Variant report for hu342A08
- Data source: CGI sample GS01175-DNA_B05 from PGP sample 83494370
- This report: evidence.pgp-hms.org/genomes?54eeff493bbbf0a21691ff7ea5fd9e4ae7480152
- Person ID: hu342A08
- public profile: my.pgp-hms.org/profile/hu342A08
- Download: source data, dbSNP and nsSNP report (126 MB)
- Processing status: processing
- Show debugging info
Log file:
Row number | Variant | Clinical Importance | Evidence | Impact | Allele freq | Summary | Sufficient |
---|---|---|---|---|---|---|---|
1 | ABCA4-G863A | High | Well-established | Well-established pathogenic Recessive, Carrier (Heterozygous) | 0.00492657 | Various publications report this variant causes Stargardt Disease in a recessive manner, when combined with another more severe variant. Stargardt disease causes progressive vision loss and blindness. | 1 |
2 | COL9A3-R103W | Moderate | Likely | Likely pathogenic Dominant, Heterozygous | 0.0480573 | Carriers of this collagen variant are associated with having a significantly increased risk of lumbar disc disease (~11% total risk compared to a typical risk of 4%). | 1 |
3 | WFS1-C426Y | Moderate | Uncertain | Uncertain pathogenic Dominant, Heterozygous | 0.0012084 | Reported in a single case of familial depression, but no linkage data and no statistical significance. | 1 |
4 | CFTR-S1235R | Moderate | Uncertain | Uncertain pathogenic Recessive, Carrier (Heterozygous) | 0.00529838 | Reported to cause mild dysfunction of the cystic fibrosis gene, it may result in cystic fibrosis when combined with more severe variants. | 1 |
5 | MEFV-E148Q | Moderate | Uncertain | Uncertain pathogenic Recessive, Carrier (Heterozygous) | 0.0120929 | Some reports believe this cause Familial Mediterranean Fever in a recessive manner with reduced penetrance (i.e. not all get the disease). However, these reports lack strong statistical significance; other studies argue the variant is not associated with the disease. | 1 |
6 | COL4A1-Q1334H | Low | Likely | Likely pathogenic Dominant, Heterozygous | 0.324689 | This common variant has been associated with arterial stiffness and, in Japanese, a small increased risk of myocardial infarction (MI, a.k.a. heart attack). This last observation supported a dominant effect for this variant and, assuming a lifetime risk of 15% for MI, we estimate carriers have an additional risk of 0.5-3%. | 1 |
7 | rs5186 | Low | Likely | Likely pathogenic Unknown, Heterozygous | 0.214878 | This common noncoding genetic variant has an allele frequency of ~30% and is associated with an increased risk of hypertension. If ~25% of non-carriers have hypertension, Bonnardeaux et al's data predict ~4% increased risk of hypertension per copy of this variant. This SNP is in the 3' noncoding region of the AGTR1 transcript (angiotensin II type 1 receptor), also known as AT2R1 or AT1R, which is a target of hypertension drugs. | 1 |
8 | 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 |
9 | SP110-L425S | Low | Uncertain | Uncertain pathogenic Unknown, Homozygous | 0.863357 | This variant is associated with a slightly increased risk of tuberculosis. It is unclear whether it is itself causal, or in linkage disequilibrium with some other causal variant that has a stronger effect. | 1 |
10 | TP53-P72R | Low | Uncertain | Uncertain pathogenic Unknown, Heterozygous | 0.627743 | This is a common variant was first reported as a polymorphism. It has since had mixed associations with cancer: Storey et al. conclude a 7x *increased* risk of HPV cancer for homozygotes vs hets, but Jones et al. find a 1.98x *decreased* risk for colorectal cancer. This variant may have significant impact on particular cancers, but it is unclear what effect it has on the overall burden of cancer. | 1 |
11 | CLEC7A-Y238X | Low | Uncertain | Uncertain pathogenic Recessive, Carrier (Heterozygous) | 0.0632088 | This variant has been found to impair homan mucosal antifungal defense and was implicated in vulvovaginal candidiasis and mucocutaneous infections in a Dutch family. | 1 |
12 | BRCA2-N372H | Low | Uncertain | Uncertain pathogenic Recessive, Carrier (Heterozygous) | 0.23656 | This is a common variant of BRCA2 (HapMap allele frequency of 23%). The variant is weakly associated with an increased chance of breast cancer, and zygosity of the variant is associated with sex of children: male children are more likely to be homozygous for this variant, female children are more likely to be heterozygous. | 1 |
13 | rs1544410 | Low | Uncertain | Uncertain pharmacogenetic Unknown, Homozygous | 0.351562 | rs1544410 is a Vitamin D Receptor (VDR) single nucleotide polymorphism. It is unlikely that it has functional significance because it is located in an intron (Liu et. al.), but it is in strong linkage disequilibrium with rs731236 (Dvornyk et al), which is located in an exon. | 1 |
14 | ABCC6-R1268Q | Low | Uncertain | Uncertain pharmacogenetic Unknown, Heterozygous | 0.218907 | This common polymorphism appears to not have a significant phenotypic impact. A few studies report weak but significant associations with plasma lipids (in Inuits) and thalidomide toxicity. | 1 |
15 | FUT2-W154X | Moderate | Well-established | Well-established protective Recessive, Carrier (Heterozygous) | 0.490519 | This recessive protective variant confers resistance to norovirus (which causes stomach flu). 20% of Caucasians and Africans are homozygous for this variant and are "non-secretors": they do not express ABO blood type antigens in their saliva or mucosal surfaces. Most strains of norovirus bind to these antigens in the gut, and so this non-secretor status confers almost total resistantance to most types of norovirus. There are notable exceptions, some strains of norovirus bind a different target and are equally infectious for secretors and non-secretors. | 1 |
16 | PRNP-M129V | Low | Well-established | Well-established protective Complex/Other, 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 |
17 | CCR5-S185Shift | Low | Well-established | Well-established protective Recessive, Carrier (Heterozygous) | 0.047619 | Also known as CCR5-delta32, this variant is associated with resistance to many strains of HIV (but not all strains, only strains that use target the CCR5 protein). Heterozygotes are reported to have slower HIV progression, and homozygotes are very resistant to being infected by these strains. | 1 |
18 | CASP10-V410I | Low | Likely | Likely protective Dominant, Heterozygous | 0.0474066 | Reported to have a protective effect on breast cancer. If the lifetime risk of breast cancer is 12%, women with this variant may have a lower risk of 8-9% (30% less than average). | 1 |
19 | KCNJ11-K23E | Low | Likely | Likely protective Unknown, Homozygous | 0.738148 | This variant is associated with decreased risk of type 2 diabetes. It is unclear whether this variant has additive effects, or acts in a dominant or recessive manner. Assuming diabetes has a lifetime risk of 36%, we estimate a decreased risk of around 1-2% per copy of this variant. | 1 |
20 | TOR1A-D216H | Low | Likely | Likely protective Unknown, Heterozygous | 0.102993 | This SNP has been shown to be benign and play a protective role against Dystonia. | 1 |
21 | ABCG5-R50C | Low | Likely | Likely protective Unknown, Heterozygous | 0.0684142 | This variant has a mild protective effect on blood cholesterol. It is associated with slightly lower total and LDL cholesterol levels. | 1 |
22 | LOXL1-R141L | Low | Uncertain | Uncertain benign Complex/Other, Heterozygous | 0.255899 | Associated with exfoliative glaucoma & syndrome (XFG & XFS) in various populations, but with contradicting results (protective in Caucasians, pathogenic in Japanese). Based on this it seems the variation itself -- although it affects protein structure -- is not itself causing disease. Instead it is likely associated with other nearby causal variants. As such, it is evaluated as benign by GET-Evidence (which focuses on reporting causal variants). See detailed variant report for disease risk associations. | 1 |
23 | RNASEH2B-I309Shift | Low | Uncertain | Uncertain benign Unknown, Homozygous | 0.0234375 | This variant is predicted to be highly disruptive. Although other disruptive variants in this gene are reported to cause Aicardi-Goutieres syndrome in a recessive manner (a rare, fatal childhood disease), those variants were upstream of this position, and this variant is too common to be consistent with causing that disease (2% allele frequency). Based on this, it is tentatively evaluated as benign. | 1 |
24 | ENPP1-R774C | Low | Uncertain | Uncertain benign Unknown, Heterozygous | 0.0258412 | Tentatively classified as benign. Initially reported as a recessive cause of infantile arterial calcification, but with no statistical significance. Other variants have been implicated as causal in these cases this variant. 5% allele frequency in caucasians contradicts this variant as having any highly pathogenic effect. | 1 |
25 | 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 |
26 | PTCH1-P1315L | Low | Uncertain | Uncertain benign Unknown, Homozygous | 0.29631 | Common polymorphism, presumed benign. | 1 |
27 | 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 |
28 | PCSK9-G670E | Low | Uncertain | Uncertain benign Unknown, Homozygous | 0.888269 | This variant is likely benign. | 1 |
29 | APOB-Y1422C | Low | Uncertain | Uncertain benign Unknown, Homozygous | 0.999628 | This position is almost certainly an error in the HG18 reference sequence. | 1 |
30 | 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 |
31 | ABCA4-R943Q | Low | Uncertain | Uncertain benign Unknown, Heterozygous | 0.0316044 | This is a polymorphism in a gene associated with Stargardt disease. Although it has a slight detectable effect in functional study, it is common in control groups and is not believed to have any significant pathogenic effect. | 1 |
32 | TPCN2-G734E | Low | Uncertain | Uncertain benign Unknown, Heterozygous | 0.286166 | Pigmentation allele. | 1 |
33 | TAS2R38-A49P | Low | Uncertain | Uncertain benign Unknown, Heterozygous | 0.431121 | This variant is strongly associated with causing the "taster" phenotype of phenylthiocarbamine (PTC) in a dominant manner. | 1 |
34 | TAS2R38-I296V | Low | Uncertain | Uncertain benign Unknown, Heterozygous | 0.463376 | This variant is associated with "taster" status of PTC, along with 49P and 262A. Due to linkage disequilibrium, the independent effects of positions 296 and 262 is unclear. The presence of 49P confers taster status in a dominant fashion, but in the absence of 49P, the presence of 262A/296V is still positively associated with tasting PTC. | 1 |
35 | 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 |
Row number | Variant | Prioritization score | Allele freq | Num of articles | Zygosity and Prioritization Score Reasons | Sufficient |
---|
Exome coverage: 32806251 / 33212919 = 98.78%
Row number | Gene | Chromosome | Coverage | Missing | Length | Missing regions |
---|---|---|---|---|---|---|
1 | AGRN | 1 | 0.95096122515477 | 301 | 6138 | 955553-955616, 955619-955624, 955634-955642, 955658-955660, 976238, 976251-976260, 976661-976695, 981935, 981959-981987, 982024, 983604-983745 |
2 | GABRD | 1 | 0.95658572479765 | 59 | 1359 | 1950863-1950873, 1950875, 1950884-1950930 |
3 | NPHP4 | 1 | 0.99976640971736 | 1 | 4281 | 5935153 |
4 | ESPN | 1 | 0.86003898635478 | 359 | 2565 | 6485103-6485108, 6488319-6488336, 6488378-6488392, 6488426-6488432, 6500725-6500798, 6500836-6500868, 6501097-6501103, 6505726-6505738, 6505776-6505820, 6505846-6505894, 6508701-6508705, 6508730-6508766, 6508922-6508928, 6511907-6511942, 6512127-6512133 |
5 | PLEKHG5 | 1 | 0.989024772656 | 35 | 3189 | 6534123-6534129, 6534132-6534134, 6534140-6534142, 6534148, 6534152-6534157, 6534164, 6534547-6534555, 6534592, 6557380-6557383 |
6 | KIF1B | 1 | 0.99378881987578 | 33 | 5313 | 10357005, 10357015, 10357021, 10381804-10381805, 10425548-10425558, 10425584-10425600 |
7 | CTRC | 1 | 0.99876084262701 | 1 | 807 | 15770003 |
8 | CLCNKA | 1 | 0.98643410852713 | 28 | 2064 | 16353846-16353852, 16354391-16354397, 16358268-16358274, 16360141-16360147 |
9 | CLCNKB | 1 | 0.99031007751938 | 20 | 2064 | 16373044-16373050, 16383399-16383411 |
10 | ATP13A2 | 1 | 0.99774202653119 | 8 | 3543 | 17322611-17322618 |
11 | PINK1 | 1 | 0.9971363115693 | 5 | 1746 | 20960194-20960195, 20960197, 20960212, 20960330 |
12 | HSPG2 | 1 | 0.99400425015179 | 79 | 13176 | 22181469-22181476, 22199128-22199135, 22263648-22263710 |
13 | WNT4 | 1 | 0.92708333333333 | 77 | 1056 | 22469339-22469415 |
14 | SEPN1 | 1 | 0.89028776978417 | 183 | 1668 | 26126722-26126904 |
15 | HPCA | 1 | 0.99828178694158 | 1 | 582 | 33359439 |
16 | KCNQ4 | 1 | 0.99904214559387 | 2 | 2088 | 41284262-41284263 |
17 | CLDN19 | 1 | 0.99555555555556 | 3 | 675 | 43201567-43201569 |
18 | SLC2A1 | 1 | 0.99932386747803 | 1 | 1479 | 43395421 |
19 | MPL | 1 | 0.99895178197065 | 2 | 1908 | 43818343, 43818356 |
20 | STIL | 1 | 0.99870700801655 | 5 | 3867 | 47765809, 47765812-47765815 |
21 | DHCR24 | 1 | 0.99806576402321 | 3 | 1551 | 55352579, 55352589, 55352599 |
22 | PCSK9 | 1 | 0.997113997114 | 6 | 2079 | 55505553-55505558 |
23 | ALG6 | 1 | 0.99869281045752 | 2 | 1530 | 63885045-63885046 |
24 | LEPR | 1 | 0.9991423670669 | 3 | 3498 | 66083647-66083648, 66083668 |
25 | CTH | 1 | 0.9991789819376 | 1 | 1218 | 70883626 |
26 | GLMN | 1 | 0.99775910364146 | 4 | 1785 | 92731980-92731981, 92732028, 92732047 |
27 | DPYD | 1 | 0.98927875243665 | 33 | 3078 | 97847949-97847951, 97847997-97848017, 98060683, 98060717-98060722, 98144710, 98144724 |
28 | DBT | 1 | 0.99930986887509 | 1 | 1449 | 100701061 |
29 | COL11A1 | 1 | 0.97214586769287 | 152 | 5457 | 103356057, 103363689, 103364222-103364319, 103364497-103364502, 103364533, 103377748, 103405916, 103427756-103427760, 103435775, 103435785-103435793, 103435803-103435828, 103455090, 103488458 |
30 | GSTM1 | 1 | 0.98934550989346 | 7 | 657 | 110235885-110235891 |
31 | NOTCH2 | 1 | 0.97330097087379 | 198 | 7416 | 120458203, 120539665-120539714, 120539739-120539745, 120539778-120539784, 120539913-120539939, 120547962-120547968, 120548022-120548058, 120548091-120548097, 120572544-120572575, 120611960, 120611964, 120612000-120612020 |
32 | FLG | 1 | 0.94756277695716 | 639 | 12186 | 152276114, 152276149, 152276279-152276285, 152276487-152276493, 152276583, 152276598, 152276616, 152276626-152276628, 152276656-152276674, 152276696-152276729, 152276758-152276785, 152276848, 152276855, 152276865, 152276871, 152276889, 152277011-152277058, 152277081-152277117, 152277345, 152277714-152277720, 152277881-152277887, 152278047-152278049, 152278430-152278437, 152278659-152278692, 152278811-152278817, 152278853-152278879, 152279016-152279031, 152279403-152279409, 152279725-152279750, 152279757-152279784, 152279848, 152280032, 152280170, 152280347, 152280468-152280474, 152280559, 152280573, 152280594-152280617, 152280643-152280652, 152280733-152280762, 152280782, 152280788, 152280900, 152281039, 152281304, 152281479, 152281520-152281537, 152281621-152281649, 152281872-152281914, 152281948, 152281984, 152281991, 152283427-152283433, 152284122-152284155, 152284811-152284817, 152285128, 152285137, 152285185-152285233 |
33 | CHRNB2 | 1 | 0.99867461895295 | 2 | 1509 | 154544375-154544376 |
34 | LMNA | 1 | 0.99647266313933 | 2 | 567 | 156105080-156105081 |
35 | LMNA | 1 | 0.99899749373434 | 2 | 1995 | 156105080-156105081 |
36 | SEMA4A | 1 | 0.99868766404199 | 3 | 2286 | 156142691-156142693 |
37 | NTRK1 | 1 | 0.99790882475951 | 5 | 2391 | 156830729, 156830753, 156830766-156830768 |
38 | DDR2 | 1 | 0.99844236760125 | 4 | 2568 | 162688898-162688901 |
39 | SLC19A2 | 1 | 0.99933065595716 | 1 | 1494 | 169438027 |
40 | F5 | 1 | 0.99715355805243 | 19 | 6675 | 169510367, 169510380, 169510502, 169510515, 169510524, 169510634-169510640, 169511618-169511624 |
41 | RNASEL | 1 | 0.99640610961366 | 8 | 2226 | 182545478, 182545496-182545501, 182555116 |
42 | HMCN1 | 1 | 0.9995268511947 | 8 | 16908 | 186094795-186094802 |
43 | PDC | 1 | 0.94871794871795 | 38 | 741 | 186418540-186418575, 186418590-186418591 |
44 | CFH | 1 | 0.98160173160173 | 68 | 3696 | 196648753-196648756, 196648798, 196648801-196648807, 196658553, 196658665-196658676, 196658683-196658688, 196658719-196658720, 196659356, 196695934, 196706686-196706716, 196706741, 196706759 |
45 | CFHR5 | 1 | 0.99824561403509 | 3 | 1710 | 196953114, 196953139-196953140 |
46 | ASPM | 1 | 0.99511213341001 | 51 | 10434 | 197069580, 197069584-197069588, 197069712, 197104304-197104345, 197113160-197113161 |
47 | USH2A | 1 | 0.99654045742841 | 54 | 15609 | 215916519-215916558, 215916563, 215931993-215931999, 215956208, 216369919-216369922, 216496871 |
48 | GJC2 | 1 | 0.88181818181818 | 156 | 1320 | 228345663, 228345674, 228345722-228345753, 228345788, 228345888-228345937, 228346037, 228346085, 228346092, 228346106, 228346127, 228346140-228346168, 228346338-228346356, 228346364, 228346367-228346371, 228346378-228346379, 228346387, 228346398-228346401, 228346424, 228346429-228346431, 228346602 |
49 | LYST | 1 | 0.98904085568999 | 125 | 11406 | 235840841, 235875357-235875358, 235875394-235875400, 235875473-235875497, 235897851, 235897866, 235933484, 235944217-235944241, 235944349-235944355, 235950500-235950528, 235950552, 235950596, 235950640, 235950649, 235950653, 235950658, 235950665-235950672, 235967872, 235967948-235967953, 235967964, 235972291, 235972294-235972296 |
50 | MTR | 1 | 0.99973670352817 | 1 | 3798 | 237013644 |
51 | RYR2 | 1 | 0.99490069779925 | 76 | 14904 | 237821244-237821295, 237881770, 237881776-237881777, 237881784-237881787, 237969490-237969506 |
52 | FH | 1 | 0.99804305283757 | 3 | 1533 | 241669404-241669406 |
53 | NLRP3 | 1 | 0.99357119897139 | 20 | 3111 | 247587314-247587333 |
54 | DCLRE1C | 10 | 0.996632996633 | 7 | 2079 | 14981847-14981853 |
55 | CUBN | 10 | 0.99935614422369 | 7 | 10872 | 17085968-17085970, 17142209-17142212 |
56 | PTF1A | 10 | 0.96555217831814 | 34 | 987 | 23481676, 23481866-23481871, 23481904-23481930 |
57 | PDSS1 | 10 | 0.98798076923077 | 15 | 1248 | 26994229, 26994243-26994250, 26994255-26994260 |
58 | MASTL | 10 | 0.99924156238149 | 2 | 2637 | 27448591-27448592 |
59 | RET | 10 | 0.98026905829596 | 66 | 3345 | 43572714-43572779 |
60 | ERCC6 | 10 | 0.99977688531905 | 1 | 4482 | 50738776 |
61 | CHAT | 10 | 0.92790387182911 | 162 | 2247 | 50822275-50822436 |
62 | PCDH15 | 10 | 0.99354729156054 | 38 | 5889 | 55587204, 55587209-55587211, 55826548, 55973733-55973746, 56128952, 56128976, 56138665-56138668, 56138701, 56287572-56287583 |
63 | PRF1 | 10 | 0.99700239808153 | 5 | 1668 | 72358459-72358463 |
64 | CDH23 | 10 | 0.99930389817025 | 7 | 10056 | 73537535-73537541 |
65 | LDB3 | 10 | 0.99496336996337 | 11 | 2184 | 88441376-88441383, 88476084, 88476171, 88476179 |
66 | HPS1 | 10 | 0.99240265906933 | 16 | 2106 | 100187000-100187015 |
67 | PAX2 | 10 | 0.99846035411855 | 2 | 1299 | 102566308-102566309 |
68 | HPS6 | 10 | 0.99742268041237 | 6 | 2328 | 103827019-103827024 |
69 | SUFU | 10 | 0.9979381443299 | 3 | 1455 | 104263974, 104263979-104263980 |
70 | COL17A1 | 10 | 0.99977748108589 | 1 | 4494 | 105793948 |
71 | HTRA1 | 10 | 0.87733887733888 | 177 | 1443 | 124221169-124221274, 124221285-124221291, 124221320-124221361, 124221370-124221391 |
72 | OAT | 10 | 0.99848484848485 | 2 | 1320 | 126089551-126089552 |
73 | SLC25A22 | 11 | 0.99074074074074 | 9 | 972 | 792633, 792646, 792661-792667 |
74 | TH | 11 | 0.98920634920635 | 17 | 1575 | 2191929, 2191933-2191935, 2191943-2191953, 2191956, 2191990 |
75 | KCNQ1 | 11 | 0.99162973904481 | 17 | 2031 | 2466394-2466398, 2466401-2466404, 2466570-2466577 |
76 | CDKN1C | 11 | 0.82439537329127 | 167 | 951 | 2905950-2905963, 2905969-2905974, 2906070-2906073, 2906076-2906081, 2906097-2906124, 2906139-2906141, 2906145, 2906148-2906160, 2906163-2906177, 2906188-2906194, 2906201-2906212, 2906227-2906228, 2906238-2906239, 2906246, 2906289-2906331, 2906437-2906446 |
77 | SMPD1 | 11 | 0.99947257383966 | 1 | 1896 | 6411935 |
78 | SBF2 | 11 | 0.99675675675676 | 18 | 5550 | 9838392-9838397, 10014065-10014076 |
79 | USH1C | 11 | 0.97740740740741 | 61 | 2700 | 17531105-17531132, 17531153, 17531156, 17531179-17531180, 17531295-17531323 |
80 | ANO5 | 11 | 0.97665937272064 | 64 | 2742 | 22249084-22249087, 22276967, 22276977, 22277001-22277013, 22277016-22277029, 22277037, 22277039-22277068 |
81 | WT1 | 11 | 0.9993564993565 | 1 | 1554 | 32456835 |
82 | PDHX | 11 | 0.99933598937583 | 1 | 1506 | 34991727 |
83 | RAG1 | 11 | 0.99968071519796 | 1 | 3132 | 36594935 |
84 | ALX4 | 11 | 0.99919093851133 | 1 | 1236 | 44331164 |
85 | SLC35C1 | 11 | 0.99905303030303 | 1 | 1056 | 45827806 |
86 | MADD | 11 | 0.9993932038835 | 3 | 4944 | 47300606, 47331116-47331117 |
87 | RAPSN | 11 | 0.98708635996772 | 16 | 1239 | 47470445-47470460 |
88 | SERPING1 | 11 | 0.99933466400532 | 1 | 1503 | 57365750 |
89 | TMEM216 | 11 | 0.99621212121212 | 1 | 264 | 61165280 |
90 | ROM1 | 11 | 0.99242424242424 | 8 | 1056 | 62381084, 62381337-62381343 |
91 | BSCL2 | 11 | 0.99928005759539 | 1 | 1389 | 62472932 |
92 | SLC22A12 | 11 | 0.99638989169675 | 6 | 1662 | 64367192, 64367272-64367276 |
93 | PC | 11 | 0.99971727452643 | 1 | 3537 | 66620094 |
94 | AIP | 11 | 0.99697885196375 | 3 | 993 | 67257559, 67257562, 67257567 |
95 | LRP5 | 11 | 0.98349834983498 | 80 | 4848 | 68080183-68080262 |
96 | DHCR7 | 11 | 0.9936974789916 | 9 | 1428 | 71146577-71146584, 71146594 |
97 | MYO7A | 11 | 0.9998495788207 | 1 | 6648 | 76922295 |
98 | DYNC2H1 | 11 | 0.97612977983778 | 309 | 12945 | 102984266, 102984283-102984290, 102984299-102984332, 102984348, 102984373, 102988426, 102991676, 102999683, 102999699-102999700, 103014045-103014064, 103018560, 103023005-103023006, 103029425-103029430, 103029440-103029441, 103029449-103029454, 103029527-103029528, 103031669, 103036759, 103039677, 103043811-103043868, 103043926, 103043936-103043939, 103043943-103043946, 103044022-103044034, 103049779, 103049784, 103052544, 103052550, 103057045-103057051, 103057058-103057096, 103059226-103059229, 103059239, 103059252, 103059263-103059272, 103059283-103059288, 103062251-103062252, 103062968-103062993, 103070174, 103070180, 103082535-103082536, 103082590, 103082670-103082672, 103124019, 103130629, 103130678, 103187278-103187303 |
99 | ATM | 11 | 0.9913858903064 | 79 | 9171 | 108098518, 108126961-108126971, 108126976-108126983, 108126993-108127046, 108127050-108127052, 108196130, 108196152 |
100 | DLAT | 11 | 0.99279835390947 | 14 | 1944 | 111909970-111909972, 111909998-111909999, 111910113-111910121 |
101 | ROBO3 | 11 | 0.99831771208844 | 7 | 4161 | 124748633-124748639 |
102 | WNK1 | 12 | 0.99986012029654 | 1 | 7149 | 968533 |
103 | CACNA1C | 12 | 0.99862825788752 | 9 | 6561 | 2794934-2794940, 2797845-2797846 |
104 | VWF | 12 | 0.98910210850509 | 92 | 8442 | 6103081, 6125338-6125344, 6127532-6127538, 6128170, 6128339-6128345, 6128554-6128560, 6131926-6131932, 6131955-6131982, 6132007-6132033 |
105 | ATN1 | 12 | 0.9930030786454 | 25 | 3573 | 7045600-7045608, 7045904, 7045914-7045922, 7045929-7045932, 7050617-7050618 |
106 | AICDA | 12 | 0.99497487437186 | 3 | 597 | 8756880-8756882 |
107 | ABCC9 | 12 | 0.99397849462366 | 28 | 4650 | 21962833, 21962842, 21962849-21962854, 21962859, 21962862-21962864, 21962875, 21962882-21962884, 21998550-21998553, 21998567, 21998570-21998571, 21998597, 22063804, 22063807, 22063815, 22063826 |
108 | KRAS | 12 | 0.99649122807018 | 2 | 570 | 25380207-25380208 |
109 | KIF21A | 12 | 0.99739269955876 | 13 | 4986 | 39709033-39709042, 39760304, 39761726, 39761832 |
110 | LRRK2 | 12 | 0.98549578059072 | 110 | 7584 | 40634363, 40645140, 40645156, 40707825-40707838, 40716973, 40716996, 40740564, 40745474-40745483, 40753065, 40761478-40761556 |
111 | IRAK4 | 12 | 0.99855386840202 | 2 | 1383 | 44166737, 44180326 |
112 | MLL2 | 12 | 0.9906103286385 | 156 | 16614 | 49418433-49418444, 49424178, 49426563-49426592, 49426602-49426626, 49426726-49426734, 49426737, 49426740, 49426743-49426753, 49426772-49426774, 49427006-49427021, 49427262-49427290, 49427639, 49427662, 49427665-49427670, 49431318-49431321, 49434283-49434286, 49434291, 49445562 |
113 | TUBA1A | 12 | 0.95175438596491 | 22 | 456 | 49522195-49522216 |
114 | KRT81 | 12 | 0.98221343873518 | 27 | 1518 | 52681437, 52682999-52683005, 52683862-52683873, 52684950-52684956 |
115 | KRT86 | 12 | 0.98631074606434 | 20 | 1461 | 52695994-52696000, 52697081-52697092, 52697952 |
116 | KRT83 | 12 | 0.99797570850202 | 3 | 1482 | 52713089-52713091 |
117 | KRT6B | 12 | 0.97581120943953 | 41 | 1695 | 52843632-52843637, 52844237-52844243, 52845365-52845371, 52845432-52845438, 52845571-52845577, 52845798-52845804 |
118 | KRT6C | 12 | 0.95221238938053 | 81 | 1695 | 52864945-52864973, 52865295-52865300, 52867024-52867030, 52867091-52867108, 52867230-52867236, 52867372-52867378, 52867457-52867463 |
119 | KRT6A | 12 | 0.98466076696165 | 26 | 1695 | 52884735, 52886542-52886559, 52886908-52886914 |
120 | KRT5 | 12 | 0.99097574732092 | 16 | 1773 | 52908842, 52908845, 52908850-52908855, 52908883-52908890 |
121 | KRT1 | 12 | 0.99638242894057 | 7 | 1935 | 53069321-53069327 |
122 | RDH5 | 12 | 0.99059561128527 | 9 | 957 | 56115582-56115590 |
123 | KIF5A | 12 | 0.99612778315586 | 12 | 3099 | 57944102-57944113 |
124 | LEMD3 | 12 | 0.99671052631579 | 9 | 2736 | 65612332-65612335, 65612350, 65612357, 65612387, 65612398-65612399 |
125 | CEP290 | 12 | 0.97540322580645 | 183 | 7440 | 88443128-88443136, 88462325, 88462330-88462332, 88462337-88462348, 88462355-88462402, 88472886, 88472984-88472985, 88479816, 88490686, 88490700-88490701, 88490717, 88496726-88496727, 88496775, 88505471, 88505475-88505476, 88505480, 88505574-88505583, 88505588-88505593, 88505631, 88513911, 88513945, 88513949, 88513952-88513959, 88513973-88514012, 88519023, 88519093-88519099, 88522723-88522738, 88530504, 88530512, 88532965 |
126 | SYCP3 | 12 | 0.9803094233474 | 14 | 711 | 102122909-102122911, 102122914-102122924 |
127 | PAH | 12 | 0.99926416482708 | 1 | 1359 | 103288640 |
128 | MYL2 | 12 | 0.99001996007984 | 5 | 501 | 111348902-111348904, 111348928-111348929 |
129 | ATXN2 | 12 | 0.95788939624556 | 166 | 3942 | 112036705, 112036711-112036717, 112036739-112036743, 112036754-112036785, 112036789-112036797, 112036807-112036821, 112036880-112036906, 112036913-112036920, 112036929-112036936, 112036949-112036950, 112036956-112036957, 112037000, 112037008-112037013, 112037017-112037027, 112037031, 112037037-112037044, 112037053, 112037105, 112037206-112037226 |
130 | TBX3 | 12 | 0.99955197132616 | 1 | 2232 | 115112278 |
131 | HNF1A | 12 | 0.99789029535865 | 4 | 1896 | 121434366-121434369 |
132 | SACS | 13 | 0.99912663755459 | 12 | 13740 | 23908620-23908628, 23908638-23908640 |
133 | B3GALTL | 13 | 0.99265197060788 | 11 | 1497 | 31860946-31860956 |
134 | BRCA2 | 13 | 0.99795261772448 | 21 | 10257 | 32906599-32906617, 32920974, 32920986 |
135 | SLC25A15 | 13 | 0.99779249448124 | 2 | 906 | 41381572-41381573 |
136 | SUCLA2 | 13 | 0.99568965517241 | 6 | 1392 | 48528283, 48542735, 48542759, 48571073-48571075 |
137 | RB1 | 13 | 0.98205956225332 | 50 | 2787 | 48934236, 48939038, 48941632-48941636, 48941640-48941643, 48941663-48941664, 48941672, 48941679, 48942663-48942664, 48947555-48947558, 48947571, 48947580-48947584, 48947596-48947600, 48947615-48947620, 48947624, 49039216-49039226 |
138 | ZIC2 | 13 | 0.9068167604753 | 149 | 1599 | 100634398-100634401, 100634410, 100634594-100634600, 100635004-100635040, 100637597, 100637703, 100637710, 100637716-100637719, 100637722-100637741, 100637751, 100637755, 100637786-100637792, 100637795, 100637800-100637806, 100637816-100637818, 100637824-100637868, 100637880, 100637883, 100637903-100637908 |
139 | PCCA | 13 | 0.99222679469593 | 17 | 2187 | 100764106-100764120, 100909915, 100909918 |
140 | ERCC5 | 13 | 0.99858457183298 | 6 | 4239 | 103468790, 103468796, 103468850-103468853 |
141 | F10 | 13 | 0.99045671438309 | 14 | 1467 | 113777177-113777190 |
142 | PABPN1 | 14 | 0.85776330076004 | 131 | 921 | 23790739-23790757, 23790789, 23790798, 23790816, 23790850, 23790867-23790915, 23790931-23790986, 23791001, 23791004, 23791015 |
143 | NRL | 14 | 0.99859943977591 | 1 | 714 | 24550590 |
144 | PCK2 | 14 | 0.99895995839834 | 2 | 1923 | 24568259-24568260 |
145 | FOXG1 | 14 | 0.77006802721088 | 338 | 1470 | 29236538-29236594, 29236624-29236626, 29236637, 29236640, 29236674-29236949 |
146 | FANCM | 14 | 0.98487066861884 | 93 | 6147 | 45623919-45623928, 45623942-45623995, 45628445, 45628448, 45628455-45628467, 45636305, 45650652, 45650692, 45650868-45650869, 45650888, 45652977-45652978, 45653032, 45653085, 45653090, 45653098, 45668076, 45669146 |
147 | C14orf104 | 14 | 0.99522673031026 | 12 | 2514 | 50100980-50100991 |
148 | SYNE2 | 14 | 0.99440262497587 | 116 | 20724 | 64457692-64457709, 64457735-64457770, 64460611-64460624, 64483283-64483294, 64494385, 64494436, 64497776-64497787, 64519141-64519155, 64522863, 64522871-64522873, 64556301, 64556350-64556351 |
149 | ZFYVE26 | 14 | 0.99868766404199 | 10 | 7620 | 68241769-68241771, 68241778-68241780, 68244313-68244316 |
150 | EIF2B2 | 14 | 0.98106060606061 | 20 | 1056 | 75471521-75471525, 75471530, 75471535-75471540, 75471585-75471592 |
151 | MLH3 | 14 | 0.99954149472719 | 2 | 4362 | 75506689, 75506692 |
152 | ESRRB | 14 | 0.99934512115259 | 1 | 1527 | 76964701 |
153 | VIPAR | 14 | 0.99460188933873 | 8 | 1482 | 77894750-77894757 |
154 | GALC | 14 | 0.99368318756074 | 13 | 2058 | 88448549-88448553, 88448556-88448557, 88448563-88448568 |
155 | SPATA7 | 14 | 0.99444444444444 | 10 | 1800 | 88859803, 88859821-88859826, 88883115, 88883146, 88883179 |
156 | TTC8 | 14 | 0.99160206718346 | 13 | 1548 | 89305819, 89305842-89305848, 89305851, 89337896-89337898, 89343669 |
157 | ATXN3 | 14 | 0.9548802946593 | 49 | 1086 | 92537354, 92559599, 92559602-92559609, 92559616-92559629, 92559636-92559655, 92559658-92559662 |
158 | VRK1 | 14 | 0.96557514693535 | 41 | 1191 | 97304110-97304113, 97304116-97304119, 97304125-97304127, 97304130-97304154, 97322523-97322527 |
159 | AMN | 14 | 0.99779735682819 | 3 | 1362 | 103396589-103396591 |
160 | INF2 | 14 | 0.92 | 300 | 3750 | 105173771-105173780, 105173859-105174124, 105174173-105174192, 105177483-105177486 |
161 | NIPA1 | 15 | 0.82020202020202 | 178 | 990 | 23086234-23086411 |
162 | UBE3A | 15 | 0.99391171993912 | 16 | 2628 | 25602032, 25616251-25616257, 25616620-25616626, 25616750 |
163 | SPRED1 | 15 | 0.99850187265918 | 2 | 1335 | 38614491-38614492 |
164 | CHST14 | 15 | 0.9973474801061 | 3 | 1131 | 40763413, 40763522, 40763528 |
165 | TTBK2 | 15 | 0.99625167336011 | 14 | 3735 | 43103909, 43109282-43109290, 43164912-43164915 |
166 | STRC | 15 | 0.98967717717718 | 55 | 5328 | 43896918, 43905048, 43910118-43910124, 43910863-43910908 |
167 | STRC | 15 | 0.99897435897436 | 2 | 1950 | 44009583, 44009608 |
168 | SPG11 | 15 | 0.99672667757774 | 24 | 7332 | 44912568-44912571, 44912575-44912588, 44941103, 44941107, 44941166-44941167, 44955639-44955640 |
169 | DUOX2 | 15 | 0.99784807402625 | 10 | 4647 | 45398348-45398356, 45398359 |
170 | SLC12A1 | 15 | 0.99272727272727 | 24 | 3300 | 48577378-48577387, 48577390-48577402, 48577439 |
171 | FBN1 | 15 | 0.99814298978644 | 16 | 8616 | 48776042-48776049, 48784668-48784674, 48784716 |
172 | CEP152 | 15 | 0.9987915407855 | 6 | 4965 | 49036453-49036454, 49073508-49073509, 49073517-49073518 |
173 | SCG3 | 15 | 0.99004975124378 | 14 | 1407 | 52005557-52005570 |
174 | HCN4 | 15 | 0.99723145071982 | 10 | 3612 | 73614822-73614824, 73614834, 73614905, 73615396, 73615401-73615403, 73660367 |
175 | RPS17 | 15 | 0.9828431372549 | 7 | 408 | 82823387-82823393 |
176 | RPS17 | 15 | 0.9828431372549 | 7 | 408 | 83207730-83207736 |
177 | FANCI | 15 | 0.99799347880612 | 8 | 3987 | 89843083-89843090 |
178 | POLG | 15 | 0.99677419354839 | 12 | 3720 | 89876826-89876836, 89876847 |
179 | MESP2 | 15 | 0.97654941373534 | 28 | 1194 | 90320121-90320146, 90320149, 90320161 |
180 | BLM | 15 | 0.97978373295722 | 86 | 4254 | 91337413-91337461, 91337470, 91337475, 91337501, 91337525-91337535, 91337541-91337562, 91337587 |
181 | VPS33B | 15 | 0.99946062567422 | 1 | 1854 | 91542219 |
182 | HBZ | 16 | 0.91841491841492 | 35 | 429 | 203945-203974, 204309-204313 |
183 | CLCN7 | 16 | 0.99958643507031 | 1 | 2418 | 1524896 |
184 | GFER | 16 | 0.94660194174757 | 33 | 618 | 2034228-2034231, 2034284, 2034333-2034336, 2034346-2034363, 2034366-2034370, 2034382 |
185 | TSC2 | 16 | 0.99963126843658 | 2 | 5424 | 2103398, 2103409 |
186 | PKD1 | 16 | 0.92642503097893 | 950 | 12912 | 2140959-2140991, 2141029, 2141145, 2141162-2141165, 2147195-2147196, 2147914-2147920, 2149862-2149879, 2149915-2149921, 2149952-2149968, 2150059, 2150070-2150071, 2150278-2150284, 2152124-2152134, 2152243-2152257, 2152387-2152388, 2152513-2152519, 2152552-2152573, 2152896-2152928, 2153295-2153312, 2153441-2153447, 2153502, 2153592-2153633, 2153711-2153727, 2153764-2153770, 2153820-2153826, 2154547-2154576, 2155875-2155895, 2155981-2155987, 2156018-2156025, 2156192-2156198, 2156241-2156254, 2156399-2156404, 2156427-2156472, 2156494-2156500, 2156588-2156613, 2156807-2156853, 2159144-2159150, 2159577-2159584, 2159712-2159718, 2159960-2159999, 2160134-2160140, 2160503, 2160718-2160732, 2160769-2160775, 2161153, 2161793, 2161796, 2162361, 2164432, 2164563-2164594, 2164803-2164812, 2166564-2166595, 2166834-2166845, 2166976-2167001, 2167545-2167568, 2167632-2167638, 2167870-2167878, 2167969-2168000, 2168056-2168075, 2168132-2168170, 2168231-2168271, 2168438-2168453, 2185504-2185510, 2185558-2185561, 2185567-2185569, 2185594-2185595, 2185662-2185690 |
187 | SLX4 | 16 | 0.99963669391462 | 2 | 5505 | 3652210, 3652222 |
188 | CREBBP | 16 | 0.99863555737481 | 10 | 7329 | 3778449-3778450, 3779332, 3779337, 3779368-3779369, 3929844-3929845, 3929878, 3929881 |
189 | ALG1 | 16 | 0.91827956989247 | 114 | 1395 | 5130969-5130999, 5131028-5131052, 5132560-5132606, 5132636, 5132657-5132659, 5134776-5134782 |
190 | ABCC6 | 16 | 0.98781028368794 | 55 | 4512 | 16295957, 16308229-16308235, 16315575-16315611, 16315665-16315674 |
191 | OTOA | 16 | 0.98830409356725 | 40 | 3420 | 21742158-21742182, 21752088-21752095, 21768527-21768533 |
192 | OTOA | 16 | 0.98493975903614 | 15 | 996 | 22568210-22568217, 22584667-22584673 |
193 | CLN3 | 16 | 0.99392558845862 | 8 | 1317 | 28497673-28497675, 28497686-28497690 |
194 | TUFM | 16 | 0.99926900584795 | 1 | 1368 | 28857419 |
195 | ATP2A1 | 16 | 0.99933466400532 | 2 | 3006 | 28911967-28911968 |
196 | PHKG2 | 16 | 0.92874692874693 | 87 | 1221 | 30760150-30760236 |
197 | FUS | 16 | 0.99557242251739 | 7 | 1581 | 31195711-31195717 |
198 | SLC5A2 | 16 | 0.99950470529965 | 1 | 2019 | 31500056 |
199 | SALL1 | 16 | 0.99672955974843 | 13 | 3975 | 51175656-51175660, 51175665-51175671, 51175680 |
200 | RPGRIP1L | 16 | 0.99366767983789 | 25 | 3948 | 53672233-53672240, 53672244-53672254, 53672268-53672269, 53672318, 53691460, 53730161, 53730164 |
201 | MMP2 | 16 | 0.99949571356531 | 1 | 1983 | 55513473 |
202 | CNGB1 | 16 | 0.99813631522897 | 7 | 3756 | 57973462-57973468 |
203 | HSD11B2 | 16 | 0.92857142857143 | 87 | 1218 | 67465155-67465157, 67465170, 67465191-67465233, 67465255-67465290, 67469986-67469989 |
204 | LCAT | 16 | 0.99092970521542 | 12 | 1323 | 67976984, 67976987-67976996, 67977003 |
205 | CDH3 | 16 | 0.9995983935743 | 1 | 2490 | 68679558 |
206 | HP | 16 | 0.97788697788698 | 27 | 1221 | 72091295, 72091307-72091308, 72091311, 72093014-72093036 |
207 | MLYCD | 16 | 0.97300944669366 | 40 | 1482 | 83932818-83932829, 83932844-83932854, 83932866, 83932879-83932880, 83932888, 83932983-83932988, 83932991-83932992, 83933021, 83933029, 83933084, 83933091-83933092 |
208 | FOXF1 | 16 | 0.9719298245614 | 32 | 1140 | 86544207-86544238 |
209 | GALNS | 16 | 0.9980879541109 | 3 | 1569 | 88923230-88923232 |
210 | SPG7 | 16 | 0.99748743718593 | 6 | 2388 | 89579413-89579416, 89579419-89579420 |
211 | FANCA | 16 | 0.99839743589744 | 7 | 4368 | 89805932, 89842215-89842220 |
212 | CTNS | 17 | 0.99833748960931 | 2 | 1203 | 3559792-3559793 |
213 | GUCY2D | 17 | 0.99667874396135 | 11 | 3312 | 7906373-7906375, 7906404-7906407, 7906411, 7906914-7906916 |
214 | HES7 | 17 | 0.97345132743363 | 18 | 678 | 8025000, 8025662-8025678 |
215 | MYH8 | 17 | 0.99982800137599 | 1 | 5814 | 10302127 |
216 | MYH2 | 17 | 0.99193271541366 | 47 | 5826 | 10446224-10446270 |
217 | MYH3 | 17 | 0.99982826721621 | 1 | 5823 | 10534936 |
218 | ELAC2 | 17 | 0.99637243047158 | 9 | 2481 | 12896189-12896197 |
219 | COX10 | 17 | 0.99399399399399 | 8 | 1332 | 14095309, 14095345-14095351 |
220 | RAI1 | 17 | 0.99790246460409 | 12 | 5721 | 17697106-17697111, 17697132-17697136, 17700891 |
221 | MYO15A | 17 | 0.99773435287454 | 24 | 10593 | 18024037-18024038, 18024044, 18049323, 18057097, 18057105-18057113, 18057130-18057137, 18057167, 18057192 |
222 | UNC119 | 17 | 0.98755186721992 | 9 | 723 | 26879387-26879395 |
223 | SLC6A4 | 17 | 0.99788695192816 | 4 | 1893 | 28538387-28538390 |
224 | NF1 | 17 | 0.9943661971831 | 48 | 8520 | 29422328-29422337, 29422353-29422357, 29422361-29422363, 29422368-29422373, 29422387, 29556221-29556236, 29664837, 29664861-29664865, 29665134 |
225 | KRT10 | 17 | 0.99316239316239 | 12 | 1755 | 38975099-38975103, 38975117-38975119, 38975131, 38975136, 38975317, 38975328 |
226 | KRT9 | 17 | 0.99786324786325 | 4 | 1872 | 39723886-39723889 |
227 | KRT14 | 17 | 0.94291754756871 | 81 | 1419 | 39738749-39738763, 39741304-39741309, 39742627-39742633, 39742811-39742835, 39742846-39742872, 39742894 |
228 | KRT16 | 17 | 0.91701828410689 | 118 | 1422 | 39766265-39766281, 39767609-39767615, 39768412-39768418, 39768490-39768496, 39768658-39768698, 39768721-39768759 |
229 | KRT17 | 17 | 0.98922247882987 | 14 | 1299 | 39780465-39780471, 39780516-39780522 |
230 | STAT5B | 17 | 0.9826565143824 | 41 | 2364 | 40371359-40371399 |
231 | WNK4 | 17 | 0.9994640943194 | 2 | 3732 | 40932839, 40932849 |
232 | SLC4A1 | 17 | 0.9937865497076 | 17 | 2736 | 42328585-42328586, 42328596-42328599, 42328816-42328826 |
233 | GRN | 17 | 0.996632996633 | 6 | 1782 | 42429566-42429567, 42429572, 42429879, 42429901, 42429920 |
234 | PLEKHM1 | 17 | 0.9993692841375 | 2 | 3171 | 43545893, 43555372 |
235 | WNT3 | 17 | 0.99812734082397 | 2 | 1068 | 44851216-44851217 |
236 | TRIM37 | 17 | 0.99481865284974 | 15 | 2895 | 57109291, 57134358-57134371 |
237 | BRIP1 | 17 | 0.996 | 15 | 3750 | 59793312-59793318, 59793343, 59793417, 59793424, 59934447, 59934501-59934504 |
238 | ACE | 17 | 0.99642948227493 | 14 | 3921 | 61554471, 61554478, 61554483-61554493, 61574564 |
239 | SCN4A | 17 | 0.9992741789149 | 4 | 5511 | 62029234-62029236, 62029239 |
240 | POLG2 | 17 | 0.99451303155007 | 8 | 1458 | 62476447-62476454 |
241 | AXIN2 | 17 | 0.99842022116904 | 4 | 2532 | 63554542-63554545 |
242 | COG1 | 17 | 0.99932042133877 | 2 | 2943 | 71189238, 71189247 |
243 | UNC13D | 17 | 0.99755575924229 | 8 | 3273 | 73832753, 73832759-73832764, 73832772 |
244 | SEPT9 | 17 | 0.92277115275412 | 136 | 1761 | 75494605-75494740 |
245 | SGSH | 17 | 0.99801192842942 | 3 | 1509 | 78194089-78194091 |
246 | FSCN2 | 17 | 0.99661933739013 | 5 | 1479 | 79495767-79495770, 79504059 |
247 | NDUFV2 | 18 | 0.988 | 9 | 750 | 9124922-9124929, 9126835 |
248 | AFG3L2 | 18 | 0.99958228905597 | 1 | 2394 | 12377045 |
249 | LAMA3 | 18 | 0.999400119976 | 6 | 10002 | 21269656-21269661 |
250 | DSC3 | 18 | 0.99665551839465 | 9 | 2691 | 28574334-28574338, 28602324-28602326, 28602340 |
251 | DSC2 | 18 | 0.98706577974871 | 35 | 2706 | 28659816-28659820, 28659843-28659855, 28659863-28659870, 28659891-28659899 |
252 | LOXHD1 | 18 | 0.97875226039783 | 141 | 6636 | 44126858-44126998 |
253 | MYO5B | 18 | 0.99332972778078 | 37 | 5547 | 47352944-47352980 |
254 | SMAD4 | 18 | 0.99879445449066 | 2 | 1659 | 48593436, 48593551 |
255 | TCF4 | 18 | 0.99751984126984 | 5 | 2016 | 53254343-53254347 |
256 | RAX | 18 | 0.99807877041306 | 2 | 1041 | 56936387-56936388 |
257 | LMAN1 | 18 | 0.98825831702544 | 18 | 1533 | 57000422-57000433, 57000444-57000449 |
258 | TNFRSF11A | 18 | 0.99513776337115 | 9 | 1851 | 59992594, 59992603-59992604, 59992607-59992611, 59992632 |
259 | CTDP1 | 18 | 0.9996534996535 | 1 | 2886 | 77440042 |
260 | ELANE | 19 | 0.87437810945274 | 101 | 804 | 853262-853362 |
261 | KISS1R | 19 | 0.98078529657477 | 23 | 1197 | 918634, 920303, 920317-920322, 920327, 920333-920334, 920376-920378, 920664, 920705, 920729-920735 |
262 | MAP2K2 | 19 | 0.92352452202826 | 92 | 1203 | 4123781-4123872 |
263 | TUBB4 | 19 | 0.99101123595506 | 12 | 1335 | 6495233-6495237, 6495567, 6495573, 6495578-6495579, 6495590, 6495604, 6495607 |
264 | C3 | 19 | 0.99759615384615 | 12 | 4992 | 6707093, 6707098-6707105, 6707109-6707111 |
265 | TYK2 | 19 | 0.99971941638608 | 1 | 3564 | 10476390 |
266 | PRKCSH | 19 | 0.99810964083176 | 3 | 1587 | 11558341-11558343 |
267 | CACNA1A | 19 | 0.98923015556442 | 81 | 7521 | 13318563, 13318662-13318668, 13318671-13318699, 13318702-13318704, 13318715, 13318779-13318797, 13318800-13318810, 13318831-13318833, 13319570-13319574, 13409597, 13409833 |
268 | NOTCH3 | 19 | 0.98492678725237 | 105 | 6966 | 15271895, 15271898-15271899, 15271907-15271910, 15281349-15281358, 15285052, 15285059-15285066, 15311638-15311716 |
269 | JAK3 | 19 | 0.99851851851852 | 5 | 3375 | 17940953-17940955, 17940992-17940993 |
270 | SLC5A5 | 19 | 0.99741200828157 | 5 | 1932 | 17984964-17984967, 17984970 |
271 | COMP | 19 | 0.99472295514512 | 12 | 2274 | 18900774, 18900786, 18900793, 18900796, 18900799-18900803, 18900812-18900814 |
272 | CEBPA | 19 | 0.78365831012071 | 233 | 1077 | 33792512, 33792515, 33792519, 33792658-33792661, 33792669-33792672, 33792682, 33792728-33792779, 33792853-33792875, 33792915-33792921, 33792926-33792930, 33792933, 33792984-33792985, 33793004-33793039, 33793140-33793182, 33793188-33793236, 33793298-33793300 |
273 | SCN1B | 19 | 0.95043370508055 | 40 | 807 | 35521725-35521764 |
274 | WDR62 | 19 | 0.99978127734033 | 1 | 4572 | 36558310 |
275 | RYR1 | 19 | 0.98862208110075 | 172 | 15117 | 38931405, 38987507, 38993366-38993367, 38998420, 38998424, 38998429, 39037164, 39055717-39055731, 39055759-39055858, 39055871-39055890, 39055897-39055925 |
276 | ACTN4 | 19 | 0.99671052631579 | 9 | 2736 | 39138539-39138547 |
277 | PRX | 19 | 0.96306429548564 | 162 | 4386 | 40901111-40901112, 40901310-40901328, 40909613-40909641, 40909649-40909698, 40909708-40909769 |
278 | TGFB1 | 19 | 0.99829497016198 | 2 | 1173 | 41837070, 41858921 |
279 | ATP1A3 | 19 | 0.99891245241979 | 4 | 3678 | 42470998-42471001 |
280 | BCAM | 19 | 0.99417064122946 | 11 | 1887 | 45312388, 45312413-45312421, 45324068 |
281 | DMPK | 19 | 0.99153439153439 | 16 | 1890 | 46285523-46285532, 46285535, 46285543, 46285546, 46285559, 46285592, 46285602 |
282 | FKRP | 19 | 0.99327956989247 | 10 | 1488 | 47259145-47259153, 47260093 |
283 | DBP | 19 | 0.97955010224949 | 20 | 978 | 49138840-49138856, 49138870-49138871, 49138876 |
284 | MED25 | 19 | 0.99866310160428 | 3 | 2244 | 50334095, 50334121, 50334129 |
285 | KCNC3 | 19 | 0.84564643799472 | 351 | 2274 | 50823503-50823575, 50826290, 50826293, 50826412-50826413, 50826432, 50826435, 50826454, 50831490-50831491, 50831511-50831523, 50831529-50831539, 50831709-50831714, 50831728-50831729, 50831782-50831786, 50831893-50831911, 50831920-50831968, 50831988, 50832023, 50832035-50832037, 50832147, 50832182-50832339 |
286 | KLK4 | 19 | 0.99869281045752 | 1 | 765 | 51412668 |
287 | PRKCG | 19 | 0.99331423113658 | 14 | 2094 | 54392977, 54392990-54392992, 54393175-54393176, 54393192, 54393210-54393211, 54393216, 54393219, 54393227-54393228, 54393251 |
288 | TNNT1 | 19 | 0.98986058301648 | 8 | 789 | 55652279-55652282, 55652320-55652323 |
289 | KLF11 | 2 | 0.97855750487329 | 33 | 1539 | 10183853-10183885 |
290 | APOB | 2 | 0.99795501022495 | 28 | 13692 | 21225307-21225322, 21239362-21239369, 21266752-21266754, 21266774 |
291 | OTOF | 2 | 0.98698698698699 | 78 | 5994 | 26699759-26699767, 26699789-26699791, 26699796-26699803, 26699806-26699834, 26699844-26699851, 26699855, 26699870, 26699882-26699885, 26699893-26699899, 26700117-26700124 |
292 | ALK | 2 | 0.98992391527863 | 49 | 4863 | 29451766-29451814 |
293 | SPAST | 2 | 0.89681253376553 | 191 | 1851 | 32289020-32289025, 32289062, 32289067-32289073, 32289076, 32289083-32289116, 32289119-32289132, 32289137-32289145, 32289149, 32289156-32289249, 32289278, 32323925, 32323936, 32323940, 32341262-32341281 |
294 | CYP1B1 | 2 | 0.99938725490196 | 1 | 1632 | 38302199 |
295 | SOS1 | 2 | 0.99550224887556 | 18 | 4002 | 39224394-39224406, 39224540-39224542, 39249824, 39285909 |
296 | ABCG5 | 2 | 0.9959100204499 | 8 | 1956 | 44058953-44058957, 44058970-44058972 |
297 | LRPPRC | 2 | 0.99856630824373 | 6 | 4185 | 44161368, 44161376-44161380 |
298 | MSH2 | 2 | 0.98716577540107 | 36 | 2805 | 47710021-47710056 |
299 | MSH6 | 2 | 0.99608131276023 | 16 | 4083 | 48010465-48010467, 48010510-48010514, 48010531-48010537, 48032757 |
300 | NRXN1 | 2 | 0.99593220338983 | 18 | 4425 | 50149115, 50758409-50758419, 50765569-50765574 |
301 | EFEMP1 | 2 | 0.94534412955466 | 81 | 1482 | 56102081-56102151, 56144942-56144947, 56144954-56144957 |
302 | MCEE | 2 | 0.92278719397363 | 41 | 531 | 71337184-71337224 |
303 | ALMS1 | 2 | 0.99552143314139 | 56 | 12504 | 73612997-73612998, 73613003-73613019, 73613029-73613044, 73613168-73613169, 73679412, 73679415-73679424, 73827996-73828002, 73828342 |
304 | DCTN1 | 2 | 0.99843627834246 | 6 | 3837 | 74592662-74592667 |
305 | GGCX | 2 | 0.99912165129556 | 2 | 2277 | 85782625, 85788521 |
306 | REEP1 | 2 | 0.94719471947195 | 32 | 606 | 86564602-86564633 |
307 | EIF2AK3 | 2 | 0.99373321396598 | 21 | 3351 | 88879083-88879095, 88887539, 88887611, 88926730-88926735 |
308 | RPIA | 2 | 0.99893162393162 | 1 | 936 | 88991293 |
309 | TMEM127 | 2 | 0.99860529986053 | 1 | 717 | 96931082 |
310 | RANBP2 | 2 | 0.91638242894057 | 809 | 9675 | 109345588-109345601, 109347230, 109347317-109347341, 109347877-109347879, 109347891, 109352040-109352055, 109352099-109352105, 109357050-109357056, 109357110-109357126, 109363251-109363254, 109367751-109367775, 109368046-109368080, 109368104-109368110, 109368430-109368440, 109369918, 109369942-109369977, 109370345-109370363, 109370369-109370401, 109371385-109371402, 109371495-109371512, 109371632-109371633, 109374869-109374872, 109374915, 109378582-109378598, 109378650-109378651, 109382787-109382793, 109382937-109382946, 109382986-109383003, 109383052-109383058, 109383084-109383113, 109383137-109383148, 109383204-109383210, 109383268-109383289, 109383315-109383321, 109383354-109383360, 109383635-109383678, 109383702-109383727, 109383769-109383798, 109383822-109383840, 109383885-109383891, 109383986-109384013, 109384032-109384072, 109384164-109384205, 109384505-109384511, 109384542-109384587, 109384597-109384615, 109384628-109384652, 109384782-109384803, 109399154-109399155 |
311 | MERTK | 2 | 0.99966666666667 | 1 | 3000 | 112656327 |
312 | GLI2 | 2 | 0.9964293215711 | 17 | 4761 | 121729615, 121729619-121729621, 121729627-121729637, 121745813, 121747406 |
313 | BIN1 | 2 | 0.9983164983165 | 3 | 1782 | 127827639-127827641 |
314 | PROC | 2 | 0.98124098124098 | 26 | 1386 | 128180668, 128180699-128180723 |
315 | CFC1 | 2 | 0.98214285714286 | 12 | 672 | 131279530-131279532, 131280382, 131280809-131280816 |
316 | RAB3GAP1 | 2 | 0.99864222674813 | 4 | 2946 | 135815595, 135848572, 135848657, 135870721 |
317 | LCT | 2 | 0.99723374827109 | 16 | 5784 | 136564739-136564754 |
318 | NEB | 2 | 0.99589466306198 | 82 | 19974 | 152432727-152432743, 152432754-152432759, 152432764-152432814, 152432817-152432820, 152432823, 152551131-152551133 |
319 | SCN2A | 2 | 0.99385177799934 | 37 | 6018 | 166210912, 166221767-166221769, 166234115-166234125, 166234129-166234132, 166237156-166237171, 166237684, 166237693 |
320 | GALNT3 | 2 | 0.98843322818086 | 22 | 1902 | 166611235-166611238, 166611507-166611524 |
321 | SCN9A | 2 | 0.99814627569936 | 11 | 5934 | 167060909-167060912, 167060937-167060940, 167060973, 167089854, 167163581 |
322 | AGPS | 2 | 0.94031360647446 | 118 | 1977 | 178257613-178257617, 178285007-178285028, 178346787-178346814, 178346817-178346823, 178346825-178346830, 178346844, 178346847-178346878, 178346889-178346897, 178346907-178346913, 178362466 |
323 | PRKRA | 2 | 0.99044585987261 | 9 | 942 | 179308085-179308093 |
324 | TTN | 2 | 0.99959101428457 | 41 | 100248 | 179392369-179392370, 179392377-179392379, 179392383, 179392389, 179406255-179406262, 179415807, 179448474-179448476, 179523795-179523805, 179534949, 179538413-179538416, 179543161, 179543169-179543171, 179559401, 179565881 |
325 | COL3A1 | 2 | 0.98909338786639 | 48 | 4401 | 189850443, 189854147, 189856917, 189856924, 189871663-189871697, 189872646-189872653, 189872664 |
326 | COL5A2 | 2 | 0.99066666666667 | 42 | 4500 | 189909949, 189916907-189916909, 189916912-189916949 |
327 | PMS1 | 2 | 0.98535191139693 | 41 | 2799 | 190718678, 190718685-190718690, 190718696, 190718699, 190718728-190718741, 190718748, 190718775, 190718782-190718785, 190718807-190718808, 190718965-190718974 |
328 | STAT1 | 2 | 0.99822458943631 | 4 | 2253 | 191859858-191859860, 191859917 |
329 | HSPD1 | 2 | 0.99767711962834 | 4 | 1722 | 198351840-198351843 |
330 | CASP8 | 2 | 0.99814471243043 | 3 | 1617 | 202149607-202149608, 202149614 |
331 | ALS2 | 2 | 0.99899477281866 | 5 | 4974 | 202626274-202626276, 202626390-202626391 |
332 | BMPR2 | 2 | 0.99711260827719 | 9 | 3117 | 203384823-203384831 |
333 | ICOS | 2 | 0.99833333333333 | 1 | 600 | 204820400 |
334 | NDUFS1 | 2 | 0.99404761904762 | 13 | 2184 | 207012341-207012353 |
335 | FASTKD2 | 2 | 0.99953117674637 | 1 | 2133 | 207652784 |
336 | CPS1 | 2 | 0.99911170330891 | 4 | 4503 | 211455567-211455569, 211455580 |
337 | ABCA12 | 2 | 0.99833076527992 | 13 | 7788 | 215809814-215809820, 215809824-215809825, 215854147-215854150 |
338 | SMARCAL1 | 2 | 0.98987783595113 | 29 | 2865 | 217340072-217340073, 217340077, 217347538-217347557, 217347564-217347569 |
339 | WNT10A | 2 | 0.99681020733652 | 4 | 1254 | 219745748-219745751 |
340 | DES | 2 | 0.99504600141543 | 7 | 1413 | 220288509-220288515 |
341 | OBSL1 | 2 | 0.99543138288526 | 26 | 5691 | 220435686, 220435689, 220435703-220435704, 220435746, 220435749-220435757, 220435767-220435776, 220435946-220435947 |
342 | COL4A4 | 2 | 0.99881516587678 | 6 | 5064 | 227984625, 227984629-227984633 |
343 | COL4A3 | 2 | 0.99980051865151 | 1 | 5013 | 228163465 |
344 | SP110 | 2 | 0.99673202614379 | 7 | 2142 | 231067310-231067316 |
345 | UGT1A1 | 2 | 0.99750312109863 | 4 | 1602 | 234668951-234668954 |
346 | C20orf54 | 20 | 0.99858156028369 | 2 | 1410 | 744356-744357 |
347 | AVP | 20 | 0.94545454545455 | 27 | 495 | 3063295-3063296, 3063341-3063347, 3063392, 3063646, 3063672-3063675, 3063730, 3063739, 3063753-3063757, 3063762, 3063767-3063769, 3063775 |
348 | PANK2 | 20 | 0.99883245767659 | 2 | 1713 | 3870250, 3870253 |
349 | C20orf7 | 20 | 0.9971098265896 | 3 | 1038 | 13767969-13767971 |
350 | SNTA1 | 20 | 0.97694334650856 | 35 | 1518 | 32031171-32031177, 32031380-32031383, 32031391, 32031399-32031421 |
351 | SAMHD1 | 20 | 0.99415204678363 | 11 | 1881 | 35545178-35545184, 35545190-35545193 |
352 | CTSA | 20 | 0.99732798931196 | 4 | 1497 | 44520226, 44520238-44520240 |
353 | CD40 | 20 | 0.99760191846523 | 2 | 834 | 44756969-44756970 |
354 | COL9A3 | 20 | 0.99951338199513 | 1 | 2055 | 61456368 |
355 | KCNQ2 | 20 | 0.99847269950363 | 4 | 2619 | 62103705-62103706, 62103709, 62103720 |
356 | SOX18 | 20 | 0.69004329004329 | 358 | 1155 | 62680512-62680869 |
357 | IFNGR2 | 21 | 0.92800788954635 | 73 | 1014 | 34775850-34775922 |
358 | RCAN1 | 21 | 0.95388669301713 | 35 | 759 | 35987244-35987278 |
359 | HLCS | 21 | 0.99954149472719 | 1 | 2181 | 38309515 |
360 | AIRE | 21 | 0.98962148962149 | 17 | 1638 | 45710996-45710998, 45711003-45711008, 45713051-45713058 |
361 | ITGB2 | 21 | 0.99437229437229 | 13 | 2310 | 46308635-46308637, 46308648-46308652, 46308675-46308678, 46308697 |
362 | COL6A1 | 21 | 0.99902818270165 | 3 | 3087 | 47401784, 47401795-47401796 |
363 | FTCD | 21 | 0.98708487084871 | 21 | 1626 | 47565741-47565746, 47565761-47565775 |
364 | PCNT | 21 | 0.99900109879133 | 10 | 10011 | 47754449, 47832898-47832906 |
365 | PRODH | 22 | 0.99944536882973 | 1 | 1803 | 18923745 |
366 | GP1BB | 22 | 0.96779388083736 | 20 | 621 | 19711737-19711739, 19711742-19711743, 19711776, 19711779, 19711797-19711803, 19711814, 19711822-19711824, 19711827, 19711902 |
367 | TBX1 | 22 | 0.8635752688172 | 203 | 1488 | 19748428-19748599, 19748625-19748626, 19748641-19748644, 19753524, 19753927-19753934, 19753940-19753953, 19753958, 19753968 |
368 | CHEK2 | 22 | 0.96138557637706 | 68 | 1761 | 29083906-29083917, 29083946-29083965, 29085136-29085171 |
369 | NF2 | 22 | 0.99608501118568 | 7 | 1788 | 30074303-30074309 |
370 | TRIOBP | 22 | 0.96097492251338 | 277 | 7098 | 38119742-38119774, 38119798-38119804, 38119846-38119862, 38119883-38119905, 38119953-38120009, 38120037-38120068, 38120140-38120156, 38120193-38120199, 38120394-38120432, 38120444-38120486, 38120668, 38120676 |
371 | EP300 | 22 | 0.99986197377502 | 1 | 7245 | 41574193 |
372 | TNFRSF13C | 22 | 0.98918918918919 | 6 | 555 | 42322246, 42322250, 42322279, 42322320-42322322 |
373 | CYB5R3 | 22 | 0.98896247240618 | 10 | 906 | 43045304-43045313 |
374 | MLC1 | 22 | 0.96913580246914 | 35 | 1134 | 50502466-50502494, 50502526, 50502600-50502604 |
375 | TYMP | 22 | 0.97584541062802 | 35 | 1449 | 50964260-50964262, 50964268, 50964273, 50964437-50964439, 50964446, 50964450-50964454, 50964508, 50964694, 50964701, 50964709, 50964713-50964719, 50964725, 50964729-50964736, 50964827 |
376 | SHANK3 | 22 | 0.89836003051106 | 533 | 5244 | 51113070-51113132, 51113484-51113487, 51113492-51113498, 51113503, 51135951-51136143, 51158736-51158738, 51158742-51158827, 51158830-51158903, 51158914-51158924, 51158939-51158984, 51159024, 51159027-51159031, 51159033, 51159039, 51159048, 51159077-51159079, 51159118, 51159132-51159134, 51159149, 51159180, 51159183-51159184, 51159187, 51159190-51159192, 51169529, 51169534, 51169537, 51169557, 51169602, 51169609, 51169646, 51169650, 51169681, 51169685, 51169689-51169693, 51169709, 51169714, 51169717-51169720 |
377 | FANCD2 | 3 | 0.98482789855072 | 67 | 4416 | 10085532-10085539, 10088326-10088346, 10091149-10091156, 10106529-10106535, 10107165-10107171, 10108893-10108901, 10114941-10114947 |
378 | MLH1 | 3 | 0.99911933069133 | 2 | 2271 | 37067310, 37067343 |
379 | SCN5A | 3 | 0.9988113431822 | 7 | 5889 | 38592925-38592931 |
380 | ABHD5 | 3 | 0.99333333333333 | 7 | 1050 | 43756503-43756508, 43756523 |
381 | TMIE | 3 | 0.99363057324841 | 3 | 471 | 46751074-46751076 |
382 | COL7A1 | 3 | 0.99977362761743 | 2 | 8835 | 48627122-48627123 |
383 | FLNB | 3 | 0.99910359841209 | 7 | 7809 | 58062876, 58134008, 58134011, 58134049-58134052 |
384 | PDHB | 3 | 0.98518518518519 | 16 | 1080 | 58416469-58416484 |
385 | ATXN7 | 3 | 0.91437632135307 | 243 | 2838 | 63898275-63898339, 63898354-63898358, 63898378, 63898381-63898390, 63898420-63898581 |
386 | PROK2 | 3 | 0.9974358974359 | 1 | 390 | 71834181 |
387 | GBE1 | 3 | 0.93835941204362 | 130 | 2109 | 81754608-81754619, 81754630-81754666, 81754684-81754764 |
388 | CHMP2B | 3 | 0.99688473520249 | 2 | 642 | 87299093-87299094 |
389 | POU1F1 | 3 | 0.9916142557652 | 8 | 954 | 87313609-87313616 |
390 | PROS1 | 3 | 0.97095027080256 | 59 | 2031 | 93595864, 93595902-93595923, 93595959-93595986, 93595997-93596004 |
391 | ARL6 | 3 | 0.94830659536542 | 29 | 561 | 97503810, 97503829-97503831, 97503839, 97503844-97503850, 97503857-97503866, 97503877-97503883 |
392 | IQCB1 | 3 | 0.99499165275459 | 9 | 1797 | 121516031-121516038, 121547806 |
393 | CASR | 3 | 0.99969107198023 | 1 | 3237 | 122003526 |
394 | RHO | 3 | 0.99331423113658 | 7 | 1047 | 129251440-129251446 |
395 | NPHP3 | 3 | 0.954169797145 | 183 | 3993 | 132406042-132406049, 132432009, 132432062, 132438549-132438674, 132441070-132441106, 132441115-132441124 |
396 | FOXL2 | 3 | 0.97435897435897 | 29 | 1131 | 138664658-138664661, 138664671-138664675, 138664837-138664844, 138664866-138664877 |
397 | PLOD2 | 3 | 0.96837944664032 | 72 | 2277 | 145799527-145799529, 145799533, 145799590, 145802965-145802967, 145803007-145803013, 145804626-145804636, 145804640-145804643, 145804645-145804678, 145804683-145804687, 145828127-145828128, 145828133 |
398 | GFM1 | 3 | 0.99645390070922 | 8 | 2256 | 158399792-158399799 |
399 | IFT80 | 3 | 0.99785223367698 | 5 | 2328 | 159995418, 160000272, 160021715, 160075308, 160075344 |
400 | PDCD10 | 3 | 0.99843505477308 | 1 | 639 | 167405050 |
401 | SLC2A2 | 3 | 0.99873015873016 | 2 | 1575 | 170720440, 170720451 |
402 | MCCC1 | 3 | 0.99816345270891 | 4 | 2178 | 182755132-182755135 |
403 | OPA1 | 3 | 0.99475065616798 | 16 | 3048 | 193354987-193354988, 193355004-193355007, 193355064, 193363359-193363367 |
404 | IDUA | 4 | 0.99847094801223 | 3 | 1962 | 996626, 997192-997193 |
405 | FGFR3 | 4 | 0.99546765554182 | 11 | 2427 | 1808880-1808885, 1808914-1808918 |
406 | SH3BP2 | 4 | 0.9951534733441 | 9 | 1857 | 2820023-2820028, 2820034, 2820098, 2820101 |
407 | HTT | 4 | 0.99300031816736 | 66 | 9429 | 3076606-3076659, 3076663, 3076672, 3076683-3076691, 3213792 |
408 | DOK7 | 4 | 0.99405940594059 | 9 | 1515 | 3465252-3465260 |
409 | EVC | 4 | 0.98489425981873 | 45 | 2979 | 5713108-5713126, 5713142-5713159, 5713205, 5713227-5713228, 5713252, 5785469-5785472 |
410 | SLC2A9 | 4 | 0.99876771410967 | 2 | 1623 | 9982289-9982290 |
411 | CNGA1 | 4 | 0.94517543859649 | 125 | 2280 | 47954600-47954625, 47954643-47954644, 47954648-47954652, 47954689-47954720, 47972968-47973027 |
412 | SLC4A4 | 4 | 0.99969558599696 | 1 | 3285 | 72352704 |
413 | ALB | 4 | 0.99508196721311 | 9 | 1830 | 74274514-74274522 |
414 | CDS1 | 4 | 0.98917748917749 | 15 | 1386 | 85530582-85530594, 85560126, 85560143 |
415 | PKD2 | 4 | 0.99656002751978 | 10 | 2907 | 88928945-88928949, 88928952-88928953, 88929005-88929007 |
416 | SNCA | 4 | 0.88416075650118 | 49 | 423 | 90749294-90749335, 90756698-90756699, 90756702, 90756705-90756708 |
417 | MANBA | 4 | 0.99886363636364 | 3 | 2640 | 103592440-103592441, 103611758 |
418 | CISD2 | 4 | 0.95343137254902 | 19 | 408 | 103808512-103808522, 103808580-103808587 |
419 | CFI | 4 | 0.99942922374429 | 1 | 1752 | 110723082 |
420 | ANK2 | 4 | 0.99932625905339 | 8 | 11874 | 114213643-114213650 |
421 | BBS7 | 4 | 0.95065176908752 | 106 | 2148 | 122766740, 122775859-122775861, 122775865, 122775881-122775887, 122775893, 122775898, 122775908, 122775929-122775933, 122775943-122775975, 122782736-122782739, 122782748-122782772, 122782811-122782834 |
422 | SMAD1 | 4 | 0.99785407725322 | 3 | 1398 | 146461147-146461149 |
423 | FGA | 4 | 0.99384851980008 | 16 | 2601 | 155507938-155507953 |
424 | CTSO | 4 | 0.99482401656315 | 5 | 966 | 156864324-156864328 |
425 | GLRB | 4 | 0.91633199464525 | 125 | 1494 | 158041708-158041814, 158060077-158060094 |
426 | GK | 4 | 0.95126353790614 | 81 | 1662 | 166199386-166199392, 166199558-166199592, 166199701, 166200060-166200090, 166200504-166200510 |
427 | SDHA | 5 | 0.97744360902256 | 45 | 1995 | 228359-228399, 251469, 254599, 256472, 256509 |
428 | TERT | 5 | 0.99764636657841 | 8 | 3399 | 1293606, 1294680, 1294699, 1294718, 1294902, 1294906, 1295006, 1295088 |
429 | DNAH5 | 5 | 0.99351351351351 | 90 | 13875 | 13727656-13727682, 13727711, 13916461-13916516, 13916521, 13916527-13916531 |
430 | ANKH | 5 | 0.99323867478026 | 10 | 1479 | 14871540-14871549 |
431 | NIPBL | 5 | 0.9749257278669 | 211 | 8415 | 36972047-36972048, 37014855, 37016188, 37036481-37036589, 37044783-37044786, 37044807, 37048604-37048670, 37048688-37048696, 37048706-37048722 |
432 | LIFR | 5 | 0.98633879781421 | 45 | 3294 | 38482705-38482712, 38482723-38482727, 38482730, 38482732, 38482744-38482749, 38482759, 38490370-38490374, 38490383-38490388, 38506008-38506014, 38506019, 38506023-38506026 |
433 | OXCT1 | 5 | 0.97184900831734 | 44 | 1563 | 41862744-41862748, 41862758-41862779, 41862815, 41862819, 41862832-41862845, 41862849 |
434 | ITGA2 | 5 | 0.99407783417936 | 21 | 3546 | 52347241-52347243, 52347293-52347310 |
435 | ERCC8 | 5 | 0.98152812762385 | 22 | 1191 | 60170454-60170461, 60186822, 60186847-60186849, 60200655, 60200665, 60200670, 60200689, 60200696, 60224737-60224740, 60224750 |
436 | NDUFAF2 | 5 | 0.99607843137255 | 2 | 510 | 60448574, 60448585 |
437 | SMN2 | 5 | 0.99435028248588 | 5 | 885 | 69362949, 69363240, 69366546-69366547, 69372353 |
438 | SMN2 | 5 | 0.9954802259887 | 4 | 885 | 70238373, 70238664, 70241971-70241972 |
439 | HEXB | 5 | 0.99162178336326 | 14 | 1671 | 73981110-73981123 |
440 | AP3B1 | 5 | 0.97716894977169 | 75 | 3285 | 77311340, 77311349, 77411973-77412000, 77521387-77521395, 77563352, 77563366, 77563386-77563419 |
441 | RASA1 | 5 | 0.96405852417303 | 113 | 3144 | 86669980-86669984, 86669997-86669999, 86670031-86670037, 86670039, 86670045-86670137, 86679552-86679555 |
442 | MEF2C | 5 | 0.94725738396624 | 75 | 1422 | 88024310-88024321, 88024348-88024349, 88024360-88024369, 88024390-88024398, 88024405-88024445, 88119563 |
443 | GPR98 | 5 | 0.99630040695523 | 70 | 18921 | 89925135-89925145, 89941785-89941801, 89941843, 90007009-90007010, 90007015, 90020713-90020720, 90020755, 90020923, 90020942, 90124812, 90144551-90144573, 90144609, 90144617, 90144620 |
444 | WDR36 | 5 | 0.96778711484594 | 92 | 2856 | 110436315, 110436323, 110436326-110436327, 110436351-110436420, 110441756-110441773 |
445 | APC | 5 | 0.99542897327707 | 39 | 8532 | 112102909, 112102925, 112111326, 112128143-112128144, 112128160-112128186, 112128192-112128198 |
446 | FBN2 | 5 | 0.99565167639318 | 38 | 8739 | 127645000, 127702087-127702123 |
447 | MYOT | 5 | 0.97194388777555 | 42 | 1497 | 137221751, 137221770-137221771, 137221779-137221785, 137221795-137221799, 137221808-137221814, 137221833, 137221859, 137221862-137221866, 137221890-137221902 |
448 | MATR3 | 5 | 0.99646226415094 | 9 | 2544 | 138658512, 138658531-138658532, 138658535-138658539, 138658656 |
449 | DIAPH1 | 5 | 0.99502487562189 | 19 | 3819 | 140953486-140953489, 140953501-140953505, 140953525, 140953531-140953532, 140953564-140953569, 140953757 |
450 | PPP2R2B | 5 | 0.99924924924925 | 1 | 1332 | 146077693 |
451 | SPINK5 | 5 | 0.99908675799087 | 3 | 3285 | 147504348-147504349, 147504353 |
452 | GRM6 | 5 | 0.99506454062263 | 13 | 2634 | 178413984, 178421696-178421697, 178421869, 178421929-178421935, 178421944-178421945 |
453 | SQSTM1 | 5 | 0.99319727891156 | 9 | 1323 | 179247981-179247989 |
454 | FLT4 | 5 | 0.99877810361681 | 5 | 4092 | 180076541-180076545 |
455 | FOXC1 | 6 | 0.97894103489771 | 35 | 1662 | 1611556, 1611562-1611565, 1611568, 1611648-1611655, 1611811-1611813, 1611823, 1611828, 1611919-1611928, 1612018-1612023 |
456 | TUBB2B | 6 | 0.98505231689088 | 20 | 1338 | 3225458-3225462, 3225569-3225583 |
457 | ATXN1 | 6 | 0.97508169934641 | 61 | 2448 | 16327859-16327864, 16327867, 16327873-16327875, 16327878, 16327894, 16327897, 16327900, 16327903, 16327906-16327912, 16327915, 16327918-16327955 |
458 | HLA-H | 6 | 0.98933333333333 | 8 | 750 | 29856421, 29856424-29856427, 29856439, 29856445, 29856643 |
459 | TNXB | 6 | 0.93519958527735 | 125 | 1929 | 31976896-31976929, 31977164-31977170, 31977388-31977394, 31977545-31977551, 31977786-31977792, 31977994-31978002, 31978498-31978517, 31978782-31978815 |
460 | CYP21A2 | 6 | 0.96841397849462 | 47 | 1488 | 32006222, 32006317, 32006337, 32007404-32007410, 32007843-32007850, 32008195-32008201, 32008448-32008455, 32008754-32008760, 32008901-32008907 |
461 | TNXB | 6 | 0.99426506402702 | 73 | 12729 | 32009648-32009664, 32009899-32009905, 32010123-32010129, 32010232-32010244, 32010279-32010289, 32010520-32010526, 32010728-32010736, 32011235, 32011248 |
462 | HLA-DQA1 | 6 | 0.89713541666667 | 79 | 768 | 32605266, 32605271, 32605274, 32609236, 32609949-32609977, 32609999-32610012, 32610433-32610464 |
463 | HLA-DQB1 | 6 | 0.58905852417303 | 323 | 786 | 32628022, 32629124-32629173, 32629224-32629234, 32629761-32629767, 32629799-32629812, 32629844-32629908, 32629932-32629958, 32632684-32632697, 32632721-32632747, 32632778-32632785, 32634279-32634358, 32634366-32634384 |
464 | COL11A2 | 6 | 0.99366724237191 | 33 | 5211 | 33138121-33138126, 33138130-33138138, 33140095, 33140126-33140138, 33140142-33140144, 33140358 |
465 | SYNGAP1 | 6 | 0.92633928571429 | 297 | 4032 | 33388042-33388108, 33393614-33393679, 33411507-33411615, 33411620-33411674 |
466 | MOCS1 | 6 | 0.99686028257457 | 6 | 1911 | 39874704-39874707, 39874711, 39874725 |
467 | RUNX2 | 6 | 0.97126436781609 | 45 | 1566 | 45390442-45390472, 45390484-45390487, 45390490, 45390494-45390496, 45390499-45390504 |
468 | CD2AP | 6 | 0.99479166666667 | 10 | 1920 | 47471063, 47544745-47544751, 47563692, 47563695 |
469 | MUT | 6 | 0.92276964047936 | 174 | 2253 | 49409553-49409658, 49409672-49409684, 49419259, 49421348-49421398, 49421448, 49423906-49423907 |
470 | PKHD1 | 6 | 0.99910020449898 | 11 | 12225 | 51497400, 51611630-51611631, 51611650, 51611659-51611661, 51640638-51640640, 51929829 |
471 | EYS | 6 | 0.98463169051404 | 145 | 9435 | 65098661-65098678, 65098694-65098696, 65098701-65098703, 65098710, 65303154, 65523301-65523305, 65523311-65523365, 65523369-65523378, 65596598, 65596601, 65596686, 66005829-66005860, 66094288-66094292, 66094309-66094313, 66094359-66094360, 66094363, 66094375 |
472 | LMBRD1 | 6 | 0.97535428219347 | 40 | 1623 | 70410685, 70410714-70410750, 70410760-70410761 |
473 | COL9A1 | 6 | 0.99783080260304 | 6 | 2766 | 70972970-70972975 |
474 | RIMS1 | 6 | 0.99153376648947 | 43 | 5079 | 72952101, 72974688, 72974693-72974710, 73108725, 73108766, 73108776-73108796 |
475 | SLC17A5 | 6 | 0.99126344086022 | 13 | 1488 | 74331616, 74331623, 74346344-74346354 |
476 | MYO6 | 6 | 0.99974079834111 | 1 | 3858 | 76595755 |
477 | LCA5 | 6 | 0.98662846227316 | 28 | 2094 | 80196745-80196750, 80196759-80196766, 80196772, 80196775, 80197017-80197028 |
478 | BCKDHB | 6 | 0.91942324003393 | 95 | 1179 | 80880999-80881032, 80881047-80881107 |
479 | RARS2 | 6 | 0.99884858952216 | 2 | 1737 | 88228608, 88265223 |
480 | SIM1 | 6 | 0.99956540634507 | 1 | 2301 | 100838837 |
481 | FIG4 | 6 | 0.99559471365639 | 12 | 2724 | 110086280-110086291 |
482 | COL10A1 | 6 | 0.9995105237396 | 1 | 2043 | 116442257 |
483 | GJA1 | 6 | 0.99912967798085 | 1 | 1149 | 121768546 |
484 | LAMA2 | 6 | 0.99722311225035 | 26 | 9363 | 129513906-129513907, 129635935, 129670459-129670466, 129670511, 129670515-129670520, 129670524, 129714206-129714208, 129714215-129714218 |
485 | ARG1 | 6 | 0.99174406604747 | 8 | 969 | 131900412-131900419 |
486 | ENPP1 | 6 | 0.99712023038157 | 8 | 2778 | 132171184, 132171187-132171190, 132176098, 132203557, 132203560 |
487 | EYA4 | 6 | 0.99479166666667 | 10 | 1920 | 133769268-133769276, 133783580 |
488 | PEX7 | 6 | 0.93724279835391 | 61 | 972 | 137167228-137167270, 137167281-137167285, 137167294, 137167308-137167319 |
489 | PEX3 | 6 | 0.99554367201426 | 5 | 1122 | 143789300-143789302, 143792544, 143792560 |
490 | IYD | 6 | 0.99195402298851 | 7 | 870 | 150713496-150713502 |
491 | SYNE1 | 6 | 0.9985223914526 | 39 | 26394 | 152545697-152545699, 152545702-152545710, 152545719-152545724, 152545728, 152545783, 152545788, 152697936-152697947, 152716685-152716689, 152725447 |
492 | PARK2 | 6 | 0.97567954220315 | 34 | 1398 | 161969940-161969973 |
493 | TBP | 6 | 0.89411764705882 | 108 | 1020 | 170871010-170871109, 170871129-170871136 |
494 | LFNG | 7 | 0.82982456140351 | 194 | 1140 | 2559496-2559500, 2559513-2559536, 2559540, 2559544-2559549, 2559572-2559622, 2559628-2559630, 2559640-2559647, 2559656-2559678, 2559694, 2559699-2559707, 2559723-2559725, 2559743, 2559746-2559750, 2559754-2559767, 2559773-2559776, 2559791, 2559811-2559813, 2559822-2559848, 2559872-2559875, 2559880 |
495 | PMS2 | 7 | 0.95558130552337 | 115 | 2589 | 6013030-6013052, 6013150-6013156, 6017321-6017327, 6026633-6026639, 6026704-6026710, 6026956-6026962, 6026999-6027039, 6029447-6029448, 6029454, 6043644, 6043658-6043661, 6045623-6045630 |
496 | TWIST1 | 7 | 0.72906403940887 | 165 | 609 | 19156780-19156944 |
497 | DNAH11 | 7 | 0.99417919245505 | 79 | 13572 | 21630536-21630580, 21630591-21630593, 21630614, 21630620, 21630636-21630640, 21659583-21659598, 21894010, 21894016, 21894023-21894027, 21894049 |
498 | HOXA1 | 7 | 0.99702380952381 | 3 | 1008 | 27135317-27135319 |
499 | HOXA13 | 7 | 0.80034275921165 | 233 | 1167 | 27239299-27239301, 27239306, 27239309-27239326, 27239332-27239334, 27239337-27239342, 27239349, 27239351, 27239371-27239485, 27239496-27239511, 27239522-27239590 |
500 | GARS | 7 | 0.9972972972973 | 6 | 2220 | 30634583-30634585, 30634677-30634679 |
501 | RP9 | 7 | 0.9984984984985 | 1 | 666 | 33134883 |
502 | BBS9 | 7 | 0.97334834834835 | 71 | 2664 | 33303902, 33303905-33303945, 33303954-33303961, 33303970-33303986, 33313462-33313465 |
503 | CCM2 | 7 | 0.97752808988764 | 30 | 1335 | 45039933-45039962 |
504 | ASL | 7 | 0.99928315412186 | 1 | 1395 | 65554162 |
505 | KCTD7 | 7 | 0.99195402298851 | 7 | 870 | 66094153-66094154, 66094160-66094163, 66094182 |
506 | SBDS | 7 | 0.99203187250996 | 6 | 753 | 66453460, 66460277-66460281 |
507 | NCF1 | 7 | 0.91757575757576 | 68 | 825 | 72637917, 72639957-72639989, 72640033-72640039, 72643704-72643723, 72644230-72644236 |
508 | ELN | 7 | 0.99402298850575 | 13 | 2175 | 73442536-73442548 |
509 | NCF1 | 7 | 0.9923273657289 | 9 | 1173 | 74193642, 74193668, 74197911-74197917 |
510 | CD36 | 7 | 0.99436222692037 | 8 | 1419 | 80302132-80302139 |
511 | AKAP9 | 7 | 0.99513817809621 | 57 | 11724 | 91609603-91609621, 91609632, 91609639-91609640, 91609643-91609647, 91630267-91630268, 91631401-91631414, 91671399-91671407, 91674381, 91674442, 91674502, 91695765-91695766 |
512 | KRIT1 | 7 | 0.98643147896879 | 30 | 2211 | 91867039-91867064, 91867070-91867073 |
513 | PEX1 | 7 | 0.99636552440291 | 14 | 3852 | 92122267-92122270, 92140303-92140312 |
514 | COL1A2 | 7 | 0.99512314069739 | 20 | 4101 | 94027694-94027702, 94030918-94030926, 94030929, 94055310 |
515 | SGCE | 7 | 0.98746312684366 | 17 | 1356 | 94248070, 94248258-94248264, 94252654, 94259047, 94259055, 94259059-94259063, 94259066 |
516 | SLC26A5 | 7 | 0.99418344519016 | 13 | 2235 | 103017284-103017289, 103017298-103017304 |
517 | SLC26A4 | 7 | 0.99231754161332 | 18 | 2343 | 107340592-107340609 |
518 | SLC26A3 | 7 | 0.99956427015251 | 1 | 2295 | 107432281 |
519 | IFRD1 | 7 | 0.98377581120944 | 22 | 1356 | 112102123-112102144 |
520 | CFTR | 7 | 0.9552104433941 | 199 | 4443 | 117188713-117188753, 117188760-117188800, 117188838-117188853, 117234985-117235051, 117235055, 117235058, 117235081-117235112 |
521 | AASS | 7 | 0.99568500539374 | 12 | 2781 | 121758507, 121769552, 121769575-121769582, 121769585, 121769591 |
522 | IMPDH1 | 7 | 0.99888888888889 | 2 | 1800 | 128045857, 128049859 |
523 | ATP6V0A4 | 7 | 0.96591359492667 | 86 | 2523 | 138394370-138394411, 138394420-138394463 |
524 | BRAF | 7 | 0.99043893959148 | 22 | 2301 | 140434566-140434570, 140453113-140453114, 140477825, 140481400-140481411, 140549911-140549912 |
525 | PRSS1 | 7 | 0.94623655913978 | 40 | 744 | 142459676-142459682, 142460335, 142460366-142460397 |
526 | CLCN1 | 7 | 0.99292214357937 | 21 | 2967 | 143047472-143047492 |
527 | CNTNAP2 | 7 | 0.996996996997 | 12 | 3996 | 145813983-145813988, 145813994-145813997, 147092871-147092872 |
528 | KCNH2 | 7 | 0.96580459770115 | 119 | 3480 | 150644694-150644696, 150644705-150644709, 150644731-150644741, 150644744-150644754, 150644758, 150644768, 150644780-150644781, 150644793, 150671858-150671864, 150671883-150671890, 150671942-150671987, 150674972-150674994 |
529 | SHH | 7 | 0.99640028797696 | 5 | 1389 | 155595715-155595718, 155595807 |
530 | MNX1 | 7 | 0.84577114427861 | 186 | 1206 | 156799286-156799289, 156799295, 156802654-156802802, 156802858, 156802862, 156802869, 156802890-156802909, 156802914-156802922 |
531 | GATA4 | 8 | 0.99924755455229 | 1 | 1329 | 11566196 |
532 | TUSC3 | 8 | 0.99713467048711 | 3 | 1047 | 15480678-15480680 |
533 | SFTPC | 8 | 0.99326599326599 | 4 | 594 | 22021056-22021059 |
534 | ANK1 | 8 | 0.99929750614682 | 4 | 5694 | 41552271-41552274 |
535 | HGSNAT | 8 | 0.99109014675052 | 17 | 1908 | 42995670-42995678, 42995688-42995694, 42995700 |
536 | CHD7 | 8 | 0.99844340671559 | 14 | 8994 | 61749379-61749384, 61749450, 61766037-61766043 |
537 | TTPA | 8 | 0.99641577060932 | 3 | 837 | 63998492-63998494 |
538 | EYA1 | 8 | 0.99775154581225 | 4 | 1779 | 72246371, 72246380-72246382 |
539 | CNGB3 | 8 | 0.99917695473251 | 2 | 2430 | 87656904, 87656913 |
540 | NBN | 8 | 0.99955849889625 | 1 | 2265 | 90960112 |
541 | TMEM67 | 8 | 0.98694779116466 | 39 | 2988 | 94777646, 94777660-94777679, 94777689-94777693, 94777829-94777831, 94809368, 94822013-94822020, 94828601 |
542 | VPS13B | 8 | 0.98716024679006 | 154 | 11994 | 100050691-100050695, 100050705-100050708, 100123372-100123375, 100123403-100123406, 100123410-100123418, 100123429-100123441, 100123447-100123456, 100123462, 100123465-100123471, 100123483-100123484, 100146881-100146887, 100146911, 100146948-100146949, 100513950-100513993, 100514000-100514006, 100514031-100514056, 100514061-100514066, 100514070, 100883853 |
543 | GRHL2 | 8 | 0.99787007454739 | 4 | 1878 | 102631828-102631831 |
544 | KIAA0196 | 8 | 0.99712643678161 | 10 | 3480 | 126095355-126095364 |
545 | KCNQ3 | 8 | 0.9831996945399 | 44 | 2619 | 133492536-133492545, 133492647, 133492747-133492779 |
546 | TG | 8 | 0.99987961959793 | 1 | 8307 | 133882071 |
547 | CYP11B1 | 8 | 0.95238095238095 | 72 | 1512 | 143956453-143956459, 143956703-143956709, 143957128-143957154, 143958572-143958602 |
548 | CYP11B2 | 8 | 0.94708994708995 | 80 | 1512 | 143993947-143993994, 143994069-143994080, 143994263-143994282 |
549 | PLEC | 8 | 0.9980078263963 | 28 | 14055 | 144993737, 144995065-144995068, 144996241-144996253, 144996260, 144996534-144996539, 144997133-144997134, 144998917 |
550 | GPT | 8 | 0.99128101945003 | 13 | 1491 | 145730792, 145731286, 145731924-145731927, 145732017-145732022, 145732032 |
551 | RECQL4 | 8 | 0.99807003032809 | 7 | 3627 | 145738996-145739002 |
552 | DOCK8 | 9 | 0.99952380952381 | 3 | 6300 | 332451, 452026, 452072 |
553 | GLIS3 | 9 | 0.99713569638382 | 8 | 2793 | 4117854-4117861 |
554 | JAK2 | 9 | 0.97087378640777 | 99 | 3399 | 5077453-5077549, 5090448, 5090484 |
555 | FANCG | 9 | 0.99732477260567 | 5 | 1869 | 35079180-35079184 |
556 | GNE | 9 | 0.99557913351017 | 10 | 2262 | 36217445-36217448, 36217451-36217456 |
557 | FXN | 9 | 0.99842022116904 | 1 | 633 | 71668062 |
558 | VPS13A | 9 | 0.96283464566929 | 354 | 9525 | 79820974-79820995, 79824355, 79824380-79824384, 79824411-79824415, 79840865-79840866, 79840869, 79840876-79840879, 79843044, 79843055-79843060, 79843124, 79891065-79891068, 79891072, 79891105, 79896784-79896785, 79896796-79896804, 79896811-79896829, 79896838-79896842, 79897078-79897101, 79908382, 79908405-79908424, 79910657-79910669, 79928912-79928917, 79928921, 79928928-79928932, 79931101, 79931125, 79931183, 79932528-79932614, 79938087-79938093, 79938100, 79938103-79938113, 79938120-79938121, 79946960, 79952301, 79952307, 79952310-79952314, 79954727-79954734, 79955132-79955133, 79955184, 79974249-79974251, 79996892-79996898, 79996906-79996907, 79996923-79996944, 79996953-79996983 |
559 | FOXE1 | 9 | 0.99108734402852 | 10 | 1122 | 100616698, 100616701-100616709 |
560 | TGFBR1 | 9 | 0.98611111111111 | 21 | 1512 | 101867538-101867546, 101867548-101867556, 101867561, 101867583, 101900147 |
561 | DFNB31 | 9 | 0.99192364170338 | 22 | 2724 | 117266935, 117266945, 117266995-117267014 |
562 | ENG | 9 | 0.99797673242286 | 4 | 1977 | 130588020-130588023 |
563 | DOLK | 9 | 0.995670995671 | 7 | 1617 | 131709025-131709031 |
564 | SETX | 9 | 0.99975105800349 | 2 | 8034 | 135139874, 135158675 |
565 | CEL | 9 | 0.85072655217966 | 339 | 2271 | 135944521-135944527, 135944583-135944589, 135945985-135946018, 135946387-135946393, 135946654-135946895, 135946911-135946924, 135946928-135946946, 135946952-135946958, 135946962-135946963 |
566 | SURF1 | 9 | 0.95902547065338 | 37 | 903 | 136223293-136223329 |
567 | ADAMTS13 | 9 | 0.98576097105509 | 61 | 4284 | 136293786-136293787, 136293796-136293800, 136293816, 136293820-136293829, 136293836-136293838, 136293855-136293891, 136308657-136308659 |
568 | COL5A1 | 9 | 0.99311219865869 | 38 | 5517 | 137534095-137534132 |
569 | LHX3 | 9 | 0.95781637717122 | 51 | 1209 | 139090809, 139090845-139090852, 139090864-139090905 |
570 | INPP5E | 9 | 0.9922480620155 | 15 | 1935 | 139333150, 139333157, 139333322, 139333328-139333339 |
571 | NOTCH1 | 9 | 0.99752217005738 | 19 | 7668 | 139390950-139390953, 139390960-139390961, 139390964, 139391547-139391558 |
572 | AGPAT2 | 9 | 0.99522102747909 | 4 | 837 | 139581775, 139581778, 139581808-139581809 |
573 | SLC34A3 | 9 | 0.96888888888889 | 56 | 1800 | 140128333-140128360, 140128364-140128376, 140128614-140128627, 140130747 |
574 | EHMT1 | 9 | 0.99948678470618 | 2 | 3897 | 140637823-140637824 |
575 | SHOX | X | 0.98634812286689 | 12 | 879 | 595494-595505 |
576 | KAL1 | X | 0.9985315712188 | 3 | 2043 | 8700008-8700010 |
577 | GPR143 | X | 0.99921568627451 | 1 | 1275 | 9733695 |
578 | OFD1 | X | 0.99572227706482 | 13 | 3039 | 13764528-13764540 |
579 | FANCB | X | 0.96705426356589 | 85 | 2580 | 14861689-14861698, 14871230, 14877310-14877343, 14877362-14877399, 14877444, 14877453 |
580 | PHKA2 | X | 0.99892125134844 | 4 | 3708 | 18917314-18917317 |
581 | RPS6KA3 | X | 0.99955015744489 | 1 | 2223 | 20213186 |
582 | SMS | X | 0.99091734786558 | 10 | 1101 | 21958964-21958965, 21958971, 21958985-21958991 |
583 | ARX | X | 0.95855535820012 | 70 | 1689 | 25031382-25031385, 25031468, 25031564, 25031643-25031686, 25031706-25031714, 25031790-25031797, 25031805-25031807 |
584 | GK | X | 0.99638989169675 | 6 | 1662 | 30726246-30726251 |
585 | DMD | X | 0.99837221920781 | 18 | 11058 | 32361301-32361302, 32366644-32366645, 32398699, 32398703, 32407782-32407791, 32490288, 32490418 |
586 | RPGR | X | 0.89881468632553 | 350 | 3459 | 38145171, 38145178, 38145192, 38145327-38145353, 38145376-38145679, 38163969-38163975, 38170002-38170010 |
587 | NYX | X | 0.99377593360996 | 9 | 1446 | 41333154, 41333235-41333238, 41333242, 41333279, 41333523, 41333527 |
588 | SYN1 | X | 0.99905571293673 | 2 | 2118 | 47436855-47436856 |
589 | WAS | X | 0.99602385685885 | 6 | 1509 | 48547236, 48547306-48547310 |
590 | KDM5C | X | 0.99829169335896 | 8 | 4683 | 53224193-53224200 |
591 | ARHGEF9 | X | 0.9993552546744 | 1 | 1551 | 62898402 |
592 | AR | X | 0.96380745566413 | 100 | 2763 | 66765156-66765208, 66766357-66766395, 66766397-66766404 |
593 | MED12 | X | 0.9897459442914 | 67 | 6534 | 70338605-70338616, 70338635-70338657, 70338683-70338703, 70349615-70349622, 70354949, 70360660, 70361115 |
594 | TAF1 | X | 0.98187258007744 | 103 | 5682 | 70586165-70586256, 70586260-70586269, 70586284 |
595 | SLC16A2 | X | 0.99891422366992 | 2 | 1842 | 73641386-73641387 |
596 | ABCB7 | X | 0.99911582670203 | 2 | 2262 | 74291514, 74318819 |
597 | ATRX | X | 0.99478539911753 | 39 | 7479 | 76764063, 76814242, 76814246, 76874443, 76875902, 76875981-76875986, 76875990, 76912100-76912119, 76912137-76912143 |
598 | ATP7A | X | 0.99888962913613 | 5 | 4503 | 77276538-77276542 |
599 | BRWD3 | X | 0.98040303198373 | 106 | 5409 | 79960223, 79960298, 79960301-79960302, 79965001, 79965028-79965031, 79965042-79965043, 79965050, 79965056, 79991500, 79991517-79991527, 79991530-79991535, 79991538-79991541, 79991543-79991554, 79991560-79991587, 80064940-80064970 |
600 | ZNF711 | X | 0.99781277340332 | 5 | 2286 | 84520251, 84520254-84520257 |
601 | CHM | X | 0.99949031600408 | 1 | 1962 | 85282538 |
602 | TIMM8A | X | 0.99319727891156 | 2 | 294 | 100601487-100601488 |
603 | COL4A5 | X | 0.9988137603796 | 6 | 5058 | 107834419-107834424 |
604 | LAMP2 | X | 0.99029126213592 | 12 | 1236 | 119590517-119590527, 119590533 |
605 | CUL4B | X | 0.99781181619256 | 6 | 2742 | 119694124-119694129 |
606 | XIAP | X | 0.99933065595716 | 1 | 1494 | 123025099 |
607 | FRMD7 | X | 0.99440559440559 | 12 | 2145 | 131211948-131211955, 131211966-131211969 |
608 | SLC9A6 | X | 0.97530864197531 | 52 | 2106 | 135080284-135080296, 135104746-135104748, 135104776-135104802, 135104835-135104838, 135104843, 135104848-135104851 |
609 | ZIC3 | X | 0.99358974358974 | 9 | 1404 | 136648985-136648987, 136651113, 136651133, 136651138-136651140, 136651164 |
610 | SOX3 | X | 0.95898583146905 | 55 | 1341 | 139585940, 139585989-139585997, 139586151-139586164, 139586174-139586182, 139586338, 139586492-139586499, 139586503, 139586508-139586511, 139586514-139586519, 139587215-139587216 |
611 | AFF2 | X | 0.9994918699187 | 2 | 3936 | 147744250-147744251 |
612 | SLC6A8 | X | 0.89675052410901 | 197 | 1908 | 152954030, 152954073-152954249, 152958529-152958546, 152960082 |
613 | ABCD1 | X | 0.91957104557641 | 180 | 2238 | 152990968-152990970, 152991223, 153008473-153008486, 153008675-153008678, 153008705-153008734, 153008785-153008791, 153008943-153008949, 153008981-153008987, 153009014-153009047, 153009059-153009089, 153009114-153009155 |
614 | MECP2 | X | 0.95858383433534 | 62 | 1497 | 153363061-153363122 |
615 | OPN1LW | X | 0.95799086757991 | 46 | 1095 | 153418453-153418471, 153420176, 153421800-153421824, 153421950 |
616 | OPN1MW | X | 0.96712328767123 | 36 | 1095 | 153455583-153455601, 153458939-153458954, 153459003 |
617 | OPN1MW | X | 0.95251141552511 | 52 | 1095 | 153492701-153492719, 153496057-153496089 |
618 | IKBKG | X | 0.98428961748634 | 23 | 1464 | 153784526-153784532, 153792557-153792572 |
619 | IKBKG | X | 0.96728016359918 | 16 | 489 | 153868355-153868370 |
Effect rank | Variant | Phase/ Zygosity | Allele freq | Impact | Evaluation | Summary / Info |
---|---|---|---|---|---|---|
5 | RNASEH2B-I309Shift | homozygous | 0.023 | Recessive pathogenic | High clinical importance, uncertain | Variants in this protein are implicated in causing Aicardi-Goutieres syndrome in a recessive manner, a rare congenital disease in infants that is usually fatal in the first few years. All families with this gene implicated as causal have disruptive substitutions upstream of this location, so it is unclear whether this downstream frameshift mutation would the same pathogenic effect. |
5 | COL9A3-G17E | het unknown | Unknown | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview | |
5 | COL9A3-R103W | het unknown | 0.016 | Dominant pathogenic | Moderate clinical importance, likely | Carriers of this collagen variant are associated with having a significantly increased risk of lumbar disc disease (~11% total risk compared to a typical risk of 4%). |
5 | COL9A3-A435E | het unknown | 0.218 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.568 (possibly damaging), Testable gene in GeneTests with associated GeneReview |
5 | PRODH-R521Q | homozygous | 0.887 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: Unknown, Testable gene in GeneTests |
5 | PRODH-R431H | homozygous | 0.035 | Recessive pathogenic | Insufficiently evaluated | Prioritization score: 4 Polyphen 2: Unknown, Testable gene in GeneTests |
5 | PRODH-W185R | homozygous | 0.826 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: Unknown, Testable gene in GeneTests |
5 | PRODH-P30S | het unknown | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests | |
4 | WFS1-V333I | het unknown | 0.889 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
4 | WFS1-C426Y | het unknown | 0.008 | Dominant pathogenic | Moderate clinical importance, uncertain | Reported in a single case of familial depression, but no linkage data and no statistical significance. |
3 | CASP10-S239C | het unknown | Unknown | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview | |
3 | CASP10-V410I | het unknown | 0.031 | Dominant protective | Low clinical importance, likely | Reported to have a protective effect on breast cancer. If the lifetime risk of breast cancer is 12%, women with this variant may have a lower risk of 8-9% (30% less than average). |
3 | CASP10-L522I | het unknown | 0.309 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
2.5 | COL4A1-Q1334H | het unknown | 0.292 | Dominant pathogenic | Low clinical importance, likely | This common variant has been associated with arterial stiffness and, in Japanese, a small increased risk of myocardial infarction (MI, a.k.a. heart attack). This last observation supported a dominant effect for this variant and, assuming a lifetime risk of 15% for MI, we estimate carriers have an additional risk of 0.5-3%. |
2.5 | COL4A1-T555P | homozygous | 0.994 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
2.5 | COL4A1-P54L | het unknown | Unknown | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview | |
2.5 | ABCG8-D19H | het unknown | 0.043 | Complex/Other pathogenic | Insufficiently evaluated | Prioritization score: 4 Polyphen 2: Unknown, Testable gene in GeneTests |
2.5 | ABCG8-T400K | het unknown | 0.225 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: 0.157 (benign), Testable gene in GeneTests |
2.5 | ABCG8-V632A | homozygous | 0.908 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: Unknown, Testable gene in GeneTests |
2.5 | SP110-M523T | het unknown | 0.319 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
2.5 | SP110-L425S | homozygous | 0.875 | Unknown pathogenic | Low clinical importance, uncertain | This variant is associated with a slightly increased risk of tuberculosis. It is unclear whether it is itself causal, or in linkage disequilibrium with some other causal variant that has a stronger effect. |
2.5 | SP110-G299R | het unknown | 0.822 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
2.5 | SP110-E207K | het unknown | 0.087 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
2.5 | SP110-A128V | het unknown | 0.078 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
2.5 | SP110-W112R | homozygous | 0.945 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
2.5 | ANGPTL4-E40K | het unknown | 0.008 | Unknown pathogenic | Insufficiently evaluated | Prioritization score: 4 Polyphen 2: 0.98 (probably damaging) |
2.5 | ANGPTL4-T266M | het unknown | 0.242 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: 0.006 (benign) |
2 | SPG7-T503A | homozygous | 0.095 | Unknown pharmacogenetic | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: 0.001 (benign), Testable gene in GeneTests with associated GeneReview |
2 | SPG7-R688Q | homozygous | 0.072 | Unknown pharmacogenetic | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: 0.203 (possibly damaging), Testable gene in GeneTests with associated GeneReview |
2 | CST3-A25T | het unknown | Unknown pathogenic | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: Unknown | |
2 | NEFL-S472Shift | homozygous | Unknown | Insufficiently evaluated | Prioritization score: 4 Frameshift, Testable gene in GeneTests with associated GeneReview | |
2 | MSH6-G39E | homozygous | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 4 Polyphen 2: 0.873 (probably damaging), Testable gene in GeneTests with associated GeneReview | |
2 | MSH6-S503C | het unknown | Unknown | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview | |
2 | SNCAIP-R621C | het unknown | Unknown pathogenic | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: Unknown | |
2 | BARD1-C557S | het unknown | 0.016 | Unknown pathogenic | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: 0.464 (possibly damaging) |
2 | BARD1-V507M | homozygous | 0.347 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: 0.032 (benign) |
2 | BARD1-R378S | homozygous | 0.416 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: 0.002 (benign) |
2 | BARD1-P24S | het unknown | 0.302 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: 0.027 (benign) |
1.75 | MEFV-I591T | het unknown | Unknown | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview | |
1.75 | MEFV-R202Q | het unknown | 0.111 | Recessive pathogenic | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.019 (benign), Testable gene in GeneTests with associated GeneReview |
1.75 | MEFV-E148Q | het unknown | 0.088 | Recessive pathogenic | Insufficiently evaluated | Prioritization score: 5 Polyphen 2: 0.852 (probably damaging), Testable gene in GeneTests with associated GeneReview |
1.5 | KCNJ11-V337I | homozygous | 0.761 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
1.5 | KCNJ11-K23E | homozygous | 0.711 | Unknown protective | Low clinical importance, likely | This variant is associated with decreased risk of type 2 diabetes. It is unclear whether this variant has additive effects, or acts in a dominant or recessive manner. Assuming diabetes has a lifetime risk of 36%, we estimate a decreased risk of around 1-2% per copy of this variant. |
1.5 | LOXL1-R141L | het unknown | Unknown pharmacogenetic | Insufficiently evaluated | Prioritization score: 4 Polyphen 2: 0.998 (probably damaging) | |
1.5 | ABCG5-R50C | het unknown | 0.070 | Unknown protective | Low clinical importance, likely | This variant has a mild protective effect on blood cholesterol. It is associated with slightly lower total and LDL cholesterol levels. |
1.25 | TP53-P72R | het unknown | 0.550 | Unknown pathogenic | Low clinical importance, uncertain | This is a common variant was first reported as a polymorphism. It has since had mixed associations with cancer: Storey et al. conclude a 7x *increased* risk of HPV cancer for homozygotes vs hets, but Jones et al. find a 1.98x *decreased* risk for colorectal cancer. This variant may have significant impact on particular cancers, but it is unclear what effect it has on the overall burden of cancer. |
1.25 | ABCA4-R943Q | het unknown | 0.039 | Unknown benign | Low clinical importance, uncertain | This is a polymorphism in a gene associated with Stargardt disease. Although it has a slight detectable effect in functional study, it is common in control groups and is not believed to have any significant pathogenic effect. |
1.25 | ABCA4-G863A | het unknown | 0.018 | Recessive pathogenic | Insufficiently evaluated | Prioritization score: 5 Polyphen 2: 0.991 (probably damaging), Testable gene in GeneTests |
1.125 | CFTR-V470M | het unknown | 0.621 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
1.125 | CFTR-S1235R | het unknown | 0.008 | Recessive pathogenic | Moderate clinical importance, uncertain | Reported to cause mild dysfunction of the cystic fibrosis gene, it may result in cystic fibrosis when combined with more severe variants. |
1 | AX746964-G175Shift | homozygous | 0.034 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Frameshift |
1 | AX746964-K166I | homozygous | 0.628 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
1 | CPS1-E114Shift | het unknown | Unknown | Insufficiently evaluated | Prioritization score: 4 Frameshift, Testable gene in GeneTests with associated GeneReview | |
1 | CPS1-G116Shift | het unknown | Unknown | Insufficiently evaluated | Prioritization score: 4 Frameshift, Testable gene in GeneTests with associated GeneReview | |
1 | CPS1-T344A | het unknown | 0.583 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.302 (possibly damaging), Testable gene in GeneTests with associated GeneReview |
1 | PLEKHA2-P389Shift | homozygous | 0.032 | Unknown not reviewed | 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 | VDR-M1T | homozygous | 0.687 | Unknown pharmacogenetic | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: 0.999 (probably damaging), Testable gene in GeneTests |
1 | AKAP9-M463I | homozygous | 0.376 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: Unknown, Testable gene in GeneTests |
1 | AKAP9-K1335KQ | homozygous | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests | |
1 | AKAP9-N2792S | homozygous | 0.271 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: Unknown, Testable gene in GeneTests |
1 | AKAP9-P2979S | homozygous | 0.997 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: Unknown, Testable gene in GeneTests |
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 | TGIF1-P83Shift | het unknown | 0.139 | Complex/Other pathogenic | Low clinical importance, uncertain | Severe variants in this gene are associated with holoprosencephaly disorders when combined with loss-of-function variants in SHH. Haploinsufficiency was identified in some families with this condition. It is unclear how likely this variant is to occur in combination with an SHH variant, or what phenotypic effect the variant would have on its own. |
1 | TGIF1-P292S | het unknown | 0.023 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
1 | INSR-A2G | homozygous | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests | |
1 | KCP-G1196S | het unknown | Unknown | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: Unknown | |
1 | KCP-H313Shift | homozygous | Unknown | Insufficiently evaluated | Prioritization score: 2 Frameshift | |
1 | KCP-A16Shift | homozygous | Unknown | Insufficiently evaluated | Prioritization score: 2 Frameshift | |
1 | NEB-I6534V | homozygous | 0.372 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
1 | NEB-A6277P | homozygous | 0.691 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
1 | NEB-R4389T | homozygous | 0.724 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
1 | NEB-W3348C | homozygous | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview | |
1 | NEB-K2613N | homozygous | 0.138 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
1 | NEB-V1491M | homozygous | 0.453 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
1 | NEB-Y1301H | homozygous | 0.668 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
1 | NEB-K1027N | homozygous | 0.476 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
1 | HSH2D-S223Shift | homozygous | 0.016 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Frameshift |
1 | C19orf55-G398Shift | homozygous | Unknown | Insufficiently evaluated | Prioritization score: 2 Frameshift | |
1 | CTDP1-S61A | homozygous | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: Unknown, 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-R460Q | het unknown | 0.206 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: 0.999 (probably damaging) |
1 | CCDC66-S606SS | het unknown | Unknown | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: Unknown | |
1 | C2orf83-W141* | homozygous | Unknown | Insufficiently evaluated | Prioritization score: 2 Nonsense mutation | |
1 | C2orf83-E104Q | homozygous | Unknown | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: Unknown | |
1 | AX746903-T82Shift | homozygous | Unknown | Insufficiently evaluated | Prioritization score: 2 Frameshift | |
1 | ADH1B-I65T | het unknown | Unknown | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: Unknown | |
1 | ADH1B-H48R | homozygous | 0.678 | Unknown pharmacogenetic | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown |
1 | ZFPM1-K431N | het unknown | 0.096 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
1 | ZFPM1-E444Shift | homozygous | Unknown | Insufficiently evaluated | Prioritization score: 2 Frameshift | |
1 | ZFPM1-L446Shift | homozygous | Unknown | Insufficiently evaluated | Prioritization score: 2 Frameshift | |
1 | C14orf104-E62D | homozygous | Unknown | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview | |
1 | GSPT1-V100A | homozygous | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: Unknown | |
1 | GSPT1-G92C | homozygous | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.999 (probably damaging) | |
1 | ZNF598-M637T | het unknown | 0.601 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
1 | ZNF598-E25G | homozygous | Unknown | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: Unknown | |
1 | ZNF598-E17A | homozygous | Unknown | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: Unknown | |
1 | ZNF598-DM13AL | homozygous | Unknown | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: Unknown | |
1 | ZNF598-G6Shift | homozygous | Unknown | Insufficiently evaluated | Prioritization score: 2 Frameshift | |
1 | ADAMTSL3-H146R | het unknown | 0.706 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: 0.04 (benign) |
1 | ADAMTSL3-L290V | homozygous | 0.833 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
1 | ADAMTSL3-V661L | homozygous | 0.711 | Unknown pharmacogenetic | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown |
1 | ADAMTSL3-T1660I | het unknown | 0.106 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: 0.001 (benign) |
1 | NPRL3-L489Shift | homozygous | 0.048 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Frameshift |
1 | NR_027242-C222Shift | homozygous | Unknown | Insufficiently evaluated | Prioritization score: 2 Frameshift | |
1 | NR_027242-Q97Shift | homozygous | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Frameshift | |
1 | NR_027242-L22P | homozygous | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: Unknown | |
1 | 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 | ENO3-N71S | homozygous | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests | |
1 | ENO3-V85A | homozygous | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests | |
1 | HABP2-T50M | homozygous | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests | |
1 | BCKDHA-P39H | homozygous | 0.024 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
1 | IL13-Q144R | homozygous | 0.766 | Unknown pharmacogenetic | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown |
1 | AP1S2-T35A | homozygous | Unknown | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests | |
1 | AP1S2-R29P | homozygous | Unknown | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests | |
1 | ZNF167-N494Shift | homozygous | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Frameshift | |
1 | AHI1-R830W | het unknown | 0.008 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 4 Polyphen 2: 0.999 (probably damaging), Testable gene in GeneTests with associated GeneReview |
1 | CPN2-Q509W | homozygous | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests | |
1 | PIK3R6-L609Shift | homozygous | Unknown | Insufficiently evaluated | Prioritization score: 2 Frameshift | |
1 | SEBOX-L207S | homozygous | 0.913 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
1 | SEBOX-W10Shift | homozygous | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Frameshift | |
1 | BLMH-I443V | het unknown | 0.241 | Unknown pathogenic | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown |
1 | AIM1-C491R | het unknown | 0.181 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: 0.091 (benign) |
1 | AIM1-E1196A | homozygous | 0.935 | Unknown pharmacogenetic | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.015 (benign) |
1 | TTN-F33256Shift | het unknown | Unknown | Insufficiently evaluated | Prioritization score: 4 Frameshift, Testable gene in GeneTests with associated GeneReview | |
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-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-I23649T | het unknown | Unknown not reviewed | 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-E15696Q | het unknown | Unknown | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview | |
1 | TTN-E9928EE | het unknown | Unknown | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview | |
1 | TTN-R9852H | het unknown | 0.198 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
1 | TTN-G9378R | het unknown | 0.395 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
1 | TTN-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 | F5-M1764V | het unknown | 0.273 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
1 | F5-K925E | het unknown | 0.196 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
1 | F5-H865R | het unknown | 0.238 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
1 | F5-K858R | het unknown | 0.239 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
1 | F5-Q534R | homozygous | 0.991 | Unknown pharmacogenetic | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
1 | 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 | SCARF2-P747Shift | homozygous | Unknown | Insufficiently evaluated | Prioritization score: 2 Frameshift | |
1 | SCARF2-A745Shift | homozygous | Unknown | Insufficiently evaluated | Prioritization score: 2 Frameshift | |
1 | NR_027052-R29H | homozygous | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: Unknown | |
1 | NR_027052-T53Shift | homozygous | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Frameshift | |
1 | HRNR-H2772R | het unknown | 0.516 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
1 | HRNR-L2688S | homozygous | 0.939 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
1 | HRNR-S799T | het unknown | 0.569 | 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-Q519P | het unknown | 0.067 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
1 | HRNR-Y517C | het unknown | 0.185 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
1 | HRNR-G492R | het unknown | 0.588 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
1 | HRNR-E473G | homozygous | 0.951 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
1 | HRNR-Q376R | homozygous | 1.000 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
1 | HRNR-R85H | het unknown | 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 | COL18A1-A288T | het unknown | 0.177 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: 0.017 (benign), Testable gene in GeneTests |
1 | COL18A1-T379M | het unknown | 0.325 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.969 (probably damaging), Testable gene in GeneTests |
1 | COL18A1-PGP1362Del | homozygous | Unknown | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests | |
1 | KRTAP7-1-Y17Shift | homozygous | Unknown | Insufficiently evaluated | Prioritization score: 2 Frameshift | |
1 | IL6R-D358A | homozygous | 0.266 | Unknown pharmacogenetic | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: 0.911 (probably damaging) |
1 | B3GNT6-L316Shift | homozygous | Unknown | Insufficiently evaluated | Prioritization score: 2 Frameshift | |
1 | B3GNT6-L335Shift | homozygous | Unknown | Insufficiently evaluated | Prioritization score: 2 Frameshift | |
1 | PTPN22-W620R | homozygous | 0.970 | Unknown pharmacogenetic | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown |
1 | ARHGEF19-P460L | homozygous | 0.023 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.998 (probably damaging) |
1 | FAM58A-Q15Shift | homozygous | Unknown | Insufficiently evaluated | Prioritization score: 3 Frameshift, Testable gene in GeneTests | |
1 | FAM58A-G4Shift | homozygous | Unknown | Insufficiently evaluated | Prioritization score: 3 Frameshift, Testable gene in GeneTests | |
1 | H2BFM-Q73* | homozygous | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Nonsense mutation | |
1 | PADI6-V343Shift | homozygous | 0.016 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Frameshift |
1 | GSTM1-K173N | homozygous | 1.000 | Unknown pharmacogenetic | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests |
1 | DGKK-L1014Shift | homozygous | Unknown | Insufficiently evaluated | Prioritization score: 2 Frameshift | |
1 | DGKK-D719N | het unknown | Unknown | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: Unknown | |
1 | TOR1A-D216H | het unknown | 0.089 | Unknown protective | Low clinical importance, likely | This SNP has been shown to be benign and play a protective role against Dystonia. |
1 | CHIT1-A442G | het unknown | 0.092 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: Unknown, Testable gene in GeneTests |
1 | CHIT1-G102S | het unknown | 0.268 | Unknown pathogenic | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: 0.057 (benign), Testable gene in GeneTests |
1 | KCNC3-D63G | homozygous | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview | |
1 | HADHB-T2TT | homozygous | 0.008 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests |
1 | 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 | ERCC2-K751Q | homozygous | 0.218 | Unknown pharmacogenetic | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
1 | ERCC2-D312N | homozygous | 0.145 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.032 (benign), Testable gene in GeneTests with associated GeneReview |
1 | VSIG10L-Q860Shift | homozygous | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Frameshift | |
1 | ZNF480-C3Shift | homozygous | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Frameshift | |
1 | ZNF480-P177S | het unknown | 0.161 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: 0.486 (possibly damaging) |
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-R313Q | het unknown | Unknown | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: Unknown | |
1 | ZNF880-K316R | het unknown | Unknown | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: Unknown | |
1 | ZNF880-S319T | het unknown | Unknown | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: Unknown | |
1 | ZNF880-Q406R | het unknown | Unknown | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: Unknown | |
1 | ZNF880-C413F | het unknown | Unknown not reviewed | 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 |
0.875 | BRCA2-N372H | het unknown | 0.230 | Recessive pathogenic | Low clinical importance, uncertain | This is a common variant of BRCA2 (HapMap allele frequency of 23%). The variant is weakly associated with an increased chance of breast cancer, and zygosity of the variant is associated with sex of children: male children are more likely to be homozygous for this variant, female children are more likely to be heterozygous. |
0.875 | BRCA2-V2466A | homozygous | 0.954 | Dominant benign | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
0.875 | BRCA2-Q2714R | het unknown | Unknown | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview | |
0.75 | ABCC6-R1268Q | het unknown | 0.142 | Unknown pharmacogenetic | Low clinical importance, uncertain | This common polymorphism appears to not have a significant phenotypic impact. A few studies report weak but significant associations with plasma lipids (in Inuits) and thalidomide toxicity. |
0.75 | ABCC6-L946I | het unknown | Unknown | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview | |
0.75 | ABCC6-M848V | homozygous | 0.954 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
0.75 | ABCC6-H632Q | homozygous | 0.342 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
0.75 | ABCC6-V614A | homozygous | 0.354 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
0.75 | SLC2A1-D236Shift | het unknown | Unknown | Insufficiently evaluated | Prioritization score: 4 Frameshift, Testable gene in GeneTests with associated GeneReview | |
0.75 | SLC2A1-T60M | het unknown | Unknown | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview | |
0.75 | PRNP-M129V | het unknown | 0.258 | Complex/Other protective | Low clinical importance, well-established | This variant is associated with some protective effects for prion disease -- individuals homozygous for this variant are less susceptible to Creutzfeldt-Jakob, and Papua New Guinea individuals heterozygotes at this site are less susceptible to kuru. |
0.625 | ASPM-R2524Shift | het unknown | Unknown | Insufficiently evaluated | Prioritization score: 4 Frameshift, Testable gene in GeneTests with associated GeneReview | |
0.625 | ASPM-Y2494H | homozygous | 0.992 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
0.5 | CUL7-Q813R | het unknown | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview | |
0.5 | PTCHD3-*768Q | het unknown | 0.570 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
0.5 | PTCHD3-I584M | homozygous | 0.963 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
0.5 | PTCHD3-M521T | het unknown | 0.498 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
0.5 | PTCHD3-D473G | het unknown | 0.499 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: 0.849 (possibly damaging) |
0.5 | PTCHD3-C407G | het unknown | 0.490 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: 1.0 (probably damaging) |
0.5 | PTCHD3-S309Shift | het unknown | 0.016 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Frameshift |
0.5 | PTCHD3-L152P | het unknown | 0.225 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: 0.995 (probably damaging) |
0.5 | TRERF1-D1187N | het unknown | 0.023 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.968 (probably damaging) |
0.5 | TRERF1-C834S | het unknown | 0.072 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: 0.989 (probably damaging) |
0.5 | SNAPC4-R729Q | het unknown | 0.017 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.999 (probably damaging) |
0.5 | DAAM2-R105H | het unknown | 0.016 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.978 (probably damaging) |
0.5 | DNMBP-C1413W | het unknown | 0.240 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: 0.566 (possibly damaging) |
0.5 | DNMBP-M831T | het unknown | 0.019 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.987 (probably damaging) |
0.5 | SLC34A3-G337S | het unknown | 0.040 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests |
0.5 | SLC34A3-E513V | homozygous | 0.915 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: Unknown, Testable gene in GeneTests |
0.5 | N4BP3-R317H | het unknown | 0.050 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 1.0 (probably damaging) |
0.5 | TUBAL3-R250W | het unknown | 0.039 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.999 (probably damaging) |
0.5 | EXD3-R810Q | het unknown | 0.017 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.973 (probably damaging) |
0.5 | EXD3-C545Y | homozygous | 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 | EXD3-R20Q | homozygous | 0.677 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
0.5 | ECHDC3-R20C | het unknown | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.961 (probably damaging) | |
0.5 | ECHDC3-A69T | homozygous | 0.836 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
0.5 | ECHDC3-A151T | homozygous | 0.873 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
0.5 | 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 | COL17A1-D1370G | het unknown | 0.257 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
0.5 | COL17A1-M703V | homozygous | 0.672 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
0.5 | COL17A1-G428S | homozygous | 0.771 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
0.5 | COL17A1-T210M | homozygous | 0.557 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
0.5 | CAPN11-I145Shift | het unknown | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Frameshift | |
0.5 | CAPN11-V266M | het unknown | 0.162 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: 0.013 (benign) |
0.5 | CAPN11-I521V | het unknown | 0.230 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: 0.061 (benign) |
0.5 | CAPN11-S728N | het unknown | 0.336 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
0.5 | TULP1-K261N | homozygous | 0.805 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
0.5 | TULP1-I259T | het unknown | 0.344 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
0.5 | TULP1-T67R | homozygous | 0.877 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
0.5 | 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: 2 Polyphen 2: 0.651 (possibly damaging), Testable gene in GeneTests with associated GeneReview |
0.5 | NDST2-M375V | het unknown | 0.008 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.945 (probably damaging) |
0.5 | ALDH5A1-G36R | het unknown | Unknown | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview | |
0.5 | ALDH5A1-H180Y | het unknown | 0.334 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
0.5 | ALDH5A1-P182L | het unknown | 0.023 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
0.5 | CNGB3-T298P | homozygous | 0.681 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.007 (benign), Testable gene in GeneTests with associated GeneReview |
0.5 | CNGB3-C234W | homozygous | 0.939 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
0.5 | CNGB3-N27S | het unknown | 0.008 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
0.5 | PROP1-N20S | homozygous | 1.000 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
0.5 | MYST4-P490S | het unknown | 0.008 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.968 (probably damaging) |
0.5 | FLT4-G1303A | het unknown | Unknown | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview | |
0.5 | FLT4-H890Q | homozygous | 0.355 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.714 (possibly damaging), Testable gene in GeneTests with associated GeneReview |
0.5 | GGH-T151I | het unknown | 0.089 | Unknown pharmacogenetic | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: 0.846 (possibly damaging) |
0.5 | GGH-A31T | het unknown | 0.198 | Unknown pharmacogenetic | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: Unknown |
0.5 | GGH-C6R | het unknown | 0.088 | Unknown pharmacogenetic | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: Unknown |
0.5 | HLA-H-E47K | het unknown | 0.061 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 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-R100C | het unknown | 0.039 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
0.5 | HLA-H-G181* | het unknown | 0.114 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 3 Nonsense mutation, Testable gene in GeneTests with associated GeneReview |
0.5 | HLA-H-S182W | het unknown | 0.392 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
0.5 | HLA-H-C238S | het unknown | 0.729 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
0.5 | CDH23-S494N | homozygous | 0.273 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
0.5 | CDH23-N1349D | het unknown | 0.772 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
0.5 | CDH23-A1572T | het unknown | 0.720 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
0.5 | CDH23-V1672I | het unknown | 0.133 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
0.5 | CDH23-T1996S | het unknown | 0.248 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
0.5 | HLA-DQA1-L8M | het unknown | 0.457 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
0.5 | HLA-DQA1-C34Y | het unknown | 0.547 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
0.5 | HLA-DQA1-F41S | het unknown | 0.544 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
0.5 | HLA-DQA1-E63G | het unknown | 0.233 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
0.5 | HLA-DQA1-A68V | het unknown | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview | |
0.5 | HLA-DQA1-RW70CL | het unknown | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview | |
0.5 | HLA-DQA1-EF73VL | het unknown | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview | |
0.5 | HLA-DQA1-SK75RQ | het unknown | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview | |
0.5 | HLA-DQA1-G79Del | het unknown | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview | |
0.5 | HLA-DQA1-G84F | het unknown | 0.122 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
0.5 | HLA-DQA1-R87T | het unknown | 0.170 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
0.5 | HLA-DQA1-M89I | het unknown | 0.200 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
0.5 | HLA-DQA1-A92L | het unknown | 0.151 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
0.5 | HLA-DQA1-IM98SL | het unknown | 0.066 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
0.5 | HLA-DQA1-Y103S | het unknown | 0.544 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
0.5 | HLA-DQA1-T130I | het unknown | 0.151 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
0.5 | HLA-DQA1-Q152H | het unknown | 0.526 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
0.5 | ABCC2-Y39F | homozygous | 0.990 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: Unknown, Testable gene in GeneTests |
0.5 | ABCC2-V417I | het unknown | 0.195 | Unknown pharmacogenetic | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.001 (benign), Testable gene in GeneTests |
0.5 | TNXB-V3186I | het unknown | 0.062 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
0.5 | TNXB-G2518E | het unknown | 0.658 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
0.5 | TNXB-R1255H | het unknown | 0.106 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
0.5 | TNXB-H1161R | het unknown | 0.568 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
0.5 | HSP90AB1-R604Q | het unknown | 0.020 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.888 (probably damaging) |
0.5 | CHAT-R375Q | het unknown | Unknown | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: Unknown, 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 | 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 | MICA-A47T | het unknown | 0.063 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
0.5 | MICA-Y59C | homozygous | 0.293 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
0.5 | MICA-Q114R | het unknown | 0.008 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: Unknown |
0.5 | MICA-V152M | homozygous | 0.314 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
0.5 | MICA-H179L | het unknown | 0.033 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: Unknown |
0.5 | MICA-E196K | homozygous | 0.363 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
0.5 | MICA-S229G | homozygous | 0.320 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
0.5 | MICA-R233W | homozygous | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: Unknown | |
0.5 | MICA-I236T | homozygous | 0.570 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
0.5 | MICA-T238S | homozygous | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: Unknown | |
0.5 | MICA-R274Q | homozygous | 0.538 | Unknown pharmacogenetic | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: Unknown |
0.5 | MICA-V300Shift | het unknown | Unknown | Insufficiently evaluated | Prioritization score: 2 Frameshift | |
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 | MDN1-I4720T | het unknown | 0.035 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: 0.017 (benign) |
0.5 | MDN1-R4266G | het unknown | 0.031 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.998 (probably damaging) |
0.5 | MDN1-A4044S | het unknown | 0.656 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: 0.035 (benign) |
0.5 | MDN1-S1559N | homozygous | 0.846 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
0.5 | MDN1-E1507V | het unknown | Unknown | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: Unknown | |
0.5 | MDN1-I660V | het unknown | 0.178 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: 0.057 (benign) |
0.5 | MDN1-F440V | het unknown | 0.154 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: 0.045 (benign) |
0.5 | PKHD1-Q4048R | het unknown | 0.566 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
0.5 | PKHD1-Q3899R | het unknown | 0.546 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
0.5 | PKHD1-S2861G | het unknown | Unknown | 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: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
0.5 | PKHD1-A1262V | het unknown | 0.239 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
0.5 | PKHD1-R760C | het unknown | 0.318 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
0.5 | POR-A503V | het unknown | 0.227 | Unknown pharmacogenetic | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
0.5 | ROR2-V819I | homozygous | 0.798 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
0.5 | ROR2-T245A | het unknown | 0.619 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
0.5 | CCM2-V53I | het unknown | 0.053 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.007 (benign), Testable gene in GeneTests with associated GeneReview |
0.5 | CCM2-V120I | het unknown | 0.091 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.001 (benign), Testable gene in GeneTests with associated GeneReview |
0.5 | NR_024390-W43* | het unknown | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Nonsense mutation | |
0.5 | NR_024390-A104P | het unknown | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: Unknown | |
0.5 | DFNB31-V783A | homozygous | 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 | homozygous | 0.487 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
0.5 | DFNB31-R364H | homozygous | 0.968 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
0.5 | MCPH1-R171S | homozygous | 0.865 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
0.5 | MCPH1-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: 2 Polyphen 2: 0.136 (benign), Testable gene in GeneTests with associated GeneReview |
0.5 | MCPH1-D392G | homozygous | 0.979 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
0.5 | MCPH1-T682N | het unknown | 0.148 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: 0.993 (probably damaging), Testable gene in GeneTests with associated GeneReview |
0.5 | MCPH1-A761V | homozygous | 0.504 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
0.5 | MCPH1-P828S | homozygous | 0.241 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
0.5 | ANKS6-P865S | het unknown | 0.008 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.991 (probably damaging) |
0.5 | ANKS6-V644I | het unknown | 0.868 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
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: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
0.5 | KIAA1045-S353Shift | het unknown | 0.019 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Frameshift |
0.5 | KIF4B-R580L | homozygous | 0.685 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
0.5 | KIF4B-Y684C | het unknown | 0.016 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.999 (probably damaging) |
0.5 | KIF4B-I834Shift | het unknown | 0.041 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Frameshift |
0.5 | RECQL4-R766Shift | homozygous | 0.278 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 3 Frameshift, Testable gene in GeneTests with associated GeneReview |
0.5 | RECQL4-S92P | homozygous | 1.000 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
0.5 | PLEC-R2969H | het unknown | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview | |
0.5 | PLEC-R2821W | het unknown | Unknown | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview | |
0.5 | PLEC-S2791P | het unknown | 0.272 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
0.5 | PLEC-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 | LAMB1-I1547T | het unknown | 0.008 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.999 (probably damaging) |
0.5 | LAMB1-Q1022R | het unknown | 0.701 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
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-N413S | het unknown | 0.193 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: 0.19 (benign), Testable gene in GeneTests |
0.5 | CYP3A7-R409T | homozygous | 0.669 | Unknown pharmacogenetic | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: Unknown |
0.5 | TAF1L-M371V | het unknown | 0.038 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.991 (probably damaging) |
0.5 | SLC26A3-C307W | het unknown | 0.008 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: 0.924 (probably damaging), Testable gene in GeneTests |
0.5 | TXNDC3-C208R | homozygous | 0.740 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
0.5 | GARS-P42A | homozygous | 0.654 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
0.5 | SLC30A8-R325W | het unknown | 0.225 | Unknown pharmacogenetic | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown |
0.5 | PEX2-C184R | homozygous | 0.990 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
0.5 | SETX-I1386V | homozygous | 0.494 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
0.5 | SETX-G1252R | homozygous | 0.494 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
0.5 | SETX-D1192E | homozygous | 0.598 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
0.5 | BACH2-L291V | het unknown | 0.008 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.98 (probably damaging) |
0.5 | PEX10-T274A | het unknown | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: 0.221 (possibly damaging), Testable gene in GeneTests with associated GeneReview | |
0.5 | LMBRD1-D469E | homozygous | 0.393 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.001 (benign), Testable gene in GeneTests with associated GeneReview |
0.5 | REXO4-T283A | het unknown | 0.035 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.957 (probably damaging) |
0.5 | REXO4-R141K | het unknown | 0.097 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
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 | MTHFD1L-R563H | het unknown | 0.016 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 1.0 (probably damaging) |
0.5 | AK125766-L144M | het unknown | 0.188 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
0.5 | AK125766-R117H | het unknown | 0.133 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
0.5 | AK125766-V114I | het unknown | 0.094 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
0.5 | AK125766-R20* | het unknown | 0.016 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Nonsense mutation |
0.5 | DNAH11-E34L | het unknown | 0.335 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
0.5 | DNAH11-V1023A | het unknown | 0.193 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
0.5 | DNAH11-T1038A | homozygous | 0.747 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
0.5 | DNAH11-V3715L | het unknown | 0.452 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
0.5 | DNAH11-M4172V | homozygous | 0.334 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
0.5 | DNAH11-T4177I | het unknown | 0.359 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
0.5 | DNAH11-K4508R | het unknown | 0.039 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
0.5 | HR-Q528R | het unknown | 0.062 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: 0.293 (possibly damaging) |
0.5 | HR-L526P | het unknown | 0.219 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
0.5 | HR-C397Y | het unknown | 0.042 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.928 (probably damaging) |
0.5 | HR-P62T | het unknown | Unknown | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: Unknown | |
0.5 | CDK5RAP2-V1540L | homozygous | 0.714 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
0.5 | CDK5RAP2-E289Q | homozygous | 0.801 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
0.5 | SLC22A2-S270A | homozygous | 0.876 | Unknown pharmacogenetic | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: Unknown |
0.5 | SYNE1-L8741M | het unknown | 0.098 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.088 (benign), Testable gene in GeneTests with associated GeneReview |
0.5 | 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 |
0.5 | SYNE1-F7302V | homozygous | 0.991 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
0.5 | SYNE1-L5015M | homozygous | 0.866 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
0.5 | SYNE1-S4596T | homozygous | 0.800 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
0.5 | SYNE1-K4121R | homozygous | 0.835 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
0.5 | SYNE1-E4060D | het unknown | 0.539 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.005 (benign), Testable gene in GeneTests with associated GeneReview |
0.5 | OPRM1-N40D | homozygous | 0.204 | Unknown pharmacogenetic | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
0.5 | OPRM1-Q402H | homozygous | 0.882 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
0.5 | TRMT12-W28R | het unknown | 0.615 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
0.5 | TRMT12-D195Shift | het unknown | 0.016 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Frameshift |
0.5 | TRMT12-D195E | het unknown | 0.016 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: 0.015 (benign) |
0.5 | UGT2B15-K523T | het unknown | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: Unknown | |
0.5 | UGT2B15-Y85D | homozygous | 0.500 | Unknown pharmacogenetic | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: Unknown |
0.5 | SLC26A2-I574T | homozygous | 0.994 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
0.5 | USH2A-M3868V | het unknown | 0.131 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
0.5 | USH2A-E3411A | het unknown | 0.638 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
0.5 | USH2A-I2169T | het unknown | 0.575 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
0.5 | USH2A-I2106T | homozygous | 0.629 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
0.5 | USH2A-R1486K | homozygous | 0.646 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.063 (benign), Testable gene in GeneTests with associated GeneReview |
0.5 | USH2A-A125T | het unknown | 0.777 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
0.5 | RAB3GAP2-S1092T | het unknown | 0.043 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.924 (probably damaging) |
0.5 | EDARADD-M9I | homozygous | 0.726 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
0.5 | HMCN1-I2418T | homozygous | 0.553 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: 0.468 (possibly damaging), Testable gene in GeneTests |
0.5 | HMCN1-E2893G | homozygous | 0.617 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.91 (probably damaging), Testable gene in GeneTests |
0.5 | HMCN1-Q4437R | homozygous | 0.547 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.997 (probably damaging), Testable gene in GeneTests |
0.5 | TSEN15-G19D | homozygous | 0.295 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.932 (probably damaging) |
0.5 | TSEN15-Q59H | homozygous | 0.283 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: 0.961 (probably damaging) |
0.5 | DUSP27-E265D | het unknown | 0.785 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
0.5 | DUSP27-D1067N | het unknown | 0.047 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.868 (probably damaging) |
0.5 | DUSP27-T1124N | het unknown | 0.407 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: 0.849 (possibly damaging) |
0.5 | SELE-S149R | het unknown | 0.039 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.978 (probably damaging) |
0.5 | TOR1AIP1-Q293H | het unknown | 0.033 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.874 (probably damaging) |
0.5 | LAMC2-T124M | het unknown | 0.076 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: 0.996 (probably damaging), Testable gene in GeneTests with associated GeneReview |
0.5 | LAMC2-P370L | het unknown | Unknown | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview | |
0.5 | GCKR-L446P | het unknown | 0.673 | Unknown pharmacogenetic | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown |
0.5 | C2orf71-S1225SS | het unknown | Unknown | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests | |
0.5 | C2orf71-P1089Del | het unknown | Unknown | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests | |
0.5 | C2orf71-T580M | het unknown | Unknown | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests | |
0.5 | C2orf71-P433S | het unknown | Unknown | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests | |
0.5 | C2orf71-A252D | het unknown | Unknown | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests | |
0.5 | C2orf71-S13C | het unknown | Unknown | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests | |
0.5 | ABCB11-V444A | homozygous | 0.606 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.002 (benign), Testable gene in GeneTests with associated GeneReview |
0.5 | LRP2-I4210L | homozygous | 0.462 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: 0.993 (probably damaging) |
0.5 | LRP2-K4094E | homozygous | 0.744 | Unknown pharmacogenetic | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: Unknown |
0.5 | LRP2-D1279A | het unknown | 0.031 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.998 (probably damaging) |
0.5 | LRP2-N83S | het unknown | 0.306 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: 0.001 (benign) |
0.5 | PDE11A-S921SS | het unknown | 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 | GLI2-A1156S | homozygous | 0.536 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
0.5 | TEKT4-N409K | het unknown | 0.009 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.994 (probably damaging) |
0.5 | ALK-D1529E | het unknown | 0.606 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
0.5 | ALK-I1461V | homozygous | 0.982 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
0.5 | ALK-V476A | het unknown | 0.008 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
0.5 | CYP1B1-V432L | het unknown | 0.547 | Unknown pharmacogenetic | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
0.5 | CYP1B1-A119S | het unknown | 0.080 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
0.5 | CYP1B1-R48G | het unknown | 0.360 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
0.5 | ALMS1-S524SP | homozygous | 0.578 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
0.5 | ALMS1-V671G | homozygous | 0.857 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
0.5 | ALMS1-R4029K | homozygous | 0.527 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
0.5 | DNAH6-V141M | homozygous | 0.942 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
0.5 | DNAH6-G1694A | homozygous | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: 0.026 (benign) | |
0.5 | DNAH6-Y2119C | het unknown | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.992 (probably damaging) | |
0.5 | DNAH6-V2550A | het unknown | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: 0.001 (benign) | |
0.5 | USP21-P91S | het unknown | 0.027 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.979 (probably damaging) |
0.5 | USP21-P336T | het unknown | 0.008 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: 0.01 (benign) |
0.5 | S100A4-S32Shift | het unknown | Unknown | Insufficiently evaluated | Prioritization score: 2 Frameshift | |
0.5 | S100A4-L29Shift | het unknown | Unknown | Insufficiently evaluated | Prioritization score: 2 Frameshift | |
0.5 | GJB4-C169W | het unknown | 0.032 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: 1.0 (probably damaging), Testable gene in GeneTests |
0.5 | PPT1-I134T | het unknown | 0.086 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.001 (benign), Testable gene in GeneTests with associated GeneReview |
0.5 | FAAH-P129T | het unknown | 0.237 | Unknown pharmacogenetic | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.001 (benign) |
0.5 | GRHL3-T454M | het unknown | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.999 (probably damaging) | |
0.5 | FUCA1-P10R | het unknown | 1.000 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.894 (probably damaging), Testable gene in GeneTests |
0.5 | FUCA1-R2W | het unknown | 0.079 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.928 (probably damaging), Testable gene in GeneTests |
0.5 | RNF207-N573S | het unknown | 0.474 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
0.5 | RNF207-G603A | het unknown | 0.165 | Unknown pharmacogenetic | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.006 (benign) |
0.5 | MTHFR-E429A | het unknown | 0.243 | Unknown pharmacogenetic | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.099 (benign), Testable gene in GeneTests |
0.5 | TNFRSF1B-M196R | het unknown | 0.206 | Unknown pharmacogenetic | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.986 (probably damaging) |
0.5 | SPATA21-K361KK | homozygous | Unknown | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: Unknown | |
0.5 | SPATA21-P119L | het unknown | 0.031 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.996 (probably damaging) |
0.5 | CYP4A22-R126W | het unknown | 0.289 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
0.5 | CYP4A22-G130S | het unknown | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.999 (probably damaging) | |
0.5 | CYP4A22-N152Y | het unknown | 0.790 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
0.5 | CYP4A22-C231R | het unknown | 0.598 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
0.5 | CYP4A22-P385L | het unknown | 0.016 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 1.0 (probably damaging) |
0.5 | CYP4A22-L428P | het unknown | 0.297 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
0.5 | CPT2-V368I | homozygous | 0.477 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
0.5 | CPT2-M647V | het unknown | 0.093 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.462 (possibly damaging), Testable gene in GeneTests with associated GeneReview |
0.5 | FCGR1B-R175H | het unknown | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.998 (probably damaging) | |
0.5 | FCGR1B-M171K | het unknown | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.987 (probably damaging) | |
0.5 | SEC22B-D70Y | het unknown | 0.003 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: Unknown |
0.5 | SEC22B-T81K | het unknown | 0.500 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
0.5 | SEC22B-R107Q | het unknown | 0.002 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: Unknown |
0.5 | SEC22B-C129R | het unknown | 0.085 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
0.5 | SEC22B-R131* | het unknown | 0.019 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Nonsense mutation |
0.5 | SEC22B-H189R | het unknown | 0.508 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
0.5 | FLG-V3179G | het unknown | 0.339 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.001 (benign), Testable gene in GeneTests with associated GeneReview |
0.5 | FLG-D2936G | het unknown | 0.138 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
0.5 | FLG-H2507Q | het unknown | 0.318 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.002 (benign), Testable gene in GeneTests with associated GeneReview |
0.5 | FLG-L2481S | het unknown | 0.222 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.003 (benign), Testable gene in GeneTests with associated GeneReview |
0.5 | FLG-S2366T | het unknown | 0.125 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: 0.967 (probably damaging), Testable gene in GeneTests with associated GeneReview |
0.5 | FLG-VG2225AV | het unknown | 0.028 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
0.5 | FLG-L2224Q | het unknown | 0.028 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
0.5 | FLG-Y2119H | het unknown | 0.119 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
0.5 | FLG-S2045T | het unknown | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview | |
0.5 | FLG-R1891Q | het unknown | 0.061 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
0.5 | FLG-R1699C | het unknown | 0.428 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
0.5 | FLG-R1684H | het unknown | 0.190 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
0.5 | FLG-S1482Y | het unknown | 0.243 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
0.5 | FLG-R1376G | het unknown | 0.170 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
0.5 | FLG-R1360H | het unknown | 0.164 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
0.5 | FLG-A1167G | het unknown | 0.425 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
0.5 | FLG-E755K | het unknown | 0.155 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
0.5 | FLG-P478S | het unknown | 0.318 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.001 (benign), Testable gene in GeneTests with associated GeneReview |
0.5 | FLG-T454A | het unknown | 0.328 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.075 (benign), Testable gene in GeneTests with associated GeneReview |
0.5 | FLG-G444R | het unknown | 0.319 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: 0.991 (probably damaging), Testable gene in GeneTests with associated GeneReview |
0.5 | FLG-G332V | het unknown | 0.227 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: 0.995 (probably damaging), Testable gene in GeneTests with associated GeneReview |
0.5 | COL11A1-S1547P | homozygous | 0.752 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
0.5 | COL11A1-P1335L | het unknown | 0.479 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
0.5 | DBT-S384G | homozygous | 0.869 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
0.5 | LRP8-R952Q | het unknown | 0.130 | Unknown pharmacogenetic | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown |
0.5 | LRP8-D46E | het unknown | 0.621 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
0.5 | LRRIQ3-A558V | het unknown | 0.039 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: 0.01 (benign) |
0.5 | LRRIQ3-E434K | het unknown | 0.047 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.955 (probably damaging) |
0.5 | LRRIQ3-M129I | het unknown | 0.059 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: 0.819 (possibly damaging) |
0.5 | RWDD3-I15V | het unknown | 0.010 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.939 (probably damaging) |
0.5 | RWDD3-V47A | homozygous | 0.945 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
0.5 | RWDD3-N86K | homozygous | 0.786 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
0.5 | DPYD-R29C | homozygous | 0.731 | Complex/Other pharmacogenetic | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: Unknown, Testable gene in GeneTests |
0.5 | COL3A1-A698T | het unknown | 0.181 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
0.5 | COL3A1-H1353Q | homozygous | 0.990 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
0.5 | ALS2-V368M | homozygous | 0.869 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
0.5 | CFI-T300A | homozygous | 0.957 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
0.5 | SYNPO2-R147Del | het unknown | 0.273 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
0.5 | SYNPO2-Q174H | het unknown | 0.204 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: 0.305 (possibly damaging) |
0.5 | SYNPO2-T573A | homozygous | 0.829 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
0.5 | SYNPO2-R1009W | het unknown | 0.016 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.986 (probably damaging) |
0.5 | UFSP2-K103R | het unknown | 0.031 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.985 (probably damaging) |
0.5 | HADH-L86P | homozygous | 0.859 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
0.5 | PDHA2-R286P | het unknown | 0.023 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 1.0 (probably damaging) |
0.5 | EVC-Q74P | het unknown | 0.092 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.985 (probably damaging), Testable gene in GeneTests |
0.5 | EVC-D95G | het unknown | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: 0.985 (probably damaging), Testable gene in GeneTests | |
0.5 | EVC-Y258H | het unknown | 0.721 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.985 (probably damaging), Testable gene in GeneTests |
0.5 | EVC-T372M | het unknown | 0.025 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: 0.998 (probably damaging), Testable gene in GeneTests |
0.5 | EVC-T449K | het unknown | 0.871 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: Unknown, Testable gene in GeneTests |
0.5 | UGT2A1-V391I | het unknown | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: 0.032 (benign) | |
0.5 | UGT2A1-G308R | het unknown | 0.068 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: 0.999 (probably damaging) |
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 | ENAM-P724L | het unknown | 0.033 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests |
0.5 | AFP-K187Q | het unknown | 0.008 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.852 (probably damaging) |
0.5 | DNAH5-I4450V | het unknown | 0.481 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
0.5 | DNAH5-A4134V | het unknown | 0.450 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
0.5 | DNAH5-L2862F | het unknown | 0.212 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.006 (benign), Testable gene in GeneTests with associated GeneReview |
0.5 | DNAH5-R2501P | het unknown | Unknown | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview | |
0.5 | DNAH5-Q2463R | het unknown | 0.263 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: 0.99 (probably damaging), Testable gene in GeneTests with associated GeneReview |
0.5 | DNAH5-I766L | homozygous | 0.404 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.026 (benign), Testable gene in GeneTests with associated GeneReview |
0.5 | DNAH5-H12Q | homozygous | 0.896 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
0.5 | IL7R-I66T | het unknown | 0.597 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: Unknown, Testable gene in GeneTests |
0.5 | IL7R-V138I | het unknown | 0.689 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: Unknown, Testable gene in GeneTests |
0.5 | IL7R-I356V | het unknown | 0.214 | Unknown pharmacogenetic | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests |
0.5 | PCSK1-S690T | het unknown | 0.218 | Unknown pharmacogenetic | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.061 (benign), Testable gene in GeneTests |
0.5 | PCSK1-Q665E | het unknown | 0.238 | Unknown pharmacogenetic | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests |
0.5 | ADRB2-G16R | het unknown | 0.477 | Unknown pharmacogenetic | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.001 (benign), Testable gene in GeneTests |
0.5 | ADRB2-E27Q | het unknown | 0.773 | Unknown pharmacogenetic | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.001 (benign), Testable gene in GeneTests |
0.5 | SH3TC2-V1158I | het unknown | 0.016 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.001 (benign), Testable gene in GeneTests with associated GeneReview |
0.5 | SH3TC2-A468S | het unknown | 0.198 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.001 (benign), Testable gene in GeneTests with associated GeneReview |
0.5 | GPR98-L127R | het unknown | 0.016 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: 0.654 (possibly damaging), Testable gene in GeneTests with associated GeneReview |
0.5 | GPR98-L1093F | het unknown | 0.835 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
0.5 | GPR98-V1951I | het unknown | 0.820 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
0.5 | GPR98-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: 3 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 | het unknown | 0.825 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
0.5 | GPR98-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 | homozygous | 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 | AP3B1-F887L | het unknown | 0.008 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
0.5 | AP3B1-V585E | homozygous | 0.806 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.002 (benign), Testable gene in GeneTests with associated GeneReview |
0.5 | GHR-I544L | homozygous | 0.473 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.98 (probably damaging), Testable gene in GeneTests |
0.5 | 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 | CCNO-I219Shift | het unknown | 0.010 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Frameshift |
0.5 | FAM169A-E511K | het unknown | 0.023 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.97 (probably damaging) |
0.5 | DOK7-H113P | homozygous | 0.183 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
0.5 | DOK7-R120Q | homozygous | 0.146 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
0.5 | DOK7-T137I | homozygous | 0.177 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
0.5 | DOK7-R38G | homozygous | 0.208 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
0.5 | DOK7-R38G | homozygous | 0.208 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
0.5 | ANO10-R462Q | het unknown | 0.602 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
0.5 | ANO10-R263H | het unknown | 0.039 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 1.0 (probably damaging) |
0.5 | SLC6A20-T199M | het unknown | 0.037 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 1.0 (probably damaging) |
0.5 | CCR5-S185Shift | het unknown | 0.048 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Frameshift |
0.5 | ANO7-D70N | het unknown | 0.016 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.955 (probably damaging) |
0.5 | COL4A3-P116T | het unknown | Unknown | 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: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
0.5 | COL4A3-R408H | het unknown | 0.064 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
0.5 | COL4A3-H451R | het unknown | 0.090 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
0.5 | CTLA4-T17A | homozygous | 0.463 | Unknown pharmacogenetic | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: 0.001 (benign) |
0.5 | ABCA12-S777T | homozygous | 1.000 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
0.5 | 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 | homozygous | 0.723 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
0.5 | OBSL1-R723K | homozygous | 0.770 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
0.5 | COL4A4-S1400P | homozygous | 0.504 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
0.5 | COL4A4-P1330L | het unknown | Unknown | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview | |
0.5 | COL4A4-V1327M | homozygous | 0.464 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
0.5 | COL4A4-P1004L | homozygous | 0.528 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
0.5 | COL4A4-P482S | homozygous | 0.493 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
0.5 | SCAP-V798I | homozygous | 0.289 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
0.5 | SCAP-C147Shift | het unknown | Unknown | Insufficiently evaluated | Prioritization score: 2 Frameshift | |
0.5 | SCAP-C147Shift | het unknown | Unknown | Insufficiently evaluated | Prioritization score: 2 Frameshift | |
0.5 | NCKIPSD-P551S | het unknown | 0.024 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.992 (probably damaging) |
0.5 | RTP1-R174C | het unknown | 0.024 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 1.0 (probably damaging) |
0.5 | RTP1-Q229E | het unknown | 0.349 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
0.5 | IDUA-H33Q | homozygous | 0.750 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.008 (benign), Testable gene in GeneTests with associated GeneReview |
0.5 | POLN-Q121H | het unknown | 0.039 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.992 (probably damaging) |
0.5 | HTT-Y2309H | het unknown | 0.459 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
0.5 | HTT-I2395F | het unknown | Unknown | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview | |
0.5 | HTT-V2786I | het unknown | 0.193 | Unknown pharmacogenetic | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
0.5 | CLCN2-E718D | het unknown | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests | |
0.5 | CLCN2-R688Q | het unknown | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: 0.001 (benign), Testable gene in GeneTests | |
0.5 | CLCN2-T668S | het unknown | 0.378 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: Unknown, Testable gene in GeneTests |
0.5 | CLCN2-R646RR | het unknown | Unknown | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests | |
0.5 | ALG3-F200S | het unknown | 0.025 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.153 (benign), Testable gene in GeneTests with associated GeneReview |
0.5 | KBTBD8-F179L | het unknown | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.998 (probably damaging) | |
0.5 | GBE1-I334V | homozygous | 0.979 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
0.5 | 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 | DRD3-G9S | homozygous | 0.482 | Unknown pharmacogenetic | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: Unknown |
0.5 | ADAMTS13-R7W | het unknown | 0.062 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: Unknown, Testable gene in GeneTests |
0.5 | ADAMTS13-Q448E | homozygous | 0.211 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: Unknown, Testable gene in GeneTests |
0.5 | ADAMTS13-P618A | het unknown | 0.023 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: 0.998 (probably damaging), Testable gene in GeneTests |
0.5 | CPNE1-A402Shift | het unknown | 0.008 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Frameshift |
0.5 | CPNE1-P347R | het unknown | 0.084 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: 0.384 (possibly damaging) |
0.5 | CPNE1-Q211R | het unknown | 0.274 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
0.5 | ZNF224-M118V | homozygous | 0.793 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
0.5 | ZNF224-H162L | homozygous | 0.780 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: 0.262 (possibly damaging) |
0.5 | ZNF224-K640E | homozygous | 0.593 | Unknown pharmacogenetic | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: Unknown |
0.5 | PROZ-R295H | het unknown | 0.005 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.884 (probably damaging) |
0.5 | PLCG2-R268W | het unknown | 0.033 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.95 (probably damaging) |
0.5 | ABCC4-G187W | het unknown | 0.070 | Unknown pharmacogenetic | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: Unknown |
0.5 | THSD1-R694I | het unknown | 0.047 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.999 (probably damaging) |
0.5 | THSD1-D491H | het unknown | 0.047 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: 0.463 (possibly damaging) |
0.5 | HNRNPA1L2-T26Shift | het unknown | 0.016 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Frameshift |
0.5 | NR_028064-G139Shift | het unknown | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Frameshift | |
0.5 | NR_028064-H49Q | het unknown | 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 | CYP2B6-Q172H | homozygous | 0.295 | Unknown pharmacogenetic | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: 0.009 (benign) |
0.5 | CYP2B6-K262R | homozygous | 0.298 | Unknown pharmacogenetic | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: Unknown |
0.5 | NQO1-P187S | het unknown | 0.283 | Unknown pharmacogenetic | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.215 (possibly damaging) |
0.5 | AKAP6-E892K | het unknown | 0.016 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.968 (probably damaging) |
0.5 | SIPA1L3-T968M | het unknown | Unknown | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: Unknown | |
0.5 | SIPA1L3-R1330L | het unknown | 0.008 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.959 (probably damaging) |
0.5 | SIPA1L3-P1450A | het unknown | 0.056 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: 0.854 (probably damaging) |
0.5 | MYH6-V1663I | het unknown | Unknown | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview | |
0.5 | MYH6-DA1661ET | het unknown | Unknown | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview | |
0.5 | PRX-G1132R | homozygous | 0.978 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
0.5 | PRX-P1083R | het unknown | 0.082 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 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: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
0.5 | PRX-V882A | homozygous | 0.493 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.014 (benign), Testable gene in GeneTests with associated GeneReview |
0.5 | HYDIN-H4269Y | het unknown | 0.124 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
0.5 | HYDIN-E4159Q | het unknown | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: Unknown | |
0.5 | HYDIN-T4004A | het unknown | 0.432 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
0.5 | HYDIN-Q3904Shift | het unknown | 0.500 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 1 Frameshift |
0.5 | HYDIN-M3868R | het unknown | 0.306 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
0.5 | HYDIN-V3839L | het unknown | 0.500 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
0.5 | HYDIN-R3747C | het unknown | 0.068 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
0.5 | HYDIN-V3741I | het unknown | 0.500 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
0.5 | HYDIN-A3738T | het unknown | 0.500 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
0.5 | HYDIN-L3315P | het unknown | 0.500 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
0.5 | HYDIN-A3290P | het unknown | 0.500 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
0.5 | HYDIN-T3115R | het unknown | 0.250 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
0.5 | HYDIN-I2693S | het unknown | 0.500 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
0.5 | HYDIN-K2588R | het unknown | 0.500 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
0.5 | HYDIN-D2569N | het unknown | 0.500 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
0.5 | HYDIN-G2557E | het unknown | 0.994 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
0.5 | HYDIN-K2529E | het unknown | 0.053 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
0.5 | HYDIN-TEKER2520Del | het unknown | 0.644 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
0.5 | HYDIN-L2501S | het unknown | 0.500 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
0.5 | HYDIN-P2454Q | homozygous | 1.000 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: 0.001 (benign) |
0.5 | HYDIN-N2444I | het unknown | 0.500 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: 0.001 (benign) |
0.5 | HYDIN-E2305G | het unknown | 0.347 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: 0.988 (probably damaging) |
0.5 | HYDIN-R2297G | het unknown | 0.500 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: 0.997 (probably damaging) |
0.5 | HYDIN-Q2275R | het unknown | 0.125 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: 0.955 (probably damaging) |
0.5 | HYDIN-Q2241R | het unknown | 0.500 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: 0.001 (benign) |
0.5 | HYDIN-K2143E | het unknown | 0.016 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.903 (probably damaging) |
0.5 | HYDIN-V2098M | het unknown | 0.500 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: 0.001 (benign) |
0.5 | HYDIN-R2086C | het unknown | 0.500 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: 0.998 (probably damaging) |
0.5 | HYDIN-S2046T | het unknown | 0.025 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: 0.82 (possibly damaging) |
0.5 | HYDIN-V1717M | het unknown | 0.144 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: 0.651 (possibly damaging) |
0.5 | HYDIN-I1533V | het unknown | 0.500 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: 0.001 (benign) |
0.5 | HYDIN-P1491H | het unknown | 0.347 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: 0.994 (probably damaging) |
0.5 | HYDIN-V1228L | het unknown | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: Unknown | |
0.5 | HYDIN-I1077V | het unknown | 0.500 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: 0.082 (benign) |
0.5 | HYDIN-N724D | het unknown | 0.500 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: 0.955 (probably damaging) |
0.5 | HYDIN-T690A | het unknown | 0.500 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: 0.955 (probably damaging) |
0.5 | FAM98C-E108K | homozygous | Unknown | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: Unknown | |
0.5 | FAM98C-T160I | het unknown | 0.016 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.993 (probably damaging) |
0.5 | LAMA1-L2144V | het unknown | 0.039 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.993 (probably damaging) |
0.5 | LAMA1-I2076T | het unknown | 0.319 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
0.5 | LAMA1-K2002E | homozygous | 0.691 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
0.5 | LAMA1-A1876T | het unknown | 0.138 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
0.5 | LAMA1-I1659V | het unknown | 0.159 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
0.5 | LAMA1-S1577A | het unknown | 0.172 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: 0.397 (possibly damaging) |
0.5 | LAMA1-M1340V | het unknown | 0.203 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: 0.942 (probably damaging) |
0.5 | LAMA1-N674T | homozygous | 0.165 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: 0.167 (benign) |
0.5 | ARL11-P131L | het unknown | 0.008 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.895 (probably damaging) |
0.5 | ARL11-C148R | het unknown | 0.251 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: 0.153 (benign) |
0.5 | AK094748-D110A | het unknown | 0.049 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: Unknown |
0.5 | AK094748-S209Shift | het unknown | 0.019 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Frameshift |
0.5 | ACADS-R171W | het unknown | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.587 (possibly damaging), Testable gene in GeneTests | |
0.5 | SH2B3-W262R | het unknown | 0.768 | Unknown pharmacogenetic | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown |
0.5 | PKD1-I4045V | het unknown | 0.250 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
0.5 | PKD1-H2638R | het unknown | Unknown | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview | |
0.5 | PKD1-W1399R | het unknown | 0.025 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.031 (benign), Testable gene in GeneTests with associated GeneReview |
0.5 | PKD1-V1005I | het unknown | Unknown | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview | |
0.5 | PKD1-L950P | het unknown | Unknown | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview | |
0.5 | CRLS1-A20T | het unknown | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: 0.012 (benign) | |
0.5 | CRLS1-P193L | het unknown | 0.048 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.988 (probably damaging) |
0.5 | PANK2-G126A | homozygous | 0.917 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
0.5 | SACS-V3369A | homozygous | 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 | CACNG6-C252S | het unknown | 0.034 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.999 (probably damaging) |
0.5 | FUT2-W154* | het unknown | 0.364 | Unknown pharmacogenetic | Insufficiently evaluated | Prioritization score: 2 Nonsense mutation |
0.5 | FUT2-G258S | het unknown | 0.390 | Unknown pharmacogenetic | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: 0.954 (probably damaging) |
0.5 | CARD14-G144E | het unknown | Unknown | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: Unknown | |
0.5 | CARD14-Q145L | het unknown | Unknown | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: Unknown | |
0.5 | CARD14-V585I | het unknown | 0.090 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
0.5 | CARD14-R682W | het unknown | 0.016 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 1.0 (probably damaging) |
0.5 | HTR2A-H452Y | het unknown | 0.098 | Unknown pharmacogenetic | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: 0.489 (possibly damaging) |
0.5 | CTNS-T260I | homozygous | 0.825 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
0.5 | C1QBP-T130M | het unknown | 0.008 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.998 (probably damaging) |
0.5 | NLRP12-F402L | het unknown | 0.016 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: 0.996 (probably damaging), Testable gene in GeneTests |
0.5 | AKAP11-E902G | het unknown | 0.008 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.952 (probably damaging) |
0.5 | WDHD1-P638A | het unknown | 0.039 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.999 (probably damaging) |
0.5 | WDR62-K771R | het unknown | 0.016 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests |
0.5 | WDR62-L850S | het unknown | 0.677 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: Unknown, Testable gene in GeneTests |
0.5 | WDR62-Q1310L | homozygous | 0.726 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: Unknown, Testable gene in GeneTests |
0.5 | WDR62-G1375S | het unknown | 0.016 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests |
0.5 | WDR62-L1390F | het unknown | 0.736 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: Unknown, Testable gene in GeneTests |
0.5 | JSRP1-P108L | het unknown | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.997 (probably damaging) | |
0.5 | JSRP1-V92A | het unknown | 0.193 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: 0.6 (possibly damaging) |
0.5 | JSRP1-G45S | het unknown | 0.075 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
0.5 | NOD2-P268S | het unknown | 0.105 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: Unknown, Testable gene in GeneTests |
0.5 | NOD2-L1007Shift | het unknown | 0.008 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 3 Frameshift, Testable gene in GeneTests |
0.5 | HEXA-I436V | homozygous | 0.748 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
0.5 | NR2E3-T318Shift | homozygous | 1.000 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Frameshift, Testable gene in GeneTests |
0.5 | VMAC-R109H | het unknown | 0.018 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.99 (probably damaging) |
0.5 | SLC24A1-S332Shift | het unknown | 0.019 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Frameshift |
0.5 | GRIN3B-H117Y | het unknown | 0.167 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: 0.841 (possibly 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 | homozygous | 0.681 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
0.5 | GRIN3B-G466Shift | het unknown | 0.023 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Frameshift |
0.5 | GRIN3B-T577M | het unknown | 0.347 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: 0.001 (benign) |
0.5 | GRIN3B-A845T | het unknown | 0.097 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: 0.137 (benign) |
0.5 | GRIN3B-Q1006E | het unknown | 0.433 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: 0.051 (benign) |
0.5 | GRIN3B-P1039R | het unknown | 0.122 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
0.5 | SLC28A1-V189I | homozygous | 0.313 | Unknown pharmacogenetic | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: Unknown |
0.5 | SLC28A1-Q237K | het unknown | 0.241 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
0.5 | SLC28A1-D521N | het unknown | 0.226 | Unknown pharmacogenetic | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: Unknown |
0.5 | SH2B1-T484A | het unknown | 0.217 | Unknown pharmacogenetic | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown |
0.5 | ABCA3-L316LFL | het unknown | 0.016 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests |
0.5 | ABCA3-E292V | het unknown | Unknown | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests | |
0.5 | MRPL28-H27Y | het unknown | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.999 (probably damaging) | |
0.5 | ATP8B1-A1152T | homozygous | 0.998 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
0.5 | ATP8B1-R952Q | het unknown | 0.052 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: 0.999 (probably damaging), Testable gene in GeneTests with associated GeneReview |
0.5 | DMBT1-P42T | het unknown | 0.732 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: 0.941 (probably damaging) |
0.5 | DMBT1-S54L | het unknown | 0.692 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: 0.84 (possibly damaging) |
0.5 | DMBT1-H1084Y | het unknown | 0.050 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.999 (probably damaging) |
0.5 | AGBL1-R112C | het unknown | 0.023 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.928 (probably damaging) |
0.5 | AGBL1-Q1010R | homozygous | 1.000 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
0.5 | FANCI-A86V | het unknown | 0.219 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
0.5 | FANCI-C742S | het unknown | 0.234 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
0.5 | FANCI-I877L | het unknown | 0.086 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
0.5 | 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 | ADAMTS10-H1101Q | homozygous | 1.000 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
0.5 | ADAMTS10-T134S | het unknown | 0.910 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.001 (benign), Testable gene in GeneTests with associated GeneReview |
0.5 | 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-D248N | het unknown | 0.080 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: 0.972 (probably damaging), Testable gene in GeneTests with associated GeneReview |
0.5 | GALC-T112A | het unknown | Unknown | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview | |
0.5 | GALC-A21P | het unknown | 0.019 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.163 (benign), Testable gene in GeneTests with associated GeneReview |
0.5 | SPATA7-D2N | homozygous | 0.155 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.665 (possibly damaging), Testable gene in GeneTests with associated GeneReview |
0.5 | MLH3-P844L | het unknown | 0.298 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.002 (benign), Testable gene in GeneTests with associated GeneReview |
0.5 | MLH3-N826D | homozygous | 0.981 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
0.5 | PRODH2-P91R | het unknown | 0.045 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.243 (possibly damaging), Testable gene in GeneTests |
0.5 | GPR56-S281R | het unknown | 0.750 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
0.5 | GPR56-Q306H | het unknown | 0.094 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
0.5 | RDH12-R161Q | het unknown | 0.076 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: 0.941 (probably damaging), Testable gene in GeneTests with associated GeneReview |
0.5 | NPHS1-V991L | het unknown | 0.023 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests |
0.5 | NPHS1-E117K | het unknown | 0.297 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.997 (probably damaging), Testable gene in GeneTests |
0.5 | PGLYRP2-R476W | het unknown | 0.003 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.998 (probably damaging) |
0.5 | PGLYRP2-R394Q | het unknown | 0.233 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: 0.018 (benign) |
0.5 | PGLYRP2-M270K | het unknown | 0.399 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: 0.2 (possibly damaging) |
0.5 | PGLYRP2-R99Q | het unknown | 0.364 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: 0.001 (benign) |
0.5 | PGLYRP2-T46A | het unknown | 0.366 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
0.5 | XRCC3-T241M | homozygous | 0.218 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.188 (benign) |
0.5 | ACTL9-R271P | het unknown | 0.009 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.997 (probably damaging) |
0.5 | SLC28A2-P22L | homozygous | 0.248 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
0.5 | SLC28A2-S75R | homozygous | 0.253 | Unknown pharmacogenetic | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: Unknown |
0.5 | COL5A3-A1488P | het unknown | 0.382 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
0.5 | COL5A3-R1122H | het unknown | 0.016 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.997 (probably damaging) |
0.5 | COL5A3-R322G | het unknown | 0.925 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
0.5 | COL5A3-A280P | het unknown | 0.159 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
0.5 | COL5A3-N226Y | het unknown | 0.164 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
0.5 | LAMA3-P1208T | het unknown | 0.042 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
0.5 | LAMA3-S2834G | homozygous | 0.993 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
0.5 | THBS1-N700S | het unknown | 0.048 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.998 (probably damaging) |
0.5 | NOTCH3-A2223V | homozygous | 0.553 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
0.5 | SALL1-V1275I | homozygous | 0.983 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
0.5 | DEFB126-P106Shift | het unknown | 0.023 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Frameshift |
0.5 | B4GALNT3-G59S | het unknown | 0.140 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
0.5 | B4GALNT3-K411R | het unknown | 0.264 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: 0.236 (possibly damaging) |
0.5 | B4GALNT3-R992H | het unknown | 0.031 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.997 (probably damaging) |
0.5 | BC112980-K147Shift | het unknown | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Frameshift | |
0.5 | NPAT-N999K | het unknown | 0.016 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.98 (probably damaging) |
0.5 | NPAT-V575I | homozygous | 0.570 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
0.5 | NSF-V361M | het unknown | 0.024 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.993 (probably damaging) |
0.5 | PCNXL3-Q258R | homozygous | 1.000 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
0.5 | PCNXL3-R1917Q | het unknown | 0.031 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.932 (probably damaging) |
0.5 | MEN1-T546A | homozygous | 0.791 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
0.5 | SCYL1-K632Shift | het unknown | Unknown | Insufficiently evaluated | Prioritization score: 2 Frameshift | |
0.5 | SCYL1-D633Shift | het unknown | Unknown | Insufficiently evaluated | Prioritization score: 2 Frameshift | |
0.5 | SCYL1-A635Shift | het unknown | Unknown | Insufficiently evaluated | Prioritization score: 2 Frameshift | |
0.5 | COL1A1-T1075A | homozygous | 0.961 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
0.5 | NR_027444-W159Shift | het unknown | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Frameshift | |
0.5 | ARSE-G424S | homozygous | 0.543 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.003 (benign), Testable gene in GeneTests with associated GeneReview |
0.5 | CCDC63-Y303F | het unknown | 0.008 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.996 (probably damaging) |
0.5 | KAL1-V534I | homozygous | 0.543 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
0.5 | 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 | ATM-N1983S | homozygous | 0.991 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
0.5 | ATM-T2921M | het unknown | Unknown | 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: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
0.5 | DMD-K2366Q | het unknown | 0.152 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: 0.875 (probably damaging), Testable gene in GeneTests with associated GeneReview |
0.5 | 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 | homozygous | 0.727 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
0.5 | AKAP1-A18V | het unknown | 0.047 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.96 (probably damaging) |
0.5 | MS4A14-I56Shift | het unknown | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Frameshift | |
0.5 | MS4A14-N177Y | het unknown | 0.543 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: 0.981 (probably damaging) |
0.5 | MS4A14-G584R | het unknown | 0.513 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: 0.003 (benign) |
0.5 | OR10V1-Q123R | homozygous | 0.963 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
0.5 | OR10V1-V117A | het unknown | 0.210 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
0.5 | OR10V1-A67E | het unknown | 0.048 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.989 (probably damaging) |
0.5 | XIAP-Q423P | homozygous | 0.277 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.053 (benign), Testable gene in GeneTests with associated GeneReview |
0.5 | IRF7-Q412R | het unknown | 0.465 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: 0.001 (benign) |
0.5 | IRF7-D204N | het unknown | 0.016 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.99 (probably damaging) |
0.5 | IRF7-K179E | het unknown | 0.473 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: 0.137 (benign) |
0.5 | FRMD7-S281L | het unknown | 0.077 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.265 (possibly damaging), Testable gene in GeneTests with associated GeneReview |
0.5 | F9-T194A | homozygous | 0.144 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.006 (benign), Testable gene in GeneTests with associated GeneReview |
0.5 | OPN1LW-I111V | het unknown | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview | |
0.5 | OPN1LW-S116Y | het unknown | Unknown | Insufficiently evaluated | Prioritization score: 3 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: 2 Polyphen 2: 0.001 (benign), Testable gene in GeneTests with associated GeneReview |
0.5 | OPN1LW-I230T | het unknown | 0.027 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.002 (benign), Testable gene in GeneTests with associated GeneReview |
0.5 | OPN1LW-A233S | het unknown | 0.039 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
0.5 | OPN1LW-A298P | het unknown | Unknown | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview | |
0.5 | MKI67-I2101T | het unknown | 0.120 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: 0.02 (benign) |
0.5 | MKI67-R832W | het unknown | 0.031 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 1.0 (probably damaging) |
0.5 | MKI67-G216E | het unknown | 0.016 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: 0.03 (benign) |
0.5 | MKI67-N104S | het unknown | 0.618 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: 0.417 (possibly damaging) |
0.5 | AK160367-G206A | het unknown | 0.045 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 1 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 | KCNE1L-P33S | het unknown | 0.022 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.979 (probably damaging) |
0.5 | H19-G355R | homozygous | 0.359 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
0.5 | H19-V94I | homozygous | 0.361 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
0.5 | H19-W38R | homozygous | 0.342 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
0.5 | SLC6A5-G102S | het unknown | 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: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
0.5 | PGAM4-R86H | het unknown | 0.011 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.998 (probably damaging) |
0.5 | ATP7A-E1350K | homozygous | 1.000 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
0.5 | GNGT2-Q17R | het unknown | 0.023 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.999 (probably damaging) |
0.5 | B4GALNT2-R523W | het unknown | 0.008 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.99 (probably damaging) |
0.5 | ABCC8-A1369S | homozygous | 0.755 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
0.5 | ASMTL-*622Shift | het unknown | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Frameshift | |
0.5 | ASMTL-R541K | het unknown | 0.327 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: 0.048 (benign) |
0.5 | ASMTL-A417E | het unknown | Unknown | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: Unknown | |
0.5 | TSEN54-E4D | homozygous | 0.675 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
0.5 | TSEN54-K347N | homozygous | 0.430 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: 0.968 (probably damaging), Testable gene in GeneTests with associated GeneReview |
0.5 | TSEN54-A437V | homozygous | 0.515 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.001 (benign), Testable gene in GeneTests with associated GeneReview |
0.5 | WNK1-T665I | het unknown | 0.067 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
0.5 | WNK1-T1056P | homozygous | 0.838 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
0.5 | WNK1-C1506S | homozygous | 1.000 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
0.5 | WNK1-M1808I | het unknown | 0.431 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
0.5 | HPS4-Q620H | homozygous | 0.806 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: 0.859 (probably damaging), Testable gene in GeneTests with associated GeneReview |
0.5 | HPS4-H601Y | homozygous | 0.807 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
0.5 | HPS4-V547M | homozygous | 0.780 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
0.5 | HPS4-L438V | het unknown | 0.344 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
0.5 | HPS4-E224G | homozygous | 0.779 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
0.5 | LIME1-P211L | het unknown | 0.023 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.999 (probably damaging) |
0.5 | FAM83F-G353S | het unknown | 0.032 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: Unknown |
0.5 | FAM83F-R436G | het unknown | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.939 (probably damaging) | |
0.5 | TRIOBP-P89A | het unknown | Unknown | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests | |
0.5 | TRIOBP-T715I | het unknown | Unknown | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests | |
0.5 | TRIOBP-H1300R | homozygous | 0.431 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: 0.006 (benign), Testable gene in GeneTests |
0.5 | TRIOBP-E1372D | homozygous | 0.237 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: 0.293 (possibly damaging), 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 | DNAI2-A558T | homozygous | 0.674 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
0.5 | 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: 3 Polyphen 2: 0.999 (probably damaging), Testable gene in GeneTests with associated GeneReview |
0.5 | COL6A2-G935R | het unknown | 0.070 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.036 (benign), Testable gene in GeneTests with associated GeneReview |
0.5 | HOXC6-R67W | het unknown | 0.023 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.999 (probably damaging) |
0.5 | KRT4-G160GAGGFGAGFGTGGFG | het unknown | 0.008 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests |
0.5 | CHRNB1-E32G | homozygous | 0.172 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.288 (possibly damaging), Testable gene in GeneTests with associated GeneReview |
0.5 | BBS10-P539L | het unknown | 0.039 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.19 (benign), Testable gene in GeneTests with associated GeneReview |
0.5 | MFSD6L-L85I | het unknown | 0.041 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.914 (probably damaging) |
0.5 | NLRP1-R1366C | het unknown | 0.085 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: 0.159 (benign) |
0.5 | NLRP1-V1241L | het unknown | 0.046 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: Unknown |
0.5 | NLRP1-M1184V | het unknown | 0.433 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
0.5 | NLRP1-M1119V | het unknown | 0.080 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
0.5 | NLRP1-T995I | het unknown | 0.043 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: 0.442 (possibly damaging) |
0.5 | NLRP1-T878M | het unknown | 0.034 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: 0.384 (possibly damaging) |
0.5 | NLRP1-T782S | het unknown | 0.055 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: 0.001 (benign) |
0.5 | NLRP1-T246S | het unknown | 0.032 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: Unknown |
0.5 | NLRP1-L155H | homozygous | 0.120 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.064 (benign) |
0.5 | ST13-M297I | het unknown | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.914 (probably damaging) | |
0.5 | BRIP1-S919P | homozygous | 0.652 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
0.5 | BRCA1-S1634G | homozygous | 0.292 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
0.5 | BRCA1-K1183R | homozygous | 0.302 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
0.5 | BRCA1-E1038G | homozygous | 0.265 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.462 (possibly damaging), Testable gene in GeneTests with associated GeneReview |
0.5 | BRCA1-P871L | homozygous | 0.555 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
0.5 | BRCA1-D693N | het unknown | 0.031 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.004 (benign), Testable gene in GeneTests with associated GeneReview |
0.5 | CLECL1-S52Shift | het unknown | 0.008 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Frameshift |
0.5 | VWF-F2561Y | het unknown | 0.039 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: 0.293 (possibly damaging), Testable gene in GeneTests with associated GeneReview |
0.5 | VWF-T1381A | het unknown | 0.754 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
0.5 | VWF-Q852R | homozygous | 0.904 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 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: 2 Polyphen 2: 0.004 (benign), Testable gene in GeneTests with associated GeneReview |
0.5 | VWF-H484R | homozygous | 0.498 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.83 (possibly damaging), Testable gene in GeneTests with associated GeneReview |
0.5 | MAPT-GT539AA | het unknown | 0.008 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
0.5 | SCN4A-N1376D | homozygous | 0.604 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
0.5 | SCN4A-S524G | homozygous | 0.938 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
0.5 | KRT14-C63Y | homozygous | 0.976 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
0.5 | SALL4-L507R | homozygous | 0.328 | Dominant not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.125 (benign), Testable gene in GeneTests with associated GeneReview |
0.5 | LARP4-F351L | het unknown | 0.007 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.99 (probably damaging) |
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 | MLC1-C171F | het unknown | 0.095 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.04 (benign), Testable gene in GeneTests with associated GeneReview |
0.5 | LRRK2-R50H | homozygous | 0.927 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
0.5 | LRRK2-N551K | homozygous | 0.121 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
0.5 | LRRK2-R1398H | homozygous | 0.123 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
0.5 | LRRK2-M2397T | homozygous | 0.526 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
0.5 | TUBGCP6-R1763W | het unknown | 0.020 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.992 (probably damaging) |
0.5 | TUBGCP6-V1621L | homozygous | 0.998 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
0.5 | TUBGCP6-T1377A | homozygous | 0.408 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: 0.003 (benign) |
0.5 | TUBGCP6-L567S | homozygous | 0.860 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: 0.012 (benign) |
0.375 | NAT2-I114T | het unknown | 0.220 | Recessive pharmacogenetic | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown |
0.375 | NAT2-R268K | het unknown | 0.675 | Unknown pharmacogenetic | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: Unknown |
0.25 | COL6A3-T3069I | het unknown | 0.364 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
0.25 | COL6A3-A3012P | het unknown | 0.843 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
0.25 | COL6A3-M2927T | het unknown | 0.674 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
0.25 | VGLL4-R275Shift | het unknown | Unknown | Insufficiently evaluated | Prioritization score: 2 Frameshift | |
0.25 | VGLL4-I38M | homozygous | 0.941 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
0.25 | NDUFV2-V29A | homozygous | 0.755 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: Unknown, Testable gene in GeneTests |
0.25 | NDUFV2-T235Shift | het unknown | Unknown | Insufficiently evaluated | Prioritization score: 3 Frameshift, Testable gene in GeneTests | |
0.25 | NPC1-M642I | het unknown | 0.863 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
0.25 | ATIC-T116S | het unknown | 0.184 | Unknown pharmacogenetic | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: 0.001 (benign) |
0.25 | COG1-N392S | het unknown | 0.536 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
0.25 | FLNB-D1157N | het unknown | 0.538 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: 0.997 (probably damaging), Testable gene in GeneTests with associated GeneReview |
0.25 | FLNB-V1471M | het unknown | 0.607 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.02 (benign), Testable gene in GeneTests with associated GeneReview |
0.25 | GAA-H199R | het unknown | 0.574 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
0.25 | GAA-R223H | het unknown | 0.606 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
0.25 | GAA-V780I | het unknown | 0.720 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
0.25 | TMEM43-K168N | het unknown | 0.335 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.064 (benign), Testable gene in GeneTests with associated GeneReview |
0.25 | TMEM43-M179T | het unknown | 0.487 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
0.25 | KLF11-Q62R | het unknown | 0.102 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.986 (probably damaging), Testable gene in GeneTests |
0.25 | DSC2-I776V | het unknown | 0.223 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
0.25 | POM121L4P-R209* | het unknown | Unknown | Insufficiently evaluated | Prioritization score: 2 Nonsense mutation | |
0.25 | POM121L4P-W232R | het unknown | Unknown | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: Unknown | |
0.25 | NGF-R80Q | het unknown | Unknown | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests | |
0.25 | NGF-A35V | het unknown | 0.244 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: 0.123 (benign), Testable gene in GeneTests |
0.25 | TYMP-S471L | het unknown | 0.565 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: 0.961 (probably damaging), Testable gene in GeneTests with associated GeneReview |
0.25 | SLC19A1-H27R | het unknown | 0.447 | Unknown pharmacogenetic | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: 0.002 (benign) |
0.25 | CBR3-C4Y | het unknown | 0.391 | Unknown pharmacogenetic | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: 0.002 (benign) |
0.25 | CBR3-V244M | het unknown | 0.398 | Unknown pharmacogenetic | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: 0.014 (benign) |
0.25 | PTK6-P77R | het unknown | Unknown | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: Unknown | |
0.25 | PTK6-P77Shift | het unknown | Unknown | Insufficiently evaluated | Prioritization score: 2 Frameshift | |
0.25 | SON-S830Shift | het unknown | Unknown | Insufficiently evaluated | Prioritization score: 2 Frameshift | |
0.25 | SON-S1202L | homozygous | 1.000 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
0.25 | SON-M1502I | het unknown | 0.169 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
0.25 | SON-R1575C | het unknown | 0.721 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
0.25 | SON-R2416Shift | homozygous | 1.000 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 1 Frameshift |
0.25 | KCNE1-S38G | het unknown | 0.710 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.003 (benign), Testable gene in GeneTests with associated GeneReview |
0.25 | ARSA-T391S | het unknown | 0.423 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
0.25 | IFI44L-H73R | het unknown | 0.455 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
0.25 | IFI44L-I235T | het unknown | 0.190 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
0.25 | IFI44L-Y291* | het unknown | Unknown | Insufficiently evaluated | Prioritization score: 2 Nonsense mutation | |
0.25 | CDA-K27Q | het unknown | 0.190 | Unknown pharmacogenetic | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: Unknown |
0.25 | NAP1L3-P224A | het unknown | 0.611 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
0.25 | NAP1L3-S36Shift | het unknown | Unknown | Insufficiently evaluated | Prioritization score: 2 Frameshift | |
0.25 | CROCC-R7G | homozygous | 1.000 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
0.25 | CROCC-A355Shift | het unknown | Unknown | Insufficiently evaluated | Prioritization score: 2 Frameshift | |
0.25 | FAM104B-Q80* | het unknown | Unknown | Insufficiently evaluated | Prioritization score: 2 Nonsense mutation | |
0.25 | FAM104B-D75N | het unknown | 0.171 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
0.25 | FAM104B-S61G | het unknown | 0.360 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
0.25 | FAM104B-I54L | het unknown | 0.525 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
0.25 | KCNQ4-H455Q | het unknown | 0.156 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.191 (benign), Testable gene in GeneTests with associated GeneReview |
0.25 | 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 | LEPR-K109R | het unknown | 0.332 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: 0.026 (benign), Testable gene in GeneTests |
0.25 | LEPR-Q223R | het unknown | 0.569 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: 0.484 (possibly damaging), Testable gene in GeneTests |
0.25 | CYP4B1-R173W | het unknown | 0.184 | Unknown pharmacogenetic | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: Unknown |
0.25 | SELP-V640L | het unknown | 0.295 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown |
0.25 | SELP-D603N | het unknown | 0.780 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
0.25 | SELP-S331N | het unknown | 0.228 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
0.25 | FMO3-E158K | het unknown | 0.374 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
0.25 | BC127844-H23R | homozygous | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: Unknown | |
0.25 | BC127844-MG12IT | het unknown | Unknown | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: Unknown | |
0.25 | BC127844-M12Shift | het unknown | Unknown | Insufficiently evaluated | Prioritization score: 2 Frameshift | |
0.25 | SULT1C4-D5E | het unknown | 0.371 | Unknown pharmacogenetic | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: Unknown |
0.25 | MCEE-R104L | het unknown | 0.194 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.003 (benign), Testable gene in GeneTests with associated GeneReview |
0.25 | 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 | MAN2B1-R337Q | het unknown | 0.237 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.027 (benign), Testable gene in GeneTests with associated GeneReview |
0.25 | MAN2B1-T312I | het unknown | 0.324 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.045 (benign), Testable gene in GeneTests with associated GeneReview |
0.25 | MAN2B1-L278V | het unknown | 0.236 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
0.25 | SCN1A-A1056T | het unknown | 0.806 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
0.25 | DSG4-I459Shift | het unknown | Unknown | Insufficiently evaluated | Prioritization score: 2 Frameshift | |
0.25 | DSG4-I644L | het unknown | 0.954 | Unknown not reviewed | 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 | KCTD18-T387Shift | het unknown | Unknown | Insufficiently evaluated | Prioritization score: 2 Frameshift | |
0.25 | KCTD18-A333V | het unknown | 0.114 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: 0.001 (benign) |
0.25 | SLC3A1-F266S | het unknown | Unknown | 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: 1 Polyphen 2: 0.003 (benign), Testable gene in GeneTests |
0.25 | HIPK4-D430H | het unknown | Unknown | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: Unknown | |
0.25 | HIPK4-T3Shift | het unknown | Unknown | Insufficiently evaluated | Prioritization score: 2 Frameshift | |
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 | homozygous | 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-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-T3496Shift | het unknown | Unknown | Insufficiently evaluated | Prioritization score: 2 Frameshift | |
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 | het unknown | 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 | DNAH14-K4375N | het unknown | Unknown | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: Unknown | |
0.25 | FPR1-E346A | homozygous | 0.800 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
0.25 | FPR1-V101L | het unknown | 0.336 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
0.25 | FPR1-I11T | het unknown | 0.831 | Unknown pharmacogenetic | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: Unknown |
0.25 | MFSD4-S156Shift | het unknown | Unknown | Insufficiently evaluated | Prioritization score: 2 Frameshift | |
0.25 | MFSD4-G314A | het unknown | 0.343 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
0.25 | AGT-M268T | het unknown | 0.733 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
0.25 | RYR2-Q2958R | het unknown | 0.133 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
0.25 | PLA2G4C-P298Shift | het unknown | Unknown | Insufficiently evaluated | Prioritization score: 2 Frameshift | |
0.25 | PLA2G4C-S203P | het unknown | 0.673 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
0.25 | PLA2G4C-P151L | het unknown | 0.046 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: Unknown |
0.25 | ATXN7-K264R | het unknown | 0.103 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: 0.949 (probably damaging), Testable gene in GeneTests with associated GeneReview |
0.25 | ATXN7-V862M | het unknown | 0.485 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
0.25 | TPO-A257S | het unknown | 0.387 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: Unknown, Testable gene in GeneTests |
0.25 | TPO-A373S | het unknown | 0.188 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: 0.001 (benign), Testable gene in GeneTests |
0.25 | TPO-S398T | het unknown | 0.684 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.988 (probably damaging), Testable gene in GeneTests |
0.25 | TPO-T725P | het unknown | 0.524 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: Unknown, Testable gene in GeneTests |
0.25 | TPO-V847A | homozygous | 0.674 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: 0.001 (benign), Testable gene in GeneTests |
0.25 | CD19-L174V | het unknown | 0.876 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
0.25 | PMS2-K541E | het unknown | 0.904 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
0.25 | GDF11-G369GNLLY | het unknown | Unknown | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: Unknown | |
0.25 | GDF11-C371Shift | het unknown | Unknown | Insufficiently evaluated | Prioritization score: 2 Frameshift | |
0.25 | CEP290-K838E | het unknown | 0.108 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
0.25 | SCYL2-P357L | het unknown | 0.086 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: 0.846 (possibly damaging) |
0.25 | SCYL2-N785Shift | het unknown | Unknown | Insufficiently evaluated | Prioritization score: 2 Frameshift | |
0.25 | PON1-Q192R | het unknown | 0.572 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown |
0.25 | PON1-L55M | het unknown | 0.230 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown |
0.25 | CREB3L2-Y318Shift | het unknown | Unknown | Insufficiently evaluated | Prioritization score: 2 Frameshift | |
0.25 | CREB3L2-V130I | het unknown | 0.831 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
0.25 | CREB3L2-T100Del | het unknown | Unknown | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: Unknown | |
0.25 | ZNF783-G134Shift | het unknown | Unknown | Insufficiently evaluated | Prioritization score: 2 Frameshift | |
0.25 | ZNF783-G135R | het unknown | Unknown | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: Unknown | |
0.25 | KRT6B-I365V | het unknown | 1.000 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.003 (benign), Testable gene in GeneTests with associated GeneReview |
0.25 | KRT6C-R182Q | het unknown | 0.281 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.805 (possibly damaging), Testable gene in GeneTests with associated GeneReview |
0.25 | LZTS1-L475V | het unknown | 0.096 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: 0.033 (benign) |
0.25 | LZTS1-N459Shift | het unknown | Unknown | Insufficiently evaluated | Prioritization score: 2 Frameshift | |
0.25 | NOS3-D298E | het unknown | 0.844 | Unknown pharmacogenetic | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: Unknown |
0.25 | KRT5-D197E | het unknown | 0.276 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.005 (benign), Testable gene in GeneTests with associated GeneReview |
0.25 | COL1A2-P549A | het unknown | 0.907 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
0.25 | MMAB-M239K | het unknown | 0.469 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
0.25 | 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 | FKBP9-R107H | het unknown | Unknown | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: Unknown | |
0.25 | FKBP9-Y193* | het unknown | Unknown | Insufficiently evaluated | Prioritization score: 2 Nonsense mutation | |
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 | BC033456-K101E | homozygous | 0.969 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
0.25 | BC033456-Q54Shift | het unknown | Unknown | Insufficiently evaluated | Prioritization score: 2 Frameshift | |
0.25 | BC033456-Q54Shift | het unknown | Unknown | Insufficiently evaluated | Prioritization score: 2 Frameshift | |
0.25 | NPSR1-N107I | het unknown | 0.462 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown |
0.25 | NPSR1-S241R | het unknown | 0.304 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: 0.019 (benign) |
0.25 | GLI3-T183A | het unknown | 0.663 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
0.25 | ABCB1-S893A | het unknown | 0.625 | Unknown pharmacogenetic | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: Unknown |
0.25 | ELN-G422S | het unknown | 0.225 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
0.25 | GTF2IRD2P1-R561* | het unknown | Unknown | Insufficiently evaluated | Prioritization score: 2 Nonsense mutation | |
0.25 | GTF2IRD2P1-V397A | het unknown | Unknown | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: Unknown | |
0.25 | GTF2IRD2P1-F47Y | het unknown | Unknown | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: Unknown | |
0.25 | NACAD-C1152F | het unknown | 0.095 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
0.25 | NACAD-D1105E | het unknown | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: Unknown | |
0.25 | NACAD-A1100Shift | het unknown | Unknown | Insufficiently evaluated | Prioritization score: 2 Frameshift | |
0.25 | NACAD-A1019V | het unknown | 0.221 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: 0.366 (possibly damaging) |
0.25 | NACAD-K591E | het unknown | 0.544 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
0.25 | NACAD-V498A | het unknown | 0.308 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: 0.001 (benign) |
0.25 | NACAD-D438E | het unknown | 0.257 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
0.25 | GUSB-L649P | homozygous | 0.535 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: Unknown, Testable gene in GeneTests |
0.25 | GUSB-D152N | het unknown | Unknown | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests | |
0.25 | CHRNA2-T125A | het unknown | 0.644 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
0.25 | EPHX2-R287Q | het unknown | 0.148 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: 1.0 (probably damaging) |
0.25 | PTF1A-S263P | het unknown | 0.654 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.981 (probably damaging), Testable gene in GeneTests |
0.25 | C10orf113-D100H | het unknown | Unknown | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: Unknown | |
0.25 | C10orf113-R62G | het unknown | Unknown | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: Unknown | |
0.25 | C10orf113-S22Shift | het unknown | Unknown | Insufficiently evaluated | Prioritization score: 2 Frameshift | |
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 | MYO7A-S1666C | het unknown | 0.610 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
0.25 | MYO7A-L1954I | het unknown | 0.552 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
0.25 | TH-V108M | het unknown | 0.416 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
0.25 | PCDH15-S19A | het unknown | 0.174 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.013 (benign), Testable gene in GeneTests with associated GeneReview |
0.25 | CALHM1-L86P | het unknown | 1.000 | Unknown pharmacogenetic | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: Unknown |
0.25 | PLCE1-R548L | het unknown | 0.188 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.998 (probably damaging), Testable gene in GeneTests |
0.25 | PLCE1-R1575P | het unknown | 0.517 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: Unknown, Testable gene in GeneTests |
0.25 | PLCE1-T1777I | het unknown | 0.342 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: Unknown, Testable gene in GeneTests |
0.25 | PLCE1-H1927R | het unknown | 0.328 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: 0.002 (benign), Testable gene in GeneTests |
0.25 | PDE6C-S270T | het unknown | 0.419 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
0.25 | MUC5AC-V52F | het unknown | 0.055 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
0.25 | MUC5AC-S221R | het unknown | 0.221 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
0.25 | MUC5AC-V497A | homozygous | 0.977 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
0.25 | MUC5AC-E660G | het unknown | 0.316 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
0.25 | MUC5AC-R677W | het unknown | 0.196 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
0.25 | MUC5AC-P2165L | het unknown | 0.025 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: Unknown |
0.25 | MUC5AC-L3268P | het unknown | Unknown | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: Unknown | |
0.25 | MUC5AC-F3655S | het unknown | 0.701 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
0.25 | MUC5AC-T3714M | het unknown | 0.008 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: Unknown |
0.25 | MUC5AC-T3867A | het unknown | 1.000 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
0.25 | MUC5AC-Q6036Shift | het unknown | Unknown | Insufficiently evaluated | Prioritization score: 2 Frameshift | |
0.25 | BMPR1A-P2T | het unknown | 0.549 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
0.25 | MTMR2-K3T | het unknown | 0.216 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
0.25 | 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: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
0.25 | TMEM67-I604V | het unknown | 0.710 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
0.25 | NBN-E185Q | het unknown | 0.338 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
0.25 | SLCO1B3-S112A | het unknown | 0.646 | Unknown pharmacogenetic | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: Unknown |
0.25 | SLCO1B3-M233I | het unknown | 0.659 | Unknown pharmacogenetic | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: 0.131 (benign) |
0.25 | RP1-N985Y | het unknown | 0.206 | Unknown benign | Low clinical importance, uncertain | Probably benign. One report linked this variant to high triglycerides, but a later paper found a nearby SNP with similar association and suggests that both findings are caused by linkage to an undiscovered causal variant. |
0.25 | RP1-C2033Y | het unknown | 0.186 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.957 (probably damaging), Testable gene in GeneTests |
0.25 | COL2A1-T9S | het unknown | 0.598 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
0.25 | TG-S734A | het unknown | 0.698 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests |
0.25 | TG-M1028V | het unknown | 0.696 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: 0.003 (benign), Testable gene in GeneTests |
0.25 | TG-D1312G | homozygous | 0.344 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: Unknown, Testable gene in GeneTests |
0.25 | TG-D1838N | homozygous | 0.304 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: 0.061 (benign), Testable gene in GeneTests |
0.25 | TG-W2501R | het unknown | 0.566 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: 0.031 (benign), Testable gene in GeneTests |
0.25 | TG-R2530Q | het unknown | 0.586 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: 0.003 (benign), Testable gene in GeneTests |
0.25 | KANK1-E432Q | het unknown | 0.145 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: 0.009 (benign) |
0.25 | KANK1-S464A | het unknown | 0.216 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
0.25 | KANK1-Y845Shift | het unknown | Unknown | Insufficiently evaluated | Prioritization score: 2 Frameshift | |
0.25 | KANK1-I1055T | het unknown | 0.195 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
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 | PTCH1-G1343R | het unknown | Unknown | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview | |
0.25 | PTCH1-P1315L | homozygous | 0.401 | Unknown benign | Low clinical importance, uncertain | Common polymorphism, presumed benign. |
0.25 | DPAGT1-I393V | het unknown | 0.431 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
0.25 | SNX19-L878R | het unknown | 0.808 | Unknown pharmacogenetic | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: Unknown |
0.25 | SNX19-N753S | het unknown | 0.617 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
0.25 | SNX19-L618F | homozygous | 0.994 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
0.25 | SNX19-P480L | het unknown | 0.151 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: 0.977 (probably damaging) |
0.25 | SNX19-S407G | het unknown | 0.202 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
0.25 | SNX19-D396E | het unknown | 0.151 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
0.25 | SNX19-G381S | het unknown | 0.151 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: 0.001 (benign) |
0.25 | SNX19-V361L | het unknown | 0.671 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
0.25 | DNAI1-V335I | het unknown | 0.173 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.467 (possibly damaging), Testable gene in GeneTests with associated GeneReview |
0.25 | VWDE-F1485C | homozygous | 0.734 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
0.25 | VWDE-K1273Shift | het unknown | Unknown | Insufficiently evaluated | Prioritization score: 2 Frameshift | |
0.25 | VWDE-Q1256K | het unknown | 0.720 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
0.25 | VWDE-T1032M | homozygous | 0.773 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
0.25 | VWDE-K964N | het unknown | 0.510 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
0.25 | VWDE-S607F | homozygous | 0.748 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
0.25 | VWDE-G340D | homozygous | 0.845 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
0.25 | VWDE-F292I | homozygous | 0.615 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
0.25 | VWDE-S142F | het unknown | 0.722 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
0.25 | BBS4-I354T | het unknown | 0.399 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
0.25 | GK-E485K | het unknown | 0.114 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: Unknown, Testable gene in GeneTests |
0.25 | GK-G382* | het unknown | Unknown | Insufficiently evaluated | Prioritization score: 3 Nonsense mutation, Testable gene in GeneTests | |
0.25 | OTUD4-Y678Shift | het unknown | Unknown | Insufficiently evaluated | Prioritization score: 2 Frameshift | |
0.25 | OTUD4-G333V | het unknown | Unknown | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: Unknown | |
0.25 | GCSH-S21L | het unknown | 0.750 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
0.25 | LRRC50-K393R | het unknown | 0.321 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.683 (possibly damaging), Testable gene in GeneTests with associated GeneReview |
0.25 | LRRC50-P502L | het unknown | 0.272 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.005 (benign), Testable gene in GeneTests with associated GeneReview |
0.25 | LRRC50-L633S | het unknown | 0.261 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
0.25 | LRRC50-L659V | het unknown | 0.112 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.001 (benign), Testable gene in GeneTests with associated GeneReview |
0.25 | LRRC50-L659P | het unknown | 0.352 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
0.25 | 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 |
0.25 | MTRR-S202L | het unknown | 0.285 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
0.25 | MTRR-K377R | het unknown | 0.260 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
0.25 | MTRR-H622Y | het unknown | 0.218 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
0.25 | MARVELD2-T33I | het unknown | 0.454 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: Unknown, Testable gene in GeneTests |
0.25 | MARVELD2-M345V | het unknown | Unknown | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests | |
0.25 | FAM20C-I320Shift | het unknown | Unknown | Insufficiently evaluated | Prioritization score: 2 Frameshift | |
0.25 | FAM20C-N564D | het unknown | Unknown | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: Unknown | |
0.25 | FBN2-V965I | het unknown | 0.714 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
0.25 | APC-V1822D | het unknown | 0.887 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
0.25 | CLCN7-V418M | het unknown | 0.103 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
0.25 | VCAN-G428D | het unknown | 0.215 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: 0.923 (probably damaging), Testable gene in GeneTests with associated GeneReview |
0.25 | VCAN-K1516R | het unknown | 0.480 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
0.25 | VCAN-F2301Y | het unknown | 0.462 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
0.25 | ZNF469-S357P | homozygous | 0.985 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
0.25 | ZNF469-R366S | homozygous | 0.801 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: 0.133 (benign) |
0.25 | ZNF469-S539C | het unknown | 0.018 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: 0.774 (possibly damaging) |
0.25 | ZNF469-K1162E | homozygous | 0.816 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: 0.034 (benign) |
0.25 | ZNF469-P1420L | het unknown | 0.742 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
0.25 | ZNF469-A2710T | het unknown | 0.054 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: 0.036 (benign) |
0.25 | ZNF469-H2848R | homozygous | 0.988 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
0.25 | ZNF469-R3078Shift | het unknown | Unknown | Insufficiently evaluated | Prioritization score: 2 Frameshift | |
0.25 | ZNF469-G3631R | het unknown | 0.043 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: 0.001 (benign) |
0.25 | ZNF469-T3636A | homozygous | 0.992 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: 0.001 (benign) |
0.25 | C16orf85-E145D | het unknown | Unknown | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: Unknown | |
0.25 | C16orf85-R98Shift | het unknown | Unknown | Insufficiently evaluated | Prioritization score: 2 Frameshift | |
0.25 | C16orf85-P25R | het unknown | Unknown | Insufficiently evaluated | Prioritization score: 1 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 | IQCB1-C434Y | het unknown | 0.198 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.999 (probably damaging), Testable gene in GeneTests |
0.25 | HGD-Q80H | het unknown | 0.742 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
0.25 | MYH15-T1125A | het unknown | 0.180 | Unknown pharmacogenetic | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: 0.007 (benign) |
0.25 | MYH15-H504Y | het unknown | 0.578 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: 0.997 (probably damaging) |
0.25 | CLDN16-R55Shift | het unknown | 0.172 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Frameshift, Testable gene in GeneTests |
0.25 | SLFN12L-Y412C | het unknown | 0.804 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
0.25 | SLFN12L-Y350Shift | het unknown | Unknown | Insufficiently evaluated | Prioritization score: 2 Frameshift | |
0.25 | UGT2B7-E225K | het unknown | Unknown | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: Unknown | |
0.25 | UGT2B7-Y268H | het unknown | 0.727 | Unknown pharmacogenetic | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: Unknown |
0.25 | TLR6-S249P | het unknown | 0.855 | Unknown pharmacogenetic | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: Unknown |
0.25 | SLC2A9-P350L | homozygous | 0.232 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: Unknown, Testable gene in GeneTests |
0.25 | SLC2A9-R294H | het unknown | 0.296 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 1.0 (probably damaging), Testable gene in GeneTests |
0.25 | SLC2A9-G25R | het unknown | 0.358 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: Unknown, Testable gene in GeneTests |
0.25 | TNFRSF13B-P251L | het unknown | 0.206 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.183 (benign), Testable gene in GeneTests with associated GeneReview |
0.25 | AIPL1-D90H | het unknown | 0.210 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.029 (benign), Testable gene in GeneTests with associated GeneReview |
0.25 | TMC3-D1098N | homozygous | 0.800 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
0.25 | TMC3-S1044* | het unknown | Unknown | Insufficiently evaluated | Prioritization score: 2 Nonsense mutation | |
0.25 | TMC3-C892Y | homozygous | 0.444 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
0.25 | TCOF1-P1139R | het unknown | 0.211 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
0.25 | TCOF1-A1353V | het unknown | 0.194 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
0.25 | COL9A1-S339P | het unknown | 0.507 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
0.25 | RPGRIP1-K192E | het unknown | 0.446 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
0.25 | MUT-I671V | het unknown | 0.522 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
0.25 | MUT-R532H | het unknown | 0.238 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
0.25 | GPR111-S49P | het unknown | 0.089 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
0.25 | GPR111-I153L | het unknown | Unknown | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: Unknown | |
0.25 | GPR111-S154Shift | het unknown | Unknown | Insufficiently evaluated | Prioritization score: 2 Frameshift | |
0.25 | GPR111-L256M | het unknown | 0.495 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
0.25 | LCA5-L24S | het unknown | 0.904 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.001 (benign), Testable gene in GeneTests with associated GeneReview |
0.25 | TEP1-S1195P | het unknown | 0.703 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
0.25 | TEP1-R1055C | het unknown | 0.631 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
0.25 | SUCLA2-S199T | het unknown | 0.722 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
0.25 | ATP7B-V1140A | het unknown | 0.495 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
0.25 | ATP7B-R952K | het unknown | 0.481 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
0.25 | ATP7B-K832R | het unknown | 0.455 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.461 (possibly damaging), Testable gene in GeneTests with associated GeneReview |
0.25 | 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 | FIG4-V654A | het unknown | 0.467 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
0.25 | RSPH4A-R556H | het unknown | 0.203 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: 1.0 (probably damaging), Testable gene in GeneTests with associated GeneReview |
0.25 | RSPH4A-L589P | het unknown | 0.707 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
0.25 | SIX6-H141N | het unknown | 0.314 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.008 (benign), Testable gene in GeneTests with associated GeneReview |
0.25 | SPG11-F463S | het unknown | 0.470 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
0.25 | SYNE2-I574T | het unknown | 0.118 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: 0.294 (possibly damaging), Testable gene in GeneTests |
0.25 | SYNE2-M1969T | het unknown | 0.637 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.991 (probably damaging), Testable gene in GeneTests |
0.25 | SYNE2-A2284V | het unknown | 0.637 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: 0.289 (possibly damaging), Testable gene in GeneTests |
0.25 | SYNE2-S2359N | het unknown | 0.676 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: 0.697 (possibly damaging), Testable gene in GeneTests |
0.25 | SYNE2-A2395T | het unknown | 0.835 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: Unknown, Testable gene in GeneTests |
0.25 | SYNE2-S2802G | het unknown | 0.864 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: 0.012 (benign), Testable gene in GeneTests |
0.25 | SYNE2-I2942V | het unknown | 0.622 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: Unknown, Testable gene in GeneTests |
0.25 | SYNE2-D3253H | het unknown | 0.684 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.933 (probably damaging), Testable gene in GeneTests |
0.25 | SYNE2-H3309R | het unknown | 0.647 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: 0.001 (benign), Testable gene in GeneTests |
0.25 | SYNE2-W4001Q | het unknown | 0.078 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: Unknown, Testable gene in GeneTests |
0.25 | SYNE2-L5186M | homozygous | 0.708 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: Unknown, Testable gene in GeneTests |
0.25 | DSP-R1738Q | het unknown | 0.236 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.295 (possibly damaging), Testable gene in GeneTests with associated GeneReview |
0.25 | CDAN1-R891C | het unknown | 0.246 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: 0.914 (probably damaging), Testable gene in GeneTests with associated GeneReview |
0.25 | CDAN1-Q596R | het unknown | 0.498 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
0.25 | CDAN1-Q107L | het unknown | 0.175 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
0.25 | TTBK2-L8P | het unknown | 0.560 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
0.25 | ATXN1-P753S | het unknown | 0.107 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
0.25 | NIPAL4-R213G | het unknown | 0.505 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.001 (benign), Testable gene in GeneTests with associated GeneReview |
0.25 | KIF6-W719R | het unknown | 0.538 | Unknown pharmacogenetic | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: 0.01 (benign) |
0.25 | PAPLN-S33G | het unknown | 0.239 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
0.25 | PAPLN-C120Shift | het unknown | Unknown | Insufficiently evaluated | Prioritization score: 2 Frameshift | |
0.25 | PAPLN-H601R | het unknown | 0.042 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: Unknown |
0.25 | PAPLN-M666R | homozygous | 0.516 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
0.25 | PAPLN-R901G | het unknown | Unknown | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: Unknown | |
0.25 | PAPLN-R1166Q | het unknown | Unknown | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: Unknown | |
0.25 | PAPLN-T1174M | het unknown | 0.104 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
0.25 | ATXN3-V212M | het unknown | 0.358 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
0.25 | NHLRC1-P111L | het unknown | 0.250 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: 0.992 (probably damaging), Testable gene in GeneTests with associated GeneReview |
0.25 | SERPINA1-V237A | het unknown | 0.293 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
0 | CLEC7A-Y238* | het unknown | 0.043 | Recessive pathogenic | Low clinical importance, uncertain | This variant has been found to impair homan mucosal antifungal defense and was implicated in vulvovaginal candidiasis and mucocutaneous infections in a Dutch family. |
0 | GUCY2D-P701S | het unknown | 0.096 | Recessive pathogenic | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.183 (benign), Testable gene in GeneTests with associated GeneReview |
Input file format: CGIVAR
Genome build: b37
Genome coverage: 2,738,087,861 bases (96.7% of callable positions, 90.6% of total positions)
Coding region coverage: 32,806,251 bases (98.8% of all genes, 99.3% 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