Variant report for huA90CE6
- Data source: CGI sample GS000006909
- This report: evidence.pgp-hms.org/genomes?c5c0c15780de720964e0c2ee195c8afbaeff0dc7
- Person ID: huA90CE6
- public profile: my.pgp-hms.org/profile/huA90CE6
- Download: source data, dbSNP and nsSNP report (122 MB)
- Processing status: processing
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Log file:
Row number | Variant | Clinical Importance | Evidence | Impact | Allele freq | Summary | Sufficient |
---|---|---|---|---|---|---|---|
1 | JAK2-V617F | High | Well-established | Well-established pathogenic Dominant, Heterozygous | 0.000278914 | This well known variant is associated with myeloproliferative diseases: it is used as a diagnostic, providing supporting evidence in individuals who already have symptoms. It is seen as an acquired (not inherited) mutation, one of an accumulation of changes that leads to the development of these cancer-like diseases. It is possible to see this variant in whole genome data or genotyping from blood-derived DNA -- but it is unclear how to view the presence of the variant in individuals who don't have symptoms of the disease. Data from Nielsen et al. suggests that such carriers are at much higher risk of developing myeloproliferative disease or other blood cancer (with roughly 50% of still-living individuals developing these diseases by around 10 years after initial samples -- but these numbers are _extremely_ uncertain). | 1 |
2 | APOE-C130R | High | Well-established | Well-established pathogenic Complex/Other, Heterozygous | 0.135392 | This is generally known as the ApoE4 allele of ApoE and is associated with increased risk of Alzheimer's. 20-25% of individuals are heterozygous for this variant, and 1-2% are homozygous. Data from Khachaturian et al. suggests an average 7% of all individuals developed Alzheimer's by the age of 80; when this is split by ApoE4 status: 10% of ApoE4 heterozygotes (3% increased attributable risk), 40% of ApoE4 homozygotes (33% increased attributable risk), and 5% of non-carriers (2% decreased attributable risk). Notably, their model suggests 70-75% of people would eventually develop Alzheimer's by the age of 100 regardless of ApoE4 genotype (and 25-30% are resistant, regardless of genotype), but that ApoE4 variants shift the disease onset to occur significantly earlier (4 years earlier for heterozygous carriers, 13 years for homozygotes). | 1 |
3 | C3-R102G | Moderate | Likely | Likely pathogenic Complex/Other, Heterozygous | 0.152073 | This variant (also called C3F) is common in Europeans (10.2% allele frequency), and is associated with age-related macular degeneration. In the US, 1.5% of adults over 40 have the disease, but the incidence increases strongly with age (>15% in women over 80). Assuming an average lifetime risk of ~10%, heterozygous individuals have a ~13% risk and homozygous have ~20%. | 1 |
4 | PPARG-P12A | Moderate | Uncertain | Uncertain not reviewed Unknown, Heterozygous | 0.0886782 | 1 | |
5 | DRD2-S311C | Low | Likely | Likely pathogenic Dominant, Homozygous | 0.0168247 | Various studies report this variant in a dopamine receptor is associated with increased risk for schizophrenia. Assuming an average 1% chance of schizophrenia in the general population, combined data suggests carriers of this variant have a risk of 1.4% (0.4% increased risk above average). | 1 |
6 | AMPD1-Q12X | Low | Likely | Likely pathogenic Recessive, Carrier (Heterozygous) | 0.0930643 | Causes Adenosine Deaminase Deficiency in a recessive manner. Most of the time individuals do not report symptoms, but when symptoms do exist they to be post-exercise symptoms of muscle weakness, muscle pain, and getting tired more quickly. | 1 |
7 | RET-R982C | Low | Uncertain | Uncertain pathogenic Dominant, Heterozygous | 0.016174 | Initially suspected of causing Hirschsprung’s disease, this rare variant has been later reported as present in unaffected controls (allele frequency around 1%). Supporting a lack of effect: Panini et al. did not find loss of function effects seen in other variants, and Svensson et al. report unaffected relatives in a family who carried the same variant. OMIM lists it as reported to cause increased susceptibility, but there do not appear to be any statistically significant reports supporting this hypothesis. | 1 |
8 | RNASEL-R462Q | Low | Uncertain | Uncertain pathogenic Complex/Other, Heterozygous | 0.278026 | Associated with increased risk of prostate cancer in individuals who already have a family history of prostate cancer, but studies have been unable to replicate this finding in sporadic (non-familial) prostate cancer cases. | 1 |
9 | TP53-P72R | Low | Uncertain | Uncertain pathogenic Unknown, Heterozygous | 0.627743 | This is a common variant was first reported as a polymorphism. It has since had mixed associations with cancer: Storey et al. conclude a 7x *increased* risk of HPV cancer for homozygotes vs hets, but Jones et al. find a 1.98x *decreased* risk for colorectal cancer. This variant may have significant impact on particular cancers, but it is unclear what effect it has on the overall burden of cancer. | 1 |
10 | WFS1-R611H | Low | Uncertain | Uncertain not reviewed Recessive, Carrier (Heterozygous) | 0.400446 | This nonsynonymous SNP is associated with Wolfram Syndrome (known as DIDMOAD), which is characterized by early-onset non-autoimmune diabetes mellitus, diabetes insipidus, optic atrophy, and deafness) and to adult Type Two Diabetes Mellitus. The WFS1 gene maps to chromosome 4p16.3. The variant has been shown to be statistically associated with type II diabetes in six UK studies and one study of Ashkenazi Jews (Sandhu, M., et al., Minton et al.). | 1 |
11 | CPN1-G178D | Low | Uncertain | Uncertain pathogenic Recessive, Carrier (Heterozygous) | 0.0356014 | This rare variant (around 1% allele frequency) is hypothesized to cause carboxypeptidase N deficiency in a recessive manner, especially if combined with a more severe variant. However the findings lack statistical sigificance: only a single case study of an affected individual links this variant to causing the disease. There aren’t any follow-up in vitro studies testing whether this variant affects protein function. | 1 |
12 | PRODH-L289M | Low | Uncertain | Uncertain pathogenic Unknown, Heterozygous | 0.00436884 | One report suggested that this rare variant (0.9% allele frequency) could be associated with hyperprolinemia and, through this, associated with increased susceptibility to schizophrenia and/or schizoaffective disorder. However, this finding completely lacked statistical significance, and both reported cases were also associated with other potentially causal variants. A later functional study found only a mild functional effect on enzyme activity (78-90% of wildtype activity). | 1 |
13 | HFE-H63D | Low | Uncertain | Uncertain pathogenic Recessive, Carrier (Heterozygous) | 0.109965 | There have been some hypotheses that this variant contributes to causing hereditary hemochromatosis, possibly as a compound heterozygote, but some others treat it as a polymorphism. Cys282Tyr is the classic causal variant and itself has very low penetrance. Mouse studies indicates this variant has a similar but weaker effect; if it has any effect at all its penetrance may be quite low and/or require modifier alleles. | 1 |
14 | SP110-L425S | Low | Uncertain | Uncertain pathogenic Unknown, Homozygous | 0.863357 | This variant is associated with a slightly increased risk of tuberculosis. It is unclear whether it is itself causal, or in linkage disequilibrium with some other causal variant that has a stronger effect. | 1 |
15 | ERCC6-R1213G | Low | Uncertain | Uncertain pathogenic Recessive, Carrier (Heterozygous) | 0.196877 | When homozygous, this variant may cause Cockayne Syndrome, which is a severe autosomal-recessive disorder characterized by abnormal early growth and development, abnormal sensitivity to sunlight, and premature aging. Cockayne Syndrome Type I and Type II lead to death in early childhood. Several other variants in the ERCC6 gene are linked to Cockayne Syndrome. This variant may also be linked to age-related macular degeneration like other ERCC6 variants, and has been linked to colorectal cancer in one study. | 1 |
16 | ADRB2-T164I | Low | Uncertain | Uncertain pharmacogenetic Unknown, Heterozygous | 0.0109686 | This rare variant in β2-Adrenoceptor has only reported heterozygously (in 2-4% of the population) and strongly decreases the protein’s responsiveness to inducing compounds (agonists). Carriers of this variant are less sensitive to induction of increased heart rate, heart contraction, and vasodilation by β-AR agonists. Mixed data suggests that this variant does not have a significant impact on hypertension or heart disease. It may affect responsiveness to beta blocker drugs. | 1 |
17 | FUT2-W154X | Moderate | Well-established | Well-established protective Recessive, Homozygous | 0.490519 | This recessive protective variant confers resistance to norovirus (which causes stomach flu). 20% of Caucasians and Africans are homozygous for this variant and are "non-secretors": they do not express ABO blood type antigens in their saliva or mucosal surfaces. Most strains of norovirus bind to these antigens in the gut, and so this non-secretor status confers almost total resistantance to most types of norovirus. There are notable exceptions, some strains of norovirus bind a different target and are equally infectious for secretors and non-secretors. | 1 |
18 | PRNP-M129V | Low | Well-established | Well-established protective Complex/Other, Homozygous | 0.339561 | This variant is associated with some protective effects for prion disease -- individuals homozygous for this variant are less susceptible to Creutzfeldt-Jakob, and Papua New Guinea individuals heterozygotes at this site are less susceptible to kuru. | 1 |
19 | 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 |
20 | NPC1-H215R | Low | Likely | Likely protective Complex/Other, Heterozygous | 0.295687 | This variant is associated with a reduced risk of obesity, with an additive effect of -0.084 BMI per allele (an average of 0.54 pounds less, per allele, in a 5'6" individual). | 1 |
21 | IL7R-T244I | Low | Likely | Likely protective Unknown, Heterozygous | 0.210169 | The reference genome variant for this allele has been associated with a slight increased risk of multiple sclerosis. Thus, this variant can be treated as a "protective" variant -- carriers of this variant are slightly less likely to have MS. Because the disease is rare and the effect of this variant is not very strong, the absolute decreased risk for carriers of this variant is less than .05% (less than 1 in 2000). | 1 |
22 | 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 |
23 | LPL-S474X | Low | Uncertain | Uncertain protective Unknown, Homozygous | 0.0844953 | This variant actually increases LPL enzyme activity despite creating a termination codon (see Rip J et al). It appears to be a protective variant, associated with lower triglyceride levels--although the effect is quite weak and explains only 0.5-1% of triglyceride variation. | 1 |
24 | ARSA-N350S | Low | Well-established | Well-established benign Unknown, Heterozygous | 0.183199 | This common variant (HapMap 24.1% allele frequency) causes a loss of a glycosylation site (affecting the size of the protein when studied with gel electrophoresis) but does not affect enzyme activity or stability. | 1 |
25 | EFHC1-R182H | Low | Likely | Likely benign Unknown, Heterozygous | 0.0439673 | Probably benign. OMIM appears to incorrectly interpret literature as linking this variant to juvenile myoclonic epilepsy; the authors report it as a polymorphism. | 1 |
26 | OCA2-R419Q | Low | Likely | Likely benign Unknown, Heterozygous | 0.0565161 | This variant is associated with eye color, as is OCA2 R305W. Individuals with this variant are reported to be more likely to have green/hazel eyes as opposed to blue/gray eyes. Other variants in this gene are associated with oculocutaneous albinism (albinism which involves skin and eyes). | 1 |
27 | FLT4-N149D | Low | Likely | Likely benign Unknown, Homozygous | 0.0725056 | Other severe variants in this gene are implicated in causing Milroy Disease (primary lymphedema) in a recessive manner. Although this variant is rare (2.3% allele frequency), it is still common enough that it is highly unlikely to have a severe, high penetrance pathogenic effect. | 1 |
28 | PMS2-P470S | Low | Likely | Likely benign Unknown, Heterozygous | 0.374884 | Benign, common variant. | 1 |
29 | FBN2-S2580L | Low | Uncertain | Uncertain benign Dominant, Heterozygous | 0.0779885 | Probably benign -- initially associated with congenital contractual arachnodactyly, but later reports classify it as a nonpathogenic polymorphism. | 1 |
30 | RPGRIP1-A547S | Low | Uncertain | Uncertain benign Complex/Other, Heterozygous | 0.232202 | Probably benign. Implicated in causing autosomal recessive cone-rod dystrophy, but a later report found the same incidence in controls and concludes it is not causal. | 1 |
31 | AARS-K967M | Low | Uncertain | Uncertain benign Unknown, Heterozygous | 0.0107827 | Tentatively presumed benign because seen in a healthy PGP participant. A damaging effect to the gene is predicted by Polyphen 2 and other variants are reported to cause Chacot-Marie-Tooth neuropathy in a dominant manner. | 1 |
32 | DYNC2H1-Q304L | Low | Uncertain | Uncertain benign Unknown, Heterozygous | 0.0484135 | Presumed benign. | 1 |
33 | COL7A1-P1277L | Low | Uncertain | Uncertain benign Unknown, Heterozygous | 0.0407139 | Polymorphism, presumed benign. | 1 |
34 | RPGRIP1L-A1183G | Low | Uncertain | Uncertain benign Unknown, Heterozygous | 0.0111545 | Probably not pathogenic, although it may have a modifier effect in other diseases. Other disruptive variants in this gene are implicated in causing Joubert Syndrome and Meckel Syndrome in a recessive manner. Although this variant is somewhat rare (1.1% allele frequency) and Polyphen 2 predicts it to be disruptive, most reported disease-causing variants in the gene are more disruptive frameshift or nonsense mutations & occur upstream of this position. | 1 |
35 | PKP2-L366P | Low | Uncertain | Uncertain benign Unknown, Heterozygous | 0.221231 | This variant is a benign polymorphism. | 1 |
36 | RELN-G1280E | Low | Uncertain | Uncertain benign Unknown, Heterozygous | 0.0112474 | Probably benign. | 1 |
37 | PCCA-I475V | Low | Uncertain | Uncertain benign Unknown, Heterozygous | 0.0377394 | Reported as a polymorphism, tentatively presumed benign. | 1 |
38 | AMPD1-P48L | Low | Uncertain | Uncertain benign Unknown, Heterozygous | 0.0940695 | Probably benign, ancestral to15173240 pathogenic Q12X mutation. | 1 |
39 | RP1-N985Y | Low | Uncertain | Uncertain benign Unknown, Homozygous | 0.348671 | Probably benign. One report linked this variant to high triglycerides, but a later paper found a nearby SNP with similar association and suggests that both findings are caused by linkage to an undiscovered causal variant. | 1 |
40 | 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 |
41 | 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 |
42 | 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 |
43 | 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 |
44 | PCSK9-G670E | Low | Uncertain | Uncertain benign Unknown, Homozygous | 0.888269 | This variant is likely benign. | 1 |
45 | CD19-R514H | Low | Uncertain | Uncertain benign Unknown, Heterozygous | 0.0482432 | Presumed benign. | 1 |
46 | APOB-Y1422C | Low | Uncertain | Uncertain benign Unknown, Homozygous | 0.999628 | This position is almost certainly an error in the HG18 reference sequence. | 1 |
47 | PTCH1-P1315L | Low | Uncertain | Uncertain benign Unknown, Heterozygous | 0.29631 | Common polymorphism, presumed benign. | 1 |
Row number | Variant | Prioritization score | Allele freq | Num of articles | Zygosity and Prioritization Score Reasons | Sufficient |
---|
Exome coverage: 32561420 / 33282720 = 97.83%
Row number | Gene | Chromosome | Coverage | Missing | Length | Missing regions |
---|---|---|---|---|---|---|
1 | AGRN | 1 | 0.9048550016292 | 584 | 6138 | 955553-955753, 976215-976239, 976247-976253, 976260, 976554, 976558-976578, 976591-976606, 976610-976611, 976720, 976729, 976893, 977517-977532, 981781, 981820, 981852-981905, 981946-981954, 981977-981983, 981989-981990, 981993-982000, 982010-982011, 983392-983422, 983571-983745, 985417 |
2 | GABRD | 1 | 0.94996320824135 | 68 | 1359 | 1950863-1950930 |
3 | PEX10 | 1 | 0.98063200815494 | 19 | 981 | 2337923, 2340200, 2343925-2343941 |
4 | ESPN | 1 | 0.67485380116959 | 834 | 2565 | 6485016-6485160, 6485199, 6485205-6485221, 6485232-6485233, 6485259-6485263, 6485268, 6485274-6485283, 6488322-6488336, 6488378-6488392, 6500413-6500432, 6500447-6500475, 6500686-6500868, 6500994, 6501035-6501065, 6505776-6505798, 6505838-6505864, 6505876-6505877, 6505881, 6508701-6508715, 6508725-6508766, 6508787, 6508799-6508859, 6508879-6509064, 6509098 |
5 | PLEKHG5 | 1 | 0.95421762307934 | 146 | 3189 | 6529699, 6529702, 6533412, 6534099-6534101, 6534106, 6534110, 6534122, 6534136-6534137, 6534149, 6534152, 6534195-6534224, 6534513-6534606, 6534634, 6534642-6534645, 6557380-6557383 |
6 | KIF1B | 1 | 0.99962356484096 | 2 | 5313 | 10425584-10425585 |
7 | TARDBP | 1 | 0.97831325301205 | 27 | 1245 | 11082339-11082345, 11082519-11082538 |
8 | MASP2 | 1 | 0.99951479864144 | 1 | 2061 | 11094885 |
9 | PLOD1 | 1 | 0.99771062271062 | 5 | 2184 | 11994840, 11994858-11994861 |
10 | CLCNKA | 1 | 0.99515503875969 | 10 | 2064 | 16358760-16358762, 16360141-16360147 |
11 | CLCNKB | 1 | 0.99660852713178 | 7 | 2064 | 16383399-16383405 |
12 | ATP13A2 | 1 | 0.98447643240192 | 55 | 3543 | 17313587-17313616, 17320272-17320287, 17322608, 17322611-17322618 |
13 | ALDH4A1 | 1 | 0.99940898345154 | 1 | 1692 | 19229016 |
14 | PINK1 | 1 | 0.79725085910653 | 354 | 1746 | 20960042-20960113, 20960115-20960126, 20960134-20960142, 20960148, 20960150-20960167, 20960187-20960428 |
15 | ALPL | 1 | 0.99873015873016 | 2 | 1575 | 21896842, 21903877 |
16 | HSPG2 | 1 | 0.99415604128719 | 77 | 13176 | 22165431, 22178110-22178113, 22181445-22181450, 22181457, 22181461, 22199142, 22263648-22263710 |
17 | WNT4 | 1 | 0.92708333333333 | 77 | 1056 | 22469339-22469415 |
18 | HMGCL | 1 | 0.99897750511247 | 1 | 978 | 24134721 |
19 | LDLRAP1 | 1 | 0.90507011866235 | 88 | 927 | 25870190-25870277 |
20 | SEPN1 | 1 | 0.89028776978417 | 183 | 1668 | 26126722-26126904 |
21 | COL9A2 | 1 | 0.9975845410628 | 5 | 2070 | 40782859-40782863 |
22 | KCNQ4 | 1 | 0.91714559386973 | 173 | 2088 | 41249766-41249914, 41249924-41249927, 41249981-41249982, 41249988-41249989, 41249996-41249998, 41284193-41284199, 41284276-41284279, 41303984, 41303989 |
23 | LEPRE1 | 1 | 0.99728629579376 | 6 | 2211 | 43232332-43232336, 43232503 |
24 | MPL | 1 | 0.99737945492662 | 5 | 1908 | 43814977-43814978, 43818344, 43818355-43818356 |
25 | MUTYH | 1 | 0.9993626513703 | 1 | 1569 | 45797217 |
26 | POMGNT1 | 1 | 0.99949571356531 | 1 | 1983 | 46662505 |
27 | DHCR24 | 1 | 0.97227595099936 | 43 | 1551 | 55352582-55352586, 55352593-55352613, 55352729, 55352745-55352758, 55352772, 55352775 |
28 | PCSK9 | 1 | 0.99182299182299 | 17 | 2079 | 55505546-55505549, 55505557-55505563, 55505572-55505577 |
29 | ALG6 | 1 | 0.99934640522876 | 1 | 1530 | 63894653 |
30 | RPE65 | 1 | 0.99937578027466 | 1 | 1602 | 68904676 |
31 | GLMN | 1 | 0.99943977591036 | 1 | 1785 | 92755769 |
32 | RPL5 | 1 | 0.99888143176734 | 1 | 894 | 93307389 |
33 | DPYD | 1 | 0.9990253411306 | 3 | 3078 | 97564186, 97847985, 98060633 |
34 | AGL | 1 | 0.9997825614264 | 1 | 4599 | 100340811 |
35 | COL11A1 | 1 | 0.9736118746564 | 144 | 5457 | 103364222-103364236, 103364264-103364265, 103364269-103364293, 103364296-103364301, 103364313, 103364514-103364550, 103405911, 103405969-103405976, 103427760-103427763, 103435775-103435777, 103435791-103435793, 103435802-103435808, 103435817, 103435820, 103471818-103471833, 103471838, 103471850-103471858, 103474019-103474020, 103548507, 103548510 |
36 | GSTM1 | 1 | 0.2648401826484 | 483 | 657 | 110230496-110230531, 110230792-110230867, 110231295-110231318, 110231333, 110231670-110231751, 110231847-110231947, 110232893, 110232904-110232940, 110232947-110232988, 110233076-110233153, 110233182-110233186 |
37 | AMPD1 | 1 | 0.99019607843137 | 22 | 2244 | 115226964-115226985 |
38 | NGF | 1 | 0.99724517906336 | 2 | 726 | 115828721-115828722 |
39 | CASQ2 | 1 | 0.99666666666667 | 4 | 1200 | 116244033-116244035, 116269617 |
40 | NOTCH2 | 1 | 0.98840345199569 | 86 | 7416 | 120458264-120458266, 120539739-120539745, 120539778-120539784, 120539834-120539840, 120547962-120547968, 120548022-120548058, 120572582-120572588, 120612000-120612010 |
41 | PRPF3 | 1 | 0.99317738791423 | 14 | 2052 | 150307601-150307614 |
42 | FLG | 1 | 0.94017725258493 | 729 | 12186 | 152276164, 152276219-152276225, 152276279-152276285, 152276365-152276389, 152276441-152276462, 152276583, 152276616, 152276626-152276628, 152276668-152276674, 152276696-152276729, 152276758-152276785, 152276861-152276910, 152277000-152277038, 152277052-152277088, 152277392-152277410, 152277717, 152277881-152277887, 152278044-152278058, 152278431-152278437, 152278552-152278558, 152278665-152278693, 152278853-152278859, 152279016-152279022, 152279403-152279409, 152279524-152279530, 152280107-152280113, 152280347, 152280467-152280474, 152280570-152280617, 152280643-152280653, 152280685-152280688, 152280733-152280762, 152280788, 152280864, 152280891, 152280900, 152281225-152281231, 152281287-152281307, 152281621-152281649, 152281991, 152282054-152282100, 152283427-152283433, 152283568, 152283975, 152284149-152284155, 152284175-152284217, 152284266-152284272, 152284779-152284817, 152285134-152285140, 152285208-152285224, 152285999-152286005 |
43 | CHRNB2 | 1 | 0.99933730947647 | 1 | 1509 | 154544385 |
44 | PKLR | 1 | 0.99246376811594 | 13 | 1725 | 155269976-155269984, 155269987-155269989, 155269992 |
45 | LMNA | 1 | 0.98765432098765 | 7 | 567 | 156105752-156105758 |
46 | LMNA | 1 | 0.99649122807018 | 7 | 1995 | 156105752-156105758 |
47 | SEMA4A | 1 | 0.99606299212598 | 9 | 2286 | 156131137-156131138, 156131250, 156131254, 156146564-156146568 |
48 | NTRK1 | 1 | 0.99079882894187 | 22 | 2391 | 156830727, 156830763-156830772, 156830778-156830781, 156830816-156830822 |
49 | DDR2 | 1 | 0.99961059190031 | 1 | 2568 | 162688885 |
50 | TBX19 | 1 | 0.97847067557535 | 29 | 1347 | 168274313-168274341 |
51 | F5 | 1 | 0.9898127340824 | 68 | 6675 | 169510364-169510370, 169510377-169510434, 169510502, 169510515, 169510524 |
52 | NPHS2 | 1 | 0.99652777777778 | 4 | 1152 | 179544869, 179544963-179544965 |
53 | RNASEL | 1 | 0.99955076370171 | 1 | 2226 | 182555150 |
54 | HMCN1 | 1 | 0.99727939436953 | 46 | 16908 | 185897739-185897764, 185897779-185897793, 185969339-185969341, 185969349, 185969352 |
55 | PDC | 1 | 0.99730094466937 | 2 | 741 | 186418531, 186418554 |
56 | CDC73 | 1 | 0.99937343358396 | 1 | 1596 | 193111072 |
57 | CFH | 1 | 0.99134199134199 | 32 | 3696 | 196658716-196658725, 196658732-196658737, 196659316-196659319, 196659333, 196659342-196659343, 196659346, 196706788, 196716389-196716395 |
58 | CFHR1 | 1 | 0.98388721047331 | 16 | 993 | 196788998-196789005, 196797244, 196797289-196797295 |
59 | ASPM | 1 | 0.99865823270079 | 14 | 10434 | 197057522, 197112788-197112799, 197113148 |
60 | IRF6 | 1 | 0.99786324786325 | 3 | 1404 | 209969824-209969826 |
61 | USH2A | 1 | 0.99724517906336 | 43 | 15609 | 215914826, 215914852-215914879, 215916550, 215916561-215916563, 215916566-215916572, 215916677, 216251463, 216496877 |
62 | ADCK3 | 1 | 0.99845679012346 | 3 | 1944 | 227171934-227171936 |
63 | GJC2 | 1 | 0.68257575757576 | 419 | 1320 | 228345555, 228345561-228345570, 228345575-228345576, 228345581, 228345612, 228345618-228345621, 228345624-228345632, 228345637, 228345643-228345648, 228345652, 228345664-228345671, 228345674, 228345677-228345684, 228345757, 228345790-228345792, 228345805, 228345818-228345857, 228345898, 228345921-228345925, 228345999, 228346024-228346111, 228346123-228346130, 228346133-228346134, 228346149-228346151, 228346329, 228346345-228346347, 228346352-228346498, 228346517-228346529, 228346535-228346536, 228346597-228346642, 228346655 |
64 | ACTA1 | 1 | 0.98589065255732 | 16 | 1134 | 229567849-229567861, 229567908, 229567920, 229567927 |
65 | GNPAT | 1 | 0.9995105237396 | 1 | 2043 | 231403533 |
66 | LYST | 1 | 0.99359985972295 | 73 | 11406 | 235827328-235827331, 235840842-235840857, 235896808, 235896990-235896991, 235897814, 235897836-235897840, 235907348-235907377, 235944244, 235950500-235950501, 235952061, 235956855, 235967837-235967841, 235971920-235971923 |
67 | ACTN2 | 1 | 0.95791433891993 | 113 | 2685 | 236849974-236850062, 236850076-236850099 |
68 | MTR | 1 | 0.99868351764086 | 5 | 3798 | 237013719-237013720, 237058730-237058732 |
69 | RYR2 | 1 | 0.99496779388084 | 75 | 14904 | 237619945-237619946, 237656383, 237729971, 237791325, 237796912, 237821244-237821297, 237824123, 237881770, 237881774-237881778, 237881788-237881789, 237881799, 237942005-237942009 |
70 | FH | 1 | 0.99673842139596 | 5 | 1533 | 241663890, 241672043-241672044, 241680542, 241680545 |
71 | NET1 | 10 | 0.9927414852038 | 13 | 1791 | 5454748-5454760 |
72 | GATA3 | 10 | 0.99775280898876 | 3 | 1335 | 8100745-8100747 |
73 | CUBN | 10 | 0.99806843267108 | 21 | 10872 | 16962051-16962063, 17032436-17032437, 17085900, 17142052, 17142064-17142067 |
74 | PTF1A | 10 | 0.41033434650456 | 582 | 987 | 23481460-23481462, 23481474-23481482, 23481491-23481537, 23481548-23481553, 23481557-23481565, 23481576-23481585, 23481597, 23481608, 23481655-23482150 |
75 | MYO3A | 10 | 0.99505256648114 | 24 | 4851 | 26243923, 26243926-26243929, 26414329-26414347 |
76 | PDSS1 | 10 | 0.97035256410256 | 37 | 1248 | 26986722-26986745, 26986758-26986769, 26994268 |
77 | RET | 10 | 0.97787742899851 | 74 | 3345 | 43572707-43572779, 43595968 |
78 | ERCC6 | 10 | 0.99955377063811 | 2 | 4482 | 50740778-50740779 |
79 | CHAT | 10 | 0.92790387182911 | 162 | 2247 | 50822275-50822424, 50822430-50822432, 50822481, 50822484-50822486, 50830146-50830150 |
80 | PCDH15 | 10 | 0.99541518084564 | 27 | 5889 | 55782763, 55826605-55826611, 55892635-55892645, 55973750-55973752, 56138647, 56138662-56138664, 56138681 |
81 | EGR2 | 10 | 0.9916142557652 | 12 | 1431 | 64573336-64573337, 64573340, 64573501, 64573513, 64573525-64573527, 64573532-64573534, 64573539 |
82 | PCBD1 | 10 | 0.9968253968254 | 1 | 315 | 72648290 |
83 | CDH23 | 10 | 0.99612171837709 | 39 | 10056 | 73375311-73375312, 73537475-73537511 |
84 | VCL | 10 | 0.99765051395007 | 8 | 3405 | 75757966-75757967, 75758060-75758065 |
85 | LDB3 | 10 | 0.99862637362637 | 3 | 2184 | 88476089, 88476173, 88476179 |
86 | BMPR1A | 10 | 0.99937460913071 | 1 | 1599 | 88683146 |
87 | GLUD1 | 10 | 0.95766249254621 | 71 | 1677 | 88854456-88854526 |
88 | PTEN | 10 | 0.9950495049505 | 6 | 1212 | 89690803-89690806, 89720651-89720652 |
89 | LIPA | 10 | 0.99833333333333 | 2 | 1200 | 90974620-90974621 |
90 | HPS1 | 10 | 0.99810066476733 | 4 | 2106 | 100177374-100177376, 100177379 |
91 | HPS6 | 10 | 0.94286941580756 | 133 | 2328 | 103825232-103825244, 103825275, 103825289-103825293, 103825315, 103825319, 103825322-103825324, 103825349-103825356, 103825396-103825414, 103825434-103825474, 103825486, 103825490, 103825493, 103825496, 103825503, 103825684, 103825732-103825766 |
92 | SUFU | 10 | 0.95463917525773 | 66 | 1455 | 104263927-104263953, 104263962-104264000 |
93 | COL17A1 | 10 | 0.98954161103694 | 47 | 4494 | 105816815-105816861 |
94 | HABP2 | 10 | 0.99227569815805 | 13 | 1683 | 115341846-115341850, 115341861-115341868 |
95 | EMX2 | 10 | 0.96969696969697 | 23 | 759 | 119302841, 119302845-119302851, 119302855, 119302936-119302940, 119302945-119302950, 119302957, 119302960, 119302998 |
96 | BAG3 | 10 | 0.89409722222222 | 183 | 1728 | 121411188-121411359, 121411366-121411367, 121436752-121436755, 121436779-121436781, 121436791-121436792 |
97 | HTRA1 | 10 | 0.81704781704782 | 264 | 1443 | 124221169-124221399, 124221412-124221430, 124221460-124221465, 124221480-124221482, 124221502, 124221509-124221511, 124221599 |
98 | OAT | 10 | 0.99924242424242 | 1 | 1320 | 126097123 |
99 | TALDO1 | 11 | 0.99605522682446 | 4 | 1014 | 747552-747555 |
100 | SLC25A22 | 11 | 0.96399176954733 | 35 | 972 | 792607, 792614, 792635, 792639-792644, 792651-792654, 792660-792667, 792687, 792882-792890, 792940-792943 |
101 | PNPLA2 | 11 | 0.86996699669967 | 197 | 1515 | 819719-819905, 823998-824007 |
102 | CTSD | 11 | 0.95399515738499 | 57 | 1239 | 1775033-1775036, 1775294, 1775326-1775335, 1775360-1775368, 1785036-1785040, 1785062-1785089 |
103 | H19 | 11 | 0.99906629318394 | 1 | 1071 | 2017852 |
104 | IGF2 | 11 | 0.94936708860759 | 36 | 711 | 2161390-2161392, 2161405-2161410, 2161454-2161476, 2161491-2161493, 2161498 |
105 | TH | 11 | 0.98666666666667 | 21 | 1575 | 2187753-2187760, 2187764, 2187768-2187778, 2191989 |
106 | KCNQ1 | 11 | 0.88035450516987 | 243 | 2031 | 2466329-2466511, 2466526-2466579, 2466587, 2466590-2466591, 2466600, 2466645, 2466655 |
107 | CDKN1C | 11 | 0.50998948475289 | 466 | 951 | 2905900-2906301, 2906325, 2906329, 2906336, 2906339-2906355, 2906401, 2906404-2906415, 2906437-2906448, 2906451, 2906455-2906472 |
108 | HBD | 11 | 0.93243243243243 | 30 | 444 | 5255629-5255658 |
109 | SMPD1 | 11 | 0.99894514767932 | 2 | 1896 | 6411957, 6412766 |
110 | SBF2 | 11 | 0.98990990990991 | 56 | 5550 | 9838416, 10315562-10315616 |
111 | ABCC8 | 11 | 0.99894648124737 | 5 | 4746 | 17452427-17452428, 17452435-17452437 |
112 | USH1C | 11 | 0.94962962962963 | 136 | 2700 | 17531112-17531166, 17531170-17531175, 17531178, 17531247-17531286, 17531295, 17531298-17531309, 17531315-17531335 |
113 | ANO5 | 11 | 0.98869438366156 | 31 | 2742 | 22249063, 22276974-22276975, 22276980-22276986, 22276992-22276994, 22277000-22277010, 22277038-22277044 |
114 | WT1 | 11 | 0.88610038610039 | 177 | 1554 | 32456557, 32456572-32456577, 32456589-32456599, 32456602, 32456627, 32456640, 32456646-32456653, 32456666-32456667, 32456672, 32456677-32456682, 32456688, 32456691-32456798, 32456800-32456805, 32456808-32456814, 32456827-32456842, 32456856 |
115 | PDHX | 11 | 0.99933598937583 | 1 | 1506 | 34991753 |
116 | RAG1 | 11 | 0.99616858237548 | 12 | 3132 | 36595040, 36595054-36595064 |
117 | SLC35C1 | 11 | 0.94602272727273 | 57 | 1056 | 45827607-45827634, 45827789-45827816, 45827836 |
118 | PEX16 | 11 | 0.99903938520653 | 1 | 1041 | 45935943 |
119 | RAPSN | 11 | 0.98708635996772 | 16 | 1239 | 47470445-47470460 |
120 | SERPING1 | 11 | 0.96606786427146 | 51 | 1503 | 57365744-57365787, 57381925-57381931 |
121 | GIF | 11 | 0.99362041467305 | 8 | 1254 | 59599226-59599233 |
122 | BEST1 | 11 | 0.99488054607509 | 9 | 1758 | 61723310, 61723313, 61730278-61730284 |
123 | ROM1 | 11 | 0.99337121212121 | 7 | 1056 | 62381337-62381343 |
124 | BSCL2 | 11 | 0.99712023038157 | 4 | 1389 | 62457914-62457915, 62457923, 62457934 |
125 | SLC22A12 | 11 | 0.99879663056558 | 2 | 1662 | 64367292, 64367296 |
126 | CST6 | 11 | 0.98444444444444 | 7 | 450 | 65780411-65780417 |
127 | BBS1 | 11 | 0.99887766554433 | 2 | 1782 | 66299432, 66299436 |
128 | SPTBN2 | 11 | 0.9995817649519 | 3 | 7173 | 66453479, 66455348, 66461302 |
129 | PC | 11 | 0.99575911789652 | 15 | 3537 | 66620082-66620095, 66633820 |
130 | AIP | 11 | 0.97079556898288 | 29 | 993 | 67257532-67257549, 67257568, 67257804, 67257812-67257819, 67257836 |
131 | NDUFV1 | 11 | 0.99068100358423 | 13 | 1395 | 67379899-67379908, 67379927-67379929 |
132 | TCIRG1 | 11 | 0.99959887685519 | 1 | 2493 | 67810168 |
133 | LRP5 | 11 | 0.98081683168317 | 93 | 4848 | 68080183-68080273, 68133161, 68216521 |
134 | DHCR7 | 11 | 0.99649859943978 | 5 | 1428 | 71146581-71146584, 71146596 |
135 | MYO7A | 11 | 0.9996991576414 | 2 | 6648 | 76922283, 76922295 |
136 | FZD4 | 11 | 0.99938042131351 | 1 | 1614 | 86666109 |
137 | DYNC2H1 | 11 | 0.99042101197373 | 124 | 12945 | 102991497-102991498, 103029509, 103031669, 103043819-103043845, 103043922, 103043954, 103047160-103047163, 103049819, 103052515-103052525, 103062246-103062274, 103062311-103062312, 103062323, 103062334-103062338, 103062342-103062343, 103062989, 103062992, 103070846-103070858, 103106431, 103107159-103107171, 103182701-103182707 |
138 | ATM | 11 | 0.99531130738196 | 43 | 9171 | 108127027-108127034, 108127044-108127067, 108188197, 108196068, 108202176-108202184 |
139 | RDX | 11 | 0.98002283105023 | 35 | 1752 | 110108290-110108324 |
140 | ALG9 | 11 | 0.99291938997821 | 13 | 1836 | 111742126-111742138 |
141 | DLAT | 11 | 0.99897119341564 | 2 | 1944 | 111910018, 111910027 |
142 | APOA1 | 11 | 0.99129353233831 | 7 | 804 | 116706886-116706892 |
143 | ROBO3 | 11 | 0.99951934631098 | 2 | 4161 | 124745936-124745937 |
144 | WNK1 | 12 | 0.99944048118618 | 4 | 7149 | 863152, 863176, 994360, 1017087 |
145 | CACNA2D4 | 12 | 0.99912126537786 | 3 | 3414 | 1902901-1902903 |
146 | CACNA1C | 12 | 0.99878067367779 | 8 | 6561 | 2794934-2794940, 2797894 |
147 | VWF | 12 | 0.98969438521677 | 87 | 8442 | 6122730, 6125338-6125344, 6127597-6127603, 6127655-6127661, 6128064-6128079, 6128339-6128345, 6128449-6128451, 6131926-6131932, 6131955-6131982, 6132030, 6166105, 6166215, 6166218 |
148 | ATN1 | 12 | 0.99720123145816 | 10 | 3573 | 7045911, 7045914-7045916, 7045922-7045925, 7045931-7045932 |
149 | MGP | 12 | 0.99679487179487 | 1 | 312 | 15035928 |
150 | GYS2 | 12 | 0.99810606060606 | 4 | 2112 | 21712030-21712031, 21712047, 21716165 |
151 | ABCC9 | 12 | 0.99720430107527 | 13 | 4650 | 21998538, 21998568, 21998571, 22025619-22025623, 22063802, 22065998-22066000, 22068662 |
152 | KRAS | 12 | 0.99824561403509 | 1 | 570 | 25380283 |
153 | DNM1L | 12 | 0.99954771596563 | 1 | 2211 | 32866254 |
154 | KIF21A | 12 | 0.99819494584838 | 9 | 4986 | 39688272, 39701440-39701445, 39726733, 39761710 |
155 | LRRK2 | 12 | 0.99775843881857 | 17 | 7584 | 40646747, 40653367, 40671723-40671727, 40713873, 40722230, 40761521-40761528 |
156 | IRAK4 | 12 | 0.99493853940709 | 7 | 1383 | 44171474, 44171492-44171497 |
157 | COL2A1 | 12 | 0.99193548387097 | 36 | 4464 | 48398050-48398085 |
158 | MLL2 | 12 | 0.99223546406645 | 129 | 16614 | 49419965-49419968, 49420597-49420600, 49424167, 49424172-49424173, 49426658, 49426672, 49426675, 49426730-49426732, 49426781-49426783, 49426787, 49426794-49426795, 49426836-49426872, 49426890, 49427013, 49427026-49427030, 49427041-49427046, 49427050, 49427053-49427054, 49427057, 49427060, 49427066-49427073, 49427078, 49427236-49427242, 49427260-49427277, 49427282, 49427288, 49427319-49427324, 49427640, 49431313, 49433269-49433274, 49433382 |
159 | DHH | 12 | 0.99160369437448 | 10 | 1191 | 49483711, 49483714, 49483740-49483741, 49483750, 49483767, 49483845-49483848 |
160 | KRT81 | 12 | 0.99472990777339 | 8 | 1518 | 52684021-52684027, 52685214 |
161 | KRT86 | 12 | 0.97809719370294 | 32 | 1461 | 52695760-52695770, 52696927-52696933, 52699030-52699036, 52699489-52699495 |
162 | KRT6B | 12 | 0.96047197640118 | 67 | 1695 | 52844243, 52844246, 52844265, 52844378-52844395, 52845528-52845534, 52845598-52845604, 52845662-52845686, 52845798-52845804 |
163 | KRT6C | 12 | 0.93982300884956 | 102 | 1695 | 52863657, 52865900-52865928, 52866040-52866043, 52866047-52866049, 52866060, 52867091-52867108, 52867187-52867193, 52867257-52867263, 52867321-52867345, 52867457-52867463 |
164 | KRT6A | 12 | 0.97109144542773 | 49 | 1695 | 52886532-52886559, 52886638-52886644, 52886772-52886778, 52886908-52886914 |
165 | KRT5 | 12 | 0.98702763677383 | 23 | 1773 | 52908768, 52908887-52908907, 52908917 |
166 | KRT1 | 12 | 0.98811369509044 | 23 | 1935 | 53069223-53069243, 53072489-53072490 |
167 | CYP27B1 | 12 | 0.99934512115259 | 1 | 1527 | 58157496 |
168 | GNS | 12 | 0.98915009041591 | 18 | 1659 | 65141655, 65141666-65141681, 65153022 |
169 | LEMD3 | 12 | 0.99853801169591 | 4 | 2736 | 65609790, 65612349, 65612391, 65637178 |
170 | CEP290 | 12 | 0.99502688172043 | 37 | 7440 | 88448182-88448187, 88462346-88462358, 88496657, 88496660-88496661, 88502873, 88505578-88505580, 88505587-88505589, 88508335, 88514016-88514019, 88519090, 88519093-88519094 |
171 | TMPO | 12 | 0.99808153477218 | 4 | 2085 | 98909904-98909906, 98925569 |
172 | SLC17A8 | 12 | 0.99491525423729 | 9 | 1770 | 100774560, 100797894-100797899, 100797903, 100797910 |
173 | TRPV4 | 12 | 0.99961773700306 | 1 | 2616 | 110236716 |
174 | ATXN2 | 12 | 0.84271943176053 | 620 | 3942 | 112036606-112036841, 112036850-112037233 |
175 | SDS | 12 | 0.98784194528875 | 12 | 987 | 113835143-113835154 |
176 | TBX5 | 12 | 0.99871547848426 | 2 | 1557 | 114793631-114793632 |
177 | TBX3 | 12 | 0.99820788530466 | 4 | 2232 | 115112054-115112057 |
178 | HNF1A | 12 | 0.99789029535865 | 4 | 1896 | 121438928-121438931 |
179 | EIF2B1 | 12 | 0.99782135076253 | 2 | 918 | 124116915-124116916 |
180 | PUS1 | 12 | 0.95327102803738 | 60 | 1284 | 132414279-132414288, 132414310-132414341, 132414462, 132414494-132414496, 132414508, 132414522-132414525, 132426004-132426009, 132426015-132426017 |
181 | SGCG | 13 | 0.99543378995434 | 4 | 876 | 23808845-23808848 |
182 | SACS | 13 | 0.99970887918486 | 4 | 13740 | 23908429, 23939323, 23949385-23949386 |
183 | PDX1 | 13 | 0.98591549295775 | 12 | 852 | 28498393, 28498427-28498428, 28498434, 28498439, 28498612-28498615, 28498700-28498702 |
184 | B3GALTL | 13 | 0.95323981295925 | 70 | 1497 | 31774222-31774291 |
185 | BRCA2 | 13 | 0.99834259530077 | 17 | 10257 | 32903628, 32954019-32954034 |
186 | SPG20 | 13 | 0.99950024987506 | 1 | 2001 | 36878617 |
187 | FREM2 | 13 | 0.99978969505783 | 2 | 9510 | 39261911, 39425833 |
188 | SLC25A15 | 13 | 0.99227373068433 | 7 | 906 | 41373287-41373293 |
189 | SUCLA2 | 13 | 0.97988505747126 | 28 | 1392 | 48528348-48528357, 48542832, 48547467, 48547471, 48547481-48547490, 48571054-48571057, 48571060 |
190 | RB1 | 13 | 0.9956942949408 | 12 | 2787 | 48934153-48934159, 48947586, 49051514-49051516, 49051535 |
191 | ATP7B | 13 | 0.99954524783993 | 2 | 4398 | 52508963, 52548088 |
192 | SLITRK1 | 13 | 0.99952175992348 | 1 | 2091 | 84453797 |
193 | ZIC2 | 13 | 0.64165103189493 | 573 | 1599 | 100634319-100634543, 100634554-100634557, 100634559, 100634564, 100634568-100634573, 100634579-100634583, 100634599-100634602, 100634611-100634617, 100634625-100634641, 100634659, 100634664-100634715, 100634718, 100634743, 100634748-100634749, 100634752, 100634791-100634792, 100634798, 100634803, 100634831, 100634914-100634915, 100635004-100635040, 100635051-100635057, 100637644-100637646, 100637711, 100637715-100637860, 100637868, 100637876-100637877, 100637883-100637889, 100637894-100637905, 100637911-100637932 |
194 | PCCA | 13 | 0.99725651577503 | 6 | 2187 | 100915073-100915076, 100925497-100925498 |
195 | ERCC5 | 13 | 0.99929228591649 | 3 | 4239 | 103460059, 103460062-103460063 |
196 | COL4A1 | 13 | 0.9998003992016 | 1 | 5010 | 110864266 |
197 | F7 | 13 | 0.99925093632959 | 1 | 1335 | 113765048 |
198 | F10 | 13 | 0.99931833674165 | 1 | 1467 | 113777185 |
199 | GRK1 | 13 | 0.98699763593381 | 22 | 1692 | 114321808-114321829 |
200 | TEP1 | 14 | 0.99543378995434 | 36 | 7884 | 20841502-20841521, 20851763, 20851766-20851771, 20854734-20854735, 20854745, 20859859-20859864 |
201 | SLC7A7 | 14 | 0.99674479166667 | 5 | 1536 | 23282121-23282125 |
202 | PABPN1 | 14 | 0.69923995656895 | 277 | 921 | 23790681-23790684, 23790689-23790701, 23790711-23790722, 23790739-23790748, 23790755, 23790766-23790777, 23790782-23790797, 23790814-23790819, 23790827-23791029 |
203 | MYH6 | 14 | 0.99982817869416 | 1 | 5820 | 23852451 |
204 | MYH7 | 14 | 0.9974173553719 | 15 | 5808 | 23885474-23885480, 23887565, 23889395-23889401 |
205 | NRL | 14 | 0.88235294117647 | 84 | 714 | 24550609-24550621, 24550631, 24550640-24550641, 24550644-24550647, 24550656-24550683, 24550691-24550726 |
206 | FOXG1 | 14 | 0.67959183673469 | 471 | 1470 | 29236486-29236956 |
207 | CFL2 | 14 | 0.9940119760479 | 3 | 501 | 35183744-35183746 |
208 | NKX2-1 | 14 | 0.9195688225539 | 97 | 1206 | 36986594-36986595, 36986709-36986748, 36986762-36986770, 36986774, 36986785-36986795, 36986831, 36986845, 36986850-36986855, 36986858-36986860, 36986863-36986872, 36986875, 36986879-36986887, 36986894, 36986897, 36986919 |
209 | PAX9 | 14 | 0.99805068226121 | 2 | 1026 | 37132410-37132411 |
210 | FANCM | 14 | 0.9930047177485 | 43 | 6147 | 45623935-45623973, 45636253, 45667847, 45667855, 45669145 |
211 | C14orf104 | 14 | 0.97732696897375 | 57 | 2514 | 50100936-50100942, 50100956-50100996, 50101082-50101090 |
212 | L2HGDH | 14 | 0.99137931034483 | 12 | 1392 | 50713900-50713906, 50745253-50745255, 50745263-50745264 |
213 | ATL1 | 14 | 0.99939831528279 | 1 | 1662 | 51089908 |
214 | GCH1 | 14 | 0.96281540504648 | 28 | 753 | 55369260, 55369280, 55369289, 55369342-55369366 |
215 | SYNE2 | 14 | 0.9991314418066 | 18 | 20724 | 64522833-64522834, 64522843, 64522846, 64676823, 64685217-64685225, 64692116-64692118, 64692127 |
216 | ZFYVE26 | 14 | 0.99580052493438 | 32 | 7620 | 68229071-68229076, 68242688, 68274198-68274220, 68282649-68282650 |
217 | ESRRB | 14 | 0.98952193844139 | 16 | 1527 | 76964667, 76964670, 76964674, 76964677-76964682, 76964686, 76964695-76964699, 76964743 |
218 | POMT2 | 14 | 0.99201065246338 | 18 | 2253 | 77786870, 77786965-77786969, 77786972-77786975, 77786987, 77786991, 77786994-77786999 |
219 | GALC | 14 | 0.97862001943635 | 44 | 2058 | 88459381-88459396, 88459446-88459457, 88459464-88459479 |
220 | TTC8 | 14 | 0.99741602067183 | 4 | 1548 | 89307801-89307804 |
221 | ATXN3 | 14 | 0.98895027624309 | 12 | 1086 | 92537354-92537356, 92537360-92537366, 92537376, 92537382 |
222 | VRK1 | 14 | 0.9983207388749 | 2 | 1191 | 97304153-97304154 |
223 | AMN | 14 | 0.91042584434655 | 122 | 1362 | 103395509, 103396535, 103396539, 103396542, 103396551-103396660, 103396752, 103396785, 103396813, 103396816-103396819, 103396830 |
224 | INF2 | 14 | 0.91146666666667 | 332 | 3750 | 105173751-105173754, 105173758-105173773, 105173776-105173784, 105173856-105174130, 105174151-105174161, 105174265-105174270, 105174273-105174281, 105175989-105175990 |
225 | NIPA1 | 15 | 0.82020202020202 | 178 | 990 | 23086234-23086411 |
226 | UBE3A | 15 | 0.99847792998478 | 4 | 2628 | 25616930, 25616939-25616941 |
227 | OCA2 | 15 | 0.99960270162892 | 1 | 2517 | 28326957 |
228 | SLC12A6 | 15 | 0.98696785403997 | 45 | 3453 | 34549849-34549893 |
229 | CHST14 | 15 | 0.94252873563218 | 65 | 1131 | 40763418-40763421, 40763423-40763429, 40763436-40763448, 40763481, 40763492-40763498, 40763503-40763534, 40763537 |
230 | CDAN1 | 15 | 0.91476655808903 | 314 | 3684 | 43021454, 43028529-43028531, 43028562-43028566, 43028591-43028592, 43028718-43028719, 43028725-43028727, 43028733, 43028744, 43028749, 43028774-43028978, 43029211-43029300 |
231 | TTBK2 | 15 | 0.9954484605087 | 17 | 3735 | 43067851, 43103886-43103892, 43109272, 43109286-43109291, 43109294, 43120184 |
232 | STRC | 15 | 0.98948948948949 | 56 | 5328 | 43897544-43897551, 43910313-43910319, 43910863-43910903 |
233 | STRC | 15 | 0.99641025641026 | 7 | 1950 | 44009775-44009781 |
234 | GATM | 15 | 0.99528301886792 | 6 | 1272 | 45670613, 45670616-45670619, 45670629 |
235 | FBN1 | 15 | 0.99791086350975 | 18 | 8616 | 48737599-48737605, 48757809-48757815, 48766560-48766561, 48766775, 48936954 |
236 | CEP152 | 15 | 0.99274924471299 | 36 | 4965 | 49036438, 49036498-49036530, 49059576-49059577 |
237 | SCG3 | 15 | 0.99715707178394 | 4 | 1407 | 51975276-51975279 |
238 | RAB27A | 15 | 0.99399399399399 | 4 | 666 | 55516101-55516104 |
239 | PPIB | 15 | 0.98310291858679 | 11 | 651 | 64455115-64455123, 64455144, 64455147 |
240 | CLN6 | 15 | 0.92094017094017 | 74 | 936 | 68521849-68521922 |
241 | NR2E3 | 15 | 0.99909420289855 | 1 | 1104 | 72105815 |
242 | HCN4 | 15 | 0.84413067552602 | 563 | 3612 | 73614866-73614876, 73614886-73614890, 73615021-73615024, 73615104, 73615235, 73616189-73616190, 73624536, 73660074-73660611 |
243 | RPS17 | 15 | 0.9656862745098 | 14 | 408 | 82821272-82821278, 82823387-82823393 |
244 | RPS17 | 15 | 0.9656862745098 | 14 | 408 | 83205615-83205621, 83207730-83207736 |
245 | FANCI | 15 | 0.99949836970153 | 2 | 3987 | 89825003, 89836206 |
246 | POLG | 15 | 0.99220430107527 | 29 | 3720 | 89876836-89876864 |
247 | MESP2 | 15 | 0.97738693467337 | 27 | 1194 | 90320122-90320146, 90320149, 90320161 |
248 | BLM | 15 | 0.99905970850964 | 4 | 4254 | 91312718, 91337406-91337407, 91337582 |
249 | VPS33B | 15 | 0.99838187702265 | 3 | 1854 | 91542217-91542219 |
250 | IGF1R | 15 | 0.99878167641326 | 5 | 4104 | 99251214, 99251230, 99473517-99473519 |
251 | HBZ | 16 | 0.71561771561772 | 122 | 429 | 203952-203983, 203990-204028, 204041-204067, 204082, 204085-204086, 204091, 204271-204276, 204282-204285, 204302-204310, 204341 |
252 | HBM | 16 | 0.91784037558685 | 35 | 426 | 216308-216316, 216336-216359, 216422, 216436 |
253 | GNPTG | 16 | 0.99237472766885 | 7 | 918 | 1401984-1401990 |
254 | CLCN7 | 16 | 0.96650124069479 | 81 | 2418 | 1524835-1524897, 1524906-1524920, 1524932-1524934 |
255 | GFER | 16 | 0.64401294498382 | 220 | 618 | 2034220-2034384, 2034407-2034413, 2034421-2034464, 2034748-2034751 |
256 | TSC2 | 16 | 0.99889380530973 | 6 | 5424 | 2103396-2103401 |
257 | PKD1 | 16 | 0.92425650557621 | 978 | 12912 | 2140933, 2140938-2140940, 2140943, 2141105-2141107, 2141131-2141175, 2141424-2141464, 2141509-2141510, 2147186-2147196, 2147202-2147203, 2147939-2147967, 2149962-2149968, 2152086-2152092, 2152126-2152132, 2152384-2152391, 2153299-2153333, 2153437-2153443, 2153477-2153483, 2153592-2153598, 2153690, 2153721-2153736, 2153833-2153840, 2154570-2154576, 2154608-2154609, 2154626, 2155423-2155429, 2155984, 2156021, 2156120-2156126, 2156442-2156450, 2156520-2156526, 2156901-2156941, 2158746-2158752, 2159233, 2159480, 2159989-2159999, 2160460, 2160718-2160731, 2160944-2160976, 2161322, 2161790-2161830, 2162954-2162964, 2164490, 2164532-2164565, 2164808, 2166095-2166101, 2166835-2166845, 2167591-2167597, 2167871-2167878, 2167925-2167935, 2167961-2168000, 2168056-2168075, 2168132-2168174, 2168183-2168218, 2168362-2168421, 2168701-2168733, 2169376-2169379, 2185481-2185690 |
258 | ABCA3 | 16 | 0.99863147605083 | 7 | 5115 | 2334356, 2338066-2338067, 2354095-2354098 |
259 | CREBBP | 16 | 0.99181334424887 | 60 | 7329 | 3777771-3777774, 3778437, 3778447-3778450, 3778881, 3778977-3778980, 3778983, 3779172-3779174, 3779245, 3779263, 3779363-3779365, 3779378, 3828706, 3929840-3929841, 3929849, 3929852-3929857, 3929862, 3929881-3929891, 3929896, 3929900, 3929906-3929917 |
260 | GLIS2 | 16 | 0.99873015873016 | 2 | 1575 | 4386983, 4387353 |
261 | ALG1 | 16 | 0.96057347670251 | 55 | 1395 | 5128855-5128861, 5128867, 5130969-5130999, 5132654-5132662, 5134776-5134782 |
262 | MYH11 | 16 | 0.99983164983165 | 1 | 5940 | 15835736 |
263 | ABCC6 | 16 | 0.99246453900709 | 34 | 4512 | 16313412, 16315608, 16315645-16315676 |
264 | UMOD | 16 | 0.99895995839834 | 2 | 1923 | 20359864, 20360237 |
265 | OTOA | 16 | 0.99561403508772 | 15 | 3420 | 21742176-21742182, 21752068-21752075 |
266 | OTOA | 16 | 0.99196787148594 | 8 | 996 | 22568190-22568197 |
267 | TUFM | 16 | 0.99634502923977 | 5 | 1368 | 28857417, 28857558, 28857565-28857566, 28857571 |
268 | ATP2A1 | 16 | 0.99966733200266 | 1 | 3006 | 28911984 |
269 | PHKG2 | 16 | 0.92219492219492 | 95 | 1221 | 30760142-30760236 |
270 | FUS | 16 | 0.96457938013915 | 56 | 1581 | 31195269-31195285, 31195288-31195296, 31195302-31195323, 31195634, 31195684-31195687, 31195691-31195692, 31195717 |
271 | SLC5A2 | 16 | 0.99702823179792 | 6 | 2019 | 31500051, 31500056-31500059, 31500062 |
272 | PHKB | 16 | 0.99878123095673 | 4 | 3282 | 47694696-47694699 |
273 | CYLD | 16 | 0.99860237596087 | 4 | 2862 | 50811786-50811788, 50811801 |
274 | SALL1 | 16 | 0.99672955974843 | 13 | 3975 | 51175656-51175658, 51175663-51175672 |
275 | RPGRIP1L | 16 | 0.99974670719352 | 1 | 3948 | 53691435 |
276 | MMP2 | 16 | 0.98890569843671 | 22 | 1983 | 55513454, 55513460-55513462, 55513465-55513481, 55513485 |
277 | SLC12A3 | 16 | 0.99903006789525 | 3 | 3093 | 56921843, 56921847, 56921939 |
278 | HSD11B2 | 16 | 0.83825944170772 | 197 | 1218 | 67465152-67465328, 67465371, 67469974, 67469979, 67469988-67470004 |
279 | CDH1 | 16 | 0.99773499433749 | 6 | 2649 | 68771348-68771352, 68844215 |
280 | CIRH1A | 16 | 0.99951479864144 | 1 | 2061 | 69173756 |
281 | COG8 | 16 | 0.99401848830886 | 11 | 1839 | 69364803, 69373229-69373238 |
282 | GCSH | 16 | 0.99616858237548 | 2 | 522 | 81129813, 81129831 |
283 | GAN | 16 | 0.93478260869565 | 117 | 1794 | 81348719-81348736, 81348758-81348775, 81348786-81348795, 81348801-81348822, 81348829-81348848, 81348862-81348864, 81348867-81348885, 81388209-81388215 |
284 | MLYCD | 16 | 0.81511470985155 | 274 | 1482 | 83932750-83932920, 83932931-83932934, 83932939-83932940, 83932958, 83932964-83932968, 83932973-83932977, 83932984-83932986, 83932988-83932994, 83932996, 83933002-83933007, 83933038-83933039, 83933065-83933072, 83933080-83933122, 83933129-83933130, 83933141-83933142, 83933146-83933152, 83933163, 83933169-83933172 |
285 | FOXF1 | 16 | 0.98684210526316 | 15 | 1140 | 86544181-86544182, 86544191, 86544210-86544213, 86544217-86544220, 86544923-86544926 |
286 | FOXC2 | 16 | 0.70252324037185 | 448 | 1506 | 86601663-86601670, 86601679-86601686, 86601705, 86601721-86602150, 86602165 |
287 | JPH3 | 16 | 0.99599465954606 | 9 | 2247 | 87723327, 87723431-87723434, 87723561-87723562, 87723688, 87724006 |
288 | CYBA | 16 | 0.9234693877551 | 45 | 588 | 88709761-88709773, 88709803, 88709821, 88709824-88709825, 88709828, 88709833, 88709853-88709856, 88709865-88709866, 88709927-88709936, 88717364-88717373 |
289 | GALNS | 16 | 0.92351816443595 | 120 | 1569 | 88923166-88923285 |
290 | SPG7 | 16 | 0.98869346733668 | 27 | 2388 | 89574829-89574831, 89574835-89574858 |
291 | FANCA | 16 | 0.99931318681319 | 3 | 4368 | 89805051, 89837041, 89882968 |
292 | TUBB3 | 16 | 0.95787139689579 | 57 | 1353 | 89989810-89989866 |
293 | CHRNE | 17 | 0.99865047233468 | 2 | 1482 | 4802770, 4804430 |
294 | GP1BA | 17 | 0.99947916666667 | 1 | 1920 | 4837499 |
295 | PITPNM3 | 17 | 0.97880341880342 | 62 | 2925 | 6358699, 6358746-6358780, 6358793-6358802, 6358926-6358931, 6459717-6459726 |
296 | ACADVL | 17 | 0.9994918699187 | 1 | 1968 | 7127974 |
297 | CHRNB1 | 17 | 0.99136786188579 | 13 | 1506 | 7360015-7360027 |
298 | MPDU1 | 17 | 0.99193548387097 | 6 | 744 | 7490318, 7490527-7490530, 7490533 |
299 | GUCY2D | 17 | 0.94655797101449 | 177 | 3312 | 7906366-7906386, 7906409-7906481, 7906497-7906507, 7906518-7906524, 7906528, 7906531-7906534, 7906578-7906581, 7906597, 7906604, 7906610-7906614, 7906618, 7906638-7906678, 7906708, 7906711, 7906722, 7906766-7906769 |
300 | ALOX12B | 17 | 0.99952516619183 | 1 | 2106 | 7984486 |
301 | ALOXE3 | 17 | 0.99953183520599 | 1 | 2136 | 8013756 |
302 | HES7 | 17 | 0.85250737463127 | 100 | 678 | 8024889-8024914, 8024930-8024950, 8024973-8024974, 8024980-8024982, 8024987-8025001, 8025004, 8025008, 8025661-8025671, 8025676-8025685, 8025694-8025696, 8025709-8025712, 8025722, 8025727, 8025742 |
303 | MYH8 | 17 | 0.99879600963192 | 7 | 5814 | 10301929-10301935 |
304 | MYH2 | 17 | 0.9991417782355 | 5 | 5826 | 10446425-10446429 |
305 | COX10 | 17 | 0.99924924924925 | 1 | 1332 | 14095309 |
306 | PMP22 | 17 | 0.98343685300207 | 8 | 483 | 15164005-15164009, 15164012-15164014 |
307 | RAI1 | 17 | 0.99335780457962 | 38 | 5721 | 17696324-17696336, 17696396-17696398, 17696462, 17696485, 17697099-17697108, 17697619, 17698202-17698206, 17698859, 17700000-17700002 |
308 | ATPAF2 | 17 | 0.99195402298851 | 7 | 870 | 17942202-17942208 |
309 | MYO15A | 17 | 0.95176059662041 | 511 | 10593 | 18023748-18023752, 18024012-18024045, 18024130-18024236, 18024256-18024283, 18024310-18024311, 18024323-18024512, 18024523-18024526, 18024530-18024531, 18024570-18024628, 18024674-18024682, 18024705-18024743, 18024845, 18049320-18049323, 18049334-18049341, 18057089-18057092, 18057102, 18057105, 18057112, 18057116-18057123, 18057142, 18057152, 18057174, 18061142 |
310 | UNC119 | 17 | 0.80636237897649 | 140 | 723 | 26879362, 26879369-26879373, 26879379, 26879384-26879419, 26879428-26879434, 26879441-26879454, 26879456-26879529, 26879574-26879575 |
311 | SLC6A4 | 17 | 0.99947173798204 | 1 | 1893 | 28543206 |
312 | NF1 | 17 | 0.9924882629108 | 64 | 8520 | 29422328-29422343, 29422364-29422370, 29422376-29422387, 29486049, 29586146, 29654563-29654579, 29663393-29663402 |
313 | PEX12 | 17 | 0.9962962962963 | 4 | 1080 | 33904918-33904921 |
314 | KRT10 | 17 | 0.86780626780627 | 232 | 1755 | 38975096-38975154, 38975160-38975311, 38975326-38975339, 38975342-38975344, 38975365, 38975370, 38975400-38975401 |
315 | KRT9 | 17 | 0.99893162393162 | 2 | 1872 | 39728188, 39728192 |
316 | KRT14 | 17 | 0.95066948555321 | 70 | 1419 | 39738749-39738755, 39741304-39741309, 39742627-39742634, 39742645, 39742660, 39742829-39742872, 39742894, 39742898-39742899 |
317 | KRT16 | 17 | 0.92827004219409 | 102 | 1422 | 39766265-39766281, 39766631-39766637, 39768490-39768496, 39768658-39768664, 39768671-39768708, 39768721-39768746 |
318 | KRT17 | 17 | 0.98152424942263 | 24 | 1299 | 39777013, 39780465-39780471, 39780516-39780531 |
319 | JUP | 17 | 0.99687220732797 | 7 | 2238 | 39913929-39913935 |
320 | STAT5B | 17 | 0.98604060913706 | 33 | 2364 | 40371361-40371364, 40371367-40371394, 40371450 |
321 | NAGLU | 17 | 0.93906810035842 | 136 | 2232 | 40688374-40688381, 40688388, 40688395, 40688402-40688515, 40688531, 40688534-40688535, 40688546, 40688564-40688567, 40688615-40688618 |
322 | WNK4 | 17 | 0.9983922829582 | 6 | 3732 | 40939827-40939832 |
323 | SOST | 17 | 0.88785046728972 | 72 | 642 | 41832849-41832870, 41832877-41832926 |
324 | NAGS | 17 | 0.9595015576324 | 65 | 1605 | 42082036-42082042, 42082072-42082086, 42082115-42082149, 42082206, 42082225, 42082228, 42082235-42082239 |
325 | SLC4A1 | 17 | 0.99853801169591 | 4 | 2736 | 42328570-42328572, 42331891 |
326 | GRN | 17 | 0.97474747474747 | 45 | 1782 | 42429411, 42429546-42429565, 42429574, 42429577, 42429856, 42429912-42429927, 42429934, 42430074-42430076, 42430122 |
327 | ITGA2B | 17 | 0.99711538461538 | 9 | 3120 | 42452391-42452393, 42452402, 42460958-42460962 |
328 | WNT3 | 17 | 0.99906367041199 | 1 | 1068 | 44847265 |
329 | ITGB3 | 17 | 0.99070553443177 | 22 | 2367 | 45331237-45331257, 45376769 |
330 | SGCA | 17 | 0.98797250859107 | 14 | 1164 | 48247699-48247712 |
331 | COL1A1 | 17 | 0.99681456200228 | 14 | 4395 | 48276790-48276791, 48276794, 48276797-48276804, 48277145-48277147 |
332 | NOG | 17 | 0.9928469241774 | 5 | 699 | 54671622, 54671850-54671852, 54671913 |
333 | TRIM37 | 17 | 0.99136442141623 | 25 | 2895 | 57105901-57105905, 57105910, 57105915-57105922, 57105925, 57105937, 57119256, 57158514, 57158518-57158519, 57158522-57158524, 57168676, 57168685 |
334 | AP1S2 | 17 | 0.99519230769231 | 3 | 624 | 58179921-58179922, 58180079 |
335 | CA4 | 17 | 0.9989350372737 | 1 | 939 | 58235728 |
336 | TBX4 | 17 | 0.998778998779 | 2 | 1638 | 59533913-59533914 |
337 | ACE | 17 | 0.93547564396838 | 253 | 3921 | 61554456-61554704, 61574565, 61574583, 61574591, 61574600 |
338 | SCN4A | 17 | 0.99981854472872 | 1 | 5511 | 62038740 |
339 | POLG2 | 17 | 0.99931412894376 | 1 | 1458 | 62476480 |
340 | AXIN2 | 17 | 0.98973143759874 | 26 | 2532 | 63532988-63533008, 63533099, 63554542-63554545 |
341 | SOX9 | 17 | 0.97254901960784 | 42 | 1530 | 70120028-70120065, 70120068, 70120086-70120088 |
342 | COG1 | 17 | 0.98810737342847 | 35 | 2943 | 71189253-71189281, 71189308-71189312, 71189425 |
343 | USH1G | 17 | 0.9978354978355 | 3 | 1386 | 72916499-72916501 |
344 | TSEN54 | 17 | 0.91840607210626 | 129 | 1581 | 73512642-73512697, 73512878-73512938, 73512959-73512970 |
345 | ITGB4 | 17 | 0.99762296580728 | 13 | 5469 | 73736443-73736444, 73738788-73738790, 73749943-73749946, 73749949, 73749972, 73750019, 73751784 |
346 | GALK1 | 17 | 0.97201017811705 | 33 | 1179 | 73761116-73761141, 73761180, 73761183, 73761213-73761217 |
347 | UNC13D | 17 | 0.99480598838986 | 17 | 3273 | 73827381, 73832741-73832750, 73832760-73832764, 73832775 |
348 | SEPT9 | 17 | 0.91709256104486 | 146 | 1761 | 75398370, 75398767-75398774, 75488711, 75494605-75494740 |
349 | GAA | 17 | 0.99965022735222 | 1 | 2859 | 78086447 |
350 | SGSH | 17 | 0.95891318754142 | 62 | 1509 | 78194037-78194061, 78194076-78194112 |
351 | FSCN2 | 17 | 0.96348884381339 | 54 | 1479 | 79495741, 79495760, 79503955-79503959, 79504032-79504078 |
352 | AFG3L2 | 18 | 0.97577276524645 | 58 | 2394 | 12377010-12377022, 12377026-12377027, 12377033-12377043, 12377046-12377077 |
353 | NPC1 | 18 | 0.99869689861871 | 5 | 3837 | 21123479-21123482, 21166300 |
354 | LAMA3 | 18 | 0.99540091981604 | 46 | 10002 | 21269648-21269668, 21269690-21269691, 21269701-21269709, 21426366, 21441759-21441760, 21483936-21483938, 21484518-21484525 |
355 | DSC3 | 18 | 0.99814195466369 | 5 | 2691 | 28581704-28581705, 28622601-28622602, 28622606 |
356 | DSC2 | 18 | 0.99482631189948 | 14 | 2706 | 28681869-28681882 |
357 | DSG2 | 18 | 0.98957402442657 | 35 | 3357 | 29078217-29078225, 29078228, 29078232-29078256 |
358 | LOXHD1 | 18 | 0.99984930681133 | 1 | 6636 | 44126909 |
359 | MYO5B | 18 | 0.99332972778078 | 37 | 5547 | 47352944-47352980 |
360 | RAX | 18 | 0.93756003842459 | 65 | 1041 | 56936395, 56936402-56936411, 56936426, 56936431-56936433, 56936481-56936485, 56936501, 56936508-56936527, 56936533-56936537, 56936540, 56936563-56936564, 56936580-56936584, 56936589-56936599 |
361 | LMAN1 | 18 | 0.99739073711676 | 4 | 1533 | 57000412-57000413, 57000419-57000420 |
362 | CCBE1 | 18 | 0.995085995086 | 6 | 1221 | 57134034, 57134048-57134050, 57134058-57134059 |
363 | TNFRSF11A | 18 | 0.96596434359806 | 63 | 1851 | 59992586-59992648 |
364 | CTDP1 | 18 | 0.94802494802495 | 150 | 2886 | 77440021, 77440026-77440160, 77440164, 77440169-77440174, 77440235-77440237, 77513713, 77513721, 77513737-77513738 |
365 | ELANE | 19 | 0.86069651741294 | 112 | 804 | 853262-853373 |
366 | KISS1R | 19 | 0.71846282372598 | 337 | 1197 | 917566, 917615-917620, 918602, 918615-918624, 918667-918668, 920079-920081, 920086-920088, 920095, 920290-920355, 920363-920393, 920402-920457, 920508-920537, 920559-920615, 920627-920630, 920634-920642, 920655-920665, 920698-920738, 920744-920748 |
367 | STK11 | 19 | 0.99462365591398 | 7 | 1302 | 1220662, 1226618-1226622, 1226626 |
368 | GAMT | 19 | 0.97530864197531 | 20 | 810 | 1401392-1401394, 1401412-1401414, 1401439-1401442, 1401445-1401446, 1401457, 1401465-1401471 |
369 | RAX2 | 19 | 0.9981981981982 | 1 | 555 | 3770692 |
370 | MAP2K2 | 19 | 0.92352452202826 | 92 | 1203 | 4123781-4123872 |
371 | TUBB4 | 19 | 0.99101123595506 | 12 | 1335 | 6495573, 6495579-6495583, 6495600-6495603, 6495606, 6495677 |
372 | C3 | 19 | 0.99078525641026 | 46 | 4992 | 6707087-6707109, 6707116-6707119, 6707122, 6707235, 6707242-6707243, 6713304-6713316, 6720596, 6720599 |
373 | INSR | 19 | 0.98288744275729 | 71 | 4149 | 7293822-7293857, 7293863-7293873, 7293878-7293880, 7293882-7293902 |
374 | MCOLN1 | 19 | 0.99311531841652 | 12 | 1743 | 7595268, 7598505-7598515 |
375 | PNPLA6 | 19 | 0.99623493975904 | 15 | 3984 | 7615918-7615932 |
376 | STXBP2 | 19 | 0.99438832772166 | 10 | 1782 | 7702036, 7702039, 7710085-7710091, 7711151 |
377 | ADAMTS10 | 19 | 0.9969806763285 | 10 | 3312 | 8649897-8649899, 8649902, 8649907-8649912 |
378 | TYK2 | 19 | 0.99915824915825 | 3 | 3564 | 10463152, 10463192, 10464236 |
379 | DNM2 | 19 | 0.95369307309606 | 121 | 2613 | 10828919-10828920, 10828927-10828929, 10828933, 10828949, 10828951-10828958, 10828968-10829060, 10829066-10829072, 10829076-10829077, 10939816-10939819 |
380 | PRKCSH | 19 | 0.99558916194077 | 7 | 1587 | 11558341-11558343, 11558351-11558354 |
381 | MAN2B1 | 19 | 0.99538866930171 | 14 | 3036 | 12758356-12758358, 12758362, 12759027, 12759030-12759031, 12759138-12759142, 12759149, 12777477 |
382 | CACNA1A | 19 | 0.90253955591012 | 733 | 7521 | 13318188-13318201, 13318241-13318245, 13318269-13318272, 13318277, 13318281, 13318287-13318291, 13318296-13318310, 13318322-13318626, 13318633-13318867, 13319591-13319599, 13319608-13319609, 13319692-13319697, 13409398, 13409401, 13409473-13409478, 13409488-13409496, 13409508-13409509, 13409542-13409595, 13409603-13409620, 13409649, 13409679, 13409718, 13409808-13409812, 13616924-13616941, 13616949-13616960, 13617006, 13617024 |
383 | NOTCH3 | 19 | 0.96382428940568 | 252 | 6966 | 15272208, 15281334-15281335, 15281352, 15288551-15288553, 15288611-15288702, 15288724, 15288733, 15288736-15288741, 15288797-15288809, 15288822, 15288852, 15288860-15288862, 15288870-15288884, 15308380-15308389, 15311615-15311716 |
384 | CYP4F22 | 19 | 0.99310776942356 | 11 | 1596 | 15636350-15636360 |
385 | JAK3 | 19 | 0.9917037037037 | 28 | 3375 | 17940978-17940989, 17941001-17941003, 17945491-17945496, 17945499-17945505 |
386 | SLC5A5 | 19 | 0.99948240165631 | 1 | 1932 | 17984971 |
387 | IL12RB1 | 19 | 0.99849170437406 | 3 | 1989 | 18177461-18177463 |
388 | COMP | 19 | 0.96174142480211 | 87 | 2274 | 18899279, 18899282-18899284, 18899300-18899305, 18899311, 18899424-18899446, 18899453-18899469, 18899475-18899477, 18899493-18899494, 18900755, 18900758, 18900779, 18900807-18900819, 18900845-18900847, 18900851, 18900860, 18900865, 18900887, 18900922-18900923, 18901659-18901660, 18901663, 18901669-18901670, 18901679 |
389 | CEBPA | 19 | 0.30362116991643 | 750 | 1077 | 33792523, 33792540-33792542, 33792559-33792562, 33792565, 33792570-33792575, 33792586-33793320 |
390 | SCN1B | 19 | 0.95043370508055 | 40 | 807 | 35521725-35521764 |
391 | MAG | 19 | 0.99308878256247 | 13 | 1881 | 35793393-35793405 |
392 | PRODH2 | 19 | 0.99317194289261 | 11 | 1611 | 36303283-36303289, 36303322-36303325 |
393 | NPHS1 | 19 | 0.99463231347289 | 20 | 3726 | 36336643-36336661, 36336693 |
394 | SDHAF1 | 19 | 0.99425287356322 | 2 | 348 | 36486183-36486184 |
395 | RYR1 | 19 | 0.97764106634914 | 338 | 15117 | 38943462, 38943467, 38976662, 38976668, 38976671, 38976674-38976676, 38976680-38976682, 38976703-38976705, 38980900-38980903, 38998419-38998433, 39008231-39008233, 39037153, 39055710-39055711, 39055765-39055766, 39055779-39056072, 39056149, 39056161, 39056168 |
396 | ACTN4 | 19 | 0.98940058479532 | 29 | 2736 | 39138484-39138487, 39138495-39138500, 39138511-39138516, 39138519, 39214859, 39214862, 39214872-39214874, 39216470, 39216473-39216478 |
397 | DLL3 | 19 | 0.97092084006462 | 54 | 1857 | 39993467-39993470, 39993477, 39993498, 39993509, 39993601, 39993636-39993638, 39993644-39993653, 39993656-39993660, 39997821-39997823, 39997857-39997861, 39997866-39997871, 39997876, 39997880-39997890, 39997915, 39997998 |
398 | PRX | 19 | 0.98609211126311 | 61 | 4386 | 40901098-40901119, 40909619, 40909688-40909725 |
399 | TGFB1 | 19 | 0.98721227621483 | 15 | 1173 | 41837040-41837041, 41837052-41837058, 41837067, 41858772-41858773, 41858921, 41858934-41858935 |
400 | ATP1A3 | 19 | 0.97009244154432 | 110 | 3678 | 42470794, 42471088-42471118, 42471342-42471378, 42480584-42480623, 42480683 |
401 | BCAM | 19 | 0.97562268150503 | 46 | 1887 | 45312387-45312388, 45312392-45312401, 45312409, 45312413, 45312418, 45315615-45315622, 45321861, 45321864, 45324059-45324079 |
402 | APOE | 19 | 0.9811320754717 | 18 | 954 | 45411902-45411904, 45411912, 45411919-45411920, 45412221, 45412224, 45412230, 45412234-45412242 |
403 | BLOC1S3 | 19 | 0.97536945812808 | 15 | 609 | 45682902-45682911, 45682931, 45683015, 45683036, 45683040, 45683067 |
404 | SIX5 | 19 | 0.82342342342342 | 392 | 2220 | 46270141-46270147, 46270177-46270184, 46270223, 46271458-46271471, 46271569-46271610, 46271740, 46271762, 46271776-46271821, 46271831-46272102 |
405 | DMPK | 19 | 0.97142857142857 | 54 | 1890 | 46285489-46285499, 46285515-46285539, 46285579-46285580, 46285585, 46285593-46285607 |
406 | FKRP | 19 | 0.9005376344086 | 148 | 1488 | 47259069, 47259100-47259108, 47259144-47259186, 47259272-47259274, 47259278, 47259307-47259336, 47259359-47259365, 47259397, 47259400, 47259408, 47259410-47259412, 47259418, 47259435, 47259439-47259441, 47259465, 47259470, 47259481-47259485, 47259493-47259495, 47259504, 47259550, 47259617, 47259626-47259627, 47259631-47259632, 47259643-47259656, 47259665-47259667, 47259670-47259676, 47259740, 47259977 |
407 | DBP | 19 | 0.75869120654397 | 236 | 978 | 49138837-49138984, 49139007-49139047, 49139067-49139098, 49139118, 49139126-49139139 |
408 | MED25 | 19 | 0.99420677361854 | 13 | 2244 | 50334073, 50334126-50334136, 50335407 |
409 | MYH14 | 19 | 0.99312714776632 | 42 | 6111 | 50727426-50727433, 50770153, 50770213-50770239, 50780130-50780134, 50780140 |
410 | KCNC3 | 19 | 0.64775725593668 | 801 | 2274 | 50823503-50823588, 50826416-50826425, 50826437-50826479, 50831478, 50831506-50831731, 50831745-50831772, 50831825-50831858, 50831870-50831876, 50831880-50831883, 50831886-50831960, 50831962-50831994, 50831999-50832002, 50832004-50832010, 50832013-50832020, 50832025, 50832098-50832131, 50832140-50832339 |
411 | KLK4 | 19 | 0.99477124183007 | 4 | 765 | 51412652-51412655 |
412 | NLRP12 | 19 | 0.99968612680477 | 1 | 3186 | 54313978 |
413 | PRKCG | 19 | 0.94651384909265 | 112 | 2094 | 54385749, 54385759, 54385768, 54385776, 54385781, 54385784, 54385790-54385791, 54385846, 54385915, 54392920-54392922, 54392930-54392933, 54392944-54392945, 54392948-54392949, 54392971-54392973, 54393140-54393168, 54393177-54393187, 54393197-54393232, 54393244-54393245, 54393252-54393257, 54393268-54393271 |
414 | TNNT1 | 19 | 0.9873257287706 | 10 | 789 | 55652313-55652318, 55652323, 55656924-55656926 |
415 | KLF11 | 2 | 0.97270955165692 | 42 | 1539 | 10183844-10183885 |
416 | LPIN1 | 2 | 0.99925177702955 | 2 | 2673 | 11911792-11911793 |
417 | MYCN | 2 | 0.8752688172043 | 174 | 1395 | 16082569-16082570, 16082597-16082598, 16082601, 16082612, 16082652-16082661, 16082679-16082836 |
418 | MATN3 | 2 | 0.97262149212868 | 40 | 1461 | 20212316-20212322, 20212333-20212365 |
419 | APOB | 2 | 0.99861232836693 | 19 | 13692 | 21266754, 21266758-21266763, 21266777-21266778, 21266788-21266796, 21266814 |
420 | POMC | 2 | 0.99129353233831 | 7 | 804 | 25384454-25384460 |
421 | OTOF | 2 | 0.9698031364698 | 181 | 5994 | 26696956, 26697385, 26697391, 26697397, 26697404-26697409, 26697417, 26699759-26699911, 26700093, 26700097, 26700111-26700116, 26700128-26700131, 26712592-26712596 |
422 | C2orf71 | 2 | 0.99896560641324 | 4 | 3867 | 29293651-29293653, 29293884 |
423 | ALK | 2 | 0.99732675303311 | 13 | 4863 | 29451785-29451792, 29451828, 30143408-30143411 |
424 | XDH | 2 | 0.99650174912544 | 14 | 4002 | 31572966-31572979 |
425 | SPAST | 2 | 0.83738519719071 | 301 | 1851 | 32289015-32289315 |
426 | CYP1B1 | 2 | 0.98958333333333 | 17 | 1632 | 38302015-38302017, 38302020, 38302188, 38302197-38302207, 38302419 |
427 | SOS1 | 2 | 0.99875062468766 | 5 | 4002 | 39224073, 39241023, 39241026-39241028 |
428 | ABCG5 | 2 | 0.99386503067485 | 12 | 1956 | 44058971-44058974, 44058983-44058986, 44059219-44059222 |
429 | LRPPRC | 2 | 0.99426523297491 | 24 | 4185 | 44204308-44204331 |
430 | SIX3 | 2 | 0.98398398398398 | 16 | 999 | 45169358-45169360, 45169435-45169438, 45169441-45169443, 45169446-45169450, 45171753 |
431 | MSH6 | 2 | 0.97379377908401 | 107 | 4083 | 48010383-48010388, 48010399-48010400, 48010405-48010409, 48010421-48010431, 48010441-48010480, 48010508, 48010511-48010512, 48010515-48010554 |
432 | LHCGR | 2 | 0.98095238095238 | 40 | 2100 | 48915598-48915610, 48982676, 48982757-48982763, 48982768-48982778, 48982782-48982784, 48982787-48982791 |
433 | FSHR | 2 | 0.99904214559387 | 2 | 2088 | 49189938-49189939 |
434 | NRXN1 | 2 | 0.99389830508475 | 27 | 4425 | 50149320-50149324, 50149330-50149331, 51255099, 51255350-51255352, 51255356-51255365, 51255370, 51255389, 51255399, 51255401-51255403 |
435 | EFEMP1 | 2 | 0.99122807017544 | 13 | 1482 | 56102088, 56103764-56103769, 56103796, 56144954-56144956, 56144960, 56144963 |
436 | PEX13 | 2 | 0.9983498349835 | 2 | 1212 | 61272927, 61272931 |
437 | ATP6V1B1 | 2 | 0.99805447470817 | 3 | 1542 | 71163108, 71163114, 71163133 |
438 | MCEE | 2 | 0.984934086629 | 8 | 531 | 71337130, 71351375-71351381 |
439 | SPR | 2 | 0.77989821882952 | 173 | 786 | 73114562-73114566, 73114576-73114614, 73114616, 73114623, 73114627-73114713, 73114782-73114803, 73114815-73114820, 73114826, 73114829-73114831, 73114839-73114840, 73114843-73114848 |
440 | ALMS1 | 2 | 0.9962412028151 | 47 | 12504 | 73613030-73613043, 73613046-73613047, 73613265-73613271, 73676928, 73784448-73784460, 73786242, 73786245, 73827996-73828002, 73828342 |
441 | SLC4A5 | 2 | 0.99941417691857 | 2 | 3414 | 74513025-74513026 |
442 | DCTN1 | 2 | 0.99947875944748 | 2 | 3837 | 74598106-74598107 |
443 | MOGS | 2 | 0.99840891010342 | 4 | 2514 | 74688816-74688818, 74692345 |
444 | HTRA2 | 2 | 0.99854756717502 | 2 | 1377 | 74757142-74757143 |
445 | GGCX | 2 | 0.99868247694335 | 3 | 2277 | 85788530-85788532 |
446 | SFTPB | 2 | 0.9956369982548 | 5 | 1146 | 85895269, 85895273-85895276 |
447 | REEP1 | 2 | 0.94719471947195 | 32 | 606 | 86564602-86564633 |
448 | EIF2AK3 | 2 | 0.99045061175768 | 32 | 3351 | 88926635-88926638, 88926644, 88926651, 88926655-88926656, 88926730-88926732, 88926734-88926752, 88926779-88926780 |
449 | TMEM127 | 2 | 0.99023709902371 | 7 | 717 | 96930883, 96930898, 96930911, 96930914-96930916, 96931093 |
450 | SNRNP200 | 2 | 0.9993760723756 | 4 | 6411 | 96961294-96961297 |
451 | RANBP2 | 2 | 0.97664082687339 | 226 | 9675 | 109347259-109347265, 109347853-109347894, 109357110-109357116, 109363178-109363203, 109368074-109368119, 109370398, 109371656-109371662, 109374971-109375002, 109378593, 109382787-109382793, 109382884-109382891, 109383142-109383148, 109383188-109383194, 109383268-109383274, 109383315-109383321, 109383354-109383360, 109384628-109384634 |
452 | NPHP1 | 2 | 0.99459193706981 | 11 | 2034 | 110886767-110886769, 110917764-110917771 |
453 | MERTK | 2 | 0.98033333333333 | 59 | 3000 | 112656313-112656343, 112656350-112656373, 112687071-112687074 |
454 | GLI2 | 2 | 0.93698802772527 | 300 | 4761 | 121555025, 121726320, 121728156, 121745819-121745820, 121745827-121745829, 121746081, 121746087-121746091, 121746095, 121746143-121746403, 121746411-121746413, 121746436-121746437, 121746441-121746444, 121746470, 121746481-121746482, 121746793-121746794, 121746804, 121747403-121747409, 121747420, 121747664 |
455 | BIN1 | 2 | 0.99943883277217 | 1 | 1782 | 127808379 |
456 | PROC | 2 | 0.90909090909091 | 126 | 1386 | 128178877-128178880, 128178901, 128178907, 128180493-128180517, 128180610, 128180614, 128180637-128180680, 128180686-128180734 |
457 | CFC1 | 2 | 0.78422619047619 | 145 | 672 | 131279072, 131280368-131280477, 131280793-131280815, 131285303-131285313 |
458 | LCT | 2 | 0.99861687413555 | 8 | 5784 | 136564741-136564745, 136575555-136575557 |
459 | ZEB2 | 2 | 0.9923182441701 | 28 | 3645 | 145274890-145274917 |
460 | MMADHC | 2 | 0.99887766554433 | 1 | 891 | 150432976 |
461 | NEB | 2 | 0.99854811254631 | 29 | 19974 | 152432717, 152432727-152432731, 152432772-152432775, 152432784-152432789, 152432792-152432794, 152432825, 152432844-152432847, 152432855, 152482061, 152482064, 152497120, 152497131 |
462 | SCN2A | 2 | 0.99783981389166 | 13 | 6018 | 166171981-166171992, 166211034 |
463 | SCN1A | 2 | 0.99983324995831 | 1 | 5997 | 166856262 |
464 | SCN9A | 2 | 0.99494438827098 | 30 | 5934 | 167060870-167060871, 167083189-167083214, 167145142, 167145145 |
465 | SLC25A12 | 2 | 0.99852724594993 | 3 | 2037 | 172671678-172671679, 172750724 |
466 | ITGA6 | 2 | 0.95879120879121 | 135 | 3276 | 173292517-173292552, 173292562-173292583, 173292598-173292639, 173292652, 173292656-173292658, 173292664-173292694 |
467 | HOXD13 | 2 | 0.67926356589147 | 331 | 1032 | 176957647-176957850, 176957857-176957885, 176957894-176957991 |
468 | AGPS | 2 | 0.99747091552858 | 5 | 1977 | 178346840-178346843, 178346852 |
469 | PRKRA | 2 | 0.99893842887473 | 1 | 942 | 179296824 |
470 | TTN | 2 | 0.99942143484159 | 58 | 100248 | 179392334, 179392339, 179392361, 179415840-179415843, 179415942, 179425461-179425468, 179425489-179425495, 179447745, 179447755-179447756, 179505989-179506002, 179514894, 179540653, 179543154, 179597586-179597591, 179597594, 179598601, 179598604, 179650759-179650762, 179654186, 179658242 |
471 | COL3A1 | 2 | 0.99568279936378 | 19 | 4401 | 189850456, 189870133, 189871663-189871676, 189871679-189871680, 189872664 |
472 | PMS1 | 2 | 0.9924973204716 | 21 | 2799 | 190656553-190656555, 190718694, 190718794-190718808, 190719118, 190719139 |
473 | STAT1 | 2 | 0.99289835774523 | 16 | 2253 | 191859789, 191859902-191859909, 191862597-191862599, 191862609-191862612 |
474 | CASP8 | 2 | 0.99752628324057 | 4 | 1617 | 202149626-202149629 |
475 | ALS2 | 2 | 0.99758745476478 | 12 | 4974 | 202574645-202574652, 202626390-202626393 |
476 | NDUFS1 | 2 | 0.99954212454212 | 1 | 2184 | 207018360 |
477 | FASTKD2 | 2 | 0.99109235818097 | 19 | 2133 | 207632125, 207652749-207652766 |
478 | CPS1 | 2 | 0.99977792582723 | 1 | 4503 | 211455621 |
479 | ABCA12 | 2 | 0.99858757062147 | 11 | 7788 | 215797395, 215797399, 215798888, 215809769, 215854174-215854180 |
480 | PNKD | 2 | 0.99395509499136 | 7 | 1158 | 219204534, 219204595-219204600 |
481 | WNT10A | 2 | 0.99362041467305 | 8 | 1254 | 219757607-219757609, 219757613-219757615, 219757719, 219757735 |
482 | DES | 2 | 0.99646142958245 | 5 | 1413 | 220283435, 220283592, 220283709-220283711 |
483 | OBSL1 | 2 | 0.89492180636092 | 598 | 5691 | 220416269-220416273, 220416276-220416277, 220416282, 220416285, 220416325-220416343, 220416417-220416423, 220417311, 220417319, 220435315, 220435348-220435352, 220435360-220435363, 220435388-220435535, 220435543-220435551, 220435561-220435954 |
484 | COL4A4 | 2 | 0.99703791469194 | 15 | 5064 | 227967907-227967912, 227968715, 227984614-227984621 |
485 | COL4A3 | 2 | 0.99960103730301 | 2 | 5013 | 228163455, 228163476 |
486 | SLC19A3 | 2 | 0.99798792756539 | 3 | 1491 | 228563984, 228563987-228563988 |
487 | UGT1A1 | 2 | 0.99625468164794 | 6 | 1602 | 234668980-234668985 |
488 | COL6A3 | 2 | 0.99958044891966 | 4 | 9534 | 238249102, 238271966, 238273064, 238283453 |
489 | D2HGDH | 2 | 0.99169859514687 | 13 | 1566 | 242689601-242689602, 242689605, 242707211, 242707214-242707215, 242707232-242707238 |
490 | C20orf54 | 20 | 0.99858156028369 | 2 | 1410 | 745967, 746408 |
491 | AVP | 20 | 0.58585858585859 | 205 | 495 | 3063288-3063292, 3063299, 3063304, 3063308-3063310, 3063315-3063318, 3063348-3063448, 3063623-3063681, 3063722-3063727, 3063733, 3063739-3063740, 3063744, 3063773-3063781, 3063794-3063798, 3063805-3063808, 3063811, 3063820, 3063823 |
492 | PANK2 | 20 | 0.91768826619965 | 141 | 1713 | 3869770, 3869904, 3869907, 3869948, 3869960, 3870014-3870020, 3870109, 3870185-3870230, 3870247, 3870256-3870330, 3870367, 3870370-3870374 |
493 | JAG1 | 20 | 0.99890620727372 | 4 | 3657 | 10654118-10654120, 10654134 |
494 | C20orf7 | 20 | 0.99036608863198 | 10 | 1038 | 13782209-13782215, 13782218, 13782269-13782270 |
495 | SNTA1 | 20 | 0.84650856389987 | 233 | 1518 | 32031176-32031180, 32031199-32031426 |
496 | GDF5 | 20 | 0.99867197875166 | 2 | 1506 | 34025121, 34025132 |
497 | ADA | 20 | 0.996336996337 | 4 | 1092 | 43280240-43280243 |
498 | CTSA | 20 | 0.99532398129593 | 7 | 1497 | 44520238-44520240, 44520248-44520251 |
499 | VAPB | 20 | 0.91939890710383 | 59 | 732 | 56964516-56964573, 57014056 |
500 | GNAS | 20 | 0.99322493224932 | 5 | 738 | 57415326-57415330 |
501 | GNAS | 20 | 0.98073217726397 | 60 | 3114 | 57429617-57429665, 57429691, 57429696, 57429975, 57430099-57430105, 57430375 |
502 | COL9A3 | 20 | 0.95231143552311 | 98 | 2055 | 61448417-61448494, 61448963-61448977, 61456357-61456360, 61456364 |
503 | CHRNA4 | 20 | 0.97452229299363 | 48 | 1884 | 61981600, 61981613-61981615, 61992469-61992512 |
504 | KCNQ2 | 20 | 0.98243604429171 | 46 | 2619 | 62103628-62103632, 62103635-62103636, 62103641-62103642, 62103645-62103646, 62103684-62103702, 62103713-62103724, 62103731, 62103735-62103737 |
505 | SOX18 | 20 | 0.30822510822511 | 799 | 1155 | 62679658-62679666, 62679668, 62679767, 62679784, 62679794-62680054, 62680060-62680096, 62680111-62680151, 62680205, 62680211-62680214, 62680217-62680218, 62680225-62680301, 62680310-62680315, 62680512-62680869 |
506 | APP | 21 | 0.99697362732382 | 7 | 2313 | 27394182-27394184, 27394193-27394196 |
507 | BACH1 | 21 | 0.98733604703754 | 28 | 2211 | 30715036-30715046, 30715119-30715135 |
508 | IFNGR2 | 21 | 0.92800788954635 | 73 | 1014 | 34775850-34775922 |
509 | RCAN1 | 21 | 0.66798418972332 | 252 | 759 | 35987059-35987310 |
510 | RUNX1 | 21 | 0.996534996535 | 5 | 1443 | 36164448, 36164454, 36164457, 36259358, 36259370 |
511 | CLDN14 | 21 | 0.99444444444444 | 4 | 720 | 37833818-37833821 |
512 | HLCS | 21 | 0.99862448418157 | 3 | 2181 | 38309515, 38309524-38309525 |
513 | CBS | 21 | 0.9993961352657 | 1 | 1656 | 44484060 |
514 | CSTB | 21 | 0.94276094276094 | 17 | 297 | 45196107-45196108, 45196111-45196119, 45196128, 45196139, 45196144-45196147 |
515 | AIRE | 21 | 0.9004884004884 | 163 | 1638 | 45705890-45706021, 45712876-45712897, 45712978, 45712984-45712985, 45712991, 45713041, 45713057-45713058, 45714354-45714355 |
516 | ITGB2 | 21 | 0.95411255411255 | 106 | 2310 | 46308608-46308626, 46308632-46308718 |
517 | COL18A1 | 21 | 0.99316239316239 | 36 | 5265 | 46876531-46876541, 46876561-46876584, 46906791 |
518 | COL6A1 | 21 | 0.99060576611597 | 29 | 3087 | 47401780-47401784, 47401787, 47401792, 47401795-47401813, 47407544, 47419591, 47419596 |
519 | COL6A2 | 21 | 0.99411764705882 | 18 | 3060 | 47531399, 47531440, 47551982-47551997 |
520 | FTCD | 21 | 0.98216482164822 | 29 | 1626 | 47565732-47565758, 47565775, 47571597 |
521 | PCNT | 21 | 0.99800219758266 | 20 | 10011 | 47744183-47744194, 47754510, 47822312-47822315, 47832832, 47858082-47858083 |
522 | PRODH | 22 | 0.89129229062673 | 196 | 1803 | 18905879-18905885, 18908875, 18923535-18923537, 18923544-18923551, 18923559-18923567, 18923570, 18923634-18923800 |
523 | GP1BB | 22 | 0.3719806763285 | 390 | 621 | 19711468-19711507, 19711513-19711537, 19711546-19711552, 19711560-19711864, 19711872-19711880, 19711883-19711886 |
524 | TBX1 | 22 | 0.46774193548387 | 792 | 1488 | 19748428-19748803, 19753340, 19753348, 19753452-19753483, 19753506, 19753912-19754242, 19754248-19754258, 19754276, 19754286, 19754295-19754298, 19754302-19754309, 19754313, 19754318-19754330, 19754347-19754354, 19754365-19754367 |
525 | SMARCB1 | 22 | 0.96027633851468 | 46 | 1158 | 24129361, 24129368, 24129371, 24129387-24129417, 24129427-24129437, 24129440 |
526 | HPS4 | 22 | 0.99905303030303 | 2 | 2112 | 26849266, 26849278 |
527 | CHEK2 | 22 | 0.97047132311187 | 52 | 1761 | 29083906-29083917, 29083948-29083965, 29085165-29085171, 29091837-29091844, 29126433-29126439 |
528 | NF2 | 22 | 0.99944071588367 | 1 | 1788 | 30057196 |
529 | SLC5A1 | 22 | 0.99248120300752 | 15 | 1995 | 32477863-32477875, 32495223-32495224 |
530 | LARGE | 22 | 0.99691765741964 | 7 | 2271 | 33700240-33700242, 33700254-33700256, 33700259 |
531 | MYH9 | 22 | 0.9988101308856 | 7 | 5883 | 36688111, 36689419-36689424 |
532 | TRIOBP | 22 | 0.96773739081431 | 229 | 7098 | 38119745, 38119749-38119757, 38119763, 38119766-38119767, 38119771, 38119798-38119835, 38119856-38119862, 38119879-38119965, 38120038-38120068, 38120153, 38120176-38120178, 38120196, 38120394-38120432, 38120480-38120486, 38122448 |
533 | SOX10 | 22 | 0.96431120628123 | 50 | 1401 | 38379667-38379669, 38379672, 38379675-38379686, 38379700, 38379704, 38379710-38379739, 38379750, 38379755 |
534 | EP300 | 22 | 0.99503105590062 | 36 | 7245 | 41546101, 41546110, 41546146, 41574086-41574089, 41574166-41574188, 41574191-41574195, 41574199 |
535 | TNFRSF13C | 22 | 0.87567567567568 | 69 | 555 | 42322147, 42322230, 42322244, 42322249-42322268, 42322278-42322279, 42322290, 42322295-42322301, 42322308-42322310, 42322314-42322315, 42322318-42322335, 42322682, 42322698-42322701, 42322735-42322738, 42322756-42322757, 42322773-42322774 |
536 | CYB5R3 | 22 | 0.97682119205298 | 21 | 906 | 43045301-43045321 |
537 | ATXN10 | 22 | 0.98319327731092 | 24 | 1428 | 46067944-46067963, 46068020, 46068046-46068047, 46068054 |
538 | TRMU | 22 | 0.99921011058452 | 1 | 1266 | 46751373 |
539 | ALG12 | 22 | 0.9986366734833 | 2 | 1467 | 50297994, 50297999 |
540 | MLC1 | 22 | 0.98941798941799 | 12 | 1134 | 50502479-50502483, 50502487, 50502592, 50502597-50502599, 50502607-50502608 |
541 | TYMP | 22 | 0.75431331953071 | 356 | 1449 | 50964219-50964221, 50964235-50964236, 50964260-50964298, 50964332, 50964430-50964474, 50964480-50964559, 50964675-50964846, 50964854, 50965044, 50965092, 50965135-50965143, 50965155-50965156 |
542 | ARSA | 22 | 0.98490813648294 | 23 | 1524 | 51063682, 51063685, 51063715-51063720, 51063724, 51063730-51063735, 51063739, 51063743-51063746, 51063820, 51063834, 51066189 |
543 | SHANK3 | 22 | 0.74961861174676 | 1313 | 5244 | 51113070-51113132, 51113519-51113560, 51113587, 51117766-51117768, 51135951-51136143, 51158615-51158616, 51158627-51158631, 51158724-51159260, 51159308, 51159314-51159315, 51159322, 51159326, 51159376, 51159411-51159420, 51159423, 51159447, 51159450-51159454, 51169157-51169161, 51169225, 51169242, 51169273-51169464, 51169476-51169509, 51169530-51169740 |
544 | FANCD2 | 3 | 0.98550724637681 | 64 | 4416 | 10088305-10088346, 10091150-10091156, 10107165-10107171, 10114941-10114947, 10123081 |
545 | VHL | 3 | 0.99844236760125 | 1 | 642 | 10183720 |
546 | COLQ | 3 | 0.99926900584795 | 1 | 1368 | 15563120 |
547 | GLB1 | 3 | 0.98475909537856 | 31 | 2034 | 33138511-33138526, 33138529-33138537, 33138560-33138564, 33138569 |
548 | CRTAP | 3 | 0.88640132669983 | 137 | 1206 | 33155634-33155636, 33155644-33155654, 33155680-33155684, 33155789-33155802, 33155818-33155869, 33155886, 33155890-33155936, 33155956, 33155973-33155975 |
549 | MLH1 | 3 | 0.99823866138265 | 4 | 2271 | 37090464-37090467 |
550 | ABHD5 | 3 | 0.99809523809524 | 2 | 1050 | 43732493-43732494 |
551 | TMIE | 3 | 0.93246187363834 | 31 | 459 | 46742867-46742870, 46742875-46742898, 46742930-46742931, 46742959 |
552 | TREX1 | 3 | 0.9990990990991 | 1 | 1110 | 48508891 |
553 | RFT1 | 3 | 0.98585485854859 | 23 | 1626 | 53156415, 53156419-53156427, 53156435-53156446, 53156498 |
554 | TKT | 3 | 0.94284188034188 | 107 | 1872 | 53289852-53289958 |
555 | FLNB | 3 | 0.99935971315149 | 5 | 7809 | 58062877, 58062887-58062890 |
556 | ATXN7 | 3 | 0.88548273431994 | 325 | 2838 | 63898275-63898599 |
557 | MITF | 3 | 0.99424184261036 | 9 | 1563 | 69928419, 69928422-69928424, 69928450-69928454 |
558 | ROBO2 | 3 | 0.99613246313754 | 16 | 4137 | 77657034-77657049 |
559 | GBE1 | 3 | 0.99857752489331 | 3 | 2109 | 81754643, 81754699, 81754734 |
560 | PROS1 | 3 | 0.9862136878385 | 28 | 2031 | 93595828-93595839, 93596020-93596035 |
561 | CPOX | 3 | 0.91501831501831 | 116 | 1365 | 98311938-98311950, 98312144, 98312147-98312154, 98312180-98312235, 98312248-98312285 |
562 | IQCB1 | 3 | 0.99220923761825 | 14 | 1797 | 121500683-121500695, 121526208 |
563 | CASR | 3 | 0.99382143960457 | 20 | 3237 | 122003526-122003544, 122003604 |
564 | GP9 | 3 | 0.99625468164794 | 2 | 534 | 128780899, 128780963 |
565 | ATP2C1 | 3 | 0.99929824561404 | 2 | 2850 | 130718362-130718363 |
566 | NPHP3 | 3 | 0.92737290257951 | 290 | 3993 | 132438549-132438601, 132438612-132438674, 132441026-132441199 |
567 | FOXL2 | 3 | 0.60212201591512 | 450 | 1131 | 138664604-138664936, 138664946-138665022, 138665043-138665053, 138665080-138665102, 138665205, 138665209-138665213 |
568 | MRPS22 | 3 | 0.98984302862419 | 11 | 1083 | 139067097, 139074561-139074570 |
569 | PLOD2 | 3 | 0.99912165129556 | 2 | 2277 | 145804641, 145804651 |
570 | HPS3 | 3 | 0.99701492537313 | 9 | 3015 | 148871389-148871397 |
571 | IFT80 | 3 | 0.99742268041237 | 6 | 2328 | 159986272, 159995443, 160018738, 160021715, 160099292, 160099474 |
572 | PLD1 | 3 | 0.99813953488372 | 6 | 3225 | 171330181-171330182, 171338198, 171338201-171338203 |
573 | SOX2 | 3 | 0.9874213836478 | 12 | 954 | 181430179-181430183, 181430238, 181430241-181430242, 181430263-181430266 |
574 | KLHL6 | 3 | 0.9989281886388 | 2 | 1866 | 183211933, 183211935 |
575 | ALG3 | 3 | 0.99544419134396 | 6 | 1317 | 183960400-183960403, 183966660-183966661 |
576 | OPA1 | 3 | 0.99770341207349 | 7 | 3048 | 193355055-193355057, 193382700-193382703 |
577 | PDE6B | 4 | 0.99805068226121 | 5 | 2565 | 619543-619547 |
578 | IDUA | 4 | 0.89041794087666 | 215 | 1962 | 980895-980896, 980900, 980905, 980986, 981640, 996253-996255, 996258-996260, 996265, 996269-996270, 996520-996521, 996545-996551, 996554, 996566-996568, 996590-996596, 996602, 996605, 996628, 996638, 996669-996732, 996824-996896, 996919-996929, 996931, 996934, 996937-996945, 997173-997178, 997185-997194, 997199 |
579 | FGFR3 | 4 | 0.99464359291306 | 13 | 2427 | 1795667, 1795677, 1803726, 1803729, 1808614, 1808972-1808979 |
580 | SH3BP2 | 4 | 0.91007000538503 | 167 | 1857 | 2819951-2820117 |
581 | HTT | 4 | 0.98218262806236 | 168 | 9429 | 3076600-3076603, 3076604-3076699, 3076721-3076732, 3076738-3076774, 3213775-3213781, 3213790-3213793, 3213797-3213801, 3240314, 3240320, 3240335 |
582 | DOK7 | 4 | 0.92607260726073 | 112 | 1515 | 3465103-3465156, 3465233-3465278, 3478069-3478079, 3478112 |
583 | MSX1 | 4 | 0.7905701754386 | 191 | 912 | 4861627-4861777, 4861785-4861798, 4861804-4861811, 4861823, 4861871-4861874, 4861891, 4861961-4861970, 4864428, 4864434 |
584 | EVC2 | 4 | 0.99949070537306 | 2 | 3927 | 5630301-5630302 |
585 | EVC | 4 | 0.94796911715341 | 155 | 2979 | 5713108-5713227, 5713245, 5713250-5713256, 5713265-5713268, 5809988-5810010 |
586 | SLC2A9 | 4 | 0.99445471349353 | 9 | 1623 | 9982315, 9982318-9982325 |
587 | QDPR | 4 | 0.88979591836735 | 81 | 735 | 17513573-17513593, 17513604-17513612, 17513627-17513677 |
588 | CNGA1 | 4 | 0.98333333333333 | 38 | 2280 | 47954618-47954630, 47954654-47954656, 47954667-47954677, 47954683, 47954696-47954702, 47973110-47973111, 47973116 |
589 | SGCB | 4 | 0.97074190177638 | 28 | 957 | 52904393-52904420 |
590 | PDGFRA | 4 | 0.99938837920489 | 2 | 3270 | 55156486-55156487 |
591 | ALB | 4 | 0.99945355191257 | 1 | 1830 | 74279267 |
592 | COQ2 | 4 | 0.97142857142857 | 33 | 1155 | 84188825, 84188846-84188849, 84205719-84205720, 84205872, 84205879-84205885, 84205889, 84205892-84205902, 84205904, 84205907-84205911 |
593 | CDS1 | 4 | 0.998556998557 | 2 | 1386 | 85560107, 85560121 |
594 | PKD2 | 4 | 0.86480908152735 | 393 | 2907 | 88928886-88929029, 88929058-88929064, 88929070-88929311 |
595 | SNCA | 4 | 0.99527186761229 | 2 | 423 | 90749294-90749295 |
596 | MTTP | 4 | 0.99776536312849 | 6 | 2685 | 100529990-100529993, 100529996, 100530029 |
597 | MANBA | 4 | 0.99962121212121 | 1 | 2640 | 103595186 |
598 | CISD2 | 4 | 0.92647058823529 | 30 | 408 | 103808512-103808522, 103808569-103808587 |
599 | TACR3 | 4 | 0.98426323319027 | 22 | 1398 | 104577389, 104640740-104640760 |
600 | ANK2 | 4 | 0.99974734714502 | 3 | 11874 | 114161705, 114253191, 114288921 |
601 | BBS7 | 4 | 0.99022346368715 | 21 | 2148 | 122775917-122775932, 122775941-122775945 |
602 | GLRB | 4 | 0.9859437751004 | 21 | 1494 | 158041710, 158041717, 158041725, 158041728-158041735, 158041753, 158041756-158041763, 158060048 |
603 | ETFDH | 4 | 0.99244875943905 | 14 | 1854 | 159606341-159606342, 159606363-159606366, 159611570-159611577 |
604 | GK | 4 | 0.98676293622142 | 22 | 1662 | 166199358-166199364, 166199423-166199429, 166200096, 166200757-166200763 |
605 | SLC25A4 | 4 | 0.94091415830546 | 53 | 897 | 186064527-186064531, 186064540, 186064553-186064562, 186064568, 186064571-186064577, 186064599-186064600, 186064604-186064630 |
606 | SDHA | 5 | 0.9483709273183 | 103 | 1995 | 218471, 218474, 218482-218484, 218487-218494, 223682-223683, 224475, 225654-225666, 236553-236559, 236646-236684, 251143-251149, 251500-251506, 254526-254532, 254571-254577 |
607 | TERT | 5 | 0.9146807884672 | 290 | 3399 | 1280368-1280389, 1294571-1294616, 1294643, 1294659-1294710, 1294716, 1294723, 1294727-1294732, 1294747-1294759, 1294765-1294772, 1294889-1294913, 1294919-1294925, 1294960-1294961, 1294999-1295104 |
608 | SLC6A3 | 5 | 0.99946323134729 | 1 | 1863 | 1414820 |
609 | SDHA | 5 | 0.92660550458716 | 24 | 327 | 1593258-1593267, 1593383-1593389, 1594532, 1594546, 1594561, 1594565-1594568 |
610 | DNAH5 | 5 | 0.99387387387387 | 85 | 13875 | 13727661-13727663, 13766199, 13894827, 13894883, 13916457-13916482, 13916488-13916530, 13916550-13916552, 13916555, 13916559-13916564 |
611 | FAM134B | 5 | 0.94511378848728 | 82 | 1494 | 16616780-16616782, 16616808, 16616833, 16616837, 16616847, 16616972-16616973, 16617008-16617080 |
612 | AMACR | 5 | 0.99912967798085 | 1 | 1149 | 33998763 |
613 | NIPBL | 5 | 0.97563874034462 | 205 | 8415 | 37014863, 37036481-37036496, 37036502-37036511, 37036528-37036589, 37048604-37048675, 37048684-37048727 |
614 | LIFR | 5 | 0.98937462052216 | 35 | 3294 | 38482726-38482729, 38490326, 38490385-38490388, 38506012-38506013, 38506019, 38506027-38506042, 38506047-38506050, 38506082-38506084 |
615 | OXCT1 | 5 | 0.99936020473448 | 1 | 1563 | 41862826 |
616 | GHR | 5 | 0.99947835159103 | 1 | 1917 | 42718970 |
617 | ITGA2 | 5 | 0.99858996051889 | 5 | 3546 | 52285331, 52322674, 52322677, 52322684, 52386424 |
618 | ERCC8 | 5 | 0.97984886649874 | 24 | 1191 | 60200622-60200627, 60200630-60200637, 60200646-60200647, 60200654-60200657, 60200686, 60200691, 60200695-60200696 |
619 | NDUFAF2 | 5 | 0.89803921568627 | 52 | 510 | 60394829-60394835, 60394855-60394859, 60448594-60448614, 60448633-60448637, 60448652, 60448656-60448657, 60448660, 60448717-60448726 |
620 | SMN2 | 5 | 0.97401129943503 | 23 | 885 | 69359242-69359247, 69362945-69362961 |
621 | SMN2 | 5 | 0.97401129943503 | 23 | 885 | 70234666-70234671, 70238369-70238385 |
622 | MCCC2 | 5 | 0.99408983451537 | 10 | 1692 | 70898407-70898416 |
623 | HEXB | 5 | 0.96947935368043 | 51 | 1671 | 73981086-73981110, 73981131-73981155, 73981224 |
624 | AP3B1 | 5 | 0.99208523592085 | 26 | 3285 | 77311287, 77311340-77311342, 77411994-77411995, 77471508, 77523237-77523240, 77563395-77563405, 77563415-77563418 |
625 | ARSB | 5 | 0.80524344569288 | 312 | 1602 | 78280760-78281071 |
626 | VCAN | 5 | 0.99941124521637 | 6 | 10191 | 82834308-82834312, 82834318 |
627 | RASA1 | 5 | 0.96342239185751 | 115 | 3144 | 86564710, 86669986-86669990, 86670029-86670137 |
628 | MEF2C | 5 | 0.99929676511955 | 1 | 1422 | 88024362 |
629 | GPR98 | 5 | 0.99545478568786 | 86 | 18921 | 89914915, 89914962-89914968, 89941794, 89969879, 90004679, 90016793-90016837, 90049451, 90144563, 90144566, 90144568, 90144578, 90144587-90144593, 90144604-90144612, 90144631-90144638, 90261270 |
630 | PCSK1 | 5 | 0.99557913351017 | 10 | 2262 | 95764982-95764991 |
631 | WDR36 | 5 | 0.99229691876751 | 22 | 2856 | 110436328-110436330, 110448820-110448821, 110448827, 110448834-110448837, 110448840-110448851 |
632 | HSD17B4 | 5 | 0.99412030755314 | 13 | 2211 | 118835119, 118835134, 118861691, 118861694, 118861710-118861718 |
633 | HSD17B4 | 5 | 0.96099290780142 | 11 | 282 | 118861691, 118861694, 118861710-118861718 |
634 | ALDH7A1 | 5 | 0.99320987654321 | 11 | 1620 | 125918622-125918632 |
635 | LMNB1 | 5 | 0.99432140829074 | 10 | 1761 | 126113259-126113263, 126113477-126113479, 126113493, 126141317 |
636 | FBN2 | 5 | 0.99530838768738 | 41 | 8739 | 127614507-127614508, 127615941-127615944, 127626498-127626500, 127702091-127702112, 127702122-127702123, 127728940, 127728947, 127728950-127728951, 127873278-127873281 |
637 | MYOT | 5 | 0.96927187708751 | 46 | 1497 | 137221772-137221775, 137221835-137221844, 137221855-137221863, 137221883, 137222903-137222907, 137222913-137222917, 137222933, 137222940-137222943, 137223010-137223012, 137223030-137223033 |
638 | MATR3 | 5 | 0.99803459119497 | 5 | 2544 | 138643140-138643141, 138658502, 138658506-138658507 |
639 | NDUFA2 | 5 | 0.98333333333333 | 5 | 300 | 140027144-140027148 |
640 | DIAPH1 | 5 | 0.99633411887929 | 14 | 3819 | 140953461, 140953522, 140953564-140953575 |
641 | PPP2R2B | 5 | 0.99924924924925 | 1 | 1332 | 146077645 |
642 | ADRB2 | 5 | 0.99838969404187 | 2 | 1242 | 148207632-148207633 |
643 | PDE6A | 5 | 0.99728997289973 | 7 | 2583 | 149240506-149240509, 149276014-149276016 |
644 | ITK | 5 | 0.99624261943103 | 7 | 1863 | 156668656-156668662 |
645 | MSX2 | 5 | 0.99875621890547 | 1 | 804 | 174151876 |
646 | PROP1 | 5 | 0.98972099853157 | 7 | 681 | 177419734-177419740 |
647 | GRM6 | 5 | 0.86028853454822 | 368 | 2634 | 178421536, 178421579-178421945 |
648 | SQSTM1 | 5 | 0.91761148904006 | 109 | 1323 | 179247937-179247956, 179247972-179248013, 179248029-179248064, 179248076-179248081, 179248103-179248105, 179248109, 179248113 |
649 | FLT4 | 5 | 0.98313782991202 | 69 | 4092 | 180046109, 180046355-180046357, 180057041-180057047, 180076488-180076545 |
650 | FOXC1 | 6 | 0.51083032490975 | 813 | 1662 | 1610858-1610865, 1610900, 1611172-1611204, 1611278-1612045, 1612055, 1612058-1612059 |
651 | TUBB2B | 6 | 0.98206278026906 | 24 | 1338 | 3225245-3225252, 3225301, 3225474, 3225569-3225575, 3225718-3225724 |
652 | DTNBP1 | 6 | 0.97632575757576 | 25 | 1056 | 15627625, 15663063-15663066, 15663069, 15663076-15663094 |
653 | ATXN1 | 6 | 0.94199346405229 | 142 | 2448 | 16327684, 16327819-16327959 |
654 | ALDH5A1 | 6 | 0.9738919247116 | 43 | 1647 | 24495301-24495307, 24495362-24495364, 24495380-24495389, 24495396-24495399, 24495405, 24495413, 24495419-24495426, 24495438-24495439, 24495455, 24495475, 24495527-24495529, 24495536, 24495557 |
655 | HLA-H | 6 | 0.99866666666667 | 1 | 750 | 29856686 |
656 | TNXB | 6 | 0.96837739761534 | 61 | 1929 | 31976916, 31976926, 31977387-31977394, 31977528, 31977538, 31977552-31977553, 31977994-31978002, 31978498-31978517, 31979476-31979482, 31979520-31979528, 31979963, 31980000 |
657 | CYP21A2 | 6 | 0.96908602150538 | 46 | 1488 | 32006200-32006202, 32006211-32006221, 32006337, 32006886, 32006961, 32007787-32007793, 32008195-32008201, 32008893-32008907 |
658 | TNXB | 6 | 0.99285097022547 | 91 | 12729 | 32009648-32009664, 32010122-32010129, 32010269-32010290, 32010728-32010746, 32011235, 32011248, 32012330-32012336, 32012374-32012382, 32012814-32012820 |
659 | HLA-DQA1 | 6 | 0.95442708333333 | 35 | 768 | 32609126, 32609168-32609169, 32609181, 32609207, 32609213, 32609216, 32609227, 32609231, 32609236, 32609264, 32609271, 32609286, 32609299, 32609312, 32610387-32610406 |
660 | HLA-DQB1 | 6 | 0.61323155216285 | 304 | 786 | 32629124-32629173, 32629199, 32629224-32629234, 32629752-32629767, 32629799-32629812, 32632575-32632657, 32632686-32632699, 32632704-32632807, 32632818, 32632831-32632832, 32634313, 32634331, 32634341, 32634350, 32634365-32634366, 32634369, 32634373 |
661 | COL11A2 | 6 | 0.97965841489158 | 106 | 5211 | 33136747-33136760, 33139827-33139830, 33140066-33140074, 33140106-33140142, 33140358-33140395, 33141960-33141963 |
662 | SYNGAP1 | 6 | 0.90327380952381 | 390 | 4032 | 33388042-33388108, 33393575, 33393585-33393680, 33405782, 33405821-33405822, 33410910-33410914, 33410925, 33411483-33411490, 33411508-33411716 |
663 | FANCE | 6 | 0.97579143389199 | 39 | 1611 | 35420356-35420367, 35420384-35420394, 35420397, 35420402, 35420414-35420420, 35420528, 35420531-35420535, 35420557 |
664 | TULP1 | 6 | 0.99938612645795 | 1 | 1629 | 35480004 |
665 | PRPH2 | 6 | 0.99903938520653 | 1 | 1041 | 42672139 |
666 | PEX6 | 6 | 0.99728168535508 | 8 | 2943 | 42946602, 42946648-42946650, 42946654, 42946699, 42946705-42946706 |
667 | RSPH9 | 6 | 0.99398315282792 | 5 | 831 | 43612853, 43612873-43612876 |
668 | RUNX2 | 6 | 0.86845466155811 | 206 | 1566 | 45390330-45390535 |
669 | CD2AP | 6 | 0.99114583333333 | 17 | 1920 | 47563645-47563660, 47563697 |
670 | MUT | 6 | 0.98268974700399 | 39 | 2253 | 49409553-49409591 |
671 | PKHD1 | 6 | 0.999836400818 | 2 | 12225 | 51611647, 51889727 |
672 | EYS | 6 | 0.99809220985692 | 18 | 9435 | 64940569-64940580, 65336061, 65523378, 65596694-65596695, 66063433, 66094331 |
673 | LMBRD1 | 6 | 0.98706099815157 | 21 | 1623 | 70410665, 70410732, 70410739-70410740, 70428895-70428902, 70451718-70451726 |
674 | RIMS1 | 6 | 0.98543020279583 | 74 | 5079 | 72892295-72892298, 72892303, 72892316-72892321, 72892331, 72892335, 72892339, 72892344-72892361, 72892364, 72892383, 72892432, 72892436-72892443, 73102429, 73108753, 73108763, 73108767-73108792, 73108795-73108796 |
675 | SLC17A5 | 6 | 0.98387096774194 | 24 | 1488 | 74363516-74363521, 74363527, 74363529, 74363539-74363544, 74363548, 74363588-74363590, 74363593-74363598 |
676 | MYO6 | 6 | 0.99663037843442 | 13 | 3858 | 76617322-76617334 |
677 | LCA5 | 6 | 0.99952244508118 | 1 | 2094 | 80196757 |
678 | BCKDHB | 6 | 0.99321458863444 | 8 | 1179 | 80881004, 80881056-80881058, 80881078, 80881085, 80881105-80881106 |
679 | NDUFAF4 | 6 | 0.99621212121212 | 2 | 528 | 97339119, 97339134 |
680 | PDSS2 | 6 | 0.99333333333333 | 8 | 1200 | 107780279-107780284, 107780297, 107780300 |
681 | SEC63 | 6 | 0.99430573806395 | 13 | 2283 | 108204297-108204300, 108279160-108279164, 108279170, 108279194-108279196 |
682 | OSTM1 | 6 | 0.94825870646766 | 52 | 1005 | 108395629, 108395752-108395797, 108395827-108395830, 108395842 |
683 | FIG4 | 6 | 0.99412628487518 | 16 | 2724 | 110059553, 110081475, 110081478-110081481, 110106173-110106181, 110106191 |
684 | LAMA2 | 6 | 0.99775712912528 | 21 | 9363 | 129465162, 129475725-129475729, 129513905-129513907, 129513911-129513913, 129618906, 129823905-129823912 |
685 | ENPP1 | 6 | 0.94096472282217 | 164 | 2778 | 132129176-132129236, 132129253-132129259, 132171184, 132171187-132171194, 132176129, 132186075, 132203485-132203547, 132203560-132203571, 132203573, 132203577-132203585 |
686 | EYA4 | 6 | 0.99114583333333 | 17 | 1920 | 133767805, 133767891, 133769268, 133769275-133769276, 133769285, 133769293, 133777748, 133777761, 133834091-133834098 |
687 | PEX7 | 6 | 0.99897119341564 | 1 | 972 | 137167319 |
688 | IFNGR1 | 6 | 0.99931972789116 | 1 | 1470 | 137524814 |
689 | PEX3 | 6 | 0.98217468805704 | 20 | 1122 | 143792099, 143792133, 143793375-143793392 |
690 | STX11 | 6 | 0.98611111111111 | 12 | 864 | 144507817-144507819, 144507826-144507831, 144507843-144507844, 144508216 |
691 | EPM2A | 6 | 0.72690763052209 | 272 | 996 | 146056334-146056591, 146056597-146056608, 146056633-146056634 |
692 | SYNE1 | 6 | 0.99931802682428 | 18 | 26394 | 152532670, 152545697, 152545776, 152545783-152545784, 152545793, 152599380-152599382, 152644718, 152644738, 152717921, 152751760, 152774726-152774727, 152774736-152774738 |
693 | TBP | 6 | 0.93627450980392 | 65 | 1020 | 170871014-170871018, 170871025-170871030, 170871034-170871040, 170871047-170871083, 170871092-170871101 |
694 | LFNG | 7 | 0.70877192982456 | 332 | 1140 | 2559496-2559803, 2559812-2559817, 2559822-2559838, 2565091 |
695 | PMS2 | 7 | 0.98957126303592 | 27 | 2589 | 6013046-6013052, 6013150-6013156, 6026834-6026843, 6029445, 6029458-6029459 |
696 | TWIST1 | 7 | 0.61247947454844 | 236 | 609 | 19156530-19156533, 19156634-19156638, 19156641, 19156646-19156648, 19156708, 19156723-19156944 |
697 | DNAH11 | 7 | 0.99801061007958 | 27 | 13572 | 21598506-21598518, 21630577, 21630582, 21630630-21630640, 21893993 |
698 | DFNA5 | 7 | 0.99262240107311 | 11 | 1491 | 24742432, 24758687-24758694, 24758794-24758795 |
699 | HOXA13 | 7 | 0.61096829477292 | 454 | 1167 | 27239091, 27239097, 27239102-27239106, 27239114-27239118, 27239255-27239696 |
700 | RP9 | 7 | 0.77177177177177 | 152 | 666 | 33148833-33148984 |
701 | TXNDC3 | 7 | 0.99943406904358 | 1 | 1767 | 37916536 |
702 | GLI3 | 7 | 0.99894581488509 | 5 | 4743 | 42005042, 42005562, 42005999, 42006025-42006026 |
703 | CCM2 | 7 | 0.97752808988764 | 30 | 1335 | 45039933-45039962 |
704 | DDC | 7 | 0.98960498960499 | 15 | 1443 | 50531071-50531085 |
705 | EGFR | 7 | 0.9757775942747 | 88 | 3633 | 55086971-55087058 |
706 | ASL | 7 | 0.99569892473118 | 6 | 1395 | 65553887-65553890, 65553897, 65554269 |
707 | KCTD7 | 7 | 0.83448275862069 | 144 | 870 | 66094052-66094195 |
708 | SBDS | 7 | 0.9933598937583 | 5 | 753 | 66460277-66460281 |
709 | NCF1 | 7 | 0.95636363636364 | 36 | 825 | 72639983-72639989, 72640033-72640039, 72643704-72643710, 72645924-72645930, 72648743-72648750 |
710 | ELN | 7 | 0.98804597701149 | 26 | 2175 | 73442540-73442542, 73442545, 73442556-73442572, 73466280-73466282, 73466287, 73466291 |
711 | NCF1 | 7 | 0.95566922421142 | 52 | 1173 | 74193665-74193671, 74202423-74202432, 74202987-74203021 |
712 | POR | 7 | 0.9985315712188 | 3 | 2043 | 75614244-75614246 |
713 | HSPB1 | 7 | 0.98705501618123 | 8 | 618 | 75932289-75932290, 75932296-75932298, 75932307-75932309 |
714 | CD36 | 7 | 0.99929527836505 | 1 | 1419 | 80285946 |
715 | HGF | 7 | 0.99954275262917 | 1 | 2187 | 81399261 |
716 | ABCB4 | 7 | 0.99973958333333 | 1 | 3840 | 87037372 |
717 | AKAP9 | 7 | 0.99547935858069 | 53 | 11724 | 91609603, 91609631-91609647, 91630244-91630268, 91691722-91691729, 91706260, 91714850 |
718 | PEX1 | 7 | 0.99558670820353 | 17 | 3852 | 92122376, 92138655-92138670 |
719 | COL1A2 | 7 | 0.98585710802243 | 58 | 4101 | 94030896, 94030899, 94030912-94030927, 94038094, 94049571, 94049918-94049950, 94052304-94052307, 94055310 |
720 | SGCE | 7 | 0.97418879056047 | 35 | 1356 | 94252647-94252652, 94252655-94252682, 94259055 |
721 | SLC25A13 | 7 | 0.99556868537666 | 9 | 2031 | 95751296, 95751300-95751307 |
722 | TFR2 | 7 | 0.98836242726517 | 28 | 2406 | 100218706-100218709, 100228635, 100229456-100229477, 100238654 |
723 | SERPINE1 | 7 | 0.99421009098428 | 7 | 1209 | 100771821-100771823, 100771833-100771836 |
724 | RELN | 7 | 0.99884359641515 | 12 | 10377 | 103151348-103151351, 103191640, 103191645, 103244839-103244841, 103244845-103244846, 103338463 |
725 | SLC26A4 | 7 | 0.99189073836961 | 19 | 2343 | 107323647-107323662, 107323672, 107323681, 107323693 |
726 | SLC26A3 | 7 | 0.99825708061002 | 4 | 2295 | 107432351, 107432368-107432370 |
727 | DLD | 7 | 0.99869281045752 | 2 | 1530 | 107555986, 107555989 |
728 | IFRD1 | 7 | 0.98230088495575 | 24 | 1356 | 112101968, 112102115, 112102119-112102120, 112102127, 112102130-112102137, 112102187-112102197 |
729 | CFTR | 7 | 0.96736439342786 | 145 | 4443 | 117149178-117149182, 117171042-117171049, 117188713-117188753, 117188760-117188800, 117188842-117188853, 117235033, 117235044-117235045, 117235053-117235058, 117235061-117235073, 117235079-117235087, 117235096, 117235107-117235112 |
730 | AASS | 7 | 0.99928083423229 | 2 | 2781 | 121726201, 121769562 |
731 | IMPDH1 | 7 | 0.94777777777778 | 94 | 1800 | 128049828-128049842, 128049865-128049869, 128049882-128049955 |
732 | FLNC | 7 | 0.99902176571289 | 8 | 8178 | 128489035, 128498187-128498193 |
733 | BRAF | 7 | 0.99608865710561 | 9 | 2301 | 140494127, 140624404-140624410, 140624418 |
734 | PRSS1 | 7 | 0.8991935483871 | 75 | 744 | 142458434-142458454, 142459676-142459682, 142459868-142459878, 142460313, 142460335, 142460366-142460397, 142460752, 142460764 |
735 | CLCN1 | 7 | 0.9989888776542 | 3 | 2967 | 143017835-143017837 |
736 | CNTNAP2 | 7 | 0.99474474474474 | 21 | 3996 | 145813983-145813988, 145813994-145813997, 147914481-147914490, 147914500 |
737 | KCNH2 | 7 | 0.8448275862069 | 540 | 3480 | 150644140, 150644461, 150644464-150644466, 150644700, 150644708, 150644714-150644740, 150644748-150644755, 150644781, 150644811, 150648905, 150655154-150655160, 150655167-150655175, 150655210-150655232, 150655250-150655470, 150655492-150655498, 150655508, 150655512, 150655526, 150655535-150655537, 150655556, 150671848-150671902, 150671910-150671976, 150671982-150671991, 150672000-150672011, 150672029, 150674926-150675001 |
738 | PRKAG2 | 7 | 0.95906432748538 | 70 | 1710 | 151329155-151329224 |
739 | SHH | 7 | 0.69042476601872 | 430 | 1389 | 155595594-155595838, 155595849-155596005, 155596020-155596036, 155596094-155596100, 155596110, 155596114, 155596203, 155596354 |
740 | MNX1 | 7 | 0.69485903814262 | 368 | 1206 | 156798245, 156798249-156798252, 156798272, 156798284-156798293, 156798304, 156798320-156798326, 156798342, 156798377-156798379, 156799286, 156799289-156799291, 156802383-156802386, 156802391-156802392, 156802537-156802540, 156802543, 156802595-156802870, 156802881-156802919, 156802930-156802937, 156802941, 156802945 |
741 | MCPH1 | 8 | 0.99840510366826 | 4 | 2508 | 6357405-6357408 |
742 | GATA4 | 8 | 0.80361173814898 | 261 | 1329 | 11565826, 11565889, 11565893, 11565907, 11565994, 11566002, 11566018-11566027, 11566058-11566281, 11566303-11566308, 11566313-11566315, 11566351, 11566356, 11566359, 11566365-11566369, 11566400, 11566403-11566405 |
743 | ASAH1 | 8 | 0.99915824915825 | 1 | 1188 | 17941498 |
744 | FGFR1 | 8 | 0.99878197320341 | 3 | 2463 | 38285914-38285916 |
745 | ADAM9 | 8 | 0.99959349593496 | 1 | 2460 | 38940160 |
746 | ANK1 | 8 | 0.99894625922023 | 6 | 5694 | 41581121, 41753981-41753983, 41753986, 41753998 |
747 | HGSNAT | 8 | 0.93815513626834 | 118 | 1908 | 42995640-42995757 |
748 | RP1 | 8 | 0.9992273218977 | 5 | 6471 | 55538312, 55538316-55538319 |
749 | CHD7 | 8 | 0.99421836780076 | 52 | 8994 | 61654447, 61654452-61654458, 61654461, 61654464-61654477, 61734361-61734368, 61734583-61734601, 61749514, 61778281 |
750 | TTPA | 8 | 0.87574671445639 | 104 | 837 | 63998424-63998462, 63998470-63998471, 63998478-63998491, 63998507-63998514, 63998533-63998571, 63998579-63998580 |
751 | CYP7B1 | 8 | 0.99802761341223 | 3 | 1521 | 65528753-65528755 |
752 | EYA1 | 8 | 0.99775154581225 | 4 | 1779 | 72184049-72184052 |
753 | CA2 | 8 | 0.97828863346105 | 17 | 783 | 86376311-86376314, 86376319-86376324, 86376328-86376334 |
754 | TMEM67 | 8 | 0.99397590361446 | 18 | 2988 | 94768006-94768007, 94777680-94777691, 94777849, 94777856-94777857, 94811949 |
755 | GDF6 | 8 | 0.87719298245614 | 168 | 1368 | 97156942, 97157138-97157153, 97157158-97157166, 97157173-97157175, 97157214-97157223, 97157242-97157255, 97157258-97157261, 97157264, 97157273, 97157278-97157283, 97157326-97157328, 97157357-97157361, 97157364-97157365, 97157409-97157425, 97157434-97157479, 97157500-97157503, 97157509, 97157513, 97157532, 97172883-97172895, 97172911-97172920 |
756 | VPS13B | 8 | 0.99591462397866 | 49 | 11994 | 100123399, 100123415-100123437, 100123446-100123448, 100123459, 100123473-100123481, 100123488, 100160124-100160126, 100160130, 100514021, 100514033-100514036, 100514067, 100883855 |
757 | DPYS | 8 | 0.99615384615385 | 6 | 1560 | 105479046, 105479058-105479062 |
758 | EXT1 | 8 | 0.99821508255243 | 4 | 2241 | 118830725-118830728 |
759 | KCNQ3 | 8 | 0.97938144329897 | 54 | 2619 | 133492726-133492779 |
760 | NDRG1 | 8 | 0.99409282700422 | 7 | 1185 | 134274316-134274322 |
761 | CYP11B1 | 8 | 0.95767195767196 | 64 | 1512 | 143957128-143957132, 143958288-143958294, 143958513-143958533, 143958572-143958602 |
762 | CYP11B2 | 8 | 0.97949735449735 | 31 | 1512 | 143993946-143993962, 143994026-143994032, 143994701-143994705, 143996539, 143996553 |
763 | PLEC | 8 | 0.9760939167556 | 336 | 14055 | 144993152-144993154, 144993163-144993166, 144993324-144993326, 144993377-144993378, 144993431, 144993524, 144993739-144993756, 144994366, 144994369, 144994987-144994988, 144995055-144995057, 144995065, 144995356, 144995359, 144995830, 144996202, 144996234-144996246, 144996260, 144996263-144996268, 144996377, 144996403, 144996519, 144996524, 144996529, 144996541, 144996691-144996692, 144996984-144996989, 144997001-144997004, 144997100-144997104, 144997108, 144997133-144997136, 144997846, 144997887-144997891, 144997990, 144998462-144998472, 144998494, 144998498, 144998825, 144998857-144998862, 144998867, 144998873-144998922, 144998945-144998963, 144998972-144998981, 144998984, 144999057-144999061, 144999125, 144999384, 144999441-144999445, 144999752, 144999759-144999761, 144999768, 144999888, 145000017, 145000027, 145000036-145000038, 145000044, 145001722, 145001784, 145001897-145001908, 145003298-145003304, 145003343, 145003346, 145003383, 145003386-145003387, 145003831, 145003844, 145004198-145004217, 145004227-145004230, 145004328-145004333, 145004357, 145004368-145004391, 145005716-145005717, 145006159, 145006164-145006165, 145006184-145006188, 145006298-145006299, 145008166-145008182 |
764 | GPT | 8 | 0.97853789403085 | 32 | 1491 | 145730780, 145731271, 145731275, 145731283-145731284, 145731412, 145731453-145731462, 145731472-145731475, 145731887, 145731895-145731897, 145731919-145731924, 145732021, 145732031 |
765 | RECQL4 | 8 | 0.98042459332782 | 71 | 3627 | 145737909, 145743099-145743168 |
766 | DOCK8 | 9 | 0.99666666666667 | 21 | 6300 | 214977, 214995-215001, 439378, 452030, 452043-452045, 452048-452055 |
767 | KCNV2 | 9 | 0.98717948717949 | 21 | 1638 | 2718019, 2718023, 2718032, 2718328-2718334, 2718749-2718751, 2718764-2718767, 2718954-2718956, 2718968 |
768 | GLIS3 | 9 | 0.98209810239885 | 50 | 2793 | 4117937, 4118020-4118059, 4118085-4118093 |
769 | JAK2 | 9 | 0.99146807884672 | 29 | 3399 | 5069118, 5069123-5069128, 5069149-5069152, 5077483, 5077494, 5077499, 5077511-5077513, 5077517, 5077529, 5077550, 5077567-5077575 |
770 | GLDC | 9 | 0.99836761345087 | 5 | 3063 | 6645356-6645357, 6645364, 6645383, 6645465 |
771 | B4GALT1 | 9 | 0.99498746867168 | 6 | 1197 | 33167138-33167141, 33167144-33167145 |
772 | VCP | 9 | 0.99297810821974 | 17 | 2421 | 35059643-35059659 |
773 | FANCG | 9 | 0.99946495452113 | 1 | 1869 | 35078297 |
774 | TPM2 | 9 | 0.9953216374269 | 4 | 855 | 35682133-35682136 |
775 | FXN | 9 | 0.98420221169036 | 10 | 633 | 71650826, 71650857-71650863, 71668103-71668104 |
776 | TMC1 | 9 | 0.99956197985107 | 1 | 2283 | 75403399 |
777 | TRPM6 | 9 | 0.99802273850717 | 12 | 6069 | 77411727-77411738 |
778 | VPS13A | 9 | 0.98897637795276 | 105 | 9525 | 79820275-79820281, 79820321-79820324, 79841393, 79841423-79841425, 79862309-79862310, 79896801, 79898353, 79908409-79908424, 79929006, 79929012, 79929017-79929018, 79929456, 79930321-79930325, 79931123, 79931184-79931187, 79931191-79931192, 79931204, 79932569-79932573, 79932587-79932589, 79932598-79932602, 79932611-79932612, 79933163-79933164, 79933356-79933368, 79938113, 79946961, 79947012-79947029, 79974317, 79996931 |
779 | AUH | 9 | 0.99411764705882 | 6 | 1020 | 94124161-94124166 |
780 | ROR2 | 9 | 0.99329096045198 | 19 | 2832 | 94712211-94712217, 94712228-94712239 |
781 | PTCH1 | 9 | 0.9755985267035 | 106 | 4344 | 98209630-98209633, 98268793, 98270471-98270531, 98270584-98270622, 98270643 |
782 | FOXE1 | 9 | 0.47326203208556 | 591 | 1122 | 100616210-100616271, 100616324-100616356, 100616379-100616414, 100616420-100616436, 100616449-100616455, 100616462-100616485, 100616489, 100616497, 100616506-100616511, 100616532-100616561, 100616583, 100616603-100616617, 100616622, 100616628, 100616638, 100616643-100616644, 100616687-100616986, 100617058, 100617061-100617067, 100617078, 100617087-100617097, 100617111-100617141, 100617170-100617171 |
783 | TGFBR1 | 9 | 0.93584656084656 | 97 | 1512 | 101867488-101867584 |
784 | INVS | 9 | 0.98905565978737 | 35 | 3198 | 102988463, 103015389, 103015393, 103046727-103046758 |
785 | BAAT | 9 | 0.99920445505171 | 1 | 1257 | 104133682 |
786 | IKBKAP | 9 | 0.99974993748437 | 1 | 3999 | 111656322 |
787 | MUSK | 9 | 0.99731800766284 | 7 | 2610 | 113562942-113562945, 113562951-113562953 |
788 | DFNB31 | 9 | 0.97209985315712 | 76 | 2724 | 117240866, 117266817-117266818, 117266821-117266826, 117266842-117266865, 117266870, 117266912-117266915, 117266925-117266936, 117266939, 117266943-117266948, 117266960-117266965, 117266973-117266976, 117266989, 117267001-117267008 |
789 | NR5A1 | 9 | 0.99350649350649 | 9 | 1386 | 127245163-127245168, 127245185, 127265575, 127265589 |
790 | LMX1B | 9 | 0.89276139410188 | 120 | 1119 | 129376806, 129376836, 129376849, 129377662-129377748, 129377760-129377773, 129377782, 129456049-129456051, 129456057-129456067, 129456078 |
791 | STXBP1 | 9 | 0.97792494481236 | 40 | 1812 | 130374683-130374719, 130415998-130415999, 130416010 |
792 | GLE1 | 9 | 0.99761564139247 | 5 | 2097 | 131285999-131286003 |
793 | TOR1A | 9 | 0.99299299299299 | 7 | 999 | 132586324-132586328, 132586333, 132586345 |
794 | SETX | 9 | 0.99713716704008 | 23 | 8034 | 135139875-135139881, 135139897, 135139901, 135153597, 135153601-135153603, 135158653-135158659, 135158664, 135158667-135158668 |
795 | TSC1 | 9 | 0.99685264663805 | 11 | 3495 | 135771988-135771990, 135771993-135771997, 135777002-135777004 |
796 | CEL | 9 | 0.8300308234258 | 386 | 2271 | 135944521-135944528, 135944583-135944589, 135945994-135946018, 135946654-135946999 |
797 | SURF1 | 9 | 0.96345514950166 | 33 | 903 | 136223168, 136223285, 136223290-136223305, 136223307-136223320, 136223329 |
798 | ADAMTS13 | 9 | 0.97408963585434 | 111 | 4284 | 136293754-136293833, 136293837, 136293856-136293884, 136308643 |
799 | SARDH | 9 | 0.99709829524846 | 8 | 2757 | 136535738-136535744, 136555502 |
800 | COL5A1 | 9 | 0.98024288562625 | 109 | 5517 | 137534034-137534141, 137726883 |
801 | LHX3 | 9 | 0.89247311827957 | 130 | 1209 | 139089332, 139089335, 139089344-139089345, 139089360-139089363, 139089374, 139090771-139090776, 139090779-139090823, 139090841-139090844, 139090867-139090905, 139094817-139094839, 139094878-139094881 |
802 | INPP5E | 9 | 0.95813953488372 | 81 | 1935 | 139327013-139327016, 139333153-139333163, 139333166, 139333192, 139333201, 139333312-139333318, 139333327-139333329, 139333332-139333345, 139333348, 139333633-139333634, 139333836-139333871 |
803 | NOTCH1 | 9 | 0.98982785602504 | 78 | 7668 | 139390977, 139391168-139391178, 139391553, 139391830-139391831, 139391877, 139391991, 139407482, 139440179-139440238 |
804 | AGPAT2 | 9 | 0.83990442054958 | 134 | 837 | 139581663-139581686, 139581698-139581710, 139581713-139581809 |
805 | SLC34A3 | 9 | 0.96388888888889 | 65 | 1800 | 140128324-140128377, 140128587, 140128614, 140128617, 140128627, 140128900, 140130760-140130763, 140130775-140130776 |
806 | EHMT1 | 9 | 0.99409802412112 | 23 | 3897 | 140513481-140513501, 140637823-140637824 |
807 | KAL1 | X | 0.9985315712188 | 3 | 2043 | 8699935-8699937 |
808 | ARX | X | 0.82711663706335 | 292 | 1689 | 25031269-25031289, 25031299, 25031311, 25031474, 25031545-25031812 |
809 | RPGR | X | 0.95229835212489 | 165 | 3459 | 38145324-38145367, 38145412, 38145448-38145489, 38145499-38145502, 38145525-38145530, 38145538-38145570, 38145603, 38145647-38145680 |
810 | NYX | X | 0.90594744121715 | 136 | 1446 | 41332874-41332880, 41332935-41332976, 41333000-41333005, 41333016-41333043, 41333071-41333104, 41333260-41333265, 41333275-41333282, 41333359-41333363 |
811 | SYN1 | X | 0.97167138810198 | 60 | 2118 | 47433520, 47433640, 47433645, 47433669-47433674, 47433679, 47433692-47433739, 47433843, 47433905 |
812 | CFP | X | 0.99148936170213 | 12 | 1410 | 47488964-47488975 |
813 | WAS | X | 0.99072233267064 | 14 | 1509 | 48547187-48547199, 48547238 |
814 | AR | X | 0.97864639884184 | 59 | 2763 | 66765155, 66765158-66765159, 66765165-66765170, 66765176-66765203, 66766363-66766374, 66766379-66766386, 66766396-66766397 |
815 | DLG3 | X | 0.99714751426243 | 7 | 2454 | 69665053-69665055, 69665284-69665287 |
816 | MED12 | X | 0.99280685644322 | 47 | 6534 | 70338619-70338624, 70338635-70338642, 70338649-70338654, 70338671, 70338678-70338703 |
817 | GJB1 | X | 0.99530516431925 | 4 | 852 | 70444376-70444379 |
818 | TAF1 | X | 0.9706089405139 | 167 | 5682 | 70586165-70586295, 70586304-70586305, 70586308-70586310, 70586314-70586344 |
819 | ATRX | X | 0.99919775371039 | 6 | 7479 | 76763924-76763929 |
820 | BRWD3 | X | 0.99759659826216 | 13 | 5409 | 80064958-80064970 |
821 | ZNF711 | X | 0.99912510936133 | 2 | 2286 | 84523300-84523301 |
822 | PCDH19 | X | 0.99879007864489 | 4 | 3306 | 99663576-99663579 |
823 | HPRT1 | X | 0.97260273972603 | 18 | 657 | 133594342-133594357, 133594367-133594368 |
824 | ZIC3 | X | 0.98504273504274 | 21 | 1404 | 136648985-136648987, 136651117-136651133, 136651217 |
825 | SOX3 | X | 0.7337807606264 | 357 | 1341 | 139585901-139585937, 139585954, 139585962-139585987, 139586045-139586051, 139586077-139586084, 139586146-139586175, 139586195-139586203, 139586222-139586434, 139586452-139586477 |
826 | SLC6A8 | X | 0.86268343815514 | 262 | 1908 | 152954030-152954291 |
827 | ABCD1 | X | 0.98972296693476 | 23 | 2238 | 153008675-153008678, 153009137-153009155 |
828 | MECP2 | X | 0.95858383433534 | 62 | 1497 | 153363061-153363122 |
829 | OPN1MW | X | 0.99360730593607 | 7 | 1095 | 153455595-153455601 |
830 | OPN1MW | X | 0.99360730593607 | 7 | 1095 | 153492713-153492719 |
831 | USP9Y | Y | 0.99387063119457 | 47 | 7668 | 14898529-14898575 |
Effect rank | Variant | Phase/ Zygosity | Allele freq | Impact | Evaluation | Summary / Info |
---|---|---|---|---|---|---|
3 | DRD2-S311C | homozygous | 0.023 | Unknown pharmacogenetic | Insufficiently evaluated | Prioritization score: 4 Polyphen 2: 0.799 (possibly damaging), Testable gene in GeneTests with associated GeneReview |
3 | LPL-S474* | homozygous | 0.096 | Unknown protective | Low clinical importance, uncertain | This variant actually increases LPL enzyme activity despite creating a termination codon (see Rip J et al). It appears to be a protective variant, associated with lower triglyceride levels--although the effect is quite weak and explains only 0.5-1% of triglyceride variation. |
2.5 | RET-G691S | het unknown | 0.167 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.16 (benign), Testable gene in GeneTests with associated GeneReview |
2.5 | RET-R982C | het unknown | 0.016 | Unknown pathogenic | Insufficiently evaluated | Prioritization score: 6 Polyphen 2: 0.885 (probably damaging), Testable gene in GeneTests with associated GeneReview |
2.5 | JAK2-V617F | het unknown | Unknown pathogenic | Insufficiently evaluated | Prioritization score: 5 Polyphen 2: 0.997 (probably damaging), Testable gene in GeneTests | |
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-W112R | homozygous | 0.945 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
2.5 | CPN1-G178D | het unknown | 0.016 | Unknown pathogenic | Insufficiently evaluated | Prioritization score: 5 Polyphen 2: 0.982 (probably damaging), Testable gene in GeneTests |
2.5 | C3-P314L | het unknown | 0.079 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.159 (benign), Testable gene in GeneTests with associated GeneReview |
2.5 | C3-R102G | het unknown | 0.053 | Complex/Other pathogenic | Moderate clinical importance, likely | This variant (also called C3F) is common in Europeans (10.2% allele frequency), and is associated with age-related macular degeneration. In the US, 1.5% of adults over 40 have the disease, but the incidence increases strongly with age (>15% in women over 80). Assuming an average lifetime risk of ~10%, heterozygous individuals have a ~13% risk and homozygous have ~20%. |
2.5 | PRODH-R521Q | homozygous | 0.887 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: Unknown, Testable gene in GeneTests |
2.5 | PRODH-L289M | het unknown | Unknown pathogenic | Insufficiently evaluated | Prioritization score: 4 Polyphen 2: Unknown, Testable gene in GeneTests | |
2.5 | PRODH-W185R | het unknown | 0.826 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: Unknown, Testable gene in GeneTests |
2 | SEMA4A-R713Q | het unknown | 0.062 | Unknown pathogenic | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: 0.553 (possibly damaging), Testable gene in GeneTests |
2 | NEFL-S472Shift | homozygous | Unknown | Insufficiently evaluated | Prioritization score: 4 Frameshift, 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 | PRNP-M129V | homozygous | 0.258 | Complex/Other protective | Low clinical importance, well-established | This variant is associated with some protective effects for prion disease -- individuals homozygous for this variant are less susceptible to Creutzfeldt-Jakob, and Papua New Guinea individuals heterozygotes at this site are less susceptible to kuru. |
1.5 | ADRB2-G16R | het unknown | 0.477 | Unknown pharmacogenetic | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.001 (benign), Testable gene in GeneTests |
1.5 | ADRB2-E27Q | homozygous | 0.773 | Unknown pharmacogenetic | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.001 (benign), Testable gene in GeneTests |
1.5 | ADRB2-T164I | het unknown | 0.008 | Unknown pharmacogenetic | Low clinical importance, uncertain | Summary for this variant not displayed. It may contain a Unicode character preventing it from being properly processed. |
1.5 | PPARG-P12A | het unknown | 0.051 | Unknown pharmacogenetic | Insufficiently evaluated | Prioritization score: 4 Polyphen 2: 0.979 (probably damaging), Testable gene in GeneTests |
1.25 | TP53-P72R | het unknown | 0.550 | Unknown pathogenic | Low clinical importance, uncertain | This is a common variant was first reported as a polymorphism. It has since had mixed associations with cancer: Storey et al. conclude a 7x *increased* risk of HPV cancer for homozygotes vs hets, but Jones et al. find a 1.98x *decreased* risk for colorectal cancer. This variant may have significant impact on particular cancers, but it is unclear what effect it has on the overall burden of cancer. |
1.25 | RNASEL-D541E | homozygous | 0.470 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: Unknown, Testable gene in GeneTests |
1.25 | RNASEL-R462Q | het unknown | 0.208 | Complex/Other pathogenic | Low clinical importance, uncertain | Associated with increased risk of prostate cancer in individuals who already have a family history of prostate cancer, but studies have been unable to replicate this finding in sporadic (non-familial) prostate cancer cases. |
1 | FLT4-R1146H | homozygous | 0.032 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.003 (benign), Testable gene in GeneTests with associated GeneReview |
1 | 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 |
1 | FLT4-N149D | homozygous | 0.023 | Unknown benign | Low clinical importance, likely | Other severe variants in this gene are implicated in causing Milroy Disease (primary lymphedema) in a recessive manner. Although this variant is rare (2.3% allele frequency), it is still common enough that it is highly unlikely to have a severe, high penetrance pathogenic effect. |
1 | GCKR-S183F | het unknown | Unknown | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: Unknown | |
1 | GCKR-L446P | homozygous | 0.673 | Unknown pharmacogenetic | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown |
1 | GCKR-R478H | het unknown | Unknown | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: Unknown | |
1 | CYP1B1-N453S | homozygous | 0.094 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.837 (possibly damaging), Testable gene in GeneTests with associated GeneReview |
1 | CYP1B1-V432L | homozygous | 0.547 | Unknown pharmacogenetic | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
1 | CYP1B1-A119S | het unknown | 0.080 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
1 | KCP-H313Shift | homozygous | Unknown | Insufficiently evaluated | Prioritization score: 2 Frameshift | |
1 | EYS-R2326Q | homozygous | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests | |
1 | EYS-N1902I | homozygous | 0.316 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: Unknown, Testable gene in GeneTests |
1 | EYS-L1873V | het unknown | 0.081 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: Unknown, Testable gene in GeneTests |
1 | EYS-S1517G | het unknown | 0.099 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: Unknown, Testable gene in GeneTests |
1 | EYS-R1515W | het unknown | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests | |
1 | EYS-I1451T | het unknown | 0.099 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: Unknown, Testable gene in GeneTests |
1 | EYS-L1419S | homozygous | 0.780 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: Unknown, Testable gene in GeneTests |
1 | EYS-I1361V | het unknown | 0.098 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: Unknown, Testable gene in GeneTests |
1 | EYS-Q1325E | het unknown | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests | |
1 | EYS-I1263V | het unknown | 0.098 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: Unknown, Testable gene in GeneTests |
1 | EYS-L852P | het unknown | 0.655 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: Unknown, Testable gene in GeneTests |
1 | EYS-E641V | het unknown | 0.112 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: Unknown, Testable gene in GeneTests |
1 | EYS-G631S | het unknown | 0.596 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: Unknown, Testable gene in GeneTests |
1 | HADHB-T2TT | homozygous | 0.008 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests |
1 | CYP4F2-V433M | homozygous | 0.216 | Recessive pharmacogenetic | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.309 (possibly damaging) |
1 | APOE-C130R | het unknown | 0.010 | Complex/Other pharmacogenetic | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.002 (benign), Testable gene in GeneTests |
1 | NEURL4-R1406H | homozygous | 0.023 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.912 (probably damaging) |
1 | ADH1B-H48R | homozygous | 0.678 | Unknown pharmacogenetic | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown |
1 | BC040901-C89W | homozygous | 0.706 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
1 | BC040901-P93S | homozygous | 0.548 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
1 | BC040901-A106Shift | homozygous | 0.016 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Frameshift |
1 | HSH2D-S223Shift | homozygous | 0.016 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Frameshift |
1 | ATG9B-A765Shift | homozygous | Unknown | Insufficiently evaluated | Prioritization score: 2 Frameshift | |
1 | ICAM1-G241R | het unknown | 0.060 | Unknown pharmacogenetic | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: 0.948 (probably damaging) |
1 | ICAM1-K469E | homozygous | 0.297 | Unknown pharmacogenetic | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown |
1 | SH2B1-T484A | homozygous | 0.217 | Unknown pharmacogenetic | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown |
1 | VDR-M1T | homozygous | 0.687 | Unknown pharmacogenetic | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: 0.999 (probably damaging), Testable gene in GeneTests |
1 | CUL7-Q813R | homozygous | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview | |
1 | KRT4-Q230R | het unknown | 0.301 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: Unknown, Testable gene in GeneTests |
1 | KRT4-G160GAGGFGAGFGTGGFG | homozygous | 0.008 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests |
1 | KRT4-A146V | het unknown | 0.241 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: Unknown, Testable gene in GeneTests |
1 | SPG7-T503A | het unknown | 0.095 | Unknown pharmacogenetic | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: 0.001 (benign), Testable gene in GeneTests with associated GeneReview |
1 | SPG7-R688Q | het unknown | 0.072 | Unknown pharmacogenetic | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: 0.203 (possibly damaging), Testable gene in GeneTests with associated GeneReview |
1 | 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 | 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 | AIM1-E1196A | homozygous | 0.935 | Unknown pharmacogenetic | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.015 (benign) |
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 | homozygous | 0.206 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: 0.999 (probably damaging) |
1 | SCARB1-G2S | het unknown | Unknown pharmacogenetic | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: 0.937 (probably damaging) | |
1 | ALG1L2-L157Shift | homozygous | Unknown | Insufficiently evaluated | Prioritization score: 2 Frameshift | |
1 | FUT2-W154* | homozygous | 0.364 | Unknown pharmacogenetic | Insufficiently evaluated | Prioritization score: 2 Nonsense mutation |
1 | FUT2-G258S | homozygous | 0.390 | Unknown pharmacogenetic | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: 0.954 (probably damaging) |
1 | ZNF167-N494Shift | homozygous | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Frameshift | |
1 | B3GNT6-L316Shift | homozygous | Unknown | Insufficiently evaluated | Prioritization score: 2 Frameshift | |
1 | B3GNT6-L335Shift | homozygous | Unknown | Insufficiently evaluated | Prioritization score: 2 Frameshift | |
1 | RPGRIP1L-A1183G | het unknown | 0.008 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 4 Polyphen 2: 0.906 (probably damaging), Testable gene in GeneTests with associated GeneReview |
1 | RPGRIP1L-T1143S | het unknown | 0.086 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
1 | AK094914-K152N | homozygous | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: Unknown | |
1 | AK094914-T33Shift | homozygous | Unknown | Insufficiently evaluated | Prioritization score: 2 Frameshift | |
1 | AK094914-M25Shift | het unknown | Unknown | Insufficiently evaluated | Prioritization score: 2 Frameshift | |
1 | AK094914-C16Shift | het unknown | Unknown | Insufficiently evaluated | Prioritization score: 2 Frameshift | |
1 | AK094914-A13Shift | het unknown | Unknown | Insufficiently evaluated | Prioritization score: 2 Frameshift | |
1 | PIK3R6-L609Shift | homozygous | Unknown | Insufficiently evaluated | Prioritization score: 2 Frameshift | |
1 | SCN5A-F1950L | het unknown | Unknown | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview | |
1 | SCN5A-H558R | homozygous | 0.215 | Unknown pharmacogenetic | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
1 | TTN-I23649T | het unknown | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview | |
1 | TTN-A19840P | homozygous | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview | |
1 | TTN-K11752E | het unknown | 0.056 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 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-D6352H | het unknown | 0.008 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 3 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-S1772G | het unknown | Unknown | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview | |
1 | TTN-S1295L | homozygous | 0.881 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
1 | TTN-K1201E | homozygous | 0.519 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
1 | 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 | het unknown | 0.145 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.032 (benign), Testable gene in GeneTests with associated GeneReview |
1 | PLEC-A3171V | het unknown | 0.039 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
1 | PLEC-R2969H | homozygous | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview | |
1 | PLEC-S2791P | homozygous | 0.272 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
1 | PLEC-A2194V | homozygous | 0.210 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
1 | PLEC-H1459R | homozygous | 0.512 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
1 | PLEC-R1386Q | homozygous | 0.276 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
1 | PLEC-A641V | homozygous | 0.210 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
1 | FSTL4-E353D | homozygous | 0.008 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.993 (probably damaging) |
1 | CILP-G1166S | homozygous | 0.766 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
1 | CILP-Q979R | homozygous | 0.986 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
1 | CILP-K575E | homozygous | 0.974 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
1 | CILP-I395T | het unknown | 0.491 | Unknown pathogenic | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown |
1 | IL13-Q144R | homozygous | 0.766 | Unknown pharmacogenetic | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown |
1 | C5orf20-R117* | homozygous | Unknown | Insufficiently evaluated | Prioritization score: 2 Nonsense mutation | |
1 | C5orf20-N97D | homozygous | Unknown | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: Unknown | |
1 | C5orf20-T75P | homozygous | Unknown | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: Unknown | |
1 | NR_027127-W61* | homozygous | Unknown | Insufficiently evaluated | Prioritization score: 2 Nonsense mutation | |
1 | CHRNA5-D398N | het unknown | 0.158 | Unknown pathogenic | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.003 (benign) |
1 | VSIG10L-Q860Shift | homozygous | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Frameshift | |
1 | VSIG10L-R592Q | homozygous | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: Unknown | |
1 | VSIG10L-M356I | homozygous | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: Unknown | |
1 | VSIG10L-N3T | homozygous | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: Unknown | |
1 | FAM83F-R436G | homozygous | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.939 (probably damaging) | |
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 | SEPN1-C108Y | homozygous | 0.789 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
1 | SEPN1-N467K | homozygous | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview | |
1 | RPS6KA3-I38S | homozygous | 0.011 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
1 | RAB40A-H45L | homozygous | 0.022 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.907 (probably damaging) |
1 | PADI6-V343Shift | homozygous | 0.016 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Frameshift |
1 | FAM58A-Q15Shift | homozygous | Unknown | Insufficiently evaluated | Prioritization score: 3 Frameshift, Testable gene in GeneTests | |
1 | FAM58A-G4Shift | homozygous | Unknown | Insufficiently evaluated | Prioritization score: 3 Frameshift, Testable gene in GeneTests | |
1 | TCEAL6-Q175Shift | homozygous | 0.022 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Frameshift |
1 | ATP7A-V767L | homozygous | 0.332 | Unknown pharmacogenetic | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
1 | ATP7A-E1350K | homozygous | 1.000 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
1 | ZNF674-R201* | homozygous | Unknown | Insufficiently evaluated | Prioritization score: 3 Nonsense mutation, Testable gene in GeneTests | |
1 | BC112980-K147Shift | homozygous | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Frameshift | |
1 | DGKK-L1014Shift | homozygous | Unknown | Insufficiently evaluated | Prioritization score: 2 Frameshift | |
1 | ENG-V504M | het unknown | 0.016 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 4 Polyphen 2: 0.985 (probably damaging), Testable gene in GeneTests with associated GeneReview |
1 | ALG6-S306F | homozygous | Unknown | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview | |
1 | HRNR-H2772R | het unknown | 0.516 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
1 | HRNR-HR2748QH | het unknown | Unknown | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: Unknown | |
1 | HRNR-Y2746H | het unknown | Unknown | Insufficiently evaluated | Prioritization score: 1 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-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-G427D | het unknown | 0.357 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
1 | HRNR-Q376R | homozygous | 1.000 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
1 | HRNR-H273Q | het unknown | 0.383 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
1 | HRNR-R85H | 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 | NR_027242-N339Shift | het unknown | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Frameshift | |
1 | NR_027242-L114P | homozygous | Unknown | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: Unknown | |
1 | NR_027242-Q97Shift | homozygous | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Frameshift | |
1 | NR_027242-L22P | homozygous | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: Unknown | |
1 | NPRL3-L489Shift | homozygous | 0.048 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Frameshift |
1 | KRTAP7-1-Y17Shift | homozygous | Unknown | Insufficiently evaluated | Prioritization score: 2 Frameshift | |
1 | FTCD-A438V | homozygous | 0.031 | 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 | DEFB126-P106Shift | homozygous | 0.023 | 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 | CHIT1-V357V* | het unknown | 0.016 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Nonsense mutation, 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 | ZNF761-L47Shift | homozygous | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Frameshift | |
1 | ZNF761-I122S | homozygous | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: Unknown | |
1 | ZNF761-V168I | homozygous | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: Unknown | |
1 | PLEKHA2-P389Shift | homozygous | 0.032 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Frameshift |
1 | COL18A1-A683T | het unknown | Unknown | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests | |
1 | COL18A1-PGP1362Del | homozygous | Unknown | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests | |
1 | AMPD1-P48L | het unknown | 0.047 | Unknown benign | Low clinical importance, uncertain | Probably benign, ancestral to15173240 pathogenic Q12X mutation. |
1 | AMPD1-Q12* | het unknown | 0.041 | Recessive pathogenic | Low clinical importance, likely | Causes Adenosine Deaminase Deficiency in a recessive manner. Most of the time individuals do not report symptoms, but when symptoms do exist they to be post-exercise symptoms of muscle weakness, muscle pain, and getting tired more quickly. |
0.75 | NPC1-I858V | het unknown | 0.480 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.061 (benign), Testable gene in GeneTests with associated GeneReview |
0.75 | NPC1-M642I | het unknown | 0.863 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
0.75 | NPC1-P237S | het unknown | Unknown | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview | |
0.75 | NPC1-H215R | het unknown | 0.222 | Complex/Other protective | Low clinical importance, likely | This variant is associated with a reduced risk of obesity, with an additive effect of -0.084 BMI per allele (an average of 0.54 pounds less, per allele, in a 5'6" individual). |
0.75 | NAT2-R197Q | het unknown | 0.272 | Recessive pharmacogenetic | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown |
0.75 | NAT2-R268K | homozygous | 0.675 | Unknown pharmacogenetic | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: Unknown |
0.75 | NAT2-G286E | het unknown | 0.065 | Recessive pharmacogenetic | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown |
0.5 | ZNF204P-W209* | het unknown | Unknown | Insufficiently evaluated | Prioritization score: 2 Nonsense mutation | |
0.5 | ZNF204P-E93Q | het unknown | Unknown | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: Unknown | |
0.5 | ZNF204P-K6Shift | het unknown | Unknown | Insufficiently evaluated | Prioritization score: 2 Frameshift | |
0.5 | KIAA1949-G339R | het unknown | 0.050 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.995 (probably damaging) |
0.5 | PKHD1-Q4048R | het unknown | 0.566 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
0.5 | PKHD1-Q3899R | het unknown | 0.546 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
0.5 | PKHD1-L1870V | homozygous | 0.905 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
0.5 | PKHD1-N830S | het unknown | 0.099 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
0.5 | PROP1-P196L | het unknown | Unknown | 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 | 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 | 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-L145R | homozygous | 0.293 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
0.5 | HLA-H-A147V | homozygous | 0.278 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 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 | 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 | 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 | 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 | 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-Q57E | homozygous | 0.203 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
0.5 | HLA-DQA1-E73L | het unknown | Unknown | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview | |
0.5 | HLA-DQA1-G79R | het unknown | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview | |
0.5 | HLA-DQA1-G84F | het unknown | 0.122 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
0.5 | HLA-DQA1-A92L | het unknown | 0.151 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
0.5 | HLA-DQA1-Q152H | het unknown | 0.526 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
0.5 | HLA-DQA1-Q198E | het unknown | 0.362 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
0.5 | HLA-DQA1-M230V | homozygous | 0.782 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
0.5 | OR2Y1-V200L | het unknown | 0.913 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: 0.784 (possibly damaging) |
0.5 | OR2Y1-V154M | het unknown | 0.016 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: Unknown |
0.5 | OR2Y1-R128C | het unknown | 0.013 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.998 (probably damaging) |
0.5 | SGCD-R96Q | het unknown | 0.023 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
0.5 | UNC5CL-P499R | het unknown | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.998 (probably damaging) | |
0.5 | KCNMB1-E65K | het unknown | 0.086 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown |
0.5 | HSP90AB1-R604Q | het unknown | 0.020 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.888 (probably damaging) |
0.5 | HSPA1L-E602K | het unknown | 0.225 | Unknown pharmacogenetic | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: 0.001 (benign) |
0.5 | HSPA1L-T493M | homozygous | 0.868 | Unknown pharmacogenetic | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: 0.001 (benign) |
0.5 | TUBB2B-S413N | het unknown | Unknown | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests | |
0.5 | TUBB2B-E412T | het unknown | Unknown | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests | |
0.5 | TNXB-G2518E | homozygous | 0.658 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
0.5 | TNXB-H1161R | het unknown | 0.568 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
0.5 | TNXB-T302A | het unknown | 0.030 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
0.5 | ABCB1-S893A | homozygous | 0.625 | Unknown pharmacogenetic | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: Unknown |
0.5 | 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 | RP1-N985Y | homozygous | 0.206 | Unknown benign | Low clinical importance, uncertain | Probably benign. One report linked this variant to high triglycerides, but a later paper found a nearby SNP with similar association and suggests that both findings are caused by linkage to an undiscovered causal variant. |
0.5 | RP1-C2033Y | homozygous | 0.186 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.957 (probably damaging), Testable gene in GeneTests |
0.5 | PEX2-C184R | homozygous | 0.990 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
0.5 | CNGB3-I307V | het unknown | 0.062 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.001 (benign), Testable gene in GeneTests with associated GeneReview |
0.5 | CNGB3-T298P | het unknown | 0.681 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.007 (benign), Testable gene in GeneTests with associated GeneReview |
0.5 | CNGB3-C234W | homozygous | 0.939 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
0.5 | FGL1-Y140F | het unknown | 0.008 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.999 (probably damaging) |
0.5 | FGL1-P105L | het unknown | 0.158 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: 0.005 (benign) |
0.5 | FGL1-I72V | het unknown | 0.400 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: 0.003 (benign) |
0.5 | FGL1-T15I | homozygous | 0.696 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
0.5 | MTUS1-S267P | het unknown | 0.016 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.991 (probably damaging) |
0.5 | MTUS1-C148R | het unknown | 0.659 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: 0.986 (probably damaging) |
0.5 | METTL2B-V68I | het unknown | 0.103 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: 0.001 (benign) |
0.5 | METTL2B-V266I | homozygous | 0.923 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
0.5 | METTL2B-R302Q | het unknown | 0.031 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 1.0 (probably damaging) |
0.5 | ATP6V0A4-M580T | het unknown | 0.125 | Recessive pathogenic | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests |
0.5 | ATP6V0A4-V2A | homozygous | 0.680 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: Unknown, Testable gene in GeneTests |
0.5 | MCPH1-R171S | homozygous | 0.865 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
0.5 | MCPH1-D314H | homozygous | 0.648 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.136 (benign), Testable gene in GeneTests with associated GeneReview |
0.5 | MCPH1-D392G | homozygous | 0.979 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
0.5 | MCPH1-A761V | het unknown | 0.504 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
0.5 | MCPH1-P828S | het unknown | 0.241 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
0.5 | NBN-E185Q | homozygous | 0.338 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
0.5 | TMEM67-I604V | homozygous | 0.710 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
0.5 | ABCA1-L1648V | het unknown | 0.043 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests |
0.5 | ABCA1-K1587R | homozygous | 0.486 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: Unknown, Testable gene in GeneTests |
0.5 | ABCA1-R219K | het unknown | 0.498 | Unknown pharmacogenetic | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests |
0.5 | DFNB31-N796K | het unknown | 0.197 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
0.5 | DFNB31-V783A | het unknown | 0.405 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
0.5 | DFNB31-H752Q | homozygous | 0.983 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
0.5 | DFNB31-P676R | het unknown | Unknown | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview | |
0.5 | DFNB31-M613T | het unknown | 0.487 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
0.5 | DFNB31-P562A | het unknown | 0.036 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
0.5 | DFNB31-A440T | het unknown | 0.197 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
0.5 | DFNB31-R364H | homozygous | 0.968 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
0.5 | 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 | NOL8-K165R | het unknown | 0.016 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.98 (probably damaging) |
0.5 | ROR2-V819I | homozygous | 0.798 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
0.5 | ROR2-T245A | homozygous | 0.619 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
0.5 | GSDMC-M475T | homozygous | 0.740 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
0.5 | GSDMC-P23S | het unknown | 0.026 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 1.0 (probably damaging) |
0.5 | RECQL4-R1005Q | het unknown | 0.258 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
0.5 | RECQL4-R766Shift | homozygous | 0.278 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 3 Frameshift, Testable gene in GeneTests with associated GeneReview |
0.5 | RECQL4-E267D | het unknown | 0.471 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
0.5 | RECQL4-S92P | homozygous | 1.000 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
0.5 | PLEKHG5-G866S | het unknown | 0.031 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: 0.003 (benign), Testable gene in GeneTests |
0.5 | PLEKHG5-M496V | het unknown | 0.034 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.795 (possibly damaging), Testable gene in GeneTests |
0.5 | PLEKHG5-T294S | het unknown | 0.267 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: Unknown, Testable gene in GeneTests |
0.5 | KIF24-W218L | het unknown | 0.050 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.999 (probably damaging) |
0.5 | TSC22D4-R384W | het unknown | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.995 (probably damaging) | |
0.5 | CYP3A7-R409T | homozygous | 0.669 | Unknown pharmacogenetic | Insufficiently evaluated | Prioritization score: 1 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 | SHPRH-S969C | het unknown | 0.017 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.871 (probably damaging) |
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-T6822S | het unknown | Unknown | Insufficiently evaluated | Prioritization score: 3 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 | homozygous | 0.539 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.005 (benign), Testable gene in GeneTests with associated GeneReview |
0.5 | SYNE1-A2795V | het unknown | 0.260 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.001 (benign), Testable gene in GeneTests with associated GeneReview |
0.5 | SYNE1-V1035A | het unknown | 0.632 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.673 (possibly damaging), Testable gene in GeneTests with associated GeneReview |
0.5 | EYA4-G277S | homozygous | 0.467 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.697 (possibly damaging), Testable gene in GeneTests with associated GeneReview |
0.5 | ROS1-S2229C | het unknown | 0.005 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: Unknown |
0.5 | ROS1-K2228Q | het unknown | 0.140 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
0.5 | ROS1-D2213N | het unknown | 0.135 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: 0.003 (benign) |
0.5 | ROS1-R167Q | het unknown | 0.048 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.983 (probably damaging) |
0.5 | LCA5-G656D | homozygous | 0.377 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
0.5 | LCA5-L24S | homozygous | 0.904 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.001 (benign), Testable gene in GeneTests with associated GeneReview |
0.5 | UBE2CBP-S381Y | het unknown | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.997 (probably damaging) | |
0.5 | RSPH4A-R556H | homozygous | 0.203 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: 1.0 (probably damaging), Testable gene in GeneTests with associated GeneReview |
0.5 | RSPH4A-L589P | homozygous | 0.707 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
0.5 | SOD2-V16A | homozygous | 0.362 | Unknown pharmacogenetic | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: Unknown |
0.5 | PARK2-V380L | homozygous | 0.169 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
0.5 | SLC22A4-I306T | homozygous | 0.588 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: 0.001 (benign) |
0.5 | SLC22A4-L503F | het unknown | 0.142 | Unknown pharmacogenetic | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown |
0.5 | AKAP9-M463I | het unknown | 0.376 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: Unknown, Testable gene in GeneTests |
0.5 | AKAP9-K1335KQ | het unknown | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests | |
0.5 | AKAP9-N2792S | het unknown | 0.271 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: Unknown, Testable gene in GeneTests |
0.5 | AKAP9-P2979S | homozygous | 0.997 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: Unknown, Testable gene in GeneTests |
0.5 | COL1A2-P549A | homozygous | 0.907 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
0.5 | EGFR-R521K | het unknown | 0.259 | Unknown pharmacogenetic | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests |
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 | AK125766-R117H | homozygous | 0.133 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
0.5 | AK125766-V114I | homozygous | 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-T1038A | het unknown | 0.747 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
0.5 | DNAH11-N2641S | het unknown | 0.367 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
0.5 | DNAH11-R3004Q | het unknown | Unknown | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview | |
0.5 | DNAH11-A3474T | het unknown | 0.501 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
0.5 | DNAH11-R3587H | het unknown | Unknown | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview | |
0.5 | DNAH11-M4172V | het unknown | 0.334 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
0.5 | DNAH11-T4177I | het unknown | 0.359 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
0.5 | NFE2L3-E230G | het unknown | 0.016 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.995 (probably damaging) |
0.5 | GLI3-T183A | homozygous | 0.663 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
0.5 | CPN2-Q509W | het unknown | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests | |
0.5 | FBN2-S2580L | het unknown | 0.091 | Dominant benign | Low clinical importance, uncertain | Probably benign -- initially associated with congenital contractual arachnodactyly, but later reports classify it as a nonpathogenic polymorphism. |
0.5 | FBN2-V965I | homozygous | 0.714 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
0.5 | FBN2-P326S | het unknown | Unknown | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview | |
0.5 | C2orf71-S1225SS | het unknown | Unknown | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests | |
0.5 | C2orf71-T580M | het unknown | Unknown | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests | |
0.5 | C2orf71-K421R | het unknown | Unknown | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests | |
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 | MCEE-A76V | homozygous | 0.177 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
0.5 | APOB-S4338N | het unknown | 0.725 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: Unknown, Testable gene in GeneTests |
0.5 | APOB-P2739L | het unknown | 0.346 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: Unknown, Testable gene in GeneTests |
0.5 | APOB-I2313V | het unknown | 0.964 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: Unknown, Testable gene in GeneTests |
0.5 | APOB-H1923R | het unknown | 0.022 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests |
0.5 | APOB-Y1422C | homozygous | 0.994 | Unknown benign | Low clinical importance, uncertain | This position is almost certainly an error in the HG18 reference sequence. |
0.5 | APOB-A618V | homozygous | 0.494 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: Unknown, Testable gene in GeneTests |
0.5 | SCCPDH-G418R | het unknown | 0.023 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.943 (probably damaging) |
0.5 | EPHX1-Y113H | het unknown | 0.290 | Unknown pharmacogenetic | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: 0.997 (probably damaging) |
0.5 | KCNK1-R171H | het unknown | 0.008 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.993 (probably damaging) |
0.5 | MTR-R52Q | het unknown | 0.002 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.136 (benign), Testable gene in GeneTests with associated GeneReview |
0.5 | RYR2-S1400G | het unknown | 0.016 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.012 (benign), Testable gene in GeneTests with associated GeneReview |
0.5 | RYR2-Q2958R | het unknown | 0.133 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
0.5 | ALMS1-R392C | het unknown | 0.409 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
0.5 | ALMS1-S524SP | het unknown | 0.578 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
0.5 | ALMS1-V671G | homozygous | 0.857 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
0.5 | ALMS1-G1414A | het unknown | 0.328 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
0.5 | ALMS1-I1875V | het unknown | 0.405 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
0.5 | ALMS1-S2111R | het unknown | 0.327 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
0.5 | ALMS1-R2284P | het unknown | 0.328 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
0.5 | ALMS1-R2826S | het unknown | 0.404 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
0.5 | ALMS1-N2856S | het unknown | 0.372 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
0.5 | ALMS1-R4029K | het unknown | 0.527 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
0.5 | DNAH6-V141M | het unknown | 0.942 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
0.5 | DNAH6-R1331H | het unknown | Unknown | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: Unknown | |
0.5 | DNAH6-G1694A | het unknown | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: 0.026 (benign) | |
0.5 | DNAH6-V2898I | het unknown | 0.023 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.931 (probably damaging) |
0.5 | ITGA6-A380T | homozygous | 0.253 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
0.5 | COL3A1-H1353Q | homozygous | 0.990 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
0.5 | CASP10-L522I | homozygous | 0.309 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
0.5 | LRP2-I4210L | het unknown | 0.462 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: 0.993 (probably damaging) |
0.5 | LRP2-K4094E | het unknown | 0.744 | Unknown pharmacogenetic | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: Unknown |
0.5 | LRP2-A2872T | het unknown | 0.327 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
0.5 | LRP2-T2811A | het unknown | Unknown | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: Unknown | |
0.5 | LRP2-N2632D | het unknown | 0.024 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: 0.168 (benign) |
0.5 | LRP2-G669D | het unknown | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.995 (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 | SCN1A-A1056T | homozygous | 0.806 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
0.5 | MRPS5-S386P | het unknown | 0.008 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.983 (probably damaging) |
0.5 | VWA3B-E372* | het unknown | 0.008 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Nonsense mutation |
0.5 | VWA3B-L677V | het unknown | 0.700 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
0.5 | VWA3B-R1245K | homozygous | 0.985 | 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 | NEB-A6277P | het unknown | 0.691 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
0.5 | NEB-D5573N | het unknown | 0.008 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
0.5 | NEB-R4389T | het unknown | 0.724 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
0.5 | NEB-W3348C | het unknown | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview | |
0.5 | NEB-V1491M | homozygous | 0.453 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
0.5 | NEB-Y1301H | homozygous | 0.668 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
0.5 | NEB-K1027N | homozygous | 0.476 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
0.5 | USH2A-E3411A | homozygous | 0.638 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
0.5 | USH2A-G2211V | het unknown | Unknown | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview | |
0.5 | USH2A-I2106T | het unknown | 0.629 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
0.5 | USH2A-R1486K | homozygous | 0.646 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.063 (benign), Testable gene in GeneTests with associated GeneReview |
0.5 | USH2A-D644V | het unknown | 0.031 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.137 (benign), Testable gene in GeneTests with associated GeneReview |
0.5 | USH2A-A125T | homozygous | 0.777 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
0.5 | RNPEP-K260N | het unknown | 0.016 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.978 (probably damaging) |
0.5 | CPT2-V368I | homozygous | 0.477 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
0.5 | CPT2-M647V | het unknown | 0.093 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.462 (possibly damaging), Testable gene in GeneTests with associated GeneReview |
0.5 | LRP8-R952Q | het unknown | 0.130 | Unknown pharmacogenetic | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown |
0.5 | LRP8-D46E | het unknown | 0.621 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
0.5 | FAM151A-A416V | homozygous | 0.261 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: 0.001 (benign) |
0.5 | FAM151A-P335Shift | het unknown | 0.031 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Frameshift |
0.5 | AKR1A1-N52S | het unknown | 0.023 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.987 (probably damaging) |
0.5 | COL9A2-Q326R | homozygous | 0.403 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
0.5 | HSPG2-I3264V | het unknown | Unknown | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests | |
0.5 | HSPG2-I2038M | het unknown | Unknown | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests | |
0.5 | HSPG2-A1503V | homozygous | 0.777 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: Unknown, Testable gene in GeneTests |
0.5 | HSPG2-N765S | homozygous | 0.896 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: Unknown, Testable gene in GeneTests |
0.5 | HSPG2-M638V | homozygous | 0.978 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: Unknown, Testable gene in GeneTests |
0.5 | FAM46B-H416R | het unknown | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.968 (probably damaging) | |
0.5 | EPB41-V214I | het unknown | 0.016 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.899 (probably damaging) |
0.5 | TMEM54-L110F | het unknown | 0.023 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.926 (probably damaging) |
0.5 | LEPR-K109R | homozygous | 0.332 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: 0.026 (benign), Testable gene in GeneTests |
0.5 | LEPR-Q223R | homozygous | 0.569 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: 0.484 (possibly damaging), Testable gene in GeneTests |
0.5 | DPYD-V732I | het unknown | 0.047 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: 0.905 (probably damaging), Testable gene in GeneTests |
0.5 | DPYD-I543V | het unknown | 0.199 | Unknown pharmacogenetic | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests |
0.5 | DPYD-R29C | het unknown | 0.731 | Complex/Other pharmacogenetic | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: Unknown, Testable gene in GeneTests |
0.5 | NDUFS2-P20T | het unknown | 0.095 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: 0.001 (benign), Testable gene in GeneTests |
0.5 | NDUFS2-P352A | het unknown | 0.031 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: 0.999 (probably damaging), Testable gene in GeneTests |
0.5 | F5-M1764V | het unknown | 0.273 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
0.5 | F5-K925E | het unknown | 0.196 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
0.5 | F5-H865R | het unknown | 0.238 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
0.5 | F5-K858R | het unknown | 0.239 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
0.5 | F5-Q534R | het unknown | 0.991 | Unknown pharmacogenetic | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
0.5 | KIAA1614-L64P | homozygous | 0.981 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
0.5 | KIAA1614-R301C | het unknown | 0.008 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.999 (probably damaging) |
0.5 | KIAA1614-S326F | het unknown | 0.031 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: 0.689 (possibly damaging) |
0.5 | KIAA1614-N1078D | homozygous | 0.985 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
0.5 | ASPM-Y2494H | homozygous | 0.992 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
0.5 | PVRL4-P104T | het unknown | 0.048 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.999 (probably damaging) |
0.5 | LMNA-L15P | homozygous | 0.227 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
0.5 | LMNA-M174T | homozygous | 0.289 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
0.5 | 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 | COL11A1-S1547P | homozygous | 0.752 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
0.5 | COL11A1-P1335L | het unknown | 0.479 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
0.5 | COL11A1-P986Q | het unknown | 0.016 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
0.5 | SEC22B-D70Y | het unknown | 0.003 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: Unknown |
0.5 | SEC22B-T81K | het unknown | 0.500 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
0.5 | SEC22B-R107Q | het unknown | 0.002 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: Unknown |
0.5 | SEC22B-C129R | het unknown | 0.085 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
0.5 | SEC22B-R131* | het unknown | 0.019 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Nonsense mutation |
0.5 | SEC22B-H189R | het unknown | 0.508 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
0.5 | FLG-R3738H | het unknown | 0.134 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.278 (possibly damaging), Testable gene in GeneTests with associated GeneReview |
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-Q2574E | het unknown | Unknown | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview | |
0.5 | FLG-G2545R | het unknown | 0.292 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.006 (benign), 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-K2444E | het unknown | 0.188 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.002 (benign), Testable gene in GeneTests with associated GeneReview |
0.5 | FLG-E2398Q | het unknown | 0.144 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: 0.92 (probably damaging), 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-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-Y2194H | het unknown | 0.522 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 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-A2108V | het unknown | 0.121 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
0.5 | FLG-H1961Q | het unknown | 0.418 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 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-A1805V | het unknown | 0.048 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 3 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-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 | CASP8-K14R | homozygous | 0.640 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: Unknown, Testable gene in GeneTests |
0.5 | CASP8-D344H | het unknown | 0.041 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests |
0.5 | ALS2-V368M | homozygous | 0.869 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
0.5 | ZCCHC4-D72H | het unknown | 0.008 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.953 (probably damaging) |
0.5 | ZCCHC4-L396H | homozygous | 0.868 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
0.5 | UGT2B15-K523T | homozygous | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: Unknown | |
0.5 | UGT2B15-Y85D | homozygous | 0.500 | Unknown pharmacogenetic | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: Unknown |
0.5 | UGT2A3-A497T | homozygous | 0.627 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: 0.418 (possibly damaging) |
0.5 | UGT2A3-F494V | het unknown | 0.023 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.999 (probably damaging) |
0.5 | CC2D2A-E229Del | het unknown | 0.039 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
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-E2643Del | het unknown | 0.023 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
0.5 | 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 | CLDN16-R55Shift | homozygous | 0.172 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Frameshift, Testable gene in GeneTests |
0.5 | KIAA0226-T709M | het unknown | 0.023 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.947 (probably damaging) |
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 | RG9MTD2-R69H | het unknown | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.995 (probably damaging) | |
0.5 | MTTP-I128T | het unknown | 0.250 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: Unknown, Testable gene in GeneTests |
0.5 | MTTP-H297Q | homozygous | 0.636 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: Unknown, Testable gene in GeneTests |
0.5 | MTTP-G661S | het unknown | 0.023 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests |
0.5 | AP3B1-V585E | homozygous | 0.806 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.002 (benign), Testable gene in GeneTests with associated GeneReview |
0.5 | VCAN-S300L | het unknown | 0.080 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.111 (benign), Testable gene in GeneTests with associated GeneReview |
0.5 | VCAN-I508N | het unknown | Unknown | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview | |
0.5 | VCAN-K1516R | homozygous | 0.480 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
0.5 | VCAN-R1826H | homozygous | 0.349 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.002 (benign), Testable gene in GeneTests with associated GeneReview |
0.5 | VCAN-F2301Y | homozygous | 0.462 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
0.5 | VCAN-D2937Y | homozygous | 0.352 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.11 (benign), Testable gene in GeneTests with associated GeneReview |
0.5 | GPR98-L1093F | het unknown | 0.835 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
0.5 | GPR98-V1951I | het unknown | 0.820 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
0.5 | GPR98-N1985D | het unknown | 0.259 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.005 (benign), Testable gene in GeneTests with associated GeneReview |
0.5 | GPR98-L2004F | het unknown | 0.341 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.841 (possibly damaging), Testable gene in GeneTests with associated GeneReview |
0.5 | GPR98-N2584S | het unknown | 0.825 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
0.5 | GPR98-G3248D | het unknown | 0.232 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: 0.961 (probably damaging), Testable gene in GeneTests with associated GeneReview |
0.5 | GPR98-E3471K | het unknown | 0.834 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
0.5 | GPR98-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 | APC-V1822D | homozygous | 0.887 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
0.5 | 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-T244I | het unknown | 0.150 | Unknown protective | Low clinical importance, likely | The reference genome variant for this allele has been associated with a slight increased risk of multiple sclerosis. Thus, this variant can be treated as a "protective" variant -- carriers of this variant are slightly less likely to have MS. Because the disease is rare and the effect of this variant is not very strong, the absolute decreased risk for carriers of this variant is less than .05% (less than 1 in 2000). |
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-T4220A | het unknown | 0.178 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: 0.959 (probably damaging), 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-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 | 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 | CLGN-P270S | het unknown | 0.008 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.989 (probably damaging) |
0.5 | DCHS2-S2117A | het unknown | 0.016 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.963 (probably damaging) |
0.5 | DCHS2-V2007Shift | het unknown | 0.016 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Frameshift |
0.5 | DCHS2-S1205L | het unknown | 0.238 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: 0.993 (probably damaging) |
0.5 | DCHS2-N897S | homozygous | 0.832 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: 0.003 (benign) |
0.5 | DCHS2-P870L | het unknown | 0.008 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: 0.003 (benign) |
0.5 | DCHS2-S344L | homozygous | 0.972 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
0.5 | DCHS2-H174R | het unknown | 0.446 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: 0.317 (possibly damaging) |
0.5 | DCHS2-V153A | het unknown | 0.317 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: 0.227 (possibly damaging) |
0.5 | TLR3-L412F | het unknown | 0.200 | Unknown pharmacogenetic | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.991 (probably damaging) |
0.5 | CCDC39-T182S | het unknown | 0.016 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.98 (probably damaging) |
0.5 | CASR-R990G | het unknown | 0.199 | Unknown pharmacogenetic | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: 0.939 (probably damaging), Testable gene in GeneTests |
0.5 | CASR-E1011Q | homozygous | 0.916 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: Unknown, Testable gene in GeneTests |
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-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 | het unknown | 0.528 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
0.5 | COL4A4-P482S | homozygous | 0.493 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
0.5 | COL4A3-G43R | het unknown | 0.239 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
0.5 | COL4A3-L141P | homozygous | 0.760 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
0.5 | COL4A3-E162G | homozygous | 0.764 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
0.5 | COL4A3-D326Y | het unknown | 0.203 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
0.5 | TRPM8-R247T | het unknown | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.926 (probably damaging) | |
0.5 | TRPM8-Y251C | het unknown | 0.043 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.999 (probably damaging) |
0.5 | TRPM8-S419N | het unknown | 0.379 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
0.5 | OBSL1-R1767Q | homozygous | 0.491 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
0.5 | OBSL1-Q1578R | homozygous | 0.968 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
0.5 | OBSL1-E1365D | 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 | STK36-K295R | het unknown | 0.217 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: 0.019 (benign) |
0.5 | STK36-R477W | het unknown | 0.043 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.999 (probably damaging) |
0.5 | STK36-R583Q | homozygous | 0.474 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: 0.892 (probably damaging) |
0.5 | STK36-G1003D | het unknown | 0.167 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: 0.061 (benign) |
0.5 | STK36-R1112Q | het unknown | 0.085 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: 0.124 (benign) |
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 | ABCA12-V542A | het unknown | 0.008 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: 0.849 (possibly damaging), Testable gene in GeneTests with associated GeneReview |
0.5 | CXCR1-R335C | het unknown | 0.008 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.998 (probably damaging) |
0.5 | CXCR1-M31R | het unknown | 0.049 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: Unknown |
0.5 | SLC11A1-D543N | het unknown | 0.076 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.011 (benign) |
0.5 | COL6A3-A3012P | homozygous | 0.843 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
0.5 | PER2-V903I | het unknown | 0.039 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.884 (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-T113Shift | het unknown | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Frameshift | |
0.5 | HGD-Q80H | homozygous | 0.742 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
0.5 | STXBP5L-M1064I | het unknown | 0.008 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.993 (probably damaging) |
0.5 | KBTBD8-F179L | het unknown | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.998 (probably damaging) | |
0.5 | KBTBD8-C420R | het unknown | 0.066 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: 1.0 (probably damaging) |
0.5 | COL7A1-R2791W | het unknown | Unknown | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview | |
0.5 | COL7A1-R1379C | het unknown | Unknown | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview | |
0.5 | COL7A1-P1277L | het unknown | 0.047 | Unknown benign | Low clinical importance, uncertain | Polymorphism, presumed benign. |
0.5 | XPC-Q939K | het unknown | 0.683 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
0.5 | XPC-A499V | het unknown | 0.188 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
0.5 | XPC-R492H | het unknown | 0.026 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
0.5 | BTD-I68V | het unknown | 0.016 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.002 (benign), Testable gene in GeneTests with associated GeneReview |
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 | DOCK8-P97T | homozygous | 0.512 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.961 (probably damaging), Testable gene in GeneTests |
0.5 | 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 | NQO1-P187S | het unknown | 0.283 | Unknown pharmacogenetic | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.215 (possibly damaging) |
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-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-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-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-A2308V | het unknown | Unknown | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: Unknown | |
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-Q2241R | het unknown | 0.500 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: 0.001 (benign) |
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-R1951Q | het unknown | 0.012 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: 0.269 (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 | HYDIN-M15T | het unknown | 0.023 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.994 (probably damaging) |
0.5 | GCSH-S21L | homozygous | 0.750 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
0.5 | FHOD1-P533L | het unknown | 0.039 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.988 (probably damaging) |
0.5 | CCDC135-D51N | het unknown | 0.047 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.927 (probably damaging) |
0.5 | ABCC6-M848V | homozygous | 0.954 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
0.5 | PALB2-L337S | het unknown | 0.016 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: 0.761 (possibly damaging), 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 | BBS2-I123V | homozygous | 0.251 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
0.5 | BBS2-S70N | homozygous | 0.992 | Unknown benign | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
0.5 | CYBA-Y72H | het unknown | 0.649 | Unknown pharmacogenetic | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests |
0.5 | ZNF276-K422Q | het unknown | 0.008 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.968 (probably damaging) |
0.5 | BRCA1-S1634G | het unknown | 0.292 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
0.5 | BRCA1-K1183R | het unknown | 0.302 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
0.5 | BRCA1-E1038G | het unknown | 0.265 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.462 (possibly damaging), Testable gene in GeneTests with associated GeneReview |
0.5 | BRCA1-P871L | het unknown | 0.555 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
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 | ETV4-R437C | het unknown | 0.010 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 1.0 (probably damaging) |
0.5 | COL1A1-T1075A | homozygous | 0.961 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
0.5 | JUP-M697L | homozygous | 0.520 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
0.5 | RAI1-G90A | homozygous | 0.281 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
0.5 | RAI1-P165T | homozygous | 0.542 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: 0.999 (probably damaging), Testable gene in GeneTests with associated GeneReview |
0.5 | CTNS-T260I | homozygous | 0.825 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
0.5 | RABEP1-M628I | het unknown | 0.032 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.991 (probably damaging) |
0.5 | PER1-A962P | het unknown | 0.709 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: 0.212 (possibly damaging) |
0.5 | PER1-P859S | het unknown | 0.016 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.891 (probably damaging) |
0.5 | MFSD6L-R486H | homozygous | 0.191 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: 0.913 (probably damaging) |
0.5 | MFSD6L-I339T | homozygous | 0.131 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: 0.003 (benign) |
0.5 | MFSD6L-L85I | het unknown | 0.041 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.914 (probably damaging) |
0.5 | LITAF-I92V | homozygous | 0.102 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
0.5 | NDOR1-R30G | het unknown | 0.045 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.894 (probably damaging) |
0.5 | RDH12-R161Q | het unknown | 0.076 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: 0.941 (probably damaging), Testable gene in GeneTests with associated GeneReview |
0.5 | MLH3-P844L | het unknown | 0.298 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.002 (benign), Testable gene in GeneTests with associated GeneReview |
0.5 | MLH3-N826D | homozygous | 0.981 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
0.5 | GALC-T641A | homozygous | 0.892 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
0.5 | GALC-I562T | homozygous | 0.446 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.167 (benign), Testable gene in GeneTests with associated GeneReview |
0.5 | GALC-R184C | het unknown | 0.023 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: 0.746 (possibly damaging), Testable gene in GeneTests with associated GeneReview |
0.5 | FAM71D-T197Shift | het unknown | 0.008 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Frameshift |
0.5 | SYNE2-M1969T | homozygous | 0.637 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.991 (probably damaging), Testable gene in GeneTests |
0.5 | SYNE2-A2284V | homozygous | 0.637 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: 0.289 (possibly damaging), Testable gene in GeneTests |
0.5 | SYNE2-S2359N | homozygous | 0.676 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: 0.697 (possibly damaging), Testable gene in GeneTests |
0.5 | SYNE2-A2395T | homozygous | 0.835 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: Unknown, Testable gene in GeneTests |
0.5 | SYNE2-S2802G | homozygous | 0.864 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: 0.012 (benign), Testable gene in GeneTests |
0.5 | SYNE2-I2942V | homozygous | 0.622 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: Unknown, Testable gene in GeneTests |
0.5 | SYNE2-D3253H | homozygous | 0.684 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.933 (probably damaging), Testable gene in GeneTests |
0.5 | SYNE2-L5186M | het unknown | 0.708 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: Unknown, Testable gene in GeneTests |
0.5 | TEP1-I2486M | het unknown | 0.373 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
0.5 | TEP1-S1195P | homozygous | 0.703 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
0.5 | TEP1-R1055C | homozygous | 0.631 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
0.5 | TEP1-N307K | het unknown | 0.369 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
0.5 | TEP1-H239R | het unknown | 0.008 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
0.5 | TEP1-T137M | het unknown | 0.055 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
0.5 | TEP1-S116P | homozygous | 0.363 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
0.5 | MYH6-A1130T | het unknown | 0.048 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
0.5 | MYH6-V1101A | homozygous | 0.422 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
0.5 | FANCM-V878L | het unknown | 0.268 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
0.5 | FANCM-I1460V | het unknown | 0.078 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.013 (benign), Testable gene in GeneTests with associated GeneReview |
0.5 | FANCM-P1812A | het unknown | 0.062 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: 0.958 (probably damaging), Testable gene in GeneTests with associated GeneReview |
0.5 | PTGDR-R332Q | het unknown | 0.016 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.905 (probably damaging) |
0.5 | ZFYVE19-R48Shift | het unknown | 0.008 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Frameshift |
0.5 | ZFYVE19-S376A | homozygous | 0.814 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: 0.001 (benign) |
0.5 | MGA-P628Q | het unknown | 0.031 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.999 (probably damaging) |
0.5 | MGA-T716S | homozygous | 0.780 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
0.5 | MGA-P1523A | het unknown | 0.260 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: 0.998 (probably damaging) |
0.5 | CHRNB4-R349C | het unknown | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.998 (probably damaging) | |
0.5 | ADAMTSL3-H146R | het unknown | 0.706 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: 0.04 (benign) |
0.5 | ADAMTSL3-L290V | homozygous | 0.833 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
0.5 | ADAMTSL3-V661L | het unknown | 0.711 | Unknown pharmacogenetic | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown |
0.5 | ADAMTSL3-T1660I | het unknown | 0.106 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: 0.001 (benign) |
0.5 | PKD1-I4045V | het unknown | 0.250 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
0.5 | PKD1-R1340W | het unknown | Unknown | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview | |
0.5 | PKD1-M1092T | het unknown | 0.081 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.002 (benign), Testable gene in GeneTests with associated GeneReview |
0.5 | CYP1A1-I462V | het unknown | 0.128 | Unknown pharmacogenetic | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: 0.488 (possibly damaging) |
0.5 | CYP1A1-T461N | het unknown | 0.008 | Unknown pharmacogenetic | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: 0.001 (benign) |
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 | STRC-Q84R | homozygous | 1.000 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
0.5 | SLC28A2-P22L | homozygous | 0.248 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
0.5 | SLC28A2-S75R | homozygous | 0.253 | Unknown pharmacogenetic | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: Unknown |
0.5 | 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 | NR2E3-T318Shift | homozygous | 1.000 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Frameshift, Testable gene in GeneTests |
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 | SCN4A-N1376D | het unknown | 0.604 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
0.5 | SCN4A-S524G | homozygous | 0.938 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
0.5 | PLAC4-R42Shift | het unknown | 0.008 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Frameshift |
0.5 | COL6A2-A68V | het unknown | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview | |
0.5 | 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 | KCNE1-S38G | homozygous | 0.710 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.003 (benign), Testable gene in GeneTests with associated GeneReview |
0.5 | LAMA5-R3079W | homozygous | 0.655 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
0.5 | LAMA5-D2062N | homozygous | 0.559 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: 0.551 (possibly damaging) |
0.5 | LAMA5-R2053H | het unknown | 0.094 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: 0.034 (benign) |
0.5 | LAMA5-V1900M | homozygous | 0.674 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
0.5 | LAMA5-F1807S | homozygous | 0.895 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
0.5 | LAMA5-K1367E | homozygous | 0.912 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
0.5 | LAMA5-M1258T | homozygous | 0.807 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
0.5 | LAMA5-T956A | homozygous | 1.000 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
0.5 | LAMA5-K812T | het unknown | 0.008 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.991 (probably damaging) |
0.5 | LAMA5-T401A | homozygous | 0.868 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: 0.184 (benign) |
0.5 | ZNF446-P300S | het unknown | 0.016 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: 0.552 (possibly damaging) |
0.5 | ZNF446-P328L | het unknown | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.961 (probably damaging) | |
0.5 | C20orf54-I303V | het unknown | Unknown | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests | |
0.5 | C20orf54-T278M | het unknown | Unknown | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests | |
0.5 | C20orf54-P267L | het unknown | Unknown | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests | |
0.5 | PANK2-G126A | homozygous | 0.917 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
0.5 | 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 | NR_027052-R29H | het unknown | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: Unknown | |
0.5 | NR_027052-T53Shift | het unknown | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Frameshift | |
0.5 | NR_027052-Y63N | het unknown | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: Unknown | |
0.5 | HPS4-Q620H | homozygous | 0.806 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: 0.859 (probably damaging), Testable gene in GeneTests with associated GeneReview |
0.5 | HPS4-H601Y | homozygous | 0.807 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
0.5 | HPS4-V547M | homozygous | 0.780 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
0.5 | HPS4-E224G | homozygous | 0.779 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
0.5 | 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 | ATRX-Q929E | homozygous | 0.565 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
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 | ASMTL-*622Shift | het unknown | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Frameshift | |
0.5 | PLCXD1-G305V | het unknown | 0.022 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.941 (probably damaging) |
0.5 | TCN2-R399Q | het unknown | 0.077 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.969 (probably damaging), Testable gene in GeneTests |
0.5 | TRIOBP-S217N | homozygous | 0.413 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.914 (probably damaging), Testable gene in GeneTests |
0.5 | TRIOBP-N863K | homozygous | 0.342 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.98 (probably damaging), Testable gene in GeneTests |
0.5 | TRIOBP-F1187L | homozygous | 0.320 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.995 (probably damaging), Testable gene in GeneTests |
0.5 | TRIOBP-H1300R | homozygous | 0.431 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: 0.006 (benign), Testable gene in GeneTests |
0.5 | TRIOBP-W1377R | homozygous | 0.964 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: 0.084 (benign), Testable gene in GeneTests |
0.5 | PPARA-L162V | het unknown | 0.012 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.013 (benign) |
0.5 | ARSA-R496H | het unknown | 0.048 | Unknown benign | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
0.5 | ARSA-T391S | homozygous | 0.423 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
0.5 | ARSA-N350S | het unknown | 0.241 | Unknown benign | Low clinical importance, well-established | This common variant (HapMap 24.1% allele frequency) causes a loss of a glycosylation site (affecting the size of the protein when studied with gel electrophoresis) but does not affect enzyme activity or stability. |
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 | ZNF880-N106Shift | het unknown | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Frameshift | |
0.5 | ZNF880-N140NN | het unknown | Unknown | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: Unknown | |
0.5 | ZNF880-R198S | het unknown | 0.354 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
0.5 | ZNF880-N202H | het unknown | 0.292 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
0.5 | ZNF880-C413F | het unknown | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: Unknown | |
0.5 | ZNF880-K471R | het unknown | 0.328 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
0.5 | 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 | CD226-S307G | het unknown | 0.423 | Unknown pharmacogenetic | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown |
0.5 | ZNF77-Q100* | het unknown | 0.008 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Nonsense mutation |
0.5 | SLC14A2-I132V | homozygous | 0.887 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
0.5 | SLC14A2-R510Q | het unknown | 0.329 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
0.5 | SLC14A2-A880T | homozygous | 0.443 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: 0.001 (benign) |
0.5 | SLC14A2-R896H | het unknown | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.996 (probably damaging) | |
0.5 | LAMA3-P17G | het unknown | Unknown | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview | |
0.5 | LAMA3-S2834G | homozygous | 0.993 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
0.5 | COG1-N392S | homozygous | 0.536 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
0.5 | TSEN54-I137L | het unknown | 0.119 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.846 (possibly damaging), Testable gene in GeneTests with associated GeneReview |
0.5 | TSEN54-K347N | het unknown | 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 | het unknown | 0.515 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.001 (benign), Testable gene in GeneTests with associated GeneReview |
0.5 | TSEN54-P483A | het unknown | 0.062 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: 0.999 (probably damaging), Testable gene in GeneTests with associated GeneReview |
0.5 | RNF157-G208R | het unknown | 0.027 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.859 (probably damaging) |
0.5 | ZNF750-P288L | het unknown | 0.023 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.984 (probably damaging) |
0.5 | ZNF750-M235V | het unknown | 0.107 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: 0.01 (benign) |
0.5 | MPND-P423L | het unknown | 0.016 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.999 (probably damaging) |
0.5 | MCOLN1-T261M | het unknown | 0.016 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.06 (benign), Testable gene in GeneTests with associated GeneReview |
0.5 | PRX-G1132R | homozygous | 0.978 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
0.5 | PRX-V882A | het unknown | 0.493 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.014 (benign), Testable gene in GeneTests with associated GeneReview |
0.5 | SIX5-V693M | het unknown | 0.261 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.086 (benign), Testable gene in GeneTests with associated GeneReview |
0.5 | SIX5-L556V | homozygous | 0.833 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
0.5 | FPR1-E346A | homozygous | 0.800 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
0.5 | FPR1-V101L | homozygous | 0.336 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
0.5 | FPR1-I11T | homozygous | 0.831 | Unknown pharmacogenetic | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: Unknown |
0.5 | LSR-R519RR | homozygous | Unknown | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: Unknown | |
0.5 | LSR-E645Q | het unknown | 0.023 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.877 (probably damaging) |
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-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 | STXBP2-I526V | homozygous | 0.725 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
0.5 | ADAMTS10-H1101Q | homozygous | 1.000 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
0.5 | ADAMTS10-T134S | homozygous | 0.910 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.001 (benign), Testable gene in GeneTests with associated GeneReview |
0.5 | CCDC130-S22C | het unknown | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.994 (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 | ALG1-S267N | het unknown | 0.053 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.001 (benign), Testable gene in GeneTests with associated GeneReview |
0.5 | KRT83-H493Y | het unknown | 0.791 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: Unknown, Testable gene in GeneTests |
0.5 | KRT83-I279M | het unknown | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests | |
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 | GSTP1-I105V | homozygous | 0.338 | Recessive pharmacogenetic | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: Unknown |
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 | 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 | USH1C-E819D | homozygous | 0.408 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
0.5 | HPS5-T1098I | het unknown | 0.016 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: 0.24 (possibly damaging), Testable gene in GeneTests with associated GeneReview |
0.5 | SLC6A5-F124S | het unknown | 0.803 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
0.5 | SLC6A5-A162G | homozygous | 0.997 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
0.5 | SLC6A5-K457N | het unknown | 0.065 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.051 (benign), Testable gene in GeneTests with associated GeneReview |
0.5 | SLC6A5-D463N | homozygous | 0.177 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.122 (benign), Testable gene in GeneTests with associated GeneReview |
0.5 | TRPC6-A404V | het unknown | 0.099 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.937 (probably damaging), Testable gene in GeneTests |
0.5 | DYNC2H1-Q304L | het unknown | 0.005 | Unknown benign | Low clinical importance, uncertain | Presumed benign. |
0.5 | DYNC2H1-H341Y | het unknown | 0.079 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: 0.3 (possibly damaging), Testable gene in GeneTests |
0.5 | DYNC2H1-T1288A | het unknown | 0.081 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: 0.149 (benign), Testable gene in GeneTests |
0.5 | DYNC2H1-N1576K | het unknown | 0.039 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests |
0.5 | DYNC2H1-R2871Q | het unknown | 0.705 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: Unknown, Testable gene in GeneTests |
0.5 | DYNC2H1-A3687V | het unknown | 0.292 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: Unknown, Testable gene in GeneTests |
0.5 | LRRK2-R50H | homozygous | 0.927 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
0.5 | LRRK2-S1647T | het unknown | 0.294 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
0.5 | LRRK2-M2397T | homozygous | 0.526 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
0.5 | KRT81-R316C | het unknown | 0.016 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: 1.0 (probably damaging), Testable gene in GeneTests |
0.5 | KRT81-L248R | homozygous | 0.935 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: Unknown, Testable gene in GeneTests |
0.5 | KRT81-G52R | het unknown | 0.191 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: 0.735 (possibly damaging), Testable gene in GeneTests |
0.5 | SLCO1B3-S112A | homozygous | 0.646 | Unknown pharmacogenetic | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: Unknown |
0.5 | SLCO1B3-M233I | homozygous | 0.659 | Unknown pharmacogenetic | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: 0.131 (benign) |
0.5 | A2ML1-D850E | homozygous | 0.974 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
0.5 | A2ML1-R1122W | het unknown | 0.408 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
0.5 | A2ML1-A1226Shift | het unknown | 0.009 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Frameshift |
0.5 | A2ML1-H1229R | homozygous | 0.949 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
0.5 | A2ML1-M1257V | homozygous | 0.803 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
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 | WNK1-T1056P | het unknown | 0.838 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
0.5 | WNK1-C1506S | homozygous | 1.000 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
0.5 | VWF-T1381A | homozygous | 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-H484R | het unknown | 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 | 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 | SMPD1-V36A | het unknown | 1.000 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
0.5 | SMPD1-AL48Del | het unknown | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview | |
0.5 | CHAT-A120T | het unknown | 0.149 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.013 (benign), Testable gene in GeneTests with associated GeneReview |
0.5 | CHAT-V461M | homozygous | 0.927 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
0.5 | UNC5B-I242V | het unknown | 0.031 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.97 (probably damaging) |
0.5 | PPYR1-A99S | het unknown | 0.244 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: 0.03 (benign) |
0.5 | PPYR1-R240C | het unknown | 0.220 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: 0.332 (possibly damaging) |
0.5 | PPYR1-V276M | het unknown | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.889 (probably damaging) | |
0.5 | CCDC7-L77Shift | het unknown | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Frameshift | |
0.5 | EXD3-R653C | het unknown | 0.032 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.953 (probably damaging) |
0.5 | EXD3-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 | het unknown | 0.677 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
0.5 | DCLRE1C-L329M | het unknown | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.842 (possibly damaging), Testable gene in GeneTests | |
0.5 | DCLRE1C-H243R | het unknown | 0.099 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: 0.767 (possibly damaging), Testable gene in GeneTests |
0.5 | MYO3A-R319H | homozygous | 0.376 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: Unknown, Testable gene in GeneTests |
0.5 | MYO3A-I348V | homozygous | 0.678 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: Unknown, Testable gene in GeneTests |
0.5 | MYO3A-V369I | homozygous | 0.642 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: Unknown, Testable gene in GeneTests |
0.5 | MYO3A-A833S | het unknown | 0.049 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: 0.997 (probably damaging), Testable gene in GeneTests |
0.5 | MYO3A-S956N | homozygous | 0.443 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: Unknown, Testable gene in GeneTests |
0.5 | MYO3A-T1284S | homozygous | 0.406 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: 0.002 (benign), Testable gene in GeneTests |
0.5 | MYO3A-R1313S | homozygous | 0.620 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: Unknown, Testable gene in GeneTests |
0.5 | CDH23-N1349D | homozygous | 0.772 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
0.5 | CDH23-A1572T | homozygous | 0.720 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
0.5 | CDH23-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 | CDH23-E2041K | het unknown | 0.344 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
0.5 | CDH23-V2280I | het unknown | 0.039 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
0.5 | CDH23-R2355Q | het unknown | 0.349 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
0.5 | CDH23-P2377L | het unknown | 0.338 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
0.5 | ANXA11-R230C | het unknown | 0.382 | Unknown pharmacogenetic | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 1.0 (probably damaging) |
0.5 | KNDC1-R46W | het unknown | 0.009 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.928 (probably damaging) |
0.5 | KNDC1-A128S | het unknown | 0.023 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: 0.076 (benign) |
0.5 | KNDC1-S155G | het unknown | 0.026 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: Unknown |
0.5 | KNDC1-R156Q | het unknown | 0.024 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: Unknown |
0.5 | KNDC1-E436G | het unknown | 0.378 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
0.5 | KNDC1-C603Y | het unknown | 0.023 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.986 (probably damaging) |
0.5 | KNDC1-L717P | homozygous | 0.549 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
0.5 | KNDC1-V806D | het unknown | 0.360 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: 0.007 (benign) |
0.5 | 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 | TH-V108M | homozygous | 0.416 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
0.5 | BAG3-C151R | het unknown | 0.065 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
0.5 | 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 | AVPI1-A41G | het unknown | 0.486 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
0.5 | AVPI1-L36R | het unknown | 0.024 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.924 (probably damaging) |
0.5 | PPRC1-H1356Q | het unknown | Unknown | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: Unknown | |
0.5 | PPRC1-R1357S | het unknown | 0.008 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.972 (probably damaging) |
0.5 | AX746750-S137Shift | het unknown | 0.010 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Frameshift |
0.5 | MYO7A-L16S | het unknown | 0.550 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
0.5 | MYO7A-S1666C | het unknown | 0.610 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
0.5 | MYO7A-L1954I | homozygous | 0.552 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
0.5 | ITGA7-R279H | het unknown | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests | |
0.5 | MPHOSPH8-D460Y | het unknown | 0.008 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.983 (probably damaging) |
0.5 | COL4A1-T555P | homozygous | 0.994 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
0.5 | KRT6C-V481I | het unknown | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview | |
0.5 | KRT6B-G499S | het unknown | 0.039 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
0.5 | 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 |
0.5 | ATP7B-V1140A | homozygous | 0.495 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
0.5 | ATP7B-R952K | homozygous | 0.481 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
0.5 | ATP7B-K832R | homozygous | 0.455 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.461 (possibly damaging), Testable gene in GeneTests with associated GeneReview |
0.5 | ATP7B-V456L | het unknown | 0.360 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.006 (benign), Testable gene in GeneTests with associated GeneReview |
0.5 | ATP7B-S406A | het unknown | 0.355 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.001 (benign), Testable gene in GeneTests with associated GeneReview |
0.5 | HNF1A-I27L | het unknown | 0.311 | Unknown pharmacogenetic | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests |
0.5 | HNF1A-S487N | het unknown | 0.301 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: Unknown, Testable gene in GeneTests |
0.5 | HNF1A-S574G | homozygous | 0.976 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: Unknown, Testable gene in GeneTests |
0.5 | SH2B3-W262R | het unknown | 0.768 | Unknown pharmacogenetic | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown |
0.5 | HTR2A-H452Y | het unknown | 0.098 | Unknown pharmacogenetic | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: 0.489 (possibly damaging) |
0.375 | OTOF-F303L | het unknown | Unknown | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview | |
0.375 | OTOF-R82C | het unknown | 0.229 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.006 (benign), Testable gene in GeneTests with associated GeneReview |
0.375 | SHANK3-I245T | het unknown | 0.357 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
0.375 | SHANK3-V1587G | het unknown | Unknown | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview | |
0.375 | CLCN1-G118W | het unknown | 0.995 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
0.375 | CLCN1-YD686CY | het unknown | Unknown | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview | |
0.375 | CLCN1-P727L | het unknown | 0.325 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
0.375 | HADH-L86P | het unknown | 0.859 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
0.375 | HADH-Q152H | het unknown | Unknown | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview | |
0.25 | CHRNA2-T125A | het unknown | 0.644 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
0.25 | ZNF224-M118V | het unknown | 0.793 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
0.25 | ZNF224-H162L | het unknown | 0.780 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: 0.262 (possibly damaging) |
0.25 | ZNF224-K640E | het unknown | 0.593 | Unknown pharmacogenetic | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: Unknown |
0.25 | SFTPC-T138N | het unknown | 0.172 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
0.25 | SFTPC-S186N | het unknown | 0.222 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
0.25 | CFHR1-H157Y | het unknown | 0.169 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
0.25 | NPHS1-N1077S | het unknown | 0.132 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.993 (probably damaging), Testable gene in GeneTests |
0.25 | NPHS1-E117K | het unknown | 0.297 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.997 (probably damaging), Testable gene in GeneTests |
0.25 | TLR5-F822L | homozygous | 1.000 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
0.25 | TLR5-F616L | het unknown | 0.263 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: 0.011 (benign) |
0.25 | TLR5-N592S | het unknown | 0.211 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown |
0.25 | DMPK-L423V | het unknown | 0.121 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, 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 | EDARADD-M9I | het unknown | 0.726 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
0.25 | ELL-S297N | het unknown | 0.082 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
0.25 | ELL-Q296Shift | het unknown | Unknown | Insufficiently evaluated | Prioritization score: 2 Frameshift | |
0.25 | ELL-A74V | het unknown | Unknown | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: Unknown | |
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 | het unknown | 0.674 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: 0.001 (benign), Testable gene in GeneTests |
0.25 | MOGS-P293S | het unknown | 0.619 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
0.25 | MOGS-D239N | het unknown | 0.561 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.031 (benign), Testable gene in GeneTests with associated GeneReview |
0.25 | C8orf49-G26R | homozygous | Unknown | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: Unknown | |
0.25 | C8orf49-I81V | het unknown | Unknown | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: Unknown | |
0.25 | C8orf49-C194* | het unknown | Unknown | Insufficiently evaluated | Prioritization score: 2 Nonsense mutation | |
0.25 | SERPINA1-E400D | het unknown | 0.220 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.001 (benign), Testable gene in GeneTests with associated GeneReview |
0.25 | SERPINA1-R125H | het unknown | 0.140 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.001 (benign), Testable gene in GeneTests with associated GeneReview |
0.25 | DL492456-R148H | het unknown | Unknown | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: Unknown | |
0.25 | DL492456-Y109C | homozygous | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: Unknown | |
0.25 | DL492456-W104* | het unknown | Unknown | Insufficiently evaluated | Prioritization score: 2 Nonsense mutation | |
0.25 | PLA2G7-V379A | homozygous | 0.721 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: 0.816 (possibly damaging) |
0.25 | PLA2G7-I198T | het unknown | 0.162 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.001 (benign) |
0.25 | PLA2G7-R92H | het unknown | 0.252 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
0.25 | AK304151-S34L | het unknown | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: Unknown | |
0.25 | AK304151-F47L | het unknown | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: Unknown | |
0.25 | ZNF317-Q19H | het unknown | 0.108 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Nonsense mutation |
0.25 | ZNF317-Q19H | het unknown | 0.108 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Nonsense mutation |
0.25 | OR7E24-F11Shift | het unknown | Unknown | Insufficiently evaluated | Prioritization score: 2 Frameshift | |
0.25 | OR7E24-P242S | het unknown | 0.573 | 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 | CFH-H402Y | het unknown | 0.818 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
0.25 | CFH-E936D | het unknown | 0.209 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.504 (possibly damaging), Testable gene in GeneTests with associated GeneReview |
0.25 | SPATA7-D2N | het unknown | 0.155 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.665 (possibly damaging), Testable gene in GeneTests with associated GeneReview |
0.25 | 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 | 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 | COL11A2-E276K | het unknown | 0.320 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.651 (possibly damaging), Testable gene in GeneTests with associated GeneReview |
0.25 | TSEN15-G19D | het unknown | 0.295 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.932 (probably damaging) |
0.25 | TSEN15-Q59H | het unknown | 0.283 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: 0.961 (probably damaging) |
0.25 | STIL-A86V | het unknown | 0.633 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
0.25 | C13orf40-R6075C | homozygous | Unknown | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: Unknown | |
0.25 | C13orf40-L6011P | homozygous | Unknown | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: Unknown | |
0.25 | C13orf40-F5916L | homozygous | Unknown | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: Unknown | |
0.25 | C13orf40-N5750S | homozygous | Unknown | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: Unknown | |
0.25 | C13orf40-R5644T | homozygous | Unknown | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: Unknown | |
0.25 | C13orf40-S4943P | homozygous | Unknown | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: Unknown | |
0.25 | C13orf40-G4893S | het unknown | Unknown | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: Unknown | |
0.25 | C13orf40-V3805I | het unknown | Unknown | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: Unknown | |
0.25 | C13orf40-T3015I | het unknown | Unknown | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: Unknown | |
0.25 | C13orf40-T2812P | het unknown | Unknown | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: Unknown | |
0.25 | C13orf40-G2410R | homozygous | Unknown | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: Unknown | |
0.25 | C13orf40-E2111Q | het unknown | Unknown | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: Unknown | |
0.25 | C13orf40-A1822P | het unknown | Unknown | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: Unknown | |
0.25 | C13orf40-N1704H | het unknown | Unknown | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: Unknown | |
0.25 | C13orf40-C1275* | het unknown | Unknown | Insufficiently evaluated | Prioritization score: 2 Nonsense mutation | |
0.25 | C13orf40-P773L | het unknown | Unknown | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: Unknown | |
0.25 | C13orf40-I96V | het unknown | Unknown | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: Unknown | |
0.25 | C13orf40-C82S | het unknown | Unknown | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: Unknown | |
0.25 | PNPLA3-I148M | het unknown | 0.268 | Unknown pharmacogenetic | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: 0.778 (possibly damaging) |
0.25 | PNPLA3-K434E | homozygous | 0.801 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
0.25 | EP300-I997V | het unknown | 0.176 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
0.25 | MYH9-I1626V | het unknown | 0.289 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
0.25 | RPGRIP1-K192E | het unknown | 0.446 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
0.25 | RPGRIP1-A547S | het unknown | 0.164 | Complex/Other benign | Low clinical importance, uncertain | Probably benign. Implicated in causing autosomal recessive cone-rod dystrophy, but a later report found the same incidence in controls and concludes it is not causal. |
0.25 | RPGRIP1-E1033Q | het unknown | 0.256 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
0.25 | 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 | IKBKAP-I816L | het unknown | 0.316 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
0.25 | IKBKAP-G765E | het unknown | 0.315 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
0.25 | CDSN-N527D | homozygous | 0.849 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
0.25 | CDSN-L410S | het unknown | 0.699 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
0.25 | CDSN-S408A | het unknown | 0.162 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
0.25 | CDSN-S153Del | het unknown | Unknown | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: Unknown | |
0.25 | CDSN-M18L | het unknown | 0.298 | Unknown pharmacogenetic | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: Unknown |
0.25 | SETX-T1855A | het unknown | 0.508 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
0.25 | SETX-I1386V | het unknown | 0.494 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
0.25 | SETX-G1252R | het unknown | 0.494 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
0.25 | SETX-D1192E | het unknown | 0.598 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
0.25 | CROCC-R7G | homozygous | 1.000 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
0.25 | CROCC-A439V | het unknown | 0.342 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: 0.001 (benign) |
0.25 | CROCC-P511S | het unknown | 0.904 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: 0.94 (probably damaging) |
0.25 | CROCC-D586H | het unknown | 0.270 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: 0.991 (probably damaging) |
0.25 | CROCC-S2012Shift | het unknown | Unknown | Insufficiently evaluated | Prioritization score: 2 Frameshift | |
0.25 | CDA-K27Q | het unknown | 0.190 | Unknown pharmacogenetic | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: Unknown |
0.25 | PINK1-N521T | het unknown | 0.289 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
0.25 | MICA-Y59C | het unknown | 0.293 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
0.25 | MICA-V152M | het unknown | 0.314 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
0.25 | MICA-E196K | het unknown | 0.363 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
0.25 | MICA-S229G | het unknown | 0.320 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
0.25 | MICA-R274Q | het unknown | 0.538 | Unknown pharmacogenetic | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: Unknown |
0.25 | MICA-G318Shift | het unknown | 0.163 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 1 Frameshift |
0.25 | SLC34A3-G264S | het unknown | Unknown | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests | |
0.25 | SLC34A3-E513V | homozygous | 0.915 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: Unknown, Testable gene in GeneTests |
0.25 | ERCC6-Q1413R | het unknown | 0.145 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.004 (benign), Testable gene in GeneTests with associated GeneReview |
0.25 | ERCC6-R1213G | het unknown | 0.159 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: 0.957 (probably damaging), Testable gene in GeneTests with associated GeneReview |
0.25 | ERCC6-M1097V | het unknown | 0.153 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
0.25 | ERCC6-G399D | het unknown | 0.246 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
0.25 | ALDH5A1-H180Y | het unknown | 0.334 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
0.25 | HLA-DQB1-V235I | het unknown | 0.544 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
0.25 | HLA-DQB1-A172T | het unknown | 0.342 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
0.25 | HLA-DQB1-G157A | het unknown | 0.539 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
0.25 | HLA-DQB1-G157S | het unknown | 0.140 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
0.25 | HLA-DQB1-V148I | het unknown | 0.140 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
0.25 | HLA-DQB1-L28S | het unknown | 0.375 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
0.25 | HLA-DQB1-L28S | het unknown | 0.375 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
0.25 | HLA-DQB1-S27T | het unknown | 0.206 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
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 | THBD-A473V | het unknown | 0.117 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
0.25 | FMO3-E158K | het unknown | 0.374 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
0.25 | FMO3-E308G | het unknown | 0.104 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.141 (benign), Testable gene in GeneTests with associated GeneReview |
0.25 | 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 | ALX4-P102S | het unknown | 0.217 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
0.25 | ALX4-R35T | het unknown | 0.393 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: 0.985 (probably damaging), Testable gene in GeneTests with associated GeneReview |
0.25 | ARHGAP30-A644Shift | het unknown | Unknown | Insufficiently evaluated | Prioritization score: 2 Frameshift | |
0.25 | ARHGAP30-L591V | het unknown | 0.385 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: 0.011 (benign) |
0.25 | ITLN2-Y303* | het unknown | Unknown | Insufficiently evaluated | Prioritization score: 2 Nonsense mutation | |
0.25 | ITLN2-R103H | het unknown | 0.492 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: 0.001 (benign) |
0.25 | COL6A1-S890L | het unknown | 0.203 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
0.25 | GPT-H14N | het unknown | 0.363 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
0.25 | SLC19A1-H27R | het unknown | 0.447 | Unknown pharmacogenetic | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: 0.002 (benign) |
0.25 | SDR39U1-Q270R | het unknown | 0.755 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
0.25 | SDR39U1-L232F | het unknown | 0.735 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
0.25 | SDR39U1-G181Shift | het unknown | Unknown | Insufficiently evaluated | Prioritization score: 2 Frameshift | |
0.25 | SDR39U1-I79L | het unknown | 0.755 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
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 | het unknown | 0.344 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: Unknown, Testable gene in GeneTests |
0.25 | TG-D1838N | het unknown | 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 | CBR3-C4Y | het unknown | 0.391 | Unknown pharmacogenetic | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: 0.002 (benign) |
0.25 | NR_002144-DDDFE68Del | het unknown | Unknown | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: Unknown | |
0.25 | NR_002144-SE75P | het unknown | Unknown | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: Unknown | |
0.25 | NR_002144-L77Shift | het unknown | Unknown | Insufficiently evaluated | Prioritization score: 2 Frameshift | |
0.25 | NR_002144-Q280R | homozygous | 0.858 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
0.25 | NR_002144-Y307H | homozygous | 0.858 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
0.25 | NR_002144-L312R | homozygous | 0.856 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
0.25 | GARS-P42A | het unknown | 0.654 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
0.25 | DHODH-K7Q | het unknown | 0.560 | Unknown pharmacogenetic | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: 0.004 (benign) |
0.25 | RFWD3-T90N | homozygous | 0.789 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
0.25 | RFWD3-Q71Shift | het unknown | Unknown | Insufficiently evaluated | Prioritization score: 2 Frameshift | |
0.25 | 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 | PMS2-P470S | het unknown | Unknown benign | Low clinical importance, likely | Benign, common variant. | |
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 | MAP1B-I594V | homozygous | 0.932 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
0.25 | MAP1B-D983Shift | het unknown | Unknown | Insufficiently evaluated | Prioritization score: 2 Frameshift | |
0.25 | EIF2B5-I587V | het unknown | 0.370 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.001 (benign), Testable gene in GeneTests with associated GeneReview |
0.25 | 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 | het unknown | 0.773 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
0.25 | VWDE-S607F | het unknown | 0.748 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
0.25 | VWDE-G340D | het unknown | 0.845 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
0.25 | VWDE-F292I | het unknown | 0.615 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
0.25 | VWDE-S142F | homozygous | 0.722 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
0.25 | DRD3-G9S | het unknown | 0.482 | Unknown pharmacogenetic | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: Unknown |
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-V361L | het unknown | 0.671 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
0.25 | DAPL1-L60P | het unknown | 0.583 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: 0.127 (benign) |
0.25 | DAPL1-A66T | het unknown | 0.110 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
0.25 | DAPL1-R105* | het unknown | Unknown | Insufficiently evaluated | Prioritization score: 2 Nonsense mutation | |
0.25 | AHR-R554K | het unknown | 0.315 | Unknown pharmacogenetic | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: Unknown |
0.25 | CPOX-V294I | het unknown | 0.103 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: 0.006 (benign), Testable gene in GeneTests |
0.25 | CPOX-M131V | het unknown | Unknown | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests | |
0.25 | MYH15-T1125A | het unknown | 0.180 | Unknown pharmacogenetic | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: 0.007 (benign) |
0.25 | MYH15-H504Y | homozygous | 0.578 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: 0.997 (probably damaging) |
0.25 | MYH15-R454Q | het unknown | 0.107 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: 0.999 (probably damaging) |
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 | SLC22A2-S270A | het unknown | 0.876 | Unknown pharmacogenetic | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: Unknown |
0.25 | GPR56-S281R | het unknown | 0.750 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
0.25 | FAM186A-R2174* | het unknown | Unknown | Insufficiently evaluated | Prioritization score: 2 Nonsense mutation | |
0.25 | FAM186A-H2166Y | homozygous | 0.606 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
0.25 | FAM186A-A1720S | het unknown | Unknown | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: Unknown | |
0.25 | FAM186A-L1233P | homozygous | 0.633 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
0.25 | FAM186A-A465G | homozygous | 0.985 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
0.25 | FAM186A-K463T | homozygous | 0.985 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
0.25 | FAM186A-K187Q | homozygous | 0.606 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
0.25 | TLR6-S249P | het unknown | 0.855 | Unknown pharmacogenetic | 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 | FIG4-M364L | het unknown | 0.101 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.011 (benign), Testable gene in GeneTests with associated GeneReview |
0.25 | FIG4-V654A | het unknown | 0.467 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
0.25 | BBS12-R386Q | het unknown | 0.515 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.009 (benign), Testable gene in GeneTests with associated GeneReview |
0.25 | FANCI-A86V | het unknown | 0.219 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
0.25 | FANCI-C742S | het unknown | 0.234 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
0.25 | 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 | IL4R-E400A | het unknown | 0.270 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: 0.578 (possibly damaging) |
0.25 | IL4R-C431R | het unknown | 0.085 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: 0.999 (probably damaging) |
0.25 | IL4R-S503P | het unknown | 0.244 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.743 (possibly damaging) |
0.25 | IL4R-Q576R | het unknown | 0.405 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown |
0.25 | C12orf60-K65R | het unknown | Unknown | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: Unknown | |
0.25 | C12orf60-N103K | het unknown | Unknown | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: Unknown | |
0.25 | C12orf60-M184Shift | het unknown | Unknown | Insufficiently evaluated | Prioritization score: 2 Frameshift | |
0.25 | GHR-I544L | het unknown | 0.473 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.98 (probably damaging), Testable gene in GeneTests |
0.25 | 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 | CD19-R514H | het unknown | 0.035 | Unknown benign | Low clinical importance, uncertain | Presumed benign. |
0.25 | DOK7-G461D | het unknown | 0.128 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.565 (possibly damaging), Testable gene in GeneTests with associated GeneReview |
0.25 | WFS1-V333I | het unknown | 0.889 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
0.25 | WFS1-R611H | het unknown | 0.442 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: 0.99 (probably damaging), Testable gene in GeneTests with associated GeneReview |
0.25 | EVC-Y258H | het unknown | 0.721 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.985 (probably damaging), Testable gene in GeneTests |
0.25 | EVC-T449K | het unknown | 0.871 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: Unknown, Testable gene in GeneTests |
0.25 | EVC-R576Q | het unknown | 0.274 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.998 (probably damaging), Testable gene in GeneTests |
0.25 | ALG9-V289I | het unknown | 0.332 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: 0.907 (probably damaging), Testable gene in GeneTests with associated GeneReview |
0.25 | 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 | 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 | CFTR-V470M | het unknown | 0.621 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, 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 | CPS1-T344A | het unknown | 0.583 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.302 (possibly damaging), Testable gene in GeneTests with associated GeneReview |
0.25 | CPS1-T1406N | het unknown | 0.263 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
0.25 | NLRP1-M1184V | het unknown | 0.433 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
0.25 | NLRP1-V1059M | het unknown | 0.165 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: 0.006 (benign) |
0.25 | NLRP1-C911S | het unknown | Unknown | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: Unknown | |
0.25 | NLRP1-L155H | het unknown | 0.120 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.064 (benign) |
0.25 | MMAB-M239K | het unknown | 0.469 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
0.25 | MMAB-R19Q | het unknown | 0.283 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
0.25 | DSC3-R102K | het unknown | 0.479 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
0.25 | DSC3-S78T | het unknown | 0.478 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.314 (possibly damaging), Testable gene in GeneTests with associated GeneReview |
0.25 | AOX1-Q966* | het unknown | Unknown | Insufficiently evaluated | Prioritization score: 2 Nonsense mutation | |
0.25 | AOX1-H1297R | het unknown | 0.054 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
0.25 | ABCB11-V444A | het unknown | 0.606 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.002 (benign), Testable gene in GeneTests with associated GeneReview |
0.25 | SLC28A1-V189I | het unknown | 0.313 | Unknown pharmacogenetic | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: Unknown |
0.25 | SLC28A1-Q237K | het unknown | 0.241 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
0.25 | RAX-D44E | het unknown | 0.189 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.003 (benign), Testable gene in GeneTests with associated GeneReview |
0.25 | SLC35C1-I227V | het unknown | 0.156 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
0.25 | DSG2-R773K | het unknown | 0.221 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.003 (benign), Testable gene in GeneTests with associated GeneReview |
0.25 | FRZB-R324G | het unknown | 0.103 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 3 Polyphen 2: 0.993 (probably damaging) |
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 | UNC13D-K867E | het unknown | 0.596 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
0.25 | DNAI2-V495I | het unknown | 0.258 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
0.25 | DNAI2-A558T | het unknown | 0.674 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
0.25 | KRT13-T298A | homozygous | 0.835 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: Unknown, Testable gene in GeneTests |
0.25 | KRT13-A187V | homozygous | 0.715 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: Unknown, Testable gene in GeneTests |
0.25 | KRT13-T170S | het unknown | Unknown | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests | |
0.25 | COL9A1-Q621R | het unknown | 0.335 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
0.25 | TXNDC3-C208R | het unknown | 0.740 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
0.25 | TXNDC3-I493T | het unknown | 0.289 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.074 (benign), Testable gene in GeneTests with associated GeneReview |
0.25 | 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 | GUCY2D-L782H | het unknown | 0.165 | 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 | FANCD2-P714L | het unknown | 0.246 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview |
0.25 | 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 | GLI1-G933D | het unknown | 0.380 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: 0.916 (probably damaging) |
0.25 | GLI1-P996Shift | het unknown | Unknown | Insufficiently evaluated | Prioritization score: 2 Frameshift | |
0.25 | GLI1-E1100Q | homozygous | 0.586 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 0 Polyphen 2: Unknown |
0.25 | GPANK1-A111Shift | het unknown | Unknown | Insufficiently evaluated | Prioritization score: 2 Frameshift | |
0.25 | GPANK1-R41L | het unknown | 0.150 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 1 Polyphen 2: 0.999 (probably damaging) |
0.25 | ALG8-N222S | het unknown | 0.120 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: 0.001 (benign), Testable gene in GeneTests with associated GeneReview |
0.25 | XYLT2-T801R | het unknown | 0.225 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 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 | ATG16L1-T300A | het unknown | 0.347 | Unknown not reviewed | Insufficiently evaluated | Prioritization score: 2 Polyphen 2: Unknown |
0 | 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 |
0 | HFE-H63D | het unknown | 0.086 | Recessive pathogenic | Low clinical importance, uncertain | There have been some hypotheses that this variant contributes to causing hereditary hemachromatosis, possibly as a compound heterozygote, but some others treat it as a polymorphism. Cys282Tyr is the classic causal variant and itself has very low penetrance. Mouse studies indicates this variant has a similar but weaker effect; if it has any effect at all its penetrance may be quite low and/or require modifier alleles. |
Input file format: CGIVAR
Genome build: b37
Genome coverage: 2,774,466,182 bases (97.1% of callable positions, 90.1% of total positions)
Coding region coverage: 32,561,420 bases (97.8% of all genes, 98.6% of genes with clinical testing available)
Chromosomes: chr1, chr10, chr11, chr12, chr13, chr14, chr15, chr16, chr17, chr18, chr19, chr2, chr20, chr21, chr22, chr3, chr4, chr5, chr6, chr7, chr8, chr9, chrM, chrX, chrY