Variant report for hu0E64A1
- Data source: CGI sample GS01173-DNA_B02 from PGP sample 94378523
- This report: evidence.pgp-hms.org/genomes?ded1b4198f381bc70994cc69602ac6c1b84aad48
- Person ID: hu0E64A1
- public profile: my.pgp-hms.org/profile/hu0E64A1
- Download: source data, dbSNP and nsSNP report (122 MB)
- Processing status: processing
- Show debugging info
Log file:
| Row number | Variant | Clinical Importance | Evidence | Impact | Allele freq | Summary | Sufficient |
|---|---|---|---|---|---|---|---|
| 1 | C3-R102G | Moderate | Likely | Likely pathogenic Complex/Other, Heterozygous | 0.152073 | This variant (also called C3F) is common in Europeans (10.2% allele frequency), and is associated with age-related macular degeneration. In the US, 1.5% of adults over 40 have the disease, but the incidence increases strongly with age (>15% in women over 80). Assuming an average lifetime risk of ~10%, heterozygous individuals have a ~13% risk and homozygous have ~20%. | 1 |
| 2 | HABP2-G534E | Moderate | Likely | Likely pathogenic Unknown, Heterozygous | 0.0280721 | Known as the "Marburg I" polymorphism, this variant is associated with increased risk of coronary heart disease (CHD) in individuals with elevated cholesterol, triglyceride, and fibrinogen levels (5-fold risk of a CHD event, compared to 2-fold risk increase in people with the same risk factors but do not have this variant). In individuals without these elevated levels, however, carriers of the variant do not appear to have any increased risk of CHD. | 1 |
| 3 | MTRR-I49M | Low | Likely | Likely pathogenic Recessive, Carrier (Heterozygous) | 0.451199 | This common variant (HapMap allele frequency of 31.3%) in a protein involved in folate (B9) and cobalamin (B12) metabolism and is often reported as "MTRR I22M" (an alternative transcript position). Mothers homozygous for this variant are associated with having around a increased chance of a child with Down syndrome (risk of 0.4%, average risk in population is 0.25%). Notably, age plays a far larger role in the rate of Down syndrome (risk is 4.5% for a mother 45-years-of-age), and it is unknown how this variant may combine with the effect of age. There are conflicting reports associating this variant with incidence of neural tube defects, possibly when combined with MTHFR A222V. | 1 |
| 4 | RNASEL-R462Q | Low | Uncertain | Uncertain pathogenic Complex/Other, Heterozygous | 0.278026 | Associated with increased risk of prostate cancer in individuals who already have a family history of prostate cancer, but studies have been unable to replicate this finding in sporadic (non-familial) prostate cancer cases. | 1 |
| 5 | 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 |
| 6 | LRP5-A1330V | Low | Uncertain | Uncertain pathogenic Complex/Other, Heterozygous | 0.110367 | In a study of a UK population this variant was associated with a small increased risk of osteoporosis and osteoporotic bone fractures, with each copy of the variant presumed to have an additive effect. A study in Chinese young men failed to find an association with peak bone density. | 1 |
| 7 | 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 |
| 8 | DYX1C1-E417X | Low | Uncertain | Uncertain pathogenic Unknown, Heterozygous | 0.20147 | One study reports this variant to be associated with dyslexia. The study group was relatively small and so the results did not have strong significance. If they are representative this variant is associated with a doubled risk for dyslexia, but it is unclear whether the effect would be additive, dominant, or recessive. | 1 |
| 9 | 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 |
| 10 | PRNP-M129V | Low | Well-established | Well-established protective Complex/Other, Heterozygous | 0.339561 | This variant is associated with some protective effects for prion disease -- individuals homozygous for this variant are less susceptible to Creutzfeldt-Jakob, and Papua New Guinea individuals heterozygotes at this site are less susceptible to kuru. | 1 |
| 11 | NPC1-H215R | Low | Likely | Likely protective Complex/Other, Homozygous | 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 |
| 12 | KCNJ11-K23E | Low | Likely | Likely protective Unknown, Homozygous | 0.738148 | This variant is associated with decreased risk of type 2 diabetes. It is unclear whether this variant has additive effects, or acts in a dominant or recessive manner. Assuming diabetes has a lifetime risk of 36%, we estimate a decreased risk of around 1-2% per copy of this variant. | 1 |
| 13 | TGFB1-T263I | Low | Uncertain | Uncertain protective Dominant, Heterozygous | 0.0205429 | Carriers may be less likely to have cleft lip and palate congenital deformity. | 1 |
| 14 | 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 |
| 15 | IRS2-G1057D | Low | Uncertain | Uncertain protective Unknown, Homozygous | 0.232615 | a.k.a Gly1057Asp, insulin receptor substrate-2 IRS2. The rs1805097(G) allele is associated with the Gly, and the (A) allele with Asp. A longevity study concluded that rs1805097(A;A) individuals were about twice as likely to live over 85 y/o (odds ratio 2.03, CI:1.39-2.99, p = .0003). | 1 |
| 16 | HTRA2-A141S | Low | Likely | Likely benign Unknown, Heterozygous | 0.016814 | Probably benign. One report proposed an association with increased risk for Parkinson's disease, but had very weak statistical significance. A later study found an equal incidence of this variant in cases and controls, contradicting any association with the disease. | 1 |
| 17 | MSH2-G322D | Low | Likely | Likely benign Unknown, Heterozygous | 0.0110615 | Although other variants in this mismatch repair gene are associated with cancer, most publications dismiss this variant as a polymorphism (HapMap allele frequency of 1.6%). | 1 |
| 18 | PMS2-P470S | Low | Likely | Likely benign Unknown, Homozygous | 0.374884 | Benign, common variant. | 1 |
| 19 | PKD1-A4059V | Low | Likely | Likely benign Unknown, Heterozygous | 0.0570413 | Probably benign. | 1 |
| 20 | MLH1-I219V | Low | Uncertain | Uncertain benign Dominant, Homozygous | 0.239822 | Computational evidence, functional assays, and case/control studies suggest this variant is probably benign. | 1 |
| 21 | LOXL1-R141L | Low | Uncertain | Uncertain benign Complex/Other, Heterozygous | 0.255899 | Associated with exfoliative glaucoma & syndrome (XFG & XFS) in various populations, but with contradicting results (protective in Caucasians, pathogenic in Japanese). Based on this it seems the variation itself -- although it affects protein structure -- is not itself causing disease. Instead it is likely associated with other nearby causal variants. As such, it is evaluated as benign by GET-Evidence (which focuses on reporting causal variants). See detailed variant report for disease risk associations. | 1 |
| 22 | TYR-S192Y | Low | Uncertain | Uncertain benign Unknown, Heterozygous | 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 |
| 23 | TPCN2-G734E | Low | Uncertain | Uncertain benign Unknown, Homozygous | 0.286166 | Pigmentation allele. | 1 |
| 24 | GFAP-D295N | Low | Uncertain | Uncertain benign Unknown, Heterozygous | 0.0333767 | Reported as a nonpathogenic polymorphism. | 1 |
| 25 | GAA-D91N | Low | Uncertain | Uncertain benign Recessive, Carrier (Heterozygous) | 0.0237033 | This is a rare but non-pathogenic coding polymorphism in GAA that creates variant allozyme, known as GAA*2. | 1 |
| 26 | NOTCH3-P496L | Low | Uncertain | Uncertain benign Unknown, Heterozygous | 0.015625 | Presumed benign, seen in two healthy PGP participants. | 1 |
| 27 | 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 |
| 28 | APOB-Y1422C | Low | Uncertain | Uncertain benign Unknown, Homozygous | 0.999628 | This position is almost certainly an error in the HG18 reference sequence. | 1 |
| 29 | PKP2-L366P | Low | Uncertain | Uncertain benign Unknown, Heterozygous | 0.221231 | This variant is a benign polymorphism. | 1 |
| 30 | PCSK9-G670E | Low | Uncertain | Uncertain benign Unknown, Homozygous | 0.888269 | This variant is likely benign. | 1 |
| 31 | PTCH1-P1315L | Low | Uncertain | Uncertain benign Unknown, Heterozygous | 0.29631 | Common polymorphism, presumed benign. | 1 |
| 32 | RAPSN-R58C | Low | Uncertain | Uncertain benign Unknown, Heterozygous | 0.0778026 | Reported as non-pathogenic polymorphism. | 1 |
| 33 | TAS2R38-I296V | Low | Uncertain | Uncertain benign Unknown, Homozygous | 0.463376 | This variant is associated with "taster" status of PTC, along with 49P and 262A. Due to linkage disequilibrium, the independent effects of positions 296 and 262 is unclear. The presence of 49P confers taster status in a dominant fashion, but in the absence of 49P, the presence of 262A/296V is still positively associated with tasting PTC. | 1 |
| 34 | RP1-N985Y | Low | Uncertain | Uncertain benign Unknown, Heterozygous | 0.348671 | Probably benign. One report linked this variant to high triglycerides, but a later paper found a nearby SNP with similar association and suggests that both findings are caused by linkage to an undiscovered causal variant. | 1 |
| 35 | TAS2R38-A49P | Low | Uncertain | Uncertain benign Unknown, Homozygous | 0.431121 | This variant is strongly associated with causing the "taster" phenotype of phenylthiocarbamine (PTC) in a dominant manner. | 1 |
| Row number | Variant | Prioritization score | Allele freq | Num of articles | Zygosity and Prioritization Score Reasons | Sufficient |
|---|
Exome coverage: 32931493 / 33282720 = 98.94%
| Row number | Gene | Chromosome | Coverage | Missing | Length | Missing regions |
|---|---|---|---|---|---|---|
| 1 | AGRN | 1 | 0.96985988921473 | 185 | 6138 | 955574-955575, 955579, 955592, 955595, 955630, 955663-955683, 976229, 981968-981971, 981981-981983, 983607, 983610-983745, 986671-986683 |
| 2 | GABRD | 1 | 0.99337748344371 | 9 | 1359 | 1950868-1950873, 1950911, 1950916-1950917 |
| 3 | ESPN | 1 | 0.8588693957115 | 362 | 2565 | 6488286-6488307, 6488378-6488392, 6488426-6488432, 6500385-6500409, 6500449-6500488, 6500709-6500715, 6500753-6500791, 6500830-6500868, 6501097-6501103, 6505732-6505738, 6505779, 6505795, 6505817, 6505850-6505862, 6505888-6505920, 6508727-6508766, 6509033-6509056, 6511907-6511933, 6512127-6512133, 6517286-6517292 |
| 4 | PLEKHG5 | 1 | 0.98494825964252 | 48 | 3189 | 6534128, 6534165, 6534172, 6534175-6534181, 6534221-6534224, 6534518-6534521, 6534530-6534531, 6534542-6534569 |
| 5 | KIF1B | 1 | 0.99943534726143 | 3 | 5313 | 10425584-10425586 |
| 6 | TARDBP | 1 | 0.97991967871486 | 25 | 1245 | 11082339-11082362, 11082530 |
| 7 | CLCNKA | 1 | 0.98643410852713 | 28 | 2064 | 16349191-16349197, 16358268-16358274, 16358308-16358314, 16360141-16360147 |
| 8 | CLCNKB | 1 | 0.97577519379845 | 50 | 2064 | 16373044-16373085, 16383398-16383405 |
| 9 | ATP13A2 | 1 | 0.99435506632797 | 20 | 3543 | 17313604, 17322589-17322592, 17322601-17322608, 17322611-17322617 |
| 10 | HSPG2 | 1 | 0.99521857923497 | 63 | 13176 | 22263648-22263710 |
| 11 | WNT4 | 1 | 0.92424242424242 | 80 | 1056 | 22447969-22447971, 22469339-22469415 |
| 12 | SEPN1 | 1 | 0.89028776978417 | 183 | 1668 | 26126722-26126904 |
| 13 | PPT1 | 1 | 0.99891422366992 | 1 | 921 | 40562819 |
| 14 | STIL | 1 | 0.98939746573571 | 41 | 3867 | 47753252-47753264, 47765795-47765822 |
| 15 | CPT2 | 1 | 0.99544764795144 | 9 | 1977 | 53675851-53675858, 53676934 |
| 16 | PCSK9 | 1 | 0.997113997114 | 6 | 2079 | 55505553-55505558 |
| 17 | ALG6 | 1 | 0.98692810457516 | 20 | 1530 | 63885046, 63885062, 63885067-63885080, 63885091-63885094 |
| 18 | LEPR | 1 | 0.99885648942253 | 4 | 3498 | 66038127, 66083687, 66083696, 66083827 |
| 19 | CTH | 1 | 0.98029556650246 | 24 | 1218 | 70883626-70883645, 70896007-70896010 |
| 20 | GLMN | 1 | 0.99607843137255 | 7 | 1785 | 92732284-92732287, 92732296-92732298 |
| 21 | DPYD | 1 | 0.98148148148148 | 57 | 3078 | 97847949-97847989, 97848005-97848017, 98144654, 98144715, 98144723 |
| 22 | AGL | 1 | 0.9997825614264 | 1 | 4599 | 100336327 |
| 23 | DBT | 1 | 0.97929606625259 | 30 | 1449 | 100701009, 100701013-100701041 |
| 24 | COL11A1 | 1 | 0.97507788161994 | 136 | 5457 | 103364222, 103364234-103364326, 103388932, 103388935-103388937, 103427792-103427793, 103427819, 103435775-103435808, 103435821 |
| 25 | GSTM1 | 1 | 0.91476407914764 | 56 | 657 | 110230839, 110231670-110231691, 110235885-110235917 |
| 26 | AMPD1 | 1 | 0.99866310160428 | 3 | 2244 | 115223097-115223099 |
| 27 | HSD3B2 | 1 | 0.99374441465594 | 7 | 1119 | 119965218-119965224 |
| 28 | NOTCH2 | 1 | 0.97802049622438 | 163 | 7416 | 120539665-120539714, 120539739-120539745, 120539778-120539784, 120539913-120539939, 120547962-120547968, 120548025, 120548030, 120548051, 120548055, 120548091-120548097, 120572544-120572575, 120611960, 120612000-120612020 |
| 29 | FLG | 1 | 0.99622517643197 | 46 | 12186 | 152276668-152276674, 152278434, 152279406, 152279848, 152279889-152279895, 152280861-152280867, 152281350-152281356, 152281911, 152284447-152284453, 152285116-152285122 |
| 30 | CHRNB2 | 1 | 0.99668654738237 | 5 | 1509 | 154544372-154544376 |
| 31 | GBA | 1 | 0.98830409356725 | 14 | 1197 | 155184413-155184419, 155186652-155186658 |
| 32 | NTRK1 | 1 | 0.99832705980761 | 4 | 2391 | 156830727-156830730 |
| 33 | TBX19 | 1 | 0.9992576095026 | 1 | 1347 | 168274318 |
| 34 | F5 | 1 | 0.99295880149813 | 47 | 6675 | 169510290-169510296, 169510325-169510344, 169510460-169510472, 169510521-169510527 |
| 35 | SERPINC1 | 1 | 0.99784946236559 | 3 | 1395 | 173879017-173879019 |
| 36 | RNASEL | 1 | 0.99326145552561 | 15 | 2226 | 182545496-182545510 |
| 37 | HMCN1 | 1 | 0.99893541518808 | 18 | 16908 | 185902905-185902912, 185947035-185947037, 186022102-186022103, 186147823-186147824, 186147830-186147831, 186147834 |
| 38 | PDC | 1 | 0.97975708502024 | 15 | 741 | 186418534, 186418544-186418551, 186418554, 186418557-186418561 |
| 39 | CFH | 1 | 0.98160173160173 | 68 | 3696 | 196658636-196658640, 196658721, 196705954-196705955, 196706630, 196706694, 196712582-196712589, 196715005-196715011, 196716353-196716395 |
| 40 | CFHR1 | 1 | 0.99597180261833 | 4 | 993 | 196794762, 196797292, 196801042, 196801078 |
| 41 | CFHR5 | 1 | 0.98011695906433 | 34 | 1710 | 196953091-196953112, 196953123-196953125, 196967300-196967302, 196967305-196967306, 196967311-196967312, 196967350, 196967433 |
| 42 | ASPM | 1 | 0.9989457542649 | 11 | 10434 | 197069679-197069681, 197069704-197069706, 197113194, 197113202-197113205 |
| 43 | CACNA1S | 1 | 0.99768765563856 | 13 | 5622 | 201013545-201013557 |
| 44 | USH2A | 1 | 0.99794990069832 | 32 | 15609 | 215916573-215916577, 215916593-215916618, 216369916 |
| 45 | GJC2 | 1 | 0.9780303030303 | 29 | 1320 | 228345613-228345619, 228345687, 228345828, 228346388-228346392, 228346398, 228346414, 228346419, 228346422-228346426, 228346450, 228346475, 228346478-228346480, 228346609, 228346614 |
| 46 | ACTA1 | 1 | 0.99911816578483 | 1 | 1134 | 229567275 |
| 47 | LYST | 1 | 0.99772049798352 | 26 | 11406 | 235866144-235866145, 235875357, 235875484-235875485, 235875490-235875493, 235897825, 235944221-235944225, 235944288, 235944318, 235944347, 235950542, 235967839-235967843, 235967927, 235971925 |
| 48 | MTR | 1 | 0.99789362822538 | 8 | 3798 | 237024565-237024572 |
| 49 | RYR2 | 1 | 0.99953032742888 | 7 | 14904 | 237821252-237821253, 237821262, 237821315, 237838079, 237881770, 237881819 |
| 50 | FH | 1 | 0.99869536855838 | 2 | 1533 | 241661155-241661156 |
| 51 | CUBN | 10 | 0.99972406181015 | 3 | 10872 | 17085922, 17142037, 17142045 |
| 52 | MYO3A | 10 | 0.99958771387343 | 2 | 4851 | 26385497-26385498 |
| 53 | PDSS1 | 10 | 0.98958333333333 | 13 | 1248 | 26994238-26994241, 26994286-26994290, 26994315-26994318 |
| 54 | RET | 10 | 0.99970104633782 | 1 | 3345 | 43572749 |
| 55 | CHAT | 10 | 0.93146417445483 | 154 | 2247 | 50822265-50822298, 50822304, 50822309-50822315, 50822334-50822428, 50830144-50830160 |
| 56 | PCDH15 | 10 | 0.99541518084564 | 27 | 5889 | 55826563-55826567, 55826577, 55826581, 56138648-56138651, 56138659-56138663, 56138667-56138668, 56138694-56138702 |
| 57 | CDH23 | 10 | 0.99970167064439 | 3 | 10056 | 73567291-73567293 |
| 58 | PSAP | 10 | 0.99936507936508 | 1 | 1575 | 73579577 |
| 59 | BMPR1A | 10 | 0.99562226391495 | 7 | 1599 | 88683143-88683149 |
| 60 | GLUD1 | 10 | 0.99582587954681 | 7 | 1677 | 88836362-88836368 |
| 61 | PTEN | 10 | 0.99752475247525 | 3 | 1212 | 89725227-89725229 |
| 62 | PLCE1 | 10 | 0.99898682877406 | 7 | 6909 | 96025697-96025703 |
| 63 | HPS6 | 10 | 0.99828178694158 | 4 | 2328 | 103827016, 103827019-103827020, 103827025 |
| 64 | SUFU | 10 | 0.99931271477663 | 1 | 1455 | 104264007 |
| 65 | EMX2 | 10 | 0.99736495388669 | 2 | 759 | 119302966-119302967 |
| 66 | HTRA1 | 10 | 0.98613998613999 | 20 | 1443 | 124221169-124221182, 124221198-124221200, 124221336, 124221375, 124221387 |
| 67 | SLC25A22 | 11 | 0.99691358024691 | 3 | 972 | 792641, 792650-792651 |
| 68 | TH | 11 | 0.99809523809524 | 3 | 1575 | 2191924, 2191929, 2191934 |
| 69 | KCNQ1 | 11 | 0.99901526341704 | 2 | 2031 | 2609943-2609944 |
| 70 | CDKN1C | 11 | 0.87802313354364 | 116 | 951 | 2905936-2905937, 2905940-2905945, 2905949, 2905952-2905956, 2905968-2905969, 2905973, 2906082-2906084, 2906091-2906100, 2906114-2906120, 2906124-2906128, 2906139-2906153, 2906159-2906166, 2906174, 2906181-2906191, 2906212, 2906215-2906218, 2906221-2906226, 2906229-2906241, 2906245-2906254, 2906329, 2906440-2906442, 2906448 |
| 71 | USH1C | 11 | 0.99185185185185 | 22 | 2700 | 17531111-17531113, 17531205-17531215, 17531282, 17531296, 17531310-17531315 |
| 72 | ANO5 | 11 | 0.97775346462436 | 61 | 2742 | 22277008-22277068 |
| 73 | PDHX | 11 | 0.98539176626826 | 22 | 1506 | 34991726, 34991729-34991743, 34991746, 34991776-34991780 |
| 74 | RAG1 | 11 | 0.99968071519796 | 1 | 3132 | 36594871 |
| 75 | SLC35C1 | 11 | 0.99905303030303 | 1 | 1056 | 45827805 |
| 76 | MADD | 11 | 0.9993932038835 | 3 | 4944 | 47331114-47331116 |
| 77 | MYBPC3 | 11 | 0.99660130718954 | 13 | 3825 | 47367855-47367867 |
| 78 | BSCL2 | 11 | 0.99928005759539 | 1 | 1389 | 62472929 |
| 79 | SLC22A12 | 11 | 0.99939831528279 | 1 | 1662 | 64367290 |
| 80 | BBS1 | 11 | 0.9983164983165 | 3 | 1782 | 66299433-66299435 |
| 81 | SPTBN2 | 11 | 0.9998605883173 | 1 | 7173 | 66463753 |
| 82 | AIP | 11 | 0.99798590130916 | 2 | 993 | 67257559, 67257562 |
| 83 | LRP5 | 11 | 0.99855610561056 | 7 | 4848 | 68080197, 68080201, 68080217-68080219, 68080229-68080230 |
| 84 | MYO7A | 11 | 0.99744283995187 | 17 | 6648 | 76912531-76912546, 76922280 |
| 85 | DYNC2H1 | 11 | 0.97759752800309 | 290 | 12945 | 102984290-102984291, 102984300-102984303, 102984313-102984329, 102984345, 102991490-102991496, 102999673-102999684, 103006637, 103018555, 103024074, 103029421-103029455, 103029471-103029497, 103031696-103031707, 103031730-103031757, 103036712, 103036758-103036761, 103043811-103043836, 103043919, 103043935, 103043991, 103044029, 103044034, 103047152, 103049820, 103059226-103059235, 103059245-103059248, 103059252-103059266, 103059288-103059309, 103059319-103059325, 103059367-103059368, 103062893, 103062934, 103070096, 103070145, 103070171, 103070174, 103082538, 103082547-103082552, 103082620-103082621, 103082630, 103082647, 103106420-103106427, 103194660-103194678 |
| 86 | ATM | 11 | 0.98964126049504 | 95 | 9171 | 108098596, 108098605-108098608, 108115684-108115691, 108126983-108127024, 108127031-108127035, 108127042, 108127046-108127048, 108127050-108127055, 108127059-108127067, 108160492-108160495, 108196113-108196115, 108196130, 108196144-108196148, 108196153, 108196170, 108196184 |
| 87 | RDX | 11 | 0.99543378995434 | 8 | 1752 | 110126082-110126089 |
| 88 | DLAT | 11 | 0.98405349794239 | 31 | 1944 | 111909982-111910012 |
| 89 | WNK1 | 12 | 0.99930060148272 | 5 | 7149 | 995060-995064 |
| 90 | CACNA1C | 12 | 0.99786617893614 | 14 | 6561 | 2794934-2794940, 2794974-2794980 |
| 91 | VWF | 12 | 0.98009950248756 | 168 | 8442 | 6122647-6122650, 6125338-6125344, 6125722-6125728, 6127532-6127538, 6127637-6127661, 6127726-6127732, 6127782-6127788, 6127865-6127871, 6127943, 6128064-6128079, 6128167-6128173, 6128339-6128357, 6128443, 6128449-6128451, 6128784-6128790, 6131925-6131932, 6131955-6131982, 6132027-6132033 |
| 92 | ATN1 | 12 | 0.9840470193115 | 57 | 3573 | 7045606-7045607, 7045888-7045942 |
| 93 | GYS2 | 12 | 0.98200757575758 | 38 | 2112 | 21712025-21712062 |
| 94 | ABCC9 | 12 | 0.98795698924731 | 56 | 4650 | 21962866-21962868, 21962872, 21962888-21962889, 21998550-21998552, 22063805-22063838, 22063851-22063857, 22065995-22066000 |
| 95 | KRAS | 12 | 0.99824561403509 | 1 | 570 | 25378642 |
| 96 | DNM1L | 12 | 0.99864314789688 | 3 | 2211 | 32866196, 32866203, 32866261 |
| 97 | PKP2 | 12 | 0.99960222752586 | 1 | 2514 | 33049665 |
| 98 | KIF21A | 12 | 0.99338146811071 | 33 | 4986 | 39703490, 39761766-39761797 |
| 99 | LRRK2 | 12 | 0.98338607594937 | 126 | 7584 | 40645127-40645131, 40671731, 40671735-40671741, 40671755-40671758, 40742252-40742254, 40742258-40742264, 40761446-40761465, 40761471-40761549 |
| 100 | IRAK4 | 12 | 0.99493853940709 | 7 | 1383 | 44166716-44166722 |
| 101 | MLL2 | 12 | 0.99578668592753 | 70 | 16614 | 49426657, 49426668-49426681, 49427320, 49427661-49427699, 49440494-49440503, 49440507-49440511 |
| 102 | KRT81 | 12 | 0.98353096179183 | 25 | 1518 | 52682999-52683005, 52684011-52684028 |
| 103 | KRT86 | 12 | 0.98288843258042 | 25 | 1461 | 52696926-52696943, 52697949-52697955 |
| 104 | KRT83 | 12 | 0.99460188933873 | 8 | 1482 | 52713086-52713093 |
| 105 | KRT6B | 12 | 0.93805309734513 | 105 | 1695 | 52843632-52843637, 52844380-52844403, 52845365-52845371, 52845432-52845438, 52845545-52845577, 52845777-52845804 |
| 106 | KRT6C | 12 | 0.9693215339233 | 52 | 1695 | 52865295-52865300, 52867024-52867030, 52867091-52867108, 52867230-52867236, 52867372-52867378, 52867457-52867463 |
| 107 | KRT6A | 12 | 0.9834808259587 | 28 | 1695 | 52884732-52884737, 52886553-52886559, 52886681-52886687, 52886908-52886915 |
| 108 | KRT5 | 12 | 0.99830795262267 | 3 | 1773 | 52908832-52908834 |
| 109 | KRT1 | 12 | 0.99328165374677 | 13 | 1935 | 53072488, 53072505-53072513, 53072517-53072519 |
| 110 | GNS | 12 | 0.99457504520796 | 9 | 1659 | 65153016-65153024 |
| 111 | LEMD3 | 12 | 0.98209064327485 | 49 | 2736 | 65612332-65612347, 65612357-65612370, 65612381-65612399 |
| 112 | CEP290 | 12 | 0.95940860215054 | 302 | 7440 | 88454607-88454608, 88454614, 88454648-88454651, 88462313-88462314, 88462325, 88462334-88462353, 88462363-88462366, 88474145, 88476881, 88476885-88476889, 88478517, 88481677-88481686, 88505488-88505498, 88505526-88505615, 88505633, 88513957, 88513968-88513971, 88513984-88513988, 88514022-88514023, 88519023-88519080, 88519090-88519092, 88519098-88519104, 88519112-88519125, 88519139-88519145, 88522723-88522734, 88522775-88522802, 88523475, 88534765-88534770 |
| 113 | SLC17A8 | 12 | 0.99830508474576 | 3 | 1770 | 100797882-100797884 |
| 114 | ATXN2 | 12 | 0.95180111618468 | 190 | 3942 | 111902488-111902489, 111902504-111902507, 112036718-112036724, 112036733-112036776, 112036779, 112036782-112036794, 112036797-112036802, 112036805, 112036818-112036822, 112036827, 112036925-112036970, 112036985-112036986, 112036994-112037000, 112037006-112037010, 112037013, 112037024-112037061, 112037133-112037139 |
| 115 | HNF1A | 12 | 0.9957805907173 | 8 | 1896 | 121434363-121434369, 121434378 |
| 116 | SACS | 13 | 0.99992721979622 | 1 | 13740 | 23908620 |
| 117 | CENPJ | 13 | 0.99850634802091 | 6 | 4017 | 25480462-25480467 |
| 118 | BRCA2 | 13 | 0.99814760651263 | 19 | 10257 | 32900262, 32920974-32920991 |
| 119 | SUCLA2 | 13 | 0.9992816091954 | 1 | 1392 | 48542825 |
| 120 | RB1 | 13 | 0.99210620739146 | 22 | 2787 | 48934153-48934159, 48934201, 48941634, 48941667-48941670, 48941673, 48941724, 49051522-49051525, 49051538-49051540 |
| 121 | ZIC2 | 13 | 0.97310819262039 | 43 | 1599 | 100637716, 100637746, 100637749, 100637753, 100637775, 100637810, 100637834-100637870 |
| 122 | PCCA | 13 | 0.98216735253772 | 39 | 2187 | 100764095-100764129, 100764141-100764142, 100915051, 100915061 |
| 123 | ERCC5 | 13 | 0.99386647794291 | 26 | 4239 | 103468811-103468835, 103468849 |
| 124 | F10 | 13 | 0.99045671438309 | 14 | 1467 | 113777177-113777190 |
| 125 | GRK1 | 13 | 0.99586288416076 | 7 | 1692 | 114434228-114434234 |
| 126 | TEP1 | 14 | 0.99987316083206 | 1 | 7884 | 20846266 |
| 127 | PABPN1 | 14 | 0.76330076004343 | 218 | 921 | 23790679-23790705, 23790719-23790736, 23790774, 23790785-23790826, 23790867-23790875, 23790885-23791000, 23791025-23791029 |
| 128 | MYH6 | 14 | 0.99965635738832 | 2 | 5820 | 23869544-23869545 |
| 129 | FOXG1 | 14 | 0.80680272108844 | 284 | 1470 | 29236555-29236562, 29236674-29236949 |
| 130 | NKX2-1 | 14 | 0.99004975124378 | 12 | 1206 | 36986898, 36988373-36988379, 36988383-36988386 |
| 131 | FANCM | 14 | 0.98535871156662 | 90 | 6147 | 45623913, 45623925, 45623938-45623941, 45623946-45623947, 45623964-45623968, 45623978-45624014, 45624022-45624025, 45624576-45624595, 45628299-45628301, 45650692, 45650867, 45653026-45653035, 45667849 |
| 132 | SYNE2 | 14 | 0.9988419224088 | 24 | 20724 | 64447704-64447706, 64457677-64457681, 64457778-64457786, 64518318-64518319, 64556352-64556356 |
| 133 | ZFYVE26 | 14 | 0.99868766404199 | 10 | 7620 | 68241770-68241771, 68244315-68244316, 68244319, 68274200, 68274207-68274208, 68274213-68274214 |
| 134 | PSEN1 | 14 | 0.997150997151 | 4 | 1404 | 73683838-73683841 |
| 135 | POMT2 | 14 | 0.99866844207723 | 3 | 2253 | 77743729-77743731 |
| 136 | GALC | 14 | 0.98979591836735 | 21 | 2058 | 88448550-88448569, 88448583 |
| 137 | SPATA7 | 14 | 0.96055555555556 | 71 | 1800 | 88859755-88859796, 88859804-88859832 |
| 138 | TTC8 | 14 | 0.96705426356589 | 51 | 1548 | 89305827-89305866, 89327568-89327571, 89327583, 89327622, 89327625, 89327673-89327676 |
| 139 | ATXN3 | 14 | 0.96593001841621 | 37 | 1086 | 92537347, 92537355-92537357, 92559596-92559619, 92559646-92559654 |
| 140 | VRK1 | 14 | 0.9823677581864 | 21 | 1191 | 97304107-97304111, 97304121-97304136 |
| 141 | INF2 | 14 | 0.91333333333333 | 325 | 3750 | 105173856-105174126, 105174140-105174193 |
| 142 | NIPA1 | 15 | 0.82020202020202 | 178 | 990 | 23086234-23086411 |
| 143 | UBE3A | 15 | 0.97945205479452 | 54 | 2628 | 25616251-25616257, 25616358-25616397, 25616620-25616626 |
| 144 | SPRED1 | 15 | 0.99101123595506 | 12 | 1335 | 38614478-38614489 |
| 145 | CHST14 | 15 | 0.99381078691424 | 7 | 1131 | 40763419, 40763441, 40763462, 40763521-40763524 |
| 146 | STRC | 15 | 0.98611111111111 | 74 | 5328 | 43896303-43896312, 43897536-43897560, 43900149-43900156, 43906240-43906251, 43907745-43907751, 43910436-43910444, 43910867-43910869 |
| 147 | STRC | 15 | 0.99641025641026 | 7 | 1950 | 44007207-44007213 |
| 148 | SPG11 | 15 | 0.99972722313148 | 2 | 7332 | 44912581-44912582 |
| 149 | DUOX2 | 15 | 0.99483537766301 | 24 | 4647 | 45399050-45399073 |
| 150 | SLC12A1 | 15 | 0.98272727272727 | 57 | 3300 | 48527126-48527173, 48577377, 48577381-48577388 |
| 151 | FBN1 | 15 | 0.99825905292479 | 15 | 8616 | 48773907, 48773910, 48784694, 48784702-48784713 |
| 152 | CEP152 | 15 | 0.99617321248741 | 19 | 4965 | 49036529, 49044624-49044640, 49073538 |
| 153 | SCG3 | 15 | 0.99786780383795 | 3 | 1407 | 51974725, 51974730-51974731 |
| 154 | HCN4 | 15 | 0.99889258028793 | 4 | 3612 | 73614927-73614928, 73616164, 73660367 |
| 155 | RPS17 | 15 | 0.93627450980392 | 26 | 408 | 82823368-82823393 |
| 156 | RPS17 | 15 | 0.93627450980392 | 26 | 408 | 83207711-83207736 |
| 157 | POLG | 15 | 0.99193548387097 | 30 | 3720 | 89876825-89876838, 89876849-89876864 |
| 158 | MESP2 | 15 | 0.97989949748744 | 24 | 1194 | 90320121-90320144 |
| 159 | BLM | 15 | 0.97602256699577 | 102 | 4254 | 91337397-91337403, 91337426-91337455, 91337465-91337521, 91337540-91337544, 91337556, 91337561, 91337578 |
| 160 | HBZ | 16 | 0.94405594405594 | 24 | 429 | 203952-203975 |
| 161 | HBM | 16 | 0.97417840375587 | 11 | 426 | 216299-216309 |
| 162 | GFER | 16 | 0.99029126213592 | 6 | 618 | 2034352-2034357 |
| 163 | PKD1 | 16 | 0.94516728624535 | 708 | 12912 | 2141035, 2141055, 2147191-2147196, 2147914-2147920, 2147946-2147981, 2149862-2149879, 2149962-2149968, 2150046-2150072, 2150567, 2152086-2152092, 2152249-2152257, 2152387-2152388, 2152605-2152623, 2152922-2152952, 2153366-2153394, 2153441-2153447, 2153721-2153727, 2153764-2153770, 2153820-2153826, 2153848-2153874, 2154534-2154576, 2155423-2155429, 2155878, 2156120-2156126, 2156241-2156247, 2156399-2156404, 2156427-2156450, 2156607-2156613, 2156899-2156941, 2159077-2159102, 2159402-2159408, 2159577-2159584, 2159712-2159718, 2159792-2159798, 2159993-2159999, 2160134-2160140, 2160679-2160690, 2162917-2162919, 2164172-2164178, 2164351-2164357, 2164403-2164409, 2164803-2164812, 2166880-2166886, 2167632-2167638, 2167871-2167878, 2167980-2168001, 2168056-2168075, 2168141-2168173, 2168206-2168212, 2168231-2168271, 2168341, 2185560-2185569, 2185589-2185595, 2185662-2185690 |
| 164 | CREBBP | 16 | 0.99849911311229 | 11 | 7329 | 3779360-3779370 |
| 165 | GLIS2 | 16 | 0.99746031746032 | 4 | 1575 | 4387050-4387052, 4387055 |
| 166 | ALG1 | 16 | 0.93333333333333 | 93 | 1395 | 5128836-5128855, 5130959-5130999, 5131028-5131052, 5132600-5132606 |
| 167 | ABCC6 | 16 | 0.98803191489362 | 54 | 4512 | 16306056-16306084, 16313509-16313515, 16315579-16315595, 16315671 |
| 168 | OTOA | 16 | 0.99590643274854 | 14 | 3420 | 21747697, 21752056-21752068 |
| 169 | OTOA | 16 | 0.98694779116466 | 13 | 996 | 22568178-22568190 |
| 170 | CLN3 | 16 | 0.99316628701595 | 9 | 1317 | 28497673-28497674, 28497682, 28497686-28497691 |
| 171 | PHKG2 | 16 | 0.95495495495495 | 55 | 1221 | 30760144-30760159, 30760165, 30760169-30760193, 30760198-30760202, 30760213-30760219, 30760227 |
| 172 | SALL1 | 16 | 0.99723270440252 | 11 | 3975 | 51175653-51175663 |
| 173 | RPGRIP1L | 16 | 0.9967071935157 | 13 | 3948 | 53672228-53672232, 53672243, 53672278, 53672310, 53679755-53679759 |
| 174 | CETP | 16 | 0.99730094466937 | 4 | 1482 | 57017520-57017523 |
| 175 | HSD11B2 | 16 | 0.98522167487685 | 18 | 1218 | 67465168, 67465206-67465212, 67465220, 67465225-67465227, 67465274-67465275, 67469997-67470000 |
| 176 | LCAT | 16 | 0.99924414210128 | 1 | 1323 | 67977011 |
| 177 | HP | 16 | 0.999180999181 | 1 | 1221 | 72091295 |
| 178 | GCSH | 16 | 0.99808429118774 | 1 | 522 | 81116504 |
| 179 | MLYCD | 16 | 0.9919028340081 | 12 | 1482 | 83932809-83932811, 83932815-83932816, 83932991, 83932994, 83933091-83933093, 83933096, 83933099 |
| 180 | FOXF1 | 16 | 0.99561403508772 | 5 | 1140 | 86544223, 86544238-86544241 |
| 181 | GALNS | 16 | 0.9955385595921 | 7 | 1569 | 88923221-88923222, 88923232-88923236 |
| 182 | SPG7 | 16 | 0.99790619765494 | 5 | 2388 | 89579415-89579418, 89579421 |
| 183 | ASPA | 17 | 0.99893842887473 | 1 | 942 | 3385083 |
| 184 | PITPNM3 | 17 | 0.99589743589744 | 12 | 2925 | 6358766-6358767, 6358787, 6358791, 6358796-6358799, 6387054-6387057 |
| 185 | ELAC2 | 17 | 0.99959693671906 | 1 | 2481 | 12896189 |
| 186 | COX10 | 17 | 0.98948948948949 | 14 | 1332 | 14095306-14095312, 14095345-14095351 |
| 187 | RAI1 | 17 | 0.99790246460409 | 12 | 5721 | 17697094-17697102, 17712715-17712717 |
| 188 | MYO15A | 17 | 0.99877277447371 | 13 | 10593 | 18024041-18024043, 18049333-18049335, 18057181-18057183, 18057193-18057196 |
| 189 | UNC119 | 17 | 0.96542185338866 | 25 | 723 | 26879430-26879437, 26879447-26879461, 26879495, 26879498 |
| 190 | NF1 | 17 | 0.99330985915493 | 57 | 8520 | 29422328-29422341, 29422347, 29422350, 29422382-29422383, 29548872, 29548923-29548947, 29557942-29557943, 29586065-29586066, 29586072, 29586075-29586080, 29586089, 29664865 |
| 191 | KRT10 | 17 | 0.93846153846154 | 108 | 1755 | 38975205-38975261, 38975279-38975281, 38975287, 38975291-38975295, 38975303-38975307, 38975313-38975317, 38975328, 38978763-38978793 |
| 192 | KRT14 | 17 | 0.95419309372798 | 65 | 1419 | 39739540-39739547, 39741304-39741309, 39742829-39742872, 39743011-39743017 |
| 193 | KRT16 | 17 | 0.94796061884669 | 74 | 1422 | 39766265-39766281, 39768412-39768418, 39768490-39768496, 39768658-39768664, 39768724-39768759 |
| 194 | KRT17 | 17 | 0.9838337182448 | 21 | 1299 | 39780378-39780384, 39780516-39780522, 39780705-39780711 |
| 195 | STAT5B | 17 | 0.99450084602369 | 13 | 2364 | 40371359-40371371 |
| 196 | WNK4 | 17 | 0.9989281886388 | 4 | 3732 | 40947167-40947170 |
| 197 | SOST | 17 | 0.98753894080997 | 8 | 642 | 41832889-41832890, 41832924-41832929 |
| 198 | SLC4A1 | 17 | 0.99963450292398 | 1 | 2736 | 42335092 |
| 199 | PLEKHM1 | 17 | 0.99968464206875 | 1 | 3171 | 43555372 |
| 200 | MAPT | 17 | 0.999141999142 | 2 | 2331 | 44067244-44067245 |
| 201 | BRIP1 | 17 | 0.9896 | 39 | 3750 | 59793312-59793313, 59793319-59793344, 59793349-59793353, 59793401-59793406 |
| 202 | ACE | 17 | 0.99897985207855 | 4 | 3921 | 61554483-61554484, 61554493, 61554496 |
| 203 | POLG2 | 17 | 0.99588477366255 | 6 | 1458 | 62476442-62476445, 62476472, 62476503 |
| 204 | AXIN2 | 17 | 0.99960505529226 | 1 | 2532 | 63554545 |
| 205 | SOX9 | 17 | 0.99803921568627 | 3 | 1530 | 70120314-70120316 |
| 206 | ITGB4 | 17 | 0.99981715121594 | 1 | 5469 | 73726989 |
| 207 | SEPT9 | 17 | 0.92277115275412 | 136 | 1761 | 75494605-75494740 |
| 208 | SGSH | 17 | 0.99337309476474 | 10 | 1509 | 78188881-78188890 |
| 209 | FSCN2 | 17 | 0.9972954699121 | 4 | 1479 | 79503957-79503960 |
| 210 | AFG3L2 | 18 | 0.99958228905597 | 1 | 2394 | 12377046 |
| 211 | NPC1 | 18 | 0.99687255668491 | 12 | 3837 | 21137138-21137149 |
| 212 | LAMA3 | 18 | 0.999600079984 | 4 | 10002 | 21269657, 21269660, 21269690-21269691 |
| 213 | DSC3 | 18 | 0.99219620958751 | 21 | 2691 | 28581591, 28622604-28622623 |
| 214 | DSC2 | 18 | 0.99963045084996 | 1 | 2706 | 28659929 |
| 215 | MYO5B | 18 | 0.99332972778078 | 37 | 5547 | 47352944-47352980 |
| 216 | TNFRSF11A | 18 | 0.98325229605619 | 31 | 1851 | 59992586-59992616 |
| 217 | CTDP1 | 18 | 0.9996534996535 | 1 | 2886 | 77474871 |
| 218 | ELANE | 19 | 0.9228855721393 | 62 | 804 | 853270, 853274, 853279, 853283-853341 |
| 219 | KISS1R | 19 | 0.99415204678363 | 7 | 1197 | 920307-920310, 920347, 920350, 920670 |
| 220 | MAP2K2 | 19 | 0.92352452202826 | 92 | 1203 | 4123781-4123872 |
| 221 | INSR | 19 | 0.99879489033502 | 5 | 4149 | 7184494-7184495, 7184498-7184499, 7293898 |
| 222 | MCOLN1 | 19 | 0.99885255306942 | 2 | 1743 | 7598505-7598506 |
| 223 | PRKCSH | 19 | 0.99810964083176 | 3 | 1587 | 11558341-11558343 |
| 224 | CACNA1A | 19 | 0.98657093471613 | 101 | 7521 | 13318669-13318716, 13318778, 13318786, 13318790-13318796, 13318800, 13318803, 13318819, 13318822, 13318833-13318867, 13319692-13319694, 13325146-13325147 |
| 225 | NOTCH3 | 19 | 0.98880275624462 | 78 | 6966 | 15281313-15281316, 15281321-15281324, 15311632-15311701 |
| 226 | CYP4F22 | 19 | 0.98872180451128 | 18 | 1596 | 15636308-15636325 |
| 227 | COMP | 19 | 0.99956024626209 | 1 | 2274 | 18900754 |
| 228 | CEBPA | 19 | 0.98421541318477 | 17 | 1077 | 33792857-33792867, 33793008-33793010, 33793171, 33793203, 33793240 |
| 229 | SCN1B | 19 | 0.95043370508055 | 40 | 807 | 35521725-35521764 |
| 230 | RYR1 | 19 | 0.99715552027519 | 43 | 15117 | 38931416, 39055769, 39055788-39055789, 39055826, 39055877, 39055909-39055945 |
| 231 | PRX | 19 | 0.98928408572731 | 47 | 4386 | 40899942, 40901323-40901328, 40909683-40909685, 40909695-40909699, 40909711, 40909729-40909739, 40909750-40909769 |
| 232 | BCAM | 19 | 0.99841017488076 | 3 | 1887 | 45312419, 45324078-45324079 |
| 233 | ERCC2 | 19 | 0.99956197985107 | 1 | 2283 | 45867032 |
| 234 | DMPK | 19 | 0.9968253968254 | 6 | 1890 | 46285589-46285592, 46285595, 46285602 |
| 235 | DBP | 19 | 0.99284253578732 | 7 | 978 | 49138843-49138848, 49138982 |
| 236 | MED25 | 19 | 0.99955436720143 | 1 | 2244 | 50339530 |
| 237 | KCNC3 | 19 | 0.86895338610378 | 298 | 2274 | 50823503-50823572, 50823583-50823588, 50826347, 50826413, 50826441, 50826445-50826455, 50826459, 50831524-50831525, 50831528, 50831577-50831590, 50831934-50831965, 50832021, 50832183-50832339 |
| 238 | NLRP12 | 19 | 0.99717514124294 | 9 | 3186 | 54313591, 54313618-54313625 |
| 239 | PRKCG | 19 | 0.99522445081184 | 10 | 2094 | 54393142-54393145, 54393208-54393213 |
| 240 | KLF11 | 2 | 0.99870045484081 | 2 | 1539 | 10183876-10183877 |
| 241 | LPIN1 | 2 | 0.99962588851478 | 1 | 2673 | 11922571 |
| 242 | OTOF | 2 | 0.98498498498498 | 90 | 5994 | 26693550-26693577, 26699759-26699813, 26699816, 26699838-26699840, 26699846-26699847, 26700116 |
| 243 | ALK | 2 | 0.99917746247173 | 4 | 4863 | 29451750-29451751, 29451755-29451756 |
| 244 | SPAST | 2 | 0.94003241491086 | 111 | 1851 | 32289037, 32289085, 32289126-32289129, 32289138-32289229, 32289234-32289238, 32312561-32312562, 32340805, 32341188, 32366980-32366983 |
| 245 | CYP1B1 | 2 | 0.99877450980392 | 2 | 1632 | 38302435-38302436 |
| 246 | SOS1 | 2 | 0.99075462268866 | 37 | 4002 | 39214632-39214643, 39224078, 39224527-39224547, 39281915, 39281919, 39285945 |
| 247 | MSH2 | 2 | 0.99893048128342 | 3 | 2805 | 47639602, 47710011-47710012 |
| 248 | MSH6 | 2 | 0.99975508204751 | 1 | 4083 | 48010442 |
| 249 | EFEMP1 | 2 | 0.99392712550607 | 9 | 1482 | 56094209, 56094215-56094219, 56102087, 56102124-56102125 |
| 250 | ALMS1 | 2 | 0.99800063979527 | 25 | 12504 | 73612998, 73613023-73613024, 73613027-73613047, 73828342 |
| 251 | REEP1 | 2 | 0.96039603960396 | 24 | 606 | 86564602-86564615, 86564624-86564633 |
| 252 | EIF2AK3 | 2 | 0.99820948970457 | 6 | 3351 | 88857419, 88887621-88887622, 88926730-88926732 |
| 253 | TMEM127 | 2 | 0.99581589958159 | 3 | 717 | 96919781-96919783 |
| 254 | RANBP2 | 2 | 0.91958656330749 | 778 | 9675 | 109345588-109345589, 109347317-109347341, 109352023-109352055, 109352099-109352118, 109352606-109352612, 109357110-109357116, 109363251-109363254, 109365423-109365429, 109367720-109367732, 109367831-109367847, 109368046-109368080, 109368104-109368110, 109368334-109368341, 109368430-109368450, 109369932, 109369966, 109370389, 109370398, 109371385-109371402, 109371526-109371536, 109371632-109371633, 109371656-109371688, 109374869-109374872, 109374901-109374918, 109374949-109374955, 109378582-109378598, 109378650-109378651, 109382635-109382641, 109382748-109382754, 109382786-109382793, 109382840-109382846, 109382889-109382896, 109382918-109382946, 109382986-109383003, 109383051-109383090, 109383142-109383148, 109383204-109383232, 109383268-109383274, 109383315-109383321, 109383354-109383362, 109383635-109383682, 109383768-109383808, 109383822-109383828, 109383885-109383910, 109384004-109384013, 109384164-109384170, 109384285-109384291, 109384403-109384409, 109384452-109384472, 109384505-109384511, 109384542-109384567, 109384597-109384615, 109384628-109384667, 109384782-109384788 |
| 255 | MERTK | 2 | 0.999 | 3 | 3000 | 112656329, 112760685, 112760738 |
| 256 | GLI2 | 2 | 0.99621928166352 | 18 | 4761 | 121729606-121729622, 121746164 |
| 257 | RAB3GAP1 | 2 | 0.99253224711473 | 22 | 2946 | 135848577-135848597, 135891536 |
| 258 | ZEB2 | 2 | 0.9997256515775 | 1 | 3645 | 145154089 |
| 259 | MMADHC | 2 | 0.98316498316498 | 15 | 891 | 150426634-150426640, 150438698-150438705 |
| 260 | NEB | 2 | 0.99759687593872 | 48 | 19974 | 152421565, 152432725-152432728, 152432737-152432740, 152432746, 152432752-152432787, 152432793, 152511786 |
| 261 | SCN2A | 2 | 0.99052841475573 | 57 | 6018 | 166152343, 166170464-166170471, 166172038-166172045, 166221765-166221773, 166234110-166234137, 166237633, 166237646-166237647 |
| 262 | SCN1A | 2 | 0.99966649991662 | 2 | 5997 | 166866296, 166903294 |
| 263 | SCN9A | 2 | 0.99983147960903 | 1 | 5934 | 167089909 |
| 264 | CHN1 | 2 | 0.99927536231884 | 1 | 1380 | 175816897 |
| 265 | HOXD13 | 2 | 0.99903100775194 | 1 | 1032 | 176957822 |
| 266 | AGPS | 2 | 0.95194739504299 | 95 | 1977 | 178333168, 178333215-178333217, 178333244-178333248, 178346787-178346789, 178346798-178346806, 178346819-178346823, 178346830-178346836, 178346855-178346895, 178346901, 178346906-178346911, 178346914, 178362472-178362475, 178362478-178362486 |
| 267 | DFNB59 | 2 | 0.99622285174693 | 4 | 1059 | 179318146-179318149 |
| 268 | TTN | 2 | 0.99958103902322 | 42 | 100248 | 179444768-179444772, 179534946, 179534949-179534950, 179559568-179559580, 179561848-179561849, 179598578-179598580, 179646964-179646977, 179665141-179665142 |
| 269 | CERKL | 2 | 0.99124452782989 | 14 | 1599 | 182438549-182438562 |
| 270 | COL3A1 | 2 | 0.99000227221086 | 44 | 4401 | 189856910-189856928, 189856935-189856944, 189871670-189871676, 189871696-189871698, 189871711-189871714, 189872664 |
| 271 | COL5A2 | 2 | 0.99955555555556 | 2 | 4500 | 189916933, 189931508 |
| 272 | PMS1 | 2 | 0.97534833869239 | 69 | 2799 | 190656553, 190718674-190718679, 190718689-190718692, 190718705, 190718735, 190718753-190718808 |
| 273 | STAT1 | 2 | 0.99955614735908 | 1 | 2253 | 191859900 |
| 274 | HSPD1 | 2 | 0.98954703832753 | 18 | 1722 | 198351826-198351843 |
| 275 | CASP8 | 2 | 0.99938157081014 | 1 | 1617 | 202149629 |
| 276 | ALS2 | 2 | 0.99959790912746 | 2 | 4974 | 202574652-202574653 |
| 277 | BMPR2 | 2 | 0.99615014436959 | 12 | 3117 | 203384810-203384817, 203384826-203384829 |
| 278 | ABCA12 | 2 | 0.99974319465845 | 2 | 7788 | 215854176, 215854179 |
| 279 | PNKD | 2 | 0.99740932642487 | 3 | 1158 | 219204595-219204597 |
| 280 | OBSL1 | 2 | 0.99947285187138 | 3 | 5691 | 220435661-220435663 |
| 281 | COL4A3 | 2 | 0.99700777977259 | 15 | 5013 | 228163423-228163426, 228163445-228163448, 228163457-228163463 |
| 282 | UGT1A1 | 2 | 0.99750312109863 | 4 | 1602 | 234668951-234668954 |
| 283 | C20orf54 | 20 | 0.99858156028369 | 2 | 1410 | 744356-744357 |
| 284 | AVP | 20 | 0.93535353535354 | 32 | 495 | 3063340, 3063623, 3063644-3063672, 3063798 |
| 285 | C20orf7 | 20 | 0.99229287090559 | 8 | 1038 | 13782136, 13782139, 13782212-13782217 |
| 286 | SNTA1 | 20 | 0.99538866930171 | 7 | 1518 | 32031383, 32031409-32031411, 32031423-32031425 |
| 287 | CTSA | 20 | 0.99131596526386 | 13 | 1497 | 44520219-44520221, 44520233-44520236, 44520238-44520240, 44520244-44520246 |
| 288 | CD40 | 20 | 0.99760191846523 | 2 | 834 | 44756969-44756970 |
| 289 | DPM1 | 20 | 0.99744572158365 | 2 | 783 | 49571821-49571822 |
| 290 | KCNQ2 | 20 | 0.99656357388316 | 9 | 2619 | 62038615-62038623 |
| 291 | SOX18 | 20 | 0.69004329004329 | 358 | 1155 | 62680512-62680869 |
| 292 | BACH1 | 21 | 0.99638172772501 | 8 | 2211 | 30715033-30715040 |
| 293 | IFNGR2 | 21 | 0.93195266272189 | 69 | 1014 | 34775850-34775918 |
| 294 | CLDN14 | 21 | 0.99861111111111 | 1 | 720 | 37833813 |
| 295 | AIRE | 21 | 0.98778998778999 | 20 | 1638 | 45712972, 45712975-45712977, 45712995, 45713000-45713002, 45713013-45713024 |
| 296 | ITGB2 | 21 | 0.9969696969697 | 7 | 2310 | 46308653, 46308664-46308668, 46308679 |
| 297 | COL18A1 | 21 | 0.99867046533713 | 7 | 5265 | 46875491-46875497 |
| 298 | COL6A1 | 21 | 0.99902818270165 | 3 | 3087 | 47410191, 47410306-47410307 |
| 299 | FTCD | 21 | 0.99876998769988 | 2 | 1626 | 47565754, 47565763 |
| 300 | PCNT | 21 | 0.99840175806613 | 16 | 10011 | 47819538-47819544, 47832898-47832906 |
| 301 | PRODH | 22 | 0.99944536882973 | 1 | 1803 | 18923745 |
| 302 | TBX1 | 22 | 0.88373655913978 | 173 | 1488 | 19748428-19748599, 19753512 |
| 303 | CHEK2 | 22 | 0.94378194207836 | 99 | 1761 | 29083910-29083917, 29083946-29083965, 29085135-29085171, 29090101-29090105, 29091139-29091160, 29091173-29091179 |
| 304 | NF2 | 22 | 0.99944071588367 | 1 | 1788 | 30074309 |
| 305 | SLC5A1 | 22 | 0.99949874686717 | 1 | 1995 | 32495224 |
| 306 | MYH9 | 22 | 0.99694033656298 | 18 | 5883 | 36688075-36688078, 36688101-36688104, 36690210-36690219 |
| 307 | TRIOBP | 22 | 0.95759368836292 | 301 | 7098 | 38119745, 38119749-38119757, 38119763, 38119766-38119767, 38119771, 38119798-38119804, 38119856-38119862, 38119879-38119921, 38119976-38120009, 38120030-38120078, 38120153, 38120176-38120178, 38120270-38120303, 38120320-38120346, 38120394-38120432, 38120444-38120486 |
| 308 | SOX10 | 22 | 0.99928622412562 | 1 | 1401 | 38369935 |
| 309 | PLA2G6 | 22 | 0.99958694754234 | 1 | 2421 | 38531021 |
| 310 | TNFRSF13C | 22 | 0.98378378378378 | 9 | 555 | 42322243, 42322246, 42322299-42322301, 42322320-42322323 |
| 311 | NAGA | 22 | 0.98543689320388 | 18 | 1236 | 42463888-42463905 |
| 312 | CYB5R3 | 22 | 0.98344370860927 | 15 | 906 | 43045305-43045319 |
| 313 | MLC1 | 22 | 0.97354497354497 | 30 | 1134 | 50502589-50502618 |
| 314 | SCO2 | 22 | 0.99875156054931 | 1 | 801 | 50962686 |
| 315 | TYMP | 22 | 0.99102829537612 | 13 | 1449 | 50964469-50964474, 50964505, 50964518-50964520, 50964715-50964716, 50964722 |
| 316 | SHANK3 | 22 | 0.87623951182304 | 649 | 5244 | 51113070-51113132, 51135956-51136143, 51158747-51158763, 51158773-51158828, 51158838-51158935, 51158948-51158954, 51158963-51158968, 51158979, 51158992, 51158995-51158998, 51159020-51159023, 51159046-51159050, 51159060-51159079, 51159109, 51159145-51159176, 51159191-51159205, 51160786-51160802, 51169340, 51169534-51169553, 51169561-51169590, 51169606-51169647, 51169676, 51169683-51169693, 51169712-51169720 |
| 317 | SUMF1 | 3 | 0.99822222222222 | 2 | 1125 | 4458824, 4458862 |
| 318 | FANCD2 | 3 | 0.99479166666667 | 23 | 4416 | 10085533-10085539, 10107165-10107171, 10114941-10114949 |
| 319 | XPC | 3 | 0.99964576691463 | 1 | 2823 | 14187449 |
| 320 | SCN5A | 3 | 0.99864153506538 | 8 | 5889 | 38592925-38592931, 38629003 |
| 321 | ABHD5 | 3 | 0.99904761904762 | 1 | 1050 | 43756439 |
| 322 | COL7A1 | 3 | 0.99988681380872 | 1 | 8835 | 48627123 |
| 323 | RFT1 | 3 | 0.99938499384994 | 1 | 1626 | 53156423 |
| 324 | FLNB | 3 | 0.99935971315149 | 5 | 7809 | 58062875-58062876, 58062887-58062889 |
| 325 | ATXN7 | 3 | 0.89570119802678 | 296 | 2838 | 63898281-63898330, 63898333, 63898342-63898343, 63898357-63898599 |
| 326 | GBE1 | 3 | 0.96491228070175 | 74 | 2109 | 81754657-81754658, 81754668-81754732, 81754749-81754755 |
| 327 | CHMP2B | 3 | 0.99844236760125 | 1 | 642 | 87299102 |
| 328 | PROS1 | 3 | 0.99606105366814 | 8 | 2031 | 93595994-93595999, 93596015, 93615438 |
| 329 | ARL6 | 3 | 0.99643493761141 | 2 | 561 | 97503799, 97503811 |
| 330 | IQCB1 | 3 | 0.99499165275459 | 9 | 1797 | 121526193-121526195, 121526204, 121547798-121547802 |
| 331 | CASR | 3 | 0.99969107198023 | 1 | 3237 | 122003530 |
| 332 | ATP2C1 | 3 | 0.99684210526316 | 9 | 2850 | 130678177-130678185 |
| 333 | NPHP3 | 3 | 0.96493864262459 | 140 | 3993 | 132418214, 132423197, 132438549-132438674, 132441030-132441039, 132441110-132441111 |
| 334 | FOXL2 | 3 | 0.93987621573828 | 68 | 1131 | 138664815-138664846, 138664859-138664894 |
| 335 | PLOD2 | 3 | 0.97408871321915 | 59 | 2277 | 145799525-145799526, 145804623-145804626, 145804630, 145804634-145804685 |
| 336 | HPS3 | 3 | 0.99966832504146 | 1 | 3015 | 148875156 |
| 337 | IFT80 | 3 | 0.9995704467354 | 1 | 2328 | 160021769 |
| 338 | PDCD10 | 3 | 0.99843505477308 | 1 | 639 | 167405056 |
| 339 | SLC2A2 | 3 | 0.99619047619048 | 6 | 1575 | 170716883-170716888 |
| 340 | PLD1 | 3 | 0.99627906976744 | 12 | 3225 | 171360655-171360666 |
| 341 | SOX2 | 3 | 0.99895178197065 | 1 | 954 | 181430227 |
| 342 | OPA1 | 3 | 0.99803149606299 | 6 | 3048 | 193354987-193354988, 193355006, 193355047-193355049 |
| 343 | IDUA | 4 | 0.99898063200815 | 2 | 1962 | 980971, 996635 |
| 344 | FGFR3 | 4 | 0.9979398434281 | 5 | 2427 | 1808917-1808918, 1808973, 1808976-1808977 |
| 345 | SH3BP2 | 4 | 0.9983844911147 | 3 | 1857 | 2820103-2820105 |
| 346 | HTT | 4 | 0.99215187188461 | 74 | 9429 | 3076604-3076606, 3076616-3076670, 3076672, 3076678, 3076683-3076684, 3076692, 3105585, 3213821-3213829, 3213832 |
| 347 | DOK7 | 4 | 0.99405940594059 | 9 | 1515 | 3465271-3465275, 3494574, 3494577-3494579 |
| 348 | DOK7 | 4 | 0.99323181049069 | 4 | 591 | 3494574, 3494577-3494579 |
| 349 | EVC | 4 | 0.99462907015777 | 16 | 2979 | 5754629-5754644 |
| 350 | PROM1 | 4 | 0.99615088529638 | 10 | 2598 | 15972696-15972705 |
| 351 | CNGA1 | 4 | 0.97280701754386 | 62 | 2280 | 47954600-47954617, 47954627, 47954633-47954641, 47954659, 47954662-47954666, 47972920, 47972930, 47972938, 47972981, 47972995-47973013, 47973024-47973028 |
| 352 | SGCB | 4 | 0.99895506792059 | 1 | 957 | 52895875 |
| 353 | SLC4A4 | 4 | 0.99817351598174 | 6 | 3285 | 72306485, 72352665, 72352685, 72352733-72352735 |
| 354 | PKD2 | 4 | 0.99484004127967 | 15 | 2907 | 88928940-88928946, 88929000, 88973252-88973258 |
| 355 | SNCA | 4 | 0.94089834515366 | 25 | 423 | 90743497-90743504, 90749294-90749298, 90749307-90749312, 90749323, 90749335, 90756705-90756708 |
| 356 | CISD2 | 4 | 0.92647058823529 | 30 | 408 | 103808512-103808522, 103808569-103808587 |
| 357 | CFI | 4 | 0.99429223744292 | 10 | 1752 | 110723089, 110723095-110723103 |
| 358 | ANK2 | 4 | 0.99983156476335 | 2 | 11874 | 114213648-114213649 |
| 359 | BBS7 | 4 | 0.92132216014898 | 169 | 2148 | 122766660-122766675, 122775859-122775975, 122782693, 122782705, 122782739, 122782751-122782752, 122782804-122782834 |
| 360 | FGB | 4 | 0.99932249322493 | 1 | 1476 | 155484284 |
| 361 | FGA | 4 | 0.99346405228758 | 17 | 2601 | 155507590, 155507938-155507953 |
| 362 | GLRB | 4 | 0.95180722891566 | 72 | 1494 | 158041708, 158041711-158041781 |
| 363 | ETFDH | 4 | 0.99946062567422 | 1 | 1854 | 159616708 |
| 364 | GK | 4 | 0.94163658243081 | 97 | 1662 | 166199234-166199270, 166199515, 166200038-166200096 |
| 365 | SDHA | 5 | 0.95538847117794 | 89 | 1995 | 223682-223683, 233592-233598, 236673-236681, 251107-251114, 251143-251149, 251500-251506, 254571-254612, 256469-256475 |
| 366 | SLC6A19 | 5 | 0.99422572178478 | 11 | 1905 | 1216996-1217006 |
| 367 | TERT | 5 | 0.99205648720212 | 27 | 3399 | 1280368-1280372, 1295036-1295038, 1295060-1295077, 1295081 |
| 368 | SLC6A3 | 5 | 0.99785292538916 | 4 | 1863 | 1414880-1414883 |
| 369 | SDHA | 5 | 0.95718654434251 | 14 | 327 | 1593261-1593267, 1593383-1593389 |
| 370 | DNAH5 | 5 | 0.99531531531532 | 65 | 13875 | 13916457-13916521 |
| 371 | FAM134B | 5 | 0.98192771084337 | 27 | 1494 | 16479039-16479052, 16479077-16479089 |
| 372 | NIPBL | 5 | 0.96494355317885 | 295 | 8415 | 36962273-36962278, 36962290-36962291, 36972080-36972081, 37006547, 37014818-37014826, 37022491, 37036481-37036589, 37048604-37048735, 37048745-37048777 |
| 373 | LIFR | 5 | 0.97176684881603 | 93 | 3294 | 38482700-38482769, 38490339, 38490342, 38490360-38490363, 38490391-38490393, 38506020, 38506025-38506026, 38506051-38506054, 38506064, 38506082, 38506085-38506087, 38506092, 38506114 |
| 374 | OXCT1 | 5 | 0.98528470889315 | 23 | 1563 | 41862744-41862757, 41862769-41862775, 41862840, 41862848 |
| 375 | GHR | 5 | 0.99947835159103 | 1 | 1917 | 42718969 |
| 376 | NDUFAF2 | 5 | 0.9843137254902 | 8 | 510 | 60448653, 60448658-60448659, 60448667-60448671 |
| 377 | MARVELD2 | 5 | 0.99045915324985 | 16 | 1677 | 68736312-68736327 |
| 378 | SMN2 | 5 | 0.96045197740113 | 35 | 885 | 69362945-69362961, 69366569-69366578, 69372358-69372365 |
| 379 | SMN2 | 5 | 0.96949152542373 | 27 | 885 | 70238369-70238385, 70241994-70242003 |
| 380 | AP3B1 | 5 | 0.99421613394216 | 19 | 3285 | 77311241, 77412010, 77412053-77412054, 77425022, 77458703, 77458714-77458715, 77563394, 77563410-77563419 |
| 381 | RASA1 | 5 | 0.95865139949109 | 130 | 3144 | 86633791-86633820, 86669983, 86670039-86670137 |
| 382 | MEF2C | 5 | 0.9803094233474 | 28 | 1422 | 88024310-88024312, 88024371-88024378, 88024388-88024401, 88024412, 88024441-88024442 |
| 383 | GPR98 | 5 | 0.99667036625971 | 63 | 18921 | 89933605, 89940523-89940527, 89971969-89971985, 89972026, 90020920, 90049456, 90049566-90049567, 90144497, 90144507-90144508, 90144532-90144540, 90144548-90144570 |
| 384 | WDR36 | 5 | 0.99789915966387 | 6 | 2856 | 110436401-110436403, 110439955, 110448773-110448774 |
| 385 | APC | 5 | 0.99917955930614 | 7 | 8532 | 112102941-112102943, 112103041, 112103057, 112103063, 112111326 |
| 386 | HSD17B4 | 5 | 0.99954771596563 | 1 | 2211 | 118835080 |
| 387 | FBN2 | 5 | 0.99645268337338 | 31 | 8739 | 127597454, 127597457, 127597460, 127641605-127641614, 127702072-127702077, 127702088-127702094, 127702106-127702110 |
| 388 | TGFBI | 5 | 0.9995126705653 | 1 | 2052 | 135364878 |
| 389 | MYOT | 5 | 0.99799599198397 | 3 | 1497 | 137221803, 137221859, 137221900 |
| 390 | MATR3 | 5 | 0.99921383647799 | 2 | 2544 | 138643122, 138658531 |
| 391 | NDUFA2 | 5 | 0.99666666666667 | 1 | 300 | 140027148 |
| 392 | DIAPH1 | 5 | 0.99554857292485 | 17 | 3819 | 140953374-140953384, 140953564-140953569 |
| 393 | GRM6 | 5 | 0.99430523917995 | 15 | 2634 | 178421917-178421927, 178421940-178421943 |
| 394 | FLT4 | 5 | 0.99902248289345 | 4 | 4092 | 180076523-180076526 |
| 395 | FOXC1 | 6 | 0.99819494584838 | 3 | 1662 | 1612018-1612020 |
| 396 | TUBB2B | 6 | 0.99402092675635 | 8 | 1338 | 3225179, 3225569-3225575 |
| 397 | DSP | 6 | 0.99849117920149 | 13 | 8616 | 7585635-7585647 |
| 398 | ATXN1 | 6 | 0.98447712418301 | 38 | 2448 | 16327862-16327865, 16327870, 16327891, 16327894-16327903, 16327906, 16327909, 16327912, 16327915-16327918, 16327921-16327927, 16327938-16327945 |
| 399 | HLA-H | 6 | 0.892 | 81 | 750 | 29855996-29856001, 29856244-29856248, 29856350-29856371, 29856386-29856392, 29856421-29856442, 29856456-29856474 |
| 400 | TNXB | 6 | 0.92223950233281 | 150 | 1929 | 31976896-31976929, 31977164-31977170, 31977388-31977394, 31977498-31977516, 31977785-31977793, 31977994-31978002, 31978498-31978528, 31978782-31978815 |
| 401 | CYP21A2 | 6 | 0.95430107526882 | 68 | 1488 | 32006211-32006248, 32006337, 32007404-32007410, 32008195-32008201, 32008893-32008907 |
| 402 | TNXB | 6 | 0.99206536255794 | 101 | 12729 | 32009648-32009664, 32009898-32009905, 32010123-32010129, 32010279-32010314, 32010518-32010527, 32010728-32010736, 32011235, 32015757-32015758, 32021355-32021365 |
| 403 | HLA-DQA1 | 6 | 0.90234375 | 75 | 768 | 32609094, 32609098-32609099, 32609112-32609117, 32609126-32609130, 32609139-32609153, 32609169, 32609181, 32609195, 32609251-32609257, 32609271, 32609299, 32609965, 32610387-32610407, 32610461, 32610478, 32610481, 32610487, 32610495, 32610517-32610520, 32610535-32610537 |
| 404 | HLA-DQB1 | 6 | 0.67302798982188 | 257 | 786 | 32629124-32629173, 32629193-32629194, 32629199, 32629224-32629234, 32629764, 32629859, 32629955, 32632575-32632663, 32632687-32632688, 32632693-32632694, 32632700-32632757, 32632769-32632770, 32632775, 32632781-32632782, 32632795, 32632820-32632821, 32632832, 32632836-32632837, 32634350-32634373, 32634381-32634384 |
| 405 | SYNGAP1 | 6 | 0.94171626984127 | 235 | 4032 | 33388042-33388108, 33393591-33393627, 33393636-33393638, 33393642-33393650, 33393666-33393669, 33393680, 33411509, 33411513-33411516, 33411532-33411538, 33411542, 33411547-33411596, 33411618-33411668 |
| 406 | FANCE | 6 | 0.99813780260708 | 3 | 1611 | 35420370-35420371, 35420398 |
| 407 | MOCS1 | 6 | 0.99947671376243 | 1 | 1911 | 39874705 |
| 408 | PRPH2 | 6 | 0.99807877041306 | 2 | 1041 | 42672125, 42672129 |
| 409 | CD2AP | 6 | 0.97760416666667 | 43 | 1920 | 47501472-47501491, 47544808-47544830 |
| 410 | MUT | 6 | 0.97913892587661 | 47 | 2253 | 49409553-49409588, 49409597-49409599, 49409684, 49423794, 49423844, 49423882-49423884, 49423902, 49423938 |
| 411 | PKHD1 | 6 | 0.99869120654397 | 16 | 12225 | 51611527-51611534, 51712744-51712751 |
| 412 | EYS | 6 | 0.98579756226815 | 134 | 9435 | 64940572, 64940575-64940580, 65098596, 65098607, 65098613, 65098638-65098643, 65523313-65523360, 65523381-65523390, 65596595, 65596607-65596609, 65596635, 65596726-65596727, 66005888, 66063372-66063373, 66063424, 66063427, 66094294-66094295, 66094298, 66094389-66094390, 66094393, 66200521-66200545, 66200572-66200588 |
| 413 | LMBRD1 | 6 | 0.97905113986445 | 34 | 1623 | 70386152-70386163, 70410714-70410717, 70410728-70410732, 70410761, 70462167-70462178 |
| 414 | COL9A1 | 6 | 0.99566160520607 | 12 | 2766 | 70980033-70980044 |
| 415 | RIMS1 | 6 | 0.98050797401063 | 99 | 5079 | 72960630-72960637, 72974679-72974682, 72974703-72974736, 72974754-72974755, 73108746-73108796 |
| 416 | SLC17A5 | 6 | 0.99932795698925 | 1 | 1488 | 74331681 |
| 417 | LCA5 | 6 | 0.99952244508118 | 1 | 2094 | 80196758 |
| 418 | BCKDHB | 6 | 0.97285835453774 | 32 | 1179 | 80838943-80838946, 80881036, 80881049-80881056, 80881062-80881076, 80982896-80982899 |
| 419 | FIG4 | 6 | 0.9988986784141 | 3 | 2724 | 110081478-110081480 |
| 420 | WISP3 | 6 | 0.99910634495085 | 1 | 1119 | 112389516 |
| 421 | COL10A1 | 6 | 0.99804209495839 | 4 | 2043 | 116442360, 116442370-116442371, 116442397 |
| 422 | GJA1 | 6 | 0.99390774586597 | 7 | 1149 | 121768922-121768928 |
| 423 | LAMA2 | 6 | 0.99989319662501 | 1 | 9363 | 129663611 |
| 424 | ENPP1 | 6 | 0.98632109431245 | 38 | 2778 | 132171184, 132171187-132171190, 132203495-132203497, 132203546-132203575 |
| 425 | PEX7 | 6 | 0.90123456790123 | 96 | 972 | 137167216-137167311 |
| 426 | PEX3 | 6 | 0.99910873440285 | 1 | 1122 | 143792217 |
| 427 | SYNE1 | 6 | 0.99859816624991 | 37 | 26394 | 152532691-152532694, 152542694, 152551766-152551770, 152590290-152590296, 152599378-152599393, 152690157-152690160 |
| 428 | TBP | 6 | 0.94803921568627 | 53 | 1020 | 170871010-170871019, 170871025-170871032, 170871038-170871040, 170871043, 170871046, 170871049, 170871052, 170871062-170871065, 170871068, 170871073, 170871076, 170871079-170871099 |
| 429 | LFNG | 7 | 0.86491228070175 | 154 | 1140 | 2559496-2559566, 2559602-2559609, 2559613-2559614, 2559617, 2559639-2559649, 2559658-2559698, 2559753-2559758, 2559760-2559768, 2559777, 2559820, 2559870, 2559873, 2559879 |
| 430 | PMS2 | 7 | 0.98184627269216 | 47 | 2589 | 6013153, 6026740, 6027153-6027168, 6042264-6042267, 6043623-6043647 |
| 431 | TWIST1 | 7 | 0.78653530377668 | 130 | 609 | 19156793-19156896, 19156909-19156910, 19156913-19156918, 19156927-19156944 |
| 432 | DNAH11 | 7 | 0.99602122015915 | 54 | 13572 | 21630541-21630546, 21630550, 21630567, 21630570-21630603, 21630615-21630619, 21630628-21630631, 21630929-21630930, 21893993 |
| 433 | FAM126A | 7 | 0.99553001277139 | 7 | 1566 | 23000877, 23016960-23016965 |
| 434 | KLHL7 | 7 | 0.99943214082907 | 1 | 1761 | 23212567 |
| 435 | HOXA13 | 7 | 0.93144815766924 | 80 | 1167 | 27239306-27239308, 27239311, 27239335, 27239374-27239377, 27239380, 27239387-27239454, 27239470-27239471 |
| 436 | BBS9 | 7 | 0.97635135135135 | 63 | 2664 | 33303910-33303916, 33303931-33303986 |
| 437 | GLI3 | 7 | 0.99978916297702 | 1 | 4743 | 42005121 |
| 438 | GCK | 7 | 0.99928622412562 | 1 | 1401 | 44186120 |
| 439 | CCM2 | 7 | 0.97752808988764 | 30 | 1335 | 45039933-45039962 |
| 440 | SBDS | 7 | 0.99203187250996 | 6 | 753 | 66453460, 66460277-66460281 |
| 441 | NCF1 | 7 | 0.88121212121212 | 98 | 825 | 72639957-72639989, 72640033-72640039, 72643704-72643723, 72644230-72644236, 72648669-72648699 |
| 442 | ELN | 7 | 0.99264367816092 | 16 | 2175 | 73442541, 73461079-73461091, 73472011-73472012 |
| 443 | NCF1 | 7 | 0.92412617220801 | 89 | 1173 | 74191613-74191614, 74193668, 74197368-74197391, 74202349-74202379, 74203016-74203046 |
| 444 | ABCB4 | 7 | 0.99869791666667 | 5 | 3840 | 87037423-87037427 |
| 445 | AKAP9 | 7 | 0.99795291709314 | 24 | 11724 | 91609611, 91609615, 91609624-91609638, 91609647, 91682087, 91706175-91706178, 91727495 |
| 446 | KRIT1 | 7 | 0.99638172772501 | 8 | 2211 | 91866990-91866991, 91866994, 91867017-91867019, 91867022-91867023 |
| 447 | PEX1 | 7 | 0.99974039460021 | 1 | 3852 | 92126033 |
| 448 | COL1A2 | 7 | 0.9968300414533 | 13 | 4101 | 94027705-94027708, 94049716, 94049728, 94049917-94049923 |
| 449 | SGCE | 7 | 0.99631268436578 | 5 | 1356 | 94252637-94252641 |
| 450 | SLC25A13 | 7 | 0.99606105366814 | 8 | 2031 | 95906544-95906547, 95906561-95906564 |
| 451 | SLC26A5 | 7 | 0.98747203579418 | 28 | 2235 | 103017281-103017308 |
| 452 | RELN | 7 | 0.99884359641515 | 12 | 10377 | 103191711-103191718, 103629800-103629803 |
| 453 | SLC26A4 | 7 | 0.9995731967563 | 1 | 2343 | 107323659 |
| 454 | CFTR | 7 | 0.9484582489309 | 229 | 4443 | 117188713-117188753, 117188760-117188800, 117188840-117188853, 117188874-117188877, 117234984-117235112 |
| 455 | AASS | 7 | 0.99964041711615 | 1 | 2781 | 121769491 |
| 456 | FLNC | 7 | 0.99914404499878 | 7 | 8178 | 128498187-128498193 |
| 457 | ATP6V0A4 | 7 | 0.99682917162109 | 8 | 2523 | 138394375-138394378, 138394384, 138394400, 138394448, 138394452 |
| 458 | BRAF | 7 | 0.99695784441547 | 7 | 2301 | 140507855, 140624404, 140624408, 140624412-140624415 |
| 459 | PRSS1 | 7 | 0.81989247311828 | 134 | 744 | 142458448-142458489, 142459676-142459697, 142460332-142460342, 142460366-142460397, 142460741-142460767 |
| 460 | CNTNAP2 | 7 | 0.99624624624625 | 15 | 3996 | 145813983-145813997 |
| 461 | KCNH2 | 7 | 0.98994252873563 | 35 | 3480 | 150644730, 150648900, 150648908, 150648911-150648913, 150671883-150671886, 150671891-150671894, 150671913, 150671917-150671920, 150671959-150671968, 150674996-150675001 |
| 462 | MNX1 | 7 | 0.86898839137645 | 158 | 1206 | 156799286, 156799289, 156799292-156799294, 156802640-156802786, 156802901-156802904, 156802907-156802908 |
| 463 | TUSC3 | 8 | 0.99235912129895 | 8 | 1047 | 15480650-15480657 |
| 464 | ADAM9 | 8 | 0.99105691056911 | 22 | 2460 | 38880823-38880844 |
| 465 | ANK1 | 8 | 0.99929750614682 | 4 | 5694 | 41530159-41530162 |
| 466 | RP1 | 8 | 0.99984546437954 | 1 | 6471 | 55533942 |
| 467 | CHD7 | 8 | 0.999444073827 | 5 | 8994 | 61734400-61734401, 61734591, 61749461, 61749472 |
| 468 | EYA1 | 8 | 0.99662731871838 | 6 | 1779 | 72234479-72234484 |
| 469 | NBN | 8 | 0.99646799116998 | 8 | 2265 | 90955515-90955522 |
| 470 | TMEM67 | 8 | 0.99029451137885 | 29 | 2988 | 94768057-94768060, 94777653-94777659, 94777813, 94827553, 94828600-94828615 |
| 471 | GDF6 | 8 | 0.99634502923977 | 5 | 1368 | 97157357-97157359, 97157410-97157411 |
| 472 | VPS13B | 8 | 0.98299149574787 | 204 | 11994 | 100123327, 100123366, 100123370-100123390, 100123399-100123458, 100123479-100123504, 100146860-100146873, 100146899-100146910, 100146926, 100287442, 100287462-100287464, 100443888, 100513969, 100513973, 100513989-100514009, 100514013-100514044, 100514054-100514059, 100844597-100844598 |
| 473 | GRHL2 | 8 | 0.99840255591054 | 3 | 1878 | 102631842-102631844 |
| 474 | KCNQ3 | 8 | 0.98969072164948 | 27 | 2619 | 133492748, 133492754-133492779 |
| 475 | TG | 8 | 0.99987961959793 | 1 | 8307 | 133912570 |
| 476 | CYP11B1 | 8 | 0.93187830687831 | 103 | 1512 | 143957128-143957132, 143957195-143957210, 143958288-143958294, 143958490-143958533, 143958572-143958602 |
| 477 | CYP11B2 | 8 | 0.98677248677249 | 20 | 1512 | 143993947, 143993950, 143994768-143994783, 143996539, 143996553 |
| 478 | PLEC | 8 | 0.99807897545358 | 27 | 14055 | 144996241-144996253, 144996260-144996261, 144996533, 145004366-145004370, 145004374-145004379 |
| 479 | KCNV2 | 9 | 0.9993894993895 | 1 | 1638 | 2718995 |
| 480 | GLIS3 | 9 | 0.99964196204798 | 1 | 2793 | 4118028 |
| 481 | JAK2 | 9 | 0.9552809649897 | 152 | 3399 | 5066781-5066789, 5069056-5069069, 5069164, 5077453-5077580 |
| 482 | GLDC | 9 | 0.99608227228208 | 12 | 3063 | 6645369-6645380 |
| 483 | VPS13A | 9 | 0.96965879265092 | 289 | 9525 | 79814861-79814862, 79824387-79824396, 79840846-79840848, 79840869, 79841384-79841389, 79843063-79843064, 79843164-79843169, 79862183, 79890565-79890567, 79890981-79890984, 79890992-79890993, 79891003, 79891072, 79896791-79896799, 79896806-79896827, 79897134-79897165, 79898342, 79898345-79898348, 79898351-79898359, 79898373-79898374, 79910663, 79928945-79928969, 79931182-79931188, 79931197-79931199, 79932523, 79932531-79932565, 79932587-79932614, 79934497-79934499, 79946941, 79946947, 79946968-79946971, 79952326-79952327, 79955153-79955154, 79996904-79996937, 79996972-79996987, 79996997-79997001 |
| 484 | ROR2 | 9 | 0.99223163841808 | 22 | 2832 | 94486022-94486043 |
| 485 | SPTLC1 | 9 | 0.99789029535865 | 3 | 1422 | 94808333-94808335 |
| 486 | PTCH1 | 9 | 0.99884898710866 | 5 | 4344 | 98231118-98231121, 98270643 |
| 487 | FOXE1 | 9 | 0.98930481283422 | 12 | 1122 | 100616701-100616712 |
| 488 | TGFBR1 | 9 | 0.9973544973545 | 4 | 1512 | 101867558-101867561 |
| 489 | LMX1B | 9 | 0.99195710455764 | 9 | 1119 | 129458202-129458205, 129458209-129458213 |
| 490 | SETX | 9 | 0.99962658700523 | 3 | 8034 | 135139892-135139893, 135139897 |
| 491 | TSC1 | 9 | 0.99628040057225 | 13 | 3495 | 135771988-135772000 |
| 492 | CEL | 9 | 0.83135182738882 | 383 | 2271 | 135944521-135944528, 135944582-135944589, 135945985-135946018, 135946387-135946393, 135946684-135946971, 135946980-135946982, 135947002-135947034, 135947042, 135947049 |
| 493 | ADAMTS13 | 9 | 0.99883286647993 | 5 | 4284 | 136289480, 136293822-136293825 |
| 494 | DBH | 9 | 0.99029126213592 | 18 | 1854 | 136523485-136523502 |
| 495 | COL5A1 | 9 | 0.99220590900852 | 43 | 5517 | 137534079-137534121 |
| 496 | LHX3 | 9 | 0.99255583126551 | 9 | 1209 | 139090801-139090804, 139090894, 139090901-139090902, 139090905, 139094874 |
| 497 | INPP5E | 9 | 0.99328165374677 | 13 | 1935 | 139333325-139333334, 139333343-139333345 |
| 498 | NOTCH1 | 9 | 0.9990871152843 | 7 | 7668 | 139400141-139400147 |
| 499 | AGPAT2 | 9 | 0.9426523297491 | 48 | 837 | 139581741-139581788 |
| 500 | SLC34A3 | 9 | 0.99944444444444 | 1 | 1800 | 140128129 |
| 501 | EHMT1 | 9 | 0.99512445470875 | 19 | 3897 | 140605440-140605443, 140605446-140605460 |
| 502 | FANCB | X | 0.99883720930233 | 3 | 2580 | 14877304-14877306 |
| 503 | RPS6KA3 | X | 0.99910031488979 | 2 | 2223 | 20179878-20179879 |
| 504 | RPGR | X | 0.98612315698179 | 48 | 3459 | 38145389, 38145414-38145416, 38145430-38145434, 38145437-38145443, 38145525-38145530, 38145550-38145554, 38145564-38145575, 38145604-38145606, 38145618, 38145621-38145622, 38145645-38145647 |
| 505 | WAS | X | 0.99668654738237 | 5 | 1509 | 48547224-48547228 |
| 506 | AR | X | 0.98479913137894 | 42 | 2763 | 66765169-66765197, 66765200-66765205, 66766386-66766392 |
| 507 | TAF1 | X | 0.9839845124956 | 91 | 5682 | 70586165-70586248, 70586258-70586264 |
| 508 | BRWD3 | X | 0.99408393418377 | 32 | 5409 | 79991510-79991515, 79991584-79991587, 80064949-80064970 |
| 509 | CHM | X | 0.99898063200815 | 2 | 1962 | 85282532-85282533 |
| 510 | SLC6A8 | X | 0.9622641509434 | 72 | 1908 | 152954113-152954119, 152954131-152954137, 152954143, 152954146-152954161, 152954164, 152954169-152954173, 152954194-152954228 |
| 511 | ABCD1 | X | 0.99374441465594 | 14 | 2238 | 153008473-153008486 |
| 512 | MECP2 | X | 0.9625918503674 | 56 | 1497 | 153363061-153363068, 153363073, 153363076-153363122 |
| 513 | IKBKG | X | 0.99931693989071 | 1 | 1464 | 153788681 |
| 514 | USP9Y | Y | 0.9990871152843 | 7 | 7668 | 14847603, 14898560-14898565 |
| Effect rank | Variant | Phase/ Zygosity | Allele freq | Impact | Evaluation | Summary / Info |
|---|---|---|---|---|---|---|
| 3 | TGFB1-T263I | het unknown | 0.031 | Dominant protective | Low clinical importance, uncertain | Carriers may be less likely to have cleft lip and palate congenital deformity. |
| 3 | TGFB1-P10L | het unknown | 1.000 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 2.5 | C3-P314L | het unknown | 0.079 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.159 (benign), Testable gene in GeneTests with associated GeneReview |
| 2.5 | C3-R102G | het unknown | 0.053 | Complex/Other pathogenic | Moderate clinical importance, likely | This variant (also called C3F) is common in Europeans (10.2% allele frequency), and is associated with age-related macular degeneration. In the US, 1.5% of adults over 40 have the disease, but the incidence increases strongly with age (>15% in women over 80). Assuming an average lifetime risk of ~10%, heterozygous individuals have a ~13% risk and homozygous have ~20%. |
| 2.5 | 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 | homozygous | 0.822 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 2.5 | SP110-E207K | het unknown | 0.087 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 2.5 | SP110-A128V | het unknown | 0.078 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 2.5 | 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 | HTRA2-A141S | het unknown | Unknown pathogenic | Insufficiently evaluated | Prioritization score: 5 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview | |
| 2.5 | AGRP-A67T | het unknown | 0.032 | Unknown pathogenic | Insufficiently evaluated | Prioritization score: 4 Polyphen 2: 0.857 (probably damaging) |
| 2.5 | HABP2-G534E | het unknown | Unknown pathogenic | Insufficiently evaluated | Prioritization score: 5 Polyphen 2: 1.0 (probably damaging), 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 | ADD1-G460W | homozygous | 0.232 | Unknown pathogenic | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: 0.995 (probably damaging) |
| 2 | ADD1-S617C | homozygous | 0.334 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 2 | CST3-A25T | het unknown | Unknown pathogenic | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: Unknown | |
| 2 | CILP-G1166S | homozygous | 0.766 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 2 | CILP-Q979R | homozygous | 0.986 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 2 | CILP-K575E | homozygous | 0.974 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 2 | CILP-I395T | homozygous | 0.491 | Unknown pathogenic | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown |
| 2 | NEFL-S472Shift | homozygous | Unknown | Insufficiently evaluated | Prioritization score: 4 Frameshift, Testable gene in GeneTests with associated GeneReview | |
| 2 | SLC9A3R1-L110V | het unknown | 0.010 | Unknown pathogenic | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.006 (benign) |
| 2 | CHRNA5-D398N | homozygous | 0.158 | Unknown pathogenic | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.003 (benign) |
| 1.5 | 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 |
| 1.5 | NPC1-M642I | homozygous | 0.863 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 1.5 | NPC1-H215R | homozygous | 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). |
| 1.5 | LOXL1-R141L | het unknown | Unknown pharmacogenetic | Insufficiently evaluated | Prioritization score: 4 Polyphen 2: 0.998 (probably damaging) | |
| 1.5 | LOXL1-G153D | het unknown | 0.269 | Unknown pharmacogenetic | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.135 (benign) |
| 1.5 | KCNJ11-V337I | homozygous | 0.761 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 1.5 | KCNJ11-K23E | homozygous | 0.711 | Unknown protective | Low clinical importance, likely | This variant is associated with decreased risk of type 2 diabetes. It is unclear whether this variant has additive effects, or acts in a dominant or recessive manner. Assuming diabetes has a lifetime risk of 36%, we estimate a decreased risk of around 1-2% per copy of this variant. |
| 1.5 | IL23R-Q3H | het unknown | 0.501 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: 0.001 (benign) |
| 1.5 | IL23R-L310P | homozygous | 0.884 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 1.5 | IL23R-R381Q | het unknown | 0.029 | Unknown pharmacogenetic | Insufficiently evaluated | Prioritization score: 4 Polyphen 2: 0.997 (probably damaging) |
| 1.25 | RNASEL-D541E | het unknown | 0.470 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: Unknown, Testable gene in GeneTests |
| 1.25 | RNASEL-R462Q | het unknown | 0.208 | Complex/Other pathogenic | Low clinical importance, uncertain | Associated with increased risk of prostate cancer in individuals who already have a family history of prostate cancer, but studies have been unable to replicate this finding in sporadic (non-familial) prostate cancer cases. |
| 1.25 | 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 | LRP5-A1330V | het unknown | 0.120 | Complex/Other pathogenic | Low clinical importance, uncertain | In a study of a UK population this variant was associated with a small increased risk of osteoporosis and osteoporotic bone fractures, with each copy of the variant presumed to have an additive effect. A study in Chinese young men failed to find an association with peak bone density. |
| 1.125 | GUCY2D-W21R | het unknown | Unknown benign | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.033 (benign), Testable gene in GeneTests with associated GeneReview | |
| 1.125 | GUCY2D-P701S | het unknown | 0.096 | Recessive pathogenic | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.183 (benign), Testable gene in GeneTests with associated GeneReview |
| 1.125 | GUCY2D-L782H | het unknown | 0.165 | 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 | NPRL3-L489Shift | homozygous | 0.048 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Frameshift |
| 1 | NR_027242-C222Shift | het unknown | Unknown | Insufficiently evaluated | Prioritization score: 2 Frameshift | |
| 1 | NR_027242-L114P | het unknown | Unknown | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: Unknown | |
| 1 | NR_027242-Q97Shift | homozygous | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Frameshift | |
| 1 | NR_027242-L22P | homozygous | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: Unknown | |
| 1 | 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 | 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 | HADHB-T2TT | homozygous | 0.008 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests |
| 1 | ABCC1-R723Q | het unknown | 0.031 | Unknown pharmacogenetic | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown |
| 1 | TMPO-Q599E | het unknown | 0.032 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 4 Polyphen 2: 0.878 (probably damaging), Testable gene in GeneTests with associated GeneReview |
| 1 | KRT4-G160GAGGFGAGFGTGGFG | homozygous | 0.008 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests |
| 1 | ATP6V0A2-A813V | het unknown | 0.016 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 4 Polyphen 2: 0.997 (probably damaging), Testable gene in GeneTests with associated GeneReview |
| 1 | NR_028064-G139Shift | homozygous | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Frameshift | |
| 1 | NR_028064-H49Q | homozygous | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: Unknown | |
| 1 | SEPN1-C108Y | homozygous | 0.789 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 1 | SEPN1-A161T | het unknown | Unknown | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview | |
| 1 | SEPN1-N467K | homozygous | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview | |
| 1 | DYX1C1-E417* | het unknown | 0.354 | Unknown pathogenic | Low clinical importance, uncertain | One study reports this variant to be associated with dyslexia. The study group was relatively small and so the results did not have strong significance. If they are representative this variant is associated with a doubled risk for dyslexia, but it is unclear whether the effect would be additive, dominant, or recessive. |
| 1 | C14orf104-D768G | homozygous | Unknown | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview | |
| 1 | C14orf104-R542W | het unknown | Unknown | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview | |
| 1 | C14orf104-E62D | homozygous | Unknown | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview | |
| 1 | PADI6-V343Shift | homozygous | 0.016 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Frameshift |
| 1 | VDR-M1T | homozygous | 0.687 | Unknown pharmacogenetic | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: 0.999 (probably damaging), Testable gene in GeneTests |
| 1 | PNPO-R116Q | homozygous | 0.036 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: 0.953 (probably damaging), Testable gene in GeneTests |
| 1 | BLMH-I443V | het unknown | 0.241 | Unknown pathogenic | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown |
| 1 | COPZ2-R20Q | het unknown | Unknown | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: Unknown | |
| 1 | COPZ2-G19Shift | homozygous | Unknown | Insufficiently evaluated | Prioritization score: 2 Frameshift | |
| 1 | IL6R-D358A | homozygous | 0.266 | Unknown pharmacogenetic | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: 0.911 (probably damaging) |
| 1 | TGIF1-P83Shift | het unknown | 0.139 | Complex/Other pathogenic | Low clinical importance, uncertain | Severe variants in this gene are associated with holoprosencephaly disorders when combined with loss-of-function variants in SHH. Haploinsufficiency was identified in some families with this condition. It is unclear how likely this variant is to occur in combination with an SHH variant, or what phenotypic effect the variant would have on its own. |
| 1 | TGIF1-P292L | het unknown | 0.073 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 1 | ZNF750-P288L | homozygous | 0.023 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.984 (probably damaging) |
| 1 | ZNF750-M235V | homozygous | 0.107 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: 0.01 (benign) |
| 1 | SEBOX-L207S | het unknown | 0.913 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 1 | SEBOX-W10Shift | homozygous | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Frameshift | |
| 1 | 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 | ZFPM1-E444Shift | homozygous | Unknown | Insufficiently evaluated | Prioritization score: 2 Frameshift | |
| 1 | ZFPM1-L446Shift | homozygous | Unknown | Insufficiently evaluated | Prioritization score: 2 Frameshift | |
| 1 | NQO1-P187S | homozygous | 0.283 | Unknown pharmacogenetic | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.215 (possibly damaging) |
| 1 | CYBA-V174A | het unknown | 0.417 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: Unknown, Testable gene in GeneTests |
| 1 | CYBA-Y72H | homozygous | 0.649 | Unknown pharmacogenetic | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests |
| 1 | NR_027336-P160L | homozygous | Unknown | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: Unknown | |
| 1 | NR_027336-V73F | homozygous | Unknown | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: Unknown | |
| 1 | NR_027336-W23* | homozygous | Unknown | Insufficiently evaluated | Prioritization score: 2 Nonsense mutation | |
| 1 | MTHFR-E429A | homozygous | 0.243 | Unknown pharmacogenetic | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.099 (benign), Testable gene in GeneTests |
| 1 | PIK3R6-L609Shift | 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 | SLCO1B1-N130D | het unknown | 0.663 | Unknown pharmacogenetic | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: Unknown |
| 1 | SLCO1B1-V174A | het unknown | 0.097 | Unknown pharmacogenetic | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown |
| 1 | SCN5A-H558R | homozygous | 0.215 | Unknown pharmacogenetic | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 1 | CDKN1A-S31R | het unknown | 0.271 | Unknown pathogenic | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown |
| 1 | HLA-DQB1-R199H | het unknown | 0.192 | 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-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-A23S | het unknown | 0.039 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 1 | HLA-DQB1-V15A | homozygous | 0.053 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 1 | CUL7-Q813R | homozygous | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview | |
| 1 | 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 | homozygous | 0.835 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 1 | SYNE1-E4060D | het unknown | 0.539 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.005 (benign), Testable gene in GeneTests with associated GeneReview |
| 1 | SYNE1-N1915Shift | het unknown | 0.008 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 4 Frameshift, Testable gene in GeneTests with associated GeneReview |
| 1 | MLXIPL-A358V | het unknown | 0.134 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: 0.345 (possibly damaging) |
| 1 | MLXIPL-Q241H | het unknown | 0.090 | Unknown pharmacogenetic | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.697 (possibly damaging) |
| 1 | ERV3-N566S | homozygous | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: Unknown | |
| 1 | ERV3-N478S | homozygous | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: Unknown | |
| 1 | ERV3-R220* | homozygous | Unknown | Insufficiently evaluated | Prioritization score: 2 Nonsense mutation | |
| 1 | ERV3-C189Y | homozygous | Unknown | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: Unknown | |
| 1 | ERV3-T87I | homozygous | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: Unknown | |
| 1 | GLI3-R1537C | het unknown | 0.016 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 4 Polyphen 2: 1.0 (probably damaging), Testable gene in GeneTests with associated GeneReview |
| 1 | GLI3-G1336E | het unknown | 0.016 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 4 Polyphen 2: 0.965 (probably damaging), Testable gene in GeneTests with associated GeneReview |
| 1 | GLI3-P998L | het unknown | 0.444 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 1 | GLI3-T183A | het unknown | 0.663 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 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 | homozygous | 0.547 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 1 | HLA-DQA1-Q57E | homozygous | 0.203 | 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-R70Q | het unknown | Unknown | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview | |
| 1 | HLA-DQA1-R70Q | het unknown | Unknown | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview | |
| 1 | HLA-DQA1-W71L | homozygous | Unknown | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview | |
| 1 | HLA-DQA1-E73L | homozygous | Unknown | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview | |
| 1 | HLA-DQA1-S75R | het unknown | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview | |
| 1 | HLA-DQA1-S75R | het unknown | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview | |
| 1 | HLA-DQA1-K76R | het unknown | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview | |
| 1 | HLA-DQA1-K76R | het unknown | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview | |
| 1 | HLA-DQA1-G78R | homozygous | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview | |
| 1 | HLA-DQA1-G79R | het unknown | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview | |
| 1 | HLA-DQA1-G79R | het unknown | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 3 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-A92L | homozygous | 0.151 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 1 | HLA-DQA1-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-Q198E | homozygous | 0.362 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 1 | TNXB-R452W | homozygous | 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 | HTT-Y2309H | homozygous | 0.459 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 1 | HTT-V2786I | homozygous | 0.193 | Unknown pharmacogenetic | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 1 | ZNF167-N494Shift | homozygous | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Frameshift | |
| 1 | ADH1B-H48R | homozygous | 0.678 | Unknown pharmacogenetic | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown |
| 1 | GPR98-L1093F | homozygous | 0.835 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 1 | GPR98-V1951I | homozygous | 0.820 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 1 | GPR98-N2584S | homozygous | 0.825 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 1 | GPR98-V3094I | homozygous | 0.039 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 1 | GPR98-E3471K | homozygous | 0.834 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 1 | GPR98-E3867K | het unknown | 0.356 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 1 | 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 |
| 1 | GPR98-V5427M | homozygous | 0.918 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 1 | GPR98-V5876I | homozygous | 0.424 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: 0.94 (probably damaging), Testable gene in GeneTests with associated GeneReview |
| 1 | ZNF204P-E93Q | het unknown | Unknown | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: Unknown | |
| 1 | ZNF204P-K6Shift | homozygous | Unknown | Insufficiently evaluated | Prioritization score: 2 Frameshift | |
| 1 | C5orf20-R117* | homozygous | Unknown | Insufficiently evaluated | Prioritization score: 2 Nonsense mutation | |
| 1 | C5orf20-N97D | homozygous | Unknown | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: Unknown | |
| 1 | C5orf20-T75P | homozygous | Unknown | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: Unknown | |
| 1 | IL13-Q144R | homozygous | 0.766 | Unknown pharmacogenetic | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown |
| 1 | KCP-D621V | 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 | 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 | 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 | GCKR-L446P | homozygous | 0.673 | Unknown pharmacogenetic | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown |
| 1 | SMPD1-AL48Del | homozygous | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview | |
| 1 | HRNR-S799T | homozygous | 0.569 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 1 | HRNR-F669S | het unknown | 0.081 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 1 | HRNR-D668G | het unknown | 0.016 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: Unknown |
| 1 | HRNR-R664Q | het unknown | 0.568 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 1 | HRNR-E473G | homozygous | 0.951 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 1 | HRNR-G427D | het unknown | 0.357 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 1 | HRNR-Q376R | homozygous | 1.000 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 1 | HRNR-H273Q | het unknown | 0.383 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 1 | HRNR-R85H | homozygous | 0.553 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: 0.078 (benign) |
| 1 | HRNR-M1Shift | homozygous | Unknown | Insufficiently evaluated | Prioritization score: 2 Frameshift | |
| 1 | CLECL1-S52Shift | homozygous | 0.008 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Frameshift |
| 1 | B3GNT6-A191T | het unknown | 0.130 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 1 | B3GNT6-L316Shift | homozygous | Unknown | Insufficiently evaluated | Prioritization score: 2 Frameshift | |
| 1 | B3GNT6-L335Shift | homozygous | Unknown | Insufficiently evaluated | Prioritization score: 2 Frameshift | |
| 1 | MS4A14-I56Shift | homozygous | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Frameshift | |
| 1 | MS4A14-N177Y | homozygous | 0.543 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: 0.981 (probably damaging) |
| 1 | MS4A14-G584R | homozygous | 0.513 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: 0.003 (benign) |
| 1 | C2orf71-S1225SS | homozygous | Unknown | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests | |
| 1 | C2orf71-L792V | het unknown | Unknown | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests | |
| 1 | HABP2-T50M | homozygous | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests | |
| 1 | NAT2-R197Q | homozygous | 0.272 | Recessive pharmacogenetic | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown |
| 1 | NAT2-R268K | homozygous | 0.675 | Unknown pharmacogenetic | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: Unknown |
| 1 | ATG9B-A765Shift | homozygous | Unknown | Insufficiently evaluated | Prioritization score: 2 Frameshift | |
| 1 | TTN-I32964T | het unknown | Unknown | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview | |
| 1 | TTN-R32018H | het unknown | Unknown | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview | |
| 1 | TTN-R29962H | het unknown | Unknown | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview | |
| 1 | TTN-I26820T | het unknown | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview | |
| 1 | TTN-I25199V | het unknown | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview | |
| 1 | TTN-T24045M | het unknown | Unknown | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview | |
| 1 | TTN-R22371C | het unknown | Unknown | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview | |
| 1 | TTN-V19783I | het unknown | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview | |
| 1 | TTN-T18827I | het unknown | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview | |
| 1 | TTN-P17286L | het unknown | Unknown | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview | |
| 1 | TTN-R16903H | het unknown | Unknown | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview | |
| 1 | TTN-N16125D | het unknown | 0.469 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 1 | TTN-I9278V | het unknown | 0.450 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 1 | TTN-N7559S | het unknown | 0.231 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 1 | TTN-S7181N | het unknown | 0.232 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 1 | TTN-A7111E | het unknown | 0.421 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 1 | TTN-E6900A | het unknown | 0.226 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 1 | TTN-D6218H | het unknown | 0.233 | 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-V2823F | het unknown | 0.008 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 1 | TTN-S1295L | homozygous | 0.881 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 1 | TTN-K1201E | homozygous | 0.519 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 1 | TTN-T811I | het unknown | 0.146 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 1 | TTN-E190Shift | het unknown | 0.009 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 4 Frameshift, Testable gene in GeneTests with associated GeneReview |
| 1 | PLEKHA2-P389Shift | homozygous | 0.032 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Frameshift |
| 1 | AX746750-S137Shift | homozygous | 0.010 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Frameshift |
| 1 | MYO3A-R319H | homozygous | 0.376 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: Unknown, Testable gene in GeneTests |
| 1 | MYO3A-I348V | homozygous | 0.678 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: Unknown, Testable gene in GeneTests |
| 1 | MYO3A-V369I | homozygous | 0.642 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: Unknown, Testable gene in GeneTests |
| 1 | MYO3A-A833S | homozygous | 0.049 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: 0.997 (probably damaging), Testable gene in GeneTests |
| 1 | MYO3A-S956N | homozygous | 0.443 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: Unknown, Testable gene in GeneTests |
| 1 | MYO3A-T1284S | homozygous | 0.406 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: 0.002 (benign), Testable gene in GeneTests |
| 1 | MYO3A-R1313S | homozygous | 0.620 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: Unknown, Testable gene in GeneTests |
| 1 | PTPN22-W620R | homozygous | 0.970 | Unknown pharmacogenetic | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown |
| 1 | AK094914-K152N | homozygous | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: Unknown | |
| 1 | AK094914-T33Shift | homozygous | Unknown | Insufficiently evaluated | Prioritization score: 2 Frameshift | |
| 1 | TCEAL6-Q175Shift | homozygous | 0.022 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Frameshift |
| 1 | COL18A1-A288T | het unknown | 0.177 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: 0.017 (benign), Testable gene in GeneTests |
| 1 | COL18A1-T379M | het unknown | 0.325 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.969 (probably damaging), Testable gene in GeneTests |
| 1 | COL18A1-V1076I | het unknown | 0.133 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: Unknown, Testable gene in GeneTests |
| 1 | COL18A1-P1121R | het unknown | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests | |
| 1 | COL18A1-PGP1362Del | homozygous | Unknown | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests | |
| 1 | COL18A1-D1675N | het unknown | Unknown | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests | |
| 1 | DLL3-F172C | het unknown | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 4 Polyphen 2: 0.981 (probably damaging), Testable gene in GeneTests with associated GeneReview | |
| 1 | DLL3-L218P | het unknown | 0.650 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 1 | DGKK-L1014Shift | homozygous | Unknown | Insufficiently evaluated | Prioritization score: 2 Frameshift | |
| 1 | SSX7-D182E | homozygous | 0.023 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.994 (probably damaging) |
| 1 | KRTAP7-1-I61S | het unknown | Unknown | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: Unknown | |
| 1 | KRTAP7-1-S51P | homozygous | Unknown | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: Unknown | |
| 1 | KRTAP7-1-Y17Shift | homozygous | Unknown | Insufficiently evaluated | Prioritization score: 2 Frameshift | |
| 1 | VSIG10L-Q860Shift | homozygous | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Frameshift | |
| 1 | VSIG10L-R592Q | homozygous | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: Unknown | |
| 1 | VSIG10L-M356I | homozygous | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: Unknown | |
| 1 | VSIG10L-N3T | homozygous | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: Unknown | |
| 1 | AR-E355Q | homozygous | Unknown | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview | |
| 1 | FAM58A-Q15Shift | homozygous | Unknown | Insufficiently evaluated | Prioritization score: 3 Frameshift, Testable gene in GeneTests | |
| 1 | FAM58A-G4Shift | homozygous | Unknown | Insufficiently evaluated | Prioritization score: 3 Frameshift, Testable gene in GeneTests | |
| 1 | ZNF761-L47Shift | homozygous | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Frameshift | |
| 1 | ZNF761-I122S | homozygous | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: Unknown | |
| 1 | ZNF761-V168I | homozygous | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: Unknown | |
| 1 | ZNF761-G528S | homozygous | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: Unknown | |
| 1 | ZNF761-E603Q | homozygous | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: Unknown | |
| 1 | HSH2D-S223Shift | homozygous | 0.016 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Frameshift |
| 1 | ALG12-I393V | het unknown | 0.032 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 4 Polyphen 2: 0.939 (probably damaging), Testable gene in GeneTests with associated GeneReview |
| 1 | F8-N1295K | homozygous | Unknown | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview | |
| 1 | KCNC3-D63G | homozygous | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview | |
| 1 | MYO5B-L1055LL | homozygous | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests | |
| 1 | MYO5B-T126A | homozygous | 0.945 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: Unknown, Testable gene in GeneTests |
| 1 | MYO5B-L59P | het unknown | 0.016 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests |
| 1 | C19orf55-G398Shift | homozygous | Unknown | Insufficiently evaluated | Prioritization score: 2 Frameshift | |
| 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-P174S | het unknown | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: Unknown | |
| 1 | CYP4F2-V433M | homozygous | 0.216 | Recessive pharmacogenetic | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.309 (possibly damaging) |
| 1 | CYP4F2-W12G | homozygous | 0.058 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: 0.001 (benign) |
| 0.75 | PRNP-M129V | het unknown | 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. |
| 0.625 | MTRR-I49M | het unknown | 0.313 | Recessive pathogenic | Low clinical importance, likely | This common variant (HapMap allele frequency of 31.3%) in a protein involved in folate (B9) and cobalamin (B12) metabolism and is often reported as "MTRR I22M" (an alternative transcript position). Mothers homozygous for this variant are associated with having around a increased chance of a child with Down syndrome (risk of 0.4%, average risk in population is 0.25%). Notably, age plays a far larger role in the rate of Down syndrome (risk is 4.5% for a mother 45-years-of-age), and it is unknown how this variant may combine with the effect of age. There are conflicting reports associating this variant with incidence of neural tube defects, possibly when combined with MTHFR A222V. |
| 0.625 | MTRR-K377R | het unknown | 0.260 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.625 | MTRR-H622Y | het unknown | 0.218 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | 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-I356V | het unknown | 0.214 | Unknown pharmacogenetic | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests |
| 0.5 | HSPA1L-T493M | homozygous | 0.868 | Unknown pharmacogenetic | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: 0.001 (benign) |
| 0.5 | CARD6-L30Shift | het unknown | 0.016 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Frameshift |
| 0.5 | CARD6-S86L | het unknown | 0.059 | 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-S140L | het unknown | Unknown | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: Unknown | |
| 0.5 | HLA-C-D138N | het unknown | 0.184 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 0.5 | HLA-C-S123Y | het unknown | 0.965 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 0.5 | HLA-C-K90N | het unknown | 0.119 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: 0.002 (benign) |
| 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 | RAD17-L557R | het unknown | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.997 (probably damaging) | |
| 0.5 | FLT4-R1324L | het unknown | 0.047 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | FLT4-H890Q | 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 | FLT4-T494A | het unknown | 0.043 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.008 (benign), Testable gene in GeneTests with associated GeneReview |
| 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 | 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-R1255H | homozygous | 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 | HPS4-Q620H | homozygous | 0.806 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: 0.859 (probably damaging), Testable gene in GeneTests with associated GeneReview |
| 0.5 | HPS4-H601Y | homozygous | 0.807 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | HPS4-V547M | homozygous | 0.780 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | HPS4-E224G | homozygous | 0.779 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | KIF6-W719R | homozygous | 0.538 | Unknown pharmacogenetic | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: 0.01 (benign) |
| 0.5 | YBEY-R150L | het unknown | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.989 (probably damaging) | |
| 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 | FAT1-K4059N | homozygous | 0.998 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 0.5 | FAT1-S3554A | het unknown | 0.595 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 0.5 | FAT1-Q2933P | het unknown | 0.695 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 0.5 | FAT1-H1273R | het unknown | 0.697 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 0.5 | FAT1-M1149T | het unknown | 0.016 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.92 (probably damaging) |
| 0.5 | FAT1-R1064G | homozygous | 0.752 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 0.5 | FAT1-V862L | homozygous | 0.671 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 0.5 | FAT1-F614L | homozygous | 0.685 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 0.5 | FAT1-V482I | homozygous | 0.297 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 0.5 | FAT1-S404R | homozygous | 0.354 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 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-T67R | homozygous | 0.877 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, 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 | homozygous | 0.404 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.026 (benign), Testable gene in GeneTests with associated GeneReview |
| 0.5 | DNAH5-H12Q | het unknown | 0.896 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | PRODH-R521Q | het unknown | 0.887 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: Unknown, Testable gene in GeneTests |
| 0.5 | PRODH-A472T | het unknown | 0.017 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests |
| 0.5 | PRODH-W185R | het unknown | 0.826 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: Unknown, Testable gene in GeneTests |
| 0.5 | CCT8L2-W365* | het unknown | 0.008 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Nonsense mutation |
| 0.5 | CCT8L2-W320R | homozygous | 0.854 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 0.5 | BDP1-D38E | homozygous | 0.755 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 0.5 | BDP1-K722E | het unknown | 0.031 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.98 (probably damaging) |
| 0.5 | BDP1-R757C | het unknown | 0.314 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 0.5 | BDP1-V778M | het unknown | 0.400 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: 0.009 (benign) |
| 0.5 | BDP1-G1180S | het unknown | 0.419 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 0.5 | BDP1-F1244I | het unknown | 0.402 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 0.5 | BDP1-I1264M | homozygous | 0.794 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 0.5 | BDP1-V1347M | homozygous | 0.808 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 0.5 | BDP1-K1469E | het unknown | 0.379 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: 0.038 (benign) |
| 0.5 | BDP1-Q1676E | het unknown | 0.039 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.937 (probably damaging) |
| 0.5 | BDP1-I2013L | homozygous | 0.824 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 0.5 | GRM6-A807V | het unknown | 0.030 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.418 (possibly damaging), Testable gene in GeneTests |
| 0.5 | GRM6-Q59P | het unknown | 0.211 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: Unknown, Testable gene in GeneTests |
| 0.5 | ADRB2-G16R | het unknown | 0.477 | Unknown pharmacogenetic | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.001 (benign), Testable gene in GeneTests |
| 0.5 | ADRB2-E27Q | het unknown | 0.773 | Unknown pharmacogenetic | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.001 (benign), Testable gene in GeneTests |
| 0.5 | ALDH7A1-K439Q | het unknown | 0.072 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | 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 | ARAP3-P185H | het unknown | 0.023 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.992 (probably damaging) |
| 0.5 | AX746964-G175Shift | het unknown | 0.034 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Frameshift |
| 0.5 | AX746964-K166I | het unknown | 0.628 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 0.5 | FBN2-V965I | homozygous | 0.714 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | FBXL21-N31Shift | het unknown | 0.016 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Frameshift |
| 0.5 | FBXL21-V172Del | het unknown | 0.025 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: Unknown |
| 0.5 | FBXL21-P208L | het unknown | 0.812 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 0.5 | NDUFA2-G9P | het unknown | 0.008 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests |
| 0.5 | SLC26A2-I574T | homozygous | 0.994 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | TCOF1-A665P | het unknown | 0.067 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | TCOF1-V887A | het unknown | 0.168 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | TCOF1-K1298R | het unknown | Unknown | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview | |
| 0.5 | TCOF1-A1353V | het unknown | 0.194 | 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 | COL23A1-T287A | homozygous | 0.525 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: 0.009 (benign) |
| 0.5 | COL23A1-R267W | het unknown | 0.047 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.998 (probably damaging) |
| 0.5 | 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 | 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 | NR_027706-G126Shift | het unknown | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Frameshift | |
| 0.5 | CRISP2-C196R | het unknown | 0.008 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 1.0 (probably damaging) |
| 0.5 | CRISP2-P127R | het unknown | Unknown | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: Unknown | |
| 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 | 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 |
| 0.5 | NIPAL4-S453L | het unknown | 0.094 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.001 (benign), Testable gene in GeneTests with associated GeneReview |
| 0.5 | SLC22A16-M409T | het unknown | 0.092 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: 0.999 (probably damaging) |
| 0.5 | SLC22A16-E232G | het unknown | 0.018 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.998 (probably damaging) |
| 0.5 | PKHD1-Q4048R | het unknown | 0.566 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | PKHD1-Q3899R | het unknown | 0.546 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | PKHD1-L1870V | homozygous | 0.905 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | PKHD1-A1262V | homozygous | 0.239 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | PKHD1-R760C | homozygous | 0.318 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | AX747124-C9Y | homozygous | 0.977 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 0.5 | AX747124-C51Shift | het unknown | 0.039 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Frameshift |
| 0.5 | AX747124-R83C | het unknown | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 1 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-P828S | het unknown | 0.241 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | KCNE1-S38G | homozygous | 0.710 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.003 (benign), Testable gene in GeneTests with associated GeneReview |
| 0.5 | ADRB3-W64R | het unknown | 0.105 | Unknown pharmacogenetic | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown |
| 0.5 | CDK5-Y285D | het unknown | 0.008 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 1.0 (probably damaging) |
| 0.5 | TTC3-M840T | het unknown | 0.646 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 0.5 | TTC3-R924H | het unknown | 0.023 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.997 (probably damaging) |
| 0.5 | TTC3-D1751H | het unknown | 0.791 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 0.5 | METTL2B-V68I | het unknown | 0.103 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: 0.001 (benign) |
| 0.5 | METTL2B-V266I | homozygous | 0.923 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 0.5 | METTL2B-R302Q | het unknown | 0.031 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 1.0 (probably damaging) |
| 0.5 | DSCR4-P40S | het unknown | 0.016 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.891 (probably damaging) |
| 0.5 | EPHB6-T245M | het unknown | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.998 (probably damaging) | |
| 0.5 | CLCN1-G118W | homozygous | 0.995 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | 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 | 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 | TG-S734A | homozygous | 0.698 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests |
| 0.5 | TG-M1028V | homozygous | 0.696 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: 0.003 (benign), Testable gene in GeneTests |
| 0.5 | TG-D1312G | homozygous | 0.344 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: Unknown, Testable gene in GeneTests |
| 0.5 | TG-D1838N | homozygous | 0.304 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: 0.061 (benign), Testable gene in GeneTests |
| 0.5 | TG-I2216V | het unknown | Unknown | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests | |
| 0.5 | TG-W2501R | homozygous | 0.566 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: 0.031 (benign), Testable gene in GeneTests |
| 0.5 | TG-R2530Q | het unknown | 0.586 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: 0.003 (benign), Testable gene in GeneTests |
| 0.5 | PLEC-R2969H | het unknown | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview | |
| 0.5 | PLEC-R2821W | het unknown | Unknown | 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 | PLEC-A641V | het unknown | 0.210 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | RECQL4-R766Shift | homozygous | 0.278 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 3 Frameshift, Testable gene in GeneTests with associated GeneReview |
| 0.5 | RECQL4-S92P | homozygous | 1.000 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | RECQL4-E71G | het unknown | Unknown | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview | |
| 0.5 | IFNK-W13Shift | het unknown | 0.047 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Frameshift |
| 0.5 | IFNK-K133E | homozygous | 0.892 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 0.5 | TRMT12-D195Shift | het unknown | 0.016 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Frameshift |
| 0.5 | TRMT12-D195E | het unknown | 0.016 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: 0.015 (benign) |
| 0.5 | VPS13B-T3350I | het unknown | Unknown | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview | |
| 0.5 | VPS13B-Q3893QAQ | het unknown | Unknown | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview | |
| 0.5 | LY96-R56G | homozygous | 0.981 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 0.5 | LY96-P157S | het unknown | 0.023 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.909 (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 | CNGB3-T298P | homozygous | 0.681 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.007 (benign), Testable gene in GeneTests with associated GeneReview |
| 0.5 | CNGB3-C234W | homozygous | 0.939 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | TMEM67-I604V | homozygous | 0.710 | 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 | AKAP9-M463I | het unknown | 0.376 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: Unknown, Testable gene in GeneTests |
| 0.5 | AKAP9-R1276Q | het unknown | Unknown | Insufficiently evaluated | Prioritization score: 2 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 | EYA4-G277S | homozygous | 0.467 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.697 (possibly damaging), Testable gene in GeneTests with associated GeneReview |
| 0.5 | LRP11-P92R | het unknown | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.988 (probably damaging) | |
| 0.5 | COL6A2-S399N | homozygous | 0.727 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | COL6A2-R680H | homozygous | 0.389 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: 0.999 (probably damaging), Testable gene in GeneTests with associated GeneReview |
| 0.5 | FNDC1-S36P | homozygous | 0.321 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 0.5 | FNDC1-P122S | het unknown | 0.031 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.958 (probably damaging) |
| 0.5 | FNDC1-T438A | het unknown | 0.540 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 0.5 | FNDC1-E463Q | het unknown | 0.734 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: 0.25 (possibly damaging) |
| 0.5 | FNDC1-P884S | het unknown | Unknown | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: Unknown | |
| 0.5 | FNDC1-Q1003E | het unknown | 0.735 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: 0.25 (possibly damaging) |
| 0.5 | FNDC1-D1180E | het unknown | 0.776 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: 0.47 (possibly damaging) |
| 0.5 | FNDC1-L1261P | het unknown | 0.618 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: 0.38 (possibly damaging) |
| 0.5 | FNDC1-Q1280R | het unknown | 0.770 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: 0.25 (possibly damaging) |
| 0.5 | FNDC1-TRRTTT1479Del | het unknown | 0.773 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 0.5 | FNDC1-T1504K | het unknown | 0.772 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 0.5 | LAMA4-G1117S | homozygous | 0.818 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 0.5 | LAMA4-Y498H | homozygous | 0.762 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 0.5 | LAMA4-A283D | homozygous | 1.000 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 0.5 | LAMA4-R154W | het unknown | 0.024 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.999 (probably damaging) |
| 0.5 | TDO2-N229H | het unknown | 0.025 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.851 (probably damaging) |
| 0.5 | EYS-R2326Q | het unknown | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests | |
| 0.5 | EYS-N1902I | het unknown | 0.316 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: Unknown, Testable gene in GeneTests |
| 0.5 | EYS-L1873V | het unknown | 0.081 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: Unknown, Testable gene in GeneTests |
| 0.5 | EYS-S1517G | het unknown | 0.099 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: Unknown, Testable gene in GeneTests |
| 0.5 | EYS-R1515W | het unknown | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests | |
| 0.5 | EYS-I1451T | het unknown | 0.099 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: Unknown, Testable gene in GeneTests |
| 0.5 | EYS-L1419S | het unknown | 0.780 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: Unknown, Testable gene in GeneTests |
| 0.5 | EYS-I1361V | het unknown | 0.098 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: Unknown, Testable gene in GeneTests |
| 0.5 | EYS-Q1325E | het unknown | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests | |
| 0.5 | EYS-I1263V | het unknown | 0.098 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: Unknown, Testable gene in GeneTests |
| 0.5 | EYS-L852P | het unknown | 0.655 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: Unknown, Testable gene in GeneTests |
| 0.5 | EYS-Q571R | het unknown | 0.108 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: Unknown, Testable gene in GeneTests |
| 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 | BACH2-L291V | het unknown | 0.008 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.98 (probably damaging) |
| 0.5 | AIM1-C491R | het unknown | 0.181 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: 0.091 (benign) |
| 0.5 | AIM1-E1196A | het unknown | 0.935 | Unknown pharmacogenetic | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.015 (benign) |
| 0.5 | SLC22A2-S270A | homozygous | 0.876 | Unknown pharmacogenetic | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: Unknown |
| 0.5 | PMS2-R563L | 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 | homozygous | Unknown benign | Low clinical importance, likely | Benign, common variant. | |
| 0.5 | EGFR-R521K | het unknown | 0.259 | Unknown pharmacogenetic | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests |
| 0.5 | GTF2I-N440S | het unknown | 0.031 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.98 (probably damaging) |
| 0.5 | NCF1-R90H | het unknown | 0.025 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests |
| 0.5 | HGF-E304K | het unknown | 0.038 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.028 (benign), 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 | EPDR1-A36Shift | het unknown | 0.012 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Frameshift |
| 0.5 | DAGLB-Q664R | homozygous | 0.140 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: 0.293 (possibly damaging) |
| 0.5 | DAGLB-L456V | het unknown | 0.009 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.961 (probably damaging) |
| 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-V2525I | het unknown | Unknown | Insufficiently evaluated | Prioritization score: 3 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-M4172V | homozygous | 0.334 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | DNAH11-T4177I | het unknown | 0.359 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | GHRHR-T6I | het unknown | 0.039 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests |
| 0.5 | TXNDC3-R43K | het unknown | 0.291 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | TXNDC3-C208R | het unknown | 0.740 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | TXNDC3-R336H | het unknown | 0.047 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: 0.214 (possibly damaging), Testable gene in GeneTests with associated GeneReview |
| 0.5 | TXNDC3-I493T | het unknown | 0.289 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.074 (benign), Testable gene in GeneTests with associated GeneReview |
| 0.5 | BANK1-W40C | het unknown | 0.008 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.998 (probably damaging) |
| 0.5 | BANK1-C650R | homozygous | 0.990 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 0.5 | BBS12-R386Q | homozygous | 0.515 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.009 (benign), Testable gene in GeneTests with associated GeneReview |
| 0.5 | ASPM-L3132R | het unknown | 0.008 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | ASPM-L2647I | homozygous | 0.198 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | ASPM-S2562G | homozygous | 0.212 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 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 | ASPM-K2238Q | het unknown | Unknown | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview | |
| 0.5 | CACNA1S-R1539C | het unknown | 0.073 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | CHIT1-V357V* | het unknown | 0.016 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Nonsense mutation, Testable gene in GeneTests |
| 0.5 | CFHR1-H157Y | homozygous | 0.169 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | CFHR1-L159V | homozygous | 0.473 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | CFH-H402Y | homozygous | 0.818 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | CFH-E936D | het unknown | 0.209 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.504 (possibly damaging), Testable gene in GeneTests with associated GeneReview |
| 0.5 | ARHGAP30-R1017Q | het unknown | 0.031 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.999 (probably damaging) |
| 0.5 | ARHGAP30-L591V | het unknown | 0.385 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: 0.011 (benign) |
| 0.5 | POU2F1-S715Shift | het unknown | Unknown | Insufficiently evaluated | Prioritization score: 2 Frameshift | |
| 0.5 | POU2F1-E717Shift | het unknown | Unknown | Insufficiently evaluated | Prioritization score: 2 Frameshift | |
| 0.5 | SELE-S149R | het unknown | 0.039 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.978 (probably damaging) |
| 0.5 | DMD-R2937Q | homozygous | 0.899 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | 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 | USH2A-I2169T | het unknown | 0.575 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | USH2A-I2106T | homozygous | 0.629 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | USH2A-R1486K | homozygous | 0.646 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.063 (benign), Testable gene in GeneTests with associated GeneReview |
| 0.5 | USH2A-A125T | homozygous | 0.777 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | 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 | ARSE-G424S | homozygous | 0.543 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.003 (benign), Testable gene in GeneTests with associated GeneReview |
| 0.5 | ASMTL-*622Shift | het unknown | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Frameshift | |
| 0.5 | ASMTL-G434S | het unknown | 0.153 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 0.5 | ALK-D1529E | homozygous | 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 | CYP1B1-V432L | het unknown | 0.547 | Unknown pharmacogenetic | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | CYP1B1-A119SFAS | het unknown | Unknown | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview | |
| 0.5 | CYP1B1-R48G | het unknown | 0.360 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, 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 | 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 | 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 | TPO-A373S | homozygous | 0.188 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: 0.001 (benign), Testable gene in GeneTests |
| 0.5 | TPO-S398T | homozygous | 0.684 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.988 (probably damaging), Testable gene in GeneTests |
| 0.5 | AX746649-Q132* | het unknown | 0.031 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Nonsense mutation |
| 0.5 | ITSN2-A1534T | het unknown | 0.136 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: 0.004 (benign) |
| 0.5 | ITSN2-R1337W | het unknown | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 1.0 (probably damaging) | |
| 0.5 | ITSN2-V291I | het unknown | 0.339 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 0.5 | SLAMF1-P333T | het unknown | 0.043 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.999 (probably damaging) |
| 0.5 | LMNA-L15P | homozygous | 0.227 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | LMNA-M174T | homozygous | 0.289 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | ALPL-Y263H | het unknown | 0.286 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | ALPL-V522A | het unknown | 0.078 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | GJB4-V52Shift | het unknown | 0.016 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 3 Frameshift, Testable gene in GeneTests |
| 0.5 | EPHA10-R807Q | het unknown | 0.051 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: 0.982 (probably damaging) |
| 0.5 | EPHA10-V645I | het unknown | 0.048 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: 0.024 (benign) |
| 0.5 | EPHA10-L629P | het unknown | 0.042 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: Unknown |
| 0.5 | EPHA10-R618H | het unknown | 0.008 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.999 (probably damaging) |
| 0.5 | EPHA10-F281I | homozygous | 0.363 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 0.5 | EPHA10-T220K | het unknown | 0.040 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: Unknown |
| 0.5 | PPT1-I134T | het unknown | 0.086 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.001 (benign), Testable gene in GeneTests with associated GeneReview |
| 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 | RNF186-E139Q | het unknown | 0.048 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.902 (probably damaging) |
| 0.5 | CROCC-R7G | homozygous | 1.000 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 0.5 | CROCC-Q302E | het unknown | 0.039 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.956 (probably damaging) |
| 0.5 | CROCC-A439V | het unknown | 0.342 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: 0.001 (benign) |
| 0.5 | CROCC-D463Y | het unknown | 0.045 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.987 (probably damaging) |
| 0.5 | CROCC-P493L | het unknown | 0.017 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.997 (probably damaging) |
| 0.5 | CROCC-P511S | het unknown | 0.904 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: 0.94 (probably damaging) |
| 0.5 | CROCC-T824M | het unknown | 0.041 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: 0.351 (possibly damaging) |
| 0.5 | CROCC-L864Shift | het unknown | Unknown | Insufficiently evaluated | Prioritization score: 2 Frameshift | |
| 0.5 | CROCC-R903S | het unknown | 0.045 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.999 (probably damaging) |
| 0.5 | CROCC-T1072M | het unknown | 0.059 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: 0.994 (probably damaging) |
| 0.5 | PADI4-G55S | homozygous | 0.528 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 0.5 | PADI4-V82A | homozygous | 0.540 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 0.5 | PADI4-G112A | homozygous | 0.512 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: 0.077 (benign) |
| 0.5 | PADI4-R650S | het unknown | 0.008 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.996 (probably damaging) |
| 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 | AKR7L-A254T | het unknown | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: Unknown | |
| 0.5 | AKR7L-C185Y | het unknown | Unknown | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: Unknown | |
| 0.5 | AKR7L-T123Shift | het unknown | Unknown | Insufficiently evaluated | Prioritization score: 2 Frameshift | |
| 0.5 | AKR7L-A118T | het unknown | Unknown | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: Unknown | |
| 0.5 | AKR7L-S67G | het unknown | Unknown | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: Unknown | |
| 0.5 | AKR7L-M65L | het unknown | Unknown | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: Unknown | |
| 0.5 | AKR7L-M23Shift | het unknown | Unknown | Insufficiently evaluated | Prioritization score: 2 Frameshift | |
| 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 | CPT2-M647V | het unknown | 0.093 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.462 (possibly damaging), Testable gene in GeneTests with associated GeneReview |
| 0.5 | LRP8-R952Q | het unknown | 0.130 | Unknown pharmacogenetic | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown |
| 0.5 | ATP7A-E1350K | homozygous | 1.000 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | 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 | SEC22B-W213C | het unknown | 0.064 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 0.5 | ZNF687-G259E | het unknown | 0.118 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 0.5 | ZNF687-G636S | het unknown | 0.025 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.949 (probably damaging) |
| 0.5 | GBA-K144R | homozygous | 0.619 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | GBA-R140W | homozygous | 0.357 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | CHIA-N45D | het unknown | 0.150 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 0.5 | CHIA-D47N | het unknown | 0.150 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: 0.008 (benign) |
| 0.5 | CHIA-R61M | het unknown | 0.155 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 0.5 | CHIA-K125R | het unknown | 0.084 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 0.5 | CHIA-I339V | homozygous | 0.664 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 0.5 | CHIA-F354S | homozygous | 0.408 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: 1.0 (probably damaging) |
| 0.5 | CHIA-F377L | het unknown | 0.008 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.956 (probably damaging) |
| 0.5 | CHIA-V432G | homozygous | 0.635 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 0.5 | KIAA1324-H55Y | het unknown | 0.016 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.999 (probably damaging) |
| 0.5 | KIAA1324-I86V | homozygous | 0.988 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 0.5 | KIAA1324-T623P | het unknown | 0.686 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 0.5 | KIAA1324-L1009P | homozygous | 0.878 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 0.5 | INADL-E362A | het unknown | 0.043 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.96 (probably damaging) |
| 0.5 | INADL-I870M | homozygous | 0.983 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 0.5 | INADL-V1360L | het unknown | 0.563 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 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 | homozygous | 0.569 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: 0.484 (possibly damaging), Testable gene in GeneTests |
| 0.5 | ABCA4-N1868I | het unknown | 0.016 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.77 (possibly damaging), Testable gene in GeneTests |
| 0.5 | DPYD-R29C | homozygous | 0.731 | Complex/Other pharmacogenetic | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: Unknown, Testable gene in GeneTests |
| 0.5 | PEX13-L360V | het unknown | 0.008 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | ALMS1-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 | 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 | 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 | HTR3E-E22Shift | het unknown | 0.016 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Frameshift |
| 0.5 | HTR3E-A86T | het unknown | 0.769 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 0.5 | HRG-S79W | het unknown | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.977 (probably damaging) | |
| 0.5 | HRG-P204S | het unknown | 0.520 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 0.5 | HRG-H340R | het unknown | 0.195 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: 0.815 (possibly damaging) |
| 0.5 | HRG-N493I | het unknown | 0.678 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 0.5 | KIAA1407-R374W | het unknown | 0.026 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.999 (probably damaging) |
| 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 | 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 | FLNB-D1157N | homozygous | 0.538 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: 0.997 (probably damaging), Testable gene in GeneTests with associated GeneReview |
| 0.5 | FLNB-V1471M | homozygous | 0.607 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.02 (benign), Testable gene in GeneTests with associated GeneReview |
| 0.5 | LRIG1-M615V | homozygous | 0.372 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: 0.057 (benign) |
| 0.5 | LRIG1-E96K | het unknown | 0.008 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.985 (probably damaging) |
| 0.5 | LRIG1-L26V | het unknown | 0.991 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: 0.006 (benign) |
| 0.5 | LRIG1-L24V | het unknown | 0.562 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: 0.08 (benign) |
| 0.5 | KBTBD8-F179L | het unknown | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.998 (probably damaging) | |
| 0.5 | IDUA-R105Q | het unknown | 0.147 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.023 (benign), Testable gene in GeneTests with associated GeneReview |
| 0.5 | IDUA-A361T | het unknown | 0.204 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | IDUA-V454I | het unknown | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.003 (benign), Testable gene in GeneTests with associated GeneReview | |
| 0.5 | FGFR3-P451S | het unknown | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview | |
| 0.5 | TET2-P363L | het unknown | 0.028 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.917 (probably damaging) |
| 0.5 | TET2-L1721W | het unknown | 0.070 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: 0.032 (benign) |
| 0.5 | TET2-I1762V | het unknown | 0.184 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: 0.006 (benign) |
| 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 | SYNPO2-R147Del | homozygous | 0.273 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 0.5 | SYNPO2-G154A | het unknown | 0.236 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: 0.135 (benign) |
| 0.5 | SYNPO2-T573A | homozygous | 0.829 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 0.5 | SYNPO2-R1009W | het unknown | 0.016 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.986 (probably damaging) |
| 0.5 | ANXA5-R245Q | het unknown | 0.008 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.986 (probably damaging) |
| 0.5 | HSD17B3-V31I | het unknown | 0.031 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests |
| 0.5 | ATOH1-H237Q | het unknown | 0.008 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.932 (probably damaging) |
| 0.5 | TRIOBP-S217N | homozygous | 0.413 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.914 (probably damaging), Testable gene in GeneTests |
| 0.5 | TRIOBP-T715I | het unknown | Unknown | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests | |
| 0.5 | TRIOBP-N863K | homozygous | 0.342 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.98 (probably damaging), Testable gene in GeneTests |
| 0.5 | TRIOBP-F1187L | homozygous | 0.320 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.995 (probably damaging), Testable gene in GeneTests |
| 0.5 | TRIOBP-H1300R | homozygous | 0.431 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: 0.006 (benign), Testable gene in GeneTests |
| 0.5 | TRIOBP-W1377R | homozygous | 0.964 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: 0.084 (benign), Testable gene in GeneTests |
| 0.5 | TCN2-F89L | het unknown | Unknown | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests | |
| 0.5 | TCN2-R259P | het unknown | 0.594 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: Unknown, Testable gene in GeneTests |
| 0.5 | TCN2-S348F | het unknown | 0.115 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: Unknown, Testable gene in GeneTests |
| 0.5 | TCN2-R399Q | het unknown | 0.077 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.969 (probably damaging), Testable gene in GeneTests |
| 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 | homozygous | 0.274 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.998 (probably damaging), Testable gene in GeneTests |
| 0.5 | ENAM-P724L | het unknown | 0.033 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests |
| 0.5 | CCR2-V64I | het unknown | 0.148 | Unknown protective | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.001 (benign) |
| 0.5 | GCAT-R39C | het unknown | 0.580 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: 0.989 (probably damaging) |
| 0.5 | GCAT-R387W | het unknown | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 1.0 (probably damaging) | |
| 0.5 | ABCB11-V444A | homozygous | 0.606 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.002 (benign), Testable gene in GeneTests with associated GeneReview |
| 0.5 | SSFA2-P836L | het unknown | 0.029 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.992 (probably damaging) |
| 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 | CASP10-L522I | homozygous | 0.309 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 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 | LY75-K1347R | het unknown | 0.076 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: 0.895 (probably damaging) |
| 0.5 | LY75-K1321N | het unknown | 0.862 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 0.5 | LY75-P1247L | het unknown | 0.008 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.996 (probably damaging) |
| 0.5 | LY75-D807E | homozygous | 0.488 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 0.5 | LY75-E268D | homozygous | 0.174 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: 0.018 (benign) |
| 0.5 | SLC4A5-H253Y | het unknown | 0.070 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.984 (probably damaging), Testable gene in GeneTests |
| 0.5 | CCDC74B-P201S | het unknown | 0.045 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.998 (probably damaging) |
| 0.5 | CCDC74B-H149R | homozygous | 0.956 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 0.5 | NEB-A6277P | homozygous | 0.691 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | NEB-R4389T | homozygous | 0.724 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | NEB-K2613N | homozygous | 0.138 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | NEB-R2437Q | het unknown | 0.047 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 3 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 |
| 0.5 | GALNT5-D678A | het unknown | 0.016 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.997 (probably damaging) |
| 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 | BMPR2-S775N | het unknown | 0.023 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | PER2-V903I | het unknown | 0.039 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.884 (probably damaging) |
| 0.5 | MLH1-I219V | homozygous | 0.124 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.003 (benign), Testable gene in GeneTests with associated GeneReview |
| 0.5 | FAM83F-R436G | het unknown | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.939 (probably damaging) | |
| 0.5 | CCBP2-V41A | het unknown | 0.031 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.97 (probably damaging) |
| 0.5 | CCBP2-P222Shift | het unknown | 0.023 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Frameshift |
| 0.5 | CCBP2-Y373S | het unknown | 0.421 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 0.5 | COL6A3-A3012P | homozygous | 0.843 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | COL6A3-M2927T | homozygous | 0.674 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | COL6A3-P2218L | het unknown | 0.168 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | COL6A3-P2141H | het unknown | Unknown | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview | |
| 0.5 | COL4A3-G43R | het unknown | 0.239 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | COL4A3-L141P | homozygous | 0.760 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | COL4A3-E162G | homozygous | 0.764 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | COL4A3-D326Y | het unknown | 0.203 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | ABCA12-I2307V | het unknown | Unknown | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview | |
| 0.5 | ABCA12-S777T | homozygous | 1.000 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | ATIC-T116S | homozygous | 0.184 | Unknown pharmacogenetic | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: 0.001 (benign) |
| 0.5 | SMARCAL1-S315R | het unknown | 0.035 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: 0.27 (possibly damaging), 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 | CACNA2D1-A924Shift | het unknown | 0.009 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Frameshift |
| 0.5 | AK094748-D110A | het unknown | 0.049 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: Unknown |
| 0.5 | AK094748-S209Shift | het unknown | 0.019 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Frameshift |
| 0.5 | B3GALTL-E370K | homozygous | 0.612 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.088 (benign), Testable gene in GeneTests with associated GeneReview |
| 0.5 | 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 | NOTCH3-P496L | het unknown | 0.023 | Unknown benign | Low clinical importance, uncertain | Presumed benign, seen in two healthy PGP participants. |
| 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 | BC139719-P80Shift | het unknown | 0.035 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Frameshift |
| 0.5 | BC139719-T99S | het unknown | 0.597 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 0.5 | ZNF84-K550R | het unknown | 0.047 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.982 (probably damaging) |
| 0.5 | SH2B3-W262R | het unknown | 0.768 | Unknown pharmacogenetic | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown |
| 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 | CTNS-P380A | homozygous | 0.203 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 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 | UGGT2-H1381R | het unknown | 0.008 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 1.0 (probably damaging) |
| 0.5 | UGGT2-M994L | het unknown | 0.328 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: 0.903 (probably damaging) |
| 0.5 | UGGT2-S328A | homozygous | 0.852 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 0.5 | DOCK9-R18W | het unknown | 0.044 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.999 (probably damaging) |
| 0.5 | PSMB5-R24C | het unknown | 0.035 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.982 (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 | HP-N129D | het unknown | 0.064 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: Unknown, Testable gene in GeneTests |
| 0.5 | HP-E130K | het unknown | 0.046 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: 0.004 (benign), Testable gene in GeneTests |
| 0.5 | DHODH-K7Q | homozygous | 0.560 | Unknown pharmacogenetic | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: 0.004 (benign) |
| 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 | PROZ-R295H | het unknown | 0.005 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.884 (probably damaging) |
| 0.5 | IRS2-G1057D | homozygous | 0.232 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.024 (benign) |
| 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 | 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-T590M | het unknown | 0.053 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.011 (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 | AK054965-R105P | het unknown | 0.047 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: Unknown |
| 0.5 | AK054965-R6Shift | het unknown | 0.047 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Frameshift |
| 0.5 | FPR1-E346A | het unknown | 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-I11T | homozygous | 0.831 | Unknown pharmacogenetic | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: Unknown |
| 0.5 | ATM-D1853N | het unknown | 0.066 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 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 | RABEP1-M628I | het unknown | 0.032 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.991 (probably damaging) |
| 0.5 | USP6-H89N | het unknown | 0.066 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 0.5 | USP6-S91T | het unknown | 0.065 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 0.5 | USP6-Y162H | het unknown | 0.055 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 0.5 | USP6-EW474RQ | het unknown | 0.823 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 0.5 | USP6-EW474RQ | het unknown | 0.823 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 0.5 | USP6-V525I | het unknown | 0.074 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: 0.574 (possibly damaging) |
| 0.5 | USP6-R1101W | het unknown | 0.023 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.998 (probably damaging) |
| 0.5 | MYO7A-S1666C | het unknown | 0.610 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | MYO7A-L1954I | homozygous | 0.552 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | ICAM1-K469E | het unknown | 0.297 | Unknown pharmacogenetic | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown |
| 0.5 | MFSD6L-I339T | het unknown | 0.131 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: 0.003 (benign) |
| 0.5 | MFSD6L-L85I | het unknown | 0.041 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.914 (probably damaging) |
| 0.5 | ADAMTS10-H1101Q | homozygous | 1.000 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | ADAMTS10-T134S | het unknown | 0.910 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.001 (benign), Testable gene in GeneTests with associated GeneReview |
| 0.5 | NUMA1-Q579Shift | het unknown | Unknown | Insufficiently evaluated | Prioritization score: 2 Frameshift | |
| 0.5 | NUMA1-Q579Shift | het unknown | Unknown | Insufficiently evaluated | Prioritization score: 2 Frameshift | |
| 0.5 | ST14-R85H | het unknown | 0.023 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.997 (probably damaging) |
| 0.5 | FOXM1-P673L | het unknown | 0.008 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.863 (probably damaging) |
| 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 | ADCY6-W240Shift | het unknown | Unknown | Insufficiently evaluated | Prioritization score: 2 Frameshift | |
| 0.5 | ADCY6-AG237GA | het unknown | Unknown | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: Unknown | |
| 0.5 | ADCY6-S236Shift | het unknown | Unknown | Insufficiently evaluated | Prioritization score: 2 Frameshift | |
| 0.5 | CHRNE-G18V | het unknown | 0.031 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | ZNF480-C3Shift | het unknown | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Frameshift | |
| 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-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 | VWF-F2561Y | het unknown | 0.039 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: 0.293 (possibly damaging), Testable gene in GeneTests with associated GeneReview |
| 0.5 | VWF-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 | SLCO1B3-S112A | homozygous | 0.646 | Unknown pharmacogenetic | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: Unknown |
| 0.5 | SLCO1B3-M233I | homozygous | 0.659 | Unknown pharmacogenetic | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: 0.131 (benign) |
| 0.5 | 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-Q406R | het unknown | Unknown | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: Unknown | |
| 0.5 | ZNF880-K471R | het unknown | 0.328 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 0.5 | 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 | SYNE2-M1969T | homozygous | 0.637 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.991 (probably damaging), Testable gene in GeneTests |
| 0.5 | SYNE2-A2284V | homozygous | 0.637 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: 0.289 (possibly damaging), Testable gene in GeneTests |
| 0.5 | SYNE2-S2359N | homozygous | 0.676 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: 0.697 (possibly damaging), Testable gene in GeneTests |
| 0.5 | SYNE2-A2395T | homozygous | 0.835 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: Unknown, Testable gene in GeneTests |
| 0.5 | SYNE2-S2802G | homozygous | 0.864 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: 0.012 (benign), Testable gene in GeneTests |
| 0.5 | SYNE2-I2942V | homozygous | 0.622 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: Unknown, Testable gene in GeneTests |
| 0.5 | SYNE2-D3253H | homozygous | 0.684 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.933 (probably damaging), Testable gene in GeneTests |
| 0.5 | SYNE2-H3309R | homozygous | 0.647 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: 0.001 (benign), Testable gene in GeneTests |
| 0.5 | SYNE2-L5186M | het unknown | 0.708 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: Unknown, Testable gene in GeneTests |
| 0.5 | NR2E3-T318Shift | homozygous | 1.000 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Frameshift, Testable gene in GeneTests |
| 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 | SH2B1-T484A | het unknown | 0.217 | Unknown pharmacogenetic | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown |
| 0.5 | SLC24A1-S331Shift | het unknown | Unknown | Insufficiently evaluated | Prioritization score: 2 Frameshift | |
| 0.5 | SLC24A1-S332Shift | het unknown | 0.019 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Frameshift |
| 0.5 | 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 | 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 | USP8-I791V | het unknown | Unknown | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: Unknown | |
| 0.5 | ZNF224-M118V | homozygous | 0.793 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 0.5 | ZNF224-H162L | homozygous | 0.780 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: 0.262 (possibly damaging) |
| 0.5 | ZNF224-T177M | het unknown | 0.129 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: 0.995 (probably damaging) |
| 0.5 | ZNF224-K640E | homozygous | 0.593 | Unknown pharmacogenetic | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: Unknown |
| 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 | HCN4-P883R | het unknown | Unknown | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests | |
| 0.5 | HCN4-AG250ER | het unknown | Unknown | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests | |
| 0.5 | TNRC6A-P312S | het unknown | 0.016 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.991 (probably damaging) |
| 0.5 | TNRC6A-T502S | het unknown | 0.016 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: 0.017 (benign) |
| 0.5 | PRODH2-P91R | het unknown | 0.045 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.243 (possibly damaging), Testable gene in GeneTests |
| 0.5 | PKD1-A4059V | het unknown | 0.048 | Unknown benign | Low clinical importance, likely | Probably benign. |
| 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-A3512V | het unknown | 0.125 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.001 (benign), Testable gene in GeneTests with associated GeneReview |
| 0.5 | PKD1-T2582M | het unknown | Unknown | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview | |
| 0.5 | PKD1-R1951Q | het unknown | Unknown | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview | |
| 0.5 | PKD1-V1943I | het unknown | 0.020 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.129 (benign), 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 | PKD1-L1102V | het unknown | Unknown | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview | |
| 0.5 | ATP4A-V265A | homozygous | 0.676 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 0.5 | ATP4A-P240H | het unknown | 0.008 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.929 (probably damaging) |
| 0.5 | NPHS1-N1077S | het unknown | 0.132 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.993 (probably damaging), Testable gene in GeneTests |
| 0.5 | NPHS1-R408Q | het unknown | 0.047 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: 1.0 (probably damaging), Testable gene in GeneTests |
| 0.5 | ABCC6-R1064W | het unknown | 0.031 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | ABCC6-M848V | homozygous | 0.954 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | PRX-G1132R | homozygous | 0.978 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | PRX-V882A | het unknown | 0.493 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.014 (benign), Testable gene in GeneTests with associated GeneReview |
| 0.5 | SLC28A1-L140LV | homozygous | Unknown | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: Unknown | |
| 0.5 | SLC28A1-D521N | homozygous | 0.226 | Unknown pharmacogenetic | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: Unknown |
| 0.5 | RYR1-G2060C | het unknown | 0.055 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.345 (possibly damaging), Testable gene in GeneTests with associated GeneReview |
| 0.5 | FBN1-C472Y | homozygous | 1.000 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | DUOX2-S1067L | het unknown | 0.662 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: Unknown, Testable gene in GeneTests |
| 0.5 | DUOX2-P982A | het unknown | 0.010 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests |
| 0.5 | DUOX2-R701Q | het unknown | 0.024 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests |
| 0.5 | DUOX2-H678R | het unknown | 0.195 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: Unknown, Testable gene in GeneTests |
| 0.5 | DUOX2-P138L | het unknown | 0.926 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: Unknown, Testable gene in GeneTests |
| 0.5 | TSNAXIP1-R428C | het unknown | 0.023 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.97 (probably damaging) |
| 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-R364H | homozygous | 0.968 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | ZNF792-N425D | het unknown | 0.037 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.968 (probably damaging) |
| 0.5 | ZNF792-R177Q | homozygous | 0.715 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 0.5 | SERPINA10-Q384R | het unknown | 0.008 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.997 (probably damaging) |
| 0.5 | SERPINA10-T161S | het unknown | 0.377 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 0.5 | SERPINA10-S61G | het unknown | 0.404 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 0.5 | SERPINA10-K46R | het unknown | 0.674 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 0.5 | ATP13A1-L101Shift | het unknown | Unknown | Insufficiently evaluated | Prioritization score: 2 Frameshift | |
| 0.5 | ATP13A1-G90Shift | het unknown | Unknown | Insufficiently evaluated | Prioritization score: 2 Frameshift | |
| 0.5 | MTHFD1-K134R | homozygous | 0.846 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 0.5 | MTHFD1-R653Q | het unknown | 0.320 | Unknown pharmacogenetic | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.008 (benign) |
| 0.5 | MLH3-S966P | het unknown | Unknown | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: Unknown, 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 | 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 | HERC2-M1654Del | het unknown | Unknown | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: Unknown | |
| 0.5 | HERC2-R1542H | het unknown | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.999 (probably damaging) | |
| 0.5 | TK2-P33A | het unknown | 0.048 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests |
| 0.5 | TK2-K30R | homozygous | 0.270 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: Unknown, Testable gene in GeneTests |
| 0.5 | CCDC135-R583W | het unknown | 0.008 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.999 (probably damaging) |
| 0.5 | STRC-Q84R | homozygous | 1.000 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | 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 | PLA2G4D-R807Q | het unknown | 0.048 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.976 (probably damaging) |
| 0.5 | PLA2G4D-R783Q | het unknown | 0.054 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: 0.01 (benign) |
| 0.5 | PLA2G4D-A649G | het unknown | 0.048 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: Unknown |
| 0.5 | PLA2G4D-K639Q | het unknown | 0.048 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: Unknown |
| 0.5 | PLA2G4D-Y627C | het unknown | 0.062 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 0.5 | PLA2G4D-R601H | het unknown | 0.062 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: 0.001 (benign) |
| 0.5 | PLA2G4D-R573W | het unknown | 0.054 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 0.5 | PLA2G4D-P10T | het unknown | 0.080 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: 0.11 (benign) |
| 0.5 | PLA2G4E-G36Shift | het unknown | 0.013 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Frameshift |
| 0.5 | PLA2G4E-C5R | het unknown | 0.322 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 0.5 | TRPM1-H1498Q | het unknown | 0.036 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: 0.001 (benign), Testable gene in GeneTests |
| 0.5 | TRPM1-E1375* | het unknown | 0.066 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Nonsense mutation, Testable gene in GeneTests |
| 0.5 | TRPM1-P399T | het unknown | 0.008 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: 0.992 (probably damaging), Testable gene in GeneTests |
| 0.5 | TRPM1-M1T | het unknown | 0.898 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: Unknown, Testable gene in GeneTests |
| 0.5 | AVEN-E243A | het unknown | 0.008 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.924 (probably damaging) |
| 0.5 | SPTBN5-N3529T | homozygous | 0.668 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 0.5 | SPTBN5-A3240G | het unknown | 0.197 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 0.5 | SPTBN5-Y2922H | het unknown | 0.078 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 0.5 | SPTBN5-Q2827R | het unknown | 0.494 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 0.5 | SPTBN5-G2786R | het unknown | 0.182 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 0.5 | SPTBN5-T2678I | het unknown | 0.221 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 0.5 | SPTBN5-R2081Q | het unknown | 0.991 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 0.5 | SPTBN5-R1848* | het unknown | 0.039 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Nonsense mutation |
| 0.5 | SPTBN5-R1310H | het unknown | 0.139 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 0.5 | SPTBN5-V1025I | het unknown | 0.201 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 0.5 | SPTBN5-C1000R | homozygous | 0.859 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 0.5 | SPTBN5-Q960H | het unknown | 0.039 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: Unknown |
| 0.5 | SPTBN5-H398R | homozygous | 0.870 | 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 | homozygous | 0.431 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | TBX21-H33Q | het unknown | 0.053 | Unknown pharmacogenetic | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: 0.251 (possibly damaging) |
| 0.5 | SCN4A-N1376D | het unknown | 0.604 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | SCN4A-S524G | homozygous | 0.938 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | COL17A1-D1370G | homozygous | 0.257 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | COL17A1-M703V | homozygous | 0.672 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | COL17A1-G428S | homozygous | 0.771 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | COL17A1-T210M | homozygous | 0.557 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | ZNF217-D889G | het unknown | 0.048 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.972 (probably damaging) |
| 0.5 | ZNF217-V739I | het unknown | 0.170 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 0.5 | COG1-N392S | homozygous | 0.536 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | ZFYVE27-V82I | het unknown | 0.031 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests |
| 0.5 | ZFYVE27-G138V | homozygous | 0.720 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: Unknown, Testable gene in GeneTests |
| 0.5 | HPS1-G283W | het unknown | 0.034 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.026 (benign), Testable gene in GeneTests with associated GeneReview |
| 0.5 | PIGT-D257A | het unknown | 0.031 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.984 (probably damaging) |
| 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 | OR52K2-R124C | het unknown | 0.043 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.995 (probably damaging) |
| 0.5 | OR52K2-R236H | het unknown | 0.246 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: 0.99 (probably damaging) |
| 0.5 | GNRH2-A16V | het unknown | 0.229 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: 0.697 (possibly damaging) |
| 0.5 | GNRH2-S116Shift | het unknown | 0.031 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Frameshift |
| 0.5 | 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 | ARMS2-R38* | homozygous | 0.124 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Nonsense mutation, Testable gene in GeneTests |
| 0.5 | AP1S2-T35A | het unknown | Unknown | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests | |
| 0.5 | AP1S2-R29P | het unknown | Unknown | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests | |
| 0.5 | BAG3-C151R | het unknown | 0.065 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | TACC2-V170I | het unknown | 0.225 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 0.5 | TACC2-L830F | het unknown | 0.204 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 0.5 | TACC2-A1066T | het unknown | 0.185 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 0.5 | TACC2-W1103R | homozygous | 0.964 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: 0.003 (benign) |
| 0.5 | TACC2-A1425T | het unknown | 0.241 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 0.5 | TACC2-A2732T | het unknown | 0.238 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 0.5 | TACC2-S2909T | het unknown | 0.023 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.981 (probably damaging) |
| 0.5 | ATP8B1-A1152T | homozygous | 0.998 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | CDH23-G488A | het unknown | 0.180 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | CDH23-S494N | het unknown | 0.273 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | CDH23-V1672I | het unknown | 0.133 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | CDH23-T1996S | homozygous | 0.248 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | LAMA1-T2611A | het unknown | 0.220 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: 0.001 (benign) |
| 0.5 | LAMA1-I2076T | het unknown | 0.319 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 0.5 | LAMA1-K2002E | het unknown | 0.691 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 0.5 | LAMA1-M1340V | het unknown | 0.203 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: 0.942 (probably damaging) |
| 0.5 | LAMA1-G919R | het unknown | Unknown | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: Unknown | |
| 0.5 | LAMA1-A886V | het unknown | 0.016 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.936 (probably damaging) |
| 0.5 | LAMA1-N674T | het unknown | 0.165 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: 0.167 (benign) |
| 0.5 | TTR-G26S | het unknown | 0.030 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 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 | het unknown | 0.508 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | SETX-I1386V | het unknown | 0.494 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | SETX-G1252R | het unknown | 0.494 | 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 | 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 | LAMA3-P17G | het unknown | Unknown | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview | |
| 0.5 | LAMA3-N2815K | het unknown | 0.130 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | LAMA3-S2834G | homozygous | 0.993 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | DSG2-E713K | het unknown | 0.039 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.137 (benign), Testable gene in GeneTests with associated GeneReview |
| 0.5 | DSG2-R773K | het unknown | 0.221 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.003 (benign), Testable gene in GeneTests with associated GeneReview |
| 0.5 | RNF207-R539C | het unknown | 0.008 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.997 (probably damaging) |
| 0.5 | RNF207-N573S | het unknown | 0.474 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 0.5 | SLC38A10-I1072Del | het unknown | Unknown | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: Unknown | |
| 0.5 | SLC38A10-A831G | het unknown | 0.543 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: 0.101 (benign) |
| 0.5 | SLC38A10-E676D | het unknown | 0.030 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.92 (probably damaging) |
| 0.5 | SLC38A10-K559R | het unknown | 0.052 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: 0.813 (possibly damaging) |
| 0.5 | SLC38A10-R514* | het unknown | Unknown | Insufficiently evaluated | Prioritization score: 2 Nonsense mutation | |
| 0.5 | UNC5B-I242V | het unknown | 0.031 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.97 (probably damaging) |
| 0.5 | UNC5B-A703APAPA | het unknown | Unknown | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: Unknown | |
| 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 | 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 | ITGB4-L1779P | homozygous | 0.486 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | NEBL-D378H | het unknown | 0.078 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: 0.995 (probably damaging) |
| 0.5 | NEBL-M351V | het unknown | 0.042 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.998 (probably damaging) |
| 0.5 | MAPK8-S414Shift | het unknown | 0.014 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Frameshift |
| 0.5 | ENGASE-R321H | het unknown | 0.043 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.989 (probably damaging) |
| 0.5 | SEPT4-E311V | het unknown | 0.047 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.856 (probably damaging) |
| 0.5 | ZDHHC13-K99R | homozygous | 0.579 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 0.5 | ZDHHC13-Y392C | het unknown | 0.009 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.998 (probably damaging) |
| 0.5 | MAP2K3-P40T | het unknown | 0.500 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: 0.968 (probably damaging) |
| 0.5 | MAP2K3-R55T | het unknown | 0.500 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 0.5 | MAP2K3-R94L | het unknown | 0.500 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: 0.992 (probably damaging) |
| 0.5 | MAP2K3-R96W | het unknown | 0.500 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: 0.999 (probably damaging) |
| 0.5 | MAP2K3-Q102* | het unknown | 0.500 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 1 Nonsense mutation |
| 0.5 | MAP2K3-L215W | het unknown | 0.429 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: 1.0 (probably damaging) |
| 0.5 | MAP2K3-T222M | het unknown | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 1.0 (probably damaging) | |
| 0.5 | MAP2K3-R293H | het unknown | 0.500 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: 0.338 (possibly damaging) |
| 0.5 | MAP2K3-V339M | het unknown | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: 0.815 (possibly damaging) | |
| 0.5 | DOT1L-G1386S | homozygous | 0.384 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 0.5 | DOT1L-G1443C | het unknown | 0.013 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.988 (probably damaging) |
| 0.5 | INSC-D333N | het unknown | 0.007 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.985 (probably damaging) |
| 0.5 | SLC6A5-F124S | homozygous | 0.803 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | SLC6A5-A162G | homozygous | 0.997 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | BDNF-V148M | het unknown | 0.208 | Unknown pharmacogenetic | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown |
| 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 | 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 | STXBP2-I526V | homozygous | 0.725 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | CCDC87-L738R | het unknown | 0.031 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.996 (probably damaging) |
| 0.5 | MEN1-T546A | homozygous | 0.791 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | CCDC144B-G709Shift | het unknown | 0.008 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Frameshift |
| 0.5 | CCDC144B-A578S | het unknown | Unknown | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: Unknown | |
| 0.5 | FAM111B-Y132Shift | het unknown | 0.031 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Frameshift |
| 0.5 | GRIN3B-R404W | homozygous | 0.360 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: 0.976 (probably damaging) |
| 0.5 | GRIN3B-W414R | homozygous | 0.681 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 0.5 | GRIN3B-G466Shift | het unknown | 0.023 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Frameshift |
| 0.5 | GRIN3B-T577M | het unknown | 0.347 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: 0.001 (benign) |
| 0.5 | GRIN3B-Y966N | homozygous | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: Unknown | |
| 0.5 | GRIN3B-Q1006E | homozygous | 0.433 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: 0.051 (benign) |
| 0.5 | GRIN3B-APAEAPPHS1028Del | het unknown | Unknown | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: Unknown | |
| 0.5 | GRIN3B-P1039R | het unknown | 0.122 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 0.5 | ABCC8-A1369S | homozygous | 0.755 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.5 | TGM6-M58V | homozygous | 0.864 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 0.5 | TGM6-R448W | het unknown | 0.016 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.993 (probably damaging) |
| 0.5 | GFAP-D295N | het unknown | 0.067 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: 0.942 (probably damaging), Testable gene in GeneTests with associated GeneReview |
| 0.375 | SPG11-F463S | het unknown | 0.470 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.375 | SPG11-E370K | het unknown | Unknown | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview | |
| 0.375 | JUP-M697L | het unknown | 0.520 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.375 | JUP-N638H | het unknown | Unknown | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview | |
| 0.375 | PARK2-V380L | het unknown | 0.169 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.375 | PARK2-D243N | het unknown | Unknown | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview | |
| 0.375 | HMCN1-E2893G | het unknown | 0.617 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.91 (probably damaging), Testable gene in GeneTests |
| 0.375 | HMCN1-R5412I | het unknown | Unknown | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests | |
| 0.375 | SLX4-P1122L | het unknown | 0.288 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.002 (benign), Testable gene in GeneTests with associated GeneReview |
| 0.375 | SLX4-G1113R | het unknown | Unknown | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview | |
| 0.25 | GAA-D91N | het unknown | 0.008 | Recessive benign | Low clinical importance, uncertain | This is a rare but non-pathogenic coding polymorphism in GAA that creates variant allozyme, known as GAA*2. |
| 0.25 | GAA-H199R | het unknown | 0.574 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.25 | GAA-R223H | het unknown | 0.606 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.25 | GAA-V780I | het unknown | 0.720 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.25 | CDA-K27Q | het unknown | 0.190 | Unknown pharmacogenetic | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: Unknown |
| 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 | 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 | 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-G259R | het unknown | 0.070 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: 0.001 (benign) |
| 0.25 | TLR5-F822L | homozygous | 1.000 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 0.25 | TLR5-F616L | het unknown | 0.263 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: 0.011 (benign) |
| 0.25 | TLR5-N592S | het unknown | 0.211 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown |
| 0.25 | ITGA6-A380T | het unknown | 0.253 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.25 | UHRF1-A638T | het unknown | 0.237 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 0.25 | UHRF1-S651Shift | het unknown | Unknown | Insufficiently evaluated | Prioritization score: 2 Frameshift | |
| 0.25 | CLN3-H404R | het unknown | 0.102 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: 0.999 (probably damaging), Testable gene in GeneTests with associated GeneReview |
| 0.25 | CARD14-S976Shift | het unknown | Unknown | Insufficiently evaluated | Prioritization score: 2 Frameshift | |
| 0.25 | CARD14-D977G | het unknown | Unknown | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: Unknown | |
| 0.25 | OTOF-R82C | het unknown | 0.229 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.006 (benign), Testable gene in GeneTests with associated GeneReview |
| 0.25 | 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 | FANCA-G809D | het unknown | 0.671 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.25 | 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 | PTCHD2-G182S | het unknown | 0.330 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: 0.002 (benign) |
| 0.25 | PTCHD2-A650T | het unknown | 0.310 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 0.25 | PTCHD2-G661A | het unknown | 0.239 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: 0.075 (benign) |
| 0.25 | PTCHD2-C1056CHLCHLC | het unknown | Unknown | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: Unknown | |
| 0.25 | PTCHD2-L1055Shift | het unknown | Unknown | Insufficiently evaluated | Prioritization score: 2 Frameshift | |
| 0.25 | DNAH9-F103Shift | het unknown | Unknown | Insufficiently evaluated | Prioritization score: 2 Frameshift | |
| 0.25 | DNAH9-R151H | het unknown | 0.028 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: Unknown |
| 0.25 | DNAH9-Q445R | homozygous | 0.985 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 0.25 | DNAH9-N2195S | het unknown | 0.235 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: 0.174 (benign) |
| 0.25 | DNAH9-V2505L | het unknown | 0.026 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: 0.129 (benign) |
| 0.25 | DNAH9-D4036N | het unknown | 0.182 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: 0.031 (benign) |
| 0.25 | DNAH7-L3319P | homozygous | 0.914 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 0.25 | DNAH7-Y2054C | het unknown | Unknown | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: Unknown | |
| 0.25 | DNAH7-I1854V | het unknown | 0.111 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 0.25 | DNAH7-V827Shift | het unknown | Unknown | Insufficiently evaluated | Prioritization score: 2 Frameshift | |
| 0.25 | DNAH7-R545C | het unknown | 0.498 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: 0.02 (benign) |
| 0.25 | TNFRSF13B-P251L | het unknown | 0.206 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.183 (benign), Testable gene in GeneTests with associated GeneReview |
| 0.25 | FAM38A-L1675Shift | het unknown | Unknown | Insufficiently evaluated | Prioritization score: 2 Frameshift | |
| 0.25 | FAM38A-R407G | het unknown | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: Unknown | |
| 0.25 | FAM38A-V394L | homozygous | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: Unknown | |
| 0.25 | FAM38A-V250A | homozygous | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: Unknown | |
| 0.25 | FAM38A-I83T | homozygous | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: Unknown | |
| 0.25 | 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 | SELP-V640L | het unknown | 0.295 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown |
| 0.25 | SELP-D603N | homozygous | 0.780 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 0.25 | SELP-S331N | het unknown | 0.228 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 0.25 | CASQ2-T66A | het unknown | 0.427 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.25 | RPGRIP1L-D1264N | het unknown | 0.103 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.25 | RPGRIP1L-G1025S | het unknown | 0.171 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.25 | COL11A1-S1547P | het unknown | 0.752 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.25 | COL11A1-P1335L | het unknown | 0.479 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.25 | CC2D1A-E94Shift | het unknown | Unknown | Insufficiently evaluated | Prioritization score: 2 Frameshift | |
| 0.25 | CC2D1A-A906T | het unknown | 0.134 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: 0.001 (benign) |
| 0.25 | MOGS-P293S | het unknown | 0.619 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.25 | MOGS-D239N | het unknown | 0.561 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.031 (benign), Testable gene in GeneTests with associated GeneReview |
| 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 | DBT-S384G | het unknown | 0.869 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.25 | BRIP1-S919P | het unknown | 0.652 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.25 | 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 | LHCGR-N312S | het unknown | 0.573 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: Unknown, Testable gene in GeneTests |
| 0.25 | LHCGR-Q18QLQ | het unknown | Unknown | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests | |
| 0.25 | CNST-L87S | het unknown | 0.865 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 0.25 | CNST-T329Shift | het unknown | Unknown | Insufficiently evaluated | Prioritization score: 2 Frameshift | |
| 0.25 | MCEE-A76V | het unknown | 0.177 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.25 | 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 |
| 0.25 | GLI2-A1156S | het unknown | 0.536 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.25 | GLI2-D1306N | het unknown | 0.595 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.25 | LCE5A-C40Y | het unknown | 0.548 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 0.25 | LCE5A-Q94Shift | het unknown | Unknown | Insufficiently evaluated | Prioritization score: 2 Frameshift | |
| 0.25 | KCNQ4-H455Q | het unknown | 0.156 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.191 (benign), Testable gene in GeneTests with associated GeneReview |
| 0.25 | KISS1R-L364H | het unknown | 0.875 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.25 | TMEM104-V58M | homozygous | 0.546 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 0.25 | TMEM104-L267Shift | het unknown | Unknown | Insufficiently evaluated | Prioritization score: 2 Frameshift | |
| 0.25 | AGL-P1067S | het unknown | 0.125 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: 0.984 (probably damaging), Testable gene in GeneTests with associated GeneReview |
| 0.25 | BC139742-S188N | het unknown | Unknown | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: Unknown | |
| 0.25 | BC139742-V731I | het unknown | Unknown | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: Unknown | |
| 0.25 | BC139742-E818Shift | het unknown | Unknown | Insufficiently evaluated | Prioritization score: 2 Frameshift | |
| 0.25 | STIL-H985R | het unknown | 0.172 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.648 (possibly damaging), Testable gene in GeneTests with associated GeneReview |
| 0.25 | STIL-A86V | het unknown | 0.633 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.25 | TCHH-K1902Q | het unknown | 0.543 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 0.25 | TCHH-L1258V | het unknown | 0.490 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 0.25 | TCHH-L1116V | het unknown | Unknown | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: Unknown | |
| 0.25 | TCHH-C1110Y | het unknown | Unknown | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: Unknown | |
| 0.25 | TCHH-E626Shift | het unknown | Unknown | Insufficiently evaluated | Prioritization score: 2 Frameshift | |
| 0.25 | TCHH-P625A | het unknown | Unknown | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: Unknown | |
| 0.25 | TCHH-V237L | het unknown | 0.044 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: Unknown |
| 0.25 | TCHH-L63R | homozygous | 0.983 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 0.25 | AGT-M268T | het unknown | 0.733 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.25 | DNAI2-V495I | het unknown | 0.258 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.25 | DNAI2-A558T | het unknown | 0.674 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.25 | TNFRSF11A-A192V | het unknown | 0.625 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: Unknown, Testable gene in GeneTests |
| 0.25 | TNFRSF11A-A507T | het unknown | Unknown | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests | |
| 0.25 | KRT14-A94T | het unknown | 0.269 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.25 | KRT14-C63Y | het unknown | 0.976 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.25 | SERPINA1-E400D | het unknown | 0.220 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.001 (benign), Testable gene in GeneTests with associated GeneReview |
| 0.25 | POLA2-G583R | het unknown | 0.118 | Unknown pharmacogenetic | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: 0.024 (benign) |
| 0.25 | GARS-P42A | het unknown | 0.654 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.25 | AHR-R554K | het unknown | 0.315 | Unknown pharmacogenetic | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: Unknown |
| 0.25 | FAM20C-I320Shift | het unknown | Unknown | Insufficiently evaluated | Prioritization score: 2 Frameshift | |
| 0.25 | FAM20C-N564D | homozygous | Unknown | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: Unknown | |
| 0.25 | SBF2-Q1216E | het unknown | 0.118 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.03 (benign), Testable gene in GeneTests with associated GeneReview |
| 0.25 | SLC19A1-H27R | het unknown | 0.447 | Unknown pharmacogenetic | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: 0.002 (benign) |
| 0.25 | GTF2IRD2P1-R561* | het unknown | Unknown | Insufficiently evaluated | Prioritization score: 2 Nonsense mutation | |
| 0.25 | GTF2IRD2P1-A487T | het unknown | Unknown | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: Unknown | |
| 0.25 | GTF2IRD2P1-V397A | het unknown | Unknown | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: Unknown | |
| 0.25 | GTF2IRD2P1-T376A | het unknown | Unknown | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: Unknown | |
| 0.25 | GTF2IRD2P1-F47Y | het unknown | Unknown | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: Unknown | |
| 0.25 | GTF2IRD2P1-C30R | het unknown | Unknown | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: Unknown | |
| 0.25 | C10orf92-S2266G | het unknown | Unknown | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: Unknown | |
| 0.25 | C10orf92-A2057T | het unknown | 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 | het unknown | Unknown | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: Unknown | |
| 0.25 | C10orf92-I191L | het unknown | Unknown | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: Unknown | |
| 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 | TH-V108M | het unknown | 0.416 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.25 | USH1C-E819D | het unknown | 0.408 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.25 | HPS5-L417M | het unknown | 0.150 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: 0.956 (probably damaging), Testable gene in GeneTests with associated GeneReview |
| 0.25 | 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 | SENP6-T345Shift | het unknown | Unknown | Insufficiently evaluated | Prioritization score: 2 Frameshift | |
| 0.25 | SENP6-K795E | het unknown | Unknown | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: Unknown | |
| 0.25 | LMBRD1-D469E | het unknown | 0.393 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.001 (benign), Testable gene in GeneTests with associated GeneReview |
| 0.25 | CTLA4-T17A | het unknown | 0.463 | Unknown pharmacogenetic | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: 0.001 (benign) |
| 0.25 | PTPRJ-Q276P | het unknown | 0.173 | Complex/Other not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.007 (benign) |
| 0.25 | PTPRJ-R326Q | het unknown | 0.249 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: 0.004 (benign) |
| 0.25 | PTPRJ-E872D | het unknown | 0.368 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: 0.047 (benign) |
| 0.25 | PDHX-R23C | homozygous | 0.210 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: Unknown, Testable gene in GeneTests |
| 0.25 | PDHX-F445V | het unknown | Unknown | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests | |
| 0.25 | C6orf103-I310T | het unknown | Unknown | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: Unknown | |
| 0.25 | C6orf103-S1496Shift | het unknown | Unknown | Insufficiently evaluated | Prioritization score: 2 Frameshift | |
| 0.25 | C6orf103-E1621D | homozygous | Unknown | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: Unknown | |
| 0.25 | C6orf103-H1632R | homozygous | Unknown | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: Unknown | |
| 0.25 | LAMA2-G600R | het unknown | Unknown | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests | |
| 0.25 | LAMA2-V1138M | het unknown | 0.142 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: Unknown, Testable gene in GeneTests |
| 0.25 | LAMA2-A2585V | homozygous | 0.594 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: Unknown, Testable gene in GeneTests |
| 0.25 | MCM9-V458Shift | het unknown | Unknown | Insufficiently evaluated | Prioritization score: 2 Frameshift | |
| 0.25 | MCM9-C177S | homozygous | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: Unknown | |
| 0.25 | RSPH4A-R556H | het unknown | 0.203 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: 1.0 (probably damaging), Testable gene in GeneTests with associated GeneReview |
| 0.25 | 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 | NDUFV3-L185Shift | het unknown | Unknown | Insufficiently evaluated | Prioritization score: 2 Frameshift | |
| 0.25 | NDUFV3-D415N | het unknown | 0.612 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 0.25 | CTBP2-Q539E | het unknown | 0.500 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 0.25 | CTBP2-Y455H | het unknown | 0.498 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 0.25 | CTBP2-L392P | het unknown | 0.407 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 0.25 | CTBP2-V234M | het unknown | 0.207 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 0.25 | CTBP2-Q175Shift | het unknown | Unknown | Insufficiently evaluated | Prioritization score: 2 Frameshift | |
| 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 | COL9A3-A435E | het unknown | 0.218 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.568 (possibly damaging), Testable gene in GeneTests with associated GeneReview |
| 0.25 | RET-G691S | het unknown | 0.167 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.16 (benign), Testable gene in GeneTests with associated GeneReview |
| 0.25 | ERCC6-G399D | het unknown | 0.246 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.25 | SEC16A-R1039C | homozygous | 0.113 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 0.25 | SEC16A-L428Shift | het unknown | Unknown | Insufficiently evaluated | Prioritization score: 2 Frameshift | |
| 0.25 | DBH-A318S | het unknown | 0.104 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.001 (benign), Testable gene in GeneTests with associated GeneReview |
| 0.25 | NR_024389-K9N | het unknown | Unknown | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: Unknown | |
| 0.25 | NR_024389-S63Shift | het unknown | Unknown | Insufficiently evaluated | Prioritization score: 2 Frameshift | |
| 0.25 | ROR2-V819I | het unknown | 0.798 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.25 | ROR2-T245A | het unknown | 0.619 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.25 | TLN1-S1227L | het unknown | 0.182 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 0.25 | TLN1-V774A | het unknown | Unknown | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: Unknown | |
| 0.25 | TLN1-S405Shift | het unknown | Unknown | Insufficiently evaluated | Prioritization score: 2 Frameshift | |
| 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 | RP1-N985Y | het unknown | 0.206 | Unknown benign | Low clinical importance, uncertain | Probably benign. One report linked this variant to high triglycerides, but a later paper found a nearby SNP with similar association and suggests that both findings are caused by linkage to an undiscovered causal variant. |
| 0.25 | RP1-C2033Y | het unknown | 0.186 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.957 (probably damaging), Testable gene in GeneTests |
| 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 | PON1-Q192R | het unknown | 0.572 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown |
| 0.25 | COL1A2-P549A | het unknown | 0.907 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.25 | ABCB1-S893A | het unknown | 0.625 | Unknown pharmacogenetic | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: Unknown |
| 0.25 | DSC3-R102K | het unknown | 0.479 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.25 | DSC3-S78T | het unknown | 0.478 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.314 (possibly damaging), 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 | CBR3-V244M | het unknown | 0.398 | Unknown pharmacogenetic | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: 0.014 (benign) |
| 0.25 | SFTPC-T138N | het unknown | 0.172 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.25 | SFTPC-S186N | het unknown | 0.222 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.25 | USP54-Q876Shift | het unknown | Unknown | Insufficiently evaluated | Prioritization score: 2 Frameshift | |
| 0.25 | USP54-R642W | het unknown | Unknown | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: Unknown | |
| 0.25 | DQ580909-R35S | 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 | DQ580909-D196G | homozygous | Unknown | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: Unknown | |
| 0.25 | PDE6C-S270T | het unknown | 0.419 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.25 | TRIB3-Q84R | het unknown | 0.188 | Unknown pharmacogenetic | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: Unknown |
| 0.25 | HADH-L86P | het unknown | 0.859 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.25 | DOK7-G461D | het unknown | 0.128 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.565 (possibly damaging), Testable gene in GeneTests with associated GeneReview |
| 0.25 | EIF2B5-I587V | het unknown | 0.370 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.001 (benign), Testable gene in GeneTests with associated GeneReview |
| 0.25 | TTBK2-L8P | het unknown | 0.560 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.25 | WFS1-V333I | het unknown | 0.889 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.25 | CC2D2A-E376A | het unknown | 0.110 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.47 (possibly damaging), Testable gene in GeneTests with associated GeneReview |
| 0.25 | AIP-R16H | het unknown | Unknown | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests | |
| 0.25 | AIP-Q228K | homozygous | 0.732 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: Unknown, Testable gene in GeneTests |
| 0.25 | AIP-Q307R | homozygous | 1.000 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: Unknown, Testable gene in GeneTests |
| 0.25 | SEC14L4-R341Shift | het unknown | Unknown | Insufficiently evaluated | Prioritization score: 2 Frameshift | |
| 0.25 | SEC14L4-E211K | het unknown | 0.117 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: 0.997 (probably damaging) |
| 0.25 | SEC14L4-V200M | het unknown | 0.123 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: 0.198 (benign) |
| 0.25 | SEC14L4-R124G | het unknown | 0.084 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: 0.22 (possibly damaging) |
| 0.25 | SEC14L4-S3G | het unknown | 0.185 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 0.25 | UGT2B7-Y268H | het unknown | 0.727 | Unknown pharmacogenetic | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: Unknown |
| 0.25 | TLR6-S249P | het unknown | 0.855 | Unknown pharmacogenetic | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: Unknown |
| 0.25 | DRD3-G9S | het unknown | 0.482 | Unknown pharmacogenetic | Insufficiently evaluated | Prioritization score: 1 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 | FANCD2-P714L | het unknown | 0.246 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, 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 | het unknown | 0.801 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 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 | CPS1-T344A | het unknown | 0.583 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.302 (possibly damaging), Testable gene in GeneTests with associated GeneReview |
| 0.25 | CPS1-T1406N | het unknown | 0.263 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.25 | XPC-A499V | het unknown | 0.188 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.25 | BBS4-I354T | het unknown | 0.399 | 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-R460Q | het unknown | 0.206 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: 0.999 (probably damaging) |
| 0.25 | CCDC66-E592Q | het unknown | 0.276 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: 0.082 (benign) |
| 0.25 | CCDC66-S606SP | het unknown | Unknown | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: Unknown | |
| 0.25 | CCDC66-T806I | het unknown | Unknown | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: Unknown | |
| 0.25 | MST1-S565G | het unknown | Unknown | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: Unknown | |
| 0.25 | MST1-R434Shift | het unknown | Unknown | Insufficiently evaluated | Prioritization score: 2 Frameshift | |
| 0.25 | MST1-T294S | het unknown | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: 0.17 (benign) | |
| 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 | KBTBD5-N345S | het unknown | 0.609 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 0.25 | KBTBD5-L618Shift | het unknown | Unknown | Insufficiently evaluated | Prioritization score: 2 Frameshift | |
| 0.25 | KBTBD5-C617R | het unknown | 0.901 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 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 | KHNYN-E189* | het unknown | Unknown | Insufficiently evaluated | Prioritization score: 2 Nonsense mutation | |
| 0.25 | KHNYN-K261T | het unknown | 0.360 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: 0.326 (possibly damaging) |
| 0.25 | KHNYN-W270L | homozygous | 0.961 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 0.25 | MICA-L145V | het unknown | 0.191 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 0.25 | MICA-G198S | het unknown | 0.337 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 0.25 | MICA-T204R | het unknown | 0.008 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: Unknown |
| 0.25 | MICA-I236T | het unknown | 0.570 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 0.25 | MICA-R274Q | het unknown | 0.538 | Unknown pharmacogenetic | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: Unknown |
| 0.25 | MICA-G318Shift | het unknown | 0.163 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 1 Frameshift |
| 0.25 | DSP-R1738Q | het unknown | 0.236 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.295 (possibly damaging), Testable gene in GeneTests with associated GeneReview |
| 0.25 | WWC1-E653Shift | het unknown | Unknown | Insufficiently evaluated | Prioritization score: 2 Frameshift | |
| 0.25 | WWC1-S654A | het unknown | Unknown | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: Unknown | |
| 0.25 | WWC1-MS734IA | het unknown | 0.013 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: Unknown |
| 0.25 | WWC1-E865Del | homozygous | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: Unknown | |
| 0.25 | KRT6C-R182Q | het unknown | 0.281 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.805 (possibly damaging), Testable gene in GeneTests with associated GeneReview |
| 0.25 | DPAGT1-I393V | het unknown | 0.431 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.25 | ALG8-N222S | het unknown | 0.120 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.001 (benign), 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 | PCNT-G136S | het unknown | Unknown | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests | |
| 0.25 | PCNT-G704E | homozygous | 0.855 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: Unknown, Testable gene in GeneTests |
| 0.25 | PCNT-V1038A | homozygous | 0.847 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: Unknown, Testable gene in GeneTests |
| 0.25 | PCNT-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-A2903T | het unknown | 0.056 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: 0.085 (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 | PNPLA1-Y488* | het unknown | Unknown | Insufficiently evaluated | Prioritization score: 2 Nonsense mutation | |
| 0.25 | PNPLA1-T490M | homozygous | 0.232 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 0.25 | PNPLA1-S522P | homozygous | 0.640 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 0.25 | PTPRH-I1076V | het unknown | 0.402 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: 0.97 (probably damaging) |
| 0.25 | PTPRH-Q887* | het unknown | Unknown | Insufficiently evaluated | Prioritization score: 2 Nonsense mutation | |
| 0.25 | PTPRH-K823E | homozygous | 0.998 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 0.25 | PTPRH-H348Y | het unknown | 0.576 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: 0.995 (probably damaging) |
| 0.25 | PTPRH-V243I | het unknown | 0.097 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: 0.02 (benign) |
| 0.25 | KRT5-G543S | het unknown | 0.107 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.25 | KRT5-S528G | het unknown | 0.152 | 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 | F7-A332V | het unknown | Unknown | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests | |
| 0.25 | F7-R391Q | het unknown | 0.139 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: Unknown, Testable gene in GeneTests |
| 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 | AGA-T149S | homozygous | 0.925 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: Unknown, Testable gene in GeneTests |
| 0.25 | AGA-L105I | het unknown | Unknown | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests | |
| 0.25 | VCAN-K1516R | het unknown | 0.480 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.25 | VCAN-R1826H | het unknown | 0.349 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.002 (benign), Testable gene in GeneTests with associated GeneReview |
| 0.25 | VCAN-F2301Y | het unknown | 0.462 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.25 | VCAN-D2937Y | het unknown | 0.352 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.11 (benign), Testable gene in GeneTests with associated GeneReview |
| 0.25 | NEFH-A598Shift | het unknown | Unknown | Insufficiently evaluated | Prioritization score: 2 Frameshift | |
| 0.25 | NEFH-E805A | het unknown | 0.110 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 0.25 | CCDC157-L416Shift | het unknown | Unknown | Insufficiently evaluated | Prioritization score: 2 Frameshift | |
| 0.25 | CCDC157-E417V | het unknown | Unknown | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: Unknown | |
| 0.25 | CCDC157-S587A | homozygous | 0.976 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
| 0.25 | FREM2-S745P | homozygous | 0.994 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: Unknown, Testable gene in GeneTests |
| 0.25 | FREM2-R1840W | het unknown | 0.162 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.999 (probably damaging), Testable gene in GeneTests |
| 0.25 | FREM2-T2326I | homozygous | 0.768 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: Unknown, Testable gene in GeneTests |
| 0.25 | ATP7B-V1140A | het unknown | 0.495 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.25 | ATP7B-R952K | het unknown | 0.481 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0.25 | ATP7B-K832R | het unknown | 0.455 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.461 (possibly damaging), Testable gene in GeneTests with associated GeneReview |
| 0.25 | ATP7B-V456L | het unknown | 0.360 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.006 (benign), Testable gene in GeneTests with associated GeneReview |
| 0.25 | ATP7B-S406A | het unknown | 0.355 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.001 (benign), Testable gene in GeneTests with associated GeneReview |
| 0.25 | SRA1-V110RL | het unknown | 0.360 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
| 0 | SNCA-Y39* | het unknown | Unknown | Insufficiently evaluated | Prioritization score: 4 Nonsense mutation, Testable gene in GeneTests with associated GeneReview | |
| 0 | PAX2-Y273Shift | het unknown | Unknown | Insufficiently evaluated | Prioritization score: 4 Frameshift, Testable gene in GeneTests with associated GeneReview |
Input file format: CGIVAR
Genome build: b37
Genome coverage: 2,766,784,214 bases (96.8% of callable positions, 89.8% of total positions)
Coding region coverage: 32,931,493 bases (98.9% 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