Variant report for hu2DBF2D
- Data source: CGI sample GS01173-DNA_G02 from PGP sample 67180598
- This report: evidence.pgp-hms.org/genomes?4af0e3b1f4c19eb280cf65564e7ac975097366c9
- Person ID: hu2DBF2D
- public profile: my.pgp-hms.org/profile/hu2DBF2D
- Download: source data, dbSNP and nsSNP report (124 MB)
- Processing status: processing
- Show debugging info
Log file:
| Row number | Variant | Clinical Importance | Evidence | Impact | Allele freq | Summary | Sufficient |
|---|---|---|---|---|---|---|---|
| 1 | CBS-I278T | High | Likely | Likely pathogenic Recessive, Carrier (Heterozygous) | 0.00288158 | This recessive mutation causes homocystinuria in a recessive manner and is found in patients responsive to pyridoxine treatment. | 1 |
| 2 | SPG11-K1013E | High | Uncertain | Uncertain pathogenic Recessive, Carrier (Heterozygous) | 0.0104109 | One unpublished report links this to causing spastic paraplegia in a recessive manner, but insufficient data exists to evaluate significance. Most mutations in this reported to cause the disease in this gene are more severe null mutations (frameshift or nonsense). | 1 |
| 3 | SLC3A1-M467T | Moderate | Well-established | Well-established pathogenic Recessive, Carrier (Heterozygous) | 0.00213794 | Causes cystinuria in a recessive manner, which can lead to kidney stones when symptomatic. This variant is one of the most common cystinuria-causing variants, and may be somewhat milder than other causal variants. | 1 |
| 4 | MYO1A-G662E | Moderate | Uncertain | Uncertain pathogenic Dominant, Heterozygous | 0.0257483 | Although one report speculated that this variant may cause dominant, early-onset sensorineural hearing loss, the findings lacked statistical significance. Notably, this gene is not a clinically tested gene and another of the eight variants reported by these authors (S797F) has since been observed in a PGP participant with no symptoms of hearing loss. | 1 |
| 5 | APOA5-S19W | Low | Likely | Likely pathogenic Unknown, Heterozygous | 0.0646151 | This variant, also known as APOA5*3, is associated with higher plasma triglyceride concentrations but no significant correlation with coronary artery disease itself has been found. | 1 |
| 6 | ELAC2-S217L | Low | Uncertain | Uncertain pathogenic Complex/Other, Heterozygous | 0.273471 | Reported to be associated with increased susceptibility to prostate cancer, but later studies weaken the hypothesis. Xu et al.'s meta-analysis concludes that there is a small but significant increased risk (OR = 1.13). Assuming a lifetime risk of 16% for prostate cancer we calculate this leads to an increased risk of ~1.5% (17.5% total). | 1 |
| 7 | TGIF1-P83Shift | Low | Uncertain | Uncertain pathogenic Complex/Other, Heterozygous | 0.138889 | Severe variants in this gene are associated with holoprosencephaly disorders when combined with loss-of-function variants in SHH. Haploinsufficiency was identified in some families with this condition. It is unclear how likely this variant is to occur in combination with an SHH variant, or what phenotypic effect the variant would have on its own. | 1 |
| 8 | 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 |
| 9 | 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 |
| 10 | WFS1-R611H | Low | Uncertain | Uncertain not reviewed Recessive, Carrier (Heterozygous) | 0.400446 | This nonsynonymous SNP is associated with Wolfram Syndrome (known as DIDMOAD), which is characterized by early-onset non-autoimmune diabetes mellitus, diabetes insipidus, optic atrophy, and deafness) and to adult Type Two Diabetes Mellitus. The WFS1 gene maps to chromosome 4p16.3. The variant has been shown to be statistically associated with type II diabetes in six UK studies and one study of Ashkenazi Jews (Sandhu, M., et al., Minton et al.). | 1 |
| 11 | DPYD-M166V | High | Likely | Likely pharmacogenetic Unknown, Heterozygous | 0.0778955 | Associated with DPYD deficiency and poor prognosis for chemotherapy w/ 5-flurorouracil. | 1 |
| 12 | CYP2C9-R144C | Moderate | Well-established | Well-established pharmacogenetic Unknown, Homozygous | 0.0970982 | This variant, also called CYP2C9*2, is a pharmacogenetic variant that modulates sensitivity for Warfarin (due to reduced metabolism). This variant is associated with Caucasians. The FDA has approved reduced recommended Warfarin dosage based on the presence of this variant. | 1 |
| 13 | ABCC6-R1268Q | Low | Uncertain | Uncertain pharmacogenetic Unknown, Heterozygous | 0.218907 | This common polymorphism appears to not have a significant phenotypic impact. A few studies report weak but significant associations with plasma lipids (in Inuits) and thalidomide toxicity. | 1 |
| 14 | rs1544410 | Low | Uncertain | Uncertain pharmacogenetic Unknown, Homozygous | 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 |
| 15 | FUT2-W154X | Moderate | Well-established | Well-established protective Recessive, Carrier (Heterozygous) | 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 |
| 16 | PRNP-M129V | Low | Well-established | Well-established protective Complex/Other, Homozygous | 0.339561 | This variant is associated with some protective effects for prion disease -- individuals homozygous for this variant are less susceptible to Creutzfeldt-Jakob, and Papua New Guinea individuals heterozygotes at this site are less susceptible to kuru. | 1 |
| 17 | CCR5-S185Shift | Low | Well-established | Well-established protective Recessive, Carrier (Heterozygous) | 0.047619 | Also known as CCR5-delta32, this variant is associated with resistance to many strains of HIV (but not all strains, only strains that use target the CCR5 protein). Heterozygotes are reported to have slower HIV progression, and homozygotes are very resistant to being infected by these strains. | 1 |
| 18 | NPC1-H215R | Low | Likely | Likely protective Complex/Other, Heterozygous | 0.295687 | This variant is associated with a reduced risk of obesity, with an additive effect of -0.084 BMI per allele (an average of 0.54 pounds less, per allele, in a 5'6" individual). | 1 |
| 19 | KCNJ11-K23E | Low | Likely | Likely protective Unknown, Heterozygous | 0.738148 | This variant is associated with decreased risk of type 2 diabetes. It is unclear whether this variant has additive effects, or acts in a dominant or recessive manner. Assuming diabetes has a lifetime risk of 36%, we estimate a decreased risk of around 1-2% per copy of this variant. | 1 |
| 20 | MTR-D919G | Low | Uncertain | Uncertain protective Complex/Other, Heterozygous | 0.217234 | This variant was weakly associated with a protective effect vs. colorectal cancer, but only in individuals with low alcohol consumption. | 1 |
| 21 | OCA2-R419Q | Low | Likely | Likely benign Unknown, Heterozygous | 0.0565161 | This variant is associated with eye color, as is OCA2 R305W. Individuals with this variant are reported to be more likely to have green/hazel eyes as opposed to blue/gray eyes. Other variants in this gene are associated with oculocutaneous albinism (albinism which involves skin and eyes). | 1 |
| 22 | PMS2-P470S | Low | Likely | Likely benign Unknown, Heterozygous | 0.374884 | Benign, common variant. | 1 |
| 23 | VWF-G2705R | Low | Uncertain | Uncertain benign Unknown, Heterozygous | 0.0460123 | Probably benign, seems to be considered an uncommon polymorphism. | 1 |
| 24 | TYR-S192Y | Low | Uncertain | Uncertain benign Unknown, Homozygous | 0.270682 | This variant is reported to affect skin pigmentation. It is associated with lighter skin in South Asians (OR 4-5) and with a lack of freckles in Europeans (OR 1.3). | 1 |
| 25 | MLH3-E624Q | Low | Uncertain | Uncertain benign Unknown, Heterozygous | 0.00817996 | Probably benign, follow-up studies have failed to support any link with colorectal cancer and the protein function is identical to wildtype. | 1 |
| 26 | PKP2-L366P | Low | Uncertain | Uncertain benign Unknown, Heterozygous | 0.221231 | This variant is a benign polymorphism. | 1 |
| 27 | FAH-R341W | Low | Uncertain | Uncertain benign Recessive, Carrier (Heterozygous) | 0.0172895 | This variant shows pseudodeficiency for production of FAH protein which is connected with hereditary tyrosinemia type I. Pseudodeficiency was confirmed with site-directed mutagenesis and expression in a rabbit reticulocyte lysate system. The allelic frequency in 516 Norwegian controls was 0.022. | 1 |
| 28 | BRCA1-Q356R | Low | Uncertain | Uncertain benign Unknown, Heterozygous | 0.0462911 | One common variant associated this variant with an increased risk of breast cancer, but a more recent, larger study found no association. | 1 |
| 29 | APOB-Y1422C | Low | Uncertain | Uncertain benign Unknown, Homozygous | 0.999628 | This position is almost certainly an error in the HG18 reference sequence. | 1 |
| 30 | 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 |
| 31 | MAPT-R370W | Low | Uncertain | Uncertain benign Unknown, Heterozygous | 0.155549 | Probably benign. | 1 |
| 32 | 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 |
| 33 | PCSK9-G670E | Low | Uncertain | Uncertain benign Unknown, Homozygous | 0.888269 | This variant is likely benign. | 1 |
| 34 | TPCN2-G734E | Low | Uncertain | Uncertain benign Unknown, Heterozygous | 0.286166 | Pigmentation allele. | 1 |
| Row number | Variant | Prioritization score | Allele freq | Num of articles | Zygosity and Prioritization Score Reasons | Sufficient |
|---|
Exome coverage: 32936342 / 33282720 = 98.96%
| Row number | Gene | Chromosome | Coverage | Missing | Length | Missing regions |
|---|---|---|---|---|---|---|
| 1 | AGRN | 1 | 0.96937113066145 | 188 | 6138 | 955553-955591, 981861, 981867, 981968, 981976, 981982-981983, 983603-983745 |
| 2 | GABRD | 1 | 0.95437821927888 | 62 | 1359 | 1950863-1950908, 1950915-1950930 |
| 3 | PEX10 | 1 | 0.99898063200815 | 1 | 981 | 2338160 |
| 4 | ESPN | 1 | 0.85146198830409 | 381 | 2565 | 6488301-6488336, 6488378-6488384, 6488426-6488432, 6500712, 6500737-6500798, 6500830-6500868, 6501097-6501103, 6505726-6505738, 6505814-6505863, 6505872-6505903, 6505914-6505937, 6508701-6508705, 6508828-6508857, 6508882-6508888, 6511907-6511913, 6511936-6511975, 6512127-6512133, 6517286-6517292 |
| 5 | PLEKHG5 | 1 | 0.98682972718721 | 42 | 3189 | 6534123-6534127, 6534134-6534135, 6534520, 6534531-6534553, 6534559-6534569 |
| 6 | KIF1B | 1 | 0.99868247694335 | 7 | 5313 | 10357016, 10357037, 10381803-10381807 |
| 7 | TARDBP | 1 | 0.96144578313253 | 48 | 1245 | 11082322-11082362, 11082396-11082402 |
| 8 | CLCNKA | 1 | 0.98643410852713 | 28 | 2064 | 16349191-16349197, 16354391-16354397, 16358268-16358274, 16360141-16360147 |
| 9 | CLCNKB | 1 | 0.99321705426357 | 14 | 2064 | 16373044-16373050, 16383399-16383405 |
| 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 | ZMPSTE24 | 1 | 0.99789915966387 | 3 | 1428 | 40747196-40747198 |
| 14 | MPL | 1 | 0.99947589098532 | 1 | 1908 | 43818344 |
| 15 | MUTYH | 1 | 0.9993626513703 | 1 | 1569 | 45798776 |
| 16 | BSND | 1 | 0.99792315680166 | 2 | 963 | 55470714-55470715 |
| 17 | ALG6 | 1 | 0.99934640522876 | 1 | 1530 | 63885067 |
| 18 | LEPR | 1 | 0.99285305889079 | 25 | 3498 | 66083695-66083697, 66083807-66083828 |
| 19 | CTH | 1 | 0.99343185550082 | 8 | 1218 | 70883665, 70896006-70896012 |
| 20 | GLMN | 1 | 0.9921568627451 | 14 | 1785 | 92731978-92731984, 92731991-92731996, 92732009 |
| 21 | RPL5 | 1 | 0.99888143176734 | 1 | 894 | 93307391 |
| 22 | DPYD | 1 | 0.98213125406108 | 55 | 3078 | 97847950-97847951, 97847963-97847975, 97848004-97848006, 98144685-98144717, 98144732-98144735 |
| 23 | AGL | 1 | 0.99956512285279 | 2 | 4599 | 100340776, 100358063 |
| 24 | DBT | 1 | 0.99309868875086 | 10 | 1449 | 100681654-100681659, 100701036-100701039 |
| 25 | COL11A1 | 1 | 0.96994685724757 | 164 | 5457 | 103345383-103345394, 103364222-103364233, 103364235-103364246, 103364253-103364312, 103364326-103364329, 103364512-103364516, 103364545, 103412433, 103435775-103435786, 103435792-103435796, 103435802-103435825, 103470168, 103470177, 103548483-103548489, 103548497, 103548500-103548505 |
| 26 | GSTM1 | 1 | 0.55555555555556 | 292 | 657 | 110230496-110230531, 110230792-110230810, 110230838-110230841, 110230852-110230860, 110230866-110230867, 110231295-110231296, 110231302, 110231309, 110231687-110231695, 110231714, 110231721, 110231724-110231728, 110231742-110231743, 110231847-110231947, 110232897-110232941, 110232957, 110232965, 110232970-110232988, 110233081-110233089, 110233092-110233093, 110233096-110233098, 110233112-110233126, 110233137-110233138, 110233141-110233142 |
| 27 | VANGL1 | 1 | 0.99111111111111 | 14 | 1575 | 116194082-116194095 |
| 28 | CASQ2 | 1 | 0.99916666666667 | 1 | 1200 | 116244025 |
| 29 | NOTCH2 | 1 | 0.98085221143474 | 142 | 7416 | 120539665-120539714, 120539778-120539784, 120539913-120539919, 120539933-120539955, 120548051, 120548055, 120548091-120548097, 120572544-120572575, 120572609-120572610, 120611960, 120611999-120612009 |
| 30 | FLG | 1 | 0.99630723781388 | 45 | 12186 | 152276238, 152276668-152276674, 152277631-152277646, 152279210-152279222, 152279403-152279409, 152284961 |
| 31 | GBA | 1 | 0.99415204678363 | 7 | 1197 | 155186652-155186658 |
| 32 | GBA | 1 | 0.99565487274984 | 7 | 1611 | 155205040-155205046 |
| 33 | TBX19 | 1 | 0.9992576095026 | 1 | 1347 | 168274320 |
| 34 | F5 | 1 | 0.98531835205993 | 98 | 6675 | 169510269-169510296, 169510325-169510344, 169510351-169510383, 169510502, 169510515, 169510524, 169510634-169510640, 169511618-169511624 |
| 35 | RNASEL | 1 | 0.99326145552561 | 15 | 2226 | 182545510-182545524 |
| 36 | HMCN1 | 1 | 0.99875798438609 | 21 | 16908 | 185932974, 185932977-185932989, 185947095-185947097, 185947108-185947110, 186022105 |
| 37 | PDC | 1 | 0.98920377867746 | 8 | 741 | 186418568-186418575 |
| 38 | CFH | 1 | 0.96996753246753 | 111 | 3696 | 196648800-196648801, 196648812, 196648834-196648839, 196658632-196658654, 196658684, 196658688-196658689, 196658713, 196658726, 196682884-196682925, 196706605-196706614, 196706728-196706749 |
| 39 | CFHR1 | 1 | 0.95669687814703 | 43 | 993 | 196797200-196797207, 196797213-196797247 |
| 40 | CFHR5 | 1 | 0.97017543859649 | 51 | 1710 | 196953119-196953121, 196953156, 196967331-196967377 |
| 41 | ASPM | 1 | 0.99875407322216 | 13 | 10434 | 197069722, 197097793-197097795, 197101415-197101420, 197113194, 197113214-197113215 |
| 42 | USH2A | 1 | 0.99897495034916 | 16 | 15609 | 215916581-215916583, 215916605, 215916615, 216251466-216251475, 216369963 |
| 43 | LBR | 1 | 0.99134199134199 | 16 | 1848 | 225591068-225591083 |
| 44 | GJC2 | 1 | 0.93636363636364 | 84 | 1320 | 228345790-228345791, 228345913-228345915, 228346349-228346381, 228346396-228346409, 228346416-228346447 |
| 45 | LYST | 1 | 0.98965456777135 | 118 | 11406 | 235907289-235907325, 235907379-235907381, 235907384, 235907451, 235944168, 235944197-235944240, 235944262-235944268, 235950500-235950523 |
| 46 | MTR | 1 | 0.99657714586625 | 13 | 3798 | 237013657-237013669 |
| 47 | RYR2 | 1 | 0.99865807836822 | 20 | 14904 | 237821256, 237821270-237821272, 237821277, 237821285-237821287, 237824114, 237824171, 237824174, 237824177-237824179, 237824188-237824191, 237881770, 237944941 |
| 48 | CUBN | 10 | 0.99990802060338 | 1 | 10872 | 17142004 |
| 49 | PDSS1 | 10 | 0.99519230769231 | 6 | 1248 | 26993648, 26994240, 26994294, 26994297-26994298, 27024506 |
| 50 | ERCC6 | 10 | 0.99732262382865 | 12 | 4482 | 50738780-50738791 |
| 51 | CHAT | 10 | 0.93012906097018 | 157 | 2247 | 50822272-50822428 |
| 52 | PCDH15 | 10 | 0.99507556461199 | 29 | 5889 | 55719508-55719510, 55826568-55826570, 55826573, 56128978-56128981, 56128988, 56128991-56128994, 56138675, 56138679, 56138691-56138701 |
| 53 | KIAA1279 | 10 | 0.9924973204716 | 14 | 1866 | 70764863-70764876 |
| 54 | PRF1 | 10 | 0.99940047961631 | 1 | 1668 | 72358283 |
| 55 | CDH23 | 10 | 0.99900556881464 | 10 | 10056 | 73206075-73206084 |
| 56 | PSAP | 10 | 0.99936507936508 | 1 | 1575 | 73579578 |
| 57 | BMPR1A | 10 | 0.99937460913071 | 1 | 1599 | 88683146 |
| 58 | GLUD1 | 10 | 0.99582587954681 | 7 | 1677 | 88836362-88836368 |
| 59 | PTEN | 10 | 0.9983498349835 | 2 | 1212 | 89720651-89720652 |
| 60 | ABCC2 | 10 | 0.9995687796464 | 2 | 4638 | 101577108, 101577111 |
| 61 | PAX2 | 10 | 0.99461123941493 | 7 | 1299 | 102587327-102587333 |
| 62 | HPS6 | 10 | 0.99269759450172 | 17 | 2328 | 103827020-103827023, 103827379-103827391 |
| 63 | SUFU | 10 | 0.99312714776632 | 10 | 1455 | 104263974-104263980, 104263994, 104263998, 104264005 |
| 64 | COL17A1 | 10 | 0.99955496217178 | 2 | 4494 | 105816811, 105816814 |
| 65 | HTRA1 | 10 | 0.997920997921 | 3 | 1443 | 124221198-124221200 |
| 66 | ACADSB | 10 | 0.99846035411855 | 2 | 1299 | 124810701-124810702 |
| 67 | TALDO1 | 11 | 0.99605522682446 | 4 | 1014 | 763344-763346, 763351 |
| 68 | CTSD | 11 | 0.99838579499596 | 2 | 1239 | 1785078, 1785085 |
| 69 | TH | 11 | 0.99047619047619 | 15 | 1575 | 2191921, 2191945-2191948, 2191951-2191953, 2191958-2191964 |
| 70 | CDKN1C | 11 | 0.89484752891693 | 100 | 951 | 2905947, 2906087-2906121, 2906126, 2906134-2906141, 2906144, 2906147-2906153, 2906167-2906172, 2906181-2906188, 2906207-2906214, 2906225-2906247, 2906250-2906251 |
| 71 | SMPD1 | 11 | 0.99630801687764 | 7 | 1896 | 6411935-6411941 |
| 72 | SBF2 | 11 | 0.99981981981982 | 1 | 5550 | 10052612 |
| 73 | USH1C | 11 | 0.99592592592593 | 11 | 2700 | 17530927-17530937 |
| 74 | ANO5 | 11 | 0.9781181619256 | 60 | 2742 | 22277004-22277014, 22277020-22277068 |
| 75 | PDHX | 11 | 0.99601593625498 | 6 | 1506 | 34991775-34991780 |
| 76 | MADD | 11 | 0.99817961165049 | 9 | 4944 | 47331112-47331120 |
| 77 | MYBPC3 | 11 | 0.99660130718954 | 13 | 3825 | 47367855-47367867 |
| 78 | LRP5 | 11 | 0.99793729372937 | 10 | 4848 | 68080215-68080222, 68080238, 68207288 |
| 79 | DHCR7 | 11 | 0.99859943977591 | 2 | 1428 | 71146577, 71146580 |
| 80 | MYO7A | 11 | 0.9996991576414 | 2 | 6648 | 76922292-76922293 |
| 81 | TYR | 11 | 0.99559748427673 | 7 | 1590 | 89018058-89018064 |
| 82 | DYNC2H1 | 11 | 0.97195828505214 | 363 | 12945 | 102984289, 102984310-102984328, 102984330, 102984336, 102984348-102984353, 102984375, 102984379, 102984386, 102984408, 102991507, 102991510-102991513, 102999709-102999713, 102999725, 103026065, 103029421-103029430, 103029440-103029451, 103029471-103029479, 103031666-103031714, 103031729-103031758, 103036700, 103036736-103036737, 103036755-103036758, 103043811-103043845, 103043887, 103043917, 103044003-103044006, 103049761-103049791, 103052518, 103052598-103052604, 103059226-103059231, 103059264, 103059269, 103059280-103059282, 103059344-103059373, 103062990, 103070093, 103070162, 103070190, 103082534-103082552, 103082558, 103082615, 103130617-103130619, 103130704, 103152937-103152958, 103153743-103153756, 103187332, 103187335-103187349 |
| 83 | ATM | 11 | 0.99313052011776 | 63 | 9171 | 108126971-108126973, 108126997-108126999, 108127003, 108127009-108127014, 108127019-108127067, 108196170 |
| 84 | DLAT | 11 | 0.99742798353909 | 5 | 1944 | 111909978, 111909984-111909987 |
| 85 | TECTA | 11 | 0.99984532095901 | 1 | 6465 | 121028713 |
| 86 | ROBO3 | 11 | 0.99807738524393 | 8 | 4161 | 124739423-124739426, 124739431-124739434 |
| 87 | CACNA1C | 12 | 0.99893308946807 | 7 | 6561 | 2794934-2794940 |
| 88 | VWF | 12 | 0.97666429755982 | 197 | 8442 | 6122647-6122650, 6125338-6125344, 6125722-6125728, 6127532-6127538, 6127640, 6127658, 6127782-6127788, 6127943, 6128064-6128079, 6128167-6128173, 6128297-6128303, 6128333-6128357, 6128443, 6128449-6128451, 6128476-6128508, 6128554-6128560, 6128784-6128790, 6131925-6131932, 6131955-6131982, 6132030, 6135112-6135130 |
| 89 | ATN1 | 12 | 0.99440246291632 | 20 | 3573 | 7045600, 7045603-7045604, 7045607-7045608, 7045892-7045900, 7045909-7045910, 7045923-7045924, 7050615-7050616 |
| 90 | GYS2 | 12 | 0.99905303030303 | 2 | 2112 | 21712032-21712033 |
| 91 | ABCC9 | 12 | 0.99548387096774 | 21 | 4650 | 21962820, 21962823-21962824, 21998563, 22063777, 22063785-22063795, 22063801-22063805 |
| 92 | KIF21A | 12 | 0.99438427597272 | 28 | 4986 | 39750663-39750664, 39761690, 39761756-39761778, 39761826-39761827 |
| 93 | LRRK2 | 12 | 0.98259493670886 | 132 | 7584 | 40634338-40634343, 40645140-40645173, 40688688, 40688702, 40734205, 40742221, 40761446-40761462, 40761471-40761527, 40761533-40761536, 40761548, 40761559-40761567 |
| 94 | IRAK4 | 12 | 0.98915401301518 | 15 | 1383 | 44166728, 44180221-44180222, 44180235, 44180332-44180342 |
| 95 | MLL2 | 12 | 0.99969904899482 | 5 | 16614 | 49426931, 49427266-49427268, 49431874 |
| 96 | TUBA1A | 12 | 0.91008771929825 | 41 | 456 | 49522195-49522211, 49522260-49522266, 49522300-49522315, 49522578 |
| 97 | KRT81 | 12 | 0.99934123847167 | 1 | 1518 | 52684024 |
| 98 | KRT86 | 12 | 0.99452429842574 | 8 | 1461 | 52696930, 52699545-52699551 |
| 99 | KRT83 | 12 | 0.99865047233468 | 2 | 1482 | 52710279, 52710309 |
| 100 | KRT6B | 12 | 0.95811209439528 | 71 | 1695 | 52841338-52841344, 52843578-52843584, 52844243, 52844246, 52844265, 52845528-52845534, 52845598-52845604, 52845662-52845686, 52845713-52845719, 52845797-52845804 |
| 101 | KRT6C | 12 | 0.94336283185841 | 96 | 1695 | 52863213, 52865900-52865928, 52866060, 52867091-52867108, 52867187-52867193, 52867257-52867263, 52867321-52867346, 52867457-52867463 |
| 102 | KRT6A | 12 | 0.95162241887906 | 82 | 1695 | 52881853-52881874, 52884642-52884647, 52886553-52886559, 52886638-52886644, 52886708-52886714, 52886772-52886797, 52886908-52886914 |
| 103 | KRT5 | 12 | 0.99717992103779 | 5 | 1773 | 52908890-52908891, 52908903-52908905 |
| 104 | KRT1 | 12 | 0.99793281653747 | 4 | 1935 | 53072516-53072519 |
| 105 | LEMD3 | 12 | 0.9890350877193 | 30 | 2736 | 65563620-65563622, 65563626-65563629, 65612339, 65612353-65612360, 65612386-65612399 |
| 106 | TPH2 | 12 | 0.9918533604888 | 12 | 1473 | 72366345-72366356 |
| 107 | CEP290 | 12 | 0.96922043010753 | 229 | 7440 | 88443086-88443090, 88462299-88462301, 88465610, 88465691, 88472931, 88472986, 88479860, 88490691-88490734, 88496712-88496714, 88502932-88502946, 88505481-88505482, 88505521-88505522, 88505586-88505590, 88505613-88505615, 88505622, 88505633-88505634, 88513946, 88513989-88514037, 88519023-88519026, 88519058-88519066, 88519079-88519081, 88519085, 88519089-88519093, 88519111, 88519134-88519146, 88520196, 88520207-88520211, 88522723-88522730, 88522785-88522790, 88522796-88522801, 88530485-88530498, 88534733, 88534746-88534757 |
| 108 | TMPO | 12 | 0.99232613908873 | 16 | 2085 | 98921668-98921683 |
| 109 | SYCP3 | 12 | 0.9507735583685 | 35 | 711 | 102122901, 102122922, 102125411-102125443 |
| 110 | GNPTAB | 12 | 0.99867409175285 | 5 | 3771 | 102142894-102142896, 102151087-102151088 |
| 111 | ATXN2 | 12 | 0.97640791476408 | 93 | 3942 | 111947392, 112036738-112036741, 112036747-112036749, 112036752-112036764, 112036766-112036771, 112036775-112036783, 112036787, 112036791-112036793, 112036797, 112036799-112036806, 112036895-112036911, 112036923-112036924, 112037020-112037044 |
| 112 | PUS1 | 12 | 0.99844236760125 | 2 | 1284 | 132426012-132426013 |
| 113 | SACS | 13 | 0.99898107714702 | 14 | 13740 | 23908437-23908440, 23908633-23908637, 23908643-23908647 |
| 114 | CENPJ | 13 | 0.99925317401046 | 3 | 4017 | 25480448-25480450 |
| 115 | BRCA2 | 13 | 0.99961002242371 | 4 | 10257 | 32918779-32918782 |
| 116 | FREM2 | 13 | 0.99989484752892 | 1 | 9510 | 39263459 |
| 117 | RB1 | 13 | 0.9967707212056 | 9 | 2787 | 48934208-48934211, 48941654, 48947561, 48947573, 48947577, 48947581 |
| 118 | SLITRK1 | 13 | 0.99952175992348 | 1 | 2091 | 84454227 |
| 119 | ZIC2 | 13 | 0.92120075046904 | 126 | 1599 | 100634408-100634414, 100637739, 100637742, 100637786, 100637821-100637936 |
| 120 | PCCA | 13 | 0.98262459990855 | 38 | 2187 | 100764095-100764097, 100764100-100764101, 100861646, 100909872-100909879, 100909899-100909922 |
| 121 | ERCC5 | 13 | 0.99457419202642 | 23 | 4239 | 103468800-103468808, 103468827, 103506711-103506723 |
| 122 | PABPN1 | 14 | 0.85233441910966 | 136 | 921 | 23790794-23790814, 23790853-23790899, 23790918-23790985 |
| 123 | MYH7 | 14 | 0.99931129476584 | 4 | 5808 | 23900185-23900188 |
| 124 | NRL | 14 | 0.98879551820728 | 8 | 714 | 24550656-24550663 |
| 125 | PCK2 | 14 | 0.99895995839834 | 2 | 1923 | 24568258-24568259 |
| 126 | FOXG1 | 14 | 0.80136054421769 | 292 | 1470 | 29236638, 29236659-29236949 |
| 127 | NKX2-1 | 14 | 0.99336650082919 | 8 | 1206 | 36986894, 36988373-36988379 |
| 128 | FANCM | 14 | 0.97950219619327 | 126 | 6147 | 45623909-45623915, 45623943-45623976, 45623981-45624012, 45624016-45624025, 45645812, 45650633-45650635, 45650675-45650707, 45650711-45650713, 45650846, 45650854, 45653039 |
| 129 | SYNE2 | 14 | 0.9992762015055 | 15 | 20724 | 64518330, 64522804-64522805, 64522823-64522828, 64522840, 64556365-64556367, 64556401, 64556414 |
| 130 | ZFYVE26 | 14 | 0.99685039370079 | 24 | 7620 | 68241769-68241784, 68274210-68274217 |
| 131 | MLH3 | 14 | 0.99679046309033 | 14 | 4362 | 75514888-75514901 |
| 132 | GALC | 14 | 0.99854227405248 | 3 | 2058 | 88416274-88416275, 88448552 |
| 133 | SPATA7 | 14 | 0.98333333333333 | 30 | 1800 | 88859751-88859752, 88859756-88859758, 88859761-88859763, 88859786-88859788, 88859809-88859810, 88883162-88883178 |
| 134 | TTC8 | 14 | 0.99095607235142 | 14 | 1548 | 89305822-89305824, 89305837-89305839, 89305845-89305850, 89327566, 89327571 |
| 135 | ATXN3 | 14 | 0.94290976058932 | 62 | 1086 | 92537377-92537379, 92559596-92559651, 92559660-92559662 |
| 136 | VRK1 | 14 | 0.94794290512175 | 62 | 1191 | 97304099-97304154, 97322535-97322540 |
| 137 | INF2 | 14 | 0.92746666666667 | 272 | 3750 | 105173859-105174127, 105174187-105174189 |
| 138 | NIPA1 | 15 | 0.82020202020202 | 178 | 990 | 23086234-23086411 |
| 139 | SPRED1 | 15 | 0.99850187265918 | 2 | 1335 | 38614495-38614496 |
| 140 | CHST14 | 15 | 0.99381078691424 | 7 | 1131 | 40763416, 40763437-40763440, 40763458, 40763521 |
| 141 | TTBK2 | 15 | 0.99759036144578 | 9 | 3735 | 43103887-43103893, 43103939, 43164857 |
| 142 | STRC | 15 | 0.99493243243243 | 27 | 5328 | 43897542-43897562, 43910867-43910872 |
| 143 | SPG11 | 15 | 0.99972722313148 | 2 | 7332 | 44914518-44914519 |
| 144 | FBN1 | 15 | 0.99953574744661 | 4 | 8616 | 48773970-48773973 |
| 145 | CEP152 | 15 | 0.99838872104733 | 8 | 4965 | 49036437-49036442, 49036453, 49073404 |
| 146 | HCN4 | 15 | 0.99197120708749 | 29 | 3612 | 73624536-73624545, 73660364-73660371, 73660406-73660416 |
| 147 | RPS17 | 15 | 0.93627450980392 | 26 | 408 | 82823368-82823393 |
| 148 | RPS17 | 15 | 0.93627450980392 | 26 | 408 | 83207711-83207736 |
| 149 | POLG | 15 | 0.99650537634409 | 13 | 3720 | 89876828-89876833, 89876852-89876858 |
| 150 | MESP2 | 15 | 0.97989949748744 | 24 | 1194 | 90320121-90320144 |
| 151 | BLM | 15 | 0.97132110954396 | 122 | 4254 | 91310231, 91337417-91337462, 91337513-91337587 |
| 152 | HBZ | 16 | 0.95804195804196 | 18 | 429 | 203955-203956, 203959-203966, 203971, 204271-204272, 204305, 204308-204311 |
| 153 | GFER | 16 | 0.99352750809061 | 4 | 618 | 2034314-2034316, 2034339 |
| 154 | PKD1 | 16 | 0.92836121437423 | 925 | 12912 | 2140955-2140983, 2141162, 2147731-2147774, 2147914-2147920, 2147958-2147985, 2149962-2149979, 2150059, 2150478-2150521, 2152126-2152132, 2152168-2152174, 2152249-2152257, 2152965-2152971, 2153551-2153557, 2153592-2153598, 2153711-2153741, 2153764-2153782, 2153820-2153854, 2154570-2154612, 2155981-2156024, 2156241-2156254, 2156429-2156448, 2156520-2156526, 2156600, 2156610, 2156900-2156941, 2158419, 2159311-2159344, 2159403-2159409, 2159712-2159718, 2159808-2159814, 2159960-2159966, 2160134-2160140, 2160769-2160775, 2161097, 2161601-2161607, 2161782, 2161861-2161867, 2163179-2163185, 2163251, 2164172-2164214, 2164354, 2164487-2164493, 2164563-2164569, 2164803-2164838, 2164911-2164917, 2166564-2166595, 2166863-2166869, 2166915-2166921, 2166976-2166982, 2167041-2167047, 2167591-2167598, 2167870-2167878, 2167969-2168000, 2168056-2168075, 2168131-2168170, 2168209-2168237, 2168264-2168270, 2168365-2168367, 2169115-2169140, 2185592-2185598, 2185669, 2185672-2185677, 2185680-2185681 |
| 155 | SLX4 | 16 | 0.99945504087193 | 3 | 5505 | 3652220-3652222 |
| 156 | CREBBP | 16 | 0.99877200163733 | 9 | 7329 | 3779331-3779332, 3779336-3779342 |
| 157 | ALG1 | 16 | 0.94336917562724 | 79 | 1395 | 5130949-5130975, 5130993-5131037, 5134815-5134821 |
| 158 | ABCC6 | 16 | 0.9873670212766 | 57 | 4512 | 16315555-16315589, 16315644-16315665 |
| 159 | CLN3 | 16 | 0.99392558845862 | 8 | 1317 | 28497679-28497682, 28497689-28497692 |
| 160 | PHKG2 | 16 | 0.98443898443898 | 19 | 1221 | 30760169-30760172, 30760189, 30760213-30760221, 30760232-30760236 |
| 161 | SLC5A2 | 16 | 0.99603764239723 | 8 | 2019 | 31500053-31500056, 31500065-31500068 |
| 162 | SALL1 | 16 | 0.99396226415094 | 24 | 3975 | 51175645-51175668 |
| 163 | RPGRIP1L | 16 | 0.99366767983789 | 25 | 3948 | 53672231-53672233, 53672302-53672323 |
| 164 | BBS2 | 16 | 0.99953831948292 | 1 | 2166 | 56531736 |
| 165 | GPR56 | 16 | 0.99418604651163 | 12 | 2064 | 57689311-57689322 |
| 166 | CNGB1 | 16 | 0.99574014909478 | 16 | 3756 | 57949169-57949184 |
| 167 | HSD11B2 | 16 | 0.98111658456486 | 23 | 1218 | 67465166-67465185, 67469998-67470000 |
| 168 | LCAT | 16 | 0.99848828420257 | 2 | 1323 | 67976444-67976445 |
| 169 | CDH1 | 16 | 0.99962249905625 | 1 | 2649 | 68771352 |
| 170 | GCSH | 16 | 0.96934865900383 | 16 | 522 | 81116473-81116480, 81116504, 81116543-81116549 |
| 171 | MLYCD | 16 | 0.99932523616734 | 1 | 1482 | 83932988 |
| 172 | JPH3 | 16 | 0.99910992434357 | 2 | 2247 | 87723699-87723700 |
| 173 | SPG7 | 16 | 0.99664991624791 | 8 | 2388 | 89579413-89579420 |
| 174 | FANCA | 16 | 0.99885531135531 | 5 | 4368 | 89805931-89805934, 89874775 |
| 175 | PRPF8 | 17 | 0.99728881278539 | 19 | 7008 | 1583061-1583079 |
| 176 | PITPNM3 | 17 | 0.99863247863248 | 4 | 2925 | 6358796-6358799 |
| 177 | GUCY2D | 17 | 0.9987922705314 | 4 | 3312 | 7906371-7906374 |
| 178 | HES7 | 17 | 0.99705014749263 | 2 | 678 | 8025733-8025734 |
| 179 | ELAC2 | 17 | 0.99556630390971 | 11 | 2481 | 12896189-12896199 |
| 180 | COX10 | 17 | 0.99474474474474 | 7 | 1332 | 14095345-14095351 |
| 181 | FLCN | 17 | 0.99022988505747 | 17 | 1740 | 17122467-17122483 |
| 182 | RAI1 | 17 | 0.99667890228981 | 19 | 5721 | 17697099-17697105, 17697119-17697128, 17698870-17698871 |
| 183 | MYO15A | 17 | 0.99848956858303 | 16 | 10593 | 18025416-18025429, 18025705-18025706 |
| 184 | UNC119 | 17 | 0.99031811894882 | 7 | 723 | 26879409, 26879434-26879438, 26879457 |
| 185 | SLC6A4 | 17 | 0.99524564183835 | 9 | 1893 | 28545903-28545911 |
| 186 | NF1 | 17 | 0.9981220657277 | 16 | 8520 | 29422379-29422382, 29586075-29586083, 29586090, 29586093, 29664844 |
| 187 | KRT10 | 17 | 0.96239316239316 | 66 | 1755 | 38975160-38975186, 38975205-38975235, 38975288, 38975305, 38975311, 38975315-38975319 |
| 188 | KRT14 | 17 | 0.9830866807611 | 24 | 1419 | 39738749-39738763, 39741304-39741309, 39742850-39742852 |
| 189 | KRT16 | 17 | 0.91772151898734 | 117 | 1422 | 39766265-39766281, 39766585-39766591, 39768412-39768453, 39768490-39768496, 39768658-39768664, 39768723-39768759 |
| 190 | KRT17 | 17 | 0.93533487297921 | 84 | 1299 | 39778655-39778661, 39780414-39780440, 39780465-39780471, 39780515-39780540, 39780555-39780571 |
| 191 | STAT5B | 17 | 0.9826565143824 | 41 | 2364 | 40371359-40371399 |
| 192 | WNK4 | 17 | 0.9989281886388 | 4 | 3732 | 40947173-40947176 |
| 193 | SOST | 17 | 0.99376947040498 | 4 | 642 | 41832884, 41832887-41832889 |
| 194 | GRN | 17 | 0.99551066217733 | 8 | 1782 | 42430114-42430121 |
| 195 | PLEKHM1 | 17 | 0.99463891516872 | 17 | 3171 | 43516861-43516867, 43552534-43552540, 43552717, 43552921, 43555449 |
| 196 | BRIP1 | 17 | 0.99653333333333 | 13 | 3750 | 59793316, 59793319, 59793329, 59793400-59793407, 59793423-59793424 |
| 197 | ACE | 17 | 0.99693955623565 | 12 | 3921 | 61554467-61554470, 61554479-61554485, 61554493 |
| 198 | USH1G | 17 | 0.997113997114 | 4 | 1386 | 72919015-72919018 |
| 199 | SEPT9 | 17 | 0.92277115275412 | 136 | 1761 | 75494605-75494740 |
| 200 | NDUFV2 | 18 | 0.99866666666667 | 1 | 750 | 9119575 |
| 201 | NPC1 | 18 | 0.99973937972374 | 1 | 3837 | 21124945 |
| 202 | LAMA3 | 18 | 0.999900019996 | 1 | 10002 | 21269659 |
| 203 | DSC3 | 18 | 0.99405425492382 | 16 | 2691 | 28581608, 28581626, 28581656, 28598080-28598091, 28602328 |
| 204 | DSC2 | 18 | 0.99963045084996 | 1 | 2706 | 28659851 |
| 205 | MYO5B | 18 | 0.99206778438796 | 44 | 5547 | 47352944-47352980, 47363914-47363920 |
| 206 | SMAD4 | 18 | 0.98553345388788 | 24 | 1659 | 48593455-48593477, 48603089 |
| 207 | ATP8B1 | 18 | 0.99920127795527 | 3 | 3756 | 55315827, 55315830, 55364852 |
| 208 | CCBE1 | 18 | 0.998361998362 | 2 | 1221 | 57134038-57134039 |
| 209 | TNFRSF11A | 18 | 0.99081577525662 | 17 | 1851 | 59992600-59992602, 59992615-59992627, 59992631 |
| 210 | ELANE | 19 | 0.90547263681592 | 76 | 804 | 853269-853276, 853278, 853286-853340, 853343-853353, 853366 |
| 211 | KISS1R | 19 | 0.97243107769424 | 33 | 1197 | 920620-920645, 920655-920661 |
| 212 | MAP2K2 | 19 | 0.92352452202826 | 92 | 1203 | 4123781-4123872 |
| 213 | PNPLA6 | 19 | 0.99974899598394 | 1 | 3984 | 7605177 |
| 214 | PRKCSH | 19 | 0.99810964083176 | 3 | 1587 | 11558341-11558343 |
| 215 | CACNA1A | 19 | 0.99348490892169 | 49 | 7521 | 13318673-13318694, 13318799-13318807, 13318810-13318814, 13318826-13318830, 13318843-13318844, 13318848, 13318851-13318852, 13319692-13319694 |
| 216 | NOTCH3 | 19 | 0.99468848693655 | 37 | 6966 | 15271907-15271909, 15311645-15311649, 15311673-15311701 |
| 217 | JAK3 | 19 | 0.98844444444444 | 39 | 3375 | 17940951-17940969, 17949121-17949140 |
| 218 | COMP | 19 | 0.99868073878628 | 3 | 2274 | 18893752-18893754 |
| 219 | CEBPA | 19 | 0.99350046425255 | 7 | 1077 | 33793008-33793010, 33793162, 33793213, 33793224, 33793230 |
| 220 | SCN1B | 19 | 0.95043370508055 | 40 | 807 | 35521725-35521764 |
| 221 | NPHS1 | 19 | 0.99919484702093 | 3 | 3726 | 36317478-36317480 |
| 222 | RYR1 | 19 | 0.9997353972349 | 4 | 15117 | 38931391, 39055813, 39055827, 39055831 |
| 223 | ACTN4 | 19 | 0.99963450292398 | 1 | 2736 | 39138458 |
| 224 | PRX | 19 | 0.9922480620155 | 34 | 4386 | 40901320-40901328, 40909685, 40909712-40909720, 40909728-40909734, 40909740-40909745, 40909768-40909769 |
| 225 | ATP1A3 | 19 | 0.9994562262099 | 2 | 3678 | 42471000, 42480579 |
| 226 | SIX5 | 19 | 0.99414414414414 | 13 | 2220 | 46269094-46269096, 46269099-46269100, 46269103, 46270180-46270186 |
| 227 | DMPK | 19 | 0.99153439153439 | 16 | 1890 | 46285591-46285597, 46285602-46285610 |
| 228 | DBP | 19 | 0.99386503067485 | 6 | 978 | 49138878-49138883 |
| 229 | MED25 | 19 | 0.99955436720143 | 1 | 2244 | 50339524 |
| 230 | KCNC3 | 19 | 0.88786279683377 | 255 | 2274 | 50823503-50823583, 50826352, 50826434-50826439, 50831948-50831956, 50832152, 50832183-50832339 |
| 231 | NLRP12 | 19 | 0.9978028876334 | 7 | 3186 | 54310769-54310775 |
| 232 | PRKCG | 19 | 0.98853868194842 | 24 | 2094 | 54392899, 54393147, 54393236-54393238, 54393243, 54403973-54403979, 54410083-54410093 |
| 233 | TNNT1 | 19 | 0.99873257287706 | 1 | 789 | 55652279 |
| 234 | KLF11 | 2 | 0.9993502274204 | 1 | 1539 | 10183878 |
| 235 | APOB | 2 | 0.99985392930178 | 2 | 13692 | 21227198-21227199 |
| 236 | OTOF | 2 | 0.98048048048048 | 117 | 5994 | 26699759-26699827, 26699836, 26699839, 26699846-26699855, 26699872-26699884, 26699891-26699911, 26712607-26712608 |
| 237 | ALK | 2 | 0.99424223730208 | 28 | 4863 | 29451757-29451763, 29451766-29451767, 29451781-29451799 |
| 238 | SPAST | 2 | 0.94867639113992 | 95 | 1851 | 32289035, 32289085, 32289093, 32289137, 32289141-32289146, 32289154-32289185, 32289188-32289200, 32289210, 32289216-32289235, 32289240-32289247, 32289251, 32312577, 32340822, 32340842, 32340865, 32340868, 32341202, 32366980-32366983 |
| 239 | SOS1 | 2 | 0.99975012493753 | 1 | 4002 | 39224552 |
| 240 | LRPPRC | 2 | 0.99976105137395 | 1 | 4185 | 44121716 |
| 241 | SIX3 | 2 | 0.99299299299299 | 7 | 999 | 45169366, 45169369-45169374 |
| 242 | MSH2 | 2 | 0.99964349376114 | 1 | 2805 | 47710018 |
| 243 | MSH6 | 2 | 0.99975508204751 | 1 | 4083 | 48010544 |
| 244 | NRXN1 | 2 | 0.99751412429379 | 11 | 4425 | 50149151-50149161 |
| 245 | EFEMP1 | 2 | 0.99797570850202 | 3 | 1482 | 56094221, 56102116-56102117 |
| 246 | PEX13 | 2 | 0.9983498349835 | 2 | 1212 | 61258868-61258869 |
| 247 | ALMS1 | 2 | 0.99640115163148 | 45 | 12504 | 73612997-73613001, 73613015-73613040, 73613043-73613046, 73679412, 73679415-73679416, 73827996-73828002 |
| 248 | DCTN1 | 2 | 0.99973937972374 | 1 | 3837 | 74598107 |
| 249 | HTRA2 | 2 | 0.99927378358751 | 1 | 1377 | 74757208 |
| 250 | SFTPB | 2 | 0.99912739965096 | 1 | 1146 | 85892790 |
| 251 | EIF2AK3 | 2 | 0.99880632646971 | 4 | 3351 | 88887500, 88926730-88926732 |
| 252 | SNRNP200 | 2 | 0.99734830759632 | 17 | 6411 | 96962679-96962695 |
| 253 | RANBP2 | 2 | 0.92093023255814 | 765 | 9675 | 109345588-109345601, 109345650-109345655, 109347230, 109347317-109347341, 109347929-109347930, 109352040-109352055, 109352075-109352118, 109357050-109357079, 109357110-109357126, 109363189-109363217, 109365388-109365429, 109367754, 109367841-109367874, 109367984-109367989, 109368046-109368080, 109368104-109368110, 109369454-109369455, 109369543-109369554, 109369882-109369883, 109370292-109370327, 109370345-109370375, 109370395-109370401, 109371399, 109371402, 109371495-109371533, 109374869-109374872, 109374901-109374918, 109382748-109382754, 109382787-109382793, 109382889-109382896, 109382937-109382946, 109383052-109383058, 109383084-109383113, 109383142-109383148, 109383204-109383232, 109383268-109383289, 109383315-109383321, 109383354-109383360, 109383635-109383641, 109383676-109383682, 109383768-109383798, 109383822-109383828, 109383885-109383891, 109384004-109384013, 109384285-109384291, 109384542-109384567, 109384609-109384652, 109398624-109398639 |
| 254 | GLI2 | 2 | 0.99957992018484 | 2 | 4761 | 121746202, 121746213 |
| 255 | CFC1 | 2 | 0.96875 | 21 | 672 | 131280363-131280383 |
| 256 | RAB3GAP1 | 2 | 0.99966055668703 | 1 | 2946 | 135848590 |
| 257 | ZEB2 | 2 | 0.9997256515775 | 1 | 3645 | 145147119 |
| 258 | MMADHC | 2 | 0.97867564534231 | 19 | 891 | 150426563-150426574, 150427653-150427659 |
| 259 | NEB | 2 | 0.99654550916191 | 69 | 19974 | 152432744-152432767, 152432780-152432785, 152432812-152432817, 152432821, 152432837, 152511784-152511787, 152566187-152566200, 152584404-152584416 |
| 260 | SCN2A | 2 | 0.99734130940512 | 16 | 6018 | 166211137, 166211141-166211145, 166211158-166211162, 166211172-166211176 |
| 261 | SCN9A | 2 | 0.99814627569936 | 11 | 5934 | 167060973, 167083166, 167099108-167099111, 167163026-167163030 |
| 262 | SLC25A12 | 2 | 0.99950908198331 | 1 | 2037 | 172683343 |
| 263 | CHN1 | 2 | 0.99927536231884 | 1 | 1380 | 175816915 |
| 264 | AGPS | 2 | 0.95042994436014 | 98 | 1977 | 178346787-178346819, 178346824-178346835, 178346846-178346869, 178346872, 178346879-178346885, 178346888, 178362468-178362475, 178362478, 178362483-178362493 |
| 265 | PRKRA | 2 | 0.99893842887473 | 1 | 942 | 179315717 |
| 266 | DFNB59 | 2 | 0.99905571293673 | 1 | 1059 | 179318294 |
| 267 | TTN | 2 | 0.99987032160243 | 13 | 100248 | 179523774-179523780, 179561851, 179650756-179650760 |
| 268 | COL3A1 | 2 | 0.99522835719155 | 21 | 4401 | 189870102, 189871663-189871678, 189871681-189871683, 189872661 |
| 269 | COL5A2 | 2 | 0.99755555555556 | 11 | 4500 | 189910583-189910591, 189916902-189916903 |
| 270 | PMS1 | 2 | 0.98535191139693 | 41 | 2799 | 190718667, 190718678, 190718693-190718717, 190718771-190718773, 190718781-190718788, 190718799-190718801 |
| 271 | HSPD1 | 2 | 0.98954703832753 | 18 | 1722 | 198351826-198351843 |
| 272 | ALS2 | 2 | 0.99959790912746 | 2 | 4974 | 202626390-202626391 |
| 273 | BMPR2 | 2 | 0.99967917869747 | 1 | 3117 | 203378543 |
| 274 | NDUFS1 | 2 | 0.99908424908425 | 2 | 2184 | 207017218, 207017224 |
| 275 | ABCA12 | 2 | 0.99640472521828 | 28 | 7788 | 215854153-215854157, 215854170-215854176, 215854186-215854187, 215876218-215876231 |
| 276 | SMARCAL1 | 2 | 0.99965095986038 | 1 | 2865 | 217347569 |
| 277 | WNT10A | 2 | 0.99920255183413 | 1 | 1254 | 219745752 |
| 278 | DES | 2 | 0.99929228591649 | 1 | 1413 | 220283711 |
| 279 | OBSL1 | 2 | 0.99982428395713 | 1 | 5691 | 220435735 |
| 280 | PAX3 | 2 | 0.99934123847167 | 1 | 1518 | 223163266 |
| 281 | COL4A3 | 2 | 0.99960103730301 | 2 | 5013 | 228163465-228163466 |
| 282 | UGT1A1 | 2 | 0.99750312109863 | 4 | 1602 | 234668951-234668954 |
| 283 | C20orf54 | 20 | 0.99929078014184 | 1 | 1410 | 744368 |
| 284 | AVP | 20 | 0.94949494949495 | 25 | 495 | 3063623-3063638, 3063641-3063644, 3063650, 3063658, 3063676, 3063680-3063681 |
| 285 | FERMT1 | 20 | 0.97836774827925 | 44 | 2034 | 6093182-6093225 |
| 286 | C20orf7 | 20 | 0.94219653179191 | 60 | 1038 | 13782132-13782142, 13782190-13782238 |
| 287 | SNTA1 | 20 | 0.98155467720685 | 28 | 1518 | 32031395-32031422 |
| 288 | GDF5 | 20 | 0.99933598937583 | 1 | 1506 | 34025101 |
| 289 | SAMHD1 | 20 | 0.99149388623073 | 16 | 1881 | 35579882-35579897 |
| 290 | CTSA | 20 | 0.99799599198397 | 3 | 1497 | 44520238-44520240 |
| 291 | CD40 | 20 | 0.99760191846523 | 2 | 834 | 44756969-44756970 |
| 292 | SOX18 | 20 | 0.71948051948052 | 324 | 1155 | 62680512-62680718, 62680753-62680869 |
| 293 | IFNGR2 | 21 | 0.97140039447732 | 29 | 1014 | 34775856, 34775861-34775872, 34775875-34775880, 34775891-34775896, 34775899, 34775917-34775919 |
| 294 | CSTB | 21 | 0.95959595959596 | 12 | 297 | 45194608-45194619 |
| 295 | AIRE | 21 | 0.99328449328449 | 11 | 1638 | 45710998-45711000, 45711004-45711008, 45713011-45713012, 45713018 |
| 296 | ITGB2 | 21 | 0.995670995671 | 10 | 2310 | 46308669, 46308674-46308682 |
| 297 | COL6A1 | 21 | 0.99902818270165 | 3 | 3087 | 47410179-47410181 |
| 298 | COL6A2 | 21 | 0.99346405228758 | 20 | 3060 | 47531486-47531505 |
| 299 | FTCD | 21 | 0.99938499384994 | 1 | 1626 | 47565758 |
| 300 | PCNT | 21 | 0.9991009889122 | 9 | 10011 | 47832898-47832906 |
| 301 | PEX26 | 22 | 0.98583877995643 | 13 | 918 | 18561223-18561228, 18561231-18561237 |
| 302 | PRODH | 22 | 0.99833610648918 | 3 | 1803 | 18906998, 18910415-18910416 |
| 303 | TBX1 | 22 | 0.89045698924731 | 163 | 1488 | 19748428-19748588, 19748615, 19753971 |
| 304 | CHEK2 | 22 | 0.93072118114708 | 122 | 1761 | 29083906-29083916, 29083946-29083965, 29085137-29085175, 29091154-29091179, 29091197-29091203, 29091837-29091844, 29115445-29115449, 29115454-29115459 |
| 305 | NF2 | 22 | 0.99776286353468 | 4 | 1788 | 30074306, 30074310-30074312 |
| 306 | LARGE | 22 | 0.99955966534566 | 1 | 2271 | 33700240 |
| 307 | TRIOBP | 22 | 0.96322907861369 | 261 | 7098 | 38119798-38119804, 38119856-38119862, 38119879-38119921, 38119953-38119999, 38120041, 38120048, 38120065, 38120150-38120156, 38120173-38120215, 38120270-38120303, 38120394-38120456, 38120480-38120486 |
| 308 | EP300 | 22 | 0.99944789510007 | 4 | 7245 | 41574185-41574188 |
| 309 | TNFRSF13C | 22 | 0.94414414414414 | 31 | 555 | 42322243, 42322246, 42322251, 42322261-42322262, 42322265-42322266, 42322272-42322280, 42322319-42322333 |
| 310 | CYB5R3 | 22 | 0.97792494481236 | 20 | 906 | 43045302-43045321 |
| 311 | TYMP | 22 | 0.99309868875086 | 10 | 1449 | 50964442, 50964450-50964452, 50964460-50964464, 50964517 |
| 312 | ARSA | 22 | 0.99475065616798 | 8 | 1524 | 51063831, 51063834, 51063838-51063843 |
| 313 | SHANK3 | 22 | 0.93401983218917 | 346 | 5244 | 51113070-51113132, 51135957-51136143, 51158768-51158769, 51158774, 51158784-51158785, 51158811-51158812, 51158817-51158818, 51158829, 51158848-51158849, 51158852-51158857, 51158884-51158890, 51158930, 51158933, 51158955-51158958, 51158964, 51158969, 51158983-51158986, 51159037-51159039, 51159042, 51169181, 51169189, 51169219-51169222, 51169293-51169295, 51169298-51169301, 51169312-51169322, 51169325-51169334, 51169357, 51169501-51169502, 51169562-51169567, 51169662, 51169676-51169684, 51169712, 51169716 |
| 314 | FANCD2 | 3 | 0.99682971014493 | 14 | 4416 | 10106529-10106535, 10114941-10114947 |
| 315 | RAF1 | 3 | 0.99383667180277 | 12 | 1947 | 12660113-12660124 |
| 316 | BTD | 3 | 0.9969362745098 | 5 | 1632 | 15686590-15686594 |
| 317 | CRTAP | 3 | 0.99751243781095 | 3 | 1206 | 33155631-33155633 |
| 318 | SCN5A | 3 | 0.99847172694855 | 9 | 5889 | 38616795-38616800, 38645439-38645441 |
| 319 | RFT1 | 3 | 0.99323493234932 | 11 | 1626 | 53156422-53156432 |
| 320 | TKT | 3 | 0.9957264957265 | 8 | 1872 | 53262117-53262124 |
| 321 | HESX1 | 3 | 0.98566308243728 | 8 | 558 | 57232246-57232249, 57232258-57232261 |
| 322 | FLNB | 3 | 0.99871942630298 | 10 | 7809 | 58062877, 58062892, 58089791-58089798 |
| 323 | PDHB | 3 | 0.99907407407407 | 1 | 1080 | 58416470 |
| 324 | ATXN7 | 3 | 0.92283298097252 | 219 | 2838 | 63898283-63898315, 63898318, 63898353-63898396, 63898426-63898539, 63898559-63898585 |
| 325 | GBE1 | 3 | 0.97249881460408 | 58 | 2109 | 81630347-81630354, 81754615, 81754637-81754638, 81754672, 81754675, 81754683-81754685, 81754697-81754736, 81754741, 81754744 |
| 326 | PROS1 | 3 | 0.9945839487937 | 11 | 2031 | 93595948-93595955, 93595966-93595967, 93595986 |
| 327 | ARL13B | 3 | 0.999222999223 | 1 | 1287 | 93768296 |
| 328 | ARL6 | 3 | 0.95187165775401 | 27 | 561 | 97503807-97503812, 97503841-97503861 |
| 329 | IQCB1 | 3 | 0.99777406789093 | 4 | 1797 | 121526257-121526260 |
| 330 | CASR | 3 | 0.99413036762434 | 19 | 3237 | 122003526-122003544 |
| 331 | NPHP3 | 3 | 0.96619083395943 | 135 | 3993 | 132409392-132409397, 132432011, 132432065, 132432070, 132438549-132438674 |
| 332 | FOXL2 | 3 | 0.9973474801061 | 3 | 1131 | 138665215-138665217 |
| 333 | PLOD2 | 3 | 0.95652173913043 | 99 | 2277 | 145802975-145802976, 145802979, 145804581-145804589, 145804601-145804603, 145804611-145804669, 145804675-145804695, 145806381-145806384 |
| 334 | IFT80 | 3 | 0.99527491408935 | 11 | 2328 | 160000267, 160000291, 160000320-160000325, 160021709-160021711 |
| 335 | PDCD10 | 3 | 0.98748043818466 | 8 | 639 | 167405031-167405037, 167405040 |
| 336 | OPA1 | 3 | 0.99704724409449 | 9 | 3048 | 193354984-193354986, 193355013, 193355033, 193355046-193355048, 193361764 |
| 337 | HTT | 4 | 0.99480326651819 | 49 | 9429 | 3076612-3076646, 3076654-3076660, 3076666, 3076684-3076689 |
| 338 | DOK7 | 4 | 0.97887788778878 | 32 | 1515 | 3465151-3465156, 3465246-3465258, 3465266-3465278 |
| 339 | EVC2 | 4 | 0.99694423223835 | 12 | 3927 | 5696080-5696091 |
| 340 | EVC | 4 | 0.99932863376972 | 2 | 2979 | 5713148, 5713159 |
| 341 | WFS1 | 4 | 0.99700710811822 | 8 | 2673 | 6296832-6296839 |
| 342 | PROM1 | 4 | 0.99307159353349 | 18 | 2598 | 15981504-15981521 |
| 343 | CNGA1 | 4 | 0.94078947368421 | 135 | 2280 | 47954600-47954642, 47954685-47954696, 47972928, 47972940-47973018 |
| 344 | SLC4A4 | 4 | 0.99756468797565 | 8 | 3285 | 72352705-72352709, 72352719, 72352734-72352735 |
| 345 | PKD2 | 4 | 0.99828001375989 | 5 | 2907 | 88928943-88928945, 88929004-88929005 |
| 346 | SNCA | 4 | 0.90780141843972 | 39 | 423 | 90743474-90743479, 90749294-90749318, 90749330, 90749334-90749335, 90756702, 90756705-90756708 |
| 347 | MTTP | 4 | 0.99851024208566 | 4 | 2685 | 100529986-100529989 |
| 348 | MANBA | 4 | 0.98825757575758 | 31 | 2640 | 103611753-103611782, 103611818 |
| 349 | CISD2 | 4 | 0.94117647058824 | 24 | 408 | 103808506-103808522, 103808569-103808575 |
| 350 | CFI | 4 | 0.99942922374429 | 1 | 1752 | 110678933 |
| 351 | BBS7 | 4 | 0.93482309124767 | 140 | 2148 | 122766679, 122775859-122775975, 122782709-122782713, 122782756, 122782783, 122782820-122782834 |
| 352 | BBS12 | 4 | 0.99953117674637 | 1 | 2133 | 123663110 |
| 353 | MFSD8 | 4 | 0.99614643545279 | 6 | 1557 | 128851963-128851968 |
| 354 | LRAT | 4 | 0.98989898989899 | 7 | 693 | 155670228-155670234 |
| 355 | GLRB | 4 | 0.9665327978581 | 50 | 1494 | 158041708-158041711, 158041714-158041754, 158041774, 158041783-158041786 |
| 356 | ETFDH | 4 | 0.98759439050701 | 23 | 1854 | 159616649-159616671 |
| 357 | GK | 4 | 0.94404332129964 | 93 | 1662 | 166199162-166199168, 166199345, 166199361, 166199423-166199432, 166199563-166199569, 166200025-166200068, 166200741-166200763 |
| 358 | SDHA | 5 | 0.97694235588972 | 46 | 1995 | 228319-228325, 228378-228399, 233689-233697, 251562-251569 |
| 359 | TERT | 5 | 0.9988231832892 | 4 | 3399 | 1295069, 1295077-1295078, 1295084 |
| 360 | DNAH5 | 5 | 0.99596396396396 | 56 | 13875 | 13894861, 13894924-13894930, 13916458-13916461, 13916472, 13916484-13916522, 13916564, 13919309, 13919312, 13919315 |
| 361 | NIPBL | 5 | 0.96945929887106 | 257 | 8415 | 36962234-36962242, 37024712-37024714, 37024757-37024769, 37036481-37036589, 37048604-37048677, 37048696-37048698, 37048707-37048709, 37048716-37048717, 37048735-37048738, 37048748-37048777, 37064057-37064063 |
| 362 | LIFR | 5 | 0.96174863387978 | 126 | 3294 | 38482691, 38482701, 38482720-38482769, 38490338-38490377, 38506008, 38506013-38506015, 38506051, 38506071-38506074, 38506101-38506123, 38506138, 38528942 |
| 363 | OXCT1 | 5 | 0.978886756238 | 33 | 1563 | 41862752, 41862786-41862791, 41862827-41862852 |
| 364 | GHR | 5 | 0.99895670318206 | 2 | 1917 | 42718970-42718971 |
| 365 | ITGA2 | 5 | 0.99633389734913 | 13 | 3546 | 52347241-52347242, 52347307-52347317 |
| 366 | MOCS2 | 5 | 0.99823633156966 | 1 | 567 | 52402953 |
| 367 | MOCS2 | 5 | 0.99625468164794 | 1 | 267 | 52402953 |
| 368 | ERCC8 | 5 | 0.99328295549958 | 8 | 1191 | 60200685-60200691, 60224768 |
| 369 | NDUFAF2 | 5 | 0.94901960784314 | 26 | 510 | 60448631-60448656 |
| 370 | SMN2 | 5 | 0.9909604519774 | 8 | 885 | 69362949, 69372350-69372356 |
| 371 | SMN2 | 5 | 0.99887005649718 | 1 | 885 | 70238373 |
| 372 | HEXB | 5 | 0.99940155595452 | 1 | 1671 | 73992564 |
| 373 | AP3B1 | 5 | 0.98751902587519 | 41 | 3285 | 77311345-77311350, 77311359-77311360, 77334939, 77411967-77411972, 77411984-77411988, 77412055, 77523968, 77523971-77523973, 77563387, 77563392-77563393, 77563403-77563406, 77563411-77563419 |
| 374 | RASA1 | 5 | 0.96437659033079 | 112 | 3144 | 86633794-86633799, 86669980-86669988, 86670022-86670027, 86670032-86670037, 86670039, 86670050-86670056, 86670061-86670137 |
| 375 | MEF2C | 5 | 0.96272855133615 | 53 | 1422 | 88024355-88024379, 88024382-88024387, 88024412-88024416, 88024419-88024425, 88024428, 88024430-88024434, 88024436-88024438, 88024445 |
| 376 | GPR98 | 5 | 0.99878441942815 | 23 | 18921 | 89925071, 89933604, 89947424, 89971898, 89971914, 89971992, 90021404-90021413, 90049594, 90049617-90049618, 90052370, 90144562, 90144591, 90144599 |
| 377 | PCSK1 | 5 | 0.99955791335102 | 1 | 2262 | 95764944 |
| 378 | WDR36 | 5 | 0.97373949579832 | 75 | 2856 | 110436348, 110436363, 110436379-110436380, 110436384-110436392, 110436395-110436420, 110441756-110441778, 110448773-110448774, 110459808-110459817, 110459828 |
| 379 | APC | 5 | 0.99953117674637 | 4 | 8532 | 112111326, 112128170-112128171, 112128184 |
| 380 | HSD17B4 | 5 | 0.99231117141565 | 17 | 2211 | 118835075-118835077, 118835091-118835094, 118835097-118835098, 118835122, 118860953, 118861713-118861718 |
| 381 | HSD17B4 | 5 | 0.97872340425532 | 6 | 282 | 118861713-118861718 |
| 382 | FBN2 | 5 | 0.99736811992219 | 23 | 8739 | 127654602-127654605, 127702094-127702110, 127702122-127702123 |
| 383 | TGFBI | 5 | 0.9995126705653 | 1 | 2052 | 135364878 |
| 384 | MYOT | 5 | 0.99331997327989 | 10 | 1497 | 137221753, 137221820, 137221849-137221850, 137221864, 137221870, 137221893, 137221899-137221901 |
| 385 | MATR3 | 5 | 0.99960691823899 | 1 | 2544 | 138658538 |
| 386 | DIAPH1 | 5 | 0.99685781618225 | 12 | 3819 | 140907263-140907264, 140953564-140953573 |
| 387 | SPINK5 | 5 | 0.99969558599696 | 1 | 3285 | 147504356 |
| 388 | GRM6 | 5 | 0.99544419134396 | 12 | 2634 | 178421798-178421800, 178421803, 178421928-178421934, 178421937 |
| 389 | FOXC1 | 6 | 0.96510228640193 | 58 | 1662 | 1611799-1611825, 1612018-1612020, 1612138-1612165 |
| 390 | TUBB2B | 6 | 0.98878923766816 | 15 | 1338 | 3225569-3225583 |
| 391 | DTNBP1 | 6 | 0.99715909090909 | 3 | 1056 | 15663098-15663100 |
| 392 | ATXN1 | 6 | 0.98611111111111 | 34 | 2448 | 16327868, 16327871, 16327879-16327891, 16327893-16327894, 16327897, 16327900, 16327903, 16327906-16327909, 16327915, 16327918, 16327921-16327927, 16327941 |
| 393 | HLA-H | 6 | 0.96266666666667 | 28 | 750 | 29856330, 29856368, 29856397, 29856406, 29856516, 29856593-29856614, 29856643 |
| 394 | TNXB | 6 | 0.92431311560394 | 146 | 1929 | 31976394-31976409, 31976916, 31976926, 31977054-31977055, 31977129-31977170, 31977388-31977394, 31977528, 31977994-31978001, 31978481-31978527, 31978782-31978788, 31979502-31979508, 31980130-31980136 |
| 395 | CYP21A2 | 6 | 0.95161290322581 | 72 | 1488 | 32006337, 32007323-32007328, 32007404-32007410, 32007843-32007852, 32007884-32007890, 32007956-32007982, 32008195-32008201, 32008448-32008454 |
| 396 | TNXB | 6 | 0.98805876345353 | 152 | 12729 | 32009129-32009136, 32009648-32009664, 32009789-32009790, 32009864-32009905, 32010111-32010129, 32010283-32010289, 32010728-32010735, 32011235, 32011248, 32012356-32012362, 32012984-32012990, 32013030-32013036, 32021355-32021365, 32021399-32021405, 32035505-32035511, 32047142 |
| 397 | HLA-DQA1 | 6 | 0.91927083333333 | 62 | 768 | 32605266, 32605295, 32609806, 32609948-32609977, 32610002, 32610008-32610009, 32610387-32610406, 32610493, 32610495, 32610509, 32610534-32610535, 32610538 |
| 398 | HLA-DQB1 | 6 | 0.73791348600509 | 206 | 786 | 32629124-32629173, 32629224-32629234, 32629752-32629782, 32629796-32629797, 32629802, 32629809, 32629847, 32629859, 32629868-32629870, 32629875-32629876, 32629889, 32629955, 32632575-32632663, 32632687-32632688, 32632714, 32632741, 32632781-32632782, 32632795, 32634318, 32634331, 32634341, 32634369, 32634373 |
| 399 | COL11A2 | 6 | 0.99692957205911 | 16 | 5211 | 33138357-33138364, 33140131-33140138 |
| 400 | SYNGAP1 | 6 | 0.94270833333333 | 231 | 4032 | 33388042-33388108, 33393586, 33393600, 33393608, 33393612-33393616, 33393629, 33393639-33393646, 33393661-33393680, 33410897, 33410906, 33411502-33411512, 33411514, 33411520-33411528, 33411536-33411541, 33411546, 33411575-33411671 |
| 401 | MOCS1 | 6 | 0.99843014128728 | 3 | 1911 | 39874703-39874705 |
| 402 | CD2AP | 6 | 0.99947916666667 | 1 | 1920 | 47563662 |
| 403 | MUT | 6 | 0.96715490457168 | 74 | 2253 | 49409553-49409586, 49409601, 49409611-49409616, 49409627-49409657, 49423892, 49423920 |
| 404 | PKHD1 | 6 | 0.99910020449898 | 11 | 12225 | 51611554-51611557, 51611561-51611564, 51930824-51930826 |
| 405 | EYS | 6 | 0.98569157392687 | 135 | 9435 | 65098709, 65523336, 65523346, 65523349-65523350, 65523366-65523414, 65596590-65596613, 65596636-65596643, 65596649, 65655689-65655700, 66005841, 66005844-66005849, 66005854, 66005857, 66005864-66005880, 66005888, 66005904-66005907, 66063378-66063379, 66063388, 66094389, 66200540 |
| 406 | LMBRD1 | 6 | 0.97597042513863 | 39 | 1623 | 70410712-70410747, 70410761, 70462187-70462188 |
| 407 | COL9A1 | 6 | 0.99819233550253 | 5 | 2766 | 70972956, 70972962, 70972971-70972973 |
| 408 | RIMS1 | 6 | 0.99310887970073 | 35 | 5079 | 72974715-72974717, 72974734-72974736, 72974745, 73108657-73108670, 73108758-73108762, 73108771, 73108789-73108796 |
| 409 | LCA5 | 6 | 0.99952244508118 | 1 | 2094 | 80196722 |
| 410 | BCKDHB | 6 | 0.95928753180662 | 48 | 1179 | 80880999-80881020, 80881046, 80881059, 80881067, 80881073-80881074, 80881078-80881082, 80881092-80881107 |
| 411 | NDUFAF4 | 6 | 0.98484848484848 | 8 | 528 | 97339024, 97339075-97339076, 97339100, 97339103-97339105, 97339108 |
| 412 | SEC63 | 6 | 0.99956197985107 | 1 | 2283 | 108204298 |
| 413 | OSTM1 | 6 | 0.99203980099502 | 8 | 1005 | 108375784-108375791 |
| 414 | FIG4 | 6 | 0.9992657856094 | 2 | 2724 | 110081465-110081466 |
| 415 | WISP3 | 6 | 0.9982126899017 | 2 | 1119 | 112389527, 112389598 |
| 416 | GJA1 | 6 | 0.96257615317668 | 43 | 1149 | 121768365, 121768859-121768900 |
| 417 | LAMA2 | 6 | 0.99914557300011 | 8 | 9363 | 129486721-129486722, 129635922, 129670515-129670519 |
| 418 | ENPP1 | 6 | 0.98200143988481 | 50 | 2778 | 132203488, 132203501, 132203504-132203539, 132203542-132203545, 132203562-132203569 |
| 419 | EYA4 | 6 | 0.99739583333333 | 5 | 1920 | 133769267, 133783580-133783583 |
| 420 | AHI1 | 6 | 0.99972152603732 | 1 | 3591 | 135759539 |
| 421 | PEX7 | 6 | 0.93621399176955 | 62 | 972 | 137143854, 137143862, 137167250-137167295, 137167307-137167319, 137219362 |
| 422 | PEX3 | 6 | 0.97682709447415 | 26 | 1122 | 143792106-143792117, 143792120, 143792135, 143810337-143810348 |
| 423 | EPM2A | 6 | 0.99799196787149 | 2 | 996 | 146056604-146056605 |
| 424 | SYNE1 | 6 | 0.99776464347958 | 59 | 26394 | 152545733, 152545789-152545790, 152545793-152545798, 152722275-152722307, 152774736-152774738, 152819877, 152819884-152819888, 152819892, 152819899-152819903, 152819913-152819914 |
| 425 | PARK2 | 6 | 0.99713876967096 | 4 | 1398 | 161969969, 161969973-161969975 |
| 426 | TBP | 6 | 0.94019607843137 | 61 | 1020 | 170871014-170871015, 170871038-170871043, 170871046-170871049, 170871052, 170871055, 170871058, 170871068-170871099, 170871131-170871136, 170873706-170873713 |
| 427 | LFNG | 7 | 0.92368421052632 | 87 | 1140 | 2559516-2559560, 2559602-2559626, 2559674-2559680, 2559693-2559696, 2559757-2559759, 2559813, 2559884-2559885 |
| 428 | PMS2 | 7 | 0.96330629586713 | 95 | 2589 | 6013149-6013156, 6017320-6017343, 6042238-6042267, 6043644, 6045523-6045532, 6045552-6045572, 6045627 |
| 429 | TWIST1 | 7 | 0.7799671592775 | 134 | 609 | 19156811-19156944 |
| 430 | DNAH11 | 7 | 0.99476864132037 | 71 | 13572 | 21630539, 21630553-21630559, 21630581-21630593, 21630602, 21630638-21630640, 21630914-21630915, 21630926-21630928, 21893990-21894030 |
| 431 | KLHL7 | 7 | 0.99943214082907 | 1 | 1761 | 23212608 |
| 432 | DFNA5 | 7 | 0.99932930918846 | 1 | 1491 | 24742432 |
| 433 | HOXA13 | 7 | 0.96315338474722 | 43 | 1167 | 27239078-27239104, 27239452, 27239469, 27239503-27239509, 27239522, 27239530, 27239542-27239546 |
| 434 | BBS9 | 7 | 0.98948948948949 | 28 | 2664 | 33303902-33303919, 33303925-33303927, 33303958, 33303970, 33303981-33303985 |
| 435 | CCM2 | 7 | 0.96479400749064 | 47 | 1335 | 45039933-45039962, 45113077-45113092, 45113936 |
| 436 | SBDS | 7 | 0.9667994687915 | 25 | 753 | 66453424-66453430, 66456147-66456164 |
| 437 | NCF1 | 7 | 0.93333333333333 | 55 | 825 | 72637917, 72639957-72639989, 72640033-72640039, 72643704-72643710, 72644230-72644236 |
| 438 | ELN | 7 | 0.99862068965517 | 3 | 2175 | 73442535, 73442541-73442542 |
| 439 | NCF1 | 7 | 0.9539641943734 | 54 | 1173 | 74193642, 74193668, 74193715-74193721, 74197911-74197917, 74202930-74202936, 74203016-74203046 |
| 440 | HSPB1 | 7 | 0.98867313915858 | 7 | 618 | 75932199-75932205 |
| 441 | ABCB4 | 7 | 0.99973958333333 | 1 | 3840 | 87101982 |
| 442 | AKAP9 | 7 | 0.99343227567383 | 77 | 11724 | 91609603, 91609621-91609647, 91630249-91630268, 91671493-91671495, 91674504-91674527, 91682093, 91727501 |
| 443 | KRIT1 | 7 | 0.97693351424695 | 51 | 2211 | 91866981-91866982, 91867004-91867007, 91867024-91867068 |
| 444 | PEX1 | 7 | 0.99792315680166 | 8 | 3852 | 92131354-92131355, 92134175-92134176, 92134199, 92140305-92140306, 92140361 |
| 445 | COL1A2 | 7 | 0.98951475249939 | 43 | 4101 | 94027694-94027708, 94030879-94030888, 94030912-94030923, 94049725-94049728, 94049922-94049923 |
| 446 | SGCE | 7 | 0.99852507374631 | 2 | 1356 | 94228232, 94228235 |
| 447 | SLC25A13 | 7 | 0.99803052683407 | 4 | 2031 | 95751294-95751297 |
| 448 | SLC26A5 | 7 | 0.99865771812081 | 3 | 2235 | 103017289-103017290, 103017305 |
| 449 | CFTR | 7 | 0.94665766374072 | 237 | 4443 | 117188713-117188753, 117188760-117188800, 117188846-117188877, 117234990-117235112 |
| 450 | AASS | 7 | 0.9920891765552 | 22 | 2781 | 121738911-121738920, 121755229-121755235, 121769530-121769532, 121769538, 121769551 |
| 451 | IMPDH1 | 7 | 0.99777777777778 | 4 | 1800 | 128049860-128049863 |
| 452 | ATP6V0A4 | 7 | 0.98969480776853 | 26 | 2523 | 138394377-138394386, 138394409-138394414, 138394423-138394432 |
| 453 | BRAF | 7 | 0.99652325076054 | 8 | 2301 | 140453078-140453079, 140549985, 140624403-140624406, 140624410 |
| 454 | PRSS1 | 7 | 0.93817204301075 | 46 | 744 | 142459625-142459629, 142459676-142459682, 142460335, 142460366-142460397, 142460752 |
| 455 | CLCN1 | 7 | 0.99966295921807 | 1 | 2967 | 143047476 |
| 456 | CNTNAP2 | 7 | 0.99824824824825 | 7 | 3996 | 145813983-145813988, 145813997 |
| 457 | KCNH2 | 7 | 0.98477011494253 | 53 | 3480 | 150644694-150644698, 150644715-150644719, 150644725-150644727, 150644730, 150671881-150671886, 150671953-150671978, 150674994-150675000 |
| 458 | MNX1 | 7 | 0.88308457711443 | 141 | 1206 | 156799289-156799298, 156802644-156802646, 156802657-156802759, 156802780, 156802787, 156802893-156802909, 156802911-156802916 |
| 459 | CLN8 | 8 | 0.99767711962834 | 2 | 861 | 1728670-1728671 |
| 460 | TUSC3 | 8 | 0.97898758357211 | 22 | 1047 | 15480589-15480610 |
| 461 | ESCO2 | 8 | 0.99944629014396 | 1 | 1806 | 27650275 |
| 462 | ADAM9 | 8 | 0.99512195121951 | 12 | 2460 | 38880675-38880686 |
| 463 | RP1 | 8 | 0.99768196569309 | 15 | 6471 | 55541175-55541189 |
| 464 | CHD7 | 8 | 0.9998888147654 | 1 | 8994 | 61654447 |
| 465 | CNGB3 | 8 | 0.99958847736626 | 1 | 2430 | 87656863 |
| 466 | NBN | 8 | 0.9841059602649 | 36 | 2265 | 90958457-90958489, 90960055-90960056, 90960062 |
| 467 | TMEM67 | 8 | 0.99230254350736 | 23 | 2988 | 94768078, 94768083, 94777645-94777653, 94777657-94777659, 94777664-94777671, 94777868 |
| 468 | GDF6 | 8 | 0.99853801169591 | 2 | 1368 | 97157415-97157416 |
| 469 | VPS13B | 8 | 0.99132899783225 | 104 | 11994 | 100050780, 100123326-100123327, 100123347-100123348, 100123352, 100123398-100123402, 100123407-100123432, 100123441-100123450, 100123460-100123462, 100146860-100146862, 100146871, 100146874-100146875, 100168960-100168961, 100443863, 100513937-100513965, 100513991-100513995, 100514054-100514064 |
| 470 | DPYS | 8 | 0.99679487179487 | 5 | 1560 | 105479050-105479054 |
| 471 | TRPS1 | 8 | 0.998712998713 | 5 | 3885 | 116631959-116631963 |
| 472 | KIAA0196 | 8 | 0.99655172413793 | 12 | 3480 | 126096048-126096059 |
| 473 | TG | 8 | 0.99987961959793 | 1 | 8307 | 133882071 |
| 474 | CYP11B1 | 8 | 0.96230158730159 | 57 | 1512 | 143957128-143957132, 143958513-143958533, 143958572-143958602 |
| 475 | CYP11B2 | 8 | 0.9781746031746 | 33 | 1512 | 143993988-143993994, 143994701-143994705, 143996536-143996556 |
| 476 | PLEC | 8 | 0.997154037709 | 40 | 14055 | 144991973-144991980, 144994370-144994375, 144995065-144995066, 144996241-144996253, 144996257-144996258, 144996733-144996738, 144998968-144998970 |
| 477 | DOCK8 | 9 | 0.99492063492063 | 32 | 6300 | 405011-405026, 406998-407013 |
| 478 | KCNV2 | 9 | 0.996336996337 | 6 | 1638 | 2718340, 2718762-2718766 |
| 479 | GLIS3 | 9 | 0.97851772287863 | 60 | 2793 | 4117850-4117865, 4118029-4118072 |
| 480 | JAK2 | 9 | 0.96646072374228 | 114 | 3399 | 5069925, 5069941, 5077453-5077547, 5077562-5077572, 5090471, 5090479, 5090483-5090486 |
| 481 | GLDC | 9 | 0.99967352269017 | 1 | 3063 | 6587251 |
| 482 | TMC1 | 9 | 0.99956197985107 | 1 | 2283 | 75315438 |
| 483 | VPS13A | 9 | 0.96671916010499 | 317 | 9525 | 79824348, 79824411, 79840842-79840846, 79840857-79840858, 79842385-79842388, 79843107-79843146, 79891023, 79896783-79896842, 79897087, 79897104, 79897184-79897190, 79908415, 79908424, 79910599, 79910605, 79910684, 79928908-79928916, 79928931-79928962, 79928986-79929013, 79931204-79931210, 79932522-79932547, 79932580-79932587, 79932591-79932614, 79933168, 79934495-79934497, 79934512-79934515, 79946926-79946927, 79946961, 79947000, 79947027-79947029, 79955187-79955196, 79974312-79974317, 79996900-79996903, 79996908-79996920, 79996923, 79996933-79996937, 79996997 |
| 484 | FOXE1 | 9 | 0.99019607843137 | 11 | 1122 | 100616701-100616707, 100616716, 100616719, 100616730-100616731 |
| 485 | TGFBR1 | 9 | 0.99404761904762 | 9 | 1512 | 101867538-101867546 |
| 486 | INVS | 9 | 0.99812382739212 | 6 | 3198 | 103015365, 103015368, 103062931-103062934 |
| 487 | DFNB31 | 9 | 0.9985315712188 | 4 | 2724 | 117267000-117267003 |
| 488 | STXBP1 | 9 | 0.9939293598234 | 11 | 1812 | 130415994-130415997, 130425503-130425509 |
| 489 | SETX | 9 | 0.99975105800349 | 2 | 8034 | 135139874, 135139888 |
| 490 | CEL | 9 | 0.87318361955086 | 288 | 2271 | 135946012-135946018, 135946687-135946966, 135946988 |
| 491 | ADAMTS13 | 9 | 0.99953314659197 | 2 | 4284 | 136293768, 136293827 |
| 492 | DBH | 9 | 0.99676375404531 | 6 | 1854 | 136523488-136523489, 136523499-136523502 |
| 493 | LHX3 | 9 | 0.98593879239041 | 17 | 1209 | 139090799, 139090890-139090905 |
| 494 | INPP5E | 9 | 0.98914728682171 | 21 | 1935 | 139333318-139333323, 139333326-139333339, 139333343 |
| 495 | NOTCH1 | 9 | 0.99960876369327 | 3 | 7668 | 139391553, 139396262-139396263 |
| 496 | AGPAT2 | 9 | 0.9868578255675 | 11 | 837 | 139581752-139581754, 139581778-139581784, 139581787 |
| 497 | SLC34A3 | 9 | 0.99388888888889 | 11 | 1800 | 140128341-140128351 |
| 498 | ARX | X | 0.99703966844287 | 5 | 1689 | 25031558-25031559, 25031786, 25031789, 25031798 |
| 499 | RPGR | X | 0.945649031512 | 188 | 3459 | 38145400, 38145434-38145474, 38145509-38145588, 38145623-38145629, 38145635-38145693 |
| 500 | AR | X | 0.99022801302932 | 27 | 2763 | 66765174-66765198, 66766382-66766383 |
| 501 | MED12 | X | 0.99387817569636 | 40 | 6534 | 70361094-70361133 |
| 502 | TAF1 | X | 0.99014431538191 | 56 | 5682 | 70586165-70586214, 70586225-70586227, 70586257-70586259 |
| 503 | ATRX | X | 0.99986629228506 | 1 | 7479 | 76875865 |
| 504 | BRWD3 | X | 0.99020151599187 | 53 | 5409 | 79991508-79991511, 79991553-79991587, 80064949-80064958, 80064967-80064970 |
| 505 | SLC6A8 | X | 0.94601677148847 | 103 | 1908 | 152954100-152954173, 152954221-152954246, 152959470-152959472 |
| 506 | MECP2 | X | 0.99331997327989 | 10 | 1497 | 153363084, 153363091-153363098, 153363101 |
| 507 | OPN1MW | X | 0.9972602739726 | 3 | 1095 | 153455586, 153455590, 153455598 |
| 508 | OPN1MW | X | 0.9972602739726 | 3 | 1095 | 153492704, 153492708, 153492716 |
| 509 | USP9Y | Y | 0.99960876369327 | 3 | 7668 | 14898571-14898573 |
| Effect rank | Variant | Phase/ Zygosity | Allele freq | Impact | Evaluation | Summary / Info |
|---|---|---|---|---|---|---|
| 5 | BRCA1-S1634G | het unknown | 0.292 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 5 | BRCA1-K1183R | het unknown | 0.302 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 5 | BRCA1-E1038G | het unknown | 0.265 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.462 (possibly damaging), Testable gene in GeneTests with associated GeneReview |
| 5 | BRCA1-P871L | het unknown | 0.555 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 5 | BRCA1-D693N | het unknown | 0.031 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.004 (benign), Testable gene in GeneTests with associated GeneReview |
| 5 | BRCA1-Q356R | het unknown | 0.023 | Dominant pathogenic | Moderate clinical importance, likely | This variant was associated with an increased susceptibility to breast cancer. Johnson et al. found strongest significance for a dominant hypothesis. We estimate a woman carrying this variant to have an attributable increased lifetime risk of breast cancer of ~6% (~18% total, assuming 12% average lifetime risk). |
| 4 | SYNE2-M1969T | homozygous | 0.637 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.991 (probably damaging), Testable gene in GeneTests |
| 4 | SYNE2-A2284V | homozygous | 0.637 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: 0.289 (possibly damaging), Testable gene in GeneTests |
| 4 | SYNE2-S2359N | homozygous | 0.676 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: 0.697 (possibly damaging), Testable gene in GeneTests |
| 4 | SYNE2-A2395T | homozygous | 0.835 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: Unknown, Testable gene in GeneTests |
| 4 | SYNE2-S2802G | homozygous | 0.864 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: 0.012 (benign), Testable gene in GeneTests |
| 4 | SYNE2-I2942V | homozygous | 0.622 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: Unknown, Testable gene in GeneTests |
| 4 | SYNE2-D3253H | homozygous | 0.684 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.933 (probably damaging), Testable gene in GeneTests |
| 4 | SYNE2-H3309R | homozygous | 0.647 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: 0.001 (benign), Testable gene in GeneTests |
| 4 | SYNE2-T6211M | het unknown | 0.008 | Dominant pathogenic | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.526 (possibly damaging), Testable gene in GeneTests |
| 4 | MYO1A-G662E | het unknown | Dominant pathogenic | Moderate clinical importance, uncertain | Although one report speculated that this variant may cause dominant, early-onset sensorineural hearing loss, the findings lacked statistical significance. Notably, this gene is not a clinically tested gene and another of the eight variants reported by these authors (S797F) has since been observed in a PGP participant with no symptoms of hearing loss. | |
| 3 | CYP2C9-R144C | homozygous | 0.027 | Unknown pharmacogenetic | Moderate clinical importance, well-established | This variant, also called CYP2C9*2, is a pharmacogenetic variant that modulates sensitivity for Warfarin (due to reduced metabolism). This variant is associated with Caucasians. The FDA has approved reduced recommended Warfarin dosage based on the presence of this variant. |
| 2.5 | SP110-M579I | het unknown | 0.038 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 2.5 | SP110-M523T | homozygous | 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 | RANBP2-R412Q | het unknown | Unknown | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests | |
| 2.5 | RANBP2-T420A | het unknown | Unknown | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests | |
| 2.5 | RANBP2-E580K | het unknown | Unknown | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests | |
| 2.5 | RANBP2-C581Y | het unknown | Unknown | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests | |
| 2.5 | RANBP2-T585M | het unknown | Unknown pathogenic | Insufficiently evaluated | Prioritization score: 4 Polyphen 2: 0.732 (possibly damaging), Testable gene in GeneTests | |
| 2.5 | RANBP2-L1950V | het unknown | Unknown | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests | |
| 2.5 | RANBP2-T2391S | het unknown | Unknown | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests | |
| 2.5 | RANBP2-T2492A | het unknown | Unknown | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests | |
| 2.5 | RANBP2-P2505T | het unknown | Unknown | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests | |
| 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 | NEFL-S472Shift | homozygous | Unknown | Insufficiently evaluated | Prioritization score: 4 Frameshift, Testable gene in GeneTests with associated GeneReview | |
| 2 | APOA5-S19W | het unknown | 0.039 | Unknown pathogenic | Low clinical importance, likely | This variant, also known as APOA5*3, is associated with higher plasma triglyceride concentrations but no significant correlation with coronary artery disease itself has been found. |
| 2 | ICAM1-G241R | homozygous | 0.060 | Unknown pharmacogenetic | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: 0.948 (probably damaging) |
| 2 | ICAM1-K469E | homozygous | 0.297 | Unknown pharmacogenetic | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown |
| 2 | CHRNA5-V134I | het unknown | Unknown | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: Unknown | |
| 2 | CHRNA5-D398N | homozygous | 0.158 | Unknown pathogenic | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.003 (benign) |
| 2 | DLL3-F172C | homozygous | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 4 Polyphen 2: 0.981 (probably damaging), Testable gene in GeneTests with associated GeneReview | |
| 2 | DLL3-L218P | homozygous | 0.650 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 2 | CST3-A25T | het unknown | Unknown pathogenic | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: Unknown | |
| 1.5 | PRNP-M129V | homozygous | 0.258 | Complex/Other protective | Low clinical importance, well-established | This variant is associated with some protective effects for prion disease -- individuals homozygous for this variant are less susceptible to Creutzfeldt-Jakob, and Papua New Guinea individuals heterozygotes at this site are less susceptible to kuru. |
| 1.25 | 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 | SLC3A1-M467T | het unknown | Recessive pathogenic | Insufficiently evaluated | Prioritization score: 5 Polyphen 2: 0.977 (probably damaging), Testable gene in GeneTests | |
| 1.25 | SLC3A1-M618I | homozygous | 0.406 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: 0.003 (benign), Testable gene in GeneTests |
| 1.125 | SPG11-K1013E | het unknown | 0.008 | Recessive pathogenic | High clinical importance, uncertain | One unpublished report links this to causing spastic paraplegia in a recessive manner, but insufficient data exists to evaluate significance. Most mutations in this reported to cause the disease in this gene are more severe null mutations (frameshift or nonsense). |
| 1.125 | SPG11-F463S | het unknown | 0.470 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 1 | SLC22A1-L160F | homozygous | 0.892 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 1 | SLC22A1-P341L | het unknown | 0.082 | Unknown pharmacogenetic | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.979 (probably damaging) |
| 1 | SLC22A1-M408V | homozygous | 0.715 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 1 | ALG1-D429E | homozygous | 0.056 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.025 (benign), Testable gene in GeneTests with associated GeneReview |
| 1 | ZNF598-C725S | het unknown | 0.122 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 1 | ZNF598-M637T | het unknown | 0.601 | 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 | 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 | ZFPM1-R22G | het unknown | 0.569 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 1 | ZFPM1-K431N | het unknown | 0.096 | 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 | 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 | SPG7-T503A | het unknown | 0.095 | Unknown pharmacogenetic | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: 0.001 (benign), Testable gene in GeneTests with associated GeneReview |
| 1 | SPG7-R688Q | het unknown | 0.072 | Unknown pharmacogenetic | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: 0.203 (possibly damaging), Testable gene in GeneTests with associated GeneReview |
| 1 | NR_027242-N339D | het unknown | Unknown | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: Unknown | |
| 1 | NR_027242-C222Shift | het unknown | Unknown | Insufficiently evaluated | Prioritization score: 2 Frameshift | |
| 1 | NR_027242-Q97Shift | homozygous | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Frameshift | |
| 1 | NR_027242-L22P | homozygous | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: Unknown | |
| 1 | NPRL3-L489Shift | homozygous | 0.048 | 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 | 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 | MTHFD1-K134R | het unknown | 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 | CILP-G1166S | het unknown | 0.766 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 1 | CILP-Q979R | homozygous | 0.986 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 1 | CILP-K575E | homozygous | 0.974 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 1 | CILP-I395T | het unknown | 0.491 | Unknown pathogenic | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown |
| 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-T1660I | homozygous | 0.106 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: 0.001 (benign) |
| 1 | PCSK1-S690T | het unknown | 0.218 | Unknown pharmacogenetic | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.061 (benign), Testable gene in GeneTests |
| 1 | PCSK1-Q665E | het unknown | 0.238 | Unknown pharmacogenetic | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests |
| 1 | PCSK1-N221D | het unknown | 0.020 | Unknown pharmacogenetic | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: 0.006 (benign), Testable gene in GeneTests |
| 1 | AX746903-T82Shift | homozygous | Unknown | Insufficiently evaluated | Prioritization score: 2 Frameshift | |
| 1 | PIK3R6-L609Shift | homozygous | Unknown | Insufficiently evaluated | Prioritization score: 2 Frameshift | |
| 1 | TGIF1-P83Shift | het unknown | 0.139 | Complex/Other pathogenic | Low clinical importance, uncertain | Severe variants in this gene are associated with holoprosencephaly disorders when combined with loss-of-function variants in SHH. Haploinsufficiency was identified in some families with this condition. It is unclear how likely this variant is to occur in combination with an SHH variant, or what phenotypic effect the variant would have on its own. |
| 1 | AP1S2-T35A | homozygous | Unknown | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests | |
| 1 | AP1S2-R29P | homozygous | Unknown | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests | |
| 1 | DSG3-S771F | homozygous | 0.008 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.992 (probably damaging) |
| 1 | DSG3-T912A | homozygous | 0.993 | 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 | INSR-A2G | homozygous | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests | |
| 1 | TNFRSF11A-R7P | het unknown | Unknown | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests | |
| 1 | TNFRSF11A-H141Y | homozygous | 0.027 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: 0.909 (probably damaging), Testable gene in GeneTests |
| 1 | TNFRSF11A-A192V | het unknown | 0.625 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: Unknown, Testable gene in GeneTests |
| 1 | ADH1B-H48R | homozygous | 0.678 | Unknown pharmacogenetic | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown |
| 1 | PVRL4-P104T | homozygous | 0.048 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.999 (probably damaging) |
| 1 | F5-M1764V | het unknown | 0.273 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 1 | F5-K925E | het unknown | 0.196 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 1 | F5-H865R | het unknown | 0.238 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 1 | F5-K858R | het unknown | 0.239 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 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 | ELAC2-S217L | het unknown | 0.209 | Complex/Other pathogenic | Low clinical importance, uncertain | Reported to be associated with increased susceptibility to prostate cancer, but later studies weaken the hypothesis. Xu et al.'s meta-analysis concludes that there is a small but significant increased risk (OR = 1.13). Assuming a lifetime risk of 16% for prostate cancer we calculate this leads to an increased risk of ~1.5% (17.5% total). |
| 1 | NDUFS2-P352A | homozygous | 0.031 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: 0.999 (probably damaging), Testable gene in GeneTests |
| 1 | AKAP10-I646V | het unknown | 0.434 | Unknown pathogenic | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown |
| 1 | AKAP10-R249H | het unknown | 0.427 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 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 | RYK-L17Shift | homozygous | Unknown | Insufficiently evaluated | Prioritization score: 2 Frameshift | |
| 1 | C17orf103-C16Shift | homozygous | Unknown | Insufficiently evaluated | Prioritization score: 2 Frameshift | |
| 1 | HADHB-T2TT | homozygous | 0.008 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests |
| 1 | GCKR-L446P | homozygous | 0.673 | Unknown pharmacogenetic | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown |
| 1 | PTCHD3-*768Q | homozygous | 0.570 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 1 | PTCHD3-I584M | homozygous | 0.963 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 1 | PTCHD3-M521T | homozygous | 0.498 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 1 | PTCHD3-D473G | homozygous | 0.499 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: 0.849 (possibly damaging) |
| 1 | PTCHD3-C407G | homozygous | 0.490 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: 1.0 (probably damaging) |
| 1 | PTCHD3-S309Shift | homozygous | 0.016 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Frameshift |
| 1 | AK094914-K152N | homozygous | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: Unknown | |
| 1 | AK094914-T33Shift | homozygous | Unknown | 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 | ANXA11-R230C | homozygous | 0.382 | Unknown pharmacogenetic | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 1.0 (probably damaging) |
| 1 | HLA-DQB1-V235I | homozygous | 0.544 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 1 | HLA-DQB1-A172T | het unknown | 0.342 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 1 | HLA-DQB1-D167G | het unknown | Unknown | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview | |
| 1 | HLA-DQB1-G157A | homozygous | 0.539 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 1 | HLA-DQB1-R87P | het unknown | Unknown | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview | |
| 1 | HLA-DQB1-R87P | het unknown | Unknown | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview | |
| 1 | HLA-DQB1-Q85L | homozygous | Unknown | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview | |
| 1 | HLA-DQB1-P84L | het unknown | Unknown | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview | |
| 1 | HLA-DQB1-Y79F | het unknown | Unknown | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview | |
| 1 | HLA-DQB1-V78E | het unknown | Unknown | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview | |
| 1 | HLA-DQB1-G77E | het unknown | Unknown | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview | |
| 1 | HLA-DQB1-A70V | het unknown | 0.009 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 1 | HLA-DQB1-Y69I | het unknown | Unknown | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview | |
| 1 | HLA-DQB1-Y62S | het unknown | Unknown | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview | |
| 1 | HLA-DQB1-T60S | het unknown | 0.009 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 1 | HLA-DQB1-G45A | het unknown | 0.070 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 1 | HLA-DQB1-F41Y | homozygous | 0.789 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 1 | HLA-DQB1-LL28PV | homozygous | 0.156 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 1 | HLA-DQB1-S27T | homozygous | 0.206 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 1 | HLA-DQB1-D12G | homozygous | 0.395 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 1 | AX746750-S137Shift | homozygous | 0.010 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Frameshift |
| 1 | CYP2C8-K399R | homozygous | 0.061 | Unknown pharmacogenetic | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: 0.001 (benign) |
| 1 | CYP2C8-R139K | homozygous | 0.078 | Unknown pharmacogenetic | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: 0.015 (benign) |
| 1 | CUL7-Q813R | homozygous | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview | |
| 1 | SPTLC1-R151L | het unknown | 0.031 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 4 Polyphen 2: 0.922 (probably damaging), Testable gene in GeneTests with associated GeneReview |
| 1 | KCP-P1134S | het unknown | Unknown | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: Unknown | |
| 1 | KCP-C769S | het unknown | Unknown | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: Unknown | |
| 1 | KCP-D621V | het unknown | Unknown | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: Unknown | |
| 1 | KCP-K395E | het unknown | Unknown | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: Unknown | |
| 1 | KCP-H313Shift | homozygous | Unknown | Insufficiently evaluated | Prioritization score: 2 Frameshift | |
| 1 | KCP-A16Shift | homozygous | Unknown | Insufficiently evaluated | Prioritization score: 2 Frameshift | |
| 1 | ZNF167-N494Shift | homozygous | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Frameshift | |
| 1 | KCNH2-K897T | het unknown | 0.098 | Unknown pharmacogenetic | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: 0.001 (benign), Testable gene in GeneTests with associated GeneReview |
| 1 | ATG9B-A765Shift | homozygous | Unknown | Insufficiently evaluated | Prioritization score: 2 Frameshift | |
| 1 | ATG9B-N493S | homozygous | 0.079 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 1 | PLEKHA2-P389Shift | homozygous | 0.032 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Frameshift |
| 1 | AIM1-Q293P | homozygous | 0.181 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 1 | AIM1-E1196A | homozygous | 0.935 | Unknown pharmacogenetic | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.015 (benign) |
| 1 | AIM1-C1395Y | homozygous | 0.243 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: 0.958 (probably damaging) |
| 1 | SYNE1-T8687I | het unknown | 0.016 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.004 (benign), Testable gene in GeneTests with associated GeneReview |
| 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-F7302V | homozygous | 0.991 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 1 | SYNE1-L5015M | homozygous | 0.866 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 1 | SYNE1-S4596T | homozygous | 0.800 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 1 | SYNE1-K4121R | 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-A2795V | het unknown | 0.260 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.001 (benign), Testable gene in GeneTests with associated GeneReview |
| 1 | SYNE1-N1915Shift | het unknown | 0.008 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 4 Frameshift, Testable gene in GeneTests with associated GeneReview |
| 1 | SYNE1-V1035A | het unknown | 0.632 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.673 (possibly damaging), Testable gene in GeneTests with associated GeneReview |
| 1 | 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-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 | HABP2-T50M | homozygous | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests | |
| 1 | AX746964-G175Shift | homozygous | 0.034 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Frameshift |
| 1 | AX746964-K166I | homozygous | 0.628 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 1 | KRT4-G160GAGGFGAGFGTGGFG | homozygous | 0.008 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests |
| 1 | CYP1B1-N453S | homozygous | 0.094 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.837 (possibly damaging), Testable gene in GeneTests with associated GeneReview |
| 1 | CYP1B1-V432L | homozygous | 0.547 | Unknown pharmacogenetic | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 1 | HSPBAP1-L243V | homozygous | 0.047 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.916 (probably damaging) |
| 1 | IL13-Q144R | homozygous | 0.766 | Unknown pharmacogenetic | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown |
| 1 | SH2B3-W262R | homozygous | 0.768 | Unknown pharmacogenetic | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown |
| 1 | EDN1-K198N | het unknown | 0.235 | Unknown pathogenic | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.002 (benign) |
| 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 | HLA-DQA1-L8M | homozygous | 0.457 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 1 | 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 |
| 1 | HLA-DQA1-F41S | homozygous | 0.544 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 1 | HLA-DQA1-Q57E | het unknown | 0.203 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 1 | HLA-DQA1-E63G | het unknown | 0.233 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 1 | HLA-DQA1-A68V | homozygous | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview | |
| 1 | HLA-DQA1-RW70CL | het unknown | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview | |
| 1 | HLA-DQA1-RW70CL | het unknown | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview | |
| 1 | HLA-DQA1-EF73VL | het unknown | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview | |
| 1 | HLA-DQA1-EF73VL | het unknown | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview | |
| 1 | HLA-DQA1-S75H | het unknown | Unknown | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview | |
| 1 | HLA-DQA1-SK75RQ | het unknown | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview | |
| 1 | HLA-DQA1-KF76RL | het unknown | Unknown | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview | |
| 1 | HLA-DQA1-G78R | homozygous | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview | |
| 1 | HLA-DQA1-G79Del | homozygous | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview | |
| 1 | HLA-DQA1-G84F | homozygous | 0.122 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 1 | HLA-DQA1-R87T | homozygous | 0.170 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 1 | HLA-DQA1-M89I | homozygous | 0.200 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 1 | HLA-DQA1-A92L | het unknown | 0.151 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 1 | HLA-DQA1-M99L | het unknown | 0.066 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 1 | HLA-DQA1-M99L | het unknown | 0.066 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 1 | HLA-DQA1-Y103S | homozygous | 0.544 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 1 | HLA-DQA1-Q152H | homozygous | 0.526 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 1 | HLA-DQA1-M230V | het unknown | 0.782 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 1 | ADRB1-S49G | het unknown | 0.003 | Unknown pharmacogenetic | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: Unknown |
| 1 | ADRB1-G389R | het unknown | 0.705 | Unknown pharmacogenetic | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: Unknown |
| 1 | ACTR1B-A143V | homozygous | 0.032 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.989 (probably damaging) |
| 1 | B3GNT6-L316Shift | homozygous | Unknown | Insufficiently evaluated | Prioritization score: 2 Frameshift | |
| 1 | B3GNT6-L335Shift | homozygous | Unknown | Insufficiently evaluated | Prioritization score: 2 Frameshift | |
| 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 | CPN2-Q509W | homozygous | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests | |
| 1 | TNXB-R452W | het unknown | Unknown | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview | |
| 1 | TNXB-R48P | homozygous | Unknown | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview | |
| 1 | VDR-M1T | homozygous | 0.687 | Unknown pharmacogenetic | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: 0.999 (probably damaging), Testable gene in GeneTests |
| 1 | HSH2D-S223Shift | homozygous | 0.016 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Frameshift |
| 1 | HSH2D-P268L | het unknown | Unknown | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: Unknown | |
| 1 | ALG6-S306F | homozygous | Unknown | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview | |
| 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 | TCEAL6-Q175Shift | homozygous | 0.022 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Frameshift |
| 1 | BC112980-K147Shift | homozygous | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Frameshift | |
| 1 | C19orf55-G398Shift | homozygous | Unknown | Insufficiently evaluated | Prioritization score: 2 Frameshift | |
| 1 | FAM58A-Q15Shift | homozygous | Unknown | Insufficiently evaluated | Prioritization score: 3 Frameshift, Testable gene in GeneTests | |
| 1 | FAM58A-G4Shift | homozygous | Unknown | Insufficiently evaluated | Prioritization score: 3 Frameshift, Testable gene in GeneTests | |
| 1 | PRX-G1132R | homozygous | 0.978 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 1 | PRX-P1083R | homozygous | 0.082 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.793 (possibly damaging), Testable gene in GeneTests with associated GeneReview |
| 1 | PRX-I921M | homozygous | 0.261 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 1 | PRX-V882A | homozygous | 0.493 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.014 (benign), Testable gene in GeneTests with associated GeneReview |
| 1 | SCARF2-A832G | het unknown | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: Unknown | |
| 1 | SCARF2-A814G | het unknown | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: Unknown | |
| 1 | SCARF2-DV772EL | homozygous | Unknown | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: Unknown | |
| 1 | SCARF2-E764Shift | homozygous | Unknown | Insufficiently evaluated | Prioritization score: 2 Frameshift | |
| 1 | SCARF2-P747Shift | homozygous | Unknown | Insufficiently evaluated | Prioritization score: 2 Frameshift | |
| 1 | SCARF2-A745Shift | homozygous | Unknown | Insufficiently evaluated | Prioritization score: 2 Frameshift | |
| 1 | SCARF2-T425S | het unknown | 0.267 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 1 | ZNF480-C3Shift | homozygous | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Frameshift | |
| 1 | RPGR-D943E | homozygous | Unknown | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests | |
| 1 | KCNE1L-P33S | homozygous | 0.022 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.979 (probably damaging) |
| 1 | VSIG10L-Q860Shift | homozygous | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Frameshift | |
| 1 | DPYD-M166V | het unknown | 0.050 | Unknown pharmacogenetic | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: 0.998 (probably damaging), Testable gene in GeneTests |
| 1 | DPYD-R29C | homozygous | 0.731 | Complex/Other pharmacogenetic | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: Unknown, Testable gene in GeneTests |
| 1 | RAB40A-H45L | homozygous | 0.022 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.907 (probably damaging) |
| 1 | PGAM4-R86H | homozygous | 0.011 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.998 (probably damaging) |
| 1 | KRTAP7-1-Y17Shift | homozygous | Unknown | Insufficiently evaluated | Prioritization score: 2 Frameshift | |
| 1 | ZNF761-L47Shift | homozygous | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Frameshift | |
| 1 | ZNF761-H373R | het unknown | Unknown | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: Unknown | |
| 1 | ZNF761-N698T | het unknown | Unknown | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: Unknown | |
| 1 | AURKA-I57V | homozygous | 0.814 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 1 | AURKA-F31I | het unknown | 0.366 | Unknown pathogenic | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown |
| 1 | DGKK-L1014Shift | homozygous | Unknown | Insufficiently evaluated | Prioritization score: 2 Frameshift | |
| 1 | COL18A1-V1076I | homozygous | 0.133 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: Unknown, Testable gene in GeneTests |
| 1 | COL18A1-P1121R | homozygous | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests | |
| 1 | COL18A1-PGP1362Del | homozygous | Unknown | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests | |
| 1 | LRP8-R952Q | homozygous | 0.130 | Unknown pharmacogenetic | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown |
| 1 | PADI6-V343Shift | homozygous | 0.016 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Frameshift |
| 1 | CACNA1F-R524P | homozygous | Unknown | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview | |
| 0.75 | KCNJ11-V337I | het unknown | 0.761 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.75 | KCNJ11-K23E | het unknown | 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. |
| 0.75 | NPC1-R1266Q | het unknown | 0.144 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.001 (benign), Testable gene in GeneTests with associated GeneReview |
| 0.75 | NPC1-I858V | homozygous | 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-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 | ABCC6-R1268Q | het unknown | 0.142 | Unknown pharmacogenetic | Low clinical importance, uncertain | This common polymorphism appears to not have a significant phenotypic impact. A few studies report weak but significant associations with plasma lipids (in Inuits) and thalidomide toxicity. |
| 0.75 | ABCC6-M848V | homozygous | 0.954 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.75 | ABCC6-H632Q | het unknown | 0.342 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.75 | ABCC6-V614A | het unknown | 0.354 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.75 | ABCC6-R265G | het unknown | 0.073 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | GRHL2-K9R | het unknown | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests | |
| 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 | NCRNA00255-P39Shift | het unknown | 0.013 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Frameshift |
| 0.5 | SLC30A8-R325W | het unknown | 0.225 | Unknown pharmacogenetic | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown |
| 0.5 | CNGB3-I307V | het unknown | 0.062 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.001 (benign), Testable gene in GeneTests with associated GeneReview |
| 0.5 | CNGB3-T298P | het unknown | 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 | 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 | GGH-T151I | het unknown | 0.089 | Unknown pharmacogenetic | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: 0.846 (possibly damaging) |
| 0.5 | GGH-A31T | het unknown | 0.198 | Unknown pharmacogenetic | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: Unknown |
| 0.5 | GGH-C6R | het unknown | 0.088 | Unknown pharmacogenetic | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: Unknown |
| 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 | 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 | SLC5A1-N51S | het unknown | 0.033 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: 0.043 (benign), Testable gene in GeneTests |
| 0.5 | SLC5A1-A411T | het unknown | 0.024 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests |
| 0.5 | SLC5A1-H615Q | het unknown | 0.016 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests |
| 0.5 | NAT2-I114T | het unknown | 0.220 | Recessive pharmacogenetic | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown |
| 0.5 | NAT2-R197Q | het unknown | 0.272 | Recessive pharmacogenetic | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown |
| 0.5 | NAT2-R268K | het unknown | 0.675 | Unknown pharmacogenetic | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: Unknown |
| 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-P574L | homozygous | 0.358 | 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 | ZNF620-Q355H | het unknown | 0.043 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.996 (probably damaging) |
| 0.5 | FAM200A-R118P | het unknown | 0.008 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.988 (probably damaging) |
| 0.5 | AKAP9-M463I | het unknown | 0.376 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: Unknown, Testable gene in GeneTests |
| 0.5 | AKAP9-K1335KQ | het unknown | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests | |
| 0.5 | AKAP9-K2484R | het unknown | 0.075 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: Unknown, Testable gene in GeneTests |
| 0.5 | AKAP9-N2792S | het unknown | 0.271 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: Unknown, Testable gene in GeneTests |
| 0.5 | AKAP9-P2979S | homozygous | 0.997 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: Unknown, Testable gene in GeneTests |
| 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 | GLI3-P998L | homozygous | 0.444 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | CCM2-V120I | het unknown | 0.091 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.001 (benign), Testable gene in GeneTests with associated GeneReview |
| 0.5 | ELN-G422S | homozygous | 0.225 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | CYP3A7-R409T | homozygous | 0.669 | Unknown pharmacogenetic | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: Unknown |
| 0.5 | CYP3A43-P340A | het unknown | 0.215 | Unknown pharmacogenetic | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.925 (probably damaging) |
| 0.5 | CYP2D6-T486S | het unknown | 0.331 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 0.5 | CYP2D6-C296R | homozygous | 0.649 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 0.5 | CYP2D6-H94R | het unknown | 0.112 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 0.5 | CYP2D6-L91M | het unknown | 0.110 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 0.5 | CYP2D6-P34S | het unknown | 0.224 | Complex/Other pharmacogenetic | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown |
| 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 | MCPH1-A761V | het unknown | 0.504 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | MCPH1-P828S | homozygous | 0.241 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | EP300-I997V | homozygous | 0.176 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | NOS3-D298E | homozygous | 0.844 | Unknown pharmacogenetic | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: Unknown |
| 0.5 | PNPLA5-T218I | het unknown | 0.031 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.979 (probably damaging) |
| 0.5 | PNPLA5-T200I | het unknown | 0.047 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: 0.004 (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 | MASP2-D371Y | homozygous | 0.512 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 1 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 | NEK10-L513S | het unknown | 0.182 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 0.5 | NEK10-R365Q | het unknown | 0.008 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.952 (probably damaging) |
| 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 | FAM154A-A422V | het unknown | 0.031 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.968 (probably damaging) |
| 0.5 | FAM154A-K345R | het unknown | 0.031 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.968 (probably damaging) |
| 0.5 | FAM154A-C313W | het unknown | 0.031 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: 0.087 (benign) |
| 0.5 | FAM154A-P63S | homozygous | 0.764 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 0.5 | FAM154A-K27E | homozygous | 0.438 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: 0.387 (possibly damaging) |
| 0.5 | COL22A1-L1483H | het unknown | 0.016 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.945 (probably damaging) |
| 0.5 | COL22A1-A938D | het unknown | 0.295 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 0.5 | COL22A1-S320G | homozygous | 0.822 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: 0.001 (benign) |
| 0.5 | ARHGEF16-H370Y | homozygous | 0.663 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: 0.744 (possibly damaging) |
| 0.5 | ARHGEF16-N380D | het unknown | 0.016 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.998 (probably damaging) |
| 0.5 | CDH23-S494N | homozygous | 0.273 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | CDH23-N1349D | homozygous | 0.772 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | CDH23-A1572T | homozygous | 0.720 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | CDH23-R1801Q | homozygous | 0.172 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | CDH23-E2041K | homozygous | 0.344 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | CDH23-R2355Q | homozygous | 0.349 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | CDH23-P2377L | homozygous | 0.338 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | COL3A1-A698T | het unknown | 0.181 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | COL3A1-H1353Q | homozygous | 0.990 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | ADAMTS14-S270L | het unknown | 0.008 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.99 (probably damaging) |
| 0.5 | ADAMTS14-E351D | het unknown | Unknown | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: Unknown | |
| 0.5 | ADAMTS14-L593P | homozygous | 0.790 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 0.5 | ADAMTS14-N944S | het unknown | 0.008 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: Unknown |
| 0.5 | ADAMTS14-S1020N | het unknown | 0.227 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 0.5 | ADAMTS14-E1052G | het unknown | 0.217 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 0.5 | ADAMTS14-P1109L | het unknown | 0.023 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: Unknown |
| 0.5 | PCDH15-S19A | homozygous | 0.174 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.013 (benign), Testable gene in GeneTests with associated GeneReview |
| 0.5 | NEBL-K60N | het unknown | 0.008 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.993 (probably damaging) |
| 0.5 | OR13A1-Y269Shift | het unknown | 0.031 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Frameshift |
| 0.5 | ANUBL1-R462Q | het unknown | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.991 (probably damaging) | |
| 0.5 | ANUBL1-K118T | het unknown | 0.078 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: 0.06 (benign) |
| 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-V461M | homozygous | 0.927 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | PDE6C-S270T | homozygous | 0.419 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 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 | ARMS2-A69S | het unknown | 0.294 | Unknown pharmacogenetic | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests |
| 0.5 | MKI67-K3217E | het unknown | 0.426 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: 0.017 (benign) |
| 0.5 | MKI67-P2608L | het unknown | 0.427 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: 0.995 (probably damaging) |
| 0.5 | MKI67-N2363S | het unknown | 0.426 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 0.5 | MKI67-G1226V | het unknown | 0.056 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: 0.998 (probably damaging) |
| 0.5 | MKI67-K1144E | het unknown | 0.056 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: 0.129 (benign) |
| 0.5 | MKI67-A872V | het unknown | 0.043 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: Unknown |
| 0.5 | MKI67-R832W | het unknown | 0.031 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 1.0 (probably damaging) |
| 0.5 | MKI67-N104S | het unknown | 0.618 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: 0.417 (possibly 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 | homozygous | 0.910 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.001 (benign), Testable gene in GeneTests with associated GeneReview |
| 0.5 | TMPRSS3-V53I | het unknown | 0.113 | Unknown pharmacogenetic | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.36 (possibly damaging), Testable gene in GeneTests |
| 0.5 | PINK1-N521T | homozygous | 0.289 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 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-G935R | het unknown | 0.070 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.036 (benign), Testable gene in GeneTests with associated GeneReview |
| 0.5 | ABCC2-Y39F | homozygous | 0.990 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: Unknown, Testable gene in GeneTests |
| 0.5 | ABCC2-V417I | het unknown | 0.195 | Unknown pharmacogenetic | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.001 (benign), Testable gene in GeneTests |
| 0.5 | AIRE-S278R | het unknown | 0.241 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: Unknown, Testable gene in GeneTests |
| 0.5 | AIRE-A373V | het unknown | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests | |
| 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 | COL17A1-T210M | het unknown | 0.557 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | ECHDC3-R20C | het unknown | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.961 (probably damaging) | |
| 0.5 | ECHDC3-A69T | homozygous | 0.836 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 0.5 | ECHDC3-A151T | homozygous | 0.873 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 0.5 | NOTCH1-A2037S | het unknown | Unknown | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests | |
| 0.5 | NOTCH1-R1279H | het unknown | 0.008 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests |
| 0.5 | IFNA17-H57Shift | het unknown | 0.023 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Frameshift |
| 0.5 | S1PR3-R243Q | het unknown | 0.035 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 1.0 (probably damaging) |
| 0.5 | ROR2-V819I | het unknown | 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 | NR_024390-W43* | het unknown | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Nonsense mutation | |
| 0.5 | NR_024390-A104P | het unknown | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: Unknown | |
| 0.5 | CTLA4-T17A | homozygous | 0.463 | Unknown pharmacogenetic | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: 0.001 (benign) |
| 0.5 | PLEC-T4539M | het unknown | Unknown | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview | |
| 0.5 | PLEC-G3490A | het unknown | Unknown | 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-E2458EVQE | het unknown | Unknown | Insufficiently evaluated | Prioritization score: 3 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-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 | CPS1-T344A | homozygous | 0.583 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.302 (possibly damaging), Testable gene in GeneTests with associated GeneReview |
| 0.5 | RECQL4-R1005Q | het unknown | 0.258 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | RECQL4-R766Shift | homozygous | 0.278 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 3 Frameshift, Testable gene in GeneTests with associated GeneReview |
| 0.5 | RECQL4-E267D | het unknown | 0.471 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | RECQL4-S92P | homozygous | 1.000 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | DOCK8-A22V | homozygous | 0.291 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: 0.009 (benign), Testable gene in GeneTests |
| 0.5 | DOCK8-P97T | homozygous | 0.512 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.961 (probably damaging), Testable gene in GeneTests |
| 0.5 | DOCK8-A597V | het unknown | 0.034 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: 0.96 (probably damaging), Testable gene in GeneTests |
| 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 | het unknown | 0.780 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | HPS4-L438V | het unknown | 0.344 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | HPS4-E224G | het unknown | 0.779 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | COL15A1-G504V | het unknown | 0.110 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: 0.969 (probably damaging) |
| 0.5 | COL15A1-P705L | het unknown | 0.016 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.997 (probably damaging) |
| 0.5 | ALS2CR11-C1039G | homozygous | 1.000 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 0.5 | ALS2CR11-P460S | het unknown | 0.008 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.97 (probably damaging) |
| 0.5 | ALS2CR11-H376Q | homozygous | 0.478 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 0.5 | NR_027052-R29H | het unknown | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: Unknown | |
| 0.5 | NR_027052-T53Shift | het unknown | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Frameshift | |
| 0.5 | NR_027052-Y63N | het unknown | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: Unknown | |
| 0.5 | NR_027052-Q90* | het unknown | Unknown | Insufficiently evaluated | Prioritization score: 2 Nonsense mutation | |
| 0.5 | SNAPC4-H799Q | het unknown | 0.378 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 0.5 | SNAPC4-R729Q | het unknown | 0.017 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.999 (probably damaging) |
| 0.5 | SETX-I2587V | homozygous | 0.591 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | SETX-T1855A | homozygous | 0.508 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | SETX-D1192E | het unknown | 0.598 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | SETX-F1152C | het unknown | 0.109 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | SETX-A660G | het unknown | 0.242 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | POMT1-D411E | het unknown | 0.025 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests |
| 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 | DFNB31-N796K | het unknown | 0.197 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | DFNB31-V783A | het unknown | 0.405 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | DFNB31-H752Q | homozygous | 0.983 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | DFNB31-M613T | het unknown | 0.487 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | DFNB31-P562A | het unknown | 0.036 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | DFNB31-A440T | het unknown | 0.197 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | DFNB31-R364H | homozygous | 0.968 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | PIWIL3-V418M | homozygous | 0.922 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 0.5 | PIWIL3-C412R | het unknown | 0.657 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 0.5 | PIWIL3-P375S | het unknown | 0.022 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.856 (probably damaging) |
| 0.5 | CDK5RAP2-V1540L | het unknown | 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 | 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 | TXNDC3-C208R | homozygous | 0.740 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | GPR98-L1093F | het unknown | 0.835 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | GPR98-V1951I | het unknown | 0.820 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | GPR98-N1985D | het unknown | 0.259 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.005 (benign), Testable gene in GeneTests with associated GeneReview |
| 0.5 | GPR98-L2004F | het unknown | 0.341 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.841 (possibly damaging), Testable gene in GeneTests with associated GeneReview |
| 0.5 | GPR98-N2584S | het unknown | 0.825 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | GPR98-S2764L | het unknown | 0.081 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.002 (benign), Testable gene in GeneTests with associated GeneReview |
| 0.5 | GPR98-G3248D | het unknown | 0.232 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: 0.961 (probably damaging), Testable gene in GeneTests with associated GeneReview |
| 0.5 | GPR98-E3471K | het unknown | 0.834 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | GPR98-M3526T | het unknown | 0.017 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | GPR98-E5344G | homozygous | 0.903 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.003 (benign), Testable gene in GeneTests with associated GeneReview |
| 0.5 | GPR98-V5427M | homozygous | 0.918 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | GPR98-V5876I | het unknown | 0.424 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: 0.94 (probably damaging), Testable gene in GeneTests with associated GeneReview |
| 0.5 | F9-T194A | homozygous | 0.144 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.006 (benign), Testable gene in GeneTests with associated GeneReview |
| 0.5 | WDR36-A163V | het unknown | 0.009 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.504 (possibly damaging), Testable gene in GeneTests |
| 0.5 | WDR36-I264V | homozygous | 0.223 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: Unknown, Testable gene in GeneTests |
| 0.5 | NR_004845-E208Shift | het unknown | Unknown | Insufficiently evaluated | Prioritization score: 2 Frameshift | |
| 0.5 | NR_004845-Y206S | het unknown | 0.016 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: Unknown |
| 0.5 | NR_004845-E205Shift | het unknown | Unknown | Insufficiently evaluated | Prioritization score: 2 Frameshift | |
| 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 | SLC41A3-L501Shift | het unknown | 0.008 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Frameshift |
| 0.5 | SLC41A3-T62A | homozygous | 0.982 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 0.5 | CARD6-L30Shift | het unknown | 0.016 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Frameshift |
| 0.5 | GHR-I544L | homozygous | 0.473 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.98 (probably damaging), Testable gene in GeneTests |
| 0.5 | NR_027706-G109R | het unknown | Unknown | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: Unknown | |
| 0.5 | NR_027706-G126Shift | het unknown | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Frameshift | |
| 0.5 | APC-V1822D | homozygous | 0.887 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | SLC26A2-I574T | homozygous | 0.994 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | TCOF1-A1353V | homozygous | 0.194 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 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-I834Shift | het unknown | 0.041 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Frameshift |
| 0.5 | ADRB2-E27Q | het unknown | 0.773 | Unknown pharmacogenetic | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.001 (benign), Testable gene in GeneTests |
| 0.5 | ATP7A-E1350K | homozygous | 1.000 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | DMXL1-M1589V | het unknown | 0.024 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.984 (probably damaging) |
| 0.5 | UMPS-G213A | het unknown | 0.170 | Unknown pharmacogenetic | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests |
| 0.5 | FSTL4-E353D | het unknown | 0.008 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.993 (probably damaging) |
| 0.5 | WDR55-C151R | homozygous | 0.874 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: 0.002 (benign) |
| 0.5 | WDR55-Y235C | het unknown | 0.031 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.986 (probably damaging) |
| 0.5 | IL7R-I66T | homozygous | 0.597 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: Unknown, Testable gene in GeneTests |
| 0.5 | IL7R-V138I | homozygous | 0.689 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: Unknown, Testable gene in GeneTests |
| 0.5 | IL7R-N348T | het unknown | Unknown | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests | |
| 0.5 | IL7R-I356V | het unknown | 0.214 | Unknown pharmacogenetic | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests |
| 0.5 | FAM105A-F319L | het unknown | 0.028 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.916 (probably damaging) |
| 0.5 | RPL22L1-V97F | het unknown | 0.008 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.993 (probably damaging) |
| 0.5 | EPHA5-N81T | het unknown | 0.039 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.978 (probably damaging) |
| 0.5 | UGT2B15-K523T | homozygous | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: Unknown | |
| 0.5 | UGT2B15-Y85D | homozygous | 0.500 | Unknown pharmacogenetic | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: Unknown |
| 0.5 | BST1-R125H | het unknown | 0.049 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 1.0 (probably damaging) |
| 0.5 | WFS1-V333I | homozygous | 0.889 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | WFS1-R611H | het unknown | 0.442 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: 0.99 (probably damaging), Testable gene in GeneTests with associated GeneReview |
| 0.5 | IDUA-H33Q | homozygous | 0.750 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.008 (benign), Testable gene in GeneTests with associated GeneReview |
| 0.5 | HTT-I1091M | het unknown | 0.029 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.008 (benign), Testable gene in GeneTests with associated GeneReview |
| 0.5 | HTT-E2643Del | het unknown | 0.023 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | RGS12-M277L | het unknown | 0.044 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: 0.073 (benign) |
| 0.5 | RGS12-R633Q | het unknown | 0.038 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.913 (probably damaging) |
| 0.5 | EVC-Y258H | homozygous | 0.721 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.985 (probably damaging), Testable gene in GeneTests |
| 0.5 | EVC-T449K | homozygous | 0.871 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: Unknown, Testable gene in GeneTests |
| 0.5 | EVC-R576Q | het unknown | 0.274 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.998 (probably damaging), Testable gene in GeneTests |
| 0.5 | BMP2K-A58D | het unknown | 0.025 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.998 (probably damaging) |
| 0.5 | BMP2K-T1002S | het unknown | 0.112 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: 0.022 (benign) |
| 0.5 | SPRY3-E179A | het unknown | 0.012 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.994 (probably damaging) |
| 0.5 | ANXA10-R47C | het unknown | 0.016 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.998 (probably damaging) |
| 0.5 | ANXA10-M71L | het unknown | 0.526 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 0.5 | MTRR-S202L | homozygous | 0.285 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | MTRR-P545S | het unknown | Unknown | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview | |
| 0.5 | DNAH5-I4450V | homozygous | 0.481 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | DNAH5-A4134V | het unknown | 0.450 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | DNAH5-T3791I | het unknown | 0.053 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: 0.995 (probably damaging), Testable gene in GeneTests with associated GeneReview |
| 0.5 | DNAH5-Q2463R | het unknown | 0.263 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: 0.99 (probably damaging), Testable gene in GeneTests with associated GeneReview |
| 0.5 | DNAH5-I766L | het unknown | 0.404 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.026 (benign), Testable gene in GeneTests with associated GeneReview |
| 0.5 | DNAH5-T558A | het unknown | 0.395 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.791 (possibly damaging), Testable gene in GeneTests with associated GeneReview |
| 0.5 | DNAH5-G24E | het unknown | 0.496 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | DNAH5-H12Q | homozygous | 0.896 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | 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 | TOPBP1-K457Q | het unknown | 0.709 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 0.5 | TOPBP1-R309C | het unknown | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.928 (probably damaging) | |
| 0.5 | MTTP-I128T | het unknown | 0.250 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: Unknown, Testable gene in GeneTests |
| 0.5 | MTTP-H297Q | het unknown | 0.636 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: Unknown, Testable gene in GeneTests |
| 0.5 | MTTP-G661S | het unknown | 0.023 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests |
| 0.5 | OPN1LW-S180A | homozygous | 0.229 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.001 (benign), Testable gene in GeneTests with associated GeneReview |
| 0.5 | TET2-P29R | het unknown | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.999 (probably damaging) | |
| 0.5 | TET2-L34F | het unknown | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.937 (probably damaging) | |
| 0.5 | TET2-V218M | het unknown | 0.168 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 0.5 | TET2-H1778R | het unknown | 0.078 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: 0.992 (probably damaging) |
| 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 | 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 | MSX2-M129T | homozygous | 0.716 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | ITIH3-Q315K | het unknown | 0.569 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 0.5 | ITIH3-T340M | het unknown | 0.022 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.994 (probably damaging) |
| 0.5 | QARS-N285S | het unknown | 0.016 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.999 (probably damaging) |
| 0.5 | GPRC6A-S924L | het unknown | 0.008 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.992 (probably damaging) |
| 0.5 | GPRC6A-Y775LP | het unknown | Unknown | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: Unknown | |
| 0.5 | GPRC6A-G773GR | het unknown | Unknown | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: Unknown | |
| 0.5 | GPRC6A-P91S | homozygous | 0.689 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: 0.002 (benign) |
| 0.5 | GPRC6A-R57* | het unknown | 0.060 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 1 Nonsense mutation |
| 0.5 | DMD-R1745H | homozygous | 0.387 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: 0.999 (probably damaging), Testable gene in GeneTests with associated GeneReview |
| 0.5 | DMD-D882G | homozygous | 0.727 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | MDN1-I4720T | het unknown | 0.035 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: 0.017 (benign) |
| 0.5 | MDN1-R4266G | het unknown | 0.031 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.998 (probably damaging) |
| 0.5 | MDN1-A4044S | het unknown | 0.656 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: 0.035 (benign) |
| 0.5 | MDN1-H3423Y | het unknown | 0.648 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: 0.986 (probably damaging) |
| 0.5 | MDN1-S1559N | homozygous | 0.846 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 0.5 | MDN1-I660V | het unknown | 0.178 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: 0.057 (benign) |
| 0.5 | MDN1-F440V | het unknown | 0.154 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: 0.045 (benign) |
| 0.5 | PKHD1-Q4048R | homozygous | 0.566 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | PKHD1-Q3899R | homozygous | 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-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 | IL17F-E126G | het unknown | 0.031 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.998 (probably damaging) |
| 0.5 | COL9A1-Q621R | het unknown | 0.335 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | COL9A1-S339P | homozygous | 0.507 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | COL7A1-P595L | het unknown | 0.076 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | CCR5-S185Shift | het unknown | 0.048 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Frameshift |
| 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 | het unknown | 0.747 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | DNAH11-N2641S | homozygous | 0.367 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | DNAH11-A3474T | het unknown | 0.501 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | DNAH11-M4172V | het unknown | 0.334 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | DNAH11-K4508R | het unknown | 0.039 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | GARS-P42A | homozygous | 0.654 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | HHATL-M403V | homozygous | 0.626 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 0.5 | HHATL-P324T | het unknown | 0.008 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.978 (probably damaging) |
| 0.5 | PMS2-T597S | het unknown | Unknown | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview | |
| 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-P470S | het unknown | Unknown benign | Low clinical importance, likely | Benign, common variant. | |
| 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 | BCLAF1-S209C | het unknown | 0.004 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.96 (probably damaging) |
| 0.5 | BCLAF1-R159* | het unknown | Unknown | Insufficiently evaluated | Prioritization score: 2 Nonsense mutation | |
| 0.5 | BCLAF1-G66A | het unknown | 0.500 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 0.5 | KNDC1-E436G | het unknown | 0.378 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 0.5 | KNDC1-L717P | het unknown | 0.549 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 0.5 | KNDC1-V806D | het unknown | 0.360 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: 0.007 (benign) |
| 0.5 | KNDC1-P867L | het unknown | 0.016 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.913 (probably damaging) |
| 0.5 | SHANK3-I245T | homozygous | 0.357 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | SLC22A2-S270A | homozygous | 0.876 | Unknown pharmacogenetic | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: Unknown |
| 0.5 | MUT-I671V | homozygous | 0.522 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | MUT-R532H | homozygous | 0.238 | 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 | OR2W1-M81V | het unknown | 0.039 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.991 (probably damaging) |
| 0.5 | HLA-H-D29A | het unknown | 0.071 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | HLA-H-P32Q | het unknown | 0.060 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | HLA-H-E34M | het unknown | Unknown | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview | |
| 0.5 | HLA-H-Q61R | het unknown | 0.288 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | HLA-H-V92L | het unknown | 0.135 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | HLA-H-L145R | het unknown | 0.293 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | HLA-H-A147V | het unknown | 0.278 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | HLA-H-S182W | het unknown | 0.392 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | HLA-H-S182W | het unknown | 0.392 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | HLA-H-C238S | homozygous | 0.729 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | HLA-L-H17R | het unknown | Unknown | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: Unknown | |
| 0.5 | HLA-L-I30V | het unknown | Unknown | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: Unknown | |
| 0.5 | HLA-L-R38Shift | het unknown | Unknown | Insufficiently evaluated | Prioritization score: 2 Frameshift | |
| 0.5 | HLA-L-A142V | het unknown | Unknown | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: Unknown | |
| 0.5 | HLA-L-W144* | het unknown | Unknown | Insufficiently evaluated | Prioritization score: 2 Nonsense mutation | |
| 0.5 | HLA-L-C172Y | het unknown | Unknown | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: Unknown | |
| 0.5 | DSP-I2093M | het unknown | Unknown | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview | |
| 0.5 | DSP-I2263V | het unknown | Unknown | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview | |
| 0.5 | TRIM7-G363S | het unknown | 0.181 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 0.5 | TRIM7-V258A | het unknown | 0.487 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 0.5 | TRIM7-Q95E | het unknown | 0.029 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.923 (probably damaging) |
| 0.5 | FGFR4-P136L | homozygous | 0.768 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 0.5 | FGFR4-G388R | het unknown | 0.301 | Unknown pharmacogenetic | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.481 (possibly 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 | BC040901-C89W | het unknown | 0.706 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 0.5 | BC040901-P93S | het unknown | 0.548 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 0.5 | BC040901-A106Shift | het unknown | 0.016 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Frameshift |
| 0.5 | FLT4-H890Q | homozygous | 0.355 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.714 (possibly damaging), Testable gene in GeneTests with associated GeneReview |
| 0.5 | MDC1-D1855E | het unknown | 0.008 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: 0.014 (benign) |
| 0.5 | MDC1-V1791E | het unknown | 0.008 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: 0.034 (benign) |
| 0.5 | MDC1-P1745R | het unknown | 0.008 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.987 (probably damaging) |
| 0.5 | MDC1-R1299Q | het unknown | 0.008 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: Unknown |
| 0.5 | MDC1-P1283T | het unknown | 0.031 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: 0.766 (possibly damaging) |
| 0.5 | MDC1-Y1266S | het unknown | 0.070 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 0.5 | MDC1-P1259S | het unknown | 0.008 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: 0.019 (benign) |
| 0.5 | MDC1-S1112F | het unknown | 0.008 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.995 (probably damaging) |
| 0.5 | MDC1-P1100A | het unknown | 0.008 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.854 (probably damaging) |
| 0.5 | MDC1-R179C | het unknown | 0.025 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: Unknown |
| 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-Q291P | 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-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-L171W | homozygous | 0.605 | 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-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 | TULP1-K261N | homozygous | 0.805 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | TULP1-I259T | het unknown | 0.344 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | TULP1-T67R | homozygous | 0.877 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | MOCS1-R439Q | het unknown | 0.017 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests |
| 0.5 | NR_015394-G45W | het unknown | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: Unknown | |
| 0.5 | NR_015394-F74S | het unknown | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: Unknown | |
| 0.5 | NR_015394-T113Shift | het unknown | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Frameshift | |
| 0.5 | GPSM3-H47D | het unknown | 0.008 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.981 (probably damaging) |
| 0.5 | AGER-R77C | het unknown | 0.008 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.99 (probably damaging) |
| 0.5 | MICA-W37G | het unknown | 0.203 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 0.5 | MICA-Y59C | het unknown | 0.293 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 0.5 | MICA-L145V | het unknown | 0.191 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 0.5 | MICA-V152M | het unknown | 0.314 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 0.5 | MICA-M174V | het unknown | 0.031 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: Unknown |
| 0.5 | MICA-E196K | het unknown | 0.363 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 0.5 | MICA-G198S | het unknown | 0.337 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 0.5 | MICA-S229G | het unknown | 0.320 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 0.5 | MICA-R233W | het unknown | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: Unknown | |
| 0.5 | MICA-I236T | homozygous | 0.570 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 0.5 | MICA-T238S | het unknown | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: Unknown | |
| 0.5 | MICA-R274Q | homozygous | 0.538 | Unknown pharmacogenetic | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: Unknown |
| 0.5 | MICA-P294A | het unknown | Unknown | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: Unknown | |
| 0.5 | MICA-P330L | het unknown | 0.262 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 0.5 | HSPA1L-T493M | homozygous | 0.868 | Unknown pharmacogenetic | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: 0.001 (benign) |
| 0.5 | CFB-V488A | het unknown | Unknown | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview | |
| 0.5 | CFB-E1068A | het unknown | Unknown | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview | |
| 0.5 | TNXB-V3186I | het unknown | 0.062 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | TNXB-R2597Q | het unknown | 0.157 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 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-G2495S | het unknown | 0.153 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | TNXB-V2127M | het unknown | 0.141 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | TNXB-R1255H | het unknown | 0.106 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | TNXB-H1161R | homozygous | 0.568 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | TNXB-S921A | het unknown | 0.173 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | TNXB-R724C | het unknown | Unknown | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview | |
| 0.5 | TNXB-R650H | het unknown | 0.078 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | TNXB-R511H | het unknown | 0.181 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | TNXB-V203M | het unknown | 0.078 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 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 | MAP1A-S1858C | het unknown | 0.008 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.991 (probably damaging) |
| 0.5 | RLTPR-V181M | het unknown | 0.008 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: 0.813 (possibly damaging) |
| 0.5 | RLTPR-D857V | het unknown | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.995 (probably damaging) | |
| 0.5 | SLC7A6OS-Y220C | het unknown | 0.045 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.986 (probably damaging) |
| 0.5 | SLC7A6OS-G45D | het unknown | 0.709 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 0.5 | DHODH-K7Q | homozygous | 0.560 | Unknown pharmacogenetic | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: 0.004 (benign) |
| 0.5 | GPR56-S281R | het unknown | 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 | 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 | 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 | 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 | CD2BP2-T88S | het unknown | 0.008 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.995 (probably damaging) |
| 0.5 | HP-D70N | het unknown | 0.008 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests |
| 0.5 | HP-K71E | het unknown | 0.008 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: 0.001 (benign), Testable gene in GeneTests |
| 0.5 | ZFHX3-S3177L | het unknown | Unknown | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: Unknown | |
| 0.5 | ZFHX3-Q2014H | het unknown | 0.016 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.889 (probably damaging) |
| 0.5 | ZFHX3-V777A | homozygous | 0.810 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 0.5 | ZFHX3-S72A | homozygous | 0.516 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 0.5 | MYOC-R76K | het unknown | 0.094 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.985 (probably damaging), Testable gene in GeneTests |
| 0.5 | FUT2-W154* | het unknown | 0.364 | Unknown pharmacogenetic | Insufficiently evaluated | Prioritization score: 2 Nonsense mutation |
| 0.5 | FUT2-G258S | het unknown | 0.390 | Unknown pharmacogenetic | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: 0.954 (probably damaging) |
| 0.5 | MFSD6L-L436Shift | het unknown | Unknown | Insufficiently evaluated | Prioritization score: 2 Frameshift | |
| 0.5 | MFSD6L-L85I | het unknown | 0.041 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.914 (probably damaging) |
| 0.5 | MED25-Q671P | het unknown | 0.029 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.508 (possibly damaging), Testable gene in GeneTests |
| 0.5 | 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 | 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 | LRRC50-K393R | homozygous | 0.321 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.683 (possibly damaging), Testable gene in GeneTests with associated GeneReview |
| 0.5 | LRRC50-P502L | homozygous | 0.272 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.005 (benign), Testable gene in GeneTests with associated GeneReview |
| 0.5 | LRRC50-L633S | homozygous | 0.261 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | LRRC50-L659P | homozygous | 0.352 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | LRRC50-S675T | homozygous | 0.363 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.001 (benign), Testable gene in GeneTests with associated GeneReview |
| 0.5 | KLK13-H109Y | het unknown | 0.039 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.953 (probably damaging) |
| 0.5 | ACPT-P95L | het unknown | 0.031 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.994 (probably damaging) |
| 0.5 | PKD1-I4045V | het unknown | 0.250 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | PKD1-A3534V | het unknown | Unknown | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview | |
| 0.5 | PKD1-H2638R | het unknown | Unknown | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview | |
| 0.5 | PKD1-V1339M | het unknown | Unknown | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview | |
| 0.5 | FPR1-E346A | homozygous | 0.800 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 0.5 | FPR1-N192K | homozygous | 0.516 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 0.5 | FPR1-V101L | het unknown | 0.336 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 0.5 | FPR1-I11T | homozygous | 0.831 | Unknown pharmacogenetic | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: Unknown |
| 0.5 | USH2A-V4433L | het unknown | 0.008 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | USH2A-P3893T | het unknown | Unknown | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview | |
| 0.5 | USH2A-I2169T | het unknown | 0.575 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | USH2A-I1665T | het unknown | 0.052 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.3 (possibly damaging), Testable gene in GeneTests with associated GeneReview |
| 0.5 | USH2A-A125T | het unknown | 0.777 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | PTPRH-K823E | homozygous | 0.998 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 0.5 | PTPRH-L543F | het unknown | 0.113 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: 0.002 (benign) |
| 0.5 | PTPRH-H348Y | homozygous | 0.576 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: 0.995 (probably damaging) |
| 0.5 | PTPRH-D232N | het unknown | 0.023 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.972 (probably damaging) |
| 0.5 | CLN6-A12T | het unknown | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview | |
| 0.5 | USP8-L268I | het unknown | 0.016 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.871 (probably damaging) |
| 0.5 | USP8-T739A | het unknown | 0.051 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 0.5 | FBN1-C472Y | homozygous | 1.000 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | 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 | LEPR-K109R | het unknown | 0.332 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: 0.026 (benign), Testable gene in GeneTests |
| 0.5 | LEPR-Q223R | het unknown | 0.569 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: 0.484 (possibly damaging), Testable gene in GeneTests |
| 0.5 | LEPR-K656N | het unknown | 0.098 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: 0.454 (possibly damaging), Testable gene in GeneTests |
| 0.5 | RAB3GAP2-S1092T | het unknown | 0.043 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.924 (probably damaging) |
| 0.5 | GPATCH2-M474V | het unknown | 0.008 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.999 (probably damaging) |
| 0.5 | KIF23-T51I | het unknown | 0.031 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.898 (probably damaging) |
| 0.5 | NR2E3-T318Shift | homozygous | 1.000 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Frameshift, Testable gene in GeneTests |
| 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-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 | MRPL28-H27Y | het unknown | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.999 (probably damaging) | |
| 0.5 | WDR90-R1600W | het unknown | 0.016 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 1.0 (probably damaging) |
| 0.5 | HAPLN3-G106R | het unknown | 0.008 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.999 (probably damaging) |
| 0.5 | HAPLN3-N94Shift | het unknown | Unknown | Insufficiently evaluated | Prioritization score: 2 Frameshift | |
| 0.5 | NLRP2-T221M | het unknown | 0.048 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.998 (probably damaging) |
| 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 | 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 | HCN4-AG250ER | het unknown | Unknown | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests | |
| 0.5 | HCN4-G36E | het unknown | Unknown | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests | |
| 0.5 | LOXL1-G153D | het unknown | 0.269 | Unknown pharmacogenetic | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.135 (benign) |
| 0.5 | SIX5-V693M | homozygous | 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-L556V | homozygous | 0.833 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | ZNF18-F476L | het unknown | 0.016 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.991 (probably damaging) |
| 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 | AKAP8-R206H | het unknown | 0.008 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.999 (probably damaging) |
| 0.5 | DSG2-R773K | homozygous | 0.221 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.003 (benign), Testable gene in GeneTests with associated GeneReview |
| 0.5 | RAB40B-P263R | het unknown | 0.008 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.998 (probably damaging) |
| 0.5 | SEC22B-D70Y | het unknown | 0.003 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: Unknown |
| 0.5 | SEC22B-T81K | het unknown | 0.500 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 0.5 | SEC22B-R107Q | het unknown | 0.002 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: Unknown |
| 0.5 | SEC22B-C129R | het unknown | 0.085 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 0.5 | SEC22B-R131* | het unknown | 0.019 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Nonsense mutation |
| 0.5 | SEC22B-H189R | het unknown | 0.508 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 0.5 | FLG-Y3105D | het unknown | 0.825 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.002 (benign), Testable gene in GeneTests with associated GeneReview |
| 0.5 | FLG-E2976D | het unknown | 0.406 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | FLG-H2507Q | het unknown | 0.318 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.002 (benign), Testable gene in GeneTests with associated GeneReview |
| 0.5 | FLG-H2505R | het unknown | Unknown | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview | |
| 0.5 | FLG-E665K | het unknown | Unknown | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview | |
| 0.5 | RPTN-E707G | het unknown | 0.141 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: 0.426 (possibly damaging) |
| 0.5 | RPTN-T466P | het unknown | Unknown | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: Unknown | |
| 0.5 | RPTN-K163R | het unknown | 0.108 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: 0.001 (benign) |
| 0.5 | RPTN-S161P | het unknown | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: 0.743 (possibly damaging) | |
| 0.5 | RPTN-R154G | het unknown | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.992 (probably damaging) | |
| 0.5 | GAA-H199R | homozygous | 0.574 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | GAA-R223H | homozygous | 0.606 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | GAA-V780I | homozygous | 0.720 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | ASXL3-L2067R | het unknown | 0.017 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.889 (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-R918H | het unknown | 0.118 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 1 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 | ZFR2-R521C | het unknown | 0.008 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.997 (probably damaging) |
| 0.5 | FUT3-I356K | het unknown | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.894 (probably damaging) | |
| 0.5 | FUT3-M105T | homozygous | 0.904 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 0.5 | FUT3-R68W | homozygous | 0.900 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 0.5 | FUT3-L20R | het unknown | 0.169 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: 0.952 (probably damaging) |
| 0.5 | TSPAN16-S233Shift | het unknown | 0.016 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Frameshift |
| 0.5 | CTDP1-S61A | het unknown | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview | |
| 0.5 | CTDP1-T340M | het unknown | 0.085 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.006 (benign), 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 | 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 | 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 | LMAN1-V39A | het unknown | 0.048 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests |
| 0.5 | MAN2B1-N413S | het unknown | 0.055 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.489 (possibly damaging), Testable gene in GeneTests with associated GeneReview |
| 0.5 | MAN2B1-R337Q | het unknown | 0.237 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.027 (benign), Testable gene in GeneTests with associated GeneReview |
| 0.5 | 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 |
| 0.5 | IL6R-D358A | het unknown | 0.266 | Unknown pharmacogenetic | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: 0.911 (probably damaging) |
| 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 | KRT10-H487Y | het unknown | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests | |
| 0.5 | KRT10-G126S | het unknown | 0.109 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: Unknown, Testable gene in GeneTests |
| 0.5 | KRT10-I101S | homozygous | 1.000 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: Unknown, Testable gene in GeneTests |
| 0.5 | GNAT2-V124M | het unknown | 0.008 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.016 (benign), Testable gene in GeneTests with associated GeneReview |
| 0.5 | RHBG-V143D | het unknown | 0.236 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 0.5 | RHBG-G315R | homozygous | 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 | homozygous | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: Unknown | |
| 0.5 | SPAG5-R832Q | het unknown | 0.008 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.996 (probably damaging) |
| 0.5 | WDR62-L850S | homozygous | 0.677 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: Unknown, Testable gene in GeneTests |
| 0.5 | WDR62-Q1310L | het unknown | 0.726 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: Unknown, Testable gene in GeneTests |
| 0.5 | WDR62-G1375S | het unknown | 0.016 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests |
| 0.5 | WDR62-L1390F | het unknown | 0.736 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: Unknown, Testable gene in GeneTests |
| 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 | 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 | COL11A1-S1547P | homozygous | 0.752 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | COL11A1-P1335L | het unknown | 0.479 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | COL11A1-K276N | het unknown | 0.086 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | CYP2A7-V479G | het unknown | 0.787 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 0.5 | CYP2A7-R381W | het unknown | 0.008 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 1.0 (probably damaging) |
| 0.5 | CYP2A7-R311C | het unknown | 0.472 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: 1.0 (probably damaging) |
| 0.5 | CYP2A7-H274R | het unknown | 0.852 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: 0.005 (benign) |
| 0.5 | CYP2A7-D169E | het unknown | 0.632 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: 0.46 (possibly damaging) |
| 0.5 | CYP2A7-S153A | het unknown | 0.540 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 0.5 | CD300LG-R82C | het unknown | 0.016 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.991 (probably damaging) |
| 0.5 | CD300LG-V311A | het unknown | 0.031 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: 0.137 (benign) |
| 0.5 | MAPT-P202L | het unknown | 0.108 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: 0.994 (probably damaging), Testable gene in GeneTests with associated GeneReview |
| 0.5 | MAPT-D285N | het unknown | 0.081 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.014 (benign), Testable gene in GeneTests with associated GeneReview |
| 0.5 | MAPT-V289A | het unknown | 0.081 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | MAPT-R370W | het unknown | 0.116 | Unknown benign | Low clinical importance, uncertain | Probably benign. |
| 0.5 | MAPT-S447P | het unknown | 0.055 | 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-L801V | het unknown | Unknown | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview | |
| 0.5 | SCN4A-V730M | het unknown | 0.008 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: 0.334 (possibly damaging), 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 | COG1-E453Q | het unknown | 0.031 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.11 (benign), Testable gene in GeneTests with associated GeneReview |
| 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 | ZNF737-K516E | het unknown | 0.383 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 0.5 | ZNF737-Y369C | het unknown | 0.023 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.999 (probably damaging) |
| 0.5 | ZNF737-C78G | het unknown | 0.076 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: 0.98 (probably damaging) |
| 0.5 | AKAP1-A18V | het unknown | 0.047 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.96 (probably damaging) |
| 0.5 | PNPO-R116Q | het unknown | 0.036 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: 0.953 (probably damaging), Testable gene in GeneTests |
| 0.5 | PPP1R9B-A303Shift | het unknown | Unknown | Insufficiently evaluated | Prioritization score: 2 Frameshift | |
| 0.5 | PPP1R9B-S301Shift | het unknown | Unknown | Insufficiently evaluated | Prioritization score: 2 Frameshift | |
| 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 | GON4L-T1545Shift | het unknown | Unknown | Insufficiently evaluated | Prioritization score: 2 Frameshift | |
| 0.5 | GON4L-M1544Shift | het unknown | Unknown | Insufficiently evaluated | Prioritization score: 2 Frameshift | |
| 0.5 | GON4L-M1418V | het unknown | 0.383 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 0.5 | SLC24A1-T37S | homozygous | 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 | 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 | KCNQ2-N780T | homozygous | 0.509 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | TOE1-R341H | het unknown | 0.013 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 1.0 (probably damaging) |
| 0.5 | CDAN1-R891C | homozygous | 0.246 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: 0.914 (probably damaging), Testable gene in GeneTests with associated GeneReview |
| 0.5 | CDAN1-Q596R | homozygous | 0.498 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | CDAN1-Q107L | homozygous | 0.175 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | SPTY2D1-E596Shift | het unknown | Unknown | Insufficiently evaluated | Prioritization score: 2 Frameshift | |
| 0.5 | SPTY2D1-D595Del | het unknown | Unknown | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: Unknown | |
| 0.5 | SPTY2D1-R447Q | het unknown | 0.008 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.932 (probably damaging) |
| 0.5 | COL2A1-E142D | het unknown | 0.055 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | COL2A1-T9S | homozygous | 0.598 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 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-D463N | homozygous | 0.177 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.122 (benign), Testable gene in GeneTests with associated GeneReview |
| 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-I723V | het unknown | 0.057 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | LRRK2-M2397T | het unknown | 0.526 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | TPTE-L470P | homozygous | 0.997 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 0.5 | TPTE-R229* | het unknown | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Nonsense mutation | |
| 0.5 | TPTE-R222Del | het unknown | Unknown | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: Unknown | |
| 0.5 | TPTE-R195Q | het unknown | 0.346 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 0.5 | FAAH-P129T | het unknown | 0.237 | Unknown pharmacogenetic | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.001 (benign) |
| 0.5 | USH1C-E819D | homozygous | 0.408 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | IFT81-D134G | het unknown | 0.032 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.998 (probably damaging) |
| 0.5 | MS4A14-I56Shift | het unknown | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Frameshift | |
| 0.5 | MS4A14-N177Y | het unknown | 0.543 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: 0.981 (probably damaging) |
| 0.5 | MS4A14-P250S | het unknown | 0.008 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: 0.002 (benign) |
| 0.5 | MS4A14-G584R | het unknown | 0.513 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: 0.003 (benign) |
| 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 | ALK-D1529E | het unknown | 0.606 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | 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 |
| 0.5 | ALK-I1461V | homozygous | 0.982 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | ZFC3H1-K1807R | het unknown | 0.031 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.92 (probably damaging) |
| 0.5 | CPNE1-A402Shift | het unknown | 0.008 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Frameshift |
| 0.5 | CPNE1-P347R | het unknown | 0.084 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: 0.384 (possibly damaging) |
| 0.5 | CPNE1-Q211R | het unknown | 0.274 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 0.5 | ORC1-S269L | het unknown | 0.008 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.825 (possibly damaging), Testable gene in GeneTests |
| 0.5 | PLAC4-R44P | het unknown | 0.008 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: Unknown |
| 0.5 | PLAC4-R42Shift | het unknown | 0.008 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Frameshift |
| 0.5 | HEBP1-E183D | het unknown | 0.015 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.97 (probably damaging) |
| 0.5 | VWF-G2705R | het unknown | 0.047 | Unknown benign | Low clinical importance, uncertain | Probably benign, seems to be considered an uncommon polymorphism. |
| 0.5 | VWF-Q852R | homozygous | 0.904 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 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 | HSPG2-S4331N | het unknown | 0.157 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: Unknown, Testable gene in GeneTests |
| 0.5 | HSPG2-R3632Q | het unknown | 0.080 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: Unknown, Testable gene in GeneTests |
| 0.5 | HSPG2-H3256Y | het unknown | 0.124 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: Unknown, Testable gene in GeneTests |
| 0.5 | HSPG2-A3168T | het unknown | 0.119 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: Unknown, Testable gene in GeneTests |
| 0.5 | HSPG2-S2995G | het unknown | 0.081 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: Unknown, Testable gene in GeneTests |
| 0.5 | HSPG2-L2980H | het unknown | 0.023 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests |
| 0.5 | HSPG2-G2225S | het unknown | 0.023 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests |
| 0.5 | HSPG2-V1967I | het unknown | 0.031 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests |
| 0.5 | HSPG2-Q1294K | het unknown | 0.048 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests |
| 0.5 | HSPG2-N765S | homozygous | 0.896 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: Unknown, Testable gene in GeneTests |
| 0.5 | HSPG2-M638V | homozygous | 0.978 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: Unknown, Testable gene in GeneTests |
| 0.5 | 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 | ALX4-P102S | homozygous | 0.217 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | ALX4-R35T | homozygous | 0.393 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: 0.985 (probably damaging), Testable gene in GeneTests with associated GeneReview |
| 0.5 | MAP3K11-R730H | het unknown | 0.017 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.91 (probably damaging) |
| 0.5 | SULT1C4-D5E | homozygous | 0.371 | Unknown pharmacogenetic | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: Unknown |
| 0.5 | TMEM132A-R278Q | het unknown | 0.031 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.997 (probably damaging) |
| 0.5 | TMEM132A-E825K | het unknown | 0.453 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 0.5 | TMEM132A-A970V | het unknown | 0.432 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 0.5 | VPS37C-H220R | het unknown | 0.008 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.965 (probably damaging) |
| 0.5 | VPS37C-L198S | homozygous | 0.849 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 0.5 | MEN1-T546A | homozygous | 0.791 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | TET3-P294S | het unknown | 0.016 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.957 (probably damaging) |
| 0.5 | MYO7A-L16S | homozygous | 0.550 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | MYO7A-L1179Q | het unknown | Unknown | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview | |
| 0.5 | MYO7A-L1954I | het unknown | 0.552 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | SNX19-L878R | homozygous | 0.808 | Unknown pharmacogenetic | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: Unknown |
| 0.5 | SNX19-N753S | homozygous | 0.617 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 0.5 | SNX19-L618F | homozygous | 0.994 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 0.5 | SNX19-P480L | het unknown | 0.151 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: 0.977 (probably damaging) |
| 0.5 | SNX19-S407G | het unknown | 0.202 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 0.5 | SNX19-D396E | het unknown | 0.151 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 0.5 | SNX19-G381S | het unknown | 0.151 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: 0.001 (benign) |
| 0.5 | SNX19-V361L | homozygous | 0.671 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 0.5 | WNK1-T1056P | homozygous | 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 | WNK1-M1808I | het unknown | 0.431 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | DCP1B-P498S | het unknown | 0.008 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: Unknown |
| 0.5 | DCP1B-A375V | het unknown | 0.008 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: Unknown |
| 0.5 | DCP1B-R344H | het unknown | 0.030 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: Unknown |
| 0.5 | DCP1B-A324V | het unknown | 0.008 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: Unknown |
| 0.5 | DCP1B-N195D | het unknown | 0.021 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.859 (probably damaging) |
| 0.5 | IL10RA-R351G | homozygous | 0.840 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 0.5 | IL10RA-S420L | het unknown | 0.024 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.983 (probably damaging) |
| 0.5 | ALMS1-S524SP | homozygous | 0.578 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | ALMS1-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-R4029K | homozygous | 0.527 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | CCDC34-N298S | het unknown | 0.023 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.929 (probably damaging) |
| 0.5 | CCDC34-P53S | het unknown | 0.040 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: 0.508 (possibly damaging) |
| 0.5 | DYNC2H1-H341Y | het unknown | 0.079 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: 0.3 (possibly damaging), Testable gene in GeneTests |
| 0.5 | DYNC2H1-E954K | het unknown | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests | |
| 0.5 | DYNC2H1-T1288A | het unknown | 0.081 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: 0.149 (benign), Testable gene in GeneTests |
| 0.5 | DYNC2H1-K1413R | het unknown | 0.602 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: 0.063 (benign), Testable gene in GeneTests |
| 0.5 | DYNC2H1-R2871Q | het unknown | 0.705 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: Unknown, Testable gene in GeneTests |
| 0.5 | DYNC2H1-A3687V | het unknown | 0.292 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: Unknown, Testable gene in GeneTests |
| 0.5 | ATM-S1691R | het unknown | Unknown | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview | |
| 0.5 | ATM-N1983S | homozygous | 0.991 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | CPT2-V368I | homozygous | 0.477 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | MTR-D919G | het unknown | 0.262 | Complex/Other protective | Low clinical importance, uncertain | This variant was weakly associated with a protective effect vs. colorectal cancer, but only in individuals with low alcohol consumption. |
| 0.5 | TXNDC16-D564G | het unknown | 0.016 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: 0.831 (possibly damaging) |
| 0.5 | TXNDC16-E486K | het unknown | 0.262 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: 0.011 (benign) |
| 0.5 | TXNDC16-A180G | het unknown | 0.039 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.991 (probably damaging) |
| 0.5 | DISC1-S704C | het unknown | 0.246 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: 0.877 (probably damaging) |
| 0.5 | DISC1-E751Q | het unknown | 0.016 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.899 (probably damaging) |
| 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 | C14orf23-K115Shift | het unknown | Unknown | Insufficiently evaluated | Prioritization score: 2 Frameshift | |
| 0.5 | C14orf23-K116Shift | het unknown | Unknown | Insufficiently evaluated | Prioritization score: 2 Frameshift | |
| 0.5 | 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 | HIP1R-C938F | het unknown | 0.008 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 1.0 (probably damaging) |
| 0.5 | SCN1A-A1056T | homozygous | 0.806 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | DEFB126-P106Shift | het unknown | 0.023 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Frameshift |
| 0.5 | ZNF154-R192* | het unknown | 0.016 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Nonsense mutation |
| 0.5 | EPHX1-Y113H | het unknown | 0.290 | Unknown pharmacogenetic | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: 0.997 (probably damaging) |
| 0.5 | DISP2-P47A | homozygous | 0.754 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 0.5 | DISP2-C56S | het unknown | 0.675 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: 0.999 (probably damaging) |
| 0.5 | DISP2-Y375F | het unknown | 0.008 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.882 (probably damaging) |
| 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 | PRSS38-M204V | homozygous | 0.791 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 0.5 | PRSS38-I224N | het unknown | 0.038 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.992 (probably damaging) |
| 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 | RDH12-R161Q | het unknown | 0.076 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: 0.941 (probably damaging), Testable gene in GeneTests with associated GeneReview |
| 0.5 | MLH3-P844L | het unknown | 0.298 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.002 (benign), Testable gene in GeneTests with associated GeneReview |
| 0.5 | MLH3-N826D | homozygous | 0.981 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | MLH3-E624Q | het unknown | 0.016 | Unknown benign | Low clinical importance, uncertain | Probably benign, follow-up studies have failed to support any link with colorectal cancer and the protein function is identical to wildtype. |
| 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 | het unknown | 0.446 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.167 (benign), Testable gene in GeneTests with associated GeneReview |
| 0.5 | GMPR2-G242D | het unknown | 0.016 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 1.0 (probably damaging) |
| 0.5 | NLRP3-Q705K | het unknown | 0.016 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests |
| 0.5 | ATP7B-V1140A | homozygous | 0.495 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | ATP7B-R952K | homozygous | 0.481 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | ATP7B-K832R | homozygous | 0.455 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.461 (possibly damaging), Testable gene in GeneTests with associated GeneReview |
| 0.5 | ATP7B-V456L | het unknown | 0.360 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.006 (benign), Testable gene in GeneTests with associated GeneReview |
| 0.5 | ATP7B-S406A | het unknown | 0.355 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.001 (benign), Testable gene in GeneTests with associated GeneReview |
| 0.5 | COL4A1-T555P | homozygous | 0.994 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | COL4A1-V7L | het unknown | 0.211 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | INSC-D333N | het unknown | 0.007 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.985 (probably damaging) |
| 0.5 | SUCLA2-S199T | homozygous | 0.722 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | SACS-N232K | het unknown | 0.083 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: 0.98 (probably damaging), Testable gene in GeneTests with associated GeneReview |
| 0.5 | SLC5A6-L573F | het unknown | 0.034 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.98 (probably damaging) |
| 0.5 | SLC5A6-S481F | het unknown | 0.511 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: 0.956 (probably damaging) |
| 0.5 | BRCA2-N289H | het unknown | 0.062 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | BRCA2-N991D | het unknown | 0.069 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | BRCA2-V2466A | homozygous | 0.954 | Dominant benign | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | BRCA2-A2951T | het unknown | Unknown | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview | |
| 0.5 | TPO-A373S | het unknown | 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-T725P | het unknown | 0.524 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: Unknown, 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 | RYR2-Q2958R | homozygous | 0.133 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | NEB-K2613N | het unknown | 0.138 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | NEB-V1491M | homozygous | 0.453 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | NEB-Y1301H | homozygous | 0.668 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | NEB-K1027N | homozygous | 0.476 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.375 | COL6A3-T3069I | het unknown | 0.364 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.375 | COL6A3-A3012P | het unknown | 0.843 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.375 | COL6A3-M2927T | het unknown | 0.674 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.375 | COL6A3-R1535H | het unknown | Unknown | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview | |
| 0.375 | AIPL1-G262S | het unknown | Unknown | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview | |
| 0.375 | AIPL1-D90H | het unknown | 0.210 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.029 (benign), Testable gene in GeneTests with associated GeneReview |
| 0.375 | FLNB-K744R | het unknown | Unknown | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview | |
| 0.375 | FLNB-D1157N | het unknown | 0.538 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: 0.997 (probably damaging), Testable gene in GeneTests with associated GeneReview |
| 0.375 | FLNB-V1471M | het unknown | 0.607 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.02 (benign), Testable gene in GeneTests with associated GeneReview |
| 0.375 | TTBK2-I195V | het unknown | Unknown | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview | |
| 0.375 | TTBK2-L8P | het unknown | 0.560 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.375 | 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 | TRIOBP-S217N | het unknown | 0.413 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.914 (probably damaging), Testable gene in GeneTests |
| 0.375 | TRIOBP-Q398Del | het unknown | 0.308 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: Unknown, Testable gene in GeneTests |
| 0.375 | TRIOBP-T715I | het unknown | Unknown | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests | |
| 0.375 | TRIOBP-N863K | het unknown | 0.342 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.98 (probably damaging), Testable gene in GeneTests |
| 0.375 | TRIOBP-F1187L | het unknown | 0.320 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.995 (probably damaging), Testable gene in GeneTests |
| 0.375 | TRIOBP-H1300R | homozygous | 0.431 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: 0.006 (benign), Testable gene in GeneTests |
| 0.375 | TRIOBP-E1372D | het unknown | 0.237 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: 0.293 (possibly damaging), Testable gene in GeneTests |
| 0.375 | TRIOBP-W1377R | homozygous | 0.964 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: 0.084 (benign), Testable gene in GeneTests |
| 0.375 | FKTN-R56C | het unknown | Unknown | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview | |
| 0.375 | FKTN-R203Q | het unknown | 0.177 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.166 (benign), Testable gene in GeneTests with associated GeneReview |
| 0.25 | MERTK-R20S | het unknown | Unknown | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests | |
| 0.25 | MERTK-R466K | homozygous | 0.550 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: Unknown, Testable gene in GeneTests |
| 0.25 | MERTK-I518V | homozygous | 0.550 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: Unknown, Testable gene in GeneTests |
| 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 | TMEM22-G65Shift | het unknown | Unknown | Insufficiently evaluated | Prioritization score: 2 Frameshift | |
| 0.25 | TMEM22-K400R | het unknown | 0.697 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 0.25 | NOTCH2-P210L | het unknown | 0.333 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.25 | 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 | MZT2A-R136H | het unknown | 0.210 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: 0.999 (probably damaging) |
| 0.25 | MZT2A-H127R | het unknown | 0.218 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 0.25 | MZT2A-S12Shift | het unknown | Unknown | Insufficiently evaluated | Prioritization score: 2 Frameshift | |
| 0.25 | BCHE-A567T | het unknown | 0.138 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: Unknown, Testable gene in GeneTests |
| 0.25 | BCHE-D98G | het unknown | Unknown | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests | |
| 0.25 | GSTM1-P179L | het unknown | Unknown | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests | |
| 0.25 | GSTM1-S210T | homozygous | 0.589 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: Unknown, Testable gene in GeneTests |
| 0.25 | LRP2-I4210L | homozygous | 0.462 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: 0.993 (probably damaging) |
| 0.25 | LRP2-K4094E | het unknown | 0.744 | Unknown pharmacogenetic | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: Unknown |
| 0.25 | LRP2-A2872T | het unknown | 0.327 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 0.25 | LRP2-N83S | homozygous | 0.306 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: 0.001 (benign) |
| 0.25 | FMO2-F182S | het unknown | 0.119 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 0.25 | FMO2-S195L | het unknown | 0.465 | Unknown pharmacogenetic | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: Unknown |
| 0.25 | FMO2-E314G | het unknown | 0.128 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 0.25 | FMO2-E438K | het unknown | Unknown | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: Unknown | |
| 0.25 | PRAMEF11-D423Shift | het unknown | Unknown | Insufficiently evaluated | Prioritization score: 2 Frameshift | |
| 0.25 | PRAMEF11-H421C | het unknown | Unknown | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: Unknown | |
| 0.25 | PRAMEF11-N417Y | het unknown | Unknown | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: Unknown | |
| 0.25 | LRIG1-Q1053P | het unknown | 0.115 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: 0.986 (probably damaging) |
| 0.25 | LRIG1-M615V | het unknown | 0.372 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: 0.057 (benign) |
| 0.25 | LRIG1-A518Shift | het unknown | Unknown | Insufficiently evaluated | Prioritization score: 2 Frameshift | |
| 0.25 | LRIG1-L26V | homozygous | 0.991 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: 0.006 (benign) |
| 0.25 | LRIG1-L24V | homozygous | 0.562 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: 0.08 (benign) |
| 0.25 | GPR37L1-G90D | het unknown | 0.847 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 0.25 | GPR37L1-R336* | het unknown | Unknown | Insufficiently evaluated | Prioritization score: 2 Nonsense mutation | |
| 0.25 | MYH15-T1125A | het unknown | 0.180 | Unknown pharmacogenetic | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: 0.007 (benign) |
| 0.25 | MYH15-H504Y | het unknown | 0.578 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: 0.997 (probably damaging) |
| 0.25 | COL4A4-S1400P | het unknown | 0.504 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.25 | COL4A4-V1327M | het unknown | 0.464 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.25 | COL4A4-P1004L | het unknown | 0.528 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.25 | COL4A4-P482S | het unknown | 0.493 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.25 | CCDC66-D5Shift | het unknown | Unknown | Insufficiently evaluated | Prioritization score: 2 Frameshift | |
| 0.25 | CCDC66-Q383R | homozygous | 0.934 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 0.25 | CCDC66-S606SS | homozygous | Unknown | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: Unknown | |
| 0.25 | CCDC66-E835V | het unknown | 0.076 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: 0.063 (benign) |
| 0.25 | CCDC66-L836S | het unknown | 0.076 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: 0.001 (benign) |
| 0.25 | ABCB11-V444A | het unknown | 0.606 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.002 (benign), Testable gene in GeneTests with associated GeneReview |
| 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 | ATG16L1-T300A | het unknown | 0.347 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 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 | DRD3-G9S | het unknown | 0.482 | Unknown pharmacogenetic | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: Unknown |
| 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 | AOX1-N1135S | het unknown | 0.195 | 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 | MCEE-R104L | het unknown | 0.194 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.003 (benign), Testable gene in GeneTests with associated GeneReview |
| 0.25 | 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 | HMCN1-I2418T | het unknown | 0.553 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: 0.468 (possibly damaging), Testable gene in GeneTests |
| 0.25 | HMCN1-E2893G | het unknown | 0.617 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.91 (probably damaging), Testable gene in GeneTests |
| 0.25 | TSEN15-G19D | het unknown | 0.295 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.932 (probably damaging) |
| 0.25 | TSEN15-Q59H | het unknown | 0.283 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: 0.961 (probably damaging) |
| 0.25 | IGSF11-E333D | het unknown | 0.235 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: 0.002 (benign) |
| 0.25 | IGSF11-P39T | het unknown | 0.855 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Frameshift |
| 0.25 | IGSF11-P39T | het unknown | 0.855 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Frameshift |
| 0.25 | FMO3-E158K | het unknown | 0.374 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.25 | FMO3-E308G | het unknown | 0.104 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.141 (benign), Testable gene in GeneTests with associated GeneReview |
| 0.25 | UNC5B-C705Shift | het unknown | Unknown | Insufficiently evaluated | Prioritization score: 2 Frameshift | |
| 0.25 | UNC5B-A703APAPA | het unknown | Unknown | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: Unknown | |
| 0.25 | ASB8-R260H | het unknown | 0.055 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: 0.008 (benign) |
| 0.25 | ASB8-R255Shift | het unknown | Unknown | Insufficiently evaluated | Prioritization score: 2 Frameshift | |
| 0.25 | MYH11-A1241T | het unknown | 0.223 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.25 | SLC28A1-V189I | het unknown | 0.313 | Unknown pharmacogenetic | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: Unknown |
| 0.25 | SLC28A1-D521N | het unknown | 0.226 | Unknown pharmacogenetic | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: Unknown |
| 0.25 | TLN2-S460* | het unknown | Unknown | Insufficiently evaluated | Prioritization score: 2 Nonsense mutation | |
| 0.25 | TLN2-SG461RR | het unknown | 0.009 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: Unknown |
| 0.25 | TLN2-F2266L | homozygous | 0.191 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 0.25 | SLC28A2-P22L | het unknown | 0.248 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 0.25 | SLC28A2-S75R | het unknown | 0.253 | Unknown pharmacogenetic | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: Unknown |
| 0.25 | GATM-Q110H | het unknown | 0.651 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 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 | ABCC12-R1117C | homozygous | 0.551 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 0.25 | ABCC12-S473Shift | 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 | 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 | NLRP1-M1184V | het unknown | 0.433 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 0.25 | NLRP1-V1059M | het unknown | 0.165 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: 0.006 (benign) |
| 0.25 | NLRP1-L155H | het unknown | 0.120 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.064 (benign) |
| 0.25 | FANCA-G501S | het unknown | 0.654 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.25 | 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 |
| 0.25 | GPR172B-F389Shift | het unknown | Unknown | Insufficiently evaluated | Prioritization score: 2 Frameshift | |
| 0.25 | GPR172B-V296M | het unknown | 0.288 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: 0.04 (benign) |
| 0.25 | GPR172B-A271V | het unknown | 0.536 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 0.25 | GPR172B-Q70R | homozygous | 0.926 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 0.25 | EIF2AK4-E556G | homozygous | 0.860 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 0.25 | EIF2AK4-D737DDD | homozygous | Unknown | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: Unknown | |
| 0.25 | EIF2AK4-R820* | het unknown | Unknown | Insufficiently evaluated | Prioritization score: 2 Nonsense mutation | |
| 0.25 | SERPINA1-V237A | het unknown | 0.293 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.25 | B3GALTL-E370K | het unknown | 0.612 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.088 (benign), Testable gene in GeneTests with associated GeneReview |
| 0.25 | ATXN2-L107V | het unknown | 0.311 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.25 | MMAB-M239K | het unknown | 0.469 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.25 | MMAB-R19Q | het unknown | 0.283 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.25 | 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 | GRIP1-Q769E | homozygous | 0.881 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 0.25 | GRIP1-E254* | het unknown | Unknown | Insufficiently evaluated | Prioritization score: 2 Nonsense mutation | |
| 0.25 | FREM2-S745P | homozygous | 0.994 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: Unknown, Testable gene in GeneTests |
| 0.25 | FREM2-R2512H | het unknown | Unknown | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests | |
| 0.25 | CARKD-A38Shift | het unknown | Unknown | Insufficiently evaluated | Prioritization score: 2 Frameshift | |
| 0.25 | CARKD-I312T | het unknown | 0.076 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 0.25 | CARKD-I312T | het unknown | 0.076 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 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 | 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 | PYGL-V222I | het unknown | 0.119 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.336 (possibly damaging), Testable gene in GeneTests with associated GeneReview |
| 0.25 | C14orf93-E484Shift | het unknown | Unknown | Insufficiently evaluated | Prioritization score: 2 Frameshift | |
| 0.25 | C14orf93-A190V | het unknown | Unknown | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: Unknown | |
| 0.25 | TEP1-I2486M | het unknown | 0.373 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.25 | TEP1-V2214I | het unknown | 0.326 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.25 | TEP1-C1468Y | het unknown | 0.268 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.25 | TEP1-S1195P | het unknown | 0.703 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.25 | TEP1-R1055C | het unknown | 0.631 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 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-E1033Q | het unknown | 0.256 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.25 | CCDC144A-F394L | het unknown | 0.031 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: Unknown |
| 0.25 | CCDC144A-M437T | het unknown | 0.008 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: Unknown |
| 0.25 | CCDC144A-E442Shift | het unknown | Unknown | Insufficiently evaluated | Prioritization score: 2 Frameshift | |
| 0.25 | CCDC144A-V1233A | het unknown | Unknown | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: Unknown | |
| 0.25 | RAI1-G90A | het unknown | 0.281 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.25 | RAI1-P165T | het unknown | 0.542 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: 0.999 (probably damaging), Testable gene in GeneTests with associated GeneReview |
| 0.25 | MYH7B-E372G | het unknown | Unknown | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: Unknown | |
| 0.25 | MYH7B-G796Shift | 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 | MYH7B-K1552N | het unknown | 0.170 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 0.25 | THBD-A473V | het unknown | 0.117 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.25 | SIGLEC1-L1648Shift | het unknown | Unknown | Insufficiently evaluated | Prioritization score: 2 Frameshift | |
| 0.25 | SIGLEC1-A974V | het unknown | 0.547 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: 0.011 (benign) |
| 0.25 | SIGLEC1-H919P | het unknown | 0.746 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 0.25 | SIGLEC1-K239R | het unknown | 0.601 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: 0.001 (benign) |
| 0.25 | SIGLEC1-V221M | het unknown | 0.706 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: 0.03 (benign) |
| 0.25 | BRSK1-M306Shift | het unknown | Unknown | Insufficiently evaluated | Prioritization score: 2 Frameshift | |
| 0.25 | BRSK1-G749S | het unknown | 0.078 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 0.25 | TRIB3-Q84R | het unknown | 0.188 | Unknown pharmacogenetic | Insufficiently evaluated | Prioritization score: 1 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 | MMP9-R668Q | het unknown | 0.187 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 0.25 | SALL4-I798L | het unknown | 0.100 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.001 (benign), Testable gene in GeneTests with associated GeneReview |
| 0.25 | PNPLA3-I148M | het unknown | 0.268 | Unknown pharmacogenetic | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: 0.778 (possibly damaging) |
| 0.25 | PNPLA3-K434E | homozygous | 0.801 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 0.25 | ARSA-T391S | het unknown | 0.423 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.25 | PCNT-T539I | het unknown | 0.147 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: 0.009 (benign), Testable gene in GeneTests |
| 0.25 | PCNT-G704E | het unknown | 0.855 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: Unknown, Testable gene in GeneTests |
| 0.25 | PCNT-T879A | het unknown | 0.360 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: 0.707 (possibly damaging), Testable gene in GeneTests |
| 0.25 | PCNT-V1038A | het unknown | 0.847 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: Unknown, Testable gene in GeneTests |
| 0.25 | PCNT-R1163C | het unknown | 0.125 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 1.0 (probably damaging), Testable gene in GeneTests |
| 0.25 | PCNT-I1639V | het unknown | 0.383 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: Unknown, Testable gene in GeneTests |
| 0.25 | PCNT-P2274L | het unknown | 0.355 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: 0.012 (benign), Testable gene in GeneTests |
| 0.25 | PCNT-Q2659H | homozygous | 0.572 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: 0.849 (possibly damaging), Testable gene in GeneTests |
| 0.25 | PCNT-Q2792R | homozygous | 0.732 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: 0.006 (benign), Testable gene in GeneTests |
| 0.25 | PCNT-R3245S | het unknown | 0.273 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: 0.657 (possibly damaging), Testable gene in GeneTests |
| 0.25 | SLC19A1-H27R | het unknown | 0.447 | Unknown pharmacogenetic | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: 0.002 (benign) |
| 0.25 | KCNE1-S38G | het unknown | 0.710 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.003 (benign), Testable gene in GeneTests with associated GeneReview |
| 0.25 | CBR3-C4Y | het unknown | 0.391 | Unknown pharmacogenetic | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: 0.002 (benign) |
| 0.25 | CBR3-V244M | het unknown | 0.398 | Unknown pharmacogenetic | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: 0.014 (benign) |
| 0.25 | SIGLEC5-P499A | homozygous | 0.473 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: 0.926 (probably damaging) |
| 0.25 | SIGLEC5-A277Shift | het unknown | Unknown | Insufficiently evaluated | Prioritization score: 2 Frameshift | |
| 0.25 | ZNF224-R61G | het unknown | 0.016 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: 0.509 (possibly damaging) |
| 0.25 | ZNF224-M118V | het unknown | 0.793 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 0.25 | ZNF224-H162L | het unknown | 0.780 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: 0.262 (possibly damaging) |
| 0.25 | ZNF224-K640E | het unknown | 0.593 | Unknown pharmacogenetic | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: Unknown |
| 0.25 | LLGL2-F479L | homozygous | 0.522 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 0.25 | LLGL2-Q540Shift | het unknown | Unknown | Insufficiently evaluated | Prioritization score: 2 Frameshift | |
| 0.25 | LLGL2-V542A | het unknown | Unknown | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: Unknown | |
| 0.25 | LLGL2-P759S | het unknown | 0.462 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: 0.002 (benign) |
| 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 | XYLT2-R305T | het unknown | 0.125 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 0.25 | XYLT2-T801R | het unknown | 0.225 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown |
| 0.25 | KRT14-A94T | het unknown | 0.269 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.25 | KRT14-C63Y | het unknown | 0.976 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.25 | 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 | 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 | 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 | NPHS1-N1077S | het unknown | 0.132 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.993 (probably damaging), Testable gene in GeneTests |
| 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 | 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 | STXBP2-I526V | het unknown | 0.725 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.25 | RAX-D44E | het unknown | 0.189 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.003 (benign), Testable gene in GeneTests with associated GeneReview |
| 0.25 | NM_173627-R112Q | het unknown | 0.088 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: 0.027 (benign) |
| 0.25 | NM_173627-V122Shift | het unknown | Unknown | Insufficiently evaluated | Prioritization score: 2 Frameshift | |
| 0.25 | DSC2-I776V | het unknown | 0.223 | 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 | DQ580909-W60R | homozygous | Unknown | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: Unknown | |
| 0.25 | DQ580909-S62P | het unknown | Unknown | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: Unknown | |
| 0.25 | DQ580909-T87A | homozygous | Unknown | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: Unknown | |
| 0.25 | DQ580909-E169A | het unknown | Unknown | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: Unknown | |
| 0.25 | DQ580909-S171* | het unknown | Unknown | Insufficiently evaluated | Prioritization score: 2 Nonsense mutation | |
| 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 | LAMA2-A2585V | homozygous | 0.594 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: Unknown, Testable gene in GeneTests |
| 0.25 | LAMA2-K3072R | het unknown | Unknown | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests | |
| 0.25 | RSPH4A-L589P | het unknown | 0.707 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.25 | LCA5-L24S | het unknown | 0.904 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.001 (benign), 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 | PLG-D472N | het unknown | 0.151 | Unknown pharmacogenetic | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: Unknown |
| 0.25 | NPSR1-N107I | het unknown | 0.462 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown |
| 0.25 | C8orf49-G26R | homozygous | Unknown | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: Unknown | |
| 0.25 | C8orf49-I81V | het unknown | Unknown | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: Unknown | |
| 0.25 | C8orf49-R95G | het unknown | Unknown | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: Unknown | |
| 0.25 | C8orf49-C194* | het unknown | Unknown | Insufficiently evaluated | Prioritization score: 2 Nonsense mutation | |
| 0.25 | SLCO1B3-S112A | het unknown | 0.646 | Unknown pharmacogenetic | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: Unknown |
| 0.25 | SLCO1B3-M233I | het unknown | 0.659 | Unknown pharmacogenetic | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: 0.131 (benign) |
| 0.25 | CLCN1-G118W | het unknown | 0.995 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.25 | PON2-S311C | het unknown | 0.258 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 0.25 | PON2-A148G | het unknown | 0.257 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown |
| 0.25 | NR_002144-DDDFE68Del | het unknown | Unknown | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: Unknown | |
| 0.25 | NR_002144-SE75P | het unknown | Unknown | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: Unknown | |
| 0.25 | NR_002144-L77Shift | het unknown | Unknown | Insufficiently evaluated | Prioritization score: 2 Frameshift | |
| 0.25 | NR_002144-Q280R | het unknown | 0.858 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 0.25 | NR_002144-Y307H | het unknown | 0.858 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 0.25 | NR_002144-L312R | het unknown | 0.856 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 0.25 | RSPH9-V261I | het unknown | 0.122 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.25 | ABCC10-F74Shift | het unknown | Unknown | Insufficiently evaluated | Prioritization score: 2 Frameshift | |
| 0.25 | ABCC10-I948T | het unknown | 0.198 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 0.25 | NIPBL-N674S | het unknown | 0.129 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.028 (benign), Testable gene in GeneTests with associated GeneReview |
| 0.25 | AK298931-E88Q | homozygous | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: Unknown | |
| 0.25 | AK298931-W38* | het unknown | Unknown | Insufficiently evaluated | Prioritization score: 2 Nonsense mutation | |
| 0.25 | AK298931-T4S | het unknown | Unknown | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: Unknown | |
| 0.25 | BANK1-A383T | het unknown | 0.233 | Unknown pharmacogenetic | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: 0.778 (possibly damaging) |
| 0.25 | BANK1-C650R | homozygous | 0.990 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 0.25 | TLR1-S602I | het unknown | 0.727 | Unknown pharmacogenetic | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: Unknown |
| 0.25 | TLR1-N248S | het unknown | 0.643 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: 0.001 (benign) |
| 0.25 | TLR6-S249P | het unknown | 0.855 | Unknown pharmacogenetic | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: Unknown |
| 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 | SRA1-V110RL | het unknown | 0.360 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.25 | PEX6-P939Q | het unknown | 0.339 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.25 | COL11A2-E276K | het unknown | 0.320 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.651 (possibly damaging), Testable gene in GeneTests with associated GeneReview |
| 0.25 | RNF39-A304E | het unknown | 0.238 | Unknown pharmacogenetic | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: Unknown |
| 0.25 | RNF39-G263C | het unknown | 0.102 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 0.25 | RNF39-S203P | het unknown | 0.223 | Unknown pharmacogenetic | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: Unknown |
| 0.25 | NIPAL4-R213G | het unknown | 0.505 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.001 (benign), Testable gene in GeneTests with associated GeneReview |
| 0.25 | CDHR2-V424A | homozygous | 1.000 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 0.25 | CDHR2-N1122Shift | het unknown | Unknown | Insufficiently evaluated | Prioritization score: 2 Frameshift | |
| 0.25 | EPHA1-M900V | homozygous | 0.953 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 0.25 | EPHA1-P292Shift | het unknown | Unknown | Insufficiently evaluated | Prioritization score: 2 Frameshift | |
| 0.25 | EPHA1-V160A | homozygous | 0.934 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 0.25 | C10orf93-S264N | homozygous | Unknown | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: Unknown | |
| 0.25 | C10orf93-Q7* | het unknown | Unknown | Insufficiently evaluated | Prioritization score: 2 Nonsense mutation | |
| 0.25 | ZNF215-M119V | homozygous | 0.253 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: 0.007 (benign) |
| 0.25 | ZNF215-R390* | het unknown | Unknown | Insufficiently evaluated | Prioritization score: 2 Nonsense mutation | |
| 0.25 | TRIM5-H419Y | het unknown | 0.039 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: Unknown |
| 0.25 | TRIM5-A168Shift | het unknown | Unknown | Insufficiently evaluated | Prioritization score: 2 Frameshift | |
| 0.25 | TRIM5-V112F | het unknown | 0.079 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 0.25 | TRIM5-H43Y | het unknown | 0.102 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 0.25 | H19-G355R | het unknown | 0.359 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.25 | H19-V94I | het unknown | 0.361 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.25 | H19-W38R | het unknown | 0.342 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.25 | ADAM28-N75Shift | het unknown | Unknown | Insufficiently evaluated | Prioritization score: 2 Frameshift | |
| 0.25 | ADAM28-V765M | homozygous | 0.950 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 0.25 | IRF7-Q412R | het unknown | 0.465 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: 0.001 (benign) |
| 0.25 | IRF7-S388Shift | het unknown | Unknown | Insufficiently evaluated | Prioritization score: 2 Frameshift | |
| 0.25 | IRF7-A387P | het unknown | Unknown | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: Unknown | |
| 0.25 | IRF7-K179E | het unknown | 0.473 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: 0.137 (benign) |
| 0.25 | PLEKHA7-E763Shift | het unknown | Unknown | Insufficiently evaluated | Prioritization score: 2 Frameshift | |
| 0.25 | PLEKHA7-V693I | het unknown | Unknown | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: Unknown | |
| 0.25 | ABCC8-A1369S | het unknown | 0.755 | 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 | 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 | PDE2A-C262Shift | het unknown | Unknown | Insufficiently evaluated | Prioritization score: 2 Frameshift | |
| 0.25 | PDE2A-R261C | het unknown | Unknown | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: Unknown | |
| 0.25 | POLA2-G583R | het unknown | 0.118 | Unknown pharmacogenetic | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: 0.024 (benign) |
| 0.25 | PCNXL3-Q258R | homozygous | 1.000 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 0.25 | PCNXL3-S458C | het unknown | 0.248 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: 0.065 (benign) |
| 0.25 | PCNXL3-T1206Shift | het unknown | Unknown | Insufficiently evaluated | Prioritization score: 2 Frameshift | |
| 0.25 | GPR123-G55S | homozygous | 0.656 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 0.25 | GPR123-R60G | homozygous | 0.653 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 0.25 | GPR123-A218P | het unknown | 0.585 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 0.25 | GPR123-G496Shift | het unknown | Unknown | Insufficiently evaluated | Prioritization score: 2 Frameshift | |
| 0.25 | GPR123-R539G | het unknown | 0.600 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 0.25 | KANK1-E432Q | het unknown | 0.145 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: 0.009 (benign) |
| 0.25 | KANK1-Y845Shift | het unknown | Unknown | Insufficiently evaluated | Prioritization score: 2 Frameshift | |
| 0.25 | KANK1-S846R | het unknown | Unknown | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: Unknown | |
| 0.25 | C10orf92-S2266G | homozygous | Unknown | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: Unknown | |
| 0.25 | C10orf92-A2057T | homozygous | Unknown | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: Unknown | |
| 0.25 | C10orf92-N1833Shift | het unknown | Unknown | Insufficiently evaluated | Prioritization score: 2 Frameshift | |
| 0.25 | C10orf92-R199S | homozygous | Unknown | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: Unknown | |
| 0.25 | C10orf92-I191L | homozygous | Unknown | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: Unknown | |
| 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 | NBN-E185Q | het unknown | 0.338 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.25 | CHRNA2-T125A | het unknown | 0.644 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.25 | EPHX2-R287Q | het unknown | 0.148 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: 1.0 (probably damaging) |
| 0.25 | GPT-H14N | het unknown | 0.363 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.25 | CALHM1-L86P | het unknown | 1.000 | Unknown pharmacogenetic | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: Unknown |
| 0.25 | MUSK-S159G | het unknown | 0.134 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.001 (benign), Testable gene in GeneTests with associated GeneReview |
| 0.25 | BMPR1A-P2T | het unknown | 0.549 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.25 | MARCH8-Y548H | het unknown | 0.279 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 0.25 | MARCH8-R286Shift | het unknown | Unknown | Insufficiently evaluated | Prioritization score: 2 Frameshift | |
| 0.25 | MARCH8-F277L | het unknown | 0.181 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 0.25 | MARCH8-L269W | het unknown | 0.140 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 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 | 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 | ALG3-F200Shift | het unknown | Unknown | Insufficiently evaluated | Prioritization score: 4 Frameshift, Testable gene in GeneTests with associated GeneReview | |
| 0 | SNCA-A69Shift | het unknown | Unknown | Insufficiently evaluated | Prioritization score: 4 Frameshift, Testable gene in GeneTests with associated GeneReview | |
| 0 | RHAG-V270I | het unknown | 0.053 | Recessive pathogenic | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 0 | CBS-I278T | het unknown | Recessive pathogenic | Insufficiently evaluated | Prioritization score: 4 Polyphen 2: 0.047 (benign), Testable gene in GeneTests with associated GeneReview |
Input file format: CGIVAR
Genome build: b37
Genome coverage: 2,764,535,184 bases (96.7% of callable positions, 89.7% of total positions)
Coding region coverage: 32,936,342 bases (99.0% of all genes, 99.5% of genes with clinical testing available)
Chromosomes: chr1, chr10, chr11, chr12, chr13, chr14, chr15, chr16, chr17, chr18, chr19, chr2, chr20, chr21, chr22, chr3, chr4, chr5, chr6, chr7, chr8, chr9, chrM, chrX, chrY