841-R102* | het unknown | 0.026 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Nonsense mutation |
| 0.5 | 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 | SBF2-E679K | het unknown | 0.043 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | F8-D1260E | homozygous | 0.263 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | ABCC8-A1369S | homozygous | 0.755 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | INF2-R877Q | het unknown | 0.008 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests |
| 0.5 | INF2-R1045Q | het unknown | Unknown | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests | |
| 0.5 | TMPRSS3-A90T | het unknown | 0.016 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: 0.957 (probably damaging), Testable gene in GeneTests |
| 0.5 | PTGDR-R332Q | het unknown | 0.016 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.905 (probably damaging) |
| 0.5 | CMA1-H66R | het unknown | 0.012 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.963 (probably damaging) |
| 0.5 | UBASH3A-S18G | het unknown | 0.541 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 0.5 | UBASH3A-L28F | het unknown | 0.025 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.949 (probably damaging) |
| 0.5 | COL6A1-R850H | homozygous | 0.264 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | MYH6-V1663I | het unknown | Unknown | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview | |
| 0.5 | MYH6-DA1661ET | het unknown | Unknown | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview | |
| 0.5 | COL6A2-S399N | homozygous | 0.727 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | COL6A2-R680H | homozygous | 0.389 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: 0.999 (probably damaging), Testable gene in GeneTests with associated GeneReview |
| 0.5 | PEX16-V116I | homozygous | 1.000 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | BDNF-V148M | het unknown | 0.208 | Unknown pharmacogenetic | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown |
| 0.5 | ATP7A-E1350K | homozygous | 1.000 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.375 | PEX6-P939Q | het unknown | 0.339 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.375 | PEX6-SS173PR | het unknown | Unknown | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview | |
| 0.375 | NAT2-I114T | het unknown | 0.220 | Recessive pharmacogenetic | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown |
| 0.375 | NAT2-R268K | het unknown | 0.675 | Unknown pharmacogenetic | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: Unknown |
| 0.375 | FANCA-L1320LL | het unknown | Unknown | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview | |
| 0.375 | FANCA-G809D | het unknown | 0.671 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.375 | FANCA-G501S | het unknown | 0.654 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.375 | FANCA-T266A | het unknown | 0.708 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.778 (possibly damaging), Testable gene in GeneTests with associated GeneReview |
| 0.375 | HPS1-Q604R | het unknown | Unknown | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview | |
| 0.375 | HPS1-P491R | het unknown | 0.156 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: 0.983 (probably damaging), Testable gene in GeneTests with associated GeneReview |
| 0.375 | CPN2-V536M | het unknown | 0.262 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.935 (probably damaging), Testable gene in GeneTests |
| 0.375 | CPN2-Q509R | het unknown | Unknown | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests | |
| 0.375 | CPN2-A305T | het unknown | 0.359 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: 0.005 (benign), Testable gene in GeneTests |
| 0.375 | RYR2-T279M | het unknown | Unknown | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview | |
| 0.375 | RYR2-Q2958R | het unknown | 0.133 | 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: 2 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 | MAN2B1-L278V | het unknown | 0.236 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.25 | 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 | ZNF317-Q19H | het unknown | 0.108 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Nonsense mutation |
| 0.25 | ZNF317-Q19H | het unknown | 0.108 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Nonsense mutation |
| 0.25 | LUZP1-D868N | homozygous | 0.785 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 0.25 | LUZP1-Q461K | homozygous | 0.701 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: 0.47 (possibly damaging) |
| 0.25 | LUZP1-G458S | homozygous | 0.731 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: 0.006 (benign) |
| 0.25 | LUZP1-S275Shift | het unknown | Unknown | Insufficiently evaluated | Prioritization score: 2 Frameshift | |
| 0.25 | TMEM43-K168N | het unknown | 0.335 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.064 (benign), Testable gene in GeneTests with associated GeneReview |
| 0.25 | TMEM43-M179T | het unknown | 0.487 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.25 | CPS1-T344A | het unknown | 0.583 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.302 (possibly damaging), Testable gene in GeneTests with associated GeneReview |
| 0.25 | COL6A3-T3069I | het unknown | 0.364 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.25 | COL6A3-A3012P | het unknown | 0.843 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.25 | COL6A3-M2927T | het unknown | 0.674 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.25 | ATG16L1-T300A | het unknown | 0.347 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown |
| 0.25 | MEGF6-H1413Y | het unknown | 0.167 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: 0.021 (benign) |
| 0.25 | MEGF6-W1392R | het unknown | 0.172 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: 0.001 (benign) |
| 0.25 | MEGF6-G1137A | het unknown | 0.184 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: 0.292 (possibly damaging) |
| 0.25 | MEGF6-R916L | het unknown | 0.493 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: 0.114 (benign) |
| 0.25 | MEGF6-L688P | het unknown | 0.230 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 0.25 | MEGF6-S131G | homozygous | 0.838 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 0.25 | MEGF6-R12Shift | het unknown | Unknown | Insufficiently evaluated | Prioritization score: 2 Frameshift | |
| 0.25 | COL11A1-S1547P | het unknown | 0.752 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.25 | COL11A1-P1335L | het unknown | 0.479 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.25 | HIVEP3-T2338A | homozygous | 1.000 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 0.25 | HIVEP3-D2109A | homozygous | 1.000 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 0.25 | HIVEP3-A2023P | homozygous | 1.000 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 0.25 | HIVEP3-S1297Shift | het unknown | Unknown | Insufficiently evaluated | Prioritization score: 2 Frameshift | |
| 0.25 | HIVEP3-S1057T | het unknown | 0.023 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: Unknown |
| 0.25 | HIVEP3-H575R | homozygous | 0.990 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 0.25 | HIVEP3-V35I | het unknown | 0.320 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: 0.006 (benign) |
| 0.25 | LGALS8-M56V | het unknown | 1.000 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 0.25 | LGALS8-N67Shift | het unknown | Unknown | Insufficiently evaluated | Prioritization score: 2 Frameshift | |
| 0.25 | LGALS8-R226S | het unknown | 0.664 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 0.25 | CBR3-V244M | het unknown | 0.398 | Unknown pharmacogenetic | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: 0.014 (benign) |
| 0.25 | TRIB3-Q84R | het unknown | 0.188 | Unknown pharmacogenetic | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: Unknown |
| 0.25 | GBA-K144R | het unknown | 0.619 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.25 | GBA-R140W | het unknown | 0.357 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.25 | OTOF-R82C | het unknown | 0.229 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.006 (benign), Testable gene in GeneTests with associated GeneReview |
| 0.25 | ZNF28-M471T | homozygous | 0.921 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 0.25 | ZNF28-K412Q | homozygous | 0.328 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: 0.4 (possibly damaging) |
| 0.25 | ZNF28-K265Shift | het unknown | Unknown | Insufficiently evaluated | Prioritization score: 2 Frameshift | |
| 0.25 | NOTCH2NL-R216Shift | het unknown | Unknown | Insufficiently evaluated | Prioritization score: 2 Frameshift | |
| 0.25 | NOTCH2NL-E226Q | het unknown | Unknown | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: Unknown | |
| 0.25 | SELP-V640L | het unknown | 0.295 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown |
| 0.25 | SELP-D603N | het unknown | 0.780 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 0.25 | SELP-S331N | het unknown | 0.228 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 0.25 | FMO2-S195L | het unknown | 0.465 | Unknown pharmacogenetic | Insufficiently evaluated | Prioritization score: 1 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 | KISS1-Q36R | het unknown | 0.078 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 0.25 | MMP9-Q279R | het unknown | 0.477 | Unknown pharmacogenetic | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: Unknown |
| 0.25 | MMP9-R574P | homozygous | 0.813 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 0.25 | LAMB3-M852L | het unknown | 0.117 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.526 (possibly damaging), Testable gene in GeneTests with associated GeneReview |
| 0.25 | CFH-H402Y | het unknown | 0.818 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.25 | KCNQ2-N780T | het unknown | 0.509 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.25 | MYH7B-G796D | het unknown | 0.017 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: Unknown |
| 0.25 | MYH7B-S797Shift | het unknown | Unknown | Insufficiently evaluated | Prioritization score: 2 Frameshift | |
| 0.25 | MYH7B-K1007E | homozygous | 0.995 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 0.25 | HMCN1-V2237L | het unknown | Unknown | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests | |
| 0.25 | HMCN1-I2418T | homozygous | 0.553 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: 0.468 (possibly damaging), Testable gene in GeneTests |
| 0.25 | NOTCH2-C19W | het unknown | 0.208 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.25 | CASQ2-T66A | het unknown | 0.427 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.25 | LEPR-K109R | het unknown | 0.332 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: 0.026 (benign), Testable gene in GeneTests |
| 0.25 | LEPR-Q223R | het unknown | 0.569 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: 0.484 (possibly damaging), Testable gene in GeneTests |
| 0.25 | CYP2B6-Q172H | het unknown | 0.295 | Unknown pharmacogenetic | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: 0.009 (benign) |
| 0.25 | CYP2B6-K262R | het unknown | 0.298 | Unknown pharmacogenetic | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: Unknown |
| 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 | NPHS1-E117K | het unknown | 0.297 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.997 (probably damaging), Testable gene in GeneTests |
| 0.25 | CASP10-L522I | het unknown | 0.309 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.25 | CYP4B1-R173W | het unknown | 0.184 | Unknown pharmacogenetic | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: Unknown |
| 0.25 | EP300-I997V | het unknown | 0.176 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.25 | C1orf173-V1528M | homozygous | Unknown | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: Unknown | |
| 0.25 | C1orf173-G1179Del | het unknown | Unknown | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: Unknown | |
| 0.25 | C1orf173-L1056V | het unknown | Unknown | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: Unknown | |
| 0.25 | C1orf173-L851Shift | het unknown | Unknown | Insufficiently evaluated | Prioritization score: 2 Frameshift | |
| 0.25 | C1orf173-H691R | het unknown | Unknown | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: Unknown | |
| 0.25 | GLI2-A1156S | het unknown | 0.536 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.25 | GLI2-D1306N | het unknown | 0.595 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.25 | MCEE-A76V | het unknown | 0.177 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 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: 1 Polyphen 2: Unknown, Testable gene in GeneTests |
| 0.25 | LHCGR-N291S | het unknown | Unknown | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests | |
| 0.25 | CD3EAP-K428Del | het unknown | Unknown | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: Unknown | |
| 0.25 | CD3EAP-Q504K | het unknown | 0.284 | Unknown pharmacogenetic | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: 0.002 (benign) |
| 0.25 | ARID5A-R9Shift | het unknown | Unknown | Insufficiently evaluated | Prioritization score: 2 Frameshift | |
| 0.25 | ARID5A-K10E | het unknown | Unknown | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: Unknown | |
| 0.25 | PCK1-V184L | homozygous | 0.856 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: Unknown, Testable gene in GeneTests |
| 0.25 | PCK1-E276K | het unknown | 0.076 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: Unknown, Testable gene in GeneTests |
| 0.25 | PCK1-V368I | het unknown | Unknown | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests | |
| 0.25 | IL1F10-A51D | het unknown | 0.726 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 0.25 | IL1F10-G107Shift | het unknown | Unknown | Insufficiently evaluated | Prioritization score: 2 Frameshift | |
| 0.25 | SULT1C4-D5E | het unknown | 0.371 | Unknown pharmacogenetic | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: Unknown |
| 0.25 | C5orf20-R117* | het unknown | Unknown | Insufficiently evaluated | Prioritization score: 2 Nonsense mutation | |
| 0.25 | C5orf20-N97D | het unknown | Unknown | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: Unknown | |
| 0.25 | C5orf20-T75P | het unknown | Unknown | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: Unknown | |
| 0.25 | PCDH15-S19A | het unknown | 0.174 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.013 (benign), 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 | C14orf73-R77W | het unknown | Unknown | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: Unknown | |
| 0.25 | C14orf73-D93E | het unknown | Unknown | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: Unknown | |
| 0.25 | C14orf73-A147Shift | het unknown | Unknown | Insufficiently evaluated | Prioritization score: 2 Frameshift | |
| 0.25 | C14orf73-L185H | het unknown | Unknown | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: Unknown | |
| 0.25 | C14orf73-Q675R | homozygous | Unknown | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: Unknown | |
| 0.25 | AKAP9-R182S | het unknown | Unknown | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests | |
| 0.25 | AKAP9-P2979S | homozygous | 0.997 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: Unknown, Testable gene in GeneTests |
| 0.25 | ELN-G422S | het unknown | 0.225 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.25 | CREB3L2-Y318Shift | het unknown | Unknown | Insufficiently evaluated | Prioritization score: 2 Frameshift | |
| 0.25 | CREB3L2-V130I | het unknown | 0.831 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 0.25 | CREB3L2-T100Del | het unknown | Unknown | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: Unknown | |
| 0.25 | ADCK2-V477A | het unknown | Unknown | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: Unknown | |
| 0.25 | ADCK2-A479Shift | het unknown | Unknown | Insufficiently evaluated | Prioritization score: 2 Frameshift | |
| 0.25 | AKAP5-A51Shift | het unknown | Unknown | Insufficiently evaluated | Prioritization score: 2 Frameshift | |
| 0.25 | AKAP5-T203I | homozygous | 0.970 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 0.25 | NOS3-D298E | het unknown | 0.844 | Unknown pharmacogenetic | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: Unknown |
| 0.25 | CNTNAP2-C9S | het unknown | 0.086 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: 0.134 (benign), Testable gene in GeneTests |
| 0.25 | CNTNAP2-A25T | het unknown | Unknown | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests | |
| 0.25 | ZFYVE26-N1891S | homozygous | 0.900 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: Unknown, Testable gene in GeneTests |
| 0.25 | ZFYVE26-V1645G | het unknown | 0.016 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: 0.006 (benign), Testable gene in GeneTests |
| 0.25 | ZFYVE26-C1457Y | homozygous | 0.136 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: 0.005 (benign), Testable gene in GeneTests |
| 0.25 | ZFYVE26-L263Shift | het unknown | Unknown | Insufficiently evaluated | Prioritization score: 3 Frameshift, Testable gene in GeneTests | |
| 0.25 | RYR3-V494I | het unknown | 0.183 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 0.25 | RYR3-I1160Shift | het unknown | Unknown | Insufficiently evaluated | Prioritization score: 2 Frameshift | |
| 0.25 | RYR3-R1641C | homozygous | 0.769 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 0.25 | RYR3-G2270E | homozygous | 0.865 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 0.25 | RYR3-E4441Del | het unknown | 0.156 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 0.25 | GLI3-T183A | het unknown | 0.663 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.25 | FIG4-V654A | het unknown | 0.467 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.25 | LAMB2-E987K | het unknown | 0.061 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: 0.17 (benign), Testable gene in GeneTests |
| 0.25 | LAMB2-R575Q | het unknown | Unknown | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests | |
| 0.25 | FUT9-L156Shift | het unknown | Unknown | Insufficiently evaluated | Prioritization score: 2 Frameshift | |
| 0.25 | FUT9-T237A | homozygous | 0.822 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 0.25 | CRTC3-S72N | het unknown | 0.353 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: 0.27 (possibly damaging) |
| 0.25 | CRTC3-A189Shift | het unknown | Unknown | Insufficiently evaluated | Prioritization score: 2 Frameshift | |
| 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 | KIAA1370-V560I | homozygous | 0.370 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 0.25 | KIAA1370-S101Shift | het unknown | Unknown | Insufficiently evaluated | Prioritization score: 2 Frameshift | |
| 0.25 | CDAN1-R891C | het unknown | 0.246 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: 0.914 (probably damaging), Testable gene in GeneTests with associated GeneReview |
| 0.25 | CDAN1-Q596R | het unknown | 0.498 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.25 | CDAN1-Q107L | het unknown | 0.175 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.25 | AOAH-G517* | het unknown | Unknown | Insufficiently evaluated | Prioritization score: 2 Nonsense mutation | |
| 0.25 | AOAH-A266G | het unknown | 0.068 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: 0.988 (probably damaging) |
| 0.25 | AOAH-D28N | het unknown | 0.334 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: 0.135 (benign) |
| 0.25 | TTBK2-L8P | het unknown | 0.560 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.25 | PARK2-V380L | het unknown | 0.169 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 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 | SFTPC-T138N | het unknown | 0.172 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.25 | SFTPC-S186N | het unknown | 0.222 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.25 | SETX-I2587V | het unknown | 0.591 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.25 | SETX-T1855A | het unknown | 0.508 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.25 | SETX-I1386V | het unknown | 0.494 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.25 | SETX-G1252R | het unknown | 0.494 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.25 | SETX-D1192E | het unknown | 0.598 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.25 | SETX-F1152C | het unknown | 0.109 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.25 | SETX-A660G | het unknown | 0.242 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.25 | HYLS1-C31R | het unknown | 0.322 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.994 (probably damaging), Testable gene in GeneTests |
| 0.25 | SNX19-L878R | het unknown | 0.808 | Unknown pharmacogenetic | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: Unknown |
| 0.25 | SNX19-N753S | het unknown | 0.617 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 0.25 | SNX19-L618F | homozygous | 0.994 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 0.25 | SNX19-P480L | het unknown | 0.151 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: 0.977 (probably damaging) |
| 0.25 | SNX19-S407G | het unknown | 0.202 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 0.25 | SNX19-D396E | het unknown | 0.151 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 0.25 | SNX19-G381S | het unknown | 0.151 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: 0.001 (benign) |
| 0.25 | SNX19-V361L | het unknown | 0.671 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 0.25 | SNX19-A197S | het unknown | Unknown | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: Unknown | |
| 0.25 | SNX19-T196A | het unknown | 0.008 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: 0.023 (benign) |
| 0.25 | COL2A1-T9S | het unknown | 0.598 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.25 | TTF1-G360V | het unknown | 0.110 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.988 (probably damaging), Testable gene in GeneTests |
| 0.25 | ALG9-V289I | het unknown | 0.332 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: 0.907 (probably damaging), Testable gene in GeneTests with associated GeneReview |
| 0.25 | HKDC1-W721R | homozygous | 0.978 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 0.25 | HKDC1-K898Shift | het unknown | Unknown | Insufficiently evaluated | Prioritization score: 2 Frameshift | |
| 0.25 | HKDC1-N917K | het unknown | 0.313 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: 0.003 (benign) |
| 0.25 | SYT15-E309D | het unknown | 0.450 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 0.25 | SYT15-R86* | het unknown | Unknown | Insufficiently evaluated | Prioritization score: 2 Nonsense mutation | |
| 0.25 | MYO7A-S1666C | het unknown | 0.610 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.25 | MYO7A-L1954I | het unknown | 0.552 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.25 | PTF1A-S263P | het unknown | 0.654 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.981 (probably damaging), Testable gene in GeneTests |
| 0.25 | 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 | COMMD5-H13Shift | het unknown | Unknown | Insufficiently evaluated | Prioritization score: 2 Frameshift | |
| 0.25 | COMMD5-A6T | het unknown | 0.206 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: 0.01 (benign) |
| 0.25 | RPGRIP1-K192E | het unknown | 0.446 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.25 | RPGRIP1-A547S | het unknown | 0.164 | Complex/Other benign | Low clinical importance, uncertain | 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. |
| 0.25 | EPHX2-R287Q | het unknown | 0.148 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: 1.0 (probably damaging) |
| 0.25 | PCK2-Q121P | homozygous | 1.000 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: Unknown, Testable gene in GeneTests |
| 0.25 | PCK2-G222R | het unknown | Unknown | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests | |
| 0.25 | AX747192-F254Shift | het unknown | Unknown | Insufficiently evaluated | Prioritization score: 2 Frameshift | |
| 0.25 | AX747192-N149Shift | homozygous | 0.565 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 1 Frameshift |
| 0.25 | IRS2-G1057D | het unknown | 0.232 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.024 (benign) |
| 0.25 | SUCLA2-S199T | het unknown | 0.722 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.25 | KRT6B-I365V | het unknown | 1.000 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.003 (benign), Testable gene in GeneTests with associated GeneReview |
| 0.25 | KRT6C-R182Q | het unknown | 0.281 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.805 (possibly damaging), Testable gene in GeneTests with associated GeneReview |
| 0.25 | GCN1L1-Y2155D | homozygous | 0.993 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 0.25 | GCN1L1-I1378Shift | het unknown | Unknown | Insufficiently evaluated | Prioritization score: 2 Frameshift | |
| 0.25 | CPNE3-T412M | het unknown | 0.218 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: 0.579 (possibly damaging) |
| 0.25 | CPNE3-P527Shift | het unknown | Unknown | Insufficiently evaluated | Prioritization score: 2 Frameshift | |
| 0.25 | TMEM67-I604V | het unknown | 0.710 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.25 | PIGQ-R8C | het unknown | Unknown | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: Unknown | |
| 0.25 | PIGQ-D4Shift | het unknown | Unknown | Insufficiently evaluated | Prioritization score: 2 Frameshift | |
| 0.25 | COL9A1-S339P | het unknown | 0.507 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.25 | XYLT2-T801R | het unknown | 0.225 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown |
| 0.25 | GHR-I544L | het unknown | 0.473 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.98 (probably damaging), Testable gene in GeneTests |
| 0.25 | DNAH5-I4450V | het unknown | 0.481 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.25 | DNAH5-A4134V | het unknown | 0.450 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.25 | 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 |
| 0.25 | DNAH5-H12Q | het unknown | 0.896 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.25 | BRIP1-S919P | het unknown | 0.652 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.25 | HEXB-L62S | homozygous | 0.978 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: Unknown, Testable gene in GeneTests |
| 0.25 | HEXB-L72F | het unknown | Unknown | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests | |
| 0.25 | CMYA5-E1952Shift | het unknown | Unknown | Insufficiently evaluated | Prioritization score: 2 Frameshift | |
| 0.25 | CMYA5-E1952A | het unknown | Unknown | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: Unknown | |
| 0.25 | CMYA5-P4063L | het unknown | 0.047 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: Unknown |
| 0.25 | ERBB2-I655V | het unknown | 0.121 | Unknown pharmacogenetic | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: 0.18 (benign) |
| 0.25 | ERBB2-P1170A | het unknown | 0.275 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: 0.983 (probably damaging) |
| 0.25 | FBN2-V965I | het unknown | 0.714 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.25 | 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 | APC-V1822D | het unknown | 0.887 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.25 | TLK2-R122* | het unknown | Unknown | Insufficiently evaluated | Prioritization score: 2 Nonsense mutation | |
| 0.25 | TLK2-E125A | het unknown | Unknown | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: Unknown | |
| 0.25 | ADRB1-G389R | het unknown | 0.705 | Unknown pharmacogenetic | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: Unknown |
| 0.25 | OPA1-S158N | het unknown | 0.482 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.002 (benign), Testable gene in GeneTests with associated GeneReview |
| 0.25 | GAA-H199R | het unknown | 0.574 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.25 | GAA-R223H | het unknown | 0.606 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.25 | GAA-V780I | het unknown | 0.720 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.25 | DRD3-G9S | het unknown | 0.482 | Unknown pharmacogenetic | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: Unknown |
| 0.25 | EPHA3-E647Shift | het unknown | Unknown | Insufficiently evaluated | Prioritization score: 2 Frameshift | |
| 0.25 | EPHA3-W924R | het unknown | 0.420 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 0.25 | IDUA-H33Q | het unknown | 0.750 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.008 (benign), Testable gene in GeneTests with associated GeneReview |
| 0.25 | CRIPAK-C27Shift | het unknown | Unknown | Insufficiently evaluated | Prioritization score: 2 Frameshift | |
| 0.25 | CRIPAK-A44T | het unknown | 0.132 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 0.25 | CRIPAK-H95R | homozygous | 0.763 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: 0.01 (benign) |
| 0.25 | ITGB4-L1779P | het unknown | 0.486 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.25 | UCHL1-S18Y | het unknown | 0.111 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.029 (benign) |
| 0.25 | UNC13D-K867E | het unknown | 0.596 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.25 | EVC-Y258H | het unknown | 0.721 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.985 (probably damaging), Testable gene in GeneTests |
| 0.25 | EVC-T449K | homozygous | 0.871 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: Unknown, Testable gene in GeneTests |
| 0.25 | EVC-R576Q | het unknown | 0.274 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.998 (probably damaging), Testable gene in GeneTests |
| 0.25 | FBF1-G248Shift | het unknown | Unknown | Insufficiently evaluated | Prioritization score: 2 Frameshift | |
| 0.25 | FBF1-R151G | het unknown | 0.510 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: 0.002 (benign) |
| 0.25 | FBF1-G65V | het unknown | 0.184 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 0.25 | EVPLL-S4N | homozygous | 0.510 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 0.25 | EVPLL-E222Shift | het unknown | Unknown | Insufficiently evaluated | Prioritization score: 2 Frameshift | |
| 0.25 | MYH3-A1759AKKA | het unknown | Unknown | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests | |
| 0.25 | MYH3-A1192T | homozygous | 0.544 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: Unknown, Testable gene in GeneTests |
| 0.25 | RFWD3-I564V | het unknown | 0.428 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: 0.01 (benign) |
| 0.25 | RFWD3-S361F | het unknown | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: Unknown | |
| 0.25 | RFWD3-T90N | het unknown | 0.789 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 0.25 | RFWD3-Q71Shift | het unknown | Unknown | Insufficiently evaluated | Prioritization score: 2 Frameshift | |
| 0.25 | MICA-L145V | het unknown | 0.191 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 0.25 | MICA-G198S | homozygous | 0.337 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 0.25 | MICA-I236T | het unknown | 0.570 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 0.25 | MICA-R274Q | het unknown | 0.538 | Unknown pharmacogenetic | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: Unknown |
| 0.25 | MICA-G318Shift | het unknown | 0.163 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 1 Frameshift |
| 0.25 | CDSN-N527D | homozygous | 0.849 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 0.25 | CDSN-L410S | het unknown | 0.699 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 0.25 | CDSN-S153Del | het unknown | Unknown | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: Unknown | |
| 0.25 | CDSN-N143S | homozygous | 0.848 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 0.25 | CDSN-L56F | het unknown | 0.023 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: Unknown |
| 0.25 | CDSN-M18L | het unknown | 0.298 | Unknown pharmacogenetic | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: Unknown |
| 0.25 | ALX4-P102S | het unknown | 0.217 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.25 | ALX4-R35T | het unknown | 0.393 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: 0.985 (probably damaging), Testable gene in GeneTests with associated GeneReview |
| 0.25 | DHODH-K7Q | het unknown | 0.560 | Unknown pharmacogenetic | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: 0.004 (benign) |
| 0.25 | TULP1-K261N | het unknown | 0.805 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 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: 2 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: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.25 | MUT-I671V | het unknown | 0.522 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.25 | ABCC6P1-G7R | het unknown | Unknown | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: Unknown | |
| 0.25 | ABCC6P1-S9Shift | het unknown | Unknown | Insufficiently evaluated | Prioritization score: 2 Frameshift | |
| 0.25 | TMC7-G254E | homozygous | 0.512 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: 0.003 (benign) |
| 0.25 | TMC7-Y709* | het unknown | Unknown | Insufficiently evaluated | Prioritization score: 2 Nonsense mutation | |
| 0.25 | KIF6-W719R | het unknown | 0.538 | Unknown pharmacogenetic | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: 0.01 (benign) |
| 0.25 | TRIM15-S324N | het unknown | 0.155 | Unknown pharmacogenetic | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: Unknown |
| 0.25 | RNF39-A304E | het unknown | 0.238 | Unknown pharmacogenetic | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: Unknown |
| 0.25 | RNF39-A245T | het unknown | 0.025 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: Unknown |
| 0.25 | RNF39-S203P | het unknown | 0.223 | Unknown pharmacogenetic | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: Unknown |
| 0.25 | TCOF1-V887A | het unknown | 0.168 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.25 | TCOF1-P1139R | het unknown | 0.211 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.25 | CHRNB1-E32G | het unknown | 0.172 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.288 (possibly damaging), Testable gene in GeneTests with associated GeneReview |
| 0.25 | 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 | PCDHB13-Q307Shift | het unknown | Unknown | Insufficiently evaluated | Prioritization score: 2 Frameshift | |
| 0.25 | PCDHB13-R471G | het unknown | 1.000 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 0.25 | FLT4-H890Q | het unknown | 0.355 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.714 (possibly damaging), Testable gene in GeneTests with associated GeneReview |
| 0.25 | PKD1L2-M2313I | homozygous | 0.883 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 0.25 | PKD1L2-S2207R | homozygous | 0.985 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 0.25 | PKD1L2-S2137F | homozygous | 0.870 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 0.25 | PKD1L2-L2117I | het unknown | 0.248 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 0.25 | PKD1L2-Y2079Shift | het unknown | Unknown | Insufficiently evaluated | Prioritization score: 2 Frameshift | |
| 0.25 | PKD1L2-A2054T | het unknown | 0.185 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 0.25 | PKD1L2-Y2048S | het unknown | 0.169 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 0.25 | PKD1L2-Q2035R | het unknown | 0.210 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 0.25 | PKD1L2-M1866V | homozygous | 0.957 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 0.25 | PKD1L2-G1847R | homozygous | 0.373 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 0.25 | PKD1L2-Q1701H | homozygous | 0.294 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 0.25 | PKD1L2-N1330D | homozygous | 0.991 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 0.25 | PKD1L2-S1326P | homozygous | 0.734 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 0.25 | PKD1L2-G1268S | homozygous | 0.169 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 0.25 | PKD1L2-L711P | homozygous | 0.805 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 0.25 | PKD1L2-P512L | homozygous | 0.751 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 0.25 | PKD1L2-K416Q | homozygous | 0.788 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 0.25 | PKD1L2-P301A | het unknown | 0.524 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 0.25 | PKD1L2-R252W | het unknown | 0.560 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 0.25 | PKD1L2-N236Shift | het unknown | 0.389 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 1 Frameshift |
| 0.25 | PKD1L2-E221G | homozygous | 0.708 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 0.25 | PKD1L2-Q220* | het unknown | 0.173 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 1 Nonsense mutation |
| 0.25 | PKD1L2-V183I | het unknown | 0.212 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 0.25 | PKD1L2-G129D | het unknown | 0.134 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 0.25 | PKD1L2-Q120L | het unknown | 0.451 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 0.25 | PKD1L2-W73R | het unknown | 0.549 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 0.25 | PKD1L2-V20A | het unknown | 0.548 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 0.25 | DSP-R1537C | het unknown | 0.023 | Unknown benign | Low clinical importance, uncertain | Probably benign / nonpathogenic. |
| 0.25 | DSP-S2608Y | het unknown | Unknown | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview | |
| 0.25 | ATXN1-P753S | het unknown | 0.107 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 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 | FAM38A-I2265V | het unknown | 0.183 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 0.25 | FAM38A-K1878Del | het unknown | Unknown | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: Unknown | |
| 0.25 | FAM38A-P1857S | het unknown | 0.185 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 0.25 | FAM38A-E1472Shift | het unknown | Unknown | Insufficiently evaluated | Prioritization score: 2 Frameshift | |
| 0.25 | FAM38A-P1398L | het unknown | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: Unknown | |
| 0.25 | FAM38A-R407G | het unknown | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: Unknown | |
| 0.25 | FAM38A-V394L | het unknown | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: Unknown | |
| 0.25 | FAM38A-V250A | homozygous | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: Unknown | |
| 0.25 | FAM38A-I83T | homozygous | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: Unknown | |
| 0 | PAX2-Y273Shift | het unknown | Unknown | Insufficiently evaluated | Prioritization score: 4 Frameshift, Testable gene in GeneTests with associated GeneReview | |
| 0 | ITPA-P32T | het unknown | 0.084 | Recessive pharmacogenetic | Low clinical importance, well-established | This variant is associated with inosine triphosphate pyrophosphohydrolase deficiency and may be associated with an adverse reaction to thiopurine drugs (which are used as immunosuppressants). Homozygotes have no detectable ITPase activity, individuals compound heterozygous with another less severe mutation also have severely reduced enzyme activity. |
| 0 | MBL2-R52C | het unknown | 0.035 | Recessive pathogenic | Low clinical importance, likely | This variant is associated with mannose binding protein deficiency which leads to impaired complement system immune response to mannose-rich pathogens. Patients homozygous for this allele or compound heterozygous are likely to have increased susceptibility to infection, but Hellemann et al. report heterosis for intensive care outcomes in heterozygous subjects. The wild-type version of this gene is known as variant allele A, while this is called variant allele D. See G54D (variant B) and G57E (variant C). |
| 0 | SNCA-A69Shift | het unknown | Unknown | Insufficiently evaluated | Prioritization score: 4 Frameshift, Testable gene in GeneTests with associated GeneReview | |
| 0 | DTNBP1-P272S | het unknown | 0.022 | Recessive protective | Low clinical importance, uncertain | Possibly a slight protective effect against colorectal cancer if homozygous. |
| 0 | HFE-H63D | het unknown | 0.086 | Recessive pathogenic | Low clinical importance, uncertain | There have been some hypotheses that this variant contributes to causing hereditary hemachromatosis, possibly as a compound heterozygote, but some others treat it as a polymorphism. Cys282Tyr is the classic causal variant and itself has very low penetrance. Mouse studies indicates this variant has a similar but weaker effect; if it has any effect at all its penetrance may be quite low and/or require modifier alleles. |
| 0 | TGM1-E520G | het unknown | 0.008 | Recessive pathogenic | Moderate clinical importance, uncertain | This variant was found in three individuals with lamellar ichthyosis (two homozygous and one compound het.) in two publications, but insufficient controls makes it difficult to assess significance. |
| 0 | PEX13-F140Shift | het unknown | Unknown | Insufficiently evaluated | Prioritization score: 4 Frameshift, Testable gene in GeneTests with associated GeneReview |
Input file format: CGIVAR
Genome build: b37
Genome coverage: 2,771,265,948 bases (97.0% of callable positions, 90.0% of total positions)
Coding region coverage: 32,965,769 bases (99.0% 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