Variant report for hu7A4AD1
- Data source: CGI sample GS01669-DNA_C05 from PGP sample 42408046
- This report: evidence.pgp-hms.org/genomes?26fd9758608044e27bd326a5601aa3f47bdd43b2
- Person ID: hu7A4AD1
- public profile: my.pgp-hms.org/profile/hu7A4AD1
- 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 | LRP5-V667M | High | Uncertain | Uncertain pathogenic Recessive, Carrier (Heterozygous) | 0.0413646 | This variant has been implicated in causing osteoporosis-pseudoglioma syndrome in a recessive manner. The gene is strongly implicated in causing the disease, but an insufficient number of controls means this variant's observation lacks statistical significance. The condition manifests in childhood with early onset osteoporosis and eye problems. | 1 |
2 | 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 |
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 | AMPD1-Q12X | Low | Likely | Likely pathogenic Recessive, Carrier (Heterozygous) | 0.0930643 | Causes Adenosine Deaminase Deficiency in a recessive manner. Most of the time individuals do not report symptoms, but when symptoms do exist they to be post-exercise symptoms of muscle weakness, muscle pain, and getting tired more quickly. | 1 |
5 | 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 |
6 | 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 |
7 | H6PD-R453Q | Low | Uncertain | Uncertain pathogenic Recessive, Carrier (Heterozygous) | 0.308886 | This common variant may have a small pathogenic effect by contributing to cortisone reductase deficiency (a rare abnormality) when homozygous and combined with a serious pathogenic variant. The same authors have tested and ruled out a contribution to polycystic ovary syndrome (similar phenotype, more common disease). | 1 |
8 | 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 |
9 | SP110-L425S | Low | Uncertain | Uncertain pathogenic Unknown, Heterozygous | 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 | ERCC6-R1213G | Low | Uncertain | Uncertain pathogenic Recessive, Carrier (Heterozygous) | 0.196877 | When homozygous, this variant may cause Cockayne Syndrome, which is a severe autosomal-recessive disorder characterized by abnormal early growth and development, abnormal sensitivity to sunlight, and premature aging. Cockayne Syndrome Type I and Type II lead to death in early childhood. Several other variants in the ERCC6 gene are linked to Cockayne Syndrome. This variant may also be linked to age-related macular degeneration like other ERCC6 variants, and has been linked to colorectal cancer in one study. | 1 |
11 | KCNE2-T8A | Low | Uncertain | Uncertain pharmacogenetic Dominant, Heterozygous | 0.0044618 | Found in about 1% of individuals, probably has no clinically significant effect. One group proposed that this variant may cause increased susceptibility to drug-induced arrhythmia, but this conclusion is not supported (and perhaps slightly contradicted) by their reported observations of the variant in clinical cases. | 1 |
12 | 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 |
13 | 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 |
14 | KCNJ11-K23E | Low | Likely | Likely protective Unknown, Heterozygous | 0.738148 | This variant is associated with decreased risk of type 2 diabetes. It is unclear whether this variant has additive effects, or acts in a dominant or recessive manner. Assuming diabetes has a lifetime risk of 36%, we estimate a decreased risk of around 1-2% per copy of this variant. | 1 |
15 | 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 |
16 | IRS2-G1057D | Low | Uncertain | Uncertain protective Unknown, Heterozygous | 0.232615 | a.k.a Gly1057Asp, insulin receptor substrate-2 IRS2. The rs1805097(G) allele is associated with the Gly, and the (A) allele with Asp. A longevity study concluded that rs1805097(A;A) individuals were about twice as likely to live over 85 y/o (odds ratio 2.03, CI:1.39-2.99, p = .0003). | 1 |
17 | BRCA2-T1915M | Low | Uncertain | Uncertain protective Unknown, Heterozygous | 0.0205429 | Serrano-Fernández et al. found this variant to be associated with a modest (OR = 1.61) but significant (P = 0.0007) reduction in breast cancer risk. | 1 |
18 | PMS2-P470S | Low | Likely | Likely benign Unknown, Heterozygous | 0.374884 | Benign, common variant. | 1 |
19 | EFHC1-R182H | Low | Likely | Likely benign Unknown, Heterozygous | 0.0439673 | Probably benign. OMIM appears to incorrectly interpret literature as linking this variant to juvenile myoclonic epilepsy; the authors report it as a polymorphism. | 1 |
20 | CACNA1S-L458H | Low | Likely | Likely benign Unknown, Heterozygous | 0.27282 | Common polymorphism | 1 |
21 | PKD1-A4059V | Low | Likely | Likely benign Unknown, Heterozygous | 0.0570413 | Probably benign. | 1 |
22 | FANCI-P55L | Low | Likely | Likely benign Unknown, Heterozygous | 0.0507529 | Probably benign. | 1 |
23 | 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 |
24 | TPCN2-G734E | Low | Uncertain | Uncertain benign Unknown, Heterozygous | 0.286166 | Pigmentation allele. | 1 |
25 | COL7A1-P1277L | Low | Uncertain | Uncertain benign Unknown, Heterozygous | 0.0407139 | Polymorphism, presumed benign. | 1 |
26 | MAPT-Q230R | Low | Uncertain | Uncertain benign Unknown, Heterozygous | 0.0420019 | Common polymorphism. | 1 |
27 | GALT-N314D | Low | Uncertain | Uncertain benign Unknown, Heterozygous | 0.0716676 | This variant has an allele frequency of ~8% and is ancestral to "Duarte" / "Duarte 2" and "Duarte 1"/"Los Angeles" galactosemia variants. This variant is evolutionarily ancestral, and in vitro studies fail to support an impact of this variant on enzyme activity. Carney et al. instead implicate a 4 base deletion on the 5' of the GALT gene as being causal and linked to this variant. Galactosemia is typically screened and detected in infants and causes early, severe but nonspecific symptoms (digestive problems, lethargy, failure to thrive). | 1 |
28 | PHYH-P29S | Low | Uncertain | Uncertain benign Unknown, Heterozygous | 0.155326 | Probably benign. This variant was implicated as causing Refsum Disease in a recessive manner, but a subsequent publication noted that all instances were linked with other explanatory mutations. The high allele frequency of this variant in the population (7-13%) contradicts a pathogenic hypothesis. | 1 |
29 | MAPT-R370W | Low | Uncertain | Uncertain benign Unknown, Heterozygous | 0.155549 | Probably benign. | 1 |
30 | CD19-R514H | Low | Uncertain | Uncertain benign Unknown, Heterozygous | 0.0482432 | Presumed benign. | 1 |
31 | APOB-Y1422C | Low | Uncertain | Uncertain benign Unknown, Homozygous | 0.999628 | This position is almost certainly an error in the HG18 reference sequence. | 1 |
32 | PCSK9-G670E | Low | Uncertain | Uncertain benign Unknown, Homozygous | 0.888269 | This variant is likely benign. | 1 |
33 | AMPD1-P48L | Low | Uncertain | Uncertain benign Unknown, Heterozygous | 0.0940695 | Probably benign, ancestral to15173240 pathogenic Q12X mutation. | 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 | RAPSN-R58C | Low | Uncertain | Uncertain benign Unknown, Heterozygous | 0.0778026 | Reported as non-pathogenic polymorphism. | 1 |
36 | PTCH1-P1315L | Low | Uncertain | Uncertain benign Unknown, Homozygous | 0.29631 | Common polymorphism, presumed benign. | 1 |
37 | 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 |
Row number | Variant | Prioritization score | Allele freq | Num of articles | Zygosity and Prioritization Score Reasons | Sufficient |
---|
Exome coverage: 32857423 / 33212919 = 98.93%
Row number | Gene | Chromosome | Coverage | Missing | Length | Missing regions |
---|---|---|---|---|---|---|
1 | AGRN | 1 | 0.95845552297165 | 255 | 6138 | 955553-955628, 955634-955668, 976689-976690, 981861, 983605-983745 |
2 | GABRD | 1 | 0.96173657100809 | 52 | 1359 | 1950863-1950870, 1950880-1950885, 1950889-1950926 |
3 | ESPN | 1 | 0.9692007797271 | 79 | 2565 | 6488386-6488392, 6500686-6500715, 6500759-6500765, 6500864-6500868, 6505851-6505856, 6505914-6505937 |
4 | PLEKHG5 | 1 | 0.95609909062402 | 140 | 3189 | 6534091-6534161, 6534187-6534197, 6534511-6534564, 6534602-6534604, 6534645 |
5 | KIF1B | 1 | 0.99868247694335 | 7 | 5313 | 10357019, 10357022-10357025, 10425584-10425585 |
6 | PEX14 | 1 | 0.99559082892416 | 5 | 1134 | 10684443, 10684447-10684450 |
7 | TARDBP | 1 | 0.99116465863454 | 11 | 1245 | 11082356-11082362, 11082519-11082522 |
8 | PLOD1 | 1 | 0.99954212454212 | 1 | 2184 | 11994871 |
9 | CLCNKA | 1 | 0.98643410852713 | 28 | 2064 | 16349191-16349197, 16354391-16354397, 16358268-16358274, 16360141-16360147 |
10 | CLCNKB | 1 | 0.99660852713178 | 7 | 2064 | 16378851-16378857 |
11 | ATP13A2 | 1 | 0.99633079311318 | 13 | 3543 | 17313597-17313599, 17313610-17313613, 17313616-17313621 |
12 | PINK1 | 1 | 0.99942726231386 | 1 | 1746 | 20960090 |
13 | HSPG2 | 1 | 0.99521857923497 | 63 | 13176 | 22263648-22263710 |
14 | WNT4 | 1 | 0.91003787878788 | 95 | 1056 | 22447955-22447972, 22469339-22469415 |
15 | SEPN1 | 1 | 0.88729016786571 | 188 | 1668 | 26126722-26126904, 26139178-26139182 |
16 | KCNQ4 | 1 | 0.99952107279693 | 1 | 2088 | 41284276 |
17 | STIL | 1 | 0.99870700801655 | 5 | 3867 | 47726196, 47767321-47767324 |
18 | DHCR24 | 1 | 0.99548678272083 | 7 | 1551 | 55352590, 55352597-55352598, 55352601-55352602, 55352608-55352609 |
19 | ALG6 | 1 | 0.99869281045752 | 2 | 1530 | 63881587-63881588 |
20 | LEPR | 1 | 0.99942824471126 | 2 | 3498 | 66067583, 66083704 |
21 | GLMN | 1 | 0.99495798319328 | 9 | 1785 | 92732049, 92763035-92763042 |
22 | RPL5 | 1 | 0.97874720357942 | 19 | 894 | 93307372-93307373, 93307404-93307420 |
23 | DPYD | 1 | 0.98927875243665 | 33 | 3078 | 97847949-97847950, 97847953, 97847963, 97847973-97847988, 97847997-97848000, 98144720, 98348859-98348865, 98348885 |
24 | AGL | 1 | 0.99412915851272 | 27 | 4599 | 100327909-100327921, 100336019-100336032 |
25 | DBT | 1 | 0.99792960662526 | 3 | 1449 | 100681754-100681755, 100701006 |
26 | COL11A1 | 1 | 0.96041781198461 | 216 | 5457 | 103354138, 103355044-103355050, 103363697-103363721, 103364222-103364329, 103364497-103364498, 103364530-103364550, 103405913, 103405917, 103412456, 103412459-103412464, 103427780, 103435775-103435778, 103435805, 103435808, 103435811-103435814, 103435817-103435828, 103449694-103449701, 103470164-103470168, 103471851, 103471854-103471859 |
27 | CASQ2 | 1 | 0.99833333333333 | 2 | 1200 | 116244024-116244025 |
28 | NOTCH2 | 1 | 0.97963861920173 | 151 | 7416 | 120539664-120539714, 120539742, 120539778-120539784, 120539913-120539919, 120539933-120539955, 120548025, 120548051, 120548055, 120548091-120548097, 120572544-120572575, 120572609-120572610, 120611961-120611967, 120612000-120612010 |
29 | FLG | 1 | 0.99532250123092 | 57 | 12186 | 152276446-152276493, 152278049, 152278434, 152279403-152279409 |
30 | NTRK1 | 1 | 0.9995817649519 | 1 | 2391 | 156830742 |
31 | KCNJ10 | 1 | 0.99824561403509 | 2 | 1140 | 160012062-160012063 |
32 | MPZ | 1 | 0.98712998712999 | 10 | 777 | 161276183-161276192 |
33 | F5 | 1 | 0.99895131086142 | 7 | 6675 | 169510337-169510343 |
34 | DARS2 | 1 | 0.99948400412797 | 1 | 1938 | 173814391 |
35 | HMCN1 | 1 | 0.99994085639934 | 1 | 16908 | 185932957 |
36 | PDC | 1 | 0.99460188933873 | 4 | 741 | 186418588-186418591 |
37 | CFH | 1 | 0.99512987012987 | 18 | 3696 | 196658679, 196658728-196658744 |
38 | CFHR1 | 1 | 0.89224572004028 | 107 | 993 | 196794724-196794758, 196797217-196797248, 196797256-196797295 |
39 | CFHR5 | 1 | 0.99181286549708 | 14 | 1710 | 196953120-196953121, 196953171, 196963242-196963249, 196967402-196967404 |
40 | ASPM | 1 | 0.99702894383745 | 31 | 10434 | 197057507-197057528, 197104293-197104300, 197113088 |
41 | CD46 | 1 | 0.99166666666667 | 10 | 1200 | 207943692-207943700, 207956639 |
42 | USH2A | 1 | 0.99756550707925 | 38 | 15609 | 215916519-215916522, 215916525-215916544, 215916557-215916563, 215916573-215916574, 216061812, 216061819, 216496868, 216496876-216496877 |
43 | GJC2 | 1 | 0.86060606060606 | 184 | 1320 | 228345581-228345586, 228345594, 228345600-228345604, 228345612-228345618, 228345621, 228345755, 228345772-228345791, 228345794, 228345797-228345804, 228345942-228345946, 228346034, 228346059-228346090, 228346100-228346142, 228346161-228346164, 228346353-228346369, 228346375-228346382, 228346385-228346387, 228346392-228346396, 228346400-228346413, 228346425, 228346431 |
44 | ACTA1 | 1 | 0.99911816578483 | 1 | 1134 | 229567921 |
45 | LYST | 1 | 0.99254778186919 | 85 | 11406 | 235875439-235875444, 235896818, 235896830, 235897798-235897801, 235926096, 235944184-235944209, 235944240, 235944270, 235944273, 235944285, 235944315, 235944319, 235950528-235950562, 235956856, 235969166-235969169 |
46 | MTR | 1 | 0.99921011058452 | 3 | 3798 | 237013696-237013697, 237060354 |
47 | RYR2 | 1 | 0.99590713902308 | 61 | 14904 | 237656358, 237656361, 237656381-237656385, 237765342-237765345, 237821244-237821260, 237821271-237821303 |
48 | FH | 1 | 0.99478147423353 | 8 | 1533 | 241661180-241661185, 241663860, 241669403 |
49 | DCLRE1C | 10 | 0.99518999519 | 10 | 2079 | 14970027-14970030, 14970035-14970040 |
50 | CUBN | 10 | 0.99889624724062 | 12 | 10872 | 16932489-16932499, 16960714 |
51 | PTF1A | 10 | 0.98581560283688 | 14 | 987 | 23481898-23481907, 23481912-23481913, 23481916, 23481938 |
52 | MYO3A | 10 | 0.99773242630385 | 11 | 4851 | 26385312-26385313, 26385316-26385320, 26500878-26500881 |
53 | PDSS1 | 10 | 0.97836538461538 | 27 | 1248 | 26994215-26994236, 26994281, 26994293-26994294, 27035296-27035297 |
54 | MASTL | 10 | 0.9935532802427 | 17 | 2637 | 27448627-27448640, 27456171-27456173 |
55 | RET | 10 | 0.99581464872945 | 14 | 3345 | 43572746-43572756, 43572763-43572765 |
56 | ERCC6 | 10 | 0.99799196787149 | 9 | 4482 | 50681027, 50740814-50740817, 50740820-50740822, 50740828 |
57 | CHAT | 10 | 0.93546951490877 | 145 | 2247 | 50822275-50822417, 50822420, 50872823 |
58 | PCDH15 | 10 | 0.97911360163016 | 123 | 5889 | 55587194-55587237, 55587245-55587251, 55719539, 55943249-55943252, 55973729-55973730, 55973743, 55973761, 56128910-56128939, 56138647-56138670, 56138673-56138681 |
59 | PSAP | 10 | 0.98984126984127 | 16 | 1575 | 73579575-73579590 |
60 | BMPR1A | 10 | 0.99937460913071 | 1 | 1599 | 88683146 |
61 | HPS1 | 10 | 0.99477682811016 | 11 | 2106 | 100177380-100177382, 100183557-100183564 |
62 | SUFU | 10 | 0.99931271477663 | 1 | 1455 | 104263974 |
63 | CYP17A1 | 10 | 0.99803536345776 | 3 | 1527 | 104592791-104592792, 104592795 |
64 | SHOC2 | 10 | 0.99828473413379 | 3 | 1749 | 112769046-112769048 |
65 | HTRA1 | 10 | 0.95356895356895 | 67 | 1443 | 124221169-124221196, 124221202-124221217, 124221219, 124221229, 124221238-124221249, 124221293, 124221297-124221298, 124221466-124221467, 124221477-124221479, 124221483 |
66 | SLC25A22 | 11 | 0.99485596707819 | 5 | 972 | 792621-792625 |
67 | PNPLA2 | 11 | 0.96171617161716 | 58 | 1515 | 819719, 819721-819736, 819743, 819762, 819788-819820, 819852-819854, 819862-819864 |
68 | CTSD | 11 | 0.98789346246973 | 15 | 1239 | 1785042, 1785047-1785051, 1785056-1785061, 1785065-1785066, 1785069 |
69 | TH | 11 | 0.99746031746032 | 4 | 1575 | 2191924-2191925, 2191929-2191930 |
70 | CDKN1C | 11 | 0.7739221871714 | 215 | 951 | 2905938-2905973, 2905976, 2905979, 2906018-2906042, 2906064-2906135, 2906144-2906203, 2906222-2906240, 2906403 |
71 | HBD | 11 | 0.98423423423423 | 7 | 444 | 5255652-5255658 |
72 | SBF2 | 11 | 0.99981981981982 | 1 | 5550 | 10014052 |
73 | ABCC8 | 11 | 0.99978929624947 | 1 | 4746 | 17452427 |
74 | USH1C | 11 | 0.99185185185185 | 22 | 2700 | 17531171-17531182, 17531186, 17531208, 17531309, 17531313-17531319 |
75 | ANO5 | 11 | 0.96644784828592 | 92 | 2742 | 22249060-22249063, 22276960, 22276979-22276985, 22276989-22277068 |
76 | WT1 | 11 | 0.9993564993565 | 1 | 1554 | 32456655 |
77 | PDHX | 11 | 0.99933598937583 | 1 | 1506 | 34991791 |
78 | SERPING1 | 11 | 0.99467731204258 | 8 | 1503 | 57365747, 57365750-57365755, 57365757 |
79 | SLC22A12 | 11 | 0.99759326113117 | 4 | 1662 | 64367266-64367268, 64367274 |
80 | CABP4 | 11 | 0.9975845410628 | 2 | 828 | 67222957, 67222960 |
81 | LRP5 | 11 | 0.98700495049505 | 63 | 4848 | 68080191-68080242, 68080256, 68080262-68080270, 68216526 |
82 | IGHMBP2 | 11 | 0.99832327297116 | 5 | 2982 | 68704532-68704535, 68704540 |
83 | MYO7A | 11 | 0.99939831528279 | 4 | 6648 | 76922292-76922295 |
84 | TYR | 11 | 0.99433962264151 | 9 | 1590 | 88961025-88961033 |
85 | DYNC2H1 | 11 | 0.98539976825029 | 189 | 12945 | 102984275-102984282, 102984290, 102984308, 102984316, 102984323, 102991468, 102991486-102991490, 102991498-102991506, 102991678, 102991707, 103006547-103006554, 103006668, 103029447-103029450, 103029453-103029474, 103036771-103036777, 103043822-103043825, 103043832-103043846, 103043915-103043919, 103043933-103043936, 103044006-103044007, 103049830, 103052517-103052521, 103052530-103052535, 103059239-103059251, 103059263-103059264, 103059297, 103059300, 103059303, 103059308, 103062248-103062252, 103062272, 103062323-103062348, 103062923, 103062926, 103070054, 103070058-103070061, 103091464, 103093694, 103093719-103093724, 103107185, 103130623-103130626, 103194617, 103194623-103194625, 103349892 |
86 | ACAT1 | 11 | 0.99376947040498 | 8 | 1284 | 107992377-107992384 |
87 | ATM | 11 | 0.9860429615091 | 128 | 9171 | 108098371-108098382, 108126942-108126947, 108126958-108126967, 108126978-108127067, 108196139-108196143, 108196156-108196157, 108196161-108196163 |
88 | RDX | 11 | 0.99942922374429 | 1 | 1752 | 110124695 |
89 | DLAT | 11 | 0.99074074074074 | 18 | 1944 | 111910012-111910029 |
90 | CACNA2D4 | 12 | 0.99502050380785 | 17 | 3414 | 1902897-1902913 |
91 | CACNA1C | 12 | 0.9961896052431 | 25 | 6561 | 2622069-2622086, 2794934-2794940 |
92 | VWF | 12 | 0.98625918028903 | 116 | 8442 | 6122647-6122650, 6125338-6125344, 6127532-6127538, 6127655-6127661, 6127782-6127788, 6128339-6128345, 6128449-6128451, 6128784-6128790, 6131925-6131932, 6131955-6131982, 6132003-6132033 |
93 | TNFRSF1A | 12 | 0.99926900584795 | 1 | 1368 | 6439007 |
94 | ATN1 | 12 | 0.98376714245732 | 58 | 3573 | 7045600, 7045603-7045604, 7045888-7045942 |
95 | PEX5 | 12 | 0.99367088607595 | 12 | 1896 | 7351618-7351629 |
96 | GYS2 | 12 | 0.97632575757576 | 50 | 2112 | 21712025-21712074 |
97 | ABCC9 | 12 | 0.99763440860215 | 11 | 4650 | 21991036-21991037, 21998565, 22063772-22063777, 22063804, 22063807 |
98 | DNM1L | 12 | 0.99728629579376 | 6 | 2211 | 32866242, 32866245-32866246, 32866272, 32866290, 32883961 |
99 | KIF21A | 12 | 0.99638989169675 | 18 | 4986 | 39709031, 39709035-39709042, 39719683, 39745579, 39745587-39745593 |
100 | LRRK2 | 12 | 0.97376054852321 | 199 | 7584 | 40634334, 40687372-40687394, 40696624-40696637, 40697750-40697751, 40713853-40713877, 40713898-40713917, 40761446-40761559 |
101 | IRAK4 | 12 | 0.99855386840202 | 2 | 1383 | 44171512, 44171523 |
102 | VDR | 12 | 0.99532710280374 | 6 | 1284 | 48251306-48251308, 48272879-48272881 |
103 | MLL2 | 12 | 0.99891657638137 | 18 | 16614 | 49427265-49427268, 49427659-49427661, 49427670-49427676, 49431291-49431293, 49431299 |
104 | TUBA1A | 12 | 0.8969298245614 | 47 | 456 | 49522195-49522241 |
105 | KRT81 | 12 | 0.9901185770751 | 15 | 1518 | 52682999-52683005, 52684021-52684027, 52685096 |
106 | KRT86 | 12 | 0.98973305954825 | 15 | 1461 | 52695851-52695857, 52696927-52696933, 52697952 |
107 | KRT6B | 12 | 0.94336283185841 | 96 | 1695 | 52841338-52841344, 52843578-52843584, 52844243, 52844246, 52844265, 52844378-52844395, 52845397-52845403, 52845527-52845534, 52845598-52845604, 52845662-52845686, 52845713-52845719, 52845798-52845804 |
108 | KRT6C | 12 | 0.96342182890855 | 62 | 1695 | 52864945-52864951, 52865905, 52865918, 52865921, 52865925, 52866038-52866055, 52867056-52867062, 52867190, 52867252-52867263, 52867324, 52867339-52867342, 52867456-52867463 |
109 | KRT6A | 12 | 0.94985250737463 | 85 | 1695 | 52881868-52881874, 52882264-52882270, 52882312-52882318, 52885494-52885499, 52886553-52886559, 52886638-52886644, 52886703-52886714, 52886772-52886796, 52886908-52886914 |
110 | KRT5 | 12 | 0.99492385786802 | 9 | 1773 | 52908743-52908746, 52908889-52908893 |
111 | KRT1 | 12 | 0.99173126614987 | 16 | 1935 | 53069321-53069327, 53070157, 53072484, 53072487-53072493 |
112 | GNS | 12 | 0.99638336347197 | 6 | 1659 | 65141671-65141672, 65141677-65141679, 65141683 |
113 | LEMD3 | 12 | 0.99780701754386 | 6 | 2736 | 65612348-65612350, 65612356-65612357, 65632470 |
114 | CEP290 | 12 | 0.99112903225806 | 66 | 7440 | 88443060, 88443066, 88449493-88449494, 88452741-88452748, 88462339, 88462381-88462383, 88472943-88472949, 88472956-88472966, 88472988, 88496773-88496774, 88496784, 88505472, 88505494, 88513947, 88514008-88514011, 88520093-88520107, 88522731, 88522743, 88522777-88522778, 88522785, 88534794 |
115 | SLC17A8 | 12 | 0.99887005649718 | 2 | 1770 | 100774582, 100774588 |
116 | PAH | 12 | 0.99926416482708 | 1 | 1359 | 103288573 |
117 | ATXN2 | 12 | 0.97640791476408 | 93 | 3942 | 111895071-111895074, 112036740-112036746, 112036749, 112036757-112036817, 112036895-112036906, 112036926-112036931, 112036934, 112037072 |
118 | TBX5 | 12 | 0.99935773924213 | 1 | 1557 | 114804121 |
119 | HNF1A | 12 | 0.99419831223629 | 11 | 1896 | 121434381-121434391 |
120 | PUS1 | 12 | 0.99922118380062 | 1 | 1284 | 132426014 |
121 | SACS | 13 | 0.99970887918486 | 4 | 13740 | 23915152-23915155 |
122 | BRCA2 | 13 | 0.99961002242371 | 4 | 10257 | 32920966-32920968, 32920975 |
123 | RB1 | 13 | 0.99390025116613 | 17 | 2787 | 48941675-48941676, 48947576-48947583, 48947586-48947588, 48954215, 48954218-48954220 |
124 | EDNRB | 13 | 0.99924755455229 | 1 | 1329 | 78472454 |
125 | ZIC2 | 13 | 0.91682301438399 | 133 | 1599 | 100634400-100634407, 100634596-100634608, 100634622, 100634625, 100635004-100635040, 100637707, 100637715-100637717, 100637723-100637744, 100637798, 100637817-100637861, 100637898 |
126 | PCCA | 13 | 0.99954275262917 | 1 | 2187 | 100925526 |
127 | ERCC5 | 13 | 0.99834866713848 | 7 | 4239 | 103468803-103468807, 103468813-103468814 |
128 | PABPN1 | 14 | 0.8599348534202 | 129 | 921 | 23790695, 23790697-23790699, 23790701-23790710, 23790713-23790718, 23790726, 23790741-23790744, 23790752, 23790837-23790852, 23790858-23790896, 23790910-23790934, 23790959, 23790967-23790985, 23790989, 23790996-23790997 |
129 | TGM1 | 14 | 0.9918500407498 | 20 | 2454 | 24724252-24724271 |
130 | FOXG1 | 14 | 0.81224489795918 | 276 | 1470 | 29236673-29236948 |
131 | CFL2 | 14 | 0.98203592814371 | 9 | 501 | 35182334-35182342 |
132 | NKX2-1 | 14 | 0.99751243781095 | 3 | 1206 | 36986839, 36988374, 36988377 |
133 | FANCM | 14 | 0.98796160728811 | 74 | 6147 | 45623907, 45623911-45623913, 45623917-45623922, 45623950-45623954, 45623976-45624025, 45644387-45644393, 45653037, 45667913 |
134 | SYNE2 | 14 | 0.9979733642154 | 42 | 20724 | 64447737-64447740, 64447749-64447754, 64457198-64457209, 64457681, 64457778-64457783, 64494275-64494279, 64522840, 64522843, 64556364-64556366, 64556379-64556380, 64556397 |
135 | ZFYVE26 | 14 | 0.9989501312336 | 8 | 7620 | 68241758, 68244313-68244319 |
136 | PSEN1 | 14 | 0.99928774928775 | 1 | 1404 | 73659462 |
137 | MLH3 | 14 | 0.99977074736359 | 1 | 4362 | 75506697 |
138 | VIPAR | 14 | 0.99595141700405 | 6 | 1482 | 77894726, 77894754-77894758 |
139 | GALC | 14 | 0.99902818270165 | 2 | 2058 | 88448554-88448555 |
140 | SPATA7 | 14 | 0.99944444444444 | 1 | 1800 | 88859794 |
141 | TTC8 | 14 | 0.99289405684755 | 11 | 1548 | 89305799-89305800, 89305845-89305846, 89305849-89305854, 89305898 |
142 | ATXN3 | 14 | 0.99447513812155 | 6 | 1086 | 92537355-92537359, 92537371 |
143 | VRK1 | 14 | 0.95549958018472 | 53 | 1191 | 97304102-97304154 |
144 | AMN | 14 | 0.98237885462555 | 24 | 1362 | 103396597-103396600, 103396610-103396616, 103396646-103396648, 103396813-103396822 |
145 | INF2 | 14 | 0.92186666666667 | 293 | 3750 | 105173758-105173776, 105173779, 105173856-105174128 |
146 | NIPA1 | 15 | 0.82020202020202 | 178 | 990 | 23086234-23086411 |
147 | UBE3A | 15 | 0.99733637747336 | 7 | 2628 | 25616251-25616257 |
148 | TRPM1 | 15 | 0.99709060681629 | 14 | 4812 | 31294792-31294795, 31320551, 31320565-31320572, 31320575 |
149 | SLC12A6 | 15 | 0.99971039675644 | 1 | 3453 | 34549847 |
150 | SPRED1 | 15 | 0.99325842696629 | 9 | 1335 | 38614553-38614559, 38614565-38614566 |
151 | CHST14 | 15 | 0.98496905393457 | 17 | 1131 | 40763452, 40763517-40763521, 40763524, 40763527-40763534, 40763538, 40763784 |
152 | CDAN1 | 15 | 0.99511400651466 | 18 | 3684 | 43017763-43017766, 43018340-43018346, 43019917, 43019923-43019928 |
153 | TTBK2 | 15 | 0.99759036144578 | 9 | 3735 | 43067848-43067855, 43109262 |
154 | STRC | 15 | 0.97147147147147 | 152 | 5328 | 43896303-43896312, 43897537-43897560, 43900150-43900156, 43902598-43902614, 43907736-43907752, 43908275-43908301, 43910436-43910444, 43910863-43910903 |
155 | STRC | 15 | 0.98153846153846 | 36 | 1950 | 44007206-44007214, 44007737-44007763 |
156 | SPG11 | 15 | 0.99536279323513 | 34 | 7332 | 44912484, 44941090-44941094, 44941100-44941127 |
157 | DUOX2 | 15 | 0.99870884441575 | 6 | 4647 | 45398353-45398358 |
158 | SLC12A1 | 15 | 0.99878787878788 | 4 | 3300 | 48577436-48577439 |
159 | FBN1 | 15 | 0.99988393686165 | 1 | 8616 | 48737602 |
160 | SCG3 | 15 | 0.99502487562189 | 7 | 1407 | 51974747-51974753 |
161 | HCN4 | 15 | 0.98338870431894 | 60 | 3612 | 73614880-73614912, 73614925-73614940, 73616147, 73616168-73616173, 73659861-73659864 |
162 | RPS17 | 15 | 0.9828431372549 | 7 | 408 | 82823387-82823393 |
163 | RPS17 | 15 | 0.9828431372549 | 7 | 408 | 83207730-83207736 |
164 | POLG | 15 | 0.99166666666667 | 31 | 3720 | 89876824-89876842, 89876853-89876864 |
165 | MESP2 | 15 | 0.98994974874372 | 12 | 1194 | 90320135-90320146 |
166 | BLM | 15 | 0.99130230371415 | 37 | 4254 | 91310195, 91337405-91337411, 91337416, 91337476-91337480, 91337503-91337506, 91337518, 91337522-91337525, 91337529-91337538, 91337549, 91337562-91337564 |
167 | VPS33B | 15 | 0.99137001078749 | 16 | 1854 | 91542213-91542228 |
168 | IGF1R | 15 | 0.9995126705653 | 2 | 4104 | 99473522, 99473525 |
169 | HBZ | 16 | 0.95571095571096 | 19 | 429 | 203967-203969, 204271-204276, 204299-204302, 204312-204317 |
170 | CLCN7 | 16 | 0.98552522746071 | 35 | 2418 | 1524879-1524913 |
171 | IGFALS | 16 | 0.99844720496894 | 3 | 1932 | 1842374-1842376 |
172 | GFER | 16 | 0.98381877022654 | 10 | 618 | 2034285-2034290, 2034308, 2034355, 2034358, 2034364 |
173 | PKD1 | 16 | 0.95763630731103 | 547 | 12912 | 2140988-2140989, 2141060, 2141063, 2141081-2141084, 2141164-2141175, 2142550-2142557, 2147946-2147952, 2149876, 2149965, 2150216-2150222, 2150278-2150284, 2152384-2152409, 2153592-2153598, 2153670-2153691, 2153699-2153741, 2153767, 2154534-2154576, 2154625, 2154631-2154641, 2155338, 2155906-2155931, 2156442-2156450, 2156519-2156526, 2156894-2156907, 2159402-2159408, 2159466-2159481, 2159577-2159584, 2159712-2159718, 2159989-2159999, 2160134-2160140, 2160721, 2161824-2161837, 2164563-2164569, 2165478-2165496, 2167848-2167879, 2167968-2168000, 2168056-2168075, 2168209-2168215, 2185515-2185538, 2185579-2185618, 2185660-2185690 |
174 | CREBBP | 16 | 0.99058534588621 | 69 | 7329 | 3778407-3778412, 3778433-3778442, 3778445-3778446, 3778450-3778461, 3778813-3778823, 3779478, 3831230-3831233, 3831240-3831260, 3929890-3929891 |
175 | ALG1 | 16 | 0.95627240143369 | 61 | 1395 | 5128826-5128870, 5131019-5131027, 5134813-5134819 |
176 | ABCC6 | 16 | 0.9949024822695 | 23 | 4512 | 16313509-16313515, 16315668-16315683 |
177 | OTOA | 16 | 0.99590643274854 | 14 | 3420 | 21742176-21742182, 21756233-21756239 |
178 | OTOA | 16 | 0.9929718875502 | 7 | 996 | 22572356-22572362 |
179 | SCNN1B | 16 | 0.99635985439418 | 7 | 1923 | 23360059-23360065 |
180 | CLN3 | 16 | 0.99924069855733 | 1 | 1317 | 28497703 |
181 | ATP2A1 | 16 | 0.99933466400532 | 2 | 3006 | 28911967-28911968 |
182 | PHKG2 | 16 | 0.92219492219492 | 95 | 1221 | 30760142-30760236 |
183 | FUS | 16 | 0.99936748893106 | 1 | 1581 | 31195303 |
184 | SALL1 | 16 | 0.99647798742138 | 14 | 3975 | 51175660-51175662, 51175667-51175674, 51175685, 51175689, 51185090 |
185 | RPGRIP1L | 16 | 0.99417426545086 | 23 | 3948 | 53653104-53653117, 53672283, 53672309-53672315, 53672319 |
186 | COQ9 | 16 | 0.99686520376176 | 3 | 957 | 57485056-57485058 |
187 | GPR56 | 16 | 0.99467054263566 | 11 | 2064 | 57689311-57689321 |
188 | HSD11B2 | 16 | 0.93185550082102 | 83 | 1218 | 67465152, 67465214-67465291, 67469997, 67470000-67470002 |
189 | LCAT | 16 | 0.99848828420257 | 2 | 1323 | 67973976, 67973979 |
190 | COG8 | 16 | 0.99456226209897 | 10 | 1839 | 69373231-69373240 |
191 | GCSH | 16 | 0.99808429118774 | 1 | 522 | 81116504 |
192 | MLYCD | 16 | 0.95681511470985 | 64 | 1482 | 83932810-83932816, 83932827-83932841, 83932847-83932860, 83932868, 83932871, 83932874-83932877, 83932886-83932894, 83932990, 83933092, 83933094-83933101, 83933106, 83933112-83933113 |
193 | LRRC50 | 16 | 0.97750229568411 | 49 | 2178 | 84199440-84199488 |
194 | FOXF1 | 16 | 0.99736842105263 | 3 | 1140 | 86544211-86544213 |
195 | JPH3 | 16 | 0.99955496217178 | 1 | 2247 | 87723977 |
196 | SPG7 | 16 | 0.99455611390285 | 13 | 2388 | 89579413-89579425 |
197 | FANCA | 16 | 0.99885531135531 | 5 | 4368 | 89842169-89842173 |
198 | TUBB3 | 16 | 0.99482631189948 | 7 | 1353 | 90002185-90002190, 90002201 |
199 | GP1BA | 17 | 0.99947916666667 | 1 | 1920 | 4837220 |
200 | PITPNM3 | 17 | 0.99965811965812 | 1 | 2925 | 6358752 |
201 | GUCY2D | 17 | 0.99124396135266 | 29 | 3312 | 7906414, 7906417-7906422, 7906426, 7906450-7906454, 7906480-7906486, 7906492-7906500 |
202 | HES7 | 17 | 0.95427728613569 | 31 | 678 | 8024987, 8025000-8025003, 8025662-8025687 |
203 | MYH2 | 17 | 0.9991417782355 | 5 | 5826 | 10430096-10430099, 10446431 |
204 | ELAC2 | 17 | 0.99758162031439 | 6 | 2481 | 12896189-12896194 |
205 | COX10 | 17 | 0.98423423423423 | 21 | 1332 | 13980124-13980137, 14095345-14095351 |
206 | RAI1 | 17 | 0.99370739381227 | 36 | 5721 | 17697094-17697111, 17697115-17697129, 17699993-17699995 |
207 | MYO15A | 17 | 0.99669593127537 | 35 | 10593 | 18024013-18024022, 18024030-18024042, 18024210-18024215, 18049343-18049347, 18057113 |
208 | UNC119 | 17 | 0.91977869986169 | 58 | 723 | 26879356-26879364, 26879367-26879373, 26879379, 26879382, 26879393-26879394, 26879397-26879399, 26879413-26879417, 26879420-26879434, 26879448-26879452, 26879455-26879463, 26879514 |
209 | NF1 | 17 | 0.98532863849765 | 125 | 8520 | 29422328-29422341, 29548872, 29556221-29556243, 29586070-29586084, 29586104, 29586107-29586112, 29586122-29586125, 29586140, 29588748-29588792, 29664859, 29664864, 29664872-29664879, 29665764, 29679391-29679394 |
210 | KRT10 | 17 | 0.93561253561254 | 113 | 1755 | 38975228-38975249, 38975284-38975371, 38978766-38978768 |
211 | KRT14 | 17 | 0.99506694855532 | 7 | 1419 | 39741304-39741309, 39742832 |
212 | KRT16 | 17 | 0.9648382559775 | 50 | 1422 | 39766265-39766281, 39768490-39768496, 39768721-39768746 |
213 | KRT17 | 17 | 0.9838337182448 | 21 | 1299 | 39780414-39780420, 39780465-39780471, 39780516-39780522 |
214 | STAT5B | 17 | 0.99450084602369 | 13 | 2364 | 40371359-40371371 |
215 | PLEKHM1 | 17 | 0.99243140964995 | 24 | 3171 | 43530928-43530935, 43531330-43531336, 43552537, 43552714-43552720, 43552921 |
216 | MAPT | 17 | 0.999141999142 | 2 | 2331 | 44067244-44067245 |
217 | COL1A1 | 17 | 0.99226393629124 | 34 | 4395 | 48265936-48265969 |
218 | NOG | 17 | 0.99856938483548 | 1 | 699 | 54672229 |
219 | TRIM37 | 17 | 0.99896373056995 | 3 | 2895 | 57105911, 57105916, 57119188 |
220 | AP1S2 | 17 | 0.99358974358974 | 4 | 624 | 58180036-58180039 |
221 | ACE | 17 | 0.98622800306044 | 54 | 3921 | 61554490-61554519, 61554553-61554559, 61574562-61574568, 61574573-61574576, 61574579-61574584 |
222 | SCN4A | 17 | 0.99891126837235 | 6 | 5511 | 62029234-62029239 |
223 | POLG2 | 17 | 0.99931412894376 | 1 | 1458 | 62476492 |
224 | COG1 | 17 | 0.99762147468569 | 7 | 2943 | 71189491-71189497 |
225 | SEPT9 | 17 | 0.92277115275412 | 136 | 1761 | 75494605-75494740 |
226 | SGSH | 17 | 0.99271040424122 | 11 | 1509 | 78194052-78194053, 78194075-78194078, 78194081-78194083, 78194094-78194095 |
227 | LPIN2 | 18 | 0.99962839093274 | 1 | 2691 | 2951126 |
228 | AFG3L2 | 18 | 0.99958228905597 | 1 | 2394 | 12377046 |
229 | NPC1 | 18 | 0.99791503778994 | 8 | 3837 | 21124936, 21124945, 21152038-21152043 |
230 | LAMA3 | 18 | 0.99900019996001 | 10 | 10002 | 21269658-21269662, 21269687-21269691 |
231 | DSC3 | 18 | 0.98959494611669 | 28 | 2691 | 28604376-28604387, 28622573-28622585, 28622594-28622596 |
232 | DSC2 | 18 | 0.9929785661493 | 19 | 2706 | 28669417-28669419, 28669456-28669471 |
233 | TTR | 18 | 0.97972972972973 | 9 | 444 | 29178574-29178579, 29178582-29178584 |
234 | LOXHD1 | 18 | 0.97634116937914 | 157 | 6636 | 44085985-44085986, 44126858-44127012 |
235 | SMAD4 | 18 | 0.9915611814346 | 14 | 1659 | 48603067-48603079, 48603085 |
236 | TCF4 | 18 | 0.99404761904762 | 12 | 2016 | 53252517-53252528 |
237 | ATP8B1 | 18 | 0.99547390841321 | 17 | 3756 | 55328529, 55398954-55398969 |
238 | LMAN1 | 18 | 0.99934768427919 | 1 | 1533 | 56998354 |
239 | CCBE1 | 18 | 0.995085995086 | 6 | 1221 | 57134061-57134066 |
240 | TNFRSF11A | 18 | 0.9837925445705 | 30 | 1851 | 59992595-59992607, 59992612-59992615, 59992627-59992639 |
241 | ELANE | 19 | 0.82338308457711 | 142 | 804 | 853262-853403 |
242 | KISS1R | 19 | 0.99164578111947 | 10 | 1197 | 920308, 920311-920313, 920316, 920347-920348, 920374-920376 |
243 | MAP2K2 | 19 | 0.92352452202826 | 92 | 1203 | 4123781-4123872 |
244 | STXBP2 | 19 | 0.99775533108866 | 4 | 1782 | 7702042, 7707089-7707091 |
245 | TYK2 | 19 | 0.99887766554433 | 4 | 3564 | 10463147-10463150 |
246 | CACNA1A | 19 | 0.99016088286132 | 74 | 7521 | 13318568, 13318646, 13318649-13318655, 13318666-13318712, 13318793-13318797, 13318800, 13318809-13318812, 13318835, 13319687, 13319692-13319694, 13616910, 13616913, 13616952 |
247 | NOTCH3 | 19 | 0.99511915015791 | 34 | 6966 | 15281324-15281329, 15281334, 15281351-15281357, 15311619-15311626, 15311637-15311646, 15311668, 15311695 |
248 | JAK3 | 19 | 0.99733333333333 | 9 | 3375 | 17940924, 17940933-17940939, 17941326 |
249 | SLC5A5 | 19 | 0.99948240165631 | 1 | 1932 | 17984971 |
250 | COMP | 19 | 0.99516270888303 | 11 | 2274 | 18900764, 18900768, 18900780-18900783, 18900789, 18900795, 18901663-18901665 |
251 | CEBPA | 19 | 0.90343546889508 | 104 | 1077 | 33792850-33792864, 33792868-33792874, 33792891, 33792913-33792920, 33792967-33792992, 33793016-33793022, 33793168, 33793201-33793205, 33793213, 33793216-33793240, 33793246-33793247, 33793261, 33793264-33793268 |
252 | SCN1B | 19 | 0.95043370508055 | 40 | 807 | 35521725-35521764 |
253 | PRODH2 | 19 | 0.99441340782123 | 9 | 1611 | 36303319-36303327 |
254 | RYR1 | 19 | 0.99986769861745 | 2 | 15117 | 38976674-38976675 |
255 | PRX | 19 | 0.97423620611035 | 113 | 4386 | 40901311-40901314, 40901317, 40901323-40901328, 40909621, 40909624, 40909628, 40909634, 40909666-40909763 |
256 | TGFB1 | 19 | 0.99147485080989 | 10 | 1173 | 41854253, 41858919-41858925, 41858928-41858929 |
257 | ATP1A3 | 19 | 0.99891245241979 | 4 | 3678 | 42471349, 42480576, 42480580, 42480583 |
258 | BCAM | 19 | 0.99364069952305 | 12 | 1887 | 45312401, 45312404, 45312407-45312410, 45312424-45312428, 45321862 |
259 | SIX5 | 19 | 0.99324324324324 | 15 | 2220 | 46270182-46270186, 46271957, 46272074-46272082 |
260 | DMPK | 19 | 0.97989417989418 | 38 | 1890 | 46285538-46285540, 46285543, 46285547-46285549, 46285555-46285561, 46285571-46285582, 46285592, 46285600-46285610 |
261 | FKRP | 19 | 0.98454301075269 | 23 | 1488 | 47259666, 47259705-47259709, 47259722-47259735, 47259743-47259745 |
262 | CRX | 19 | 0.99888888888889 | 1 | 900 | 48342639 |
263 | DBP | 19 | 0.98670756646217 | 13 | 978 | 49138837-49138842, 49138845, 49138848-49138853 |
264 | MED25 | 19 | 0.99777183600713 | 5 | 2244 | 50333776, 50333779, 50339526, 50339529-50339530 |
265 | MYH14 | 19 | 0.99967272132221 | 2 | 6111 | 50770146, 50770233 |
266 | KCNC3 | 19 | 0.85488126649077 | 330 | 2274 | 50823506-50823551, 50823553-50823558, 50823561-50823566, 50823572-50823573, 50823580-50823596, 50831515-50831523, 50831529-50831534, 50831552-50831554, 50831654, 50831712-50831714, 50831796-50831800, 50831828, 50831834-50831840, 50831856-50831858, 50831865-50831866, 50831931-50831935, 50831938-50831956, 50831959, 50831963-50831971, 50832025, 50832028, 50832141, 50832144-50832146, 50832149-50832153, 50832172-50832339 |
267 | PRKCG | 19 | 0.98519579751671 | 31 | 2094 | 54393207-54393235, 54393243-54393244 |
268 | NLRP7 | 19 | 0.98233782915864 | 55 | 3114 | 55450693-55450740, 55451035-55451041 |
269 | TNNT1 | 19 | 0.99619771863118 | 3 | 789 | 55657832-55657834 |
270 | TNNI3 | 19 | 0.99835796387521 | 1 | 609 | 55667693 |
271 | KLF11 | 2 | 0.97270955165692 | 42 | 1539 | 10183844-10183885 |
272 | MYCN | 2 | 0.99928315412186 | 1 | 1395 | 16082599 |
273 | APOB | 2 | 0.99598305579901 | 55 | 13692 | 21227182-21227201, 21266749-21266783 |
274 | OTOF | 2 | 0.97964631297965 | 122 | 5994 | 26697416, 26699759-26699768, 26699785-26699793, 26699800-26699832, 26699837-26699847, 26699855-26699903, 26700117-26700120, 26700126, 26700134, 26712606-26712608 |
275 | C2orf71 | 2 | 0.99974140160331 | 1 | 3867 | 29293672 |
276 | ALK | 2 | 0.99814929056138 | 9 | 4863 | 29451777-29451785 |
277 | SPAST | 2 | 0.89951377633712 | 186 | 1851 | 32289006, 32289013, 32289075, 32289083-32289192, 32289201, 32289203-32289246, 32289251, 32289266-32289267, 32289298-32289315, 32340799-32340805 |
278 | SOS1 | 2 | 0.98750624687656 | 50 | 4002 | 39214617-39214643, 39278414-39278425, 39285880, 39285890-39285899 |
279 | ABCG5 | 2 | 0.99539877300613 | 9 | 1956 | 44047191-44047196, 44047201-44047203 |
280 | MSH2 | 2 | 0.99857397504456 | 4 | 2805 | 47635540, 47641531-47641533 |
281 | MSH6 | 2 | 0.99681606661768 | 13 | 4083 | 48010550-48010556, 48010570, 48010576-48010578, 48010588, 48032757 |
282 | LHCGR | 2 | 0.99190476190476 | 17 | 2100 | 48982760-48982775, 48982778 |
283 | NRXN1 | 2 | 0.99977401129943 | 1 | 4425 | 50170905 |
284 | EFEMP1 | 2 | 0.99325236167341 | 10 | 1482 | 56102088, 56102127-56102134, 56102137 |
285 | MCEE | 2 | 0.9924670433145 | 4 | 531 | 71337176-71337178, 71337196 |
286 | ALMS1 | 2 | 0.99840051183621 | 20 | 12504 | 73613032-73613043, 73827996-73828002, 73828342 |
287 | DCTN1 | 2 | 0.99869689861871 | 5 | 3837 | 74592662-74592666 |
288 | SUCLG1 | 2 | 0.97790585975024 | 23 | 1041 | 84668427, 84676792-84676809, 84676815-84676818 |
289 | SFTPB | 2 | 0.99912739965096 | 1 | 1146 | 85892793 |
290 | REEP1 | 2 | 0.97359735973597 | 16 | 606 | 86564605-86564607, 86564615-86564620, 86564627-86564633 |
291 | EIF2AK3 | 2 | 0.99731423455685 | 9 | 3351 | 88887501, 88887515, 88926747-88926752, 88926759 |
292 | RANBP2 | 2 | 0.95658914728682 | 420 | 9675 | 109347836-109347874, 109352023-109352029, 109352632-109352638, 109357110-109357116, 109367751-109367775, 109367857-109367895, 109368074-109368110, 109368334-109368341, 109371385-109371424, 109371656-109371662, 109378577, 109378605, 109378624, 109382878-109382926, 109383268-109383274, 109383295-109383321, 109383354-109383381, 109383672-109383678, 109383761-109383798, 109383822-109383828, 109384466-109384472, 109384505-109384511, 109384561-109384574, 109384628-109384634, 109397775, 109397781, 109399068 |
293 | NPHP1 | 2 | 0.98721730580138 | 26 | 2034 | 110917729, 110917732, 110922642-110922665 |
294 | MERTK | 2 | 0.99333333333333 | 20 | 3000 | 112656313-112656317, 112656320-112656322, 112656325-112656329, 112656338-112656343, 112656372 |
295 | GLI2 | 2 | 0.99138836378912 | 41 | 4761 | 121555022-121555025, 121746117, 121746139-121746149, 121746155, 121746164-121746173, 121746176-121746185, 121746245-121746248 |
296 | PROC | 2 | 0.99422799422799 | 8 | 1386 | 128180670, 128180706, 128180717-128180718, 128180721-128180724 |
297 | RAB3GAP1 | 2 | 0.9969450101833 | 9 | 2946 | 135848626, 135848642, 135848653-135848658, 135848661 |
298 | MMADHC | 2 | 0.99887766554433 | 1 | 891 | 150438701 |
299 | NEB | 2 | 0.99354160408531 | 129 | 19974 | 152363472-152363478, 152432741-152432787, 152432801-152432853, 152432861, 152482048-152482068 |
300 | SCN2A | 2 | 0.9950149551346 | 30 | 6018 | 166167012-166167019, 166171987, 166172011, 166211151-166211155, 166221706, 166221709, 166221739, 166234131-166234136, 166234146-166234151 |
301 | SCN9A | 2 | 0.99780923491743 | 13 | 5934 | 167060494, 167060877, 167083161, 167083178, 167083200, 167083214, 167089945, 167089951-167089956 |
302 | SLC25A12 | 2 | 0.99852724594993 | 3 | 2037 | 172644427-172644429 |
303 | AGPS | 2 | 0.99393019726859 | 12 | 1977 | 178333183-178333184, 178346792, 178346795, 178346810, 178346818, 178346844, 178346888-178346890, 178362432, 178362488 |
304 | TTN | 2 | 0.9997107174208 | 29 | 100248 | 179416951, 179523796-179523803, 179559366-179559367, 179598578-179598595 |
305 | CERKL | 2 | 0.99874921826141 | 2 | 1599 | 182409515, 182409522 |
306 | COL3A1 | 2 | 0.99000227221086 | 44 | 4401 | 189850458-189850462, 189850476-189850479, 189850496-189850504, 189860464-189860470, 189863423-189863426, 189866161, 189871663-189871671, 189871677, 189871680-189871683 |
307 | COL5A2 | 2 | 0.99888888888889 | 5 | 4500 | 189916951, 189936786-189936789 |
308 | PMS1 | 2 | 0.99106823865666 | 25 | 2799 | 190670434, 190718713-190718715, 190718752, 190718756, 190718765-190718774, 190718781, 190718806-190718808, 190719037, 190732566-190732569 |
309 | CASP10 | 2 | 0.9993626513703 | 1 | 1569 | 202050813 |
310 | ALS2 | 2 | 0.99819059107358 | 9 | 4974 | 202588077-202588084, 202622395 |
311 | BMPR2 | 2 | 0.99615014436959 | 12 | 3117 | 203378527-203378530, 203378540-203378545, 203384813-203384814 |
312 | NDUFS1 | 2 | 0.9981684981685 | 4 | 2184 | 206992583, 206992586, 207017206, 207017209 |
313 | FASTKD2 | 2 | 0.99953117674637 | 1 | 2133 | 207652764 |
314 | CPS1 | 2 | 0.99955585165445 | 2 | 4503 | 211455528, 211507215 |
315 | ABCA12 | 2 | 0.99678993323061 | 25 | 7788 | 215797418-215797420, 215797424, 215809767, 215809770, 215812175-215812192, 215846938 |
316 | OBSL1 | 2 | 0.9826041117554 | 99 | 5691 | 220416282-220416295, 220435680-220435704, 220435719-220435725, 220435732-220435784 |
317 | COL4A4 | 2 | 0.99447077409163 | 28 | 5064 | 227942679, 227984624-227984650 |
318 | UGT1A1 | 2 | 0.9956304619226 | 7 | 1602 | 234668951-234668954, 234668964-234668966 |
319 | D2HGDH | 2 | 0.99680715197957 | 5 | 1566 | 242707310-242707313, 242707316 |
320 | AVP | 20 | 0.83030303030303 | 84 | 495 | 3063335-3063374, 3063389, 3063650, 3063653, 3063691, 3063772-3063811 |
321 | PANK2 | 20 | 0.99766491535318 | 4 | 1713 | 3870110, 3870113-3870114, 3870124 |
322 | FERMT1 | 20 | 0.99950835791544 | 1 | 2034 | 6077649 |
323 | C20orf7 | 20 | 0.9990366088632 | 1 | 1038 | 13782279 |
324 | SNTA1 | 20 | 0.99934123847167 | 1 | 1518 | 32031339 |
325 | GSS | 20 | 0.99929824561404 | 1 | 1425 | 33530804 |
326 | SAMHD1 | 20 | 0.99946836788942 | 1 | 1881 | 35545184 |
327 | CTSA | 20 | 0.98997995991984 | 15 | 1497 | 44520238-44520252 |
328 | CHRNA4 | 20 | 0.99044585987261 | 18 | 1884 | 61992467, 61992470-61992483, 61992488, 61992492, 61992497 |
329 | SOX18 | 20 | 0.68051948051948 | 369 | 1155 | 62680183-62680188, 62680205-62680209, 62680512-62680869 |
330 | APP | 21 | 0.99956766104626 | 1 | 2313 | 27484445 |
331 | BACH1 | 21 | 0.99773857982813 | 5 | 2211 | 30715036-30715040 |
332 | IFNGR2 | 21 | 0.93392504930966 | 67 | 1014 | 34775850-34775896, 34775898-34775902, 34775905-34775919 |
333 | AIRE | 21 | 0.99206349206349 | 13 | 1638 | 45713050-45713058, 45714286-45714288, 45714294 |
334 | ITGB2 | 21 | 0.97922077922078 | 48 | 2310 | 46308661-46308708 |
335 | COL18A1 | 21 | 0.99981006647673 | 1 | 5265 | 46931041 |
336 | COL6A1 | 21 | 0.99254940071267 | 23 | 3087 | 47401781-47401784, 47401788-47401806 |
337 | PCNT | 21 | 0.99460593347318 | 54 | 10011 | 47766859-47766875, 47822292-47822312, 47832898-47832906, 47856011-47856017 |
338 | PRODH | 22 | 0.99778147531891 | 4 | 1803 | 18908932-18908933, 18923545, 18923548 |
339 | GP1BB | 22 | 0.92109500805153 | 49 | 621 | 19711824-19711865, 19711896-19711902 |
340 | TBX1 | 22 | 0.86290322580645 | 204 | 1488 | 19748428-19748601, 19748610-19748613, 19748617-19748622, 19748628-19748629, 19748667, 19748670-19748672, 19753513-19753522, 19753987, 19754036, 19754040-19754041 |
341 | CHEK2 | 22 | 0.94946053378762 | 89 | 1761 | 29083906-29083912, 29083946-29083965, 29085123-29085143, 29085165-29085171, 29091139-29091160, 29091753-29091756, 29091837-29091844 |
342 | TRIOBP | 22 | 0.99901380670611 | 7 | 7098 | 38120003-38120009 |
343 | EP300 | 22 | 0.99641131815045 | 26 | 7245 | 41536161, 41546110-41546134 |
344 | TNFRSF13C | 22 | 0.94774774774775 | 29 | 555 | 42322209-42322231, 42322243-42322248 |
345 | CYB5R3 | 22 | 0.99227373068433 | 7 | 906 | 43045309-43045314, 43045319 |
346 | ALG12 | 22 | 0.99795501022495 | 3 | 1467 | 50297997-50297999 |
347 | MLC1 | 22 | 0.99206349206349 | 9 | 1134 | 50502600-50502608 |
348 | TYMP | 22 | 0.99102829537612 | 13 | 1449 | 50964306, 50964475, 50964709, 50964715-50964717, 50964808-50964814 |
349 | SHANK3 | 22 | 0.81216628527841 | 985 | 5244 | 51113070-51113132, 51135951-51136143, 51158726-51159212, 51159310-51159313, 51159316, 51159439-51159444, 51159450-51159460, 51159466, 51159471, 51159473-51159475, 51169169-51169171, 51169211-51169215, 51169316-51169350, 51169480-51169612, 51169628-51169629, 51169632-51169635, 51169640-51169645, 51169651, 51169656-51169664, 51169684-51169695, 51169710, 51169714-51169717 |
350 | FANCD2 | 3 | 0.97803442028986 | 97 | 4416 | 10085533-10085539, 10088264-10088311, 10088340-10088346, 10091150-10091156, 10107087-10107093, 10107165-10107171, 10114941-10114947, 10115015-10115021 |
351 | TGFBR2 | 3 | 0.98988195615514 | 18 | 1779 | 30691868-30691885 |
352 | SCN5A | 3 | 0.9988113431822 | 7 | 5889 | 38592925-38592931 |
353 | HESX1 | 3 | 0.91935483870968 | 45 | 558 | 57232246-57232290 |
354 | FLNB | 3 | 0.99769496734537 | 18 | 7809 | 58062873-58062890 |
355 | PDHB | 3 | 0.9962962962963 | 4 | 1080 | 58416517-58416518, 58416521, 58416524 |
356 | ATXN7 | 3 | 0.88971106412967 | 313 | 2838 | 63898275-63898439, 63898453-63898599, 63973980 |
357 | PROK2 | 3 | 0.95384615384615 | 18 | 390 | 71821960-71821977 |
358 | ROBO2 | 3 | 0.99589074208364 | 17 | 4137 | 77595553-77595560, 77600006-77600014 |
359 | GBE1 | 3 | 0.97534376481745 | 52 | 2109 | 81754620, 81754623-81754625, 81754679-81754688, 81754695, 81754700-81754704, 81754719, 81754731-81754761 |
360 | PROS1 | 3 | 0.99064500246184 | 19 | 2031 | 93595831, 93595923-93595929, 93595973-93595977, 93595988-93595993 |
361 | ARL13B | 3 | 0.98834498834499 | 15 | 1287 | 93762028-93762042 |
362 | ARL6 | 3 | 0.99465240641711 | 3 | 561 | 97503817, 97503844, 97503882 |
363 | IQCB1 | 3 | 0.99387868670006 | 11 | 1797 | 121489403-121489409, 121547767-121547770 |
364 | ATP2C1 | 3 | 0.99859649122807 | 4 | 2850 | 130650931-130650934 |
365 | NPHP3 | 3 | 0.96694214876033 | 132 | 3993 | 132423068, 132438549-132438674, 132441000, 132441014, 132441084, 132441095, 132441105 |
366 | FOXL2 | 3 | 0.98054818744474 | 22 | 1131 | 138664689, 138664864-138664872, 138664876, 138664878, 138664883-138664890, 138664897, 138665022 |
367 | MRPS22 | 3 | 0.99907663896584 | 1 | 1083 | 139075855 |
368 | PLOD2 | 3 | 0.98858146684234 | 26 | 2277 | 145791128-145791137, 145795694-145795702, 145804618, 145804623, 145804634, 145804643, 145804648, 145804684, 145804693 |
369 | GFM1 | 3 | 0.99955673758865 | 1 | 2256 | 158399920 |
370 | IFT80 | 3 | 0.99914089347079 | 2 | 2328 | 160000363-160000364 |
371 | PLD1 | 3 | 0.99968992248062 | 1 | 3225 | 171431763 |
372 | SOX2 | 3 | 0.99685534591195 | 3 | 954 | 181430230, 181430536, 181430539 |
373 | OPA1 | 3 | 0.99376640419948 | 19 | 3048 | 193354984-193354991, 193354995, 193355000-193355002, 193355014-193355018, 193355050, 193355070 |
374 | IDUA | 4 | 0.96330275229358 | 72 | 1962 | 980876, 980879, 980887, 980896, 995815-995818, 996261, 996264, 996608-996656, 996692-996696, 996715, 997146-997152 |
375 | HTT | 4 | 0.99268215081133 | 69 | 9429 | 3076605-3076643, 3076645-3076654, 3076656-3076657, 3076659-3076666, 3076672, 3076693, 3076765, 3076773, 3076778-3076779, 3105588, 3213784-3213786 |
376 | DOK7 | 4 | 0.98877887788779 | 17 | 1515 | 3465239-3465248, 3465256-3465257, 3465265-3465267, 3465270, 3465277 |
377 | EVC2 | 4 | 0.99923605805959 | 3 | 3927 | 5578113-5578115 |
378 | EVC | 4 | 0.99932863376972 | 2 | 2979 | 5713145, 5713190 |
379 | CC2D2A | 4 | 0.99753238741518 | 12 | 4863 | 15581766-15581777 |
380 | CNGA1 | 4 | 0.97456140350877 | 58 | 2280 | 47944129-47944136, 47954640, 47954652-47954664, 47954667-47954680, 47972913-47972927, 47972947, 47972975, 47972981, 47973024-47973025, 47973031, 47973071 |
381 | SLC4A4 | 4 | 0.99969558599696 | 1 | 3285 | 72306441 |
382 | ALB | 4 | 0.99617486338798 | 7 | 1830 | 74274516-74274522 |
383 | COQ2 | 4 | 0.96883116883117 | 36 | 1155 | 84193252-84193287 |
384 | CDS1 | 4 | 0.9963924963925 | 5 | 1386 | 85562034-85562037, 85562096 |
385 | PKD2 | 4 | 0.97523219814241 | 72 | 2907 | 88928936-88928957, 88928965-88929013, 88973280 |
386 | SNCA | 4 | 0.9290780141844 | 30 | 423 | 90749294-90749303, 90749307-90749310, 90749314-90749320, 90749323, 90749334-90749335, 90756701-90756702, 90756705-90756708 |
387 | MANBA | 4 | 0.99621212121212 | 10 | 2640 | 103611797-103611806 |
388 | CISD2 | 4 | 0.95343137254902 | 19 | 408 | 103808512-103808522, 103808568-103808575 |
389 | ANK2 | 4 | 0.99806299477851 | 23 | 11874 | 114117567, 114161703-114161724 |
390 | BBS7 | 4 | 0.95204841713222 | 103 | 2148 | 122754450, 122775859-122775942, 122775966-122775975, 122782743-122782750 |
391 | NR3C2 | 4 | 0.99627749576988 | 11 | 2955 | 149075965, 149075970, 149075977, 149075991-149075995, 149076003-149076005 |
392 | FGG | 4 | 0.99192364170338 | 11 | 1362 | 155533170-155533180 |
393 | GLRB | 4 | 0.9524765729585 | 71 | 1494 | 158041711-158041719, 158041722-158041728, 158041740-158041772, 158041786-158041793, 158041801-158041814 |
394 | ETFDH | 4 | 0.99946062567422 | 1 | 1854 | 159616752 |
395 | GK | 4 | 0.90854392298436 | 152 | 1662 | 166199234-166199253, 166199345, 166199361, 166199390, 166199426, 166199429, 166199563-166199610, 166199760-166199766, 166200025-166200066, 166200757-166200786 |
396 | SDHA | 5 | 0.93784461152882 | 124 | 1995 | 223682-223683, 233689-233697, 236639-236681, 236693-236699, 251108-251114, 251465-251506, 254571-254577, 256469-256475 |
397 | TERT | 5 | 0.98882024124743 | 38 | 3399 | 1294575, 1294718-1294735, 1295033, 1295036-1295037, 1295062, 1295065-1295068, 1295074, 1295082-1295091 |
398 | SDHA | 5 | 0.99388379204893 | 2 | 327 | 1593246, 1593266 |
399 | DNAH5 | 5 | 0.99185585585586 | 113 | 13875 | 13737420-13737427, 13792275, 13792284-13792289, 13810296, 13817727, 13894889, 13894894, 13901467, 13916457-13916539, 13916549-13916558 |
400 | NIPBL | 5 | 0.97361853832442 | 222 | 8415 | 37014852-37014857, 37036481-37036589, 37048604-37048617, 37048631-37048638, 37048641, 37048646-37048715, 37048757-37048763, 37048772-37048775, 37051976, 37051981, 37051988 |
401 | LIFR | 5 | 0.99878567091682 | 4 | 3294 | 38482712, 38482715, 38482769, 38490373 |
402 | OXCT1 | 5 | 0.98592450415867 | 22 | 1563 | 41862778-41862786, 41862803, 41862807-41862808, 41862813-41862822 |
403 | GHR | 5 | 0.99947835159103 | 1 | 1917 | 42629148 |
404 | FGF10 | 5 | 0.99521531100478 | 3 | 627 | 44388715-44388717 |
405 | ITGA2 | 5 | 0.99971799210378 | 1 | 3546 | 52386427 |
406 | ERCC8 | 5 | 0.99328295549958 | 8 | 1191 | 60200679, 60217946-60217952 |
407 | SMN2 | 5 | 0.9728813559322 | 24 | 885 | 69362945-69362961, 69372350-69372356 |
408 | SMN2 | 5 | 0.98079096045198 | 17 | 885 | 70238369-70238385 |
409 | AP3B1 | 5 | 0.99452054794521 | 18 | 3285 | 77311345-77311351, 77536736-77536737, 77536740-77536742, 77536756-77536760, 77563408 |
410 | ARSB | 5 | 0.98501872659176 | 24 | 1602 | 78280978-78281001 |
411 | VCAN | 5 | 0.99970562260818 | 3 | 10191 | 82836260-82836262 |
412 | RASA1 | 5 | 0.94274809160305 | 180 | 3144 | 86659189, 86659192, 86659196-86659200, 86659224-86659226, 86659255-86659266, 86669980-86670137 |
413 | MEF2C | 5 | 0.9957805907173 | 6 | 1422 | 88024351, 88024361, 88024382-88024383, 88024429, 88024433 |
414 | GPR98 | 5 | 0.99651181227208 | 66 | 18921 | 89940545, 89971932, 89971992, 90002176, 90002183-90002189, 90002200-90002201, 90007066, 90008205, 90020751, 90020760-90020764, 90020784-90020785, 90020790, 90049608, 90052969-90052978, 90144583-90144613 |
415 | PCSK1 | 5 | 0.99911582670203 | 2 | 2262 | 95746573, 95746581 |
416 | WDR36 | 5 | 0.98949579831933 | 30 | 2856 | 110436334-110436339, 110436345-110436346, 110436412, 110436419, 110441788, 110441824-110441842 |
417 | APC | 5 | 0.99988279418659 | 1 | 8532 | 112111326 |
418 | HSD17B4 | 5 | 0.99502487562189 | 11 | 2211 | 118814574, 118814602, 118835045, 118835064, 118835127, 118861665-118861666, 118861674-118861677 |
419 | HSD17B4 | 5 | 0.97872340425532 | 6 | 282 | 118861665-118861666, 118861674-118861677 |
420 | FBN2 | 5 | 0.99553724682458 | 39 | 8739 | 127611760-127611767, 127645776-127645782, 127702071, 127702080, 127702086-127702089, 127702097-127702101, 127702111-127702123 |
421 | MYOT | 5 | 0.97327989311957 | 40 | 1497 | 137221742-137221748, 137221794-137221795, 137221814, 137221830, 137221841-137221850, 137221856-137221863, 137221867, 137221874-137221877, 137222624-137222629 |
422 | MATR3 | 5 | 0.99921383647799 | 2 | 2544 | 138658531-138658532 |
423 | DIAPH1 | 5 | 0.99607227022781 | 15 | 3819 | 140953462, 140953564-140953572, 140960413-140960417 |
424 | NIPAL4 | 5 | 0.99785867237687 | 3 | 1401 | 156898679-156898680, 156898694 |
425 | MSX2 | 5 | 0.98009950248756 | 16 | 804 | 174151853-174151868 |
426 | NSD1 | 5 | 0.99987640588308 | 1 | 8091 | 176721963 |
427 | GRM6 | 5 | 0.99468488990129 | 14 | 2634 | 178421520, 178421682-178421684, 178421687-178421689, 178421893-178421895, 178421899-178421901, 178421905 |
428 | FLT4 | 5 | 0.99706744868035 | 12 | 4092 | 180038343, 180057023-180057024, 180076537-180076545 |
429 | FOXC1 | 6 | 0.99638989169675 | 6 | 1662 | 1611528, 1611643, 1611803-1611805, 1612024 |
430 | ATXN1 | 6 | 0.95955882352941 | 99 | 2448 | 16327861-16327959 |
431 | HLA-H | 6 | 0.936 | 48 | 750 | 29855849, 29856330, 29856368, 29856397, 29856426-29856427, 29856438, 29856459-29856460, 29856463, 29856516, 29856525, 29856534, 29856546, 29856550, 29856583-29856614, 29856643 |
432 | TNXB | 6 | 0.94919647485744 | 98 | 1929 | 31976899, 31976916, 31976926, 31977388-31977395, 31977525-31977555, 31977835-31977841, 31977994-31978001, 31978498-31978517, 31979422-31979428, 31979476-31979482, 31980130-31980136 |
433 | CYP21A2 | 6 | 0.93010752688172 | 104 | 1488 | 32006202-32006237, 32006886, 32007846-32007852, 32007956-32007970, 32008183-32008201, 32008445-32008455, 32008893-32008907 |
434 | TNXB | 6 | 0.99308665252573 | 88 | 12729 | 32009631-32009664, 32010123-32010130, 32010269-32010275, 32010569-32010575, 32010728-32010735, 32011235, 32011248, 32012276-32012283, 32012330-32012336, 32012984-32012990 |
435 | HLA-DQA1 | 6 | 0.94140625 | 45 | 768 | 32605257, 32605271, 32605295, 32609105-32609106, 32609169, 32609173, 32609192, 32609236-32609241, 32609286, 32609322, 32610387-32610407, 32610436, 32610445, 32610495, 32610501, 32610519, 32610533-32610535 |
436 | HLA-DQB1 | 6 | 0.66666666666667 | 262 | 786 | 32629124-32629173, 32629193-32629194, 32629199, 32629224-32629234, 32629946, 32629955, 32632575-32632725, 32632738, 32632742, 32632745, 32632748-32632749, 32632753, 32632795, 32632815-32632844, 32634283, 32634300-32634302, 32634318, 32634341, 32634355, 32634373 |
437 | COL11A2 | 6 | 0.99808098253694 | 10 | 5211 | 33140131-33140138, 33140368-33140369 |
438 | SYNGAP1 | 6 | 0.93973214285714 | 243 | 4032 | 33388042-33388108, 33393612-33393648, 33393659-33393680, 33411513-33411532, 33411535, 33411553-33411559, 33411565-33411603, 33411605-33411610, 33411614-33411657 |
439 | RUNX2 | 6 | 0.95913154533844 | 64 | 1566 | 45390411-45390413, 45390419-45390423, 45390432, 45390439, 45390446-45390481, 45390484-45390497, 45390505, 45390521-45390523 |
440 | CD2AP | 6 | 0.9921875 | 15 | 1920 | 47563645, 47563674-47563677, 47563680-47563681, 47563716-47563723 |
441 | MUT | 6 | 0.94718153573014 | 119 | 2253 | 49403295-49403297, 49409553-49409589, 49409596-49409601, 49409607-49409622, 49409634, 49409645-49409650, 49409654-49409684, 49419326-49419336, 49421349-49421356 |
442 | PKHD1 | 6 | 0.99893660531697 | 13 | 12225 | 51497424, 51497439, 51887686-51887696 |
443 | EYS | 6 | 0.98346581875994 | 156 | 9435 | 64940568-64940572, 64940575-64940577, 64940580, 65016880-65016883, 65098618, 65098667-65098668, 65098695, 65523271-65523299, 65523305-65523351, 65523393-65523398, 65523402-65523403, 65523415, 65523433, 65523443-65523444, 65596590-65596629, 65596640, 65596689-65596691, 65596699, 66053940, 66063358-66063362 |
444 | LMBRD1 | 6 | 0.99383857054837 | 10 | 1623 | 70409079, 70451701-70451709 |
445 | COL9A1 | 6 | 0.99819233550253 | 5 | 2766 | 70981372, 70981375, 70981378-70981380 |
446 | RIMS1 | 6 | 0.98897420752117 | 56 | 5079 | 72952017-72952040, 73001667-73001672, 73001692-73001699, 73108714, 73108744-73108751, 73108762-73108766, 73108781-73108784 |
447 | BCKDHB | 6 | 0.99236641221374 | 9 | 1179 | 80877462, 80881029-80881032, 80881061, 80881091, 80881095, 80881105 |
448 | RARS2 | 6 | 0.99942429476108 | 1 | 1737 | 88231206 |
449 | OSTM1 | 6 | 0.99900497512438 | 1 | 1005 | 108395779 |
450 | FIG4 | 6 | 0.9985315712188 | 4 | 2724 | 110081478-110081481 |
451 | LAMA2 | 6 | 0.9983979493752 | 15 | 9363 | 129486737-129486744, 129513902, 129513906-129513907, 129670502, 129670505, 129670508-129670509 |
452 | ENPP1 | 6 | 0.98164146868251 | 51 | 2778 | 132171184, 132203486-132203533, 132203590, 132203599 |
453 | PEX7 | 6 | 0.97530864197531 | 24 | 972 | 137167226, 137167230-137167231, 137167253-137167258, 137167274-137167275, 137167278, 137167302-137167304, 137167311-137167319 |
454 | PEX3 | 6 | 0.99643493761141 | 4 | 1122 | 143792536, 143792539, 143792563-143792564 |
455 | SYNE1 | 6 | 0.998370841858 | 43 | 26394 | 152545698, 152545759-152545760, 152545764, 152545773-152545775, 152545787-152545790, 152558047-152558052, 152583290-152583291, 152583304-152583306, 152599385-152599386, 152642395, 152642401-152642404, 152708462-152708474, 152737829 |
456 | PARK2 | 6 | 0.99141630901288 | 12 | 1398 | 162475177-162475188 |
457 | TBP | 6 | 0.94411764705882 | 57 | 1020 | 170871025-170871030, 170871038-170871052, 170871055, 170871058-170871064, 170871067, 170871070-170871088, 170871091-170871098 |
458 | LFNG | 7 | 0.86578947368421 | 153 | 1140 | 2559496-2559558, 2559570-2559574, 2559601-2559622, 2559625-2559629, 2559639-2559641, 2559644-2559651, 2559656-2559658, 2559662-2559680, 2559688, 2559700-2559705, 2559751-2559755, 2559785, 2559875-2559880, 2559894-2559896, 2565100, 2565103-2565104 |
459 | PMS2 | 7 | 0.97489378138277 | 65 | 2589 | 6013150-6013156, 6029442-6029447, 6029460, 6037054, 6045523-6045529, 6045558-6045600 |
460 | TWIST1 | 7 | 0.7504105090312 | 152 | 609 | 19156793-19156944 |
461 | DNAH11 | 7 | 0.99528440907751 | 64 | 13572 | 21630536-21630539, 21630553-21630585, 21630628-21630633, 21630916, 21630927, 21630932, 21630938-21630946, 21893990, 21893993, 21894003-21894008, 21894018 |
462 | FAM126A | 7 | 0.99680715197957 | 5 | 1566 | 23017899, 23017903-23017906 |
463 | DFNA5 | 7 | 0.98926894701543 | 16 | 1491 | 24742427-24742442 |
464 | HOXA13 | 7 | 0.7892030848329 | 246 | 1167 | 27239300, 27239304, 27239307, 27239310-27239354, 27239376-27239394, 27239397-27239406, 27239409-27239410, 27239412-27239477, 27239491-27239590, 27239624 |
465 | GARS | 7 | 0.99954954954955 | 1 | 2220 | 30640719 |
466 | BBS9 | 7 | 0.97597597597598 | 64 | 2664 | 33303902-33303940, 33303964-33303986, 33313524, 33376216 |
467 | GLI3 | 7 | 0.99894581488509 | 5 | 4743 | 42005585-42005589 |
468 | CCM2 | 7 | 0.97752808988764 | 30 | 1335 | 45039933-45039962 |
469 | ASL | 7 | 0.99928315412186 | 1 | 1395 | 65553830 |
470 | KCTD7 | 7 | 0.99540229885057 | 4 | 870 | 66094156-66094159 |
471 | NCF1 | 7 | 0.96727272727273 | 27 | 825 | 72640033-72640039, 72643704-72643723 |
472 | ELN | 7 | 0.9967816091954 | 7 | 2175 | 73442531, 73442540-73442545 |
473 | NCF1 | 7 | 0.9923273657289 | 9 | 1173 | 74193642, 74193668, 74203005-74203007, 74203011-74203014 |
474 | HGF | 7 | 0.99359853680841 | 14 | 2187 | 81399256, 81399263-81399269, 81399280-81399285 |
475 | ABCB4 | 7 | 0.99947916666667 | 2 | 3840 | 87037424-87037425 |
476 | AKAP9 | 7 | 0.99513817809621 | 57 | 11724 | 91609603-91609647, 91707176-91707179, 91714961-91714964, 91722465, 91722468-91722470 |
477 | KRIT1 | 7 | 0.99004975124378 | 22 | 2211 | 91843960-91843963, 91867003, 91867009, 91867020-91867024, 91867040-91867045, 91867068-91867072 |
478 | PEX1 | 7 | 0.99948078920042 | 2 | 3852 | 92134105-92134106 |
479 | COL1A2 | 7 | 0.99585466959278 | 17 | 4101 | 94030899, 94030913-94030914, 94030918-94030921, 94049553, 94049569, 94052286-94052293 |
480 | SGCE | 7 | 0.9882005899705 | 16 | 1356 | 94252639-94252654 |
481 | SLC26A5 | 7 | 0.99507829977629 | 11 | 2235 | 103017278-103017288 |
482 | SLC26A4 | 7 | 0.99914639351259 | 2 | 2343 | 107323692, 107323954 |
483 | DLD | 7 | 0.9921568627451 | 12 | 1530 | 107545454-107545465 |
484 | MET | 7 | 0.99976036424635 | 1 | 4173 | 116397718 |
485 | CFTR | 7 | 0.95588566284042 | 196 | 4443 | 117144328, 117188713-117188766, 117188794-117188800, 117188838-117188877, 117230482-117230493, 117234988-117235044, 117235055-117235065, 117235069-117235071, 117235079, 117235084-117235093 |
486 | AASS | 7 | 0.99928083423229 | 2 | 2781 | 121769511, 121769578 |
487 | IMPDH1 | 7 | 0.99555555555556 | 8 | 1800 | 128049838-128049845 |
488 | FLNC | 7 | 0.99914404499878 | 7 | 8178 | 128498187-128498193 |
489 | ATP6V0A4 | 7 | 0.97938961553706 | 52 | 2523 | 138394374-138394406, 138394416-138394422, 138394426, 138394443-138394451, 138394473, 138394492 |
490 | BRAF | 7 | 0.99348109517601 | 15 | 2301 | 140434519, 140507801-140507805, 140624407-140624408, 140624410-140624414, 140624421, 140624425 |
491 | PRSS1 | 7 | 0.84274193548387 | 117 | 744 | 142458434-142458454, 142458483-142458514, 142459625-142459629, 142459664-142459682, 142459874-142459878, 142460313, 142460335, 142460339, 142460366-142460397 |
492 | CLCN1 | 7 | 0.99865183687226 | 4 | 2967 | 143047476-143047479 |
493 | CNTNAP2 | 7 | 0.9974974974975 | 10 | 3996 | 145813983-145813988, 145813994-145813997 |
494 | KCNH2 | 7 | 0.98247126436782 | 61 | 3480 | 150644736-150644738, 150644761-150644762, 150644765-150644766, 150644780, 150644798, 150644804-150644807, 150648903-150648905, 150648914, 150671862-150671866, 150671871-150671882, 150671886-150671888, 150674969-150674973, 150674983-150675001 |
495 | SHH | 7 | 0.98632109431245 | 19 | 1389 | 155595777, 155595794-155595796, 155595799-155595806, 155596108-155596114 |
496 | MNX1 | 7 | 0.86567164179104 | 162 | 1206 | 156802608, 156802652-156802750, 156802771-156802782, 156802830, 156802895-156802940, 156802968-156802970 |
497 | MCPH1 | 8 | 0.99840510366826 | 4 | 2508 | 6289072-6289075 |
498 | TUSC3 | 8 | 0.99904489016237 | 1 | 1047 | 15480662 |
499 | ANK1 | 8 | 0.99929750614682 | 4 | 5694 | 41566377-41566380 |
500 | HGSNAT | 8 | 0.99685534591195 | 6 | 1908 | 42995689, 42995702, 42995754-42995757 |
501 | CHD7 | 8 | 0.99888814765399 | 10 | 8994 | 61749493, 61749506-61749507, 61749513-61749515, 61749518-61749520, 61749523 |
502 | DECR1 | 8 | 0.98809523809524 | 12 | 1008 | 91057143, 91057147-91057148, 91057160-91057161, 91057167-91057173 |
503 | TMEM67 | 8 | 0.98661311914324 | 40 | 2988 | 94777685-94777687, 94784862, 94784874, 94811912-94811915, 94811925-94811937, 94827586-94827598, 94827626, 94827630, 94828630, 94828635-94828636 |
504 | VPS13B | 8 | 0.98607637151909 | 167 | 11994 | 100123385-100123422, 100123438-100123495, 100123503-100123507, 100146926, 100146955, 100160138, 100287461, 100513957-100513971, 100513979-100514024, 100847886 |
505 | KIAA0196 | 8 | 0.99885057471264 | 4 | 3480 | 126056099-126056101, 126068952 |
506 | KCNQ3 | 8 | 0.99503627338679 | 13 | 2619 | 133492572-133492578, 133492584, 133492765-133492769 |
507 | TG | 8 | 0.99855543517515 | 12 | 8307 | 133882071, 134144056-134144066 |
508 | CYP11B1 | 8 | 0.96560846560847 | 52 | 1512 | 143958513-143958533, 143958572-143958602 |
509 | CYP11B2 | 8 | 0.99338624338624 | 10 | 1512 | 143993983, 143994026-143994032, 143996539, 143996553 |
510 | PLEC | 8 | 0.9954464603344 | 64 | 14055 | 144996220-144996235, 144996251-144996252, 144996255, 144996374-144996378, 144997100-144997105, 144997889, 144997892, 144998911-144998918, 145003826-145003847, 145006199-145006200 |
511 | GPT | 8 | 0.98725687458082 | 19 | 1491 | 145731668, 145731671, 145732013-145732025, 145732032-145732035 |
512 | RECQL4 | 8 | 0.99972429004687 | 1 | 3627 | 145739089 |
513 | DOCK8 | 9 | 0.99888888888889 | 7 | 6300 | 452043, 452050-452055 |
514 | KCNV2 | 9 | 0.995115995116 | 8 | 1638 | 2718729-2718732, 2718764-2718767 |
515 | GLIS3 | 9 | 0.99570354457573 | 12 | 2793 | 4117945-4117956 |
516 | JAK2 | 9 | 0.96999117387467 | 102 | 3399 | 5077478-5077545, 5077555-5077580, 5090819-5090822, 5090827-5090830 |
517 | GNE | 9 | 0.99292661361627 | 16 | 2262 | 36217434-36217449 |
518 | VPS13A | 9 | 0.9802624671916 | 188 | 9525 | 79824395, 79824424, 79824440, 79841384-79841388, 79841400-79841403, 79896783-79896810, 79896818-79896842, 79897040-79897041, 79897101, 79908420-79908424, 79910601, 79910607-79910612, 79929011-79929014, 79929024-79929031, 79932531-79932549, 79932571-79932597, 79932605-79932614, 79933366, 79934543, 79938016-79938017, 79938061, 79946952-79946955, 79946961, 79946972-79946974, 79946991-79946994, 79959101-79959108, 79996906-79996910, 79996921-79996922, 79996929-79996932, 79996939, 79996948-79996950 |
519 | ROR2 | 9 | 0.99858757062147 | 4 | 2832 | 94486022-94486025 |
520 | XPA | 9 | 0.99026763990268 | 8 | 822 | 100451871-100451878 |
521 | FOXE1 | 9 | 0.9572192513369 | 48 | 1122 | 100616308-100616329, 100616698, 100616701-100616725 |
522 | TGFBR1 | 9 | 0.99140211640212 | 13 | 1512 | 101867538-101867540, 101867551-101867557, 101867560-101867561, 101867566 |
523 | INVS | 9 | 0.98780487804878 | 39 | 3198 | 102866824-102866827, 102866834, 103015292-103015293, 103015360-103015377, 103046719-103046720, 103046728-103046731, 103046735, 103046738, 103046741-103046746 |
524 | FKTN | 9 | 0.9963924963925 | 5 | 1386 | 108370212-108370216 |
525 | IKBKAP | 9 | 0.99799949987497 | 8 | 3999 | 111656265-111656272 |
526 | MUSK | 9 | 0.99616858237548 | 10 | 2610 | 113547807-113547814, 113562942, 113562952 |
527 | CDK5RAP2 | 9 | 0.99982400563182 | 1 | 5682 | 123171422 |
528 | NR5A1 | 9 | 0.997113997114 | 4 | 1386 | 127245167-127245170 |
529 | LMX1B | 9 | 0.99731903485255 | 3 | 1119 | 129456063-129456065 |
530 | SETX | 9 | 0.99838187702265 | 13 | 8034 | 135139877-135139886, 135153603-135153605 |
531 | TSC1 | 9 | 0.99856938483548 | 5 | 3495 | 135771986-135771990 |
532 | CEL | 9 | 0.8560105680317 | 327 | 2271 | 135946012-135946018, 135946654-135946971, 135946985, 135946991 |
533 | SURF1 | 9 | 0.97231450719823 | 25 | 903 | 136223305-136223329 |
534 | ADAMTS13 | 9 | 0.99579831932773 | 18 | 4284 | 136293839-136293840, 136293848, 136293860-136293867, 136293876-136293882 |
535 | COL5A1 | 9 | 0.99129961935835 | 48 | 5517 | 137534066-137534069, 137534077-137534120 |
536 | LHX3 | 9 | 0.97187758478081 | 34 | 1209 | 139090568, 139090879-139090905, 139094833-139094838 |
537 | INPP5E | 9 | 0.98966408268734 | 20 | 1935 | 139333325-139333340, 139333343-139333346 |
538 | NOTCH1 | 9 | 0.99882629107981 | 9 | 7668 | 139440197-139440205 |
539 | AGPAT2 | 9 | 0.95340501792115 | 39 | 837 | 139581743-139581745, 139581747, 139581751-139581783, 139581787, 139581790 |
540 | SLC34A3 | 9 | 0.99222222222222 | 14 | 1800 | 140127719, 140128330, 140128333-140128339, 140128610-140128613, 140128616 |
541 | EHMT1 | 9 | 0.99974339235309 | 1 | 3897 | 140513501 |
542 | FANCB | X | 0.99961240310078 | 1 | 2580 | 14877374 |
543 | SMS | X | 0.99091734786558 | 10 | 1101 | 21958982-21958991 |
544 | ARX | X | 0.96151568975725 | 65 | 1689 | 25031375-25031385, 25031653-25031655, 25031663-25031678, 25031706-25031712, 25031777-25031802, 25031806, 25031812 |
545 | NR0B1 | X | 0.99929228591649 | 1 | 1413 | 30327319 |
546 | DMD | X | 0.99773919334419 | 25 | 11058 | 32398645-32398652, 32398655, 32404523-32404524, 32490354-32490355, 32490362, 32827633-32827639, 32867882-32867884, 32867887 |
547 | RPGR | X | 0.89505637467476 | 363 | 3459 | 38145298-38145301, 38145304, 38145324-38145679, 38150697, 38163970 |
548 | TSPAN7 | X | 0.99733333333333 | 2 | 750 | 38546872, 38546882 |
549 | NYX | X | 0.99861687413555 | 2 | 1446 | 41333513, 41333519 |
550 | EBP | X | 0.98412698412698 | 11 | 693 | 48382326-48382336 |
551 | FGD1 | X | 0.9996534996535 | 1 | 2886 | 54494259 |
552 | ARHGEF9 | X | 0.99677627337202 | 5 | 1551 | 62898332-62898336 |
553 | AR | X | 0.95367354325009 | 128 | 2763 | 66765156-66765222, 66765239-66765265, 66766362-66766391, 66766395-66766398 |
554 | IGBP1 | X | 0.99803921568627 | 2 | 1020 | 69366493-69366494 |
555 | MED12 | X | 0.98500153045608 | 98 | 6534 | 70338605-70338616, 70338645, 70338657-70338660, 70338688-70338695, 70360597, 70360602-70360603, 70360609-70360614, 70360617-70360632, 70360648-70360652, 70360663-70360674, 70360682-70360688, 70361109-70361110, 70361112, 70361115, 70361118-70361122, 70361130-70361144 |
556 | GJB1 | X | 0.99647887323944 | 3 | 852 | 70444379-70444381 |
557 | TAF1 | X | 0.96849700809574 | 179 | 5682 | 70586165-70586343 |
558 | SLC16A2 | X | 0.98968512486428 | 19 | 1842 | 73641382-73641385, 73641389-73641391, 73641401-73641403, 73641409-73641413, 73641463, 73641467, 73641470, 73641741 |
559 | ATRX | X | 0.99799438427597 | 15 | 7479 | 76875977-76875978, 76875981-76875993 |
560 | ATP7A | X | 0.99955585165445 | 2 | 4503 | 77258620, 77276457 |
561 | BRWD3 | X | 0.98761323719726 | 67 | 5409 | 79936984-79936991, 79936997-79936998, 79942465-79942468, 79958982, 79959044, 79991487, 79991500, 79991567-79991578, 80001069, 80001073-80001077, 80064940-80064970 |
562 | ZNF711 | X | 0.99956255468066 | 1 | 2286 | 84520183 |
563 | CHM | X | 0.99643221202854 | 7 | 1962 | 85128144-85128145, 85128148-85128150, 85128159-85128160 |
564 | PCDH19 | X | 0.99879007864489 | 4 | 3306 | 99663568-99663570, 99663574 |
565 | COL4A5 | X | 0.9998022933966 | 1 | 5058 | 107834403 |
566 | UPF3B | X | 0.99035812672176 | 14 | 1452 | 118977164-118977177 |
567 | CUL4B | X | 0.99744711889132 | 7 | 2742 | 119680441-119680444, 119694348-119694350 |
568 | OCRL | X | 0.99889135254989 | 3 | 2706 | 128674765-128674766, 128674773 |
569 | PHF6 | X | 0.98816029143898 | 13 | 1098 | 133547602-133547614 |
570 | HPRT1 | X | 0.93759512937595 | 41 | 657 | 133620514-133620554 |
571 | SLC9A6 | X | 0.99952516619183 | 1 | 2106 | 135104856 |
572 | ZIC3 | X | 0.98290598290598 | 24 | 1404 | 136648985-136648987, 136651110-136651115, 136651122, 136651131-136651133, 136651141-136651143, 136651148-136651151, 136651154-136651157 |
573 | SOX3 | X | 0.97986577181208 | 27 | 1341 | 139585952, 139586145-139586150, 139586161, 139586490, 139586494, 139586498-139586499, 139586502-139586510, 139586512, 139586517-139586520, 139586856 |
574 | FMR1 | X | 0.99315429173249 | 13 | 1899 | 147019082-147019094 |
575 | MTM1 | X | 0.99889624724062 | 2 | 1812 | 149828879-149828880 |
576 | SLC6A8 | X | 0.87473794549266 | 239 | 1908 | 152954030-152954034, 152954044-152954053, 152954068-152954247, 152954259, 152959470-152959472, 152959687-152959704, 152959799-152959813, 152960547-152960553 |
577 | ABCD1 | X | 0.95531724754245 | 100 | 2238 | 153008473-153008487, 153008510-153008525, 153008675-153008678, 153008785-153008791, 153008949-153008987, 153009137-153009155 |
578 | AVPR2 | X | 0.99372759856631 | 7 | 1116 | 153172062-153172067, 153172073 |
579 | MECP2 | X | 0.96192384769539 | 57 | 1497 | 153295952, 153295955, 153296184-153296187, 153363061-153363101, 153363107-153363108, 153363111-153363114, 153363119-153363122 |
580 | OPN1LW | X | 0.97899543378995 | 23 | 1095 | 153416319-153416325, 153421809-153421824 |
581 | OPN1MW | X | 0.97442922374429 | 28 | 1095 | 153453450-153453456, 153458939-153458954, 153458997-153459001 |
582 | OPN1MW | X | 0.97899543378995 | 23 | 1095 | 153490568-153490574, 153496057-153496072 |
583 | IKBKG | X | 0.96728016359918 | 16 | 489 | 153868355-153868370 |
Effect rank | Variant | Phase/ Zygosity | Allele freq | Impact | Evaluation | Summary / Info |
---|---|---|---|---|---|---|
3 | PPP2R1B-G90D | het unknown | 0.008 | Dominant pathogenic | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: Unknown |
2 | PCSK9-V474I | homozygous | 0.859 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests |
2 | PCSK9-G670E | homozygous | 0.848 | Unknown benign | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests |
2 | C3-P314L | het unknown | 0.079 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: 0.159 (benign), Testable gene in GeneTests with associated GeneReview |
2 | C3-R102G | het unknown | 0.053 | Complex/Other pathogenic | Moderate clinical importance, likely | This variant (also called C3F) is common in Europeans (10.2% allele frequency), and is associated with age-related macular degeneration. In the US, 1.5% of adults over 40 have the disease, but the incidence increases strongly with age (>15% in women over 80). Assuming an average lifetime risk of ~10%, heterozygous individuals have a ~13% risk and homozygous have ~20%. |
2 | NEFL-S472Shift | homozygous | Unknown | Insufficiently evaluated | Prioritization score: 4 Frameshift, Testable gene in GeneTests with associated GeneReview | |
2 | APOB-S4338N | homozygous | 0.725 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests |
2 | APOB-E4181K | het unknown | 0.121 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests |
2 | APOB-I2313V | het unknown | 0.964 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests |
2 | APOB-Y1422C | homozygous | 0.994 | Unknown benign | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests |
2 | APOB-A618V | het unknown | 0.494 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests |
2 | APOB-T98I | het unknown | 0.149 | Unknown pharmacogenetic | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests |
2 | AGTR2-G21V | het unknown | Unknown pathogenic | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests | |
2 | NPC1-I858V | homozygous | 0.480 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: 0.061 (benign), Testable gene in GeneTests with associated GeneReview |
2 | NPC1-H215R | homozygous | 0.222 | Complex/Other protective | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
1.75 | LRP5-A400V | het unknown | Unknown | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview | |
1.75 | LRP5-V667M | het unknown | 0.007 | Recessive pathogenic | High clinical importance, uncertain | This variant has been implicated in causing osteoporosis-pseudoglioma syndrome in a recessive manner. The gene is strongly implicated in causing the disease, but an insufficient number of controls means this variant's observation lacks statistical significance. The condition manifests in childhood with early onset osteoporosis and eye problems. |
1.75 | 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. |
1.5 | KCNE2-T8A | het unknown | Unknown pharmacogenetic | Insufficiently evaluated | Prioritization score: 4 Polyphen 2: 0.497 (possibly damaging), Testable gene in GeneTests with associated GeneReview | |
1.5 | BRCA2-T1915M | het unknown | 0.012 | Unknown protective | Low clinical importance, uncertain | Summary for this variant not displayed. It may contain a Unicode character preventing it from being properly processed. |
1.5 | BRCA2-V2466A | homozygous | 0.954 | Dominant benign | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
1.5 | PRNP-M129V | het unknown | 0.258 | Complex/Other protective | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: 0.628 (possibly damaging), Testable gene in GeneTests with associated GeneReview |
1.25 | AMPD1-P48L | het unknown | 0.047 | Unknown benign | Insufficiently evaluated | Prioritization score: 4 Polyphen 2: 0.999 (probably damaging), Testable gene in GeneTests |
1.25 | AMPD1-Q12* | het unknown | 0.041 | Recessive pathogenic | Low clinical importance, likely | Causes Adenosine Deaminase Deficiency in a recessive manner. Most of the time individuals do not report symptoms, but when symptoms do exist they to be post-exercise symptoms of muscle weakness, muscle pain, and getting tired more quickly. |
1.25 | GUCY2D-G439R | het unknown | Unknown | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview | |
1.25 | GUCY2D-P701S | het unknown | 0.096 | Recessive pathogenic | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: 0.183 (benign), Testable gene in GeneTests with associated GeneReview |
1 | DLL3-F172C | het unknown | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 5 Polyphen 2: 0.981 (probably damaging), Testable gene in GeneTests with associated GeneReview | |
1 | DLL3-L218P | het unknown | 0.650 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
1 | MAPT-P202L | het unknown | 0.108 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: 0.994 (probably damaging), Testable gene in GeneTests with associated GeneReview |
1 | MAPT-Q230R | het unknown | 0.023 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 5 Polyphen 2: 0.895 (probably damaging), Testable gene in GeneTests with associated GeneReview |
1 | MAPT-D285N | het unknown | 0.081 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: 0.014 (benign), Testable gene in GeneTests with associated GeneReview |
1 | MAPT-V289A | het unknown | 0.081 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
1 | MAPT-R370W | het unknown | 0.116 | Unknown benign | Insufficiently evaluated | Prioritization score: 4 Polyphen 2: 0.996 (probably damaging), Testable gene in GeneTests with associated GeneReview |
1 | MAPT-S447P | het unknown | 0.055 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
1 | CPN2-V536M | homozygous | 0.262 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: 0.935 (probably damaging), Testable gene in GeneTests |
1 | CPN2-Q509R | homozygous | Unknown | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests | |
1 | CPN2-A305T | homozygous | 0.359 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.005 (benign), Testable gene in GeneTests |
1 | PAICS-S148C | homozygous | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown | |
1 | C19orf55-R120H | het unknown | Unknown | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: Unknown | |
1 | C19orf55-G398Shift | homozygous | Unknown | Insufficiently evaluated | Prioritization score: 2 Frameshift | |
1 | CELA1-L210Shift | homozygous | 0.156 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 1 Frameshift |
1 | CELA1-M59V | homozygous | 0.142 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: 0.24 (possibly damaging) |
1 | CELA1-Y5P | homozygous | Unknown | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: Unknown | |
1 | CELA1-V3Shift | homozygous | Unknown | Insufficiently evaluated | Prioritization score: 2 Frameshift | |
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 | VDR-M1T | homozygous | 0.687 | Unknown pharmacogenetic | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: 0.999 (probably damaging), Testable gene in GeneTests |
1 | SLC5A6-L573F | homozygous | 0.034 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.98 (probably damaging) |
1 | ZFYVE19-R48Shift | homozygous | 0.008 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Frameshift |
1 | ZFYVE19-S376A | homozygous | 0.814 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: 0.001 (benign) |
1 | VSIG10L-Q860Shift | homozygous | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Frameshift | |
1 | VSIG10L-R592Q | het unknown | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: Unknown | |
1 | VSIG10L-M356I | het unknown | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: Unknown | |
1 | VSIG10L-N3T | het unknown | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: Unknown | |
1 | CUL7-Q813R | homozygous | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview | |
1 | CUL7-P333L | het unknown | Unknown | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview | |
1 | ZNF480-C3Shift | homozygous | Unknown not reviewed | 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 | ZNF880-N106Shift | homozygous | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Frameshift | |
1 | ZNF880-N140NN | homozygous | Unknown | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: Unknown | |
1 | ZNF880-R198S | homozygous | 0.354 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
1 | ZNF880-N202H | homozygous | 0.292 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
1 | ZNF880-Q406R | het unknown | Unknown | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: Unknown | |
1 | ZNF880-K471R | homozygous | 0.328 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
1 | ZNF761-L47Shift | homozygous | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Frameshift | |
1 | ZNF761-I122S | het unknown | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: Unknown | |
1 | ZNF761-V168I | het unknown | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: Unknown | |
1 | ZNF761-G528S | het unknown | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: Unknown | |
1 | ZNF761-E603Q | het unknown | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: Unknown | |
1 | HSH2D-S223Shift | homozygous | 0.016 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Frameshift |
1 | ADAM3A-L329Shift | homozygous | Unknown | Insufficiently evaluated | Prioritization score: 2 Frameshift | |
1 | ADAM3A-R215G | homozygous | Unknown | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: Unknown | |
1 | ZNF167-N494Shift | homozygous | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Frameshift | |
1 | C17orf77-C207* | homozygous | Unknown | Insufficiently evaluated | Prioritization score: 2 Nonsense mutation | |
1 | ATP8B1-A1152T | homozygous | 0.998 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
1 | ATP8B1-R952Q | het unknown | 0.052 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 4 Polyphen 2: 0.999 (probably damaging), Testable gene in GeneTests with associated GeneReview |
1 | CCDC66-D5Shift | homozygous | Unknown | Insufficiently evaluated | Prioritization score: 2 Frameshift | |
1 | CCDC66-Q383R | homozygous | 0.934 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
1 | CCDC66-RR460Q* | het unknown | 0.206 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: 0.999 (probably damaging), Nonsense mutation |
1 | CCDC66-RR460Q* | het unknown | 0.206 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: 0.999 (probably damaging), Nonsense mutation |
1 | DSG2-I293V | het unknown | 0.036 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 4 Polyphen 2: 0.961 (probably damaging), Testable gene in GeneTests with associated GeneReview |
1 | SP110-M523T | het unknown | 0.319 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
1 | SP110-L425S | het unknown | 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. |
1 | SP110-G299R | het unknown | 0.822 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
1 | SP110-W112R | het unknown | 0.945 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
1 | EGFR-R521K | homozygous | 0.259 | Unknown pharmacogenetic | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests |
1 | GATSL1-N17K | homozygous | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown | |
1 | 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 | POR-A503V | homozygous | 0.227 | Unknown pharmacogenetic | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
1 | KCP-H313Shift | homozygous | Unknown | Insufficiently evaluated | Prioritization score: 2 Frameshift | |
1 | KCP-A16Shift | homozygous | Unknown | Insufficiently evaluated | Prioritization score: 2 Frameshift | |
1 | C14orf104-D768G | 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 | DCAF15-C482Shift | homozygous | Unknown | Insufficiently evaluated | Prioritization score: 2 Frameshift | |
1 | PLEKHA2-P389Shift | homozygous | 0.032 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Frameshift |
1 | TCP11-G6Shift | homozygous | Unknown | Insufficiently evaluated | Prioritization score: 2 Frameshift | |
1 | KRT6C-V481I | homozygous | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview | |
1 | KRT4-G160GAGGFGAGFGTGGFG | homozygous | 0.008 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests |
1 | RYK-L17Shift | homozygous | Unknown | Insufficiently evaluated | Prioritization score: 2 Frameshift | |
1 | TTN-V33180A | het unknown | Unknown | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview | |
1 | TTN-P32685L | het unknown | Unknown | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview | |
1 | TTN-R32034C | het unknown | Unknown | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview | |
1 | TTN-G31702V | het unknown | Unknown | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview | |
1 | TTN-V30951I | het unknown | Unknown | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview | |
1 | TTN-I30146F | 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-S22872N | het unknown | Unknown | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview | |
1 | TTN-A19840P | homozygous | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview | |
1 | TTN-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-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-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 | INSR-A2G | homozygous | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests | |
1 | ATG9B-A765Shift | homozygous | Unknown | Insufficiently evaluated | Prioritization score: 2 Frameshift | |
1 | C8orf49-G26R | homozygous | Unknown | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: Unknown | |
1 | C8orf49-I81V | homozygous | Unknown | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: Unknown | |
1 | C8orf49-C194* | homozygous | Unknown | Insufficiently evaluated | Prioritization score: 2 Nonsense mutation | |
1 | CLECL1-S52Shift | homozygous | 0.008 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Frameshift |
1 | TP53-P72R | het unknown | 0.550 | Unknown pathogenic | Low clinical importance, uncertain | This is a common variant was first reported as a polymorphism. It has since had mixed associations with cancer: Storey et al. conclude a 7x *increased* risk of HPV cancer for homozygotes vs hets, but Jones et al. find a 1.98x *decreased* risk for colorectal cancer. This variant may have significant impact on particular cancers, but it is unclear what effect it has on the overall burden of cancer. |
1 | KCNJ11-V337I | het unknown | 0.761 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
1 | KCNJ11-K23E | het unknown | 0.711 | Unknown protective | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
1 | FTCD-A438V | homozygous | 0.031 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests |
1 | TCEAL6-Q175Shift | homozygous | 0.022 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Frameshift |
1 | ZNF598-M637T | homozygous | 0.601 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
1 | ZNF598-G42Shift | homozygous | Unknown | Insufficiently evaluated | Prioritization score: 2 Frameshift | |
1 | ZNF598-E25G | 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 | HLA-DQA1-F41S | homozygous | 0.544 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 3 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-RW70KL | het unknown | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview | |
1 | HLA-DQA1-RW70KL | het unknown | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview | |
1 | HLA-DQA1-E73L | het unknown | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview | |
1 | HLA-DQA1-E73L | het unknown | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview | |
1 | HLA-DQA1-S75H | het unknown | Unknown | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview | |
1 | HLA-DQA1-SK75RQ | het unknown | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview | |
1 | HLA-DQA1-KF76RL | het unknown | Unknown | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview | |
1 | HLA-DQA1-G84F | homozygous | 0.122 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
1 | HLA-DQA1-R87T | homozygous | 0.170 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
1 | HLA-DQA1-M89I | homozygous | 0.200 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
1 | HLA-DQA1-A92L | het unknown | 0.151 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
1 | HLA-DQA1-A92L | het unknown | 0.151 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
1 | HLA-DQA1-M99L | homozygous | 0.066 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
1 | HLA-DQA1-Y103S | homozygous | 0.544 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
1 | HLA-DQA1-Q152H | homozygous | 0.526 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
1 | HLA-DQA1-Q198E | het unknown | 0.362 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
1 | HLA-DQA1-M230V | homozygous | 0.782 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
1 | B3GNT6-L316Shift | homozygous | Unknown | Insufficiently evaluated | Prioritization score: 2 Frameshift | |
1 | B3GNT6-L335Shift | homozygous | Unknown | Insufficiently evaluated | Prioritization score: 2 Frameshift | |
1 | PADI6-V343Shift | homozygous | 0.016 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Frameshift |
1 | GSTM1-L159V | homozygous | Unknown | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests | |
1 | GSTM1-K173N | homozygous | 1.000 | Unknown pharmacogenetic | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests |
1 | SCARF2-A832G | homozygous | 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 | NR_027242-N339D | het unknown | Unknown | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: Unknown | |
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 | ALG6-S306F | homozygous | Unknown | 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 | ZFPM1-E444Shift | homozygous | Unknown | Insufficiently evaluated | Prioritization score: 2 Frameshift | |
1 | ZFPM1-L446Shift | homozygous | Unknown | Insufficiently evaluated | Prioritization score: 2 Frameshift | |
1 | TNXB-R48P | homozygous | Unknown | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview | |
1 | RRP15-K149N | homozygous | 0.043 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: 0.997 (probably damaging) |
1 | DGKK-L1014Shift | homozygous | Unknown | Insufficiently evaluated | Prioritization score: 2 Frameshift | |
1 | HRNR-R2761Q | homozygous | 0.600 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
1 | HRNR-L2688S | het unknown | 0.939 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
1 | HRNR-S929F | het unknown | Unknown | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: Unknown | |
1 | HRNR-S799T | homozygous | 0.569 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
1 | HRNR-D668C | het unknown | 0.057 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
1 | HRNR-R664Q | het unknown | 0.568 | 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 | SMPD1-AL48Del | homozygous | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview | |
1 | PIK3R6-L609Shift | homozygous | Unknown | Insufficiently evaluated | Prioritization score: 2 Frameshift | |
1 | GSPT1-V100A | homozygous | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: Unknown | |
1 | GSPT1-P93L | het unknown | Unknown | 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 | USH2A-GL3485EN | het unknown | Unknown | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview | |
1 | USH2A-E2238A | het unknown | 0.016 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 4 Polyphen 2: 0.998 (probably damaging), Testable gene in GeneTests with associated GeneReview |
1 | USH2A-I2169T | het unknown | 0.575 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
1 | USH2A-R1486K | het unknown | 0.646 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: 0.063 (benign), Testable gene in GeneTests with associated GeneReview |
1 | USH2A-G713R | het unknown | 0.075 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 4 Polyphen 2: 1.0 (probably damaging), Testable gene in GeneTests with associated GeneReview |
1 | USH2A-A125T | homozygous | 0.777 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
1 | FAM58A-G4Shift | homozygous | Unknown | Insufficiently evaluated | Prioritization score: 3 Frameshift, Testable gene in GeneTests | |
1 | AX746903-T82Shift | homozygous | Unknown | Insufficiently evaluated | Prioritization score: 2 Frameshift | |
1 | TRIM64-R162S | homozygous | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown | |
1 | TRIM64-V238M | homozygous | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: Unknown | |
1 | TRIM64-E242V | homozygous | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: Unknown | |
1 | TRIM64-Q358R | homozygous | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: Unknown | |
1 | TRIM64-Q405R | homozygous | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown | |
1 | KRTAP7-1-I61S | het unknown | Unknown | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: Unknown | |
1 | KRTAP7-1-S51P | het unknown | Unknown | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: Unknown | |
1 | KRTAP7-1-Y17Shift | homozygous | Unknown | Insufficiently evaluated | Prioritization score: 2 Frameshift | |
1 | HLA-DQB1-T217I | het unknown | 0.256 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
1 | HLA-DQB1-S214N | het unknown | 0.333 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
1 | HLA-DQB1-A172T | het unknown | 0.342 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
1 | HLA-DQB1-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-Y62S | homozygous | Unknown | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview | |
1 | HLA-DQB1-T60S | homozygous | 0.009 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
1 | HLA-DQB1-S27T | homozygous | 0.206 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
1 | HLA-DQB1-D12G | homozygous | 0.395 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
1 | BACH1-G471A | het unknown | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 4 Polyphen 2: 0.937 (probably damaging), Testable gene in GeneTests with associated GeneReview | |
1 | F5-L1285I | homozygous | 0.172 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
1 | F5-Q534R | homozygous | 0.991 | Unknown pharmacogenetic | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
0.75 | BANK1-R61H | het unknown | 0.221 | Unknown pathogenic | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
0.75 | BANK1-A383T | het unknown | 0.233 | Unknown pharmacogenetic | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: 0.778 (possibly damaging) |
0.75 | BANK1-C650R | homozygous | 0.990 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
0.75 | AKAP10-I646V | het unknown | 0.434 | Unknown pathogenic | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
0.75 | AKAP10-R249H | het unknown | 0.427 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
0.75 | 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 |
0.75 | SYNE1-F7302V | homozygous | 0.991 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
0.75 | SYNE1-W7132* | het unknown | Unknown | Insufficiently evaluated | Prioritization score: 4 Nonsense mutation, Testable gene in GeneTests with associated GeneReview | |
0.75 | SYNE1-L5015M | homozygous | 0.866 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
0.75 | SYNE1-S4596T | homozygous | 0.800 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
0.75 | SYNE1-K4121R | homozygous | 0.835 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
0.75 | SYNE1-E4060D | homozygous | 0.539 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.005 (benign), Testable gene in GeneTests with associated GeneReview |
0.75 | SYNE1-D1730E | het unknown | 0.031 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.001 (benign), Testable gene in GeneTests with associated GeneReview |
0.75 | SYNE1-V1035A | het unknown | 0.632 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.673 (possibly damaging), Testable gene in GeneTests with associated GeneReview |
0.75 | SYNE1-L885V | het unknown | 0.014 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.006 (benign), Testable gene in GeneTests with associated GeneReview |
0.75 | CHRNA5-D398N | het unknown | 0.158 | Unknown pathogenic | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: 0.003 (benign) |
0.75 | CILP-G1166S | homozygous | 0.766 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
0.75 | CILP-Q979R | homozygous | 0.986 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
0.75 | CILP-K575E | homozygous | 0.974 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
0.75 | CILP-I395T | het unknown | 0.491 | Unknown pathogenic | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
0.5 | HLA-H-D19Y | het unknown | Unknown | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview | |
0.5 | HLA-H-P32Q | het unknown | 0.060 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
0.5 | HLA-H-E34M | het unknown | Unknown | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview | |
0.5 | HLA-H-Q61R | het unknown | 0.288 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
0.5 | HLA-H-C238S | homozygous | 0.729 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
0.5 | LRP11-P92R | het unknown | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.988 (probably damaging) | |
0.5 | PMS2-K541E | homozygous | 0.904 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
0.5 | PMS2-T511A | het unknown | 0.016 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: 0.001 (benign), Testable gene in GeneTests with associated GeneReview |
0.5 | PMS2-P470S | het unknown | Unknown benign | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: 0.006 (benign), Testable gene in GeneTests with associated GeneReview | |
0.5 | BCLAF1-S209C | het unknown | 0.004 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.96 (probably damaging) |
0.5 | BCLAF1-G66A | het unknown | 0.500 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
0.5 | BCLAF1-R45M | het unknown | 0.040 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: Unknown |
0.5 | NHLRC1-P111L | het unknown | 0.250 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 4 Polyphen 2: 0.992 (probably damaging), Testable gene in GeneTests with associated GeneReview |
0.5 | DCDC2-S221G | het unknown | 0.447 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
0.5 | DCDC2-P152A | het unknown | 0.031 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: 0.999 (probably damaging) |
0.5 | F13A1-Y205F | het unknown | 0.005 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests |
0.5 | JARID2-R492C | het unknown | 0.008 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.854 (probably damaging) |
0.5 | SLC22A2-S270A | homozygous | 0.876 | Unknown pharmacogenetic | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
0.5 | FLT4-R1146H | het unknown | 0.032 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: 0.003 (benign), Testable gene in GeneTests with associated GeneReview |
0.5 | FLT4-H890Q | het unknown | 0.355 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.714 (possibly damaging), Testable gene in GeneTests with associated GeneReview |
0.5 | TRIM7-G363S | het unknown | 0.181 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
0.5 | TRIM7-V258A | het unknown | 0.487 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
0.5 | TRIM7-Q95E | het unknown | 0.029 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.923 (probably damaging) |
0.5 | SKIV2L-Q151R | het unknown | 0.102 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
0.5 | SKIV2L-M214L | homozygous | 0.823 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
0.5 | SKIV2L-V917M | het unknown | 0.018 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown |
0.5 | SKIV2L-A1071V | het unknown | 0.176 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
0.5 | LAMA2-R619H | het unknown | 0.300 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests |
0.5 | LAMA2-R1844S | het unknown | 0.023 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests |
0.5 | LAMA2-A2585V | homozygous | 0.594 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: Unknown, Testable gene in GeneTests |
0.5 | PKHD1-Q4048R | homozygous | 0.566 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
0.5 | PKHD1-Q3899R | homozygous | 0.546 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
0.5 | PKHD1-R3842L | het unknown | 0.016 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
0.5 | PKHD1-L1870V | homozygous | 0.905 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
0.5 | PKHD1-A1262V | homozygous | 0.239 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
0.5 | PKHD1-R760C | homozygous | 0.318 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
0.5 | EFHC1-R182H | het unknown | 0.038 | Unknown benign | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.038 (benign), Testable gene in GeneTests |
0.5 | EYS-R2326Q | het unknown | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests | |
0.5 | EYS-N1902I | homozygous | 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 | homozygous | 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 | homozygous | 0.655 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: Unknown, Testable gene in GeneTests |
0.5 | EYS-G631S | homozygous | 0.596 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: Unknown, Testable gene in GeneTests |
0.5 | EYS-Q571R | homozygous | 0.108 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: Unknown, Testable gene in GeneTests |
0.5 | PRPH2-D338G | homozygous | 0.761 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests |
0.5 | PRPH2-R310K | homozygous | 0.943 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests |
0.5 | PRPH2-Q304E | homozygous | 0.877 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests |
0.5 | KIF6-W719R | homozygous | 0.538 | Unknown pharmacogenetic | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: 0.01 (benign) |
0.5 | COL11A2-P894L | het unknown | 0.088 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: 0.996 (probably damaging), Testable gene in GeneTests with associated GeneReview |
0.5 | COL11A2-E276K | het unknown | 0.320 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: 0.651 (possibly damaging), Testable gene in GeneTests with associated GeneReview |
0.5 | TULP1-K261N | homozygous | 0.805 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
0.5 | TULP1-I259T | homozygous | 0.344 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
0.5 | TULP1-T67R | homozygous | 0.877 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
0.5 | CLPS-R109C | het unknown | 0.008 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: 0.977 (probably damaging) |
0.5 | DNAH11-E34L | homozygous | 0.335 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
0.5 | DNAH11-Q639R | het unknown | 0.149 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
0.5 | DNAH11-S654C | het unknown | 0.078 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
0.5 | DNAH11-T1038A | homozygous | 0.747 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
0.5 | DNAH11-N2641S | homozygous | 0.367 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
0.5 | DNAH11-S3765P | het unknown | 0.152 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
0.5 | DNAH11-M4172V | het unknown | 0.334 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
0.5 | DNAH11-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 | NOTCH4-C815G | het unknown | 0.008 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.999 (probably damaging) |
0.5 | NOTCH4-K117Q | het unknown | 0.391 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
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: 3 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
0.5 | ROS1-S1109L | het unknown | 0.040 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.284 (possibly damaging) |
0.5 | ROS1-T145P | het unknown | 0.157 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: 0.993 (probably damaging) |
0.5 | CCHCR1-R506Q | het unknown | 0.008 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown |
0.5 | CCHCR1-E364D | het unknown | 0.224 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
0.5 | CCHCR1-S253R | het unknown | 0.371 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
0.5 | CCHCR1-W78* | homozygous | 0.460 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 1 Nonsense mutation |
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 | LAMA4-Y498H | het unknown | 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: 3 Polyphen 2: 0.999 (probably damaging) |
0.5 | AIM1-Q293P | het unknown | 0.181 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
0.5 | AIM1-C491R | het unknown | 0.181 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: 0.091 (benign) |
0.5 | AIM1-E1196A | homozygous | 0.935 | Unknown pharmacogenetic | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: 0.015 (benign) |
0.5 | AIM1-C1395Y | homozygous | 0.243 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: 0.958 (probably damaging) |
0.5 | LCA5-G656D | homozygous | 0.377 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
0.5 | LCA5-D26A | het unknown | 0.172 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 4 Polyphen 2: 0.998 (probably damaging), Testable gene in GeneTests with associated GeneReview |
0.5 | LCA5-L24S | homozygous | 0.904 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.001 (benign), Testable gene in GeneTests with associated GeneReview |
0.5 | TNXB-P2731R | het unknown | 0.047 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
0.5 | TNXB-G2518E | homozygous | 0.658 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
0.5 | TNXB-H1161R | het unknown | 0.568 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
0.5 | HSPA1L-E602K | het unknown | 0.225 | Unknown pharmacogenetic | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: 0.001 (benign) |
0.5 | HSPA1L-T493M | homozygous | 0.868 | Unknown pharmacogenetic | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: 0.001 (benign) |
0.5 | MICA-W37G | het unknown | 0.203 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
0.5 | MICA-Y59C | het unknown | 0.293 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
0.5 | MICA-L145V | het unknown | 0.191 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
0.5 | MICA-V152M | het unknown | 0.314 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
0.5 | MICA-E196K | het unknown | 0.363 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
0.5 | MICA-G198S | het unknown | 0.337 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
0.5 | MICA-T204R | het unknown | 0.008 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: Unknown |
0.5 | MICA-S229G | het unknown | 0.320 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
0.5 | MICA-R233W | het unknown | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown | |
0.5 | MICA-I236T | homozygous | 0.570 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
0.5 | MICA-R274Q | homozygous | 0.538 | Unknown pharmacogenetic | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
0.5 | MICA-C329R | het unknown | 0.206 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
0.5 | MICA-P330L | het unknown | 0.262 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
0.5 | ASAH1-V246A | homozygous | 0.797 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: Unknown, Testable gene in GeneTests |
0.5 | ASAH1-I93V | homozygous | 0.384 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests |
0.5 | ASAH1-V72M | homozygous | 0.386 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests |
0.5 | HOXA1-R73H | homozygous | 0.743 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests |
0.5 | NDOR1-R30G | het unknown | 0.045 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.894 (probably damaging) |
0.5 | NOTCH1-V2285I | het unknown | 0.009 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests |
0.5 | TTLL10-V249A | het unknown | 0.009 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown |
0.5 | TTLL10-S448N | het unknown | 0.220 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
0.5 | PNPLA7-W1080R | homozygous | 0.994 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
0.5 | PNPLA7-V828A | homozygous | 0.993 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
0.5 | PNPLA7-S8Shift | het unknown | 0.008 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Frameshift |
0.5 | CUBN-S2717W | homozygous | 0.998 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests |
0.5 | CUBN-P2575R | het unknown | 0.070 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests |
0.5 | CUBN-C2162Y | homozygous | 1.000 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: Unknown, Testable gene in GeneTests |
0.5 | CUBN-S1935G | het unknown | 0.127 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: Unknown, Testable gene in GeneTests |
0.5 | CUBN-P1559S | homozygous | 0.565 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: Unknown, Testable gene in GeneTests |
0.5 | CUBN-F253S | het unknown | 0.801 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: Unknown, Testable gene in GeneTests |
0.5 | OPTN-K322E | homozygous | 0.986 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests |
0.5 | SARDH-M648V | homozygous | 0.599 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: Unknown, Testable gene in GeneTests |
0.5 | SARDH-R614H | homozygous | 0.362 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.057 (benign), Testable gene in GeneTests |
0.5 | ADAMTS13-Q448E | homozygous | 0.211 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests |
0.5 | COL15A1-P705L | het unknown | 0.016 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: 0.997 (probably damaging) |
0.5 | GALNT12-E119V | het unknown | 0.028 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.881 (probably damaging) |
0.5 | BAAT-R20Q | homozygous | 0.569 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.136 (benign), Testable gene in GeneTests |
0.5 | DFNB31-N796K | het unknown | 0.197 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
0.5 | DFNB31-V783A | het unknown | 0.405 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
0.5 | DFNB31-H752Q | homozygous | 0.983 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
0.5 | DFNB31-M613T | het unknown | 0.487 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
0.5 | DFNB31-P562A | het unknown | 0.036 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
0.5 | DFNB31-A440T | het unknown | 0.197 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
0.5 | DFNB31-R364H | homozygous | 0.968 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
0.5 | ABL1-S972L | het unknown | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown | |
0.5 | CDK5RAP2-V1540L | homozygous | 0.714 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
0.5 | CDK5RAP2-E289Q | homozygous | 0.801 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
0.5 | PTCHD3-*768Q | homozygous | 0.570 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
0.5 | PTCHD3-I584M | homozygous | 0.963 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
0.5 | PTCHD3-M521T | homozygous | 0.498 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
0.5 | PTCHD3-D473G | homozygous | 0.499 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: 0.849 (possibly damaging) |
0.5 | PTCHD3-C407G | het unknown | 0.490 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: 1.0 (probably damaging) |
0.5 | PTCHD3-S309Shift | het unknown | 0.016 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Frameshift |
0.5 | ERCC6-Q1413R | het unknown | 0.145 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: 0.004 (benign), Testable gene in GeneTests with associated GeneReview |
0.5 | ERCC6-R1213G | het unknown | 0.159 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 4 Polyphen 2: 0.957 (probably damaging), Testable gene in GeneTests with associated GeneReview |
0.5 | ERCC6-M1097V | het unknown | 0.153 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
0.5 | AX746750-S137Shift | het unknown | 0.010 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Frameshift |
0.5 | ABCC2-Y39F | homozygous | 0.990 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests |
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-G436R | het unknown | Unknown | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview | |
0.5 | COL17A1-G428S | homozygous | 0.771 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
0.5 | COL17A1-T210M | homozygous | 0.557 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
0.5 | HABP2-T50M | het unknown | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests | |
0.5 | ADRB1-G389R | homozygous | 0.705 | Unknown pharmacogenetic | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
0.5 | HABP2-S32I | het unknown | 0.008 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests |
0.5 | FRAT2-A83T | het unknown | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.607 (possibly damaging) | |
0.5 | PLCE1-R548L | het unknown | 0.188 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: 0.998 (probably damaging), Testable gene in GeneTests |
0.5 | PLCE1-R1575P | homozygous | 0.517 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests |
0.5 | PLCE1-T1777I | het unknown | 0.342 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests |
0.5 | PLCE1-H1927R | het unknown | 0.328 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.002 (benign), Testable gene in GeneTests |
0.5 | ANK3-K3123R | het unknown | 0.110 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
0.5 | ANK3-Q2996H | het unknown | 0.023 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown |
0.5 | CHAT-A120T | het unknown | 0.149 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: 0.013 (benign), Testable gene in GeneTests with associated GeneReview |
0.5 | CHAT-V461M | homozygous | 0.927 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
0.5 | SLC29A3-R18G | homozygous | 0.486 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests |
0.5 | SLC29A3-S158F | homozygous | 0.453 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: Unknown, Testable gene in GeneTests |
0.5 | SLC29A3-V239I | homozygous | 0.771 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests |
0.5 | SLC29A3-I326V | homozygous | 0.824 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: Unknown, Testable gene in GeneTests |
0.5 | CDH23-N1349D | homozygous | 0.772 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
0.5 | CDH23-A1572T | homozygous | 0.720 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
0.5 | CDH23-E2041K | het unknown | 0.344 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
0.5 | CDH23-R2355Q | het unknown | 0.349 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
0.5 | CDH23-P2377L | het unknown | 0.338 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
0.5 | CDH23-F3122L | het unknown | 0.055 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
0.5 | MYOF-R1783Q | het unknown | 0.042 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 1.0 (probably damaging) |
0.5 | ZMYND17-L417P | het unknown | 0.010 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.27 (possibly damaging) |
0.5 | FAM75A6-Q1020Shift | het unknown | Unknown | Insufficiently evaluated | Prioritization score: 2 Frameshift | |
0.5 | FAM75A6-S1017* | het unknown | Unknown | Insufficiently evaluated | Prioritization score: 2 Nonsense mutation | |
0.5 | DNAI1-A8S | het unknown | 0.047 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: 0.001 (benign), Testable gene in GeneTests with associated GeneReview |
0.5 | AF035281-S47Shift | het unknown | 0.031 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Frameshift |
0.5 | AF035281-Q119R | het unknown | 0.697 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
0.5 | ZNF212-H293Y | het unknown | 0.008 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.777 (possibly damaging) |
0.5 | NOS3-D298E | homozygous | 0.844 | Unknown pharmacogenetic | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: Unknown |
0.5 | MCPH1-R171S | homozygous | 0.865 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
0.5 | MCPH1-R304I | het unknown | 0.075 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: 0.999 (probably damaging), Testable gene in GeneTests with associated GeneReview |
0.5 | MCPH1-D314H | het unknown | 0.648 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: 0.136 (benign), Testable gene in GeneTests with associated GeneReview |
0.5 | MCPH1-D392G | homozygous | 0.979 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
0.5 | MCPH1-T682N | het unknown | 0.148 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: 0.993 (probably damaging), Testable gene in GeneTests with associated GeneReview |
0.5 | MCPH1-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 | GRM6-L698V | het unknown | 0.008 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: 0.924 (probably damaging), Testable gene in GeneTests |
0.5 | PCM1-N159S | het unknown | 0.728 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
0.5 | PCM1-M597V | homozygous | 0.733 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: 0.001 (benign) |
0.5 | PCM1-R1251H | het unknown | 0.010 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: 0.986 (probably damaging) |
0.5 | CLCN1-G118W | homozygous | 0.995 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
0.5 | CLCN1-P727L | het unknown | 0.325 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
0.5 | ATP6V0A4-V2A | homozygous | 0.680 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests |
0.5 | DDC-M17V | homozygous | 0.979 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests |
0.5 | EPDR1-A36Shift | het unknown | 0.012 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Frameshift |
0.5 | AKAP9-M463I | het unknown | 0.376 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: Unknown, Testable gene in GeneTests |
0.5 | AKAP9-K1335KQ | het unknown | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests | |
0.5 | AKAP9-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 | CYP3A7-R409T | homozygous | 0.669 | Unknown pharmacogenetic | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
0.5 | CFTR-V470M | homozygous | 0.621 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
0.5 | RELN-S630R | het unknown | 0.008 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: 0.65 (possibly damaging), Testable gene in GeneTests |
0.5 | NAT2-I114T | homozygous | 0.220 | Recessive pharmacogenetic | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
0.5 | BHLHE22-S28A | het unknown | 0.263 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
0.5 | BHLHE22-L62Q | het unknown | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.889 (probably damaging) | |
0.5 | BOP1-D78Shift | het unknown | Unknown | Insufficiently evaluated | Prioritization score: 2 Frameshift | |
0.5 | BOP1-D78Shift | het unknown | Unknown | Insufficiently evaluated | Prioritization score: 2 Frameshift | |
0.5 | SHARPIN-P294S | het unknown | 0.034 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.995 (probably damaging) |
0.5 | AK094577-C82Shift | het unknown | 0.041 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Frameshift |
0.5 | RECQL4-R1005Q | het unknown | 0.258 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
0.5 | RECQL4-R766Shift | homozygous | 0.278 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 3 Frameshift, Testable gene in GeneTests with associated GeneReview |
0.5 | RECQL4-E267D | het unknown | 0.471 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
0.5 | RECQL4-S92P | homozygous | 1.000 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
0.5 | KIF24-W218L | het unknown | 0.050 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.999 (probably damaging) |
0.5 | KIF24-M140V | het unknown | 0.347 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: 0.091 (benign) |
0.5 | DOCK8-A22V | het unknown | 0.291 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: 0.009 (benign), Testable gene in GeneTests |
0.5 | DOCK8-D63N | het unknown | 0.079 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.99 (probably damaging), Testable gene in GeneTests |
0.5 | DOCK8-P97T | het unknown | 0.512 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.961 (probably damaging), Testable gene in GeneTests |
0.5 | DOCK8-N413S | het unknown | 0.193 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: 0.19 (benign), Testable gene in GeneTests |
0.5 | DOCK8-A597V | het unknown | 0.034 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: 0.96 (probably damaging), Testable gene in GeneTests |
0.5 | PLEC-R2969H | het unknown | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview | |
0.5 | PLEC-S2791P | het unknown | 0.272 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
0.5 | PLEC-A2194V | het unknown | 0.210 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
0.5 | PLEC-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 | CYP11B2-V386A | het unknown | 0.029 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests |
0.5 | XKR9-L222F | het unknown | 0.016 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.3 (possibly damaging) |
0.5 | PDE7A-R430K | het unknown | 0.031 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: 0.861 (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: 3 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: 3 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
0.5 | TG-S734A | het unknown | 0.698 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests |
0.5 | TG-M1028V | het unknown | 0.696 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: 0.003 (benign), Testable gene in GeneTests |
0.5 | TG-D1312G | het unknown | 0.344 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests |
0.5 | TG-D1838N | het unknown | 0.304 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: 0.061 (benign), Testable gene in GeneTests |
0.5 | TG-R1999W | het unknown | 0.372 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: Unknown, Testable gene in GeneTests |
0.5 | TG-R2530Q | homozygous | 0.586 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.003 (benign), Testable gene in GeneTests |
0.5 | TMEM67-I604V | homozygous | 0.710 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
0.5 | AGA-T149S | homozygous | 0.925 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests |
0.5 | PROP1-N20S | homozygous | 1.000 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
0.5 | MTR-D919G | het unknown | 0.262 | Complex/Other protective | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: 0.777 (possibly damaging), Testable gene in GeneTests with associated GeneReview |
0.5 | IRF2BP2-A254V | het unknown | 0.033 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown |
0.5 | RYR2-Q2958R | homozygous | 0.133 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
0.5 | TPO-A257S | homozygous | 0.387 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests |
0.5 | TPO-T725P | homozygous | 0.524 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests |
0.5 | TPO-V847A | homozygous | 0.674 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.001 (benign), Testable gene in GeneTests |
0.5 | HS1BP3-A388T | het unknown | 0.155 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: 0.012 (benign) |
0.5 | HS1BP3-P348R | het unknown | 0.008 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.916 (probably damaging) |
0.5 | HS1BP3-V260M | het unknown | 0.389 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
0.5 | AX746649-W43* | het unknown | 0.008 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Nonsense mutation |
0.5 | PCNXL2-H1176Y | het unknown | 0.008 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.955 (probably damaging) |
0.5 | PCNXL2-R117K | homozygous | 0.252 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
0.5 | EPHX1-Y113H | het unknown | 0.290 | Unknown pharmacogenetic | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.997 (probably damaging) |
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 | CACNA1S-L458H | het unknown | Unknown benign | Insufficiently evaluated | Prioritization score: 4 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview | |
0.5 | ASPM-Y2494H | homozygous | 0.992 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
0.5 | GPATCH2-M474V | het unknown | 0.008 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: 0.999 (probably damaging) |
0.5 | RAB3GAP2-S1092T | het unknown | 0.043 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.924 (probably damaging) |
0.5 | ENAH-G346Shift | het unknown | Unknown | Insufficiently evaluated | Prioritization score: 2 Frameshift | |
0.5 | ENAH-L342Shift | het unknown | Unknown | Insufficiently evaluated | Prioritization score: 2 Frameshift | |
0.5 | LBR-S154N | homozygous | 0.713 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests |
0.5 | ITSN2-A1534T | homozygous | 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-R441K | het unknown | Unknown | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: Unknown | |
0.5 | ITSN2-V291I | homozygous | 0.339 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
0.5 | GCKR-L446P | homozygous | 0.673 | Unknown pharmacogenetic | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
0.5 | LCT-I362V | homozygous | 0.944 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests |
0.5 | CFC1-W78R | homozygous | 0.966 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests |
0.5 | NEB-I6534V | het unknown | 0.372 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
0.5 | NEB-A6277P | het unknown | 0.691 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
0.5 | NEB-R4389T | het unknown | 0.724 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
0.5 | NEB-M3461I | het unknown | Unknown | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview | |
0.5 | NEB-W3348C | het unknown | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 3 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-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: 3 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
0.5 | NEB-K1027N | homozygous | 0.476 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
0.5 | STAM2-T39Shift | het unknown | 0.008 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Frameshift |
0.5 | SCN2A-R19K | het unknown | 0.077 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: 0.956 (probably damaging), Testable gene in GeneTests |
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 | homozygous | 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 | het unknown | 0.488 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
0.5 | LY75-D692N | het unknown | 0.087 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: 0.519 (possibly damaging) |
0.5 | LY75-E268D | het unknown | 0.174 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: 0.018 (benign) |
0.5 | MERTK-R466K | homozygous | 0.550 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests |
0.5 | MERTK-I518V | homozygous | 0.550 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests |
0.5 | NPHP1-P39T | het unknown | 0.016 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.052 (benign), Testable gene in GeneTests with associated GeneReview |
0.5 | ALK-D1529E | homozygous | 0.606 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
0.5 | ALK-K1491R | het unknown | 0.405 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: 0.009 (benign), Testable gene in GeneTests with associated GeneReview |
0.5 | ALK-I1461V | homozygous | 0.982 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
0.5 | C2orf71-S1225SS | het unknown | Unknown | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests | |
0.5 | C2orf71-L792V | het unknown | Unknown | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests | |
0.5 | SRD5A2-L88V | homozygous | 0.636 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: Unknown, Testable gene in GeneTests |
0.5 | SRD5A2-A48T | het unknown | 0.018 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests |
0.5 | LHCGR-N312S | homozygous | 0.573 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests |
0.5 | EIF2AK3-S721Y | het unknown | Unknown | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests | |
0.5 | EIF2AK3-A704S | homozygous | 0.756 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests |
0.5 | EIF2AK3-Q166R | het unknown | 0.690 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests |
0.5 | ALMS1-R392C | het unknown | 0.409 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
0.5 | ALMS1-S524SP | het unknown | 0.578 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
0.5 | ALMS1-V671G | homozygous | 0.857 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
0.5 | ALMS1-G1414A | het unknown | 0.328 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
0.5 | ALMS1-I1875V | het unknown | 0.405 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
0.5 | ALMS1-I2070T | het unknown | 0.066 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
0.5 | ALMS1-S2111R | het unknown | 0.327 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
0.5 | ALMS1-R2284P | het unknown | 0.328 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
0.5 | ALMS1-R2826S | het unknown | 0.404 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
0.5 | ALMS1-N2856S | het unknown | 0.372 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
0.5 | ALMS1-R4029K | het unknown | 0.527 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
0.5 | RTN4-D357V | het unknown | 0.029 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.999 (probably damaging) |
0.5 | PRG4-R180W | homozygous | 0.225 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 1.0 (probably damaging) |
0.5 | PRG4-T604A | homozygous | 0.144 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
0.5 | PRG4-C746S | homozygous | 1.000 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
0.5 | NCF2-P454S | het unknown | Unknown | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests | |
0.5 | NCF2-H389Q | het unknown | Unknown | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests | |
0.5 | NCF2-K181R | homozygous | 0.471 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests |
0.5 | CPT2-V368I | het unknown | 0.477 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
0.5 | CPT2-M647V | het unknown | 0.093 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: 0.462 (possibly damaging), Testable gene in GeneTests with associated GeneReview |
0.5 | STIL-H985R | homozygous | 0.172 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.648 (possibly damaging), Testable gene in GeneTests with associated GeneReview |
0.5 | STIL-A86V | homozygous | 0.633 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
0.5 | TACSTD2-D216E | het unknown | 0.158 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: 0.001 (benign) |
0.5 | TACSTD2-E147D | het unknown | 0.034 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.738 (possibly damaging) |
0.5 | INADL-P336H | het unknown | Unknown | Insufficiently evaluated | Prioritization score: 1 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-R1282H | het unknown | 0.497 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: 0.01 (benign) |
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: 2 Polyphen 2: 0.026 (benign), Testable gene in GeneTests |
0.5 | LEPR-Q223R | homozygous | 0.569 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.484 (possibly damaging), Testable gene in GeneTests |
0.5 | L1TD1-V246A | homozygous | 0.554 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
0.5 | L1TD1-V309M | homozygous | 0.508 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
0.5 | L1TD1-K329N | het unknown | 0.089 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
0.5 | L1TD1-L602Shift | het unknown | 0.016 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Frameshift |
0.5 | L1TD1-T613I | het unknown | 0.111 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: 0.992 (probably damaging) |
0.5 | POMGNT1-M623V | homozygous | 0.878 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests |
0.5 | BMP8B-R389H | het unknown | 0.008 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.97 (probably damaging) |
0.5 | MTHFR-A222V | het unknown | 0.250 | Unknown pharmacogenetic | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: 0.858 (probably damaging), Testable gene in GeneTests |
0.5 | PLEKHG5-E779Del | het unknown | 0.024 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests |
0.5 | PLEKHG5-A470T | het unknown | 0.067 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: Unknown, Testable gene in GeneTests |
0.5 | PLEKHG5-T294S | het unknown | 0.267 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: Unknown, Testable gene in GeneTests |
0.5 | CLCNKB-R27L | homozygous | 0.994 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: Unknown, Testable gene in GeneTests |
0.5 | CLCNKB-A214G | homozygous | 0.815 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: Unknown, Testable gene in GeneTests |
0.5 | CLCNKB-A287V | homozygous | 0.820 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: Unknown, Testable gene in GeneTests |
0.5 | CLCNKB-M562T | homozygous | 0.856 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests |
0.5 | CROCC-R7G | homozygous | 1.000 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
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-T1072M | het unknown | 0.059 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: 0.994 (probably damaging) |
0.5 | CROCC-S2012SPPS | het unknown | Unknown | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: Unknown | |
0.5 | SEPN1-C108Y | het unknown | 0.789 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
0.5 | SEPN1-N467K | het unknown | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview | |
0.5 | LDLRAP1-R9G | het unknown | Unknown | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests | |
0.5 | LDLRAP1-S202P | homozygous | 0.473 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.803 (possibly damaging), Testable gene in GeneTests |
0.5 | NEGR1-Y347S | het unknown | 0.023 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.991 (probably damaging) |
0.5 | MSH4-Y589C | het unknown | 0.008 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.963 (probably damaging) |
0.5 | KCNJ9-A366V | het unknown | 0.018 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown |
0.5 | RHBG-G76D | het unknown | 0.236 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
0.5 | RHBG-G315R | het unknown | 0.550 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
0.5 | RHBG-P424Shift | het unknown | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Frameshift | |
0.5 | RHBG-H428R | het unknown | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: Unknown | |
0.5 | SLAMF1-P333T | het unknown | 0.043 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.999 (probably damaging) |
0.5 | PVRL4-P104T | het unknown | 0.048 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.999 (probably damaging) |
0.5 | MYOC-K398R | het unknown | 0.008 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.008 (benign), Testable gene in GeneTests |
0.5 | FMO4-G372S | het unknown | 0.016 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown |
0.5 | FLG-HQ2716PK | het unknown | Unknown | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview | |
0.5 | FLG-Q1914R | het unknown | 0.034 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 3 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 | ABCA4-H423R | homozygous | 0.232 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests |
0.5 | GBP2-S303G | het unknown | 0.622 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
0.5 | GBP2-P285A | het unknown | 0.642 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
0.5 | GBP2-S281P | het unknown | 0.044 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown |
0.5 | DPYD-I543V | het unknown | 0.199 | Unknown pharmacogenetic | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests |
0.5 | AGL-P1067S | het unknown | 0.125 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 4 Polyphen 2: 0.984 (probably damaging), Testable gene in GeneTests with associated GeneReview |
0.5 | NGF-A35V | homozygous | 0.244 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.123 (benign), Testable gene in GeneTests |
0.5 | COL11A1-P1335L | het unknown | 0.479 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
0.5 | COL11A1-D46E | het unknown | 0.051 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
0.5 | DBT-S384G | homozygous | 0.869 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
0.5 | SCN1A-A1056T | homozygous | 0.806 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
0.5 | ABCB11-V444A | homozygous | 0.606 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: 0.002 (benign), Testable gene in GeneTests with associated GeneReview |
0.5 | TACC2-W1103R | homozygous | 0.964 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: 0.003 (benign) |
0.5 | TACC2-T2482M | het unknown | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.997 (probably damaging) | |
0.5 | TACC2-S2909T | het unknown | 0.023 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.981 (probably damaging) |
0.5 | NR3C2-V180I | homozygous | 0.883 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests |
0.5 | SLC6A3-S360F | het unknown | Unknown | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests | |
0.5 | SLC6A3-S360Shift | het unknown | Unknown | Insufficiently evaluated | Prioritization score: 3 Frameshift, Testable gene in GeneTests | |
0.5 | DNAH5-L2862F | homozygous | 0.212 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.006 (benign), Testable gene in GeneTests with associated GeneReview |
0.5 | DNAH5-G24E | homozygous | 0.496 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
0.5 | DNAH5-H12Q | homozygous | 0.896 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
0.5 | MOCS2-T50A | het unknown | 0.048 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.725 (possibly damaging), Testable gene in GeneTests |
0.5 | AMACR-E277K | homozygous | 0.724 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests |
0.5 | AMACR-L201S | het unknown | 0.738 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests |
0.5 | AMACR-G175D | het unknown | 0.257 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests |
0.5 | AMACR-V9M | het unknown | 0.368 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests |
0.5 | SYNPO2-R147Del | het unknown | 0.273 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
0.5 | SYNPO2-T573A | het unknown | 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 | PRSS12-R833Q | het unknown | 0.047 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.982 (probably damaging) |
0.5 | PRSS12-R55T | homozygous | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: 0.004 (benign) | |
0.5 | UGT2A1-Y192* | het unknown | 0.024 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Nonsense mutation |
0.5 | UGT2A1-R75K | homozygous | 0.998 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
0.5 | EVC-Y258H | het unknown | 0.721 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: 0.985 (probably damaging), Testable gene in GeneTests |
0.5 | EVC-T449K | homozygous | 0.871 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests |
0.5 | PDHA2-D194Y | het unknown | Unknown | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: Unknown | |
0.5 | PDHA2-R286P | het unknown | 0.023 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 1.0 (probably damaging) |
0.5 | ADH1B-H48R | homozygous | 0.678 | Unknown pharmacogenetic | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
0.5 | CFI-T300A | homozygous | 0.957 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
0.5 | HADH-L86P | homozygous | 0.859 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
0.5 | HEXB-L62S | homozygous | 0.978 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests |
0.5 | HEXB-K121R | het unknown | 0.227 | Unknown benign | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests |
0.5 | AP3B1-V585E | homozygous | 0.806 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: 0.002 (benign), Testable gene in GeneTests with associated GeneReview |
0.5 | 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-P1139R | het unknown | 0.211 | 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 | FAT2-P4117L | het unknown | 0.772 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
0.5 | FAT2-M3631I | het unknown | 0.752 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: 0.129 (benign) |
0.5 | FAT2-L3514S | het unknown | 0.765 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
0.5 | FAT2-R3318W | het unknown | 0.132 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: 0.914 (probably damaging) |
0.5 | FAT2-F2428S | homozygous | 1.000 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
0.5 | FAT2-Y1181H | homozygous | 1.000 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
0.5 | FAT2-P1164L | het unknown | 0.361 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: 0.005 (benign) |
0.5 | FAT2-G1004S | het unknown | 0.400 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
0.5 | FAT2-F686S | het unknown | 0.420 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
0.5 | FAT2-R574C | het unknown | 0.416 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: 0.967 (probably damaging) |
0.5 | FAT2-V444A | het unknown | 0.031 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.968 (probably damaging) |
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 | F12-A207P | homozygous | 0.951 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests |
0.5 | MSX2-M129T | homozygous | 0.716 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
0.5 | PCDHB7-S568G | het unknown | 0.031 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown |
0.5 | PCDHB7-PL575LV | het unknown | 0.025 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: Unknown |
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 | ERAP2-K392N | homozygous | 0.540 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
0.5 | ERAP2-N501Shift | het unknown | 0.024 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Frameshift |
0.5 | GPR98-L1093F | homozygous | 0.835 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
0.5 | GPR98-V1951I | homozygous | 0.820 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
0.5 | GPR98-P1987L | het unknown | 0.333 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.366 (possibly damaging), Testable gene in GeneTests with associated GeneReview |
0.5 | GPR98-Y2232C | het unknown | 0.349 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 4 Polyphen 2: 0.989 (probably damaging), Testable gene in GeneTests with associated GeneReview |
0.5 | GPR98-N2345S | het unknown | 0.304 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: 0.999 (probably damaging), Testable gene in GeneTests with associated GeneReview |
0.5 | GPR98-N2584S | homozygous | 0.825 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
0.5 | GPR98-V3094I | het unknown | 0.039 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
0.5 | GPR98-E3471K | homozygous | 0.834 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
0.5 | GPR98-E3867K | het unknown | 0.356 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
0.5 | GPR98-E5344G | homozygous | 0.903 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.003 (benign), Testable gene in GeneTests with associated GeneReview |
0.5 | GPR98-V5427M | homozygous | 0.918 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
0.5 | GPR98-V5876I | homozygous | 0.424 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: 0.94 (probably damaging), Testable gene in GeneTests with associated GeneReview |
0.5 | SLCO6A1-A27V | het unknown | 0.019 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.275 (possibly damaging) |
0.5 | APC-V1822D | homozygous | 0.887 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
0.5 | WDR55-C151R | homozygous | 0.874 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: 0.002 (benign) |
0.5 | WDR55-Y235C | het unknown | 0.031 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.986 (probably damaging) |
0.5 | LECT2-G63E | het unknown | 0.008 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown |
0.5 | LECT2-I58V | het unknown | 0.621 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
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 | DOK7-P415S | het unknown | 0.083 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: 0.928 (probably damaging), Testable gene in GeneTests with associated GeneReview |
0.5 | TNIP2-R73G | het unknown | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.989 (probably damaging) | |
0.5 | COL4A3-G43R | het unknown | 0.239 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
0.5 | COL4A3-L141P | 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: 3 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: 3 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
0.5 | COL4A4-S1400P | het unknown | 0.504 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
0.5 | COL4A4-V1327M | het unknown | 0.464 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
0.5 | COL4A4-P1004L | het unknown | 0.528 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
0.5 | COL4A4-P482S | homozygous | 0.493 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
0.5 | COL6A3-A3012P | het unknown | 0.843 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
0.5 | COL6A3-M2988V | het unknown | 0.042 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
0.5 | COL6A3-A2960Del | het unknown | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview | |
0.5 | COL6A3-M2927T | het unknown | 0.674 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
0.5 | NDUFA10-A2G | het unknown | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.97 (probably damaging) | |
0.5 | FARP2-R17H | het unknown | 0.016 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: 1.0 (probably damaging) |
0.5 | GPR35-T108M | het unknown | 0.162 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: 0.112 (benign) |
0.5 | GPR35-T253M | het unknown | 0.042 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.471 (possibly damaging) |
0.5 | GPR35-S294R | het unknown | 0.465 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
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 | SPEG-R966Q | het unknown | 0.016 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown |
0.5 | SPEG-P2189L | het unknown | 0.244 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
0.5 | SPEG-R2790G | het unknown | 0.347 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
0.5 | SPEG-H3079R | het unknown | 0.410 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
0.5 | PDE11A-S921SS | homozygous | Unknown | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: Unknown | |
0.5 | PDE11A-Y727C | het unknown | 0.023 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 1.0 (probably damaging) |
0.5 | PDE11A-R184Q | homozygous | 0.978 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
0.5 | LRP2-I4210L | homozygous | 0.462 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.993 (probably damaging) |
0.5 | LRP2-K4094E | homozygous | 0.744 | Unknown pharmacogenetic | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: Unknown |
0.5 | LRP2-A2872T | het unknown | 0.327 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: Unknown |
0.5 | LRP2-N83S | het unknown | 0.306 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: 0.001 (benign) |
0.5 | COL3A1-H1353Q | homozygous | 0.990 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
0.5 | MSTN-K153R | het unknown | 0.069 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: 0.026 (benign), Testable gene in GeneTests with associated GeneReview |
0.5 | ABCA12-S777T | homozygous | 1.000 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
0.5 | NBEAL1-Q2292E | het unknown | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: 0.708 (possibly damaging) | |
0.5 | NBEAL1-I2330V | homozygous | 0.817 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
0.5 | NBEAL1-T2492A | het unknown | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.889 (probably damaging) | |
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 | TTLL3-M502R | homozygous | 0.468 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
0.5 | TTLL3-R561* | het unknown | 0.016 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Nonsense mutation |
0.5 | XPC-Q939K | homozygous | 0.683 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
0.5 | XPC-A499V | homozygous | 0.188 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
0.5 | XPC-R492H | het unknown | 0.026 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
0.5 | CEP63-Q185H | het unknown | 0.008 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.999 (probably damaging) |
0.5 | CASR-A986S | het unknown | 0.070 | Unknown benign | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.003 (benign), Testable gene in GeneTests |
0.5 | CASR-E1011Q | homozygous | 0.916 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests |
0.5 | PLSCR1-H262Y | het unknown | 0.046 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.997 (probably damaging) |
0.5 | IFT80-S357F | het unknown | 0.008 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests |
0.5 | IDUA-H33Q | homozygous | 0.750 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: 0.008 (benign), Testable gene in GeneTests with associated GeneReview |
0.5 | MCCC1-H464P | homozygous | 0.408 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests |
0.5 | DRD3-G9S | homozygous | 0.482 | Unknown pharmacogenetic | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: Unknown |
0.5 | SLC9A10-V1058A | het unknown | 0.075 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: 0.021 (benign) |
0.5 | SLC9A10-M844V | het unknown | 0.023 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.999 (probably damaging) |
0.5 | SLC9A10-G826S | het unknown | 0.288 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: 0.023 (benign) |
0.5 | SLC9A10-S768I | het unknown | 0.322 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: 0.735 (possibly damaging) |
0.5 | SLC9A10-Q732K | homozygous | 0.789 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: 0.99 (probably damaging) |
0.5 | SLC9A10-T705I | homozygous | 0.790 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: 0.005 (benign) |
0.5 | SLC9A10-T424A | het unknown | 0.306 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: 0.239 (possibly damaging) |
0.5 | SLC9A10-I364V | het unknown | 0.624 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
0.5 | SLC9A10-I348M | het unknown | 0.626 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
0.5 | SLC9A10-I158V | het unknown | 0.303 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: 0.003 (benign) |
0.5 | ZNF860-E348D | het unknown | 0.481 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
0.5 | ZNF860-F351L | het unknown | 0.457 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
0.5 | ZNF860-T358A | het unknown | 0.463 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
0.5 | ZNF860-H464R | het unknown | 0.202 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
0.5 | ZNF860-R609L | het unknown | 0.433 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
0.5 | ZNF860-R627C | het unknown | 0.005 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown |
0.5 | EOMES-Q6E | het unknown | 0.016 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.929 (probably damaging) |
0.5 | CNOT10-T348S | het unknown | 0.036 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.478 (possibly damaging) |
0.5 | SCN5A-H558R | het unknown | 0.215 | Unknown pharmacogenetic | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
0.5 | NR_015394-G45W | het unknown | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: Unknown | |
0.5 | NR_015394-F74S | het unknown | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: Unknown | |
0.5 | NR_015394-T113Shift | het unknown | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Frameshift | |
0.5 | GBE1-I334V | homozygous | 0.979 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
0.5 | DNASE1L3-R206C | het unknown | 0.039 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 1.0 (probably damaging) |
0.5 | EXD3-R653C | het unknown | 0.032 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.953 (probably damaging) |
0.5 | EXD3-C545Y | het unknown | 0.570 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
0.5 | EXD3-E322D | homozygous | 0.913 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
0.5 | EXD3-R220Q | homozygous | 0.937 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
0.5 | EXD3-A160T | homozygous | 0.868 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
0.5 | STK4-P416L | het unknown | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown | |
0.5 | GFER-F166L | het unknown | 0.035 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests |
0.5 | BCAT2-T186R | het unknown | 0.066 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.548 (possibly damaging), Testable gene in GeneTests |
0.5 | PKD1-A4059V | het unknown | 0.048 | Unknown benign | Insufficiently evaluated | Prioritization score: 4 Polyphen 2: 0.779 (possibly damaging), Testable gene in GeneTests with associated GeneReview |
0.5 | PKD1-I4045V | het unknown | 0.250 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 3 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: 3 Polyphen 2: 0.001 (benign), Testable gene in GeneTests with associated GeneReview |
0.5 | PKD1-R739Q | homozygous | 1.000 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.001 (benign), Testable gene in GeneTests with associated GeneReview |
0.5 | OR2C1-G16S | het unknown | 0.245 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
0.5 | OR2C1-C149W | homozygous | 0.998 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
0.5 | OR2C1-R229H | het unknown | 0.244 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
0.5 | OR2C1-F273Shift | het unknown | 0.016 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Frameshift |
0.5 | DHDH-S66N | het unknown | 0.545 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
0.5 | DHDH-A173Shift | het unknown | 0.009 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Frameshift |
0.5 | DHDH-V247A | het unknown | 0.473 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
0.5 | FANCI-P55L | het unknown | 0.022 | Unknown benign | Insufficiently evaluated | Prioritization score: 4 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
0.5 | CHRNA3-R37H | het unknown | 0.032 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown |
0.5 | CHRNA3-LL22Del | het unknown | Unknown | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: Unknown | |
0.5 | CHRNA3-LL22Del | het unknown | Unknown | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: Unknown | |
0.5 | TM6SF1-P59S | het unknown | 0.054 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.998 (probably damaging) |
0.5 | ADAMTSL3-H146R | homozygous | 0.706 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: 0.04 (benign) |
0.5 | ADAMTSL3-L290V | homozygous | 0.833 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
0.5 | ADAMTSL3-V661L | homozygous | 0.711 | Unknown pharmacogenetic | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
0.5 | ADAMTSL3-L869F | het unknown | 0.272 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: 0.148 (benign) |
0.5 | ADAMTSL3-T1660I | het unknown | 0.106 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: 0.001 (benign) |
0.5 | AKAP13-G191R | het unknown | 0.008 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.981 (probably damaging) |
0.5 | AKAP13-M452T | het unknown | 0.559 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: 0.038 (benign) |
0.5 | AKAP13-W494R | het unknown | 0.581 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
0.5 | AKAP13-R574C | het unknown | 0.568 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: 0.001 (benign) |
0.5 | AKAP13-G624V | het unknown | 0.124 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: 0.924 (probably damaging) |
0.5 | AKAP13-V845A | het unknown | 0.566 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
0.5 | AKAP13-V897M | het unknown | 0.565 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: 0.264 (possibly damaging) |
0.5 | AKAP13-P1062A | het unknown | 0.610 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: 0.309 (possibly damaging) |
0.5 | AKAP13-D1086N | het unknown | 0.565 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
0.5 | AKAP13-M1216T | het unknown | 0.564 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
0.5 | AKAP13-G2461S | het unknown | 0.133 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
0.5 | SLC28A1-L140LV | het unknown | Unknown | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: Unknown | |
0.5 | SLC28A1-D521N | homozygous | 0.226 | Unknown pharmacogenetic | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
0.5 | AK311524-V28A | homozygous | 0.903 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
0.5 | AK311524-W181Shift | het unknown | 0.023 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Frameshift |
0.5 | ABAT-Q56R | homozygous | 0.485 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests |
0.5 | CES1-A270S | het unknown | 0.056 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
0.5 | CES1-D204E | het unknown | 0.027 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown |
0.5 | CES1-S76N | het unknown | 0.032 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown |
0.5 | ERCC2-K751Q | het unknown | 0.218 | Unknown pharmacogenetic | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
0.5 | BCKDHA-T151M | het unknown | 0.008 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.034 (benign), Testable gene in GeneTests with associated GeneReview |
0.5 | PRX-G1132R | homozygous | 0.978 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
0.5 | PRX-P1083R | het unknown | 0.082 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: 0.793 (possibly damaging), Testable gene in GeneTests with associated GeneReview |
0.5 | PRX-I921M | het unknown | 0.261 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
0.5 | PRX-V882A | het unknown | 0.493 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: 0.014 (benign), Testable gene in GeneTests with associated GeneReview |
0.5 | RBL2-Y210C | het unknown | 0.085 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: 0.125 (benign) |
0.5 | RBL2-E575Q | het unknown | 0.016 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.993 (probably damaging) |
0.5 | SIX5-V693M | het unknown | 0.261 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.086 (benign), Testable gene in GeneTests with associated GeneReview |
0.5 | SIX5-P635S | het unknown | 0.533 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 4 Polyphen 2: 0.891 (probably damaging), Testable gene in GeneTests with associated GeneReview |
0.5 | SIX5-L556V | homozygous | 0.833 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
0.5 | PNMAL2-A599S | het unknown | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown | |
0.5 | PNMAL2-G163S | het unknown | 0.081 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: 0.929 (probably damaging) |
0.5 | PNMAL2-G163S | het unknown | 0.081 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: 0.929 (probably damaging) |
0.5 | ABCC6-M848V | homozygous | 0.954 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
0.5 | ABCC6-H632Q | het unknown | 0.342 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
0.5 | ABCC6-V614A | het unknown | 0.354 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
0.5 | UQCRC2-R183Q | het unknown | 0.033 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.697 (possibly damaging) |
0.5 | SALL1-V1275I | homozygous | 0.983 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
0.5 | CD19-L174V | homozygous | 0.876 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
0.5 | CD19-R514H | het unknown | 0.035 | Unknown benign | Insufficiently evaluated | Prioritization score: 5 Polyphen 2: 0.944 (probably damaging), Testable gene in GeneTests with associated GeneReview |
0.5 | HEXA-I436V | homozygous | 0.748 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
0.5 | NR2E3-T318Shift | homozygous | 1.000 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Frameshift, Testable gene in GeneTests |
0.5 | SIX6-H141N | homozygous | 0.314 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.008 (benign), Testable gene in GeneTests with associated GeneReview |
0.5 | SYNE2-I574T | het unknown | 0.118 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: 0.294 (possibly damaging), Testable gene in GeneTests |
0.5 | SYNE2-M1969T | homozygous | 0.637 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.991 (probably damaging), Testable gene in GeneTests |
0.5 | SYNE2-A2284V | homozygous | 0.637 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: 0.289 (possibly damaging), Testable gene in GeneTests |
0.5 | SYNE2-S2359N | homozygous | 0.676 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: 0.697 (possibly damaging), Testable gene in GeneTests |
0.5 | SYNE2-A2395T | homozygous | 0.835 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: Unknown, Testable gene in GeneTests |
0.5 | SYNE2-S2802G | homozygous | 0.864 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: 0.012 (benign), Testable gene in GeneTests |
0.5 | SYNE2-I2942V | homozygous | 0.622 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: Unknown, Testable gene in GeneTests |
0.5 | SYNE2-D3253H | homozygous | 0.684 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.933 (probably damaging), Testable gene in GeneTests |
0.5 | ZFYVE26-R2411H | het unknown | Unknown | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests | |
0.5 | ZFYVE26-N1891S | homozygous | 0.900 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests |
0.5 | ZFYVE26-C1457Y | het unknown | 0.136 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.005 (benign), Testable gene in GeneTests |
0.5 | ZFYVE26-T898S | het unknown | 0.046 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: 0.293 (possibly damaging), Testable gene in GeneTests |
0.5 | PANK2-L111Q | het unknown | 0.009 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: 0.26 (possibly damaging), Testable gene in GeneTests with associated GeneReview |
0.5 | WDHD1-P638A | het unknown | 0.039 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.999 (probably damaging) |
0.5 | TXNDC16-E486K | homozygous | 0.262 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: 0.011 (benign) |
0.5 | TXNDC16-A180G | het unknown | 0.039 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.991 (probably damaging) |
0.5 | PSMB5-R24C | het unknown | 0.035 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.982 (probably damaging) |
0.5 | LBP-D283G | het unknown | 0.008 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: 0.997 (probably damaging) |
0.5 | KIAA1755-R1045W | het unknown | 0.333 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: 0.986 (probably damaging) |
0.5 | KIAA1755-E940K | het unknown | 0.341 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
0.5 | KIAA1755-R510* | het unknown | 0.008 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Nonsense mutation |
0.5 | PCK2-Q121P | homozygous | 1.000 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests |
0.5 | LRRC16B-G1161V | het unknown | 0.008 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.975 (probably damaging) |
0.5 | SIRPB1-A363P | homozygous | 0.839 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
0.5 | SIRPB1-I229M | homozygous | 0.848 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
0.5 | SIRPB1-R53H | het unknown | 0.033 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown |
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 | AK094748-S209Shift | het unknown | 0.019 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Frameshift |
0.5 | DUOX2-S1067L | homozygous | 0.662 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: Unknown, Testable gene in GeneTests |
0.5 | DUOX2-P138L | homozygous | 0.926 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests |
0.5 | FPR1-E346A | homozygous | 0.800 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
0.5 | FPR1-N192K | het unknown | 0.516 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
0.5 | FPR1-V101L | het unknown | 0.336 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
0.5 | FPR1-I11T | homozygous | 0.831 | Unknown pharmacogenetic | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
0.5 | FBN1-C472Y | homozygous | 1.000 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
0.5 | STRC-Q84R | homozygous | 1.000 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
0.5 | LTK-D535N | het unknown | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown | |
0.5 | LTK-P227L | het unknown | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: Unknown | |
0.5 | LTK-R42Q | het unknown | 0.160 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
0.5 | DSC2-R798Q | het unknown | 0.008 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: 0.433 (possibly damaging), Testable gene in GeneTests with associated GeneReview |
0.5 | DSC2-I776V | het unknown | 0.223 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
0.5 | TSHR-E727D | homozygous | 0.895 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests |
0.5 | GALC-T641A | homozygous | 0.892 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
0.5 | GALC-I562T | homozygous | 0.446 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.167 (benign), Testable gene in GeneTests with associated GeneReview |
0.5 | DEFB126-P106Shift | het unknown | 0.023 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Frameshift |
0.5 | SPATA7-V74M | homozygous | 0.412 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
0.5 | FCGBP-A5017V | het unknown | 0.371 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: 0.003 (benign) |
0.5 | FCGBP-D4906H | het unknown | 0.390 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: 0.932 (probably damaging) |
0.5 | FCGBP-G4465S | het unknown | 0.014 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: 0.949 (probably damaging) |
0.5 | FCGBP-H3668R | homozygous | 0.575 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
0.5 | FCGBP-P742S | het unknown | Unknown | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: Unknown | |
0.5 | LCAT-S232T | het unknown | 0.014 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: 0.484 (possibly damaging), Testable gene in GeneTests |
0.5 | RNF43-L418M | homozygous | 0.410 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: 0.06 (benign) |
0.5 | RNF43-R343H | het unknown | 0.070 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.999 (probably damaging) |
0.5 | RNF43-P231L | het unknown | 0.075 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: 0.987 (probably damaging) |
0.5 | RNF43-I47V | het unknown | 0.359 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: 0.001 (benign) |
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 | BRIP1-S919P | homozygous | 0.652 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
0.5 | SCN4A-N1376D | het unknown | 0.604 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
0.5 | SCN4A-S524G | homozygous | 0.938 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
0.5 | COL1A1-T1075A | homozygous | 0.961 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
0.5 | DLX4-N44S | het unknown | 0.009 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown |
0.5 | NDUFS7-P23L | homozygous | 0.437 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.001 (benign), Testable gene in GeneTests |
0.5 | HIGD1B-S86N | het unknown | 0.237 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: 0.013 (benign) |
0.5 | HIGD1B-D87N | het unknown | 0.017 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: 0.97 (probably damaging) |
0.5 | GRIN3B-T157M | het unknown | 0.183 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: 0.938 (probably damaging) |
0.5 | GRIN3B-R404W | het unknown | 0.360 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: 0.976 (probably damaging) |
0.5 | GRIN3B-W414R | het unknown | 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 | het unknown | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: Unknown | |
0.5 | GRIN3B-Q1006E | het unknown | 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 | B4GALNT2-R523W | het unknown | 0.008 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.99 (probably damaging) |
0.5 | NPEPPS-G322D | het unknown | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: 0.999 (probably damaging) | |
0.5 | CTDP1-S61A | het unknown | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview | |
0.5 | CTDP1-T340M | het unknown | 0.085 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: 0.006 (benign), Testable gene in GeneTests with associated GeneReview |
0.5 | APOH-S107N | het unknown | 0.035 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown |
0.5 | FECH-R102Q | het unknown | 0.056 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests |
0.5 | MYOM1-D1408N | het unknown | 0.044 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown |
0.5 | MYOM1-S181P | het unknown | 0.449 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
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 | TCEB3B-G636S | het unknown | Unknown | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: Unknown | |
0.5 | TCEB3B-A446T | het unknown | 0.435 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: 0.778 (possibly damaging) |
0.5 | TCEB3B-A403S | het unknown | 0.604 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
0.5 | TCEB3B-C254F | het unknown | 0.522 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
0.5 | TCEB3B-R179P | het unknown | 0.558 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
0.5 | TCEB3B-N115T | het unknown | 0.008 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.955 (probably damaging) |
0.5 | ALPK2-I2157V | homozygous | 0.919 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
0.5 | ALPK2-R1884C | het unknown | 0.016 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.699 (possibly damaging) |
0.5 | ALPK2-H1767Y | het unknown | 0.058 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: 0.008 (benign) |
0.5 | ALPK2-Q1579R | het unknown | 0.065 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: 0.183 (benign) |
0.5 | ALPK2-A1551S | het unknown | 0.335 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: 0.092 (benign) |
0.5 | ALPK2-P1449S | het unknown | 0.332 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: 0.966 (probably damaging) |
0.5 | ALPK2-F1389Del | het unknown | 0.094 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
0.5 | ALPK2-H1174P | het unknown | 0.641 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: 0.998 (probably damaging) |
0.5 | ALPK2-L1057V | het unknown | 0.641 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: 0.293 (possibly damaging) |
0.5 | ALPK2-EDTST1006Del | het unknown | 0.453 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
0.5 | ALPK2-N916K | het unknown | 0.397 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: 0.992 (probably damaging) |
0.5 | ALPK2-T891I | homozygous | 0.762 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
0.5 | ALPK2-T875P | het unknown | 0.008 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: 0.007 (benign) |
0.5 | ALPK2-K829N | het unknown | 0.393 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: 0.923 (probably damaging) |
0.5 | ALPK2-R825T | het unknown | 0.393 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
0.5 | ALPK2-G810S | het unknown | 0.376 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: 0.486 (possibly damaging) |
0.5 | ALPK2-H719Q | het unknown | 0.398 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: 0.215 (possibly damaging) |
0.5 | ALPK2-R136S | homozygous | 0.465 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
0.5 | ALPK2-K2T | homozygous | 0.926 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
0.5 | TNFRSF11A-H141Y | het unknown | 0.027 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: 0.909 (probably damaging), Testable gene in GeneTests |
0.5 | TNFRSF11A-A192V | het unknown | 0.625 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: Unknown, Testable gene in GeneTests |
0.5 | 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 | DNAI2-A558T | homozygous | 0.674 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
0.5 | MIF4GD-Q126Shift | het unknown | 0.016 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Frameshift |
0.5 | 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 | 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 | CD300LG-A231Shift | het unknown | 0.017 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Frameshift |
0.5 | SCAMP4-P199L | het unknown | 0.008 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.958 (probably damaging) |
0.5 | PRODH2-P91R | het unknown | 0.045 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: 0.243 (possibly damaging), Testable gene in GeneTests |
0.5 | CTNS-T260I | homozygous | 0.825 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
0.5 | 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 | ENO3-N71S | het unknown | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests | |
0.5 | ENO3-V85A | het unknown | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests | |
0.5 | JAK3-K482W | het unknown | 0.008 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests |
0.5 | CYBA-V174A | het unknown | 0.417 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests |
0.5 | CYBA-Y72H | het unknown | 0.649 | Unknown pharmacogenetic | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests |
0.5 | ATP2C2-M165L | homozygous | 0.997 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
0.5 | ATP2C2-G411S | het unknown | 0.034 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown |
0.5 | ATP2C2-L604Q | het unknown | 0.047 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: Unknown |
0.5 | DHODH-K7Q | homozygous | 0.560 | Unknown pharmacogenetic | Insufficiently evaluated | Prioritization score: 0 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 | RYR1-K1393R | het unknown | Unknown | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview | |
0.5 | RYR1-E1894K | het unknown | Unknown | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview | |
0.5 | LRRC50-K393R | homozygous | 0.321 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.683 (possibly damaging), Testable gene in GeneTests with associated GeneReview |
0.5 | LRRC50-P502L | homozygous | 0.272 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.005 (benign), Testable gene in GeneTests with associated GeneReview |
0.5 | LRRC50-L633S | het unknown | 0.261 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
0.5 | LRRC50-L659P | het unknown | 0.352 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
0.5 | LRRC50-S675T | het unknown | 0.363 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.001 (benign), Testable gene in GeneTests with associated GeneReview |
0.5 | PLCG2-R268W | het unknown | 0.033 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.95 (probably damaging) |
0.5 | MFSD6L-L85I | het unknown | 0.041 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.914 (probably damaging) |
0.5 | COX10-R159Q | homozygous | 0.494 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests |
0.5 | TSPAN16-S233Shift | het unknown | 0.016 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Frameshift |
0.5 | TYK2-I684S | het unknown | 0.031 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: 1.0 (probably damaging), Testable gene in GeneTests |
0.5 | TYK2-V362F | het unknown | 0.268 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: 0.003 (benign), Testable gene in GeneTests |
0.5 | ADAMTS10-H1101Q | homozygous | 1.000 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
0.5 | ADAMTS10-T134S | homozygous | 0.910 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: 0.001 (benign), Testable gene in GeneTests with associated GeneReview |
0.5 | ZFR2-A577T | het unknown | 0.391 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: 0.005 (benign) |
0.5 | ZFR2-V210L | het unknown | 0.389 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: 0.55 (possibly damaging) |
0.5 | ZFR2-V183M | het unknown | 0.230 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: 0.001 (benign) |
0.5 | ZFR2-S164L | het unknown | 0.387 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: 0.011 (benign) |
0.5 | ZFR2-G58S | het unknown | 0.047 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.933 (probably damaging) |
0.5 | ZNF414-A357P | het unknown | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown | |
0.5 | ZNF414-P77S | het unknown | 0.238 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
0.5 | ZNF414-Q65R | het unknown | 0.194 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: 0.686 (possibly damaging) |
0.5 | KRT13-T298A | homozygous | 0.835 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: Unknown, Testable gene in GeneTests |
0.5 | KRT13-A187V | homozygous | 0.715 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: Unknown, Testable gene in GeneTests |
0.5 | KRT13-A146G | het unknown | 0.054 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests |
0.5 | MAN2B1-R337Q | homozygous | 0.237 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: 0.027 (benign), Testable gene in GeneTests with associated GeneReview |
0.5 | MAN2B1-T312I | homozygous | 0.324 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.045 (benign), Testable gene in GeneTests with associated GeneReview |
0.5 | MAN2B1-L278V | het unknown | 0.236 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
0.5 | RAI1-G90A | het unknown | 0.281 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
0.5 | RAI1-P165T | het unknown | 0.542 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 4 Polyphen 2: 0.999 (probably damaging), Testable gene in GeneTests with associated GeneReview |
0.5 | CYP4F2-V433M | homozygous | 0.216 | Recessive pharmacogenetic | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: 0.309 (possibly damaging) |
0.5 | CYP4F2-W12G | homozygous | 0.058 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: 0.001 (benign) |
0.5 | SPECC1-M293L | het unknown | Unknown | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: Unknown | |
0.5 | SPECC1-Q490Shift | het unknown | Unknown | Insufficiently evaluated | Prioritization score: 2 Frameshift | |
0.5 | SPECC1-L491* | het unknown | Unknown | Insufficiently evaluated | Prioritization score: 2 Nonsense mutation | |
0.5 | MYO19-N176S | het unknown | 0.063 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.999 (probably damaging) |
0.5 | CCDC55-K86T | het unknown | 0.027 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.932 (probably damaging) |
0.5 | VIPAR-DA481ES | het unknown | Unknown | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests | |
0.5 | VIPAR-D471E | het unknown | Unknown | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests | |
0.5 | KCNH3-E434Shift | het unknown | Unknown | Insufficiently evaluated | Prioritization score: 2 Frameshift | |
0.5 | KCNH3-A435Shift | het unknown | Unknown | Insufficiently evaluated | Prioritization score: 2 Frameshift | |
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-A545T | het unknown | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, 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 | ANKK1-G318R | homozygous | 0.165 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: 0.006 (benign) |
0.5 | ANKK1-H367Q | het unknown | 0.009 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.999 (probably damaging) |
0.5 | ANKK1-G442R | homozygous | 0.541 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
0.5 | ANKK1-H490R | homozygous | 0.210 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: 0.001 (benign) |
0.5 | HYLS1-C31R | homozygous | 0.322 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.994 (probably damaging), Testable gene in GeneTests |
0.5 | TCF20-M405V | homozygous | 0.102 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.963 (probably damaging) |
0.5 | ATM-D1853N | het unknown | 0.066 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
0.5 | ATM-N1983S | homozygous | 0.991 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
0.5 | DMD-R2937Q | homozygous | 0.899 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
0.5 | DMD-R1745H | het unknown | 0.387 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: 0.999 (probably damaging), Testable gene in GeneTests with associated GeneReview |
0.5 | DMD-D882G | het unknown | 0.727 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
0.5 | TYR-S192Y | het unknown | 0.217 | Unknown benign | Insufficiently evaluated | Prioritization score: 4 Polyphen 2: 0.919 (probably damaging), Testable gene in GeneTests with associated GeneReview |
0.5 | ARSE-G424S | homozygous | 0.543 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: 0.003 (benign), Testable gene in GeneTests with associated GeneReview |
0.5 | PLCXD1-G305V | het unknown | 0.022 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.941 (probably damaging) |
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 | SNX19-L878R | homozygous | 0.808 | Unknown pharmacogenetic | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
0.5 | SNX19-N753S | homozygous | 0.617 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
0.5 | SNX19-L618F | homozygous | 0.994 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
0.5 | SNX19-V361L | homozygous | 0.671 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
0.5 | SLCO1B1-N130D | het unknown | 0.663 | Unknown pharmacogenetic | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
0.5 | SLCO1B1-P155T | het unknown | 0.071 | Unknown pharmacogenetic | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
0.5 | LRRK2-R50H | homozygous | 0.927 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 3 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: 3 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
0.5 | COL2A1-T9S | homozygous | 0.598 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
0.5 | 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 | het unknown | 0.389 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 4 Polyphen 2: 0.999 (probably damaging), Testable gene in GeneTests with associated GeneReview |
0.5 | SLCO1B3-S112A | homozygous | 0.646 | Unknown pharmacogenetic | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
0.5 | SLCO1B3-M233I | homozygous | 0.659 | Unknown pharmacogenetic | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: 0.131 (benign) |
0.5 | GAB4-W206C | het unknown | 0.016 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.998 (probably damaging) |
0.5 | GAB4-G163* | het unknown | 0.279 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 1 Nonsense mutation |
0.5 | WNK1-T1056P | homozygous | 0.838 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
0.5 | WNK1-C1506S | homozygous | 1.000 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
0.5 | WNK1-M1808I | het unknown | 0.431 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
0.5 | VWF-T1381A | homozygous | 0.754 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
0.5 | VWF-Q852R | homozygous | 0.904 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
0.5 | VWF-T789A | het unknown | 0.355 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: 0.004 (benign), Testable gene in GeneTests with associated GeneReview |
0.5 | VWF-H484R | het unknown | 0.498 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: 0.83 (possibly damaging), Testable gene in GeneTests with associated GeneReview |
0.5 | PRODH-R521Q | homozygous | 0.887 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests |
0.5 | HEBP1-E183D | het unknown | 0.015 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.97 (probably damaging) |
0.5 | MYO7A-L16S | homozygous | 0.550 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
0.5 | MYO7A-S1666C | homozygous | 0.610 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
0.5 | MYO7A-L1954I | het unknown | 0.552 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
0.5 | TPCN2-V219I | het unknown | 0.038 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.782 (possibly damaging) |
0.5 | TPCN2-M484L | het unknown | 0.071 | Unknown benign | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: 0.333 (possibly damaging) |
0.5 | TPCN2-L564P | homozygous | 0.719 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
0.5 | TPCN2-G734E | het unknown | 0.167 | Unknown benign | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
0.5 | MRGPRX1-F273L | het unknown | 0.031 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.941 (probably damaging) |
0.5 | MRGPRX1-A46T | het unknown | 0.244 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: 0.033 (benign) |
0.5 | SLC6A5-G102S | homozygous | 0.420 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
0.5 | SLC6A5-F124S | homozygous | 0.803 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
0.5 | SLC6A5-A162G | homozygous | 0.997 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
0.5 | PEX16-V116I | homozygous | 1.000 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
0.5 | RAB40A-H45L | het unknown | 0.022 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.907 (probably damaging) |
0.5 | H2BFM-Q73* | het unknown | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Nonsense mutation | |
0.5 | KCNE1L-P33S | het unknown | 0.022 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.979 (probably damaging) |
0.5 | DOCK1-S1756L | het unknown | 0.008 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.981 (probably damaging) |
0.5 | DOCK1-A1857T | homozygous | 0.855 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
0.5 | AK160367-D257E | homozygous | 0.676 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
0.5 | AK160367-M356V | homozygous | 0.820 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
0.5 | AK160367-V377Shift | het unknown | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Frameshift | |
0.5 | OPN1LW-T65I | het unknown | Unknown | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview | |
0.5 | OPN1LW-L153M | het unknown | 0.182 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
0.5 | OPN1LW-S180A | het unknown | 0.229 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: 0.001 (benign), Testable gene in GeneTests with associated GeneReview |
0.5 | OPN1LW-Y309F | het unknown | Unknown | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview | |
0.5 | TRPM5-G900S | het unknown | 0.048 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: Unknown |
0.5 | TRPM5-R578Q | het unknown | 0.439 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: 0.001 (benign) |
0.5 | TRPM5-V335L | het unknown | 0.031 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: 0.98 (probably damaging) |
0.5 | TRPM5-V254A | homozygous | 0.794 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
0.5 | TRPM5-N235S | het unknown | 0.542 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
0.5 | ATP7A-V767L | het unknown | 0.332 | Unknown pharmacogenetic | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
0.5 | ATP7A-E1350K | homozygous | 1.000 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
0.5 | MS4A14-I56Shift | het unknown | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Frameshift | |
0.5 | MS4A14-N177Y | het unknown | 0.543 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: 0.981 (probably damaging) |
0.5 | MS4A14-G584R | het unknown | 0.513 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: 0.003 (benign) |
0.5 | NR_027444-W159Shift | het unknown | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Frameshift | |
0.5 | CCDC87-L738R | het unknown | 0.031 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: 0.996 (probably damaging) |
0.5 | AIP-Q228K | homozygous | 0.732 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests |
0.5 | AIP-Q307R | homozygous | 1.000 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests |
0.5 | RPGR-VEGE1025Del | het unknown | 0.043 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests |
0.5 | PCNXL3-Q258R | homozygous | 1.000 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
0.5 | PCNXL3-S458C | het unknown | 0.248 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: 0.065 (benign) |
0.5 | PCNXL3-R1917Q | het unknown | 0.031 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.932 (probably damaging) |
0.5 | SLC38A5-M451T | het unknown | 0.071 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.998 (probably damaging) |
0.5 | VPS37C-L198S | homozygous | 0.849 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
0.5 | VPS37C-T8N | het unknown | 0.039 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.985 (probably damaging) |
0.5 | P2RY4-W348* | het unknown | 0.022 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Nonsense mutation |
0.5 | P2RY4-S234A | het unknown | 0.237 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
0.5 | P2RY4-N178T | het unknown | 0.438 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
0.5 | ROM1-G118A | homozygous | 0.931 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.008 (benign), Testable gene in GeneTests |
0.5 | MEN1-T546A | homozygous | 0.791 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
0.5 | TIRAP-S180L | het unknown | 0.073 | Complex/Other pharmacogenetic | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
0.5 | SUCLA2-S199T | homozygous | 0.722 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
0.5 | LARP4-F351L | het unknown | 0.007 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: 0.99 (probably damaging) |
0.5 | HPD-T33A | homozygous | 0.884 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests |
0.5 | COL4A1-T555P | homozygous | 0.994 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
0.5 | MMAB-M239K | homozygous | 0.469 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
0.5 | MMAB-R19Q | het unknown | 0.283 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
0.5 | SGCG-R116H | het unknown | 0.056 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.995 (probably damaging), Testable gene in GeneTests |
0.5 | SGCG-N287S | homozygous | 0.843 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests |
0.5 | NR_028064-G139Shift | het unknown | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Frameshift | |
0.5 | NR_028064-H49Q | homozygous | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: Unknown | |
0.5 | NR_028064-H41Shift | het unknown | Unknown | Insufficiently evaluated | Prioritization score: 2 Frameshift | |
0.5 | HNF1A-I27L | het unknown | 0.311 | Unknown pharmacogenetic | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests |
0.5 | HNF1A-A98V | het unknown | 0.028 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests |
0.5 | HNF1A-S487N | het unknown | 0.301 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests |
0.5 | HNF1A-S574G | homozygous | 0.976 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests |
0.5 | CBR3-V244M | homozygous | 0.398 | Unknown pharmacogenetic | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: 0.014 (benign) |
0.5 | TPTE-L470P | homozygous | 0.997 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
0.5 | TPTE-R229* | het unknown | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Nonsense mutation | |
0.5 | NRIP1-R448G | het unknown | 0.029 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: 0.999 (probably damaging) |
0.5 | UGGT2-N1268Y | het unknown | 0.008 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 1.0 (probably damaging) |
0.5 | UGGT2-S328A | homozygous | 0.852 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
0.5 | SLC24A6-L561Shift | het unknown | Unknown | Insufficiently evaluated | Prioritization score: 2 Frameshift | |
0.5 | SLC24A6-C559Y | het unknown | 0.025 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.942 (probably damaging) |
0.5 | MVK-S52N | het unknown | 0.100 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests |
0.5 | ATXN2-L107V | homozygous | 0.311 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
0.5 | ITGA7-R655H | het unknown | 0.570 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: Unknown, Testable gene in GeneTests |
0.5 | ITGA7-R279H | het unknown | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests | |
0.5 | KRT6B-I365V | homozygous | 1.000 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.003 (benign), Testable gene in GeneTests with associated GeneReview |
0.5 | PCK1-V184L | homozygous | 0.856 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests |
0.5 | ITGB2-Q354H | homozygous | 1.000 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.543 (possibly damaging), Testable gene in GeneTests |
0.5 | COL6A2-A68V | het unknown | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview | |
0.5 | TEP1-I2486M | het unknown | 0.373 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
0.5 | TEP1-V2214I | het unknown | 0.326 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
0.5 | TEP1-S1195P | homozygous | 0.703 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
0.5 | TEP1-R1055C | homozygous | 0.631 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
0.5 | TTC3-M840T | homozygous | 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 | homozygous | 0.791 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
0.5 | KRT83-H493Y | homozygous | 0.791 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests |
0.5 | KRT83-I279M | het unknown | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests | |
0.5 | SACS-V3369A | het unknown | 0.244 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.769 (possibly damaging), Testable gene in GeneTests with associated GeneReview |
0.5 | SACS-V995F | het unknown | 0.008 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.009 (benign), Testable gene in GeneTests with associated GeneReview |
0.5 | COL18A1-PGP1362Del | het unknown | Unknown | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests | |
0.5 | COL18A1-PGP1362Del | het unknown | Unknown | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests | |
0.5 | COL18A1-A1533T | het unknown | Unknown | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests | |
0.5 | DIP2B-R484W | het unknown | 0.031 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.986 (probably damaging) |
0.5 | SLC19A1-H27R | homozygous | 0.447 | Unknown pharmacogenetic | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: 0.002 (benign) |
0.375 | CFH-H402Y | het unknown | 0.818 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
0.375 | CFH-N638S | het unknown | Unknown | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview | |
0.375 | FANCA-G501S | het unknown | 0.654 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
0.375 | FANCA-V6D | het unknown | Unknown | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview | |
0.375 | ROR2-P799S | het unknown | Unknown | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview | |
0.375 | ROR2-T245A | het unknown | 0.619 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
0.375 | GSTP1-I105V | het unknown | 0.338 | Recessive pharmacogenetic | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
0.375 | GSTP1-A114V | het unknown | 0.045 | Recessive pharmacogenetic | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: 0.018 (benign) |
0.375 | STXBP2-P334L | het unknown | Unknown | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview | |
0.375 | STXBP2-I526V | het unknown | 0.725 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
0.375 | GLI2-S1115F | het unknown | Unknown | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview | |
0.375 | GLI2-A1156S | het unknown | 0.536 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
0.375 | GLI2-D1306N | het unknown | 0.595 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
0.375 | GAA-H199R | het unknown | 0.574 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
0.375 | GAA-R223H | het unknown | 0.606 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
0.375 | GAA-R702H | het unknown | Unknown | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview | |
0.375 | GAA-V780I | het unknown | 0.720 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
0.375 | FREM2-S745P | homozygous | 0.994 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: Unknown, Testable gene in GeneTests |
0.375 | FREM2-F1070S | het unknown | 0.527 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests |
0.375 | FREM2-T1624I | het unknown | Unknown | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests | |
0.375 | FREM2-R1668H | het unknown | 0.123 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: 0.762 (possibly damaging), Testable gene in GeneTests |
0.25 | CASP10-L522I | het unknown | 0.309 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
0.25 | NEUROD1-T45A | het unknown | 0.754 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests |
0.25 | KCNE1-S38G | het unknown | 0.710 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: 0.003 (benign), Testable gene in GeneTests with associated GeneReview |
0.25 | TRIB3-Q84R | het unknown | 0.188 | Unknown pharmacogenetic | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
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 | FMO2-S195L | het unknown | 0.465 | Unknown pharmacogenetic | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
0.25 | CPO-M85I | het unknown | 0.426 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.196 (benign), Testable gene in GeneTests |
0.25 | CPO-S134R | het unknown | 0.476 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests |
0.25 | MKKS-G532V | het unknown | 0.218 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: 0.067 (benign), Testable gene in GeneTests with associated GeneReview |
0.25 | MKKS-R517C | het unknown | 0.215 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: 0.001 (benign), Testable gene in GeneTests with associated GeneReview |
0.25 | CD226-S307G | het unknown | 0.423 | Unknown pharmacogenetic | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
0.25 | TNFRSF1B-M196R | het unknown | 0.206 | Unknown pharmacogenetic | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: 0.986 (probably damaging) |
0.25 | HMCN1-I2418T | het unknown | 0.553 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: 0.468 (possibly damaging), Testable gene in GeneTests |
0.25 | HMCN1-E2893G | het unknown | 0.617 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.91 (probably damaging), Testable gene in GeneTests |
0.25 | RRBP1-S766L | homozygous | 0.360 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
0.25 | RRBP1-L610H | homozygous | 0.998 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
0.25 | RRBP1-Q551* | het unknown | Unknown | Insufficiently evaluated | Prioritization score: 2 Nonsense mutation | |
0.25 | XIAP-Q423P | het unknown | 0.277 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: 0.053 (benign), Testable gene in GeneTests with associated GeneReview |
0.25 | KCNQ2-N780T | het unknown | 0.509 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
0.25 | CTLA4-T17A | het unknown | 0.463 | Unknown pharmacogenetic | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: 0.001 (benign) |
0.25 | KCNQ4-H455Q | het unknown | 0.156 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: 0.191 (benign), Testable gene in GeneTests with associated GeneReview |
0.25 | LHX4-N328S | het unknown | 0.389 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests |
0.25 | CASP8-K14R | het unknown | 0.640 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests |
0.25 | ALS2-V368M | het unknown | 0.869 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
0.25 | SLC16A2-S107P | het unknown | 0.444 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
0.25 | DNAH14-T43S | het unknown | 0.048 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: Unknown |
0.25 | DNAH14-F405L | het unknown | 0.030 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: Unknown |
0.25 | DNAH14-L828V | homozygous | 0.710 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
0.25 | DNAH14-K1010R | homozygous | 0.617 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
0.25 | DNAH14-R1011Q | homozygous | 0.674 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
0.25 | DNAH14-N1099Y | het unknown | 0.677 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
0.25 | DNAH14-M1110I | homozygous | 0.663 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
0.25 | DNAH14-Y1392D | het unknown | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: 0.007 (benign) | |
0.25 | DNAH14-K1925Shift | het unknown | Unknown | Insufficiently evaluated | Prioritization score: 2 Frameshift | |
0.25 | DNAH14-N2435S | het unknown | 0.030 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: Unknown |
0.25 | DNAH14-D3393E | het unknown | 0.521 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
0.25 | DNAH14-K3474E | het unknown | 0.514 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
0.25 | DNAH14-Q3556R | het unknown | 0.106 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
0.25 | DNAH14-V3627A | het unknown | 0.514 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
0.25 | DNAH14-R3670K | het unknown | 0.517 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
0.25 | DNAH14-N3969K | homozygous | 0.346 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
0.25 | DNAH14-L4096P | homozygous | 0.544 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
0.25 | DNAH14-F4244C | homozygous | 0.513 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
0.25 | FERMT1-R526K | het unknown | 0.468 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests |
0.25 | ATRX-Q929E | het unknown | 0.565 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
0.25 | NOTCH3-A2223V | het unknown | 0.553 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
0.25 | ICAM1-V330M | het unknown | Unknown | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: Unknown | |
0.25 | ICAM1-K469E | het unknown | 0.297 | Unknown pharmacogenetic | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
0.25 | THAP7-A115P | het unknown | 0.863 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown |
0.25 | THAP7-A115P | het unknown | 0.863 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown |
0.25 | ABCG5-Q604E | het unknown | 0.191 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.73 (possibly damaging), Testable gene in GeneTests |
0.25 | ABCG8-Y54C | het unknown | 0.431 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.01 (benign), Testable gene in GeneTests |
0.25 | ABCG8-V632A | het unknown | 0.908 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests |
0.25 | SLC3A1-M618I | het unknown | 0.406 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.003 (benign), Testable gene in GeneTests |
0.25 | NPHS1-E117K | het unknown | 0.297 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: 0.997 (probably damaging), Testable gene in GeneTests |
0.25 | FSHR-S680N | het unknown | 0.605 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests |
0.25 | FSHR-A307T | het unknown | 0.486 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests |
0.25 | GON4L-T1545Shift | het unknown | Unknown | Insufficiently evaluated | Prioritization score: 2 Frameshift | |
0.25 | GON4L-M1418V | het unknown | 0.383 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
0.25 | GBA-K144R | het unknown | 0.619 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
0.25 | IL6R-D358A | het unknown | 0.266 | Unknown pharmacogenetic | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: 0.911 (probably damaging) |
0.25 | DMPK-L423V | het unknown | 0.121 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
0.25 | CASQ2-T66A | het unknown | 0.427 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
0.25 | PCNT-G704E | homozygous | 0.855 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: Unknown, Testable gene in GeneTests |
0.25 | PCNT-T879A | het unknown | 0.360 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: 0.707 (possibly damaging), Testable gene in GeneTests |
0.25 | PCNT-V1038A | homozygous | 0.847 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: Unknown, Testable gene in GeneTests |
0.25 | PCNT-I1639V | het unknown | 0.383 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: Unknown, Testable gene in GeneTests |
0.25 | PCNT-N1841S | het unknown | 0.221 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: Unknown, Testable gene in GeneTests |
0.25 | PCNT-L2097P | het unknown | 0.262 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: 0.003 (benign), Testable gene in GeneTests |
0.25 | PCNT-H2125P | het unknown | 0.310 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: Unknown, Testable gene in GeneTests |
0.25 | PCNT-M2188R | het unknown | 0.186 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: Unknown, Testable gene in GeneTests |
0.25 | PCNT-W2239R | het unknown | 0.210 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: 0.003 (benign), Testable gene in GeneTests |
0.25 | PCNT-H2247Y | het unknown | Unknown | Insufficiently evaluated | Prioritization score: 2 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-Q2361R | het unknown | 0.262 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: 0.005 (benign), Testable gene in GeneTests |
0.25 | PCNT-A2549T | het unknown | 0.237 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: 0.009 (benign), Testable gene in GeneTests |
0.25 | PCNT-Q2659H | het unknown | 0.572 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: 0.849 (possibly damaging), Testable gene in GeneTests |
0.25 | PCNT-Q2792R | homozygous | 0.732 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: 0.006 (benign), Testable gene in GeneTests |
0.25 | PTPN22-W620R | het unknown | 0.970 | Unknown pharmacogenetic | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
0.25 | ZNF224-M118V | het unknown | 0.793 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
0.25 | ZNF224-H162L | het unknown | 0.780 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: 0.262 (possibly damaging) |
0.25 | ZNF224-K640E | het unknown | 0.593 | Unknown pharmacogenetic | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
0.25 | COL6A1-R850H | het unknown | 0.264 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
0.25 | COL6A1-S890L | het unknown | 0.203 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
0.25 | OTOF-R82C | het unknown | 0.229 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: 0.006 (benign), Testable gene in GeneTests with associated GeneReview |
0.25 | ATP6V1B1-M1T | het unknown | 0.371 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: Unknown, Testable gene in GeneTests |
0.25 | ATP6V1B1-T30I | het unknown | 0.117 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests |
0.25 | MMP9-Q279R | het unknown | 0.477 | Unknown pharmacogenetic | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
0.25 | MMP9-R574P | homozygous | 0.813 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
0.25 | MMP9-R668Q | het unknown | 0.187 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
0.25 | SCO2-R20P | het unknown | 0.690 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests |
0.25 | MYO7B-G21S | het unknown | 0.461 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
0.25 | MYO7B-L1352Shift | het unknown | Unknown | Insufficiently evaluated | Prioritization score: 2 Frameshift | |
0.25 | CTH-S403I | het unknown | 0.175 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests |
0.25 | SHANK3-I245T | het unknown | 0.357 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
0.25 | EDARADD-M9I | het unknown | 0.726 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
0.25 | KAL1-V534I | het unknown | 0.543 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
0.25 | DL492456-R148H | het unknown | Unknown | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: Unknown | |
0.25 | DL492456-Y109C | het unknown | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: Unknown | |
0.25 | DL492456-W104* | het unknown | Unknown | Insufficiently evaluated | Prioritization score: 2 Nonsense mutation | |
0.25 | SIGLEC12-R528W | het unknown | 0.055 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: 0.9 (probably damaging) |
0.25 | SIGLEC12-Y494S | het unknown | 0.825 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
0.25 | SIGLEC12-T478M | het unknown | 0.591 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: 0.006 (benign) |
0.25 | SIGLEC12-H398Y | het unknown | 0.269 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: 0.069 (benign) |
0.25 | SIGLEC12-H217Q | het unknown | 0.816 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: 0.015 (benign) |
0.25 | SIGLEC12-A82V | het unknown | 0.522 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: 0.001 (benign) |
0.25 | SIGLEC12-A66Shift | het unknown | 0.867 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 1 Frameshift |
0.25 | SIGLEC12-P9Shift | het unknown | Unknown | Insufficiently evaluated | Prioritization score: 2 Frameshift | |
0.25 | UBQLN4-A503Shift | het unknown | Unknown | Insufficiently evaluated | Prioritization score: 2 Frameshift | |
0.25 | UBQLN4-I495M | het unknown | 0.416 | 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 | BC036909-I114M | homozygous | 0.798 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
0.25 | BC036909-G99Shift | 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 | GGCX-R325Q | het unknown | 0.454 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.003 (benign), Testable gene in GeneTests |
0.25 | SFTPB-D174A | het unknown | Unknown | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests | |
0.25 | SFTPB-T131I | het unknown | 0.570 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: Unknown, Testable gene in GeneTests |
0.25 | IL12RB1-G378R | het unknown | 0.329 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.001 (benign), Testable gene in GeneTests |
0.25 | IL12RB1-M365T | het unknown | 0.297 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests |
0.25 | IL12RB1-Q214R | het unknown | 0.281 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests |
0.25 | IL12RB1-R156H | het unknown | 0.102 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.029 (benign), Testable gene in GeneTests |
0.25 | HPS4-Q620H | het unknown | 0.806 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: 0.859 (probably damaging), Testable gene in GeneTests with associated GeneReview |
0.25 | HPS4-H601Y | het unknown | 0.807 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
0.25 | HPS4-V547M | het unknown | 0.780 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
0.25 | HPS4-E224G | het unknown | 0.779 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
0.25 | SCN1B-L210P | het unknown | 0.424 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: Unknown, Testable gene in GeneTests |
0.25 | SCN1B-R214Q | het unknown | Unknown | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests | |
0.25 | SCN1B-S248R | het unknown | 0.099 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: Unknown, Testable gene in GeneTests |
0.25 | SCN1B-R250T | het unknown | 0.105 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: Unknown, Testable gene in GeneTests |
0.25 | IL7R-I66T | het unknown | 0.597 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests |
0.25 | IL7R-V138I | het unknown | 0.689 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests |
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 | ACADS-G209S | het unknown | 0.128 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: 0.993 (probably damaging), Testable gene in GeneTests |
0.25 | B3GALTL-E370K | het unknown | 0.612 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.088 (benign), Testable gene in GeneTests with associated GeneReview |
0.25 | NR_002144-DDDFE68Del | het unknown | Unknown | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: Unknown | |
0.25 | NR_002144-SE75P | het unknown | Unknown | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: Unknown | |
0.25 | NR_002144-L77Shift | het unknown | Unknown | Insufficiently evaluated | Prioritization score: 2 Frameshift | |
0.25 | NR_002144-Q280R | homozygous | 0.858 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
0.25 | NR_002144-Y307H | homozygous | 0.858 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
0.25 | NR_002144-L312R | homozygous | 0.856 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
0.25 | ATP7B-V1140A | het unknown | 0.495 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
0.25 | ATP7B-R952K | het unknown | 0.481 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
0.25 | ATP7B-K832R | het unknown | 0.455 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: 0.461 (possibly damaging), Testable gene in GeneTests with associated GeneReview |
0.25 | ATP7B-V456L | het unknown | 0.360 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: 0.006 (benign), Testable gene in GeneTests with associated GeneReview |
0.25 | ATP7B-S406A | het unknown | 0.355 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: 0.001 (benign), Testable gene in GeneTests with associated GeneReview |
0.25 | SLC25A15-I254L | het unknown | 0.325 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests |
0.25 | NEFM-P439T | het unknown | 0.870 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
0.25 | NEFM-D464G | het unknown | Unknown | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: Unknown | |
0.25 | NEFM-S783Shift | het unknown | Unknown | Insufficiently evaluated | Prioritization score: 2 Frameshift | |
0.25 | KRT1-K633R | het unknown | 0.281 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests |
0.25 | KRT1-SSYGSGG557Del | het unknown | 0.426 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: Unknown, Testable gene in GeneTests |
0.25 | PFKM-R100Q | het unknown | 0.164 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.01 (benign), Testable gene in GeneTests |
0.25 | NBN-E185Q | het unknown | 0.338 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
0.25 | RP1-R872H | het unknown | 0.291 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.001 (benign), Testable gene in GeneTests |
0.25 | RP1-N985Y | het unknown | 0.206 | Unknown benign | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: 0.958 (probably damaging), Testable gene in GeneTests |
0.25 | RP1-A1670T | het unknown | 0.265 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.001 (benign), Testable gene in GeneTests |
0.25 | RP1-S1691P | het unknown | 0.295 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests |
0.25 | RP1-C2033Y | het unknown | 0.186 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: 0.957 (probably damaging), Testable gene in GeneTests |
0.25 | KRT5-D197E | het unknown | 0.276 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: 0.005 (benign), Testable gene in GeneTests with associated GeneReview |
0.25 | CHRNA2-T125A | het unknown | 0.644 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
0.25 | CHRNA2-T22I | het unknown | 0.256 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
0.25 | ESCO2-A80V | het unknown | 0.147 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
0.25 | COL1A2-P549A | het unknown | 0.907 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
0.25 | ABCB1-S893A | het unknown | 0.625 | Unknown pharmacogenetic | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
0.25 | MYH6-V1101A | het unknown | 0.422 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
0.25 | RPGRIP1-K192E | het unknown | 0.446 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
0.25 | RPGRIP1-E1033Q | het unknown | 0.256 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
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 | PLG-D472N | het unknown | 0.151 | Unknown pharmacogenetic | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
0.25 | EYA4-G277S | het unknown | 0.467 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.697 (possibly damaging), Testable gene in GeneTests with associated GeneReview |
0.25 | SOD2-V16A | het unknown | 0.362 | Unknown pharmacogenetic | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
0.25 | GARS-P42A | het unknown | 0.654 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
0.25 | BBS9-A455T | het unknown | 0.135 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
0.25 | LIG4-T9I | het unknown | 0.132 | Unknown pharmacogenetic | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: 0.966 (probably damaging) |
0.25 | C13orf40-R6075C | homozygous | Unknown | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: Unknown | |
0.25 | C13orf40-L6011P | homozygous | Unknown | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: Unknown | |
0.25 | C13orf40-F5916L | homozygous | Unknown | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: Unknown | |
0.25 | C13orf40-N5750S | homozygous | Unknown | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: Unknown | |
0.25 | C13orf40-R5644T | homozygous | Unknown | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: Unknown | |
0.25 | C13orf40-S4943P | homozygous | Unknown | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: Unknown | |
0.25 | C13orf40-G4893S | het unknown | Unknown | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: Unknown | |
0.25 | C13orf40-V3805I | het unknown | Unknown | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: Unknown | |
0.25 | C13orf40-T3015I | het unknown | Unknown | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: Unknown | |
0.25 | C13orf40-T2812P | het unknown | Unknown | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: Unknown | |
0.25 | C13orf40-G2410R | homozygous | Unknown | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: Unknown | |
0.25 | C13orf40-E2111Q | het unknown | Unknown | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: Unknown | |
0.25 | C13orf40-A1822P | het unknown | Unknown | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: Unknown | |
0.25 | C13orf40-N1704H | het unknown | Unknown | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: Unknown | |
0.25 | C13orf40-C1275* | het unknown | Unknown | Insufficiently evaluated | Prioritization score: 2 Nonsense mutation | |
0.25 | C13orf40-P773L | het unknown | Unknown | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: Unknown | |
0.25 | C13orf40-I96V | het unknown | Unknown | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: Unknown | |
0.25 | C13orf40-C82S | het unknown | Unknown | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: Unknown | |
0.25 | ELN-G422S | het unknown | 0.225 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
0.25 | GLI3-P998L | het unknown | 0.444 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
0.25 | AOAH-I487Shift | het unknown | Unknown | Insufficiently evaluated | Prioritization score: 2 Frameshift | |
0.25 | AOAH-D28N | homozygous | 0.334 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: 0.135 (benign) |
0.25 | TXNDC3-C208R | het unknown | 0.740 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
0.25 | 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 |
0.25 | SLC30A8-R325W | het unknown | 0.225 | Unknown pharmacogenetic | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
0.25 | GYS2-Q655H | het unknown | 0.008 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: 0.001 (benign), Testable gene in GeneTests |
0.25 | GYS2-M363V | het unknown | 0.729 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests |
0.25 | F2-T165M | het unknown | 0.280 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: 0.346 (possibly damaging), Testable gene in GeneTests with associated GeneReview |
0.25 | MADD-V751M | het unknown | 0.315 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests |
0.25 | PCDH15-D440A | het unknown | 0.343 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
0.25 | MYO3A-R1313S | het unknown | 0.620 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests |
0.25 | C10orf68-I39V | homozygous | Unknown | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: Unknown | |
0.25 | C10orf68-G388A | homozygous | Unknown | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: Unknown | |
0.25 | C10orf68-K493Shift | het unknown | Unknown | Insufficiently evaluated | Prioritization score: 2 Frameshift | |
0.25 | C10orf68-V607I | homozygous | Unknown | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: Unknown | |
0.25 | ANXA11-R230C | het unknown | 0.382 | Unknown pharmacogenetic | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: 1.0 (probably damaging) |
0.25 | BMPR1A-P2T | het unknown | 0.549 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
0.25 | 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 | TH-V108M | het unknown | 0.416 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
0.25 | CALHM1-L86P | het unknown | 1.000 | Unknown pharmacogenetic | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
0.25 | ABCC8-A1369S | het unknown | 0.755 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
0.25 | LIPA-G23R | het unknown | 0.139 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests |
0.25 | LIPA-T16P | het unknown | 0.251 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.002 (benign), Testable gene in GeneTests |
0.25 | USH1C-E819D | het unknown | 0.408 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
0.25 | IGHMBP2-L201S | het unknown | 0.650 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests |
0.25 | IGHMBP2-T879K | het unknown | 0.185 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests |
0.25 | ALG8-N222S | het unknown | 0.120 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: 0.001 (benign), Testable gene in GeneTests with associated GeneReview |
0.25 | DPAGT1-I393V | het unknown | 0.431 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
0.25 | ABCA1-K1587R | het unknown | 0.486 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests |
0.25 | TRPM6-K1584E | het unknown | 0.274 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: 0.854 (probably damaging), Testable gene in GeneTests |
0.25 | TRPM6-V1393I | het unknown | 0.160 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.013 (benign), Testable gene in GeneTests |
0.25 | CD163L1-E914* | het unknown | Unknown | Insufficiently evaluated | Prioritization score: 2 Nonsense mutation | |
0.25 | CD163L1-L523M | homozygous | 0.998 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
0.25 | C12orf60-K65R | het unknown | Unknown | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: Unknown | |
0.25 | C12orf60-N103K | het unknown | Unknown | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: Unknown | |
0.25 | C12orf60-M184Shift | het unknown | Unknown | Insufficiently evaluated | Prioritization score: 2 Frameshift | |
0.25 | GPT-H14N | het unknown | 0.363 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
0.25 | FKTN-R203Q | het unknown | 0.177 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.166 (benign), Testable gene in GeneTests with associated GeneReview |
0.25 | IKBKAP-P1158L | het unknown | 0.268 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
0.25 | IKBKAP-C1072S | het unknown | 0.270 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
0.25 | TTF1-A290S | het unknown | 0.177 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests |
0.25 | TSC1-M322T | het unknown | 0.150 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
0.25 | SETX-I2587V | het unknown | 0.591 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
0.25 | SETX-T1855A | het unknown | 0.508 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
0.25 | SETX-I1386V | het unknown | 0.494 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
0.25 | SETX-G1252R | het unknown | 0.494 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
0.25 | SETX-D1192E | het unknown | 0.598 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
0.25 | EXPH5-N1967D | homozygous | 0.989 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
0.25 | EXPH5-I1735Shift | het unknown | Unknown | Insufficiently evaluated | Prioritization score: 2 Frameshift | |
0.25 | EXPH5-R19G | het unknown | 0.355 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
0.25 | MUSK-S159G | het unknown | 0.134 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: 0.001 (benign), Testable gene in GeneTests with associated GeneReview |
0.25 | AK293718-D97N | het unknown | Unknown | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: Unknown | |
0.25 | AK293718-P73Shift | het unknown | Unknown | Insufficiently evaluated | Prioritization score: 2 Frameshift | |
0.25 | ENPP1-A124Shift | het unknown | Unknown | Insufficiently evaluated | Prioritization score: 3 Frameshift, Testable gene in GeneTests | |
0.25 | ENPP1-K173Q | het unknown | 0.404 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: 0.15 (benign), Testable gene in GeneTests |
0.25 | C17orf55-V50L | het unknown | Unknown | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: Unknown | |
0.25 | C17orf55-A49Shift | het unknown | Unknown | Insufficiently evaluated | Prioritization score: 2 Frameshift | |
0.25 | 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 | ABCG2-Q141K | het unknown | 0.131 | Unknown pharmacogenetic | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: 0.548 (possibly damaging) |
0.25 | ABCG2-V12M | het unknown | 0.122 | Unknown pharmacogenetic | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
0.25 | JUP-M697L | het unknown | 0.520 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
0.25 | BRCA1-S1634G | het unknown | 0.292 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
0.25 | BRCA1-K1183R | het unknown | 0.302 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
0.25 | BRCA1-E1038G | het unknown | 0.265 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: 0.462 (possibly damaging), Testable gene in GeneTests with associated GeneReview |
0.25 | BRCA1-P871L | het unknown | 0.555 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
0.25 | UGT2B7-Y268H | het unknown | 0.727 | Unknown pharmacogenetic | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
0.25 | KRT10-G565GGYGGGSSSGG | het unknown | Unknown | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests | |
0.25 | KRT10-I101S | homozygous | 1.000 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: Unknown, Testable gene in GeneTests |
0.25 | MANBA-T701M | het unknown | 0.554 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests |
0.25 | MANBA-V253I | het unknown | 0.343 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.003 (benign), Testable gene in GeneTests |
0.25 | AIPL1-D90H | het unknown | 0.210 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: 0.029 (benign), Testable gene in GeneTests with associated GeneReview |
0.25 | SLC22A16-H49R | het unknown | 0.333 | Unknown pharmacogenetic | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
0.25 | SLC6A19-V252I | het unknown | 0.192 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests |
0.25 | FGB-R478K | het unknown | 0.146 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests |
0.25 | AK298931-E88Q | het unknown | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: Unknown | |
0.25 | AK298931-W38* | het unknown | Unknown | Insufficiently evaluated | Prioritization score: 2 Nonsense mutation | |
0.25 | AK298931-T4S | het unknown | Unknown | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: Unknown | |
0.25 | MYO15A-A595T | het unknown | 0.557 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: Unknown, Testable gene in GeneTests |
0.25 | MYO15A-W718G | het unknown | 0.100 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: Unknown, Testable gene in GeneTests |
0.25 | MYO15A-C1977R | homozygous | 0.746 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: Unknown, Testable gene in GeneTests |
0.25 | MYO15A-Y2682F | het unknown | 0.215 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests |
0.25 | CNGA1-D187N | het unknown | 0.228 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests |
0.25 | CNGA1-S3F | het unknown | 0.401 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: Unknown, Testable gene in GeneTests |
0.25 | TLR6-S249P | het unknown | 0.855 | Unknown pharmacogenetic | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
0.25 | CDCP1-D709G | homozygous | 0.867 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
0.25 | CDCP1-Q525R | het unknown | 0.716 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
0.25 | CDCP1-N96Shift | het unknown | Unknown | Insufficiently evaluated | Prioritization score: 2 Frameshift | |
0.25 | AXIN2-P50S | het unknown | 0.264 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests |
0.25 | UNC13D-K867E | het unknown | 0.596 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
0.25 | ACOX1-I312M | het unknown | 0.492 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests |
0.25 | SGSH-R456H | het unknown | 0.302 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests |
0.25 | FANCD2-P714L | het unknown | 0.246 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
0.25 | HGD-Q80H | het unknown | 0.742 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
0.25 | TBX4-G6A | het unknown | 0.219 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.497 (possibly damaging), Testable gene in GeneTests |
0.25 | ITGA2B-I874S | het unknown | 0.255 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests |
0.25 | TLR1-S602I | het unknown | 0.727 | Unknown pharmacogenetic | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
0.25 | TLR1-N248S | het unknown | 0.643 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: 0.001 (benign) |
0.25 | HTT-T1720N | het unknown | 0.263 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
0.25 | HTT-Y2309H | het unknown | 0.459 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
0.25 | ITGB3-L59P | het unknown | 0.109 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.02 (benign), Testable gene in GeneTests |
0.25 | PLD1-A622S | het unknown | 0.151 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests |
0.25 | CLCN2-T668S | het unknown | 0.378 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests |
0.25 | GLTPD2-R235Shift | het unknown | Unknown | Insufficiently evaluated | Prioritization score: 2 Frameshift | |
0.25 | GLTPD2-V265L | homozygous | Unknown | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: Unknown | |
0.25 | ACADSB-R13K | het unknown | 0.171 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.08 (benign), Testable gene in GeneTests |
0.25 | ACADSB-I316V | het unknown | 0.055 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: Unknown, Testable gene in GeneTests |
0.25 | TRIM15-S324N | het unknown | 0.155 | Unknown pharmacogenetic | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
0.25 | LITAF-I92V | het unknown | 0.102 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
0.25 | SRCAP-T1101K | het unknown | Unknown | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: Unknown | |
0.25 | SRCAP-T1157Shift | het unknown | Unknown | Insufficiently evaluated | Prioritization score: 2 Frameshift | |
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 | CDHR2-V424A | homozygous | 1.000 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
0.25 | CDHR2-M465L | het unknown | 0.039 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: Unknown |
0.25 | CDHR2-G564R | het unknown | 0.016 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: Unknown |
0.25 | CDHR2-N1122Shift | het unknown | Unknown | Insufficiently evaluated | Prioritization score: 2 Frameshift | |
0.25 | CDHR2-Q1124P | het unknown | Unknown | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: Unknown | |
0.25 | CDHR2-T1128M | het unknown | 0.261 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
0.25 | CLCN7-V418M | het unknown | 0.103 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
0.25 | GATM-Q110H | het unknown | 0.651 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
0.25 | ELOVL4-M299V | het unknown | 0.213 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests |
0.25 | FIG4-V654A | het unknown | 0.467 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 3 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: 3 Polyphen 2: 0.001 (benign), Testable gene in GeneTests with associated GeneReview |
0.25 | SERPINA1-R125H | het unknown | 0.140 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: 0.001 (benign), Testable gene in GeneTests with associated GeneReview |
0.25 | MUT-I671V | het unknown | 0.522 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
0.25 | SLC28A2-S75R | het unknown | 0.253 | Unknown pharmacogenetic | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
0.25 | SPG11-F463S | het unknown | 0.470 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
0.25 | GM2A-I59V | het unknown | 0.642 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests |
0.25 | GM2A-M69V | het unknown | 0.826 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests |
0.25 | BBS2-I123V | het unknown | 0.251 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
0.25 | BBS2-S70N | homozygous | 0.992 | Unknown benign | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
0.25 | FBN2-V965I | het unknown | 0.714 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
0.25 | SLC22A4-I306T | het unknown | 0.588 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: 0.001 (benign) |
0.25 | SLC22A4-L503F | het unknown | 0.142 | Unknown pharmacogenetic | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
0.25 | WDR36-I264V | het unknown | 0.223 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests |
0.25 | VCAN-K1516R | het unknown | 0.480 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 3 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: 3 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: 3 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: 3 Polyphen 2: 0.11 (benign), Testable gene in GeneTests with associated GeneReview |
0.25 | NR_027336-P160L | het unknown | Unknown | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: Unknown | |
0.25 | NR_027336-V73F | het unknown | Unknown | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: Unknown | |
0.25 | NR_027336-W23* | het unknown | Unknown | Insufficiently evaluated | Prioritization score: 2 Nonsense mutation | |
0.25 | ARSB-V358M | het unknown | 0.249 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.117 (benign), Testable gene in GeneTests |
0.25 | IL13-Q144R | het unknown | 0.766 | Unknown pharmacogenetic | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
0.25 | C5orf20-R117* | het unknown | Unknown | Insufficiently evaluated | Prioritization score: 2 Nonsense mutation | |
0.25 | C5orf20-N97D | het unknown | Unknown | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: Unknown | |
0.25 | C5orf20-T75P | het unknown | Unknown | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: Unknown | |
0.25 | SPINK5-Q267R | het unknown | 0.475 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests |
0.25 | SPINK5-A335V | het unknown | 0.381 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests |
0.25 | SPINK5-S368N | het unknown | 0.363 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests |
0.25 | SPINK5-D386N | het unknown | 0.372 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests |
0.25 | SPINK5-K420E | het unknown | 0.380 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests |
0.25 | SPINK5-R711Q | het unknown | 0.469 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests |
0.25 | SPINK5-E825D | het unknown | 0.164 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: Unknown, Testable gene in GeneTests |
0.25 | SLC26A2-I574T | het unknown | 0.994 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
0.25 | CETP-V422I | het unknown | 0.494 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests |
0.25 | GPR56-S281R | het unknown | 0.750 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
0.25 | SRA1-V110RL | het unknown | 0.360 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
0.25 | TAT-P15S | het unknown | 0.110 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.002 (benign), Testable gene in GeneTests |
0 | 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 | H6PD-R453Q | het unknown | 0.407 | Recessive pathogenic | Low clinical importance, uncertain | This common variant may have a small pathogenic effect by contributing to cortisone reductase deficiency (a rare abnormality) when homozygous and combined with a serious pathogenic variant. The same authors have tested and ruled out a contribution to polycystic ovary syndrome (similar phenotype, more common disease). |
Input file format: CGIVAR
Genome build: b37
Genome coverage: 2,746,006,275 bases (97.0% of callable positions, 90.8% of total positions)
Coding region coverage: 32,857,423 bases (98.9% of all genes, 99.4% 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