huAE6220 - GET-Evidence variant report

Variant report for huAE6220

Log file: 




VariantClinical
Importance
ImpactAllele
freq
Summary
1CASP10-I185RModerateUncertainUncertain pathogenic

Dominant, Heterozygous
0.0078125No reports for this variant, predicted to be damaging by Polyphen 2. Other damaging variants in this gene are reported to cause autoimmune lymphoproliferative syndrome.1
2CFTR-S1235RModerateUncertainUncertain pathogenic

Recessive, Carrier (Heterozygous)
0.00529838Reported to cause mild dysfunction of the cystic fibrosis gene, it may result in cystic fibrosis when combined with more severe variants.1
3SERPINA1-E288VLowWell-establishedWell-established pathogenic

Recessive, Carrier (Heterozygous)
0.0304889This variant represents the PiS variant in alpha-1-antitrypsin deficiency where a homozygous individual has 60% enzymatic activity. This variant alone is unlikely to much effect, but 3-4% of heterozygotes are compound heterozygous with the more severe PiZ variant, which is associated with an increased risk of emphysema and COPD.1
4COL4A1-Q1334HLowLikelyLikely pathogenic

Dominant, Heterozygous
0.324689This common variant has been associated with arterial stiffness and, in Japanese, a small increased risk of myocardial infarction (MI, a.k.a. heart attack). This last observation supported a dominant effect for this variant and, assuming a lifetime risk of 15% for MI, we estimate carriers have an additional risk of 0.5-3%.1
5MTRR-I49MLowLikelyLikely pathogenic

Recessive, Homozygous
0.451199This common variant (HapMap allele frequency of 31.3%) in a protein involved in folate (B9) and cobalamin (B12) metabolism and is often reported as "MTRR I22M" (an alternative transcript position). Mothers homozygous for this variant are associated with having around a increased chance of a child with Down syndrome (risk of 0.4%, average risk in population is 0.25%). Notably, age plays a far larger role in the rate of Down syndrome (risk is 4.5% for a mother 45-years-of-age), and it is unknown how this variant may combine with the effect of age. There are conflicting reports associating this variant with incidence of neural tube defects, possibly when combined with MTHFR A222V.1
6RPGRIP1L-A229TLowLikelyLikely pathogenic

Unknown, Heterozygous
0.0561443This variant is generally not considered pathogenic, but when combined with other severe variants it is associated with rare genetic diseases which involve retinal degeneration. Carrying this variant increases the risk of these diseases, but the overall increased risk is very small because the diseases are very rare.1
7rs5186LowLikelyLikely pathogenic

Unknown, Heterozygous
0.214878This common noncoding genetic variant has an allele frequency of ~30% and is associated with an increased risk of hypertension. If ~25% of non-carriers have hypertension, Bonnardeaux et al's data predict ~4% increased risk of hypertension per copy of this variant. This SNP is in the 3' noncoding region of the AGTR1 transcript (angiotensin II type 1 receptor), also known as AT2R1 or AT1R, which is a target of hypertension drugs.1
8BRCA2-N372HLowUncertainUncertain pathogenic

Recessive, Homozygous
0.23656This is a common variant of BRCA2 (HapMap allele frequency of 23%). The variant is weakly associated with an increased chance of breast cancer, and zygosity of the variant is associated with sex of children: male children are more likely to be homozygous for this variant, female children are more likely to be heterozygous.1
9WFS1-R611HLowUncertainUncertain not reviewed

Recessive, Homozygous
0.400446This 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
10TGIF1-P83ShiftLowUncertainUncertain pathogenic

Complex/Other, Heterozygous
0.138889Severe variants in this gene are associated with holoprosencephaly disorders when combined with loss-of-function variants in SHH. Haploinsufficiency was identified in some families with this condition. It is unclear how likely this variant is to occur in combination with an SHH variant, or what phenotypic effect the variant would have on its own.1
11RNASEL-R462QLowUncertainUncertain pathogenic

Complex/Other, Homozygous
0.278026Associated 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
12SP110-L425SLowUncertainUncertain pathogenic

Unknown, Homozygous
0.863357This 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
13TP53-P72RLowUncertainUncertain pathogenic

Unknown, Heterozygous
0.627743This 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
14H6PD-R453QLowUncertainUncertain pathogenic

Recessive, Carrier (Heterozygous)
0.308886This common variant may have a small pathogenic effect by contributing to cortisone reductase deficiency (a rare abnormality) when homozygous and combined with a serious pathogenic variant. The same authors have tested and ruled out a contribution to polycystic ovary syndrome (similar phenotype, more common disease).1
15rs1544410LowUncertainUncertain pharmacogenetic

Unknown, Heterozygous
0.351562rs1544410 is a Vitamin D Receptor (VDR) single nucleotide polymorphism. It is unlikely that it has functional significance because it is located in an intron (Liu et. al.), but it is in strong linkage disequilibrium with rs731236 (Dvornyk et al), which is located in an exon. 1
16FUT2-W154XModerateWell-establishedWell-established protective

Recessive, Carrier (Heterozygous)
0.490519This 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
17NPC1-H215RLowLikelyLikely protective

Complex/Other, Homozygous
0.295687This 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
18KCNJ11-K23ELowLikelyLikely protective

Unknown, Heterozygous
0.738148This 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
19IL7R-T244ILowLikelyLikely protective

Unknown, Heterozygous
0.210169The 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
20TGFB1-T263ILowUncertainUncertain protective

Dominant, Heterozygous
0.0205429Carriers may be less likely to have cleft lip and palate congenital deformity.1
21ARSA-N350SLowWell-establishedWell-established benign

Unknown, Heterozygous
0.183199This 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
22OCA2-H615RLowLikelyLikely benign

Complex/Other, Heterozygous
0.000650678Associated with lighter skin pigmentation in East Asian populations.1
23PKD1-A4059VLowLikelyLikely benign

Unknown, Heterozygous
0.0570413Probably benign.1
24PMS2-P470SLowLikelyLikely benign

Unknown, Heterozygous
0.374884Benign, common variant.1
25MLH1-I219VLowUncertainUncertain benign

Dominant, Heterozygous
0.239822Computational evidence, functional assays, and case/control studies suggest this variant is probably benign.1
26RPGRIP1-A547SLowUncertainUncertain benign

Complex/Other, Heterozygous
0.232202Probably 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
27VCAN-T689ALowUncertainUncertain benign

Unknown, Heterozygous
0.00644137Probably not pathogenic, seen in two healthy PGP participants, contradicting a severe pathogenic effect.1
28OFD1-Q545RLowUncertainUncertain benign

Unknown, Homozygous
0.000114142Rare, tentatively evaluated as benign. Polyphen 2 predicts damaging effect, but this is variant found in a healthy male PGP participant.1
29COL7A1-P1277LLowUncertainUncertain benign

Unknown, Heterozygous
0.0407139Polymorphism, presumed benign.1
30APOB-Y1422CLowUncertainUncertain benign

Unknown, Homozygous
0.999628This position is almost certainly an error in the HG18 reference sequence. 1
31FLNB-G925CLowUncertainUncertain benign

Unknown, Heterozygous
0.000650678Rare, tentatively classified as benign. Polyphen 2 predicts a damaging effect and other variants in this gene are reported to cause serious diseases, but most of these are dominant and have phenotypes contradicted by the presence of this variant in a healthy PGP participant. Variants reported to cause recessive disease are more severe than this variant (nonsense instead of missense mutations).1
32NF1-Q2721RLowUncertainUncertain benign

Unknown, Heterozygous
0.0078125Rare, tentatively evaluated as benign. Predicted to be damaging by Polyphen 2, but other variants are predicted to cause disease in a dominant manner and this variant is present in a healthy PGP participant.1
33SLC45A2-L374FLowUncertainUncertain benign

Unknown, Homozygous
0.691764Pigmentation allele for non-black hair, and consequently, possible increased susceptibility to malignant melanoma.1
34PCSK9-G670ELowUncertainUncertain benign

Unknown, Homozygous
0.888269This variant is likely benign. 1
35PTCH1-P1315LLowUncertainUncertain benign

Unknown, Homozygous
0.29631Common polymorphism, presumed benign.1
36KRT85-R78HLowUncertainUncertain benign

Recessive, Carrier (Heterozygous)
0.042466Presumed benign. Although this variant was implicated in causing ectodermal dysplasia in a recessive manner in two Pakistani families (one of which was large and consanguineous), GET-Evidence reports that the variant has been seen in 5 out of 114 random control chromosomes. This strongly contradicts a severe pathogenic effect.1
37FLG-R3530SLowUncertainUncertain benign

Unknown, Heterozygous
0.108849Tentatively classified as benign, although predicted by Polyphen 2 to be damaging. Other more severe null mutations (frameshift and nonsense) in this gene are reported to cause ichthyosis vulgaris in a recessive manner.1
38CD19-R514HLowUncertainUncertain benign

Unknown, Heterozygous
0.0482432Presumed benign.1
39ABCC11-G180RLowUncertainUncertain benign

Unknown, Heterozygous
0.0976947This variant is associated with dry type ear wax (a benign trait) in a recessive manner.1
40TAS2R38-I296VLowUncertainUncertain benign

Unknown, Homozygous
0.463376This 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
41TYR-S192YLowUncertainUncertain benign

Unknown, Homozygous
0.270682This variant is reported to affect skin pigmentation. It is associated with lighter skin in South Asians (OR 4-5) and with a lack of freckles in Europeans (OR 1.3).1
42TXNDC3-I338TLowUncertainUncertain benign

Unknown, Heterozygous
0.0377604Tentatively classified as benign, but predicted to be damaging and other variants in this gene are implicated in causing primary ciliary dyskinesia (situs inversus, chronic sinusitis, and bronchiectasis).1
43TPCN2-G734ELowUncertainUncertain benign

Unknown, Heterozygous
0.286166Pigmentation allele.1
44TAS2R38-A49PLowUncertainUncertain benign

Unknown, Homozygous
0.431121This variant is strongly associated with causing the "taster" phenotype of phenylthiocarbamine (PTC) in a dominant manner.1
45UNC13D-A59TLowUncertainUncertain benign

Unknown, Homozygous
0.0171965Probably benign. This variant was reported to cause haemophagocytic lymphohistiocytosis in a recessive manner, but its allele frequency is inconsistent with this hypothesis and so we evaluate it as a nonpathogenic polymorphism.1
VariantPrioritization scoreAllele
freq
Num of
articles
Zygosity and Prioritization Score Reasons

Exome coverage: 32147548 / 33282720 = 96.59%

GeneChromosomeCoverageMissingLengthMissing regions
1AGRN10.8343108504398810176138955553-955753, 957639, 957667, 976045-976052, 976069-976071, 976082-976087, 976095-976096, 976107-976108, 976111-976119, 976172-976182, 976199-976260, 976553-976745, 976895-976897, 976911, 976914, 976959, 976966, 976969, 976972, 976977, 978622, 978773-978777, 979359, 981582, 981777-981781, 981806-981808, 981810-981820, 981832-981838, 981848-981880, 981892-981896, 981902-981906, 981929-981937, 981943-982031, 982053-982076, 982200-982203, 983394, 983450-983457, 983484-983489, 983494, 983498-983507, 983564-983745, 984681-984687, 985175, 985371, 985379-985380, 986682-986688, 986704-986706, 986833-986834, 986867-986901, 986911-986936, 986962, 986985, 990280, 990291-990292, 990295-990298, 990301-990304
2GABRD10.949227373068436913591950863-1950930, 1957037
3PEX1010.872579001019371259812337925-2337926, 2337932-2337935, 2338169-2338176, 2340000-2340042, 2340112-2340115, 2340200, 2343841-2343874, 2343899-2343905, 2343920-2343941
4NPHP410.991123569259523842815924447, 5934715, 5935107-5935109, 5935132-5935142, 5935151-5935158, 5937274, 5964770-5964775, 6012788-6012794
5ESPN10.6479532163742790325656485016-6485223, 6485232-6485242, 6485249, 6485253, 6485256-6485299, 6488378-6488392, 6488426-6488432, 6500416, 6500420-6500422, 6500438-6500439, 6500444, 6500447-6500448, 6500465-6500482, 6500686-6500868, 6505843-6505863, 6508723, 6508731-6508735, 6508743-6508799, 6508809-6509123, 6511927-6511933
6PLEKHG510.8833490122295437231896527969, 6527984-6527988, 6528117-6528119, 6528486-6528488, 6529183-6529185, 6530825-6530881, 6530887-6530890, 6530912, 6531081-6531087, 6531595, 6531598-6531600, 6531687, 6532654-6532658, 6533411-6533412, 6533415-6533417, 6534073-6534172, 6534179-6534224, 6534511-6534579, 6534595-6534647, 6537695, 6557380-6557383
7KIF1B10.99830604178439531310318642-10318644, 10381807, 10425584-10425588
8PEX1410.9788359788359824113410659328, 10659349-10659352, 10659358-10659363, 10684434-10684439, 10684444, 10689965, 10690008-10690012
9TARDBP10.994377510040167124511082356-11082362
10MASP210.9912663755458518206111103543-11103560
11MTHFR10.999492643328261197111853987
12PLOD110.9848901098901133218411994849-11994880, 12023649
13CTRC10.99876084262701180715771131
14CLCNKA10.985949612403129206416356956-16356982, 16357040, 16357073
15CLCNKB10.996124031007758206416374883, 16383399-16383405
16ATP13A210.981089472198767354317313313, 17313316-17313334, 17313339-17313344, 17313581, 17313595, 17313601-17313617, 17313620, 17313628, 17313632, 17322919-17322922, 17326592-17326594, 17326751-17326762
17ALDH4A110.999408983451541169219199407
18PINK110.77835051546392387174620960042-20960428
19ALPL10.997460317460324157521904084, 21904087, 21904110, 21904141
20HSPG210.991120218579231171317622155544, 22155547, 22157530, 22170736, 22170765, 22181414-22181416, 22182016-22182017, 22182048-22182061, 22191460-22191462, 22198862-22198865, 22199126-22199127, 22199136-22199146, 22199516, 22199522-22199528, 22207008-22207009, 22263648-22263710
21WNT410.9261363636363678105622446745, 22469339-22469415
22GALE10.996179560649474104724122662-24122664, 24122672
23FUCA110.9550321199143563140124194432-24194474, 24194501-24194509, 24194747-24194752, 24194758-24194761, 24194776
24LDLRAP110.903991370010798992725870190-25870277, 25890189
25SEPN110.88968824940048184166826126722-26126904, 26139182
26HPCA10.934707903780073858233359386-33359389, 33359401-33359404, 33359415-33359420, 33359423, 33359428-33359432, 33359446-33359463
27GJB410.99875156054931180135227550
28GJB310.986469864698651181335251050-35251053, 35251061, 35251067, 35251078-35251082
29COL9A210.999033816425122207040782851, 40782854
30KCNQ410.85201149425287309208841249766-41249949, 41249963-41249965, 41249967, 41249973-41249980, 41249986-41249989, 41250055, 41284185-41284189, 41284207-41284209, 41284213, 41284243-41284284, 41284295-41284329, 41284342, 41284345-41284349, 41285103, 41285109-41285112, 41296779, 41303985, 41304071-41304078, 41304120
31CLDN1910.98666666666667967543201557, 43201560, 43201565-43201569, 43201642, 43201648
32LEPRE110.94889190411578113221143232218-43232219, 43232255-43232258, 43232261-43232264, 43232267-43232268, 43232278, 43232281-43232284, 43232316, 43232327-43232333, 43232336-43232344, 43232417-43232443, 43232462-43232471, 43232486-43232524, 43232570, 43232602, 43232630
33SLC2A110.9878296146044618147943424305-43424322
34MPL10.9858490566037727190843814949-43814954, 43814974-43814978, 43814982-43814988, 43814994-43814995, 43814998-43815004
35MUTYH10.9859783301465922156945797123-45797142, 45799228, 45799234
36STIL10.9958624256529616386747767943-47767958
37CPT210.9944360141628711197753662634-53662639, 53662644-53662647, 53662650
38DHCR2410.88652482269504176155155352568-55352569, 55352572-55352576, 55352579-55352616, 55352634-55352674, 55352687-55352725, 55352742-55352792
39PCSK910.9802789802789841207955505523-55505529, 55505543-55505555, 55505561-55505565, 55505668, 55505704-55505712, 55505715, 55521774, 55521777, 55521780, 55521786, 55529219
40ABCA410.99970683084142682294461677, 94461686
41DPYD10.997076023391819307897547887-97547894, 98144685
42COL11A110.98350742166025905457103364222-103364231, 103364238-103364284, 103364310-103364313, 103364542-103364549, 103471832-103471836, 103471839, 103471852-103471866
43GSTM110.19482496194825529657110230496-110230531, 110230792-110230867, 110231295-110231302, 110231308-110231313, 110231324-110231328, 110231337, 110231340-110231345, 110231670-110231751, 110231847-110231947, 110232893-110232988, 110233076-110233186, 110235888
44AMPD110.9991087344028522244115222939-115222940
45VANGL110.99365079365079101575116226596-116226600, 116226687-116226688, 116226691-116226693
46NOTCH210.973705501618121957416120539665-120539714, 120539739-120539745, 120539778-120539784, 120539913-120539919, 120539933-120539955, 120547962-120547968, 120548025, 120548051, 120548055, 120548091-120548097, 120572544-120572575, 120572609-120572610, 120611961-120612010
47FLG10.9428852781880869612186152276109-152276152, 152276279-152276285, 152276345-152276389, 152276459, 152276523-152276543, 152276580-152276635, 152276648-152276674, 152276696-152276702, 152277011-152277058, 152277081-152277103, 152277165-152277171, 152277396, 152277438-152277473, 152277714-152277720, 152277822, 152277826, 152277881-152277887, 152278047-152278049, 152278090-152278096, 152278242, 152278431-152278437, 152278689, 152278811-152278817, 152278853-152278859, 152279016-152279022, 152279062-152279068, 152279729, 152279743, 152280151-152280173, 152280347, 152280372, 152280468-152280474, 152280594-152280617, 152280642-152280653, 152280682-152280694, 152280733-152280762, 152280782, 152280788, 152280864, 152280900, 152281039, 152281205-152281231, 152281287-152281307, 152281479, 152281520-152281537, 152281690, 152281854-152281860, 152281948, 152284149-152284155, 152284200-152284217, 152284239-152284280, 152284374-152284414, 152284546-152284552, 152286002
48CHRNB210.97548045062956371509154540527-154540540, 154540560-154540578, 154544096, 154544303, 154544414-154544415
49PKLR10.9971014492753651725155261681, 155264447, 155269990-155269992
50LMNA10.9805996472663111567156105081-156105083, 156105738-156105745
51LMNA10.98947368421053211995156084727, 156084746, 156084751, 156084882-156084888, 156105081-156105083, 156105738-156105745
52SEMA4A10.9986876640419932286156131198, 156131203, 156131231
53NTRK110.956085319949811052391156830727-156830729, 156830738-156830757, 156830766-156830842, 156830849-156830852, 156843454
54MPZ10.9652509652509727777161279629-161279655
55TBX1910.9970304380103941347168260496-168260499
56SLC19A210.9939759036144691494169454958-169454960, 169454971-169454973, 169454982-169454983, 169455004
57F510.9989513108614276675169509585-169509586, 169510367, 169510380, 169510502, 169510515, 169510524
58NPHS210.884548611111111331152179544822, 179544851, 179544869-179544999
59RNASEL10.9995507637017112226182555447
60LAMC210.99190396426577293582183155497-183155525
61HMCN110.99964513839603616908185958650, 185958653-185958656, 186031041
62CFHR110.9899295065458210993196794740-196794743, 196794746-196794747, 196794758, 196794781, 196801005, 196801023
63ASPM10.99942495687177610434197115485, 197115488-197115491, 197115494
64CACNA1S10.99697616506581175622201022702-201022715, 201038654, 201081380, 201081390
65REN10.9934479934479981221204135405-204135408, 204135412-204135415
66CD4610.9941666666666771200207930362-207930368
67LAMB310.9997158283603313519209797024
68USH2A10.998590556730092215609216251489-216251499, 216251502-216251507, 216496825, 216496873, 216496884-216496885, 216595469
69PSEN210.997772828507831347227071476, 227071483, 227083129
70ADCK310.9984567901234631944227152907, 227152914, 227171803
71GJC210.369696969696978321320228345460-228345484, 228345501-228345509, 228345516-228345625, 228345631-228345729, 228345783-228345897, 228345909-228345937, 228345998-228346003, 228346014-228346150, 228346159-228346166, 228346169, 228346175, 228346179-228346180, 228346197-228346202, 228346212-228346213, 228346228-228346237, 228346267-228346300, 228346334-228346542, 228346583, 228346589, 228346596-228346601, 228346607-228346610, 228346622-228346638
72ACTA110.91622574955908951134229567849-229567893, 229567907-229567932, 229568078-229568089, 229568322-229568333
73LYST10.99973698053656311406235972423-235972425
74ACTN210.952327746741151282685236849974-236850079, 236850086-236850089, 236850092-236850099, 236917288-236917293, 236917299, 236920786-236920788
75MTR10.9986835176408653798237058744-237058748
76RYR210.999194847020931214904237791272, 237791275-237791277, 237821281, 237824161-237824167
77FH10.97912589693412321533241669402, 241669410-241669414, 241676970-241676986, 241682963-241682969, 241682972, 241682990
78NLRP310.98810671809707373111247582128-247582135, 247588053-247588081
79NET1100.991624790619771517915454698-5454699, 5454702-5454709, 5454750-5454754
80GATA3100.984269662921352113358097733, 8097737-8097739, 8097745-8097747, 8097758-8097761, 8100720-8100723, 8100732-8100736, 8100740
81PHYH100.9537856440511347101713341970-13342001, 13342028-13342042
82CUBN100.9993561442236971087216882345, 16882355, 17085923, 17142030-17142033
83PTF1A100.3049645390070968698723481460-23481717, 23481726-23481730, 23481737-23482158, 23482172
84PDSS1100.9879807692307715124826986691, 26986700-26986704, 26986707, 26986715-26986716, 26986744, 26986760-26986764
85RET100.9766816143497878334543572707-43572779, 43600520-43600524
86ERCC6100.9910754127621640448250740811-50740850
87CHAT100.91633288829551188224750822255-50822432, 50822455-50822461, 50854626-50854627, 50870731
88PCDH15100.9932076753268840588955591147-55591186
89EGR2100.9881201956673717143164573471-64573473, 64573477-64573481, 64573491, 64573494-64573495, 64573499, 64573533, 64573574-64573577
90CDH23100.99492840095465511005673537498, 73537504, 73537523, 73537535-73537538, 73571772, 73574765-73574807
91VCL100.9568281938326147340575757966-75757971, 75757980-75758011, 75758032-75758039, 75758049-75758090, 75758101-75758104, 75758114, 75758117-75758122, 75758130, 75854054-75854057, 75854060-75854080, 75854083, 75854092-75854095, 75864862-75864877, 75867069
92RGR100.98986486486486988886008780-86008787, 86017680
93LDB3100.9716117216117262218488476091, 88476133-88476171, 88476174-88476175, 88476181, 88476194, 88476206-88476211, 88476214-88476217, 88476271-88476275, 88476487-88476489
94GLUD1100.85152057245081249167788836362-88836368, 88854096-88854101, 88854106-88854116, 88854123-88854124, 88854158-88854177, 88854186-88854247, 88854283-88854315, 88854343-88854351, 88854357, 88854361, 88854364, 88854371-88854372, 88854379-88854386, 88854401, 88854404, 88854409-88854421, 88854430-88854435, 88854439-88854440, 88854451, 88854455, 88854460-88854464, 88854471-88854526
95ZFYVE27100.999190938511331123699512867
96HPS1100.99145299145299182106100177369-100177383, 100177397, 100177400, 100202915
97PAX2100.97151655119323371299102587332-102587364, 102587428-102587431
98FBXW4100.96771589991929401239103371146-103371148, 103454264, 103454296-103454331
99HPS6100.862972508591073192328103825232-103825242, 103825278-103825340, 103825345-103825362, 103825369, 103825372-103825384, 103825399-103825475, 103825479-103825481, 103825483-103825489, 103825492-103825493, 103825504-103825524, 103825549, 103825643-103825650, 103825659-103825673, 103825725, 103825773-103825803, 103825819-103825820, 103825823, 103825848-103825851, 103825865-103825866, 103826015-103826031, 103826062-103826081, 103826634
100SUFU100.953264604811681455104263917-104263923, 104263935, 104263939-104263977, 104263983-104264001, 104264035, 104264038
101COL17A1100.99755229194482114494105816814-105816816, 105816830-105816832, 105816838-105816842
102EMX2100.76416337285903179759119302779-119302806, 119302812-119302848, 119302883-119302887, 119302891-119302895, 119302903-119302910, 119302930-119302976, 119302990-119303015, 119303030-119303048, 119303111, 119303117-119303119
103BAG3100.895254629629631811728121411188-121411367, 121429666
104FGFR2100.9991879821356122463123274682-123274683
105HTRA1100.722799722799724001443124221169-124221518, 124221534-124221539, 124221558-124221566, 124221571-124221581, 124221596-124221602, 124221608-124221624
106ACADSB100.9976905311778331299124768570, 124768579, 124768583
107HRAS110.9789473684210512570534212-534223
108TALDO1110.96055226824458401014747482-747486, 747496, 747499, 747547-747578, 763395
109SLC25A22110.9115226337448686972792592-792597, 792605-792625, 792634-792641, 792651, 792654, 792662-792687, 792695-792706, 792870-792880
110PNPLA2110.862046204620462091515819719-819905, 823998-824013, 824016, 824040, 824659, 824744-824746
111CTSD110.9128329297820810812391775033, 1775243-1775244, 1775247, 1775323-1775353, 1775364-1775368, 1785022-1785089
112TNNI2110.9471766848816295491861667, 1861672-1861674, 1861853, 1862332-1862345, 1862351-1862352, 1862356, 1862359-1862365
113H19110.8963585434173711110712017634-2017637, 2017769-2017813, 2017819-2017860, 2018062-2018075, 2018158-2018161, 2018168, 2018363
114IGF2110.801687763713081417112161365-2161387, 2161389-2161394, 2161396-2161400, 2161404-2161444, 2161446-2161451, 2161457-2161459, 2161462-2161518
115TH110.960634920634926215752187750-2187751, 2187755-2187779, 2191019-2191022, 2191036, 2191043-2191045, 2191083, 2191953-2191973, 2191977-2191978, 2191988-2191990
116KCNQ1110.860167405219128420312466329-2466582, 2466596-2466602, 2466614-2466623, 2466635-2466638, 2466644, 2466655, 2869082-2869084, 2869220-2869223
117CDKN1C110.376445846477395939512905249-2905255, 2905274, 2905282-2905283, 2905900-2906364, 2906379-2906382, 2906385, 2906388-2906394, 2906398-2906399, 2906401-2906443, 2906450-2906508, 2906518, 2906637
118HBD110.9842342342342374445255652-5255658
119SMPD1110.985759493670892718966411928-6411942, 6411947, 6412741-6412745, 6412751, 6412757, 6412868-6412870, 6412883
120SBF2110.984324324324328755509838396-9838406, 9838425, 9838429-9838432, 10014002-10014017, 10315562-10315616
121KCNJ11110.998294970161982117317409321, 17409547
122ABCC8110.9972608512431513474617419279, 17449853, 17498297-17498303, 17498320-17498323
123USH1C110.93888888888889165270017522638, 17531112-17531192, 17531196, 17531199-17531200, 17531203-17531208, 17531226, 17531231-17531239, 17531242, 17531245, 17531248-17531283, 17531306-17531311, 17531314, 17531316-17531321, 17531326-17531338
124SLC6A5110.996658312447798239420622736-20622742, 20622996
125ANO5110.985412107950440274222276992, 22277003-22277039, 22283741, 22283744
126FANCF110.996444444444444112522646838-22646840, 22647233
127PAX6110.992907801418449126931811482-31811487, 31824306-31824308
128WT1110.78893178893179328155432449515-32449522, 32449527-32449530, 32456338-32456340, 32456493, 32456497, 32456513-32456517, 32456564, 32456572-32456876
129RAG1110.999361430395912313236594926-36594927
130ALX4110.9563106796116554123644331161-44331166, 44331183, 44331283-44331287, 44331294-44331297, 44331392-44331400, 44331403, 44331409-44331416, 44331569-44331575, 44331589-44331600, 44331611
131SLC35C1110.990530303030310105645827431, 45827434, 45827793-45827794, 45827839-45827843, 45832576
132PEX16110.999039385206531104145935985
133DDB2110.9922118380062310128447236763-47236772
134MADD110.99939320388353494447304443-47304445
135SLC39A13110.9892473118279612111647431751, 47433925, 47434951, 47436848-47436856
136RAPSN110.992736077481849123947460306-47460307, 47460323, 47460389, 47460393, 47460413, 47464282, 47464285, 47469518
137SERPING1110.9860279441117821150357365744, 57365755-57365772, 57365783-57365784
138SLC22A12110.9783393501805136166264367159, 64367174, 64367271-64367279, 64367286-64367297, 64367304-64367310, 64368230-64368235
139PYGM110.9909054962435723252964521138, 64527146-64527167
140MEN1110.996212121212127184864577544, 64577549, 64577574-64577578
141RNASEH2C110.969696969696971549565488168-65488172, 65488183-65488192
142EFEMP2110.997747747747753133265639786, 65639824-65639825
143CST6110.98666666666667645065779658, 65779661, 65779675-65779676, 65780395-65780396
144BBS1110.999438832772171178266299495
145SPTBN2110.9877317719224988717366455340-66455356, 66455682-66455689, 66457617, 66457620, 66457630, 66457730-66457734, 66457738, 66460715, 66460723-66460736, 66460813-66460832, 66463751, 66463754, 66472292, 66475206, 66475251-66475254, 66481562-66481572
146PC110.9903873338987834353766618374-66618389, 66620074, 66633658-66633674
147AIP110.99798590130916299367257534, 67257823
148NDUFS8110.99842022116904163367803942
149TCIRG1110.9823505816285644249367810271-67810280, 67810298-67810299, 67810471, 67810476-67810477, 67810940-67810942, 67810953-67810958, 67811319-67811325, 67811333, 67811346-67811355, 67811651, 67811654
150LRP5110.97380363036304127484868080183-68080273, 68133156-68133170, 68204447, 68204450, 68207363-68207370, 68207374-68207379, 68207382-68207384, 68216523, 68216530
151IGHMBP2110.9956405097250213298268703957-68703961, 68703972, 68704038, 68704532-68704535, 68704539-68704540
152DHCR7110.9852941176470621142871146574-71146584, 71146594-71146597, 71146668-71146673
153LRTOMT110.986301369863011287671819778-71819780, 71819816-71819818, 71819828, 71819842-71819846
154MYO7A110.9984957882069810664876922282-76922283, 76922295, 76922914-76922920
155FZD4110.93122676579926111161486665843-86665860, 86666035-86666127
156TYR110.995597484276737159089028410-89028416
157MTMR2110.9870600414078725193295657072-95657077, 95657088, 95657099-95657116
158TRPC6110.99499284692418142796101454201-101454214
159DYNC2H1110.998609501738121812945102991501, 103027313, 103043819, 103052502-103052503, 103062302-103062313, 103157045
160ATM110.9996728819103739171108204665-108204667
161ALG9110.97712418300654421836111742109-111742126, 111742132-111742145, 111742147-111742149, 111742176-111742182
162DLAT110.9979423868312841944111909970-111909973
163APOA1110.9776119402985118804116706610, 116706613, 116706725, 116706770, 116706774-116706776, 116706780, 116706796-116706804, 116706886
164ROBO3110.98269646719539724161124738929-124738945, 124742430-124742432, 124745465, 124745917, 124745922-124745923, 124745931-124745932, 124745942-124745946, 124746017, 124746185, 124746229-124746235, 124746263-124746292, 124746298-124746299
165ACAD8110.9991987179487211248134123529
166WNK1120.981116240033571357149862778-862819, 862853-862859, 862912-862943, 863068-863110, 863168, 863172, 863175, 863262-863268, 994487
167CACNA2D4120.996777973052141134141902902-1902904, 2027507, 2027538, 2027541-2027546
168CACNA1C120.989178478890417165612224510, 2705113, 2788904, 2791762-2791771, 2794934-2794940, 2795364-2795370, 2797801, 2797804, 2797821-2797830, 2797844, 2800286-2800309, 2800354-2800357, 2800362-2800364
169KCNA1120.976478494623663514885020689-5020716, 5020725-5020729, 5020756, 5021036
170VWF120.9648187633262329784426122729, 6125338-6125344, 6125717-6125753, 6127532-6127538, 6127637-6127661, 6127940-6127946, 6128064-6128087, 6128167-6128173, 6128339-6128357, 6128440-6128454, 6128784-6128790, 6131925-6131932, 6131955-6131982, 6132027-6132033, 6140738, 6140741, 6166037-6166083, 6166109-6166116, 6166160-6166198, 6166208, 6167116
171TNFRSF1A120.984649122807022113686438503, 6438506, 6438579-6438582, 6438593-6438599, 6438612-6438613, 6438622-6438626, 6438978
172SCNN1A120.995427526291721021876472609-6472618
173TPI1120.95733333333333327506976732-6976733, 6976737, 6976740, 6976755-6976762, 6976770-6976777, 6976804-6976812, 6976822, 6976831, 6976845
174ATN1120.980688497061296935737045600, 7045603-7045604, 7045607-7045610, 7045892, 7045899-7045912, 7045916, 7045926-7045929, 7046530, 7046533-7046534, 7047143, 7050601-7050638
175LDHB120.9820895522388118100521794908-21794925
176ABCC9120.999784946236561465022068662
177DNM1L120.9954771596562610221132832390-32832399
178PKP2120.9781225139220455251433049452-33049458, 33049505, 33049552-33049584, 33049639, 33049643, 33049654-33049665
179KIF21A120.9971921379863614498639836750-39836763
180LRRK2120.9980221518987315758440651171-40651176, 40713873, 40715849-40715856
181IRAK4120.997107736804054138344180483-44180486
182COL2A1120.9975358422939111446448376373, 48379572, 48380621-48380624, 48391416, 48398070, 48398080, 48398095-48398096
183MLL2120.976405441194173921661449420442-49420445, 49420793, 49420796-49420799, 49424126-49424130, 49424133, 49426567, 49426574, 49426621-49426647, 49426666-49426714, 49426726-49426794, 49426860-49426864, 49426902-49426953, 49427011-49427015, 49427023, 49427032, 49427097-49427098, 49427119-49427120, 49427198-49427226, 49427252-49427290, 49427320, 49427652, 49428016-49428018, 49431339, 49431343, 49431348-49431349, 49431358-49431361, 49431510-49431513, 49431543, 49431555-49431558, 49431566-49431575, 49431851, 49433317-49433318, 49433391, 49433394, 49434057, 49434067, 49434074, 49434283-49434295, 49434517, 49435121-49435140, 49435199, 49438634, 49440501-49440518
184DHH120.9269521410579387119149483664, 49483667-49483670, 49483691, 49483737-49483740, 49483748, 49483764-49483768, 49483803, 49483833-49483836, 49483840-49483841, 49483849-49483859, 49483864-49483868, 49483948-49483952, 49483986-49484009, 49484147-49484148, 49484151-49484156, 49484159-49484169
185TUBA1A120.866228070175446145649522195-49522241, 49522303-49522314, 49522578, 49522605
186ACVRL1120.9794973544973531151252307373-52307375, 52307378-52307393, 52307420-52307421, 52307425, 52308250-52308257, 52308301
187KRT81120.9565217391304366151852684005-52684029, 52684059, 52684896, 52685062-52685068, 52685075-52685083, 52685176-52685198
188KRT86120.9746748802190337146152695764, 52696930, 52702190-52702196, 52702342-52702369
189KRT83120.9736842105263239148252713129-52713135, 52715029-52715060
190KRT6B120.9852507374631325169552841355, 52844348-52844364, 52844397-52844403
191KRT6C120.9887905604719819169552862865, 52863554-52863556, 52863562, 52866011-52866019, 52866022, 52867193-52867196
192KRT6A120.990560471976416169552881519, 52881522-52881524, 52882202, 52885465-52885475
193KRT5120.9836435420191829177352908842-52908855, 52908868, 52908874-52908875, 52908902-52908906, 52908919-52908923, 52908944, 52910544
194KRT1120.9834625322997432193553069223-53069243, 53070154-53070157, 53072489-53072491, 53072509, 53072517-53072519
195KRT4120.998879551820732178553201547-53201548
196ITGA7120.9967892586106211342656101448-56101458
197RDH5120.99895506792059195756117765
198KIF5A120.9964504678928711309957944144-57944146, 57944166-57944173
199CYP27B1120.999345121152591152758159811
200TSFM120.99795501022495297858176595-58176596
201GNS120.9783001808318336165965152897-65152900, 65152929-65152935, 65152967-65152987, 65153019-65153022
202LEMD3120.9762426900584865273665563609-65563610, 65563613-65563615, 65563619-65563633, 65563727-65563733, 65563739-65563762, 65563769-65563770, 65563774, 65563781-65563783, 65563888, 65563893-65563896, 65564004-65564006
203TPH2120.991853360488812147372366345-72366356
204CEP290120.9966397849462425744088472922-88472925, 88472938, 88472946-88472958, 88472988, 88505502, 88505505, 88532967-88532968, 88533315-88533316
205HAL120.999493414387031197496370221
206TMPO120.94244604316547120208598909733-98909734, 98909747, 98909758, 98909771-98909840, 98909847-98909853, 98909871-98909896, 98909900-98909907, 98909912, 98909918-98909921
207SLC17A8120.9960451977401171770100774558, 100774576-100774577, 100774580-100774582, 100774586
208SYCP3120.99718706047822711102127403, 102131690
209UNG120.9469214437367350942109535549-109535598
210TRPV4120.9996177370030612616110236717
211ATP2A2120.98945349952061333129110719595-110719599, 110719602-110719604, 110719617-110719625, 110719638-110719647, 110719650, 110719702-110719706
212MYL2120.99401197604793501111348904-111348906
213ATXN2120.831811263318116633942111908482, 112036588-112037238, 112037276-112037286
214PTPN11120.99214365881033141782112856916-112856929
215TBX5120.97752087347463351557114793620-114793653, 114804118
216TBX3120.89919354838712252232115109848-115109851, 115111975-115112024, 115112036-115112071, 115112083, 115112162, 115112209-115112283, 115112299-115112343, 115112366, 115112370-115112375, 115112390, 115112403-115112406, 115120853
217HNF1A120.9963080168776471896121416599, 121416609, 121416612-121416613, 121416697, 121435334, 121437360
218HPD120.98477157360406181182122292611-122292628
219EIF2B1120.997821350762532918124106340, 124107283
220ATP6V0A2120.9996110462854912571124209332
221PUS1120.892523364485981381284132414268-132414275, 132414282-132414290, 132414303, 132414309, 132414318-132414335, 132414452-132414477, 132414489-132414531, 132425977, 132425984, 132425995-132426009, 132426014-132426017, 132426245-132426249, 132426252, 132426256-132426260
222SACS130.990247452692871341374023949264, 23949276-23949408
223PDX1130.8180751173708915585228494289, 28494334-28494340, 28494395, 28494398-28494403, 28494416, 28494423-28494427, 28494541-28494571, 28494584, 28498438-28498460, 28498507, 28498510-28498512, 28498603-28498649, 28498677-28498690, 28498699-28498705, 28498756-28498762
224B3GALTL130.9532398129592570149731774222-31774291
225FREM2130.9920084121976976951039261564-39261592, 39261609, 39261620-39261628, 39261632, 39261638-39261644, 39261909-39261933, 39261939-39261942
226TNFSF11130.97274633123692695443148513-43148528, 43148536-43148545
227SUCLA2130.99928160919541139248528368
228RB1130.9662719770362494278748878090-48878160, 48878167-48878185, 48947602-48947605
229RNASEH2B130.952076677316294593951484213-51484257
230ATP7B130.998635743519786439852518297, 52518300, 52518381, 52518402-52518403, 52518415
231CLN5130.999183006535951122477566281
232EDNRB130.999247554552291132978492528
233SLITRK1130.999521759923481209184453787
234ZIC2130.553470919324587141599100634319-100634758, 100634772, 100634777, 100634785-100634787, 100634790, 100634793-100634797, 100634822-100634827, 100634936-100634937, 100635004-100635042, 100637627-100637659, 100637699-100637867, 100637878-100637884, 100637901-100637904, 100637913-100637915
235PCCA130.98902606310014242187100741421-100741444
236ERCC5130.99740504836046114239103515391-103515401
237COL4A1130.98982035928144515010110817224, 110853806, 110959293, 110959317-110959352, 110959355, 110959357-110959366, 110959373
238F7130.92883895131086951335113765007-113765064, 113765075-113765081, 113772942-113772971
239F10130.9993183367416511467113777191
240GRK1130.99231678486998131692114321772, 114325873, 114325884-114325887, 114325951-114325953, 114325957, 114325969-114325971
241TEP1140.999619482496193788420850863-20850865
242RPGRIP1140.99611499611515386121769150-21769156, 21769167-21769172, 21769186, 21769189
243SLC7A7140.9869791666666720153623282110-23282115, 23282122, 23282124-23282136
244PABPN1140.6188925081433235192123790679-23791029
245MYH6140.998625429553268582023858206-23858213
246MYH7140.9969008264462818580823884645-23884648, 23884651-23884658, 23887511, 23887572, 23889411-23889414
247NRL140.7549019607843117571424550469-24550487, 24550539, 24550544-24550546, 24550551-24550557, 24550560, 24550575-24550630, 24550639-24550644, 24550653-24550661, 24550663, 24550669-24550680, 24550684-24550719, 24550725-24550726, 24550730-24550733, 24550744, 24550750-24550756, 24550763-24550766, 24550771, 24551819-24551823
248PCK2140.998959958398342192324568258-24568259
249FOXG1140.66734693877551489147029236486-29236971, 29237194-29237196
250CFL2140.9940119760479350135183744-35183746
251NKX2-1140.65008291873964422120636986483-36986485, 36986512, 36986518, 36986528, 36986535, 36986541, 36986554, 36986584, 36986599, 36986602-36986615, 36986627, 36986668, 36986685-36986773, 36986784-36986788, 36986794-36986796, 36986805-36986806, 36986809-36986921, 36986944, 36987026-36987073, 36987085-36987088, 36987116-36987125, 36988305-36988348, 36988361-36988395, 36988451-36988453, 36988465, 36989272-36989277, 36989289-36989297, 36989306-36989313, 36989317-36989330
252FANCM140.9973971042785116614745605363-45605366, 45605377-45605388
253C14orf104140.91607000795545211251450100672, 50100677-50100678, 50100681-50100684, 50100690-50100692, 50100702, 50100709, 50100717, 50100728-50100746, 50100777-50100801, 50100812-50100820, 50100822-50100827, 50100831-50100850, 50100861-50100865, 50100879-50100880, 50100887-50100893, 50100933-50100934, 50100939, 50100951-50100956, 50100959, 50100977-50100981, 50100988-50100994, 50101000, 50101009-50101011, 50101082-50101092, 50101097-50101102, 50101113-50101122, 50101130-50101132, 50101138-50101146, 50101157-50101166, 50101251-50101252, 50101260, 50101265, 50101271, 50101275, 50101353, 50101357-50101359, 50101363-50101366, 50101370, 50101376-50101379, 50101413, 50101549, 50101558-50101564, 50101682, 50101855
254ATL1140.997593261131174166251099016-51099019
255PYGL140.993710691823916254451381464, 51410951-51410957, 51411090-51411091, 51411104, 51411115-51411119
256GCH1140.8525896414342611175355369229-55369276, 55369286-55369288, 55369296, 55369303, 55369314, 55369325-55369381
257SIX6140.99865047233468174160976277
258SIX1140.99883040935673185561115531
259SYNE2140.9992762015055152072464676694, 64685203, 64692112-64692124
260RDH12140.99894847528917195168196067
261ZFYVE26140.99908136482947762068242685-68242688, 68274121, 68282648, 68282651
262PSEN1140.999287749287751140473678605
263VSX2140.9797421731123422108674706338-74706339, 74706394, 74706413, 74706422-74706426, 74706471-74706472, 74706490, 74706514-74706517, 74706603-74706608
264EIF2B2140.9886363636363612105675470034, 75471494-75471499, 75471588-75471592
265FLVCR2140.998734977862112158176112767-76112768
266ESRRB140.91028159790439137152776964608-76964654, 76964662-76964716, 76964727-76964729, 76964753-76964773, 76964784-76964794
267POMT2140.9760319573901554225377745193, 77786788-77786790, 77786869-77786889, 77786936-77786937, 77786946, 77786950-77786952, 77786956, 77786960-77786961, 77786965-77786969, 77786980-77786988, 77786993, 77786996-77786997, 77787017-77787019
268GALC140.9922254616132216205888459332, 88459337, 88459386, 88459390, 88459399, 88459410, 88459425, 88459431-88459434, 88459439, 88459446-88459449
269TTC8140.996124031007756154889343643-89343647, 89343655
270ATXN3140.994475138121556108692537355-92537357, 92537368-92537370
271VRK1140.999160369437451119197304106
272AMN140.630690161527175031362103390136, 103390140-103390145, 103395113-103395150, 103395213-103395215, 103395292, 103395296-103395301, 103395492, 103395495-103395502, 103395507, 103395510-103395511, 103395517, 103395524-103395532, 103395541-103395546, 103395552, 103395807-103395811, 103395820-103395855, 103396310-103396311, 103396337-103396387, 103396502-103396664, 103396743-103396765, 103396780-103396829, 103396913-103396934, 103396943-103396977, 103396986-103397017
273INF2140.873066666666674763750105167990-105167992, 105170260, 105173611-105173617, 105173646, 105173649, 105173660, 105173670, 105173674-105173696, 105173704-105173710, 105173713, 105173722-105173723, 105173732-105173739, 105173751, 105173756-105173782, 105173785, 105173787-105173791, 105173803-105173808, 105173835-105174164, 105174183-105174194, 105174320, 105176002-105176008, 105177499-105177500, 105179612-105179623, 105179633-105179641, 105181125-105181131
274NIPA1150.798989898989919999023049291-23049311, 23086234-23086411
275SNRPN150.99170124481328672325222102, 25222107, 25222963-25222966
276UBE3A150.9920091324200921262825616195-25616201, 25616566-25616572, 25616620-25616626
277OCA2150.996821613031398251728263663-28263669, 28326986
278TRPM1150.9970906068162914481231320557-31320567, 31320600-31320601, 31353650
279ACTC1150.99735449735453113435086894-35086896
280CHST14150.87709991158267139113140763413-40763493, 40763531-40763534, 40763536, 40763542, 40763564, 40763567, 40763574, 40763577-40763578, 40763689, 40763752, 40763778, 40763780-40763784, 40763792, 40763795-40763832
281CDAN1150.87649294245385455368443025316-43025328, 43026523-43026529, 43028511, 43028536-43028541, 43028543-43028548, 43028573-43028576, 43028587-43028599, 43028612-43028626, 43028669-43028670, 43028681-43028978, 43029211-43029300
282TTBK2150.998393574297196373543103892-43103896, 43103942
283STRC150.96621621621622180532843892844-43892865, 43896303-43896312, 43897496-43897502, 43900150-43900173, 43901476, 43903371, 43905032-43905076, 43905310-43905316, 43905325-43905327, 43907745-43907751, 43908092, 43908452-43908460, 43908555, 43910210-43910226, 43910440, 43910867-43910890
284STRC150.98827470686767759744002879-44002885
285STRC150.9815384615384636195044007207-44007213, 44007554, 44007914-44007922, 44008017, 44009626, 44009672-44009688
286DUOX2150.97546804389929114464745392305, 45403584-45403622, 45403632-45403667, 45403675-45403708, 45403758, 45403768-45403770
287GATM150.9772012578616429127245670583-45670585, 45670613-45670638
288SLC12A1150.9851515151515249330048527124-48527172
289CEP152150.9957703927492421496549036437-49036454, 49044627, 49073413, 49076223
290TPM1150.978947368421051885563335029-63335031, 63335107, 63335130, 63336003-63336006, 63336012-63336017, 63336028-63336030
291PPIB150.937019969278034165164455103-64455106, 64455109-64455119, 64455125-64455134, 64455144-64455147, 64455170-64455174, 64455179-64455185
292CLN6150.904914529914538993668500478-68500482, 68500668, 68521840-68521922
293NR2E3150.9873188405797114110472103130-72103133, 72103140, 72103859, 72103915, 72104158, 72104165-72104169, 72104188
294HEXA150.999371069182391159072668272
295HCN4150.72369878183832998361273614834, 73614872-73614873, 73614879-73614910, 73614925-73614929, 73615014, 73615017, 73615020, 73615085, 73615088-73615089, 73615113, 73615118-73615119, 73615142-73615150, 73615158, 73615202-73615242, 73615263-73615310, 73615401, 73615404, 73615407, 73615412, 73615495-73615534, 73615549, 73615574-73615657, 73615685-73615725, 73615740-73615746, 73615884-73615888, 73615897-73615900, 73615920-73615924, 73616076-73616078, 73616089-73616093, 73616096-73616098, 73616104-73616107, 73616146-73616180, 73616182, 73616186-73616193, 73616434-73616443, 73616569-73616571, 73624504-73624548, 73659861-73659863, 73659866, 73660074-73660611
296PSTPIP1150.998401278976822125177320202-77320203
297FAH150.9857142857142918126080445422-80445424, 80445432-80445437, 80445451, 80445457-80445459, 80445462-80445466
298POLG150.9895161290322639372089864045, 89876801-89876806, 89876809, 89876822, 89876824-89876825, 89876829-89876837, 89876844-89876860, 89876863-89876864
299MESP2150.82830820770519205119490319759-90319796, 90319836-90319873, 90319934-90319937, 90319940, 90319960-90319973, 90320010-90320013, 90320033-90320043, 90320052-90320073, 90320081-90320087, 90320089-90320106, 90320110-90320132, 90320135-90320146, 90320161, 90320222-90320231, 90320390, 90320433
300BLM150.999764927127411425491337587
301VPS33B150.996224379719537185491565416-91565422
302IGF1R150.9819688109161874410499192827-99192900
303HBZ160.44988344988345236429203914-203928, 203934-204035, 204041-204095, 204271-204334
304HBM160.8685446009389756426216076, 216321-216359, 216403-216405, 216419-216429, 216437, 216440
305HBA2160.8694638694638756429222912-222950, 222966-222979, 223183, 223223-223224
306GNPTG160.94335511982571529181401967-1402018
307CLCN7160.944995864350713324181497039, 1497071-1497087, 1500503, 1500507, 1524835-1524945, 1524974-1524975
308IGFALS160.989130434782612119321840786-1840793, 1841101-1841112, 1841646
309GFER160.582524271844662586182034220-2034477
310TSC2160.997050147492631654242103396, 2103401, 2103404-2103406, 2121873, 2121912-2121918, 2124358-2124360
311PKD1160.840613382899632058129122139823-2139827, 2139843, 2139855, 2140100, 2140454, 2140520-2140525, 2140680-2140689, 2140692-2140694, 2140909-2140943, 2140952-2141175, 2141424-2141517, 2141541-2141544, 2141547-2141548, 2141782-2141783, 2141809-2141819, 2142590-2142593, 2143078, 2143081, 2147969-2147985, 2149745-2149771, 2150035-2150072, 2150245-2150251, 2150470-2150484, 2152113-2152132, 2152168-2152185, 2152384-2152392, 2152484-2152503, 2152552-2152573, 2153657-2153741, 2153755-2153762, 2153820-2153826, 2154564-2154643, 2155335-2155369, 2155917-2155952, 2155981-2156024, 2156241-2156256, 2156442-2156476, 2156494-2156526, 2156577-2156584, 2156806-2156817, 2156847-2156853, 2156900-2156908, 2158595-2158601, 2158718-2158760, 2159095-2159130, 2159211, 2159228, 2159275-2159277, 2159456, 2159621-2159640, 2159712-2159718, 2159792-2159798, 2159992-2159999, 2160134-2160140, 2160460-2160462, 2160694-2160724, 2161153, 2161178, 2161716-2161748, 2161804-2161837, 2162431-2162437, 2162840-2162854, 2162960-2162964, 2163170-2163185, 2164208-2164214, 2164403-2164409, 2164446, 2164487-2164493, 2164532-2164538, 2164563-2164594, 2164705, 2164805-2164838, 2164911-2164917, 2165392-2165398, 2165605-2165626, 2166559-2166595, 2166835-2166857, 2166915-2166921, 2166978, 2167517, 2167525, 2167624-2167638, 2167671-2167673, 2167870-2167877, 2167920-2167926, 2167954-2167996, 2168026-2168047, 2168056-2168076, 2168160-2168161, 2168176-2168218, 2168232-2168235, 2168288-2168341, 2168351-2168417, 2168451, 2168750-2168775, 2169115-2169138, 2185476-2185690
312ABCA3160.995307917888562451152333205-2333211, 2338050-2338051, 2338062-2338071, 2338086-2338089, 2354110
313MEFV160.985507246376813423463304406-3304412, 3304448-3304450, 3304500, 3304516-3304519, 3304623, 3304626, 3304666, 3304671-3304686
314SLX4160.99891008174387655053632376, 3632473-3632476, 3633277
315CREBBP160.9439214081047941173293777728-3777751, 3777757-3777781, 3778165, 3778302-3778340, 3778401-3778403, 3778409-3778453, 3778456, 3778459-3778462, 3778567-3778576, 3778583-3778593, 3778599, 3778626-3778627, 3778639-3778642, 3778694, 3778788, 3778850-3778852, 3778862-3778866, 3778890, 3778900, 3778918-3778921, 3778931-3778939, 3778945-3778953, 3778972, 3778976-3778983, 3779007-3779013, 3779040-3779063, 3779080-3779088, 3779138, 3779214-3779215, 3779217-3779220, 3779225-3779228, 3779242, 3779245, 3779281, 3779315-3779345, 3779397, 3779408-3779414, 3779457-3779462, 3779468-3779476, 3779634, 3779647, 3779758, 3779761-3779762, 3929833-3929917
316GLIS2160.9123809523809513815754386975-4387014, 4387046-4387048, 4387075-4387114, 4387160-4387163, 4387171-4387176, 4387197, 4387200-4387203, 4387349-4387379, 4387396-4387404
317ALG1160.976344086021513313955121875, 5128834-5128838, 5128854, 5128861-5128866, 5131023, 5131037, 5131056, 5133751-5133758, 5134813-5134821
318ABAT160.980039920159683015038829636-8829663, 8870341, 8870344
319PMM2160.9986504723346817418891759
320ABCC6160.9931294326241131451216313509-16313515, 16315660, 16317267-16317289
321UMOD160.9932397295891813192320359596, 20359879-20359889, 20359897
322OTOA160.9862573099415247342021742185-21742191, 21747659-21747665, 21752064-21752071, 21756251-21756257, 21756295-21756301, 21756347-21756357
323OTOA160.966867469879523399622568186-22568193, 22572374-22572380, 22572418-22572424, 22572470-22572480
324SCNN1B160.997919916796674192323359955, 23391912, 23391915-23391916
325COG7160.998270644185044231323403701, 23436154-23436156
326CLN3160.996962794229314131728497696, 28497705-28497707
327TUFM160.989035087719315136828857558-28857559, 28857562-28857573, 28857579
328ATP2A1160.9787092481703364300628905909, 28911980-28912005, 28912016-28912034, 28912106, 28912112-28912117, 28912125-28912132, 28914662-28914663, 28914666
329PHKG2160.9221949221949295122130760142-30760236
330FUS160.9841872232764125158131195279-31195294, 31195676, 31195690-31195694, 31195708, 31195712, 31196395
331SLC5A2160.9920752847944516201931500060-31500062, 31500068-31500078, 31500465, 31501745
332NOD2160.9903938520653230312350745359-50745384, 50745532, 50745547, 50745809, 50745812
333SALL1160.9889308176100644397551175655-51175662, 51175665-51175672, 51175679, 51185077-51185100, 51185134-51185136
334RPGRIP1L160.999493414387032394853672318, 53675230
335MMP2160.9757942511346448198355513399, 55513434, 55513439-55513445, 55513448-55513449, 55513452-55513488
336SLC12A3160.997413514387338309356901106, 56921837-56921841, 56921845, 56921934
337COQ9160.99791013584117295757481418, 57481424
338GPR56160.999515503875971206457693369
339TK2160.985930735930741392466583850, 66584009, 66584021-66584031
340HSD11B2160.79638752052545248121867465152-67465340, 67465364, 67469975-67469977, 67469982-67469989, 67469996, 67469999-67470009, 67470152-67470154, 67470252-67470253, 67470261, 67470277, 67470284-67470289, 67470534-67470538, 67470548-67470551, 67470558-67470569, 67470692
341LCAT160.9924414210128510132367976838, 67976972, 67977000-67977003, 67977080-67977083
342CDH3160.99959839357431249068679554
343CDH1160.9924499811249520264968771322-68771326, 68771335-68771339, 68771349-68771356, 68771362, 68771365
344COG8160.950516585100691183969364772-69364781, 69364801-69364823, 69373174-69373180, 69373236, 69373242-69373249, 69373252, 69373259, 69373273, 69373364-69373402
345HP160.9492219492219562122172091292-72091314, 72094656-72094694
346GCSH160.84482758620698152281129803-81129883
347GAN160.90468227424749171179481348719-81348885, 81399017-81399020
348MLYCD160.7085020242915432148283932750-83933046, 83933056-83933129, 83933135-83933173, 83933191-83933194, 83933213, 83933224-83933225, 83933231-83933233, 83933269-83933273, 83948743-83948747, 83948757-83948758
349FOXF1160.79385964912281235114086544176-86544238, 86544248, 86544283, 86544579, 86544582, 86544596-86544599, 86544702-86544713, 86544764, 86544769-86544783, 86544789-86544790, 86544793, 86544842-86544879, 86544886-86544929, 86544981-86544990, 86544996, 86544998-86545000, 86545014-86545017, 86545037-86545069
350FOXC2160.61155378486056585150686601099-86601106, 86601116-86601121, 86601138, 86601141, 86601153, 86601157-86601161, 86601428, 86601434-86601436, 86601451-86601460, 86601513, 86601557-86601568, 86601602, 86601611, 86601628, 86601648, 86601658, 86601661, 86601665-86601672, 86601683-86602202, 86602337, 86602363
351JPH3160.91366266132621194224787636908-87636926, 87678138-87678152, 87678159-87678160, 87723297-87723318, 87723325-87723362, 87723509, 87723524-87723530, 87723543-87723548, 87723553-87723560, 87723588-87723620, 87723674-87723677, 87723687-87723714, 87723723-87723728, 87723752-87723756
352CYBA160.863945578231298058888709761-88709784, 88709803-88709809, 88709815, 88709828-88709837, 88709874-88709876, 88709880-88709886, 88709966-88709972, 88712584, 88712592, 88717376-88717387, 88717391-88717396, 88717407
353APRT160.99815837937385154388876530
354GALNS160.91332058636074136156988884451-88884453, 88884463, 88884466, 88884473, 88884476-88884485, 88923166-88923285
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356FANCA160.96955128205128133436889805040-89805056, 89842160-89842205, 89882945-89882973, 89882983-89883023
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472TYROBP190.9882005899705433936398367, 36398370-36398371, 36398374
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474WDR62190.9949693788276523457236545902-36545904, 36595851-36595870
475RYR1190.951114639147987391511738931385-38931399, 38931409-38931438, 38931451-38931461, 38931469-38931477, 38931500-38931501, 38942450, 38942505-38942509, 38943641-38943654, 38956854-38956856, 38964327-38964333, 38968509-38968510, 38969136, 38976378-38976380, 38976641-38976655, 38976671-38976673, 38976678-38976683, 38976713-38976759, 38987506-38987509, 38993170-38993183, 38993258, 38998408-38998412, 38998418-38998428, 39013668, 39037101-39037134, 39037159-39037161, 39055630, 39055636, 39055649, 39055717-39055718, 39055727-39056187, 39056213-39056216, 39056225-39056233, 39056260-39056261, 39056290-39056291, 39056305-39056311, 39056394-39056395
476ACTN4190.9751461988304168273639138422, 39138425, 39138429-39138433, 39138445-39138446, 39138482, 39138485, 39138495-39138497, 39138504, 39138506-39138547, 39214695, 39214860-39214861, 39214866, 39216467-39216473
477DLL3190.89445341949381196185739990003, 39993467, 39993470-39993477, 39993482-39993487, 39993502-39993503, 39993513, 39993518, 39993541-39993542, 39993544-39993549, 39993560, 39993573, 39993577, 39993585-39993589, 39993595-39993616, 39993620-39993626, 39993629-39993638, 39993640-39993641, 39993644, 39993660-39993663, 39993682, 39997722-39997724, 39997798-39997799, 39997813-39997823, 39997836-39997866, 39997873, 39997889-39997895, 39997906-39997913, 39997938-39997944, 39998011-39998023, 39998030, 39998068, 39998071, 39998081-39998087, 39998094-39998103, 39998111-39998112, 39998125-39998132
478PRX190.97127222982216126438640900948, 40901306-40901328, 40903418, 40903421-40903431, 40903435-40903436, 40909622-40909661, 40909672, 40909684, 40909700-40909728, 40909753-40909769
479TGFB1190.9275362318840685117341837009, 41837012-41837017, 41837021, 41837027-41837079, 41837115, 41838170-41838175, 41854252, 41858596-41858597, 41858741, 41858749-41858750, 41858928-41858938
480BCKDHA190.999252615844541133841930368
481ATP1A3190.96030451332246146367842470811-42470813, 42470827, 42470953-42470957, 42470968, 42470986-42470987, 42470995, 42471005-42471022, 42471050, 42471062-42471064, 42471185, 42471309-42471314, 42471318-42471351, 42471362, 42471365, 42471369-42471371, 42480568-42480601, 42480623, 42480682-42480708, 42489315, 42498227-42498228
482ETHE1190.99869281045752176544012209
483BCAM190.948065712771698188745312388, 45312392-45312396, 45312407-45312412, 45312415, 45312419-45312422, 45312431, 45312436-45312437, 45312446-45312447, 45321861-45321863, 45322125, 45324009-45324049, 45324055-45324079, 45324173-45324178
484APOE190.8165618448637317595445411791-45411792, 45411875, 45411897-45411909, 45411915-45411922, 45411927, 45411941, 45411944-45411981, 45412005, 45412038-45412047, 45412050, 45412053-45412054, 45412092-45412098, 45412109, 45412112, 45412115, 45412122-45412143, 45412146-45412149, 45412152, 45412175-45412185, 45412200-45412210, 45412213, 45412218, 45412222-45412223, 45412227-45412231, 45412234, 45412242-45412245, 45412248-45412251, 45412281, 45412344-45412354, 45412356-45412360, 45412376-45412378
485APOC2190.99673202614379130645452438
486BLOC1S3190.6436781609195421760945682586, 45682694-45682698, 45682705, 45682734-45682736, 45682749, 45682782-45682819, 45682829-45682861, 45682880-45682977, 45682985-45683007, 45683036-45683044, 45683055-45683058, 45683078
487ERCC2190.9921156373193218228345867282-45867286, 45867300-45867301, 45867310-45867315, 45867329, 45867353, 45867362, 45868309, 45873797
488OPA3190.99815837937385154346087957
489SIX5190.80405405405405435222046269947-46269948, 46270009-46270013, 46270144-46270146, 46270150-46270152, 46270157-46270162, 46271576-46271581, 46271604-46271608, 46271629-46271643, 46271654-46271660, 46271664-46271666, 46271670-46271675, 46271683, 46271693-46271696, 46271706-46271711, 46271722, 46271734-46271742, 46271750-46272102
490DMPK190.8994708994709190189046273772-46273807, 46274269, 46274296-46274318, 46274626-46274632, 46285478, 46285489-46285610
491FKRP190.63373655913978545148847258736, 47259014-47259033, 47259060, 47259063-47259065, 47259068-47259081, 47259088-47259103, 47259106-47259110, 47259113-47259121, 47259124-47259126, 47259133-47259139, 47259143-47259150, 47259154, 47259158, 47259161, 47259164-47259167, 47259170-47259206, 47259225-47259227, 47259256-47259267, 47259272, 47259280-47259281, 47259285-47259291, 47259311, 47259316, 47259340-47259539, 47259577-47259607, 47259622-47259627, 47259630-47259634, 47259653-47259656, 47259658-47259663, 47259670, 47259673-47259692, 47259707-47259711, 47259719-47259762, 47259783-47259795, 47259827-47259833, 47260044, 47260055, 47260067-47260097, 47260124-47260133, 47260136-47260137
492CRX190.982222222222221690048342651-48342665, 48343034
493DBP190.7229038854805727197849138837-49139034, 49139045, 49139049, 49139074-49139085, 49139093-49139098, 49139109-49139158, 49139211-49139212, 49139224
494BCAT2190.995759117896525117949303456, 49303470, 49303485, 49303490, 49303493
495MED25190.95365418894831104224450333137, 50333183, 50333195-50333197, 50333355-50333360, 50333370, 50333770-50333798, 50333801-50333802, 50334042, 50334102-50334133, 50335411-50335413, 50338793, 50338844, 50339526-50339530, 50339533-50339550
496PNKP190.9865900383141821156650364882, 50364927, 50365039-50365042, 50365116, 50365119, 50365682, 50365827-50365830, 50365837-50365838, 50365841, 50365854-50365856, 50365954, 50365989
497MYH14190.9900180003272861611150713651, 50764862, 50764879, 50770221, 50770234-50770240, 50770250-50770256, 50770262, 50781477-50781483, 50789888-50789922
498KCNC3190.5712401055409975227450823503-50823592, 50824007, 50826334-50826344, 50826352-50826357, 50826366, 50826377, 50826380, 50826384, 50826408, 50826411, 50826424, 50826428, 50826434-50826446, 50826448-50826450, 50826453, 50826459, 50826463-50826475, 50826546, 50826551-50826563, 50826567-50826569, 50831470-50831772, 50831789-50832056, 50832074-50832080, 50832107-50832339
499KLK4190.967320261437912576551412519-51412532, 51412580, 51412610, 51412652, 51412663-51412670
500ETFB190.999039385206531104151856425
501NLRP12190.9956057752667914318654313628-54313629, 54313647-54313650, 54313653, 54313657, 54313662-54313663, 54313665, 54314391-54314393
502PRKCG190.91595033428844176209454385763-54385768, 54385777-54385804, 54385819-54385820, 54385905, 54385914-54385916, 54392937-54392943, 54392961-54392984, 54392992-54392995, 54393140-54393170, 54393180, 54393183, 54393187-54393194, 54393204-54393216, 54393219-54393227, 54393231, 54393237-54393241, 54393248-54393270, 54401312-54401319, 54410093
503PRPF31190.9949150054627133, 54631502-54631509
504TSEN34190.8928188638799610093354695325-54695336, 54695344-54695393, 54695401-54695438
505TNNT1190.948035487959444178955648575, 55648580, 55652284, 55652302-55652305, 55652320-55652322, 55657804-55657834
506TNNI3190.973727422003281660955667599, 55667603-55667609, 55667618-55667622, 55667632, 55667680, 55667683
507TPO20.9414703783012116428021480860, 1480863-1480881, 1480893-1480894, 1480951-1480997, 1481009-1481023, 1481073, 1481087, 1481102-1481108, 1481138-1481174, 1481216-1481226, 1481255-1481277
508RPS720.95726495726496255853623227-3623235, 3623238, 3623246-3623260
509KLF1120.9714100064977344153910183844-10183885, 10188426, 10188429
510LPIN120.997755331088666267311911798-11911802, 11928548
511MYCN20.77777777777778310139516082384-16082386, 16082391-16082410, 16082472, 16082563-16082566, 16082572-16082575, 16082602-16082859, 16082872-16082874, 16082877, 16082887-16082892, 16082903-16082906, 16082909, 16085844-16085848
512MATN320.88158795345654173146120212177, 20212181-20212194, 20212207-20212247, 20212253-20212254, 20212278-20212392
513APOB20.99539877300613631369221266736-21266797, 21266809
514POMC20.94527363184084480425384158-25384163, 25384172, 25384176-25384187, 25384356, 25384381-25384390, 25384408-25384412, 25384424, 25384428-25384430, 25384433-25384434, 25384464-25384466
515OTOF20.96262929596263224599426684956, 26690078, 26690081-26690085, 26696961-26696962, 26697381-26697385, 26697389-26697403, 26697406, 26697414-26697417, 26697429-26697435, 26697443, 26697448-26697449, 26697462, 26697467, 26697484, 26697489, 26699759-26699906, 26700040-26700046, 26700049, 26700062, 26700100-26700105, 26700109-26700115, 26700120, 26700123, 26712596, 26712606-26712608
516C2orf7120.9963796224463414386729293653-29293655, 29293662-29293665, 29294157-29294163
517ALK20.9950647748303524486329443700-29443701, 29474100, 30143214, 30143383, 30143435, 30143439-30143444, 30143454-30143462, 30143475, 30143499, 30143503
518XDH20.999750124937531400231620574
519SRD5A220.964566929133862776231805821-31805841, 31805876-31805880, 31805883
520SPAST20.81469475958941343185132288918, 32288921, 32288935-32288940, 32288945-32288946, 32288983-32289315
521CYP1B120.9497549019607882163238301934, 38301938, 38301957-38301960, 38301963-38301964, 38301972-38301976, 38301983-38301987, 38302014-38302021, 38302026-38302063, 38302095, 38302098, 38302173-38302179, 38302184, 38302197-38302199, 38302207-38302208, 38302292, 38302326, 38302422
522ABCG520.986196319018427195644058951, 44058960-44058966, 44058977, 44058984, 44058989-44058996, 44059117, 44059129-44059132, 44059172-44059173, 44059176-44059177
523ABCG820.9930761622156314202244102343-44102344, 44102353-44102364
524LRPPRC20.9976105137395510418544222950, 44222955-44222961, 44222978, 44222988
525SIX320.8278278278278317299945169334-45169340, 45169346-45169375, 45169430-45169432, 45169435-45169438, 45169449, 45169501-45169541, 45169560-45169596, 45169640-45169646, 45169654, 45169754-45169760, 45169800, 45170029-45170032, 45170035, 45171745, 45171751-45171760, 45171772-45171777, 45171782-45171783, 45171786-45171792, 45171831, 45171834
526MSH220.996791443850279280547639585, 47639588, 47639614-47639619, 47639630
527MSH620.94072985549841242408348010373-48010581, 48010600-48010632
528LHCGR20.9876190476190526210048982740-48982745, 48982749, 48982753-48982755, 48982771-48982776, 48982781, 48982789-48982796, 48982802
529FSHR20.99856321839083208849190240-49190242
530NRXN120.9943502824858825442550170902-50170905, 51254913-51254917, 51254923, 51254925, 51254927-51254932, 51255066, 51255075, 51255092, 51255306, 51255324, 51255345, 51255409-51255410
531EFEMP120.996626180836715148256094278-56094281, 56144941
532ATP6V1B120.994811932555128154271163085-71163091, 71163116
533DYSF20.999685534591192636071694047-71694048
534SPR20.7150127226463122478673114562-73114751, 73114759-73114767, 73114770, 73114775, 73114779-73114780, 73114784, 73114786, 73114791-73114796, 73114800-73114804, 73114815, 73114825-73114830, 73114842
535ALMS120.991122840690981111250473612997-73613074, 73613086-73613103, 73613162-73613163, 73613168-73613170, 73613284, 73613310, 73827996-73828002, 73828342
536SLC4A520.999707088459291341474460641
537DCTN120.999218139171233383774598122-74598123, 74598787
538MOGS20.9828957836117743251474692110-74692111, 74692114-74692139, 74692265, 74692352-74692364, 74692367
539HTRA220.952069716775666137774757134-74757139, 74757246-74757250, 74757255, 74757258-74757265, 74757271-74757272, 74757347-74757368, 74757437-74757444, 74757449-74757454, 74757468-74757471, 74757530, 74757538, 74757541, 74757557
540SUCLG120.9692603266090332104184686320-84686351
541GGCX20.998682476943353227785788521-85788522, 85788544
542SFTPB20.998254799301922114685892790, 85895272
543REEP120.947194719471953260686564602-86564633
544EIF2AK320.9713518352730596335188926577, 88926615-88926638, 88926649-88926658, 88926677-88926680, 88926684, 88926687, 88926695-88926708, 88926714, 88926717-88926727, 88926730-88926732, 88926750-88926755, 88926764-88926783
545TMEM12720.881450488145058571796930876-96930888, 96930902-96930922, 96930933, 96930963, 96930972-96930974, 96930979, 96931008-96931013, 96931028, 96931031, 96931037-96931039, 96931070-96931097, 96931104-96931109
546SNRNP20020.998908126657317641196967398-96967404
547ZAP7020.9817204301075334186098340580, 98340717-98340718, 98340725, 98340728-98340730, 98340751-98340756, 98340836-98340842, 98340852-98340863, 98354026, 98354462
548RANBP220.980155038759691929675109336124, 109347230, 109357110-109357116, 109363251-109363254, 109368104-109368110, 109371632-109371662, 109382878-109382891, 109383268-109383274, 109383295-109383321, 109383354-109383360, 109383675, 109383792-109383819, 109383968-109384013, 109384628-109384634, 109399233-109399236
549MERTK20.97633333333333713000112656313-112656373, 112786349-112786358
550GLI220.888048729258565334761121554964, 121555024-121555032, 121726293-121726316, 121726352, 121726484-121726491, 121727990, 121728020-121728025, 121729610-121729619, 121729626-121729632, 121745825-121745827, 121745908-121745910, 121746074-121746418, 121746425-121746459, 121746473-121746483, 121746506-121746512, 121746515-121746516, 121746522-121746531, 121746549, 121746556, 121746569, 121746572, 121746582-121746607, 121746801-121746813, 121747049, 121747200, 121747461, 121747665, 121747668-121747670
551BIN120.9994388327721711782127864452
552PROC20.881673881673881641386128178944, 128180493-128180517, 128180610-128180747
553CFC120.78422619047619145672131279061-131279078, 131279620, 131280369-131280477, 131280839-131280846, 131285311, 131285377, 131285393-131285398, 131285404
554LCT20.9998271092669415784136575567
555MCM620.99351175993512162466136616937, 136616943-136616945, 136616948-136616957, 136616972, 136633906
556ZEB220.97832647462277793645145147394-145147399, 145274845-145274917
557NEB20.99959947932312819974152432815-152432820, 152432854, 152497024
558SCN2A20.999169159189156018166171996-166171999, 166179789
559SCN9A20.99747219413549155934167099094-167099098, 167099107-167099110, 167141141, 167168093-167168097
560ITGA620.944444444444441823276173292517-173292698
561CHN120.98550724637681201380175689246, 175869622-175869640
562HOXD1320.654069767441863571032176957619-176957914, 176957927-176957977, 176957983-176957989, 176958169-176958171
563AGPS20.96256954982296741977178257578-178257612, 178257636-178257660, 178257707, 178257710-178257714, 178257726-178257731, 178257741-178257742
564PRKRA20.941613588110455942179306386-179306401, 179315704-179315709, 179315712, 179315723-179315724, 179315726-179315753, 179315756-179315757
565TTN20.9992917564440271100248179392330-179392362, 179414735, 179434740-179434751, 179435184, 179464139, 179502116-179502123, 179538422-179538425, 179598548-179598551, 179598570-179598575, 179634449
566CERKL20.9993746091307111599182521539
567COL3A120.99341058850261294401189860441-189860458, 189860865, 189861170-189861177, 189861182, 189871665
568SLC40A120.9982517482517531716190428378-190428379, 190436511
569PMS120.9996427295462712799190732563
570STAT120.98357745228584372253191843671-191843673, 191859805-191859823, 191859828, 191859887-191859891, 191859894-191859896, 191859900-191859905
571CASP820.99567099567171617202137464-202137470
572ALS220.99698431845597154974202626363-202626377
573BMPR220.9996791786974713117203242269
574NDUFS120.9967948717948772184206997809-206997815
575FASTKD220.9995311767463712133207652758
576ACADL20.9992266047950511293211059960
577CPS120.9984454807905874503211455605, 211455608-211455609, 211471655-211471658
578ABCA1220.99833076527992137788215797420-215797421, 215797424, 215798895-215798897, 215854157-215854160, 215854164, 215854184, 215854340
579PNKD20.9948186528497461158219204555, 219204559-219204562, 219204566
580WNT10A20.857256778309411791254219745718-219745722, 219745743-219745784, 219745817-219745819, 219757604-219757616, 219757668-219757698, 219757709-219757724, 219757733-219757737, 219757743-219757767, 219757771, 219757776-219757792, 219757801, 219757811-219757812, 219757887-219757896, 219757910-219757914, 219757919-219757921
581DES20.917905166312811161413220283242-220283243, 220283254-220283259, 220283263, 220283277-220283278, 220283286-220283288, 220283292, 220283295, 220283324-220283367, 220283415-220283418, 220283421-220283424, 220283428-220283431, 220283436-220283443, 220283570-220283571, 220283581-220283583, 220283588-220283593, 220283597, 220283667, 220283675, 220283682-220283684, 220283696-220283698, 220283704-220283719
582OBSL120.854858548585498265691220416277-220416281, 220416286-220416292, 220416295, 220416301, 220416304-220416315, 220416395-220416396, 220416409, 220416426, 220416432, 220416435-220416437, 220416490, 220416496, 220416872, 220417262, 220417265, 220417274-220417314, 220417347-220417350, 220417373-220417390, 220417395-220417401, 220417592-220417626, 220417739-220417743, 220424093, 220424209-220424212, 220435261-220435264, 220435287-220435954
583PAX320.99143610013175131518223084944, 223161790, 223163270-223163279, 223163287
584COL4A420.9988151658767865064227920749-227920752, 227942707, 227958878
585COL4A320.99421504089368295013228029443-228029458, 228029488, 228029495, 228137728-228137730, 228158014, 228163469, 228163476-228163477, 228163486-228163488, 228163495
586CHRND20.98519948519949231554233390926-233390947, 233390954
587CHRNG20.9942084942084991554233406131-233406135, 233406150-233406153
588SAG20.999178981937611218234243643
589UGT1A120.9993757802746611602234669085
590COL6A320.9947556114957509534238244866-238244873, 238253482, 238280911-238280912, 238283083-238283112, 238283432, 238283441, 238283446-238283451, 238303545
591AGXT20.9940627650551371179241816986-241816992
592D2HGDH20.87867177522351901566242674724-242674727, 242674740, 242674743, 242674772, 242674857-242674882, 242689599-242689605, 242707143-242707154, 242707194-242707240, 242707249-242707253, 242707263-242707264, 242707267-242707272, 242707282-242707357, 242707366, 242707382
593C20orf54200.9943262411347581410745958-745960, 745969-745973
594AVP200.282828282828283554953063276-3063316, 3063326-3063448, 3063623-3063738, 3063749-3063823
595PANK2200.7834208990075937117133869772-3869773, 3869798, 3869812-3869818, 3869869-3869884, 3869902-3869915, 3869918-3869922, 3869932-3869970, 3869977, 3869981-3869986, 3869989, 3869993, 3870005-3870032, 3870073-3870118, 3870124, 3870128-3870134, 3870136, 3870141, 3870144, 3870183-3870375
596PRNP200.9986876640419917624680215
597PROKR2200.99913194444444111525282724
598FERMT1200.99950835791544120346100088
599JAG1200.9824993163795564365710639116, 10654102-10654109, 10654114-10654118, 10654120-10654126, 10654128-10654138, 10654147-10654178
600C20orf7200.9518304431599250103813782193-13782194, 13782230-13782277
601THBD200.91608796296296145172823029283-23029295, 23029308, 23029310, 23029312, 23029331, 23029337-23029339, 23029464-23029470, 23029521-23029531, 23029534, 23029537-23029540, 23029543, 23029554-23029557, 23029570-23029572, 23029576, 23029583-23029584, 23029591, 23029663-23029681, 23029712, 23029715-23029718, 23029730-23029734, 23029738-23029746, 23029759-23029762, 23029767-23029769, 23029775, 23029822-23029831, 23029841-23029849, 23029856-23029861, 23029885-23029888, 23029894-23029897, 23030041, 23030044-23030053
602SNTA1200.8399209486166243151832000423-32000425, 32031171-32031178, 32031195-32031426
603GDF5200.9827357237715826150634021857-34021858, 34022435, 34022442, 34025106-34025109, 34025112-34025123, 34025141-34025145, 34025268
604SAMHD1200.999468367889421188135579877
605HNF4A200.9922807017543911142543058194-43058204
606ADA200.999084249084251109243280232
607CTSA200.9893119572478316149744520233-44520248
608SLC2A10200.9926199261992612162645338376-45338379, 45354890, 45354893-45354899
609SALL4200.9965211891208111316250418838-50418841, 50418850-50418855, 50418858
610VAPB200.92076502732245873256964516-56964573
611GNAS200.99051490514905773857415321-57415326, 57415330
612GNAS200.94091201027617184311457429622-57429658, 57429668-57429696, 57429751, 57429757, 57429760, 57429797-57429808, 57429854, 57429931, 57429944-57429945, 57429974-57429976, 57429984, 57429987-57430002, 57430052, 57430088, 57430094, 57430098, 57430115-57430141, 57430244-57430259, 57430286-57430317
613COL9A3200.93187347931873140205561448417-61448494, 61448926-61448987
614CHRNA4200.93736730360934118188461981228-61981236, 61981239, 61981244-61981251, 61981588-61981616, 61981740-61981744, 61981756, 61987409-61987418, 61987435-61987436, 61987731, 61987735-61987740, 61990939, 61992451-61992452, 61992463, 61992470-61992511
615KCNQ2200.89499809087438275261962038001-62038045, 62038423, 62046434-62046438, 62059753, 62059757-62059759, 62076662-62076665, 62103521-62103562, 62103588-62103734, 62103790-62103816
616SOX18200.15670995670996974115562679523-62679526, 62679539, 62679541, 62679551, 62679556, 62679568, 62679600-62679604, 62679630-62679635, 62679648-62679653, 62679660-62679662, 62679666, 62679709, 62679721-62680111, 62680122-62680315, 62680512-62680869
617APP210.9671422395157876231327423422-27423440, 27542882-27542938
618IFNGR2210.9280078895463573101434775850-34775922
619RCAN1210.6679841897233225275935987059-35987310
620RUNX1210.92376992376992110144336164443, 36164446-36164449, 36164453-36164464, 36164503, 36164514, 36164520-36164523, 36164560-36164561, 36164575-36164610, 36164665-36164671, 36259300-36259306, 36259313-36259321, 36259353-36259370, 36259372, 36259380-36259386
621CSTB210.89562289562293129745196091-45196111, 45196113-45196118, 45196138, 45196148-45196150
622AIRE210.83211233211233275163845705890-45706021, 45707006, 45707012, 45709906, 45712876-45712891, 45712897-45712903, 45712906-45712950, 45712963-45712968, 45712984, 45712989, 45712997-45712999, 45713018-45713024, 45713030-45713033, 45713039, 45713048-45713058, 45713743-45713746, 45714284-45714295, 45714301-45714302, 45714332-45714345, 45714372, 45714375-45714377, 45714384-45714385
623ITGB2210.93722943722944145231046308608-46308616, 46308628-46308711, 46308753-46308797, 46308804-46308810
624COL18A1210.97207977207977147526546875470-46875475, 46875480-46875485, 46876408-46876413, 46876420-46876426, 46876450-46876451, 46876455, 46876560, 46876593, 46876617, 46876644-46876653, 46876659-46876665, 46876707, 46888254, 46906794-46906804, 46906854-46906867, 46911159-46911163, 46913083, 46925048-46925053, 46925332, 46925340, 46929313, 46930032-46930076, 46930088, 46930091-46930095, 46930101, 46930154, 46931136-46931137, 46932175, 46932178
625COL6A1210.94881762228701158308747401765-47401823, 47410174-47410198, 47410304, 47410309-47410319, 47410327-47410332, 47418811-47418815, 47419595-47419597, 47419604-47419606, 47420673-47420681, 47421167-47421172, 47423389, 47423398-47423400, 47423404, 47423421, 47423424-47423432, 47423480-47423486, 47423497-47423498, 47423507-47423511, 47423636
626COL6A2210.96372549019608111306047531489-47531492, 47531972, 47539743-47539764, 47545753-47545758, 47545768-47545775, 47545782-47545783, 47545786, 47545823, 47545833, 47551913-47551922, 47551992, 47552030-47552073, 47552222-47552224, 47552259, 47552273-47552276, 47552326, 47552338
627COL6A2210.906432748538013234247552222-47552224, 47552259, 47552273-47552276, 47552326, 47552338, 47552478-47552498, 47552523
628FTCD210.9717097170971746162647565366, 47565380, 47565419, 47565446, 47565453, 47565491-47565492, 47565732-47565765, 47565842, 47565859-47565860, 47571592, 47571881
629PCNT210.979222854859652081001147744143-47744150, 47744159-47744196, 47783742, 47786610-47786627, 47786675, 47809330, 47809333-47809335, 47817995-47817996, 47822306, 47831384-47831426, 47831443-47831478, 47831701-47831705, 47831722, 47831728-47831735, 47831740, 47831746-47831747, 47831773-47831777, 47831805, 47832885-47832906, 47848355-47848358, 47850143-47850145, 47851837, 47851844, 47858097, 47863843
630PEX26220.99346405228758691818561206-18561207, 18561211, 18561226, 18561233, 18561296
631PRODH220.84692179700499276180318904411, 18905961-18905967, 18908865-18908899, 18923533-18923589, 18923612, 18923626-18923800
632GP1BB220.2624798711755245862119711377-19711381, 19711388-19711390, 19711394, 19711401-19711406, 19711411, 19711425-19711472, 19711483, 19711511-19711522, 19711538-19711918
633TBX1220.35215053763441964148819747170-19747176, 19748428-19748803, 19753334-19753348, 19753425-19753525, 19753912-19754376
634SMARCB1220.9240069084628788115824129357-24129406, 24129412-24129449
635HPS4220.9919507575757617211226849262, 26849273, 26853896-26853897, 26853900-26853905, 26860323-26860329
636CHEK2220.9846678023850127176129083959-29083965, 29085165-29085171, 29091775, 29121313-29121324
637NF2220.9876957494407222178829999988-30000009
638SLC5A1220.999498746867171199532463968
639TIMP3220.960691823899372563633197988, 33198049-33198072
640LARGE220.997357992073986227133712090-33712092, 33712100-33712102
641MYH9220.999150093489725588336681959-36681962, 36688097
642TRIOBP220.97393632009017185709838119742-38119770, 38119798-38119835, 38119891-38119905, 38120031-38120052, 38120150-38120156, 38120193-38120199, 38120300, 38120417-38120450, 38122462, 38129352-38129358, 38129397-38129401, 38153943, 38161760-38161761, 38165152, 38165158, 38165161-38165167, 38165173-38165179
643SOX10220.91363311920057121140138379454, 38379502, 38379505, 38379660-38379767, 38379782-38379791
644EP300220.9975155279503118724541546053-41546054, 41546063-41546066, 41546097-41546103, 41546108, 41546127-41546128, 41546173-41546174
645TNFRSF13C220.5567567567567624655542322147, 42322151, 42322164-42322182, 42322185-42322187, 42322223-42322229, 42322232, 42322235-42322238, 42322252-42322335, 42322642-42322759, 42322770-42322777
646CYB5R3220.976821192052982190643045301-43045321
647ATXN10220.9187675070028116142846067944-46068059
648TRMU220.982622432859422126646731704-46731725
649ALG12220.996591683708255146750307382, 50307402-50307405
650MLC1220.9726631393298131113450502463-50502465, 50502475-50502478, 50502486, 50502490-50502494, 50502604-50502611, 50502618-50502627
651SCO2220.99250936329588680150962533-50962536, 50962543, 50962582
652TYMP220.608005521049568144950964210-50964214, 50964233-50964235, 50964238, 50964241-50964250, 50964255-50964257, 50964260, 50964284-50964347, 50964430-50964552, 50964559-50964570, 50964675-50964881, 50964898-50964905, 50965016-50965034, 50965040-50965072, 50965082-50965159, 50965167
653ARSA220.9888451443569617152451063635, 51063646-51063647, 51063652-51063658, 51063665, 51063672, 51063674, 51063692, 51063836, 51063881, 51066170
654SHANK3220.696987032799391589524451113070-51113132, 51113499, 51113506, 51113579, 51113600, 51113630-51113631, 51117744-51117756, 51135695-51135698, 51135703-51135704, 51135717, 51135951-51136143, 51143192-51143196, 51143509, 51143513, 51158618, 51158623-51158627, 51158635, 51158639, 51158689-51158691, 51158726-51159287, 51159296-51159336, 51159371, 51159376-51159379, 51159418-51159430, 51159433-51159485, 51159496, 51159505, 51159580-51159583, 51159595, 51159606-51159612, 51159632, 51159759, 51159768-51159770, 51159773-51159775, 51159920-51159944, 51159953-51159971, 51160302-51160317, 51160565, 51160783, 51169159, 51169165-51169169, 51169172-51169173, 51169184-51169189, 51169191-51169222, 51169229, 51169232-51169237, 51169263-51169740
655SUMF130.99555555555556511254508760-4508763, 4508771
656FANCD230.9943387681159425441610107165-10107178, 10114937-10114947
657VHL30.920560747663555164210183703-10183705, 10183736-10183740, 10183763-10183805
658WNT7A30.9876190476190513105013921243-13921255
659TGFBR230.996627318718386177930648410-30648413, 30648456-30648457
660GLB130.9626352015732576203433099697, 33138503-33138577
661CRTAP30.65837479270315412120633155578, 33155583-33155608, 33155625-33155627, 33155635-33155698, 33155704-33155929, 33155936-33156015, 33156029-33156040
662ABHD530.955238095238147105043732485-43732531
663TMIE30.795206971677569445946742868-46742873, 46742877-46742880, 46742890-46742945, 46742951-46742969, 46743001, 46743008, 46743012, 46743020, 46743042, 46743055-46743058
664TMIE30.98089171974522947146743001, 46743008, 46743012, 46743020, 46743042, 46743055-46743058
665TREX130.9765765765765826111048508478, 48508888-48508912
666COL7A130.9984153933220114883548612860, 48612864, 48626141, 48627135-48627144, 48632587
667LAMB230.998888271261816539749159707-49159708, 49159732-49159734, 49162726
668GNAT130.9743589743589727105350231231, 50231555-50231557, 50231562, 50231615-50231622, 50232000, 50232213-50232219, 50232222, 50232240-50232244
669HYAL130.999235474006121130850338119
670RFT130.9852398523985224162653156408, 53156413-53156417, 53156420-53156437
671TKT30.94284188034188107187253289852-53289958
672HESX130.9910394265233555857233837-57233839, 57233842, 57233938
673FLNB30.9983352541938813780957994431-57994434, 57994438-57994444, 57994468, 57994475
674PDHB30.99629629629634108058419366-58419368, 58419409
675ATXN730.88548273431994325283863898275-63898599
676MITF30.9936020473448510156369928410-69928412, 69928416-69928422
677PROK230.98205128205128739071834154-71834160
678GBE130.99952584163111210981810634
679PROS130.9950763170851810203193629499-93629501, 93692566, 93692569-93692574
680CPOX30.85714285714286195136598311917-98311918, 98311927, 98311941-98311955, 98312075-98312115, 98312135-98312136, 98312139-98312160, 98312165-98312170, 98312184, 98312191-98312204, 98312210, 98312226-98312278, 98312285-98312321
681CASR30.997837503861673237122003139-122003143, 122003290, 122003606
682ACAD930.999464094319411866128628992
683GP930.9550561797752824534128780599-128780603, 128780608-128780609, 128781019, 128781025, 128781034, 128781042, 128781048-128781060
684RHO30.9971346704871131047129251379-129251380, 129251395
685NPHP330.930879038317052763993132438549-132438589, 132438601-132438632, 132438641-132438646, 132438667-132438672, 132440983, 132441010-132441199
686PCCB30.9975308641975341620136048795-136048797, 136048801
687FOXL230.416445623342186601131138664434-138664446, 138664449-138664461, 138664554-138664569, 138664578-138664582, 138664602-138665035, 138665041-138665103, 138665117-138665162, 138665177, 138665180, 138665186-138665206, 138665213-138665215, 138665344-138665381, 138665521, 138665524-138665525, 138665530, 138665544-138665545
688PLOD230.9995608256477812277145878739
689HPS330.9996683250414613015148847673
690IFT8030.99398625429553142328160099344-160099357
691SOX230.85639412997904137954181430149-181430150, 181430175-181430257, 181430268, 181430271-181430285, 181430310-181430312, 181430431-181430434, 181430539-181430563, 181430594, 181430598, 181430802, 181430805
692ALG330.97949886104784271317183962988-183962992, 183963000-183963006, 183963010, 183963016-183963022, 183966622-183966628
693CLCN230.9944382647386152697184070878-184070882, 184070888-184070889, 184075425-184075432
694CCDC5030.9993098688750911449191047491
695OPA130.9973753280839983048193311175-193311178, 193311181-193311184
696CPN230.99267399267399121638194061905, 194062224-194062230, 194062239-194062242
697PDE6B40.99220272904483202565619544-619548, 657591-657600, 659111-659115
698IDUA40.724770642201835401962980873-980896, 980901-980917, 980932-980946, 980971-980973, 980985-980990, 980999-981002, 981626-981635, 981677, 981736, 996170-996175, 996232-996264, 996270-996273, 996520-996732, 996824-996945, 997133-997210, 997244-997246
699FGFR340.9027606098063523624271795662-1795663, 1795685-1795694, 1795702-1795705, 1795715-1795747, 1801142, 1803094-1803096, 1803118-1803151, 1803365, 1803371, 1803463-1803465, 1803562, 1803593-1803598, 1803631, 1806649-1806653, 1806655-1806666, 1808560-1808563, 1808589-1808602, 1808606, 1808624, 1808850, 1808853-1808854, 1808884, 1808895-1808989
700SH3BP240.9100700053850316718572819951-2820117
701HTT40.9714709937427126994293076553-3076603, 3076604-3076780, 3076790-3076793, 3076796-3076797, 3076800-3076815, 3213752, 3213770-3213775, 3213782-3213786, 3213789, 3213792-3213797
702DOK740.9148514851485112915153465103-3465156, 3465233-3465278, 3478170, 3478203, 3478267, 3494540-3494562, 3494845-3494847
703DOK740.95600676818951265913494540-3494562, 3494845-3494847
704MSX140.701754385964912729124861627-4861877, 4861908-4861909, 4861912, 4861943-4861947, 4861955, 4861961-4861967, 4864509-4864510, 4864515-4864517
705EVC240.98777692895344839275578095-5578096, 5578102-5578105, 5578108-5578110, 5578119-5578127, 5710099-5710108, 5710113, 5710117-5710127, 5710222-5710228, 5710233
706EVC40.9378986236992318529795713108-5713273, 5795412, 5800401, 5800455-5800461, 5806558-5806567
707WFS140.9610924055368510426736302395, 6302916-6302938, 6303172, 6303245, 6303311-6303312, 6303533-6303551, 6303872-6303912, 6303941-6303945, 6303984-6303994
708SLC2A940.99815157116451316239998503-9998505
709QDPR40.949659863945583773517513575-17513584, 17513589-17513593, 17513598, 17513610-17513614, 17513617-17513621, 17513625, 17513631-17513632, 17513646, 17513654-17513655, 17513673-17513677
710CNGA140.9894736842105324228047954623-47954640, 47954669-47954672, 47954680, 47973075
711SGCB40.963427377220483595752895892-52895893, 52904393-52904425
712PDGFRA40.9951070336391416327055127464-55127465, 55127549-55127560, 55127563, 55127566
713KIT40.9938587512794318293155524184-55524190, 55524193-55524195, 55524231-55524237, 55524247
714COQ240.9437229437229465115584188850, 84205758, 84205762-84205769, 84205785-84205786, 84205811-84205815, 84205864-84205867, 84205887-84205906, 84205909, 84205913, 84205932-84205953
715CDS140.9971139971144138685504600-85504602, 85504609
716DMP140.999330655957161149488583996
717PKD240.83832129342965470290788928886-88929352, 88929396-88929398
718SNCA40.966903073286051442390756702-90756708, 90756787-90756793
719MTTP40.9992551210428322685100529986-100529987
720MANBA40.9996212121212112640103682041
721CISD240.9264705882352930408103808512-103808522, 103808569-103808587
722TACR340.9928469241774101398104640740-104640749
723PITX240.998974358974361975111542422
724ANK240.99941047667172711874114161719-114161723, 114274356-114274357
725BBS740.9972067039106162148122782745-122782750
726MFSD840.9993577392421311557128859947
727NR3C240.9969543147208192955149357784-149357792
728CTSO40.9875776397515512966156874869, 156874871-156874872, 156874878, 156874884, 156874887-156874893
729GLRB40.9805890227577291494158041711-158041724, 158041733-158041740, 158041750-158041756
730GK40.97593261131167401662166199345, 166199361, 166199423-166199432, 166199563-166199569, 166199603-166199609, 166200115-166200121, 166200757-166200763
731AGA40.9980787704130621041178355591-178355592
732SLC25A440.87625418060201111897186064527-186064637
733SDHA50.948872180451131021995218473-218474, 218476, 218479-218517, 218523, 218525-218533, 236553-236559, 236646-236681, 240570-240576
734TERT50.9002647837599333933991280358-1280379, 1280428-1280432, 1293440, 1293621, 1294507, 1294570-1294583, 1294602-1294625, 1294642-1294668, 1294670-1294677, 1294679-1294684, 1294686-1294687, 1294696-1294719, 1294726-1294732, 1294749-1294757, 1294766-1294767, 1294886-1294923, 1294933-1294956, 1294981-1295104
735SDHA50.9480122324159173271589426-1589435, 1594522-1594524, 1594529, 1594535, 1594539, 1594541
736NDUFS650.9946666666666723751801532, 1801584
737MTRR50.991276400367311921787900130-7900148
738DNAH550.99473873873874731387513810247, 13810274-13810277, 13810281, 13810291, 13810296-13810304, 13894894, 13916457-13916459, 13916470-13916484, 13916502-13916539
739ANKH50.99729546991214147914871490-14871492, 14871542
740FAM134B50.84939759036145225149416616781-16616874, 16616883-16616887, 16616901, 16616904, 16616908-16616911, 16616935-16616939, 16616950, 16616967-16617080
741AMACR50.9799825935596223114934007888-34007889, 34007933-34007950, 34007986, 34008003-34008004
742NIPBL50.9950089126559742841537048642-37048645, 37048656, 37048667-37048674, 37048757-37048767, 37064057-37064074
743LIFR50.998785670916824329438528936-38528939
744FGF1050.95853269537482662744388711-44388736
745ITGA250.9966159052453512354652285316-52285324, 52285327, 52285335, 52386425
746NDUFAF250.99803921568627151060448658
747SMN250.979661016949151888569362945-69362961, 69372353
748SMN250.980790960451981788570238369-70238385
749HEXB50.9551166965888775167173981117, 73981128-73981131, 73981134-73981145, 73981166, 73981215-73981218, 73981224-73981231, 73981238-73981281, 73981349
750AP3B150.9960426179604313328577563397-77563405, 77563414-77563417
751ARSB50.80524344569288312160278280760-78281071
752RASA150.94942748091603159314486564546, 86564551-86564559, 86564571, 86669980, 86669983-86669994, 86670003-86670137
753GPR9850.99746313619788481892189933595-89933612, 89981739, 90025509-90025515, 90049604, 90103479-90103486, 90124792-90124804
754WDR3650.9982492997198952856110436324, 110441839-110441842
755HSD17B450.9963817277250182211118861711-118861718
756HSD17B450.971631205673768282118861711-118861718
757ALDH7A150.9993827160493811620125930852
758LMNB150.95684270300965761761126113213-126113214, 126113223-126113227, 126113240-126113251, 126113259-126113283, 126113306, 126113380, 126113449-126113455, 126113462-126113478, 126113485-126113490
759FBN250.99794026776519188739127645687, 127704973-127704974, 127873054-127873055, 127873068, 127873115, 127873120, 127873218-127873226, 127873287
760SLC22A550.98626045400239231674131705824-131705830, 131705851-131705856, 131705872, 131705875-131705882, 131705939
761TGFBI50.9775828460039462052135364811-135364848, 135364871-135364878
762MYOT50.99064796259185141497137213234-137213246, 137222912
763SIL150.99567099567161386138282888-138282890, 138283044, 138463510-138463511
764MATR350.9996069182389912544138651825
765DIAPH150.97433883215501983819140909183-140909185, 140953272, 140953373-140953374, 140953386-140953395, 140953452-140953454, 140953499-140953506, 140953518, 140953522-140953545, 140953547, 140953550, 140953561-140953574, 140953577, 140953580-140953601, 140998392, 140998441-140998444, 140998472-140998473
766POU4F350.95870206489676421017145719117-145719158
767ADRB250.9991948470209311242148207633
768SH3TC250.9992242048099333867148407407-148407408, 148407411
769PDE6A50.99070847851336242583149240488-149240511
770TCOF150.9993112947658434356149748407, 149754323, 149754525
771NIPAL450.99000713775874141401156887221-156887234
772NKX2-550.997948717948722975172661890, 172661974
773MSX250.8942786069651785804174151718, 174151732-174151737, 174151740, 174151747, 174151787, 174151795, 174151806, 174151854, 174151861, 174151883-174151922, 174151929-174151959
774NSD150.9990112470646488091176638611-176638618
775F1250.9983766233766231848176830967, 176830970-176830971
776GRM650.825740318906614592634178413438-178413453, 178413678, 178413890, 178416022-178416024, 178416028-178416030, 178416033, 178421445, 178421456-178421471, 178421479-178421480, 178421482-178421487, 178421494-178421495, 178421501, 178421509-178421511, 178421514-178421537, 178421556-178421557, 178421569-178421945
777SQSTM150.845049130763422051323179247937-179248141
778FLT450.95943304007821664092180038354-180038384, 180038473-180038479, 180045780-180045818, 180045911-180045912, 180046024, 180046048-180046055, 180046058, 180046075-180046081, 180046253-180046255, 180046352, 180046358-180046360, 180046363, 180057026-180057029, 180076488-180076545
779FOXC160.4368231046931493616621610740, 1610762, 1610766-1610772, 1610780-1610783, 1610797-1610840, 1610859, 1610862, 1610872-1610873, 1610882-1610893, 1610910, 1610986-1610995, 1611087-1611130, 1611185, 1611189-1611191, 1611202-1611208, 1611217, 1611289-1612058, 1612076-1612100, 1612137
780TUBB2B60.956651718983565813383225254-3225256, 3225292, 3225298-3225305, 3225336, 3225339-3225342, 3225347, 3225400, 3225484-3225496, 3225569-3225591, 3227721-3227723
781DSP60.99779480037141986167542271-7542277, 7563980, 7575685-7575687, 7578023-7578029, 7585558
782TFAP2A60.995433789954346131410398860-10398861, 10404833, 10410407, 10410439, 10410456
783DTNBP160.9602272727272742105615663049, 15663060-15663100
784ATXN160.9595588235294199244816327661-16327668, 16327846-16327852, 16327860-16327897, 16327900-16327905, 16327915-16327953, 16328357
785NHLRC160.9907407407407411118818122506, 18122713-18122721, 18122724
786ALDH5A160.89010321797207181164724495287, 24495291-24495293, 24495297-24495298, 24495304-24495313, 24495332-24495382, 24495389-24495395, 24495402-24495422, 24495431, 24495433-24495439, 24495446-24495474, 24495482-24495487, 24495497-24495502, 24495517-24495543, 24495550-24495558, 24495569
787HLA-H60.873333333333339575029855844, 29855849, 29855856-29855858, 29855862-29855864, 29855873-29855877, 29855888-29855894, 29855899-29855901, 29855975-29856001, 29856277-29856290, 29856300-29856302, 29856330, 29856368, 29856389, 29856397, 29856402, 29856406, 29856593-29856614
788TNXB60.93157076205288132192931976394-31976401, 31976896-31976929, 31977054-31977055, 31977387-31977394, 31977525-31977555, 31977995-31978001, 31978498-31978517, 31978782-31978788, 31979476-31979482, 31979629, 31980130-31980136
789CYP21A260.9529569892473170148832006210-32006234, 32006337, 32006886, 32007787-32007793, 32007846-32007852, 32008183-32008201, 32008448-32008454, 32008728, 32008896, 32008904
790TNXB60.991515437190671081272932009130-32009136, 32009648-32009664, 32009789-32009790, 32010122-32010129, 32010269-32010289, 32010729-32010735, 32011235, 32011248, 32011641-32011647, 32012330-32012336, 32012984-32012990, 32013030-32013036, 32032626-32032631, 32032648-32032649, 32046817, 32063665, 32064129, 32064139-32064140, 32064143, 32064814-32064815
791HLA-DQA160.5169270833333337176832609091-32609316, 32610387-32610407, 32610418-32610541
792HLA-DQB160.3600508905852450378632629124-32629173, 32629193, 32629199, 32629223-32629234, 32629744-32629760, 32629764, 32629785-32629789, 32629798-32629803, 32629816-32629819, 32629843-32629847, 32629859, 32629867, 32629870-32629881, 32629889-32629891, 32629904-32629905, 32629909, 32629955-32629956, 32632575-32632844, 32634276-32634384
793COL11A260.9913644214162345521133139319-33139333, 33140136-33140140, 33140358-33140381, 33141686
794SYNGAP160.89037698412698442403233388042-33388108, 33393575-33393680, 33400554, 33410923, 33410976-33410983, 33411272, 33411275-33411279, 33411425, 33411454-33411698, 33419604-33419605, 33419607-33419609, 33419616, 33419624
795FANCE60.9459962756052187161135420324-35420329, 35420336-35420340, 35420346, 35420355, 35420358-35420365, 35420370, 35420386-35420423, 35420427, 35420501-35420525, 35420557
796TULP160.994475138121559162935480020, 35480023-35480025, 35480028-35480029, 35480033, 35480040-35480041
797MOCS160.9911041339612817191139874421-39874437
798PEX660.9738362215426477294342946466, 42946489-42946493, 42946498, 42946503, 42946509, 42946591-42946596, 42946601-42946607, 42946618-42946620, 42946634-42946636, 42946649, 42946652, 42946657-42946662, 42946700, 42946704-42946706, 42946710, 42946718-42946734, 42946744-42946745, 42946760, 42946768-42946769, 42946784-42946788, 42946794-42946799, 42946802, 42946808-42946809
799CUL760.999803806160491509743008464
800RSPH960.974729241877262183143612875, 43612881, 43612899, 43612904, 43612907, 43612910, 43612919-43612921, 43613010, 43613015, 43613039, 43613049-43613057
801RUNX260.86781609195402207156645390330-45390534, 45399677, 45480059
802MUT60.997336884154466225349403279, 49416574-49416577, 49419348
803PKHD160.99918200408998101222551497430, 51929771-51929777, 51929788, 51929791
804EYS60.9986221515633313943565523361-65523373
805LMBRD160.995070856438698162370506748-70506755
806COL9A160.997107736804058276670981391-70981392, 70981398-70981403
807RIMS160.95215593620791243507972596738, 72596747, 72596769-72596770, 72596773, 72892028-72892055, 72892092, 72892097-72892103, 72892197, 72892254-72892257, 72892266-72892278, 72892293-72892312, 72892321-72892456, 72892488, 72892498, 72892516-72892521, 72892548-72892549, 72945414-72945427, 73108773-73108776
808SLC17A560.9650537634408652148874363516-74363546, 74363548, 74363557-74363562, 74363569, 74363575, 74363590-74363600, 74363609
809NDUFAF460.99810606060606152897339125
810PDSS260.9941666666666771200107780277-107780283
811SEC6360.98817345597897272283108279134-108279135, 108279140, 108279148-108279149, 108279178, 108279193-108279213
812OSTM160.95223880597015481005108395752-108395754, 108395763-108395801, 108395833, 108395840-108395841, 108395847-108395849
813FIG460.999265785609422724110087932-110087933
814RSPH4A60.9995350999535112151116938378
815GJA160.9939077458659771149121768922-121768928
816LAMA260.99700950550037289363129513906-129513907, 129513911-129513917, 129513927-129513934, 129513937-129513945, 129635865, 129670522
817ENPP160.96220302375811052778132129176-132129240, 132129250-132129257, 132129260-132129261, 132171184, 132203487-132203500, 132203503-132203504, 132203516-132203521, 132203531-132203533, 132203558-132203561
818EYA460.9973958333333351920133769274-133769277, 133777729
819AHI160.9997215260373213591135759635
820PEX760.9176954732510380972137143804-137143805, 137143814-137143833, 137143848-137143865, 137143891-137143900, 137143903-137143904, 137143910-137143917, 137143922-137143933, 137167280-137167287
821PLAGL160.999281609195411392144262678
822STX1160.997685185185192864144508255, 144508378
823EPM2A60.72088353413655278996146056334-146056610, 146056628
824IYD60.997701149425292870150719239, 150719257
825SYNE160.998029855270145226394152545790-152545791, 152545795-152545797, 152599270, 152599282-152599283, 152599286-152599290, 152629696, 152630988-152630989, 152650914, 152665278-152665280, 152665284, 152694302-152694310, 152702439-152702445, 152708341-152708348, 152771883-152771889
826PARK260.9992846924177411398161969942
827TBP60.94117647058824601020170871010, 170871025-170871032, 170871039-170871061, 170871064, 170871076-170871102
828LFNG70.6771929824561436811402559496-2559845, 2559860-2559862, 2559875, 2559880, 2559884-2559891, 2565063-2565066, 2566026
829PMS270.993047508690611825896029441-6029444, 6045523-6045529, 6045629-6045635
830TWIST170.4121510673234835860919156417-19156420, 19156511-19156527, 19156554-19156600, 19156619, 19156656-19156944
831DNAH1170.99683171234895431357221583038-21583040, 21583053, 21583184-21583187, 21630912-21630915, 21630920-21630929, 21630936, 21630941, 21630944-21630947, 21778374-21778377, 21778419, 21784164-21784166, 21882308-21882314
832DFNA570.9839034205231424149124742425-24742447, 24758818
833HOXA170.997023809523813100827135317-27135319
834HOXA1370.53727506426735540116727239078-27239118, 27239128-27239162, 27239174, 27239187, 27239193-27239194, 27239217-27239218, 27239221-27239233, 27239252-27239696
835RP970.7717717717717715266633148833-33148984
836GLI370.9730128610584128474342004796, 42005058-42005062, 42005072, 42005086, 42005271-42005272, 42005275, 42005281-42005282, 42005297, 42005483, 42005511-42005547, 42005578-42005580, 42005583, 42005594-42005595, 42005600-42005615, 42005619-42005624, 42005642, 42005648-42005661, 42005672-42005675, 42005678-42005679, 42005683, 42005686-42005689, 42005702-42005705, 42005848-42005854, 42005875-42005876, 42005885, 42012035-42012037, 42012041-42012045
837GCK70.999286224125621140144186110
838CCM270.9767790262172331133545039933-45039962, 45113902
839EGFR70.9727497935590499363355086971-55087058, 55214407, 55214411-55214413, 55220273-55220277, 55220298, 55273065
840ASL70.9784946236559130139565554078-65554079, 65554085, 65554090-65554093, 65554096, 65554148-65554149, 65554152-65554158, 65554263-65554271, 65554317, 65554632, 65557846-65557847
841KCTD770.8344827586206914487066094052-66094195
842NCF170.926682572639941-72639963, 72639983-72639989, 72640033-72640039, 72643704-72643710, 72648672, 72648730-72648750
843ELN70.9710344827586263217573442518-73442558, 73442564-73442578, 73457006-73457011, 73466282
844NCF170.83631713554987192117374193665-74193671, 74197312-74197315, 74202352, 74202410-74202432, 74202948-74202974, 74202987-74203048, 74203383-74203411, 74203432-74203470
845POR70.9735682819383354204375614212, 75614233-75614271, 75614429, 75614445-75614449, 75614462, 75614466, 75614469-75614474
846HSPB170.99190938511327561875932053-75932056, 75932258
847HGF70.995884773662559218781334792, 81399254-81399255, 81399258-81399259, 81399269-81399272
848ABCB470.999479166666672384087037419, 87051492
849AKAP970.9982088024565211172491631247-91631250, 91631300, 91643629-91643642, 91674382, 91714918
850PEX170.998961578400834385292140310, 92148334-92148335, 92157653
851COL1A270.998049256278968410194030914-94030915, 94030918, 94040407, 94055322-94055325
852SGCE70.999262536873161135694285329
853SLC25A1370.998522895125553203195751295-95751297
854TFR270.98295926849543412406100224467-100224469, 100224516-100224518, 100230662, 100230667, 100230670, 100230699, 100230702, 100230706-100230712, 100238644-100238655, 100238665-100238672, 100238680-100238682
855RELN70.99980726606919210377103191617, 103191629
856SLC26A370.9991285403050122295107432352, 107432381
857IFRD170.9941002949852581356112090800-112090802, 112090836, 112102146, 112102149, 112102161, 112102165
858CFTR70.97996848975917894443117188713-117188742, 117188760-117188800, 117188847-117188853, 117235027-117235028, 117235032-117235037, 117235048-117235049, 117235055
859IMPDH170.933888888888891191800128045883, 128049838-128049955
860FLNC70.99205184641722658178128470696-128470733, 128470816-128470836, 128470902, 128477267-128477268, 128488665, 128489032-128489033
861ATP6V0A470.99009116131589252523138394371-138394372, 138394382-138394396, 138394458-138394459, 138394492, 138394498-138394502
862BRAF70.98392003476749372301140624394, 140624399-140624430, 140624497-140624499, 140624502
863PRSS170.8924731182795780744142458434-142458454, 142459625-142459629, 142459664-142459682, 142460313, 142460335, 142460339, 142460366-142460397
864CLCN170.9976407145264672967143042693-143042694, 143042697, 143047489-143047492
865CNTNAP270.99374374374374253996145813982-145813988, 145813994, 145813997-145814012, 147914485
866KCNH270.757183908045988453480150644038-150644044, 150644054-150644063, 150644136-150644137, 150644140-150644142, 150644416-150644424, 150644430-150644432, 150644478-150644479, 150644482-150644487, 150644497, 150644593-150644594, 150644694-150644842, 150644941-150644956, 150645541, 150648600-150648606, 150648886-150648913, 150655154, 150655206-150655522, 150655537-150655541, 150671830-150672029, 150674926-150675001
867PRKAG270.95906432748538701710151329155-151329224
868SHH70.624190064794825221389155595594-155596066, 155596074-155596083, 155596124, 155596127, 155596133, 155596139-155596147, 155596153-155596155, 155596211, 155596309, 155596348-155596369
869MNX170.443615257048096711206156798214-156798220, 156798222-156798224, 156798231-156798245, 156798250-156798251, 156798259, 156798263, 156798269-156798276, 156798283-156798304, 156798314, 156798317, 156798320-156798328, 156798351-156798357, 156798365-156798382, 156798389-156798482, 156798488-156798502, 156799256-156799266, 156799271-156799276, 156799287-156799290, 156802457, 156802508, 156802520-156802523, 156802529-156802549, 156802554, 156802569-156802570, 156802591-156803002, 156803041-156803044
870CLN880.98606271777003128611719521-1719524, 1719527, 1728669-1728673, 1728685-1728686
871MCPH180.99920255183413225086264196-6264197
872GATA480.72234762979684369132911565860-11565862, 11565883-11565889, 11565894-11565902, 11565905-11565907, 11565915, 11565924-11565928, 11566011-11566291, 11566306-11566314, 11566322-11566368, 11566400-11566403
873TUSC380.994269340974216104715397955, 15397976, 15397981-15397984
874ASAH180.9966329966334118817941498-17941500, 17941523
875LPL80.997899159663873142819796952-19796954
876SFTPC80.957912457912462559422020155-22020179
877NEFL80.9803921568627532163224813033-24813036, 24813133-24813138, 24813141-24813143, 24813149-24813151, 24813404-24813406, 24813420-24813421, 24813425-24813426, 24813498-24813504, 24813659, 24813676
878CHRNA280.996226415094346159027320850, 27320853, 27320888, 27321374-27321375, 27321440
879FGFR180.998375964271214246338287396-38287399
880ANK180.9906919564453853569441554207-41554214, 41572574-41572576, 41753898-41753909, 41753912, 41753918-41753927, 41753937-41753946, 41753966-41753967, 41753986-41753991, 41753994
881HGSNAT80.93396226415094126190842995640-42995757, 43025795, 43025816-43025822
882RP180.9976819656930915647155533907-55533919, 55533923-55533924
883CHD780.9974427396041823899461734583-61734603, 61777698, 61777940
884TTPA80.8733572281959410683763998415-63998417, 63998420, 63998426-63998429, 63998439, 63998447-63998455, 63998460, 63998475-63998485, 63998496-63998569, 63998579-63998580
885CYP7B180.9783037475345233152165711062-65711067, 65711070-65711072, 65711083-65711089, 65711110-65711122, 65711125-65711128
886TMEM7080.980842911877391578374888641-74888655
887PEX280.984749455337691491877896101-77896114
888CA280.956577266922093478386376311-86376344
889NBN80.9951434878587211226590960075-90960077, 90960112-90960114, 90996773, 90996776-90996779
890TMEM6780.996987951807239298894777859, 94827577-94827583, 94827589
891GDF680.73099415204678368136897156907-97156909, 97156980, 97156984-97156985, 97157125-97157129, 97157135-97157136, 97157150-97157164, 97157170-97157181, 97157195-97157305, 97157324-97157331, 97157336-97157353, 97157364-97157368, 97157375-97157377, 97157392-97157399, 97157407-97157466, 97157472-97157473, 97157477-97157478, 97157489-97157494, 97157496-97157501, 97157504-97157548, 97157557-97157565, 97157576, 97157579-97157581, 97157594-97157595, 97157600-97157601, 97157612-97157614, 97157631, 97157633, 97157637-97157642, 97157647, 97157652-97157655, 97157660-97157661, 97172668-97172671, 97172677-97172679, 97172682-97172685, 97172904-97172909, 97172914-97172915
892VPS13B80.998332499583122011994100123368-100123375, 100865848-100865850, 100883845-100883851, 100883856-100883857
893DPYS80.94230769230769901560105478910-105478911, 105478923-105478925, 105478939-105478940, 105478953-105478959, 105478974-105478978, 105478985, 105478988-105478990, 105479005-105479011, 105479016-105479018, 105479022-105479063, 105479084-105479089, 105479102, 105479109-105479110, 105479113-105479115, 105479140-105479142
894TNFRSF11B80.9991708126036511206119945289
895KIAA019680.9988505747126443480126091155-126091157, 126091162
896KCNQ380.957999236349751102619133492564-133492591, 133492597-133492617, 133492664, 133492676-133492679, 133492682, 133492725-133492779
897TG80.9979535331648178307133894762-133894769, 133913680-133913683, 133913689-133913690, 133935644-133935646
898NDRG180.9949367088607661185134251198, 134296517-134296521
899SLURP180.993589743589742312143822585, 143822608
900CYP11B180.98346560846561251512143956403, 143956410, 143957128-143957129, 143958513-143958533
901CYP11B280.929894179894181061512143993946-143993994, 143994026-143994032, 143994069-143994081, 143994266, 143994279, 143994702-143994704, 143994721-143994727, 143996539, 143996553, 143998608-143998630
902PLEC80.82177161152615250514055144990528, 144990775-144990782, 144992361-144992363, 144992371-144992389, 144992393-144992400, 144992551-144992552, 144992596-144992603, 144992821-144992822, 144992841-144992850, 144992861-144992862, 144993373-144993382, 144993385-144993387, 144993605-144993616, 144993711, 144993834, 144993865-144993866, 144993944, 144993950, 144993955-144993964, 144993967, 144993982-144993985, 144994061-144994066, 144994069, 144994363-144994364, 144994378-144994380, 144994384, 144994399, 144994402, 144994588-144994601, 144994963-144994969, 144995032-144995037, 144995040-144995042, 144995050-144995058, 144995065, 144995378, 144995392-144995393, 144995464-144995466, 144995680-144995687, 144995691-144995710, 144995713-144995716, 144995783-144995807, 144995814-144995839, 144995899-144995907, 144995940, 144996160-144996166, 144996178-144996181, 144996196-144996209, 144996221-144996253, 144996257-144996268, 144996273, 144996287-144996291, 144996349, 144996367-144996384, 144996401, 144996522-144996559, 144996687-144996749, 144996759-144996798, 144996957, 144996971, 144996992-144997038, 144997077-144997118, 144997209-144997229, 144997253, 144997299-144997306, 144997373-144997393, 144997429-144997430, 144997434-144997436, 144997447-144997451, 144997462-144997480, 144997492-144997500, 144997514-144997552, 144997656-144997660, 144997741, 144997753, 144997756, 144997825-144997918, 144997933-144997934, 144997945-144997949, 144997956-144997973, 144997981, 144997995-144998002, 144998023-144998059, 144998072-144998075, 144998087-144998163, 144998173-144998176, 144998200-144998312, 144998339-144998341, 144998382-144998428, 144998442-144998507, 144998534, 144998538-144998543, 144998558-144998648, 144998675-144998704, 144998712-144998736, 144998756-144998758, 144998764-144998766, 144998809-144998844, 144998854-144998869, 144998880-144998881, 144998894-144998916, 144998926-144998931, 144998938-144998943, 144998953-144999010, 144999044-144999047, 144999050, 144999075-144999087, 144999110-144999120, 144999127, 144999130-144999133, 144999163-144999169, 144999172-144999175, 144999190-144999206, 144999227-144999259, 144999283-144999287, 144999290, 144999293-144999296, 144999314-144999317, 144999337-144999367, 144999373-144999403, 144999443-144999500, 144999525-144999623, 144999658-144999776, 144999813-144999818, 144999821, 144999828, 144999848-144999890, 144999901-144999929, 144999952-144999985, 144999992-144999997, 145000008, 145000012, 145000017-145000018, 145000021-145000043, 145001622, 145001720, 145001732, 145001735-145001742, 145001800-145001802, 145002041-145002045, 145002069-145002072, 145003287-145003317, 145003325-145003330, 145003339-145003340, 145003343, 145003360-145003362, 145003376-145003408, 145003433, 145003437-145003444, 145003589, 145003637, 145003705, 145003814-145003844, 145003853-145003859, 145003951, 145003965, 145003979-145003982, 145004138-145004167, 145004214-145004230, 145004312-145004327, 145004368, 145004372-145004379, 145004386-145004402, 145004406-145004408, 145004642, 145005706-145005727, 145006157-145006159, 145006170, 145006196-145006200, 145006298-145006306, 145006392-145006398, 145006570-145006581, 145006612, 145006617, 145006659-145006675, 145006805-145006816, 145006819, 145006822-145006823, 145007016, 145007020-145007021, 145008167, 145008239-145008259, 145009085, 145009096, 145024547, 145024597-145024625, 145024864
903GPT80.884641180415831721491145730630-145730636, 145730646-145730648, 145730660, 145730816, 145730871-145730872, 145731239-145731242, 145731253-145731310, 145731471, 145731495-145731514, 145731629-145731630, 145731680, 145731683, 145731700-145731710, 145731717-145731718, 145731720-145731722, 145731884-145731890, 145731918, 145731923-145731924, 145731928-145731934, 145732002-145732032, 145732127-145732131, 145732151-145732152
904RECQL480.946236559139781953627145737091-145737094, 145738408, 145738601-145738610, 145738752-145738755, 145738768, 145738777-145738786, 145738810, 145738829, 145738835, 145738958-145739005, 145741721-145741726, 145742798-145742799, 145742802, 145742805, 145742809, 145742812, 145742821-145742823, 145742827, 145742865, 145742868-145742873, 145742879-145742880, 145742986, 145742989, 145743017-145743019, 145743085-145743168
905DOCK890.99031746031746616300214977-215008, 215017-215019, 215029, 371525, 371528, 377130, 382569-382571, 452013-452014, 452026-452033, 452052-452055, 452058-452061, 452065
906VLDLR90.982837528604124526222622190-2622229, 2622242-2622243, 2622257, 2622261-2622262
907KCNV290.9206349206349213016382717968-2718021, 2718336-2718364, 2718392-2718398, 2718405-2718406, 2718462-2718467, 2718474, 2718489-2718490, 2718538-2718539, 2718599, 2718641, 2718717, 2718732-2718734, 2718739-2718740, 2718747-2718752, 2718762-2718769, 2718782, 2718977-2718979, 2718982
908GLIS390.976369495166496627934117808-4117809, 4117834-4117836, 4117853-4117861, 4117942-4117956, 4118033, 4118039-4118048, 4118053, 4118076-4118079, 4118089-4118090, 4118094, 4118102, 4118111, 4118285, 4118303, 4118324-4118332, 4118338-4118339, 4118342, 4118354-4118355
909SLC1A190.9968253968254515754583066-4583067, 4583070-4583072
910JAK290.9991173874669333995077510-5077511, 5077524
911GLDC90.974861247143327730636645377-6645403, 6645432-6645481
912CDKN2A90.974522292993631247121970959-21970962, 21970977, 21970981, 21974772-21974774, 21974780, 21974786, 21974798
913CDKN2A90.977011494252871252221994150, 21994154, 21994215, 21994221-21994225, 21994303, 21994307, 21994370-21994371
914APTX90.99805636540332102932973533, 32973558
915B4GALT190.9532163742690156119733166927, 33167004, 33167086-33167112, 33167118-33167144
916FANCG90.997324772605675186935079199-35079202, 35079496
917TPM290.99883040935673185535682101
918NPR290.9961832061068712314435792516-35792524, 35792758, 35792761, 35808552
919FXN90.932069510268564363371650704-71650723, 71650736, 71650741, 71650752, 71650775-71650778, 71650786-71650793, 71650856-71650863
920TMC190.993429697766115228375369749, 75403386-75403387, 75420381-75420392
921VPS13A90.9967454068241531952579820242, 79843103-79843112, 79934488-79934504, 79983025-79983027
922AUH90.99215686274518102094124035-94124036, 94124098, 94124157-94124160, 94124164
923ROR290.976341807909667283294486008-94486011, 94712161-94712162, 94712177-94712218, 94712227-94712245
924PTCH190.95073664825046214434498209630, 98268689-98268724, 98268768-98268807, 98268874-98268877, 98270469-98270473, 98270475-98270476, 98270483-98270491, 98270497-98270499, 98270509-98270547, 98270554-98270596, 98270602-98270632, 98270643
925FOXE190.311051693404637731122100616204, 100616210-100616284, 100616286-100616290, 100616300-100616316, 100616320-100616335, 100616340, 100616342-100616348, 100616378, 100616381-100616386, 100616394-100616659, 100616691-100616991, 100617001-100617004, 100617017, 100617025, 100617035-100617055, 100617066-100617068, 100617078-100617083, 100617089-100617120, 100617122, 100617126, 100617139-100617144, 100617185
926TGFBR190.93584656084656971512101867488-101867584
927INVS90.9996873045653513198103046754
928ALDOB90.9990867579908711095104192134
929FKTN90.999278499278511386108370205
930MUSK90.9988505747126432610113547807, 113547823-113547824
931DFNB3190.948604992657861402724117186779, 117240859-117240860, 117240879, 117266695-117266702, 117266705, 117266802, 117266805, 117266834-117266840, 117266851, 117266854-117266855, 117266864, 117266874-117266876, 117266879-117266885, 117266928-117266937, 117266943-117266950, 117266960-117266965, 117266969, 117266971-117267031, 117267037-117267054
932GSN90.98169433801618432349124062189-124062198, 124062207, 124062216-124062243, 124062254, 124062258, 124065337, 124065340
933NR5A190.893939393939391471386127245150-127245154, 127245160-127245175, 127262538-127262539, 127262542-127262543, 127265412, 127265439-127265470, 127265478-127265484, 127265495-127265499, 127265573-127265649
934LMX1B90.820375335120642011119129376813-129376814, 129376836-129376844, 129377662-129377750, 129377770-129377772, 129377775-129377776, 129377779-129377780, 129377783-129377819, 129377833-129377834, 129455566-129455576, 129455587-129455592, 129456031, 129456052, 129456056, 129456063-129456066, 129456075-129456080, 129456082, 129458165, 129458177-129458179, 129458182-129458184, 129458216-129458221, 129458232-129458242
935STXBP190.97902869757174381812130374683-130374719, 130416010
936ENG90.98431967627719311977130577975, 130588026-130588028, 130588063-130588065, 130588070, 130588073, 130616589, 130616592-130616610, 130616613-130616614
937TOR1A90.9439439439439456999132586187-132586191, 132586309-132586315, 132586321-132586364
938SETX90.99576798605925348034135139864-135139870, 135139873-135139890, 135139895, 135152527-135152534
939TSC190.9991416309012933495135781491-135781493
940CEL90.801409070893884512271135946012-135946018, 135946374-135946384, 135946592, 135946599, 135946652-135947082
941SURF190.9457364341085349903136223281-136223329
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943DBH90.96925566343042571854136522244-136522249, 136522252, 136522263, 136522277-136522279, 136523485-136523530
944SARDH90.9978237214363462757136535746, 136535749-136535750, 136535764, 136597717-136597718
945COL5A190.978792822185971175517137534034-137534142, 137642723, 137645708, 137703369, 137705855, 137716681-137716683, 137726883
946LHX390.853598014888341771209139089314, 139089354-139089382, 139089556, 139090516, 139090650-139090666, 139090754, 139090765-139090769, 139090776-139090782, 139090793-139090799, 139090802, 139090820-139090833, 139090840, 139090844-139090851, 139090853-139090859, 139090869-139090905, 139094792-139094809, 139094812, 139094815-139094821, 139094845, 139094852-139094859, 139094862, 139094879-139094882
947INPP5E90.838242894056853131935139326296, 139326305, 139327031, 139327034, 139333134-139333164, 139333306-139333312, 139333331-139333360, 139333382-139333397, 139333445, 139333461-139333478, 139333483-139333486, 139333500-139333513, 139333624-139333627, 139333631-139333633, 139333637-139333641, 139333687-139333717, 139333727-139333871
948NOTCH190.972743870631192097668139390986, 139391061, 139391118, 139391174, 139391226, 139391316-139391322, 139391382-139391383, 139391661-139391665, 139391757, 139391760, 139391798-139391806, 139391815-139391820, 139391826-139391833, 139391859-139391881, 139391941-139391943, 139391946-139391948, 139391971, 139391975, 139391989-139391993, 139395093-139395103, 139399210-139399243, 139399264-139399265, 139399278-139399280, 139399400-139399401, 139399527, 139399873, 139399880, 139399961, 139400163, 139400179-139400182, 139400197, 139400201, 139400208-139400210, 139417571, 139417581, 139440178-139440238
949AGPAT290.80406212664277164837139581646-139581809
950SLC34A390.928888888888891281800140127456, 140127667-140127668, 140127720-140127724, 140127727, 140127797, 140127803, 140128144-140128146, 140128149-140128153, 140128160, 140128174, 140128336-140128390, 140128561-140128572, 140128581-140128585, 140128591, 140128604, 140128609-140128611, 140128614, 140128618, 140128624, 140128630-140128632, 140128642-140128646, 140128654-140128659, 140128681-140128684, 140128896, 140130748-140130751, 140130769-140130771, 140130793
951EHMT190.98999230177059393897140513481-140513501, 140729282-140729297, 140729300, 140729336
952SHOXX0.9260523321956865879595530, 605131-605167, 605178-605199, 605267-605271
953KAL1X0.9412628487518412020438699927-8699943, 8699954-8699959, 8699974, 8699982-8700077
954GPR143X0.97568627450983112759733626-9733636, 9733655-9733673, 9733832
955RPS6KA3X0.996851102114267222320284736-20284742
956SMSX0.9718437783832931110121958961-21958991
957ARXX0.79869745411486340168925025293-25025294, 25031274-25031276, 25031299-25031334, 25031343-25031350, 25031360, 25031451, 25031533-25031812, 25031876-25031884
958NR0B1X0.997876857749473141330327184-30327186
959RPGRX0.91673894189072288345938145310-38145315, 38145325, 38145331, 38145339-38145340, 38145343-38145352, 38145359, 38145376-38145632, 38145690, 38145697-38145705
960NYXX0.67219917012448474144641332844-41332937, 41332952-41332966, 41332986-41333192, 41333224-41333280, 41333288-41333294, 41333338-41333342, 41333352-41333378, 41333485-41333546
961SYN1X0.87440982058546266211847433499-47433521, 47433546-47433568, 47433613, 47433629-47433662, 47433682-47433688, 47433692-47433693, 47433697-47433785, 47433811-47433816, 47433825-47433832, 47433855-47433863, 47433903-47433904, 47434088-47434094, 47434102-47434141, 47478829-47478837, 47478847-47478852
962WASX0.9827700463883426150948547187-48547203, 48547216, 48547226-48547233
963SYPX0.988322717622081194249056635-49056645
964ARX0.96127397756062107276366765149-66765164, 66765178-66765216, 66765225, 66766248-66766250, 66766255, 66766353-66766392, 66766398, 66766417-66766422
965EDAX0.9889455782312913117668836197-68836199, 68836356-68836360, 68836372-68836375, 68836389
966DLG3X0.9934800325998416245469665113-69665116, 69665250-69665254, 69665277-69665283
967MED12X0.9909703091521359653470338605, 70338616-70338617, 70338645-70338691, 70360661, 70360690-70360694, 70361112-70361114
968TAF1X0.96832101372756180568270586165-70586344
969SLC16A2X0.93105320304017127184273641350, 73641361-73641391, 73641436-73641490, 73641723-73641758, 73641786, 73641790-73641791, 73641794
970BRWD3X0.998520983545948540980064953-80064956, 80064967-80064970
971PCDH19X0.9939503932244420330699663438-99663439, 99663442, 99663567-99663583
972GPC3X0.98565691336776251743133119391-133119398, 133119460-133119476
973HPRT1X0.9589041095890427657133594342-133594368
974SLC9A6X0.9962013295346682106135067716, 135067970-135067976
975ZIC3X0.97293447293447381404136648985-136648987, 136651103-136651137
976SOX3X0.597315436241615401341139585922-139585961, 139585972-139585978, 139586000-139586099, 139586109-139586115, 139586154-139586513, 139586692-139586708, 139586712, 139586765-139586772
977SLC6A8X0.862683438155142621908152954030-152954291
978ABCD1X0.98972296693476232238153008476, 153008483, 153008675-153008688, 153008981-153008987
979MECP2X0.95858383433534621497153363061-153363122
980FLNAX0.99848942598187127944153599279, 153599294-153599303, 153599325
981IKBKGX0.96584699453552501464153788622-153788630, 153788671-153788674, 153788706-153788742
VariantPhase/
Zygosity
Allele freqImpactEvaluationSummary / Info
5CASP10-I185Rhet unknown0.008Dominant
pathogenic
Moderate clinical importance,
uncertain
No reports for this variant, predicted to be damaging by Polyphen 2. Other damaging variants in this gene are reported to cause autoimmune lymphoproliferative syndrome.
3TGFB1-T263Ihet unknown0.031Dominant
protective
Low clinical importance,
uncertain
Carriers may be less likely to have cleft lip and palate congenital deformity.
2.5AGRP-A67Thet unknown0.032Unknown
pathogenic
Insufficiently evaluatedPrioritization score: 4
Polyphen 2: 0.857 (probably damaging)
2.5SP110-L425Shomozygous0.875Unknown
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.
2.5SP110-G299Rhomozygous0.822Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
2.5SP110-W112Rhomozygous0.945Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
2.5RPGRIP1L-G1025Shet unknown0.171Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
2.5RPGRIP1L-A229Thet unknown0.055Unknown
pathogenic
Low clinical importance,
likely
This variant is generally not considered pathogenic, but when combined with other severe variants it is associated with rare genetic diseases which involve retinal degeneration. Carrying this variant increases the risk of these diseases, but the overall increased risk is very small because the diseases are very rare.
2.5COL4A1-Q1334Hhet unknown0.292Dominant
pathogenic
Low clinical importance,
likely
This common variant has been associated with arterial stiffness and, in Japanese, a small increased risk of myocardial infarction (MI, a.k.a. heart attack). This last observation supported a dominant effect for this variant and, assuming a lifetime risk of 15% for MI, we estimate carriers have an additional risk of 0.5-3%.
2.5COL4A1-T555Phomozygous0.994Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
2.5BRCA2-N372Hhomozygous0.230Recessive
pathogenic
Low clinical importance,
uncertain
This is a common variant of BRCA2 (HapMap allele frequency of 23%). The variant is weakly associated with an increased chance of breast cancer, and zygosity of the variant is associated with sex of children: male children are more likely to be homozygous for this variant, female children are more likely to be heterozygous.
2.5BRCA2-V2466Ahomozygous0.954Dominant
benign
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
2.5RNASEL-D541Ehomozygous0.470Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown, Testable gene in GeneTests
2.5RNASEL-R462Qhomozygous0.208Complex/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.
2CHRNA5-D398Nhomozygous0.158Unknown
pathogenic
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.003 (benign)
2MTRR-I49Mhomozygous0.313Recessive
pathogenic
Low clinical importance,
likely
This common variant (HapMap allele frequency of 31.3%) in a protein involved in folate (B9) and cobalamin (B12) metabolism and is often reported as "MTRR I22M" (an alternative transcript position). Mothers homozygous for this variant are associated with having around a increased chance of a child with Down syndrome (risk of 0.4%, average risk in population is 0.25%). Notably, age plays a far larger role in the rate of Down syndrome (risk is 4.5% for a mother 45-years-of-age), and it is unknown how this variant may combine with the effect of age. There are conflicting reports associating this variant with incidence of neural tube defects, possibly when combined with MTHFR A222V.
2NEFL-S472ShifthomozygousUnknown
Insufficiently evaluatedPrioritization score: 4
Frameshift, Testable gene in GeneTests with associated GeneReview
2SLCO1B1-N130Dhet unknown0.663Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
2SLCO1B1-V174Ahomozygous0.097Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown
2BANK1-R61Hhomozygous0.221Unknown
pathogenic
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown
2BANK1-A383Thomozygous0.233Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: 0.778 (possibly damaging)
2BANK1-C650Rhomozygous0.990Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
1.5NPC1-I858Vhomozygous0.480Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.061 (benign), Testable gene in GeneTests with associated GeneReview
1.5NPC1-H215Rhomozygous0.222Complex/Other
protective
Low clinical importance,
likely
This variant is associated with a reduced risk of obesity, with an additive effect of -0.084 BMI per allele (an average of 0.54 pounds less, per allele, in a 5'6" individual).
1.375SERPINA1-E288Vhet unknown0.047Recessive
pathogenic
Low clinical importance,
well-established
This variant represents the PiS variant in alpha-1-antitrypsin deficiency where a homozygous individual has 60% enzymatic activity. This variant alone is unlikely to much effect, but 3-4% of heterozygotes are compound heterozygous with the more severe PiZ variant, which is associated with an increased risk of emphysema and COPD.
1.375SERPINA1-V237Ahet unknown0.293Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
1.25TP53-P72Rhet unknown0.550Unknown
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.
1.125CFTR-V470Mhet unknown0.621Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
1.125CFTR-S1235Rhet unknown0.008Recessive
pathogenic
Moderate clinical importance,
uncertain
Reported to cause mild dysfunction of the cystic fibrosis gene, it may result in cystic fibrosis when combined with more severe variants.
1SPG7-T503Ahet unknown0.095Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 0.001 (benign), Testable gene in GeneTests with associated GeneReview
1SPG7-R688Qhet unknown0.072Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 0.203 (possibly damaging), Testable gene in GeneTests with associated GeneReview
1CLECL1-P95Shet unknown0.023Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.008 (benign)
1CLECL1-S52Shifthomozygous0.008Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Frameshift
1C12orf60-K65RhomozygousUnknown
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
1C12orf60-N103KhomozygousUnknown
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
1C12orf60-M184ShifthomozygousUnknown
Insufficiently evaluatedPrioritization score: 2
Frameshift
1KCP-G550GGhet unknownUnknown
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
1KCP-H313ShifthomozygousUnknown
Insufficiently evaluatedPrioritization score: 2
Frameshift
1CYP1B1-V432Lhomozygous0.547Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
1CYP1B1-R48Ghomozygous0.360Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
1ZNF480-C3ShifthomozygousUnknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Frameshift
1ZNF480-P177Shet unknown0.161Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.486 (possibly damaging)
1ZNF880-N106ShifthomozygousUnknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Frameshift
1ZNF880-N140NNhomozygousUnknown
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
1ZNF880-R198Shomozygous0.354Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
1ZNF880-N202Hhomozygous0.292Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
1ZNF880-Q406Rhet unknownUnknown
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
1ZNF880-K471Rhomozygous0.328Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
1ZNF761-L47ShifthomozygousUnknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Frameshift
1ZNF761-I122Shet unknownUnknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
1ZNF761-V168IhomozygousUnknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
1ZNF761-G528Shet unknownUnknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
1ZNF761-E603Qhet unknownUnknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
1SLC41A3-L501Shifthomozygous0.008Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Frameshift
1SLC41A3-T62Ahomozygous0.982Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
1ATG9B-A765ShifthomozygousUnknown
Insufficiently evaluatedPrioritization score: 2
Frameshift
1HADHB-T2TThomozygous0.008Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
1ADH1B-H48Rhomozygous0.678Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown
1ANKK1-A239Thet unknown0.320Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: 0.852 (probably damaging)
1ANKK1-G318Rhet unknown0.165Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.006 (benign)
1ANKK1-G442Rhomozygous0.541Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
1ANKK1-H490Rhet unknown0.210Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.001 (benign)
1ANKK1-E713Khet unknown0.347Unknown
pathogenic
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown
1TNXB-R48PhomozygousUnknown
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
1TTN-R32018HhomozygousUnknown
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
1TTN-R29962HhomozygousUnknown
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
1TTN-I26820ThomozygousUnknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
1TTN-I25199VhomozygousUnknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
1TTN-T24045MhomozygousUnknown
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
1TTN-R22371ChomozygousUnknown
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
1TTN-A19840PhomozygousUnknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
1TTN-V19783IhomozygousUnknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
1TTN-T18827IhomozygousUnknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
1TTN-P17286LhomozygousUnknown
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
1TTN-R16903HhomozygousUnknown
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
1TTN-N16125Dhomozygous0.469Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
1TTN-I9278Vhomozygous0.450Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
1TTN-N7559Shet unknown0.231Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
1TTN-S7181Nhet unknown0.232Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
1TTN-A7111Ehet unknown0.421Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
1TTN-E6900Ahet unknown0.226Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
1TTN-D6218Hhet unknown0.233Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
1TTN-S3419Nhomozygous0.850Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
1TTN-V3261Mhomozygous0.840Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
1TTN-S1295Lhomozygous0.881Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
1TTN-K1201Ehomozygous0.519Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
1NEB-I6534Vhet unknown0.372Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
1NEB-A6277Phomozygous0.691Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
1NEB-D5018Vhet unknown0.089Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
1NEB-R4389Thomozygous0.724Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
1NEB-S3875Thomozygous0.053Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
1NEB-W3348Chet unknownUnknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
1NEB-S2912Phet unknown0.526Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
1NEB-V1491Mhet unknown0.453Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
1NEB-V1479Ihet unknown0.422Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
1NEB-Y1301Hhet unknown0.668Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
1NEB-K1027Nhet unknown0.476Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
1AIM1-Q293Phet unknown0.181Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
1AIM1-E1196Ahomozygous0.935Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.015 (benign)
1AIM1-C1395Yhet unknown0.243Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: 0.958 (probably damaging)
1TGIF1-P83Shifthet unknown0.139Complex/Other
pathogenic
Low clinical importance,
uncertain
Severe variants in this gene are associated with holoprosencephaly disorders when combined with loss-of-function variants in SHH. Haploinsufficiency was identified in some families with this condition. It is unclear how likely this variant is to occur in combination with an SHH variant, or what phenotypic effect the variant would have on its own.
1BLMH-I443Vhet unknown0.241Unknown
pathogenic
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown
1ZNF167-N494ShifthomozygousUnknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Frameshift
1ADD1-G460Whet unknown0.232Unknown
pathogenic
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 0.995 (probably damaging)
1ADD1-S617Chet unknown0.334Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
1AP1S2-T35AhomozygousUnknown
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
1AP1S2-R29PhomozygousUnknown
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
1CUL7-Q813RhomozygousUnknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
1TF-G277Shet unknown0.030Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 4
Polyphen 2: 0.999 (probably damaging)
1TF-I448Vhomozygous0.985Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
1CCDC66-D5ShifthomozygousUnknown
Insufficiently evaluatedPrioritization score: 2
Frameshift
1CCDC66-Q383Rhomozygous0.934Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
1CCDC66-R460Qhet unknown0.206Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: 0.999 (probably damaging)
1CCDC66-S606SShet unknownUnknown
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
1NR_028064-G139ShifthomozygousUnknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Frameshift
1NR_028064-H49QhomozygousUnknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
1RSPH4A-R244Hhet unknown0.016Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 4
Polyphen 2: 1.0 (probably damaging), Testable gene in GeneTests with associated GeneReview
1RSPH4A-R556Hhet unknown0.203Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 1.0 (probably damaging), Testable gene in GeneTests with associated GeneReview
1RSPH4A-L589Phet unknown0.707Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
1CILP-G1166Shomozygous0.766Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
1CILP-Q979Rhomozygous0.986Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
1CILP-K575Ehomozygous0.974Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
1CILP-I395Thet unknown0.491Unknown
pathogenic
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown
1HSH2D-S223Shifthomozygous0.016Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Frameshift
1FRZB-R200Whet unknown0.045Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 4
Polyphen 2: 0.999 (probably damaging)
1PDHA2-R286Phomozygous0.023Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 1.0 (probably damaging)
1ICAM1-K469Ehomozygous0.297Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown
1CELA1-Q243Rhet unknown0.086Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
1CELA1-L210Shifthet unknown0.156Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Frameshift
1CELA1-M59Vhet unknown0.142Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.24 (possibly damaging)
1CELA1-R44Whet unknown0.262Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
1CELA1-Q10Hhet unknown0.078Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.463 (possibly damaging)
1CELA1-Y5PhomozygousUnknown
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
1CELA1-V3ShifthomozygousUnknown
Insufficiently evaluatedPrioritization score: 2
Frameshift
1SEBOX-L207Shomozygous0.913Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
1SEBOX-W10ShifthomozygousUnknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Frameshift
1CD226-S307Ghomozygous0.423Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown
1C14orf104-D768GhomozygousUnknown
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
1PIK3R6-L609ShifthomozygousUnknown
Insufficiently evaluatedPrioritization score: 2
Frameshift
1VSIG10L-Q860ShifthomozygousUnknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Frameshift
1VSIG10L-R592Qhet unknownUnknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
1VSIG10L-M356Ihet unknownUnknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
1VSIG10L-N3Thet unknownUnknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
1KRTAP7-1-Y17ShifthomozygousUnknown
Insufficiently evaluatedPrioritization score: 2
Frameshift
1GPR98-L1093Fhomozygous0.835Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
1GPR98-V1951Ihomozygous0.820Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
1GPR98-P1987Lhet unknown0.333Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.366 (possibly damaging), Testable gene in GeneTests with associated GeneReview
1GPR98-L2004Fhet unknown0.341Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.841 (possibly damaging), Testable gene in GeneTests with associated GeneReview
1GPR98-R2097Chet unknown0.025Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 4
Polyphen 2: 0.999 (probably damaging), Testable gene in GeneTests with associated GeneReview
1GPR98-Y2232Chet unknown0.349Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 0.989 (probably damaging), Testable gene in GeneTests with associated GeneReview
1GPR98-N2345Shet unknown0.304Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 0.999 (probably damaging), Testable gene in GeneTests with associated GeneReview
1GPR98-N2584Shomozygous0.825Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
1GPR98-E3471Khomozygous0.834Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
1GPR98-E3867Khet unknown0.356Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
1GPR98-E5203Ghet unknown0.008Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
1GPR98-E5344Ghomozygous0.903Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.003 (benign), Testable gene in GeneTests with associated GeneReview
1GPR98-V5427Mhomozygous0.918Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
1GPR98-V5876Ihet unknown0.424Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 0.94 (probably damaging), Testable gene in GeneTests with associated GeneReview
1PCSK1-S690Thet unknown0.218Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.061 (benign), Testable gene in GeneTests
1PCSK1-Q665Ehet unknown0.238Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
1PCSK1-N221Dhet unknown0.020Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 0.006 (benign), Testable gene in GeneTests
1NR_027127-W61*homozygousUnknown
Insufficiently evaluatedPrioritization score: 2
Nonsense mutation
1BC112980-K147ShifthomozygousUnknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Frameshift
1COL18A1-A288Thomozygous0.177Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: 0.017 (benign), Testable gene in GeneTests
1COL18A1-T379Mhomozygous0.325Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.969 (probably damaging), Testable gene in GeneTests
1COL18A1-PGP1362DelhomozygousUnknown
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
1DGKK-D1111Nhomozygous0.145Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
1DGKK-S1062Nhomozygous0.011Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
1DGKK-L1014ShifthomozygousUnknown
Insufficiently evaluatedPrioritization score: 2
Frameshift
1WAS-H180Nhomozygous0.011Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 0.386 (possibly damaging), Testable gene in GeneTests with associated GeneReview
1ALG6-S306FhomozygousUnknown
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
1NPRL3-L489Shifthomozygous0.048Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Frameshift
1CHIT1-G102Shet unknown0.268Unknown
pathogenic
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 0.057 (benign), Testable gene in GeneTests
1IL13-Q144Rhomozygous0.766Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown
1SLC22A4-I306Thomozygous0.588Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.001 (benign)
1SLC22A4-L503Fhomozygous0.142Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown
1ARSA-T391Shet unknown0.423Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
1ARSA-N350Shet unknown0.241Unknown
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.
1ARSA-W193Chet unknown0.024Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 4
Polyphen 2: 0.997 (probably damaging), Testable gene in GeneTests with associated GeneReview
1FUCA1-R2Whomozygous0.079Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.928 (probably damaging), Testable gene in GeneTests
1SEPN1-C108Yhomozygous0.789Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
1SEPN1-N467KhomozygousUnknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
1FAM9B-H101Yhomozygous0.011Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.927 (probably damaging)
1C5orf20-R117*homozygousUnknown
Insufficiently evaluatedPrioritization score: 2
Nonsense mutation
1C5orf20-N97DhomozygousUnknown
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
1C5orf20-T75PhomozygousUnknown
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
1PADI6-R207Qhet unknown0.039Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
1PADI6-V343Shifthomozygous0.016Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Frameshift
1ADRB2-G16Rhet unknown0.477Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.001 (benign), Testable gene in GeneTests
1ADRB2-E27Qhomozygous0.773Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.001 (benign), Testable gene in GeneTests
1HRNR-H2772Rhet unknown0.516Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
1HRNR-L2770Phet unknown0.532Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
1HRNR-A2764Shet unknown0.559Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
1HRNR-H2762Qhet unknown0.569Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
1HRNR-R2761Qhet unknown0.600Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
1HRNR-G2758Shet unknown0.578Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
1HRNR-HR2748QHhet unknownUnknown
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
1HRNR-Y2746Hhet unknownUnknown
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
1HRNR-L2688Shomozygous0.939Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
1HRNR-C1414Yhomozygous1.000Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
1HRNR-S799Thet unknown0.569Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
1HRNR-R664Qhet unknown0.568Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
1HRNR-Q519Phet unknown0.067Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
1HRNR-Y517Chet unknown0.185Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
1HRNR-G492Rhet unknown0.588Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
1HRNR-E473Ghomozygous0.951Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
1HRNR-Q376Rhomozygous1.000Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
1HRNR-R85Hhet unknown0.553Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.078 (benign)
1HRNR-M1ShifthomozygousUnknown
Insufficiently evaluatedPrioritization score: 2
Frameshift
1FLG-G3846Shet unknown0.008Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
1FLG-R3530Shet unknown0.009Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 4
Polyphen 2: 0.999 (probably damaging), Testable gene in GeneTests with associated GeneReview
1FLG-D2936Ghet unknown0.138Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
1FLG-H2507Qhet unknown0.318Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.002 (benign), Testable gene in GeneTests with associated GeneReview
1FLG-L2481Shet unknown0.222Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.003 (benign), Testable gene in GeneTests with associated GeneReview
1FLG-K2444Ehet unknown0.188Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.002 (benign), Testable gene in GeneTests with associated GeneReview
1FLG-A2427Shet unknown0.008Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.011 (benign), Testable gene in GeneTests with associated GeneReview
1FLG-S2366Thet unknown0.125Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 0.967 (probably damaging), Testable gene in GeneTests with associated GeneReview
1FLG-Y2119Hhet unknown0.119Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
1FLG-R1699Chet unknown0.428Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
1FLG-R1684Hhet unknown0.190Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
1FLG-S1482Yhet unknown0.243Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
1FLG-R1376Ghet unknown0.170Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
1FLG-R1360Hhet unknown0.164Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
1FLG-A1167Ghet unknown0.425Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
1FLG-E755Khet unknown0.155Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
1FLG-P478Shet unknown0.318Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.001 (benign), Testable gene in GeneTests with associated GeneReview
1FLG-G444Rhet unknown0.319Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 0.991 (probably damaging), Testable gene in GeneTests with associated GeneReview
1FLG-G332Vhet unknown0.227Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 0.995 (probably damaging), Testable gene in GeneTests with associated GeneReview
1OPN1MW-M153Lhomozygous0.015Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.031 (benign), Testable gene in GeneTests with associated GeneReview
1EDN1-K198Nhet unknown0.235Unknown
pathogenic
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.002 (benign)
1F5-M1764Vhet unknown0.273Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
1F5-K925Ehet unknown0.196Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
1F5-H865Rhet unknown0.238Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
1F5-K858Rhet unknown0.239Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
1F5-Q534Rhomozygous0.991Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
1USP9Y-E65DhomozygousUnknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.011 (benign), Testable gene in GeneTests with associated GeneReview
1GPR56-S281Rhomozygous0.750Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
1GPR56-Q306Hhomozygous0.094Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
1MS4A14-I56ShifthomozygousUnknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Frameshift
1MS4A14-N177Yhomozygous0.543Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: 0.981 (probably damaging)
1MS4A14-G584Rhomozygous0.513Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.003 (benign)
1PLEKHA2-P389Shifthomozygous0.032Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Frameshift
1MBNL3-I220Vhomozygous0.011Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.85 (probably damaging)
1FAM83H-G902Ehomozygous0.023Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.913 (probably damaging)
1FAM83H-Q201Hhomozygous1.000Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
1RECQL4-V1020Mhomozygous0.016Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
1RECQL4-R522Hhomozygous0.058Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
1RECQL4-S92Phomozygous1.000Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
1TCEAL6-Q175Shifthomozygous0.022Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Frameshift
1H2BFM-Q73*homozygousUnknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Nonsense mutation
1PTPN22-W620Rhomozygous0.970Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown
0.75MTHFR-E429Ahet unknown0.243Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.099 (benign), Testable gene in GeneTests
0.75MTHFR-A222Vhet unknown0.250Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 4
Polyphen 2: 0.858 (probably damaging), Testable gene in GeneTests
0.75KCNJ11-V337Ihet unknown0.761Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.75KCNJ11-K23Ehet unknown0.711Unknown
protective
Low clinical importance,
likely
This variant is associated with decreased risk of type 2 diabetes. It is unclear whether this variant has additive effects, or acts in a dominant or recessive manner. Assuming diabetes has a lifetime risk of 36%, we estimate a decreased risk of around 1-2% per copy of this variant.
0.5SLC39A7-G124Rhet unknown0.047Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.961 (probably damaging)
0.5TTBK1-P649Rhet unknown0.008Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.865 (probably damaging)
0.5DNAH8-I2563Thet unknown0.016Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.967 (probably damaging)
0.5DNAH8-I4271Vhet unknown0.120Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5PEX6-P939Qhomozygous0.339Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5SPINK5-Q267Rhet unknown0.475Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown, Testable gene in GeneTests
0.5SPINK5-R268Chet unknown0.016Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.5SPINK5-A335Vhet unknown0.381Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown, Testable gene in GeneTests
0.5SPINK5-S368Nhet unknown0.363Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown, Testable gene in GeneTests
0.5SPINK5-K420Ehet unknown0.380Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown, Testable gene in GeneTests
0.5SPINK5-R711Qhet unknown0.469Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown, Testable gene in GeneTests
0.5TULP1-K261Nhomozygous0.805Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5TULP1-I259Thet unknown0.344Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5TULP1-T67Rhomozygous0.877Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5BTNL2-S360Ghet unknown0.332Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5BTNL2-K196Ehet unknown0.343Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5BTNL2-D118Nhet unknown0.031Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.992 (probably damaging)
0.5COL11A2-P1722Lhet unknown0.023Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5TNXB-K3015Rhet unknown0.016Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5TNXB-R2597Qhet unknown0.157Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5TNXB-G2518Ehomozygous0.658Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5TNXB-G2495Shet unknown0.153Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5TNXB-V2127Mhet unknown0.141Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5TNXB-H1161Rhomozygous0.568Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5TNXB-S921Ahet unknown0.173Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5TNXB-R650Hhet unknown0.078Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5TNXB-R511Hhet unknown0.181Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5TNXB-V203Mhet unknown0.078Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5NRSN1-H104Yhet unknown0.023Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.899 (probably damaging)
0.5AGER-R77Chet unknown0.008Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.99 (probably damaging)
0.5CMAH-V478Ahet unknown0.836Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5CMAH-R310Phet unknown0.078Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5CMAH-N272Shifthet unknown0.023Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Frameshift
0.5CMAH-R241Whet unknown0.078Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5CMAH-I181Thet unknown0.078Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5CMAH-G131Shet unknown0.031Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
0.5HSPA1L-E602Khet unknown0.225Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: 0.001 (benign)
0.5HSPA1L-T493Mhomozygous0.868Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: 0.001 (benign)
0.5HLA-L-I30Vhet unknownUnknown
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
0.5HLA-L-R38Shifthet unknownUnknown
Insufficiently evaluatedPrioritization score: 2
Frameshift
0.5HLA-L-A142Vhet unknownUnknown
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
0.5HLA-L-W144*het unknownUnknown
Insufficiently evaluatedPrioritization score: 2
Nonsense mutation
0.5HLA-L-C172Yhet unknownUnknown
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
0.5HLA-H-S182Whet unknown0.392Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5HLA-H-C238Shomozygous0.729Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5MDC1-D1855Ehet unknown0.008Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.014 (benign)
0.5MDC1-V1791Ehet unknown0.008Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.034 (benign)
0.5MDC1-P1745Rhet unknown0.008Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.987 (probably damaging)
0.5MDC1-P1283Thet unknown0.031Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: 0.766 (possibly damaging)
0.5MDC1-Y1266Shet unknown0.070Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5MDC1-P1259Shet unknown0.008Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.019 (benign)
0.5MDC1-S1112Fhet unknown0.008Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.995 (probably damaging)
0.5MDC1-P1100Ahet unknown0.008Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.854 (probably damaging)
0.5MDC1-R179Chet unknown0.025Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
0.5MICA-Y59Chet unknown0.293Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5MICA-E196Khet unknown0.363Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5MICA-G198Shet unknown0.337Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5MICA-I236Thomozygous0.570Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5MICA-T238Shet unknownUnknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
0.5MICA-R274Qhomozygous0.538Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
0.5MICA-C329Rhet unknown0.206Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5MICA-P330Lhet unknown0.262Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5HUS1B-D268Yhomozygous0.693Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5HUS1B-S213Whet unknown0.008Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.961 (probably damaging)
0.5HUS1B-Q212Ghet unknown0.008Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
0.5ZNF354C-Y524Chet unknown0.016Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.979 (probably damaging)
0.5ZNF354C-F546Lhomozygous0.761Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5ZNF354C-E553Khomozygous0.761Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.057 (benign)
0.5TCOF1-A1353Vhomozygous0.194Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5SLC26A2-I574Thomozygous0.994Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5HLA-DQB1-G157Ahomozygous0.539Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5FAT2-Q3953Hhet unknown0.038Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.001 (benign)
0.5FAT2-M3631Ihet unknown0.752Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.129 (benign)
0.5FAT2-F2428Shomozygous1.000Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5FAT2-Y1181Hhomozygous1.000Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5FAT2-P1164Lhomozygous0.361Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.005 (benign)
0.5FAT2-G1004Shomozygous0.400Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5FAT2-F686Shomozygous0.420Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5FAT2-R574Chomozygous0.416Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: 0.967 (probably damaging)
0.5FAT2-V444Ahet unknown0.031Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.968 (probably damaging)
0.5HLA-DQA1-L8Mhomozygous0.457Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5HLA-DQA1-Q152Hhomozygous0.526Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5HLA-DQA1-Q198Ehomozygous0.362Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5PROP1-N20Shomozygous1.000Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5NSD1-A691Thet unknown0.017Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.006 (benign), Testable gene in GeneTests with associated GeneReview
0.5NSD1-S726Phet unknown0.231Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 0.92 (probably damaging), Testable gene in GeneTests with associated GeneReview
0.5NSD1-A1036Phet unknown0.055Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.004 (benign), Testable gene in GeneTests with associated GeneReview
0.5NSD1-M2250Ihet unknown0.061Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.168 (benign), Testable gene in GeneTests with associated GeneReview
0.5NSD1-M2261Thet unknown0.064Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.001 (benign), Testable gene in GeneTests with associated GeneReview
0.5NIPAL4-R213Ghomozygous0.505Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.001 (benign), Testable gene in GeneTests with associated GeneReview
0.5GPSM3-H47Dhet unknown0.008Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.981 (probably damaging)
0.5GARS-P42Ahomozygous0.654Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5PLA2G7-V379Ahomozygous0.721Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.816 (possibly damaging)
0.5PLA2G7-I198Thomozygous0.162Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.001 (benign)
0.5DOCK8-A22Vhomozygous0.291Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: 0.009 (benign), Testable gene in GeneTests
0.5DOCK8-P97Thet unknown0.512Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.961 (probably damaging), Testable gene in GeneTests
0.5DOCK8-N413Shet unknown0.193Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: 0.19 (benign), Testable gene in GeneTests
0.5DOCK8-R1154Chet unknownUnknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 0.998 (probably damaging), Testable gene in GeneTests
0.5EXOSC3-Y225Hhet unknown0.047Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.923 (probably damaging)
0.5TMC1-D308Ahet unknown0.008Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.5PTCH1-P1315Lhomozygous0.401Unknown
benign
Low clinical importance,
uncertain
Common polymorphism, presumed benign.
0.5PTCH1-P1282Lhet unknown0.016Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.025 (benign), Testable gene in GeneTests with associated GeneReview
0.5ROR2-T245Ahomozygous0.619Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5VPS13B-S3117Ghet unknownUnknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5VPS13B-G3407Rhet unknown0.116Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5CNBD1-P2Lhet unknown0.008Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.972 (probably damaging)
0.5MCPH1-R171Shomozygous0.865Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5MCPH1-R304Ihet unknown0.075Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 0.999 (probably damaging), Testable gene in GeneTests with associated GeneReview
0.5MCPH1-D314Hhet unknown0.648Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.136 (benign), Testable gene in GeneTests with associated GeneReview
0.5MCPH1-D392Ghomozygous0.979Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5MCPH1-T682Nhet unknown0.148Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 0.993 (probably damaging), Testable gene in GeneTests with associated GeneReview
0.5NAT2-I114Thet unknown0.220Recessive
pharmacogenetic
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown
0.5NAT2-R197Qhet unknown0.272Recessive
pharmacogenetic
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown
0.5NAT2-R268Khet unknown0.675Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
0.5SLC18A1-L392Vhet unknown0.043Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.993 (probably damaging)
0.5SLC18A1-I136Thomozygous0.788Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5SLC18A1-T4Phet unknown0.249Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5CNGB3-E755Ghet unknown0.062Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.11 (benign), Testable gene in GeneTests with associated GeneReview
0.5CNGB3-I307Vhet unknown0.062Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.001 (benign), Testable gene in GeneTests with associated GeneReview
0.5CNGB3-T298Phet unknown0.681Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.007 (benign), Testable gene in GeneTests with associated GeneReview
0.5CNGB3-C234Whomozygous0.939Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5PEX2-C184Rhomozygous0.990Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5BAAT-R201Phet unknown0.160Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown, Testable gene in GeneTests
0.5BAAT-V137Ihet unknown0.016Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.661 (possibly damaging), Testable gene in GeneTests
0.5BAAT-R20Qhet unknown0.569Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: 0.136 (benign), Testable gene in GeneTests
0.5ABCA1-K1587Rhet unknown0.486Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown, Testable gene in GeneTests
0.5ABCA1-I883Mhet unknown0.427Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown, Testable gene in GeneTests
0.5ABCA1-R219Khet unknown0.498Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests
0.5PTF1A-S263Phomozygous0.654Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.981 (probably damaging), Testable gene in GeneTests
0.5MYO3A-R319Hhomozygous0.376Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown, Testable gene in GeneTests
0.5MYO3A-I348Vhomozygous0.678Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown, Testable gene in GeneTests
0.5MYO3A-V369Ihomozygous0.642Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown, Testable gene in GeneTests
0.5MYO3A-A833Shet unknown0.049Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 0.997 (probably damaging), Testable gene in GeneTests
0.5MYO3A-S956Nhomozygous0.443Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown, Testable gene in GeneTests
0.5MYO3A-T1284Shomozygous0.406Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: 0.002 (benign), Testable gene in GeneTests
0.5MYO3A-R1313Shomozygous0.620Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown, Testable gene in GeneTests
0.5PTCHD3-*768Qhet unknown0.570Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5PTCHD3-R630Qhet unknown0.016Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.874 (probably damaging)
0.5PTCHD3-I584Mhomozygous0.963Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5PTCHD3-M521Thet unknown0.498Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5PTCHD3-D473Ghet unknown0.499Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.849 (possibly damaging)
0.5PTCHD3-C407Ghet unknown0.490Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: 1.0 (probably damaging)
0.5PTCHD3-S309Shifthet unknown0.016Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Frameshift
0.5CHAT-A120Thet unknown0.149Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.013 (benign), Testable gene in GeneTests with associated GeneReview
0.5CHAT-V461Mhomozygous0.927Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5PPYR1-A99Shet unknown0.244Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.03 (benign)
0.5PPYR1-V276Mhet unknownUnknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.889 (probably damaging)
0.5RNF207-N573Shet unknown0.474Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5RNF207-G603Ahet unknown0.165Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.006 (benign)
0.5OLAH-A219Phet unknown0.023Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.871 (probably damaging)
0.5DFNB31-V783Ahomozygous0.405Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5DFNB31-H752Qhomozygous0.983Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5DFNB31-M613Thomozygous0.487Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5DFNB31-R364Hhomozygous0.968Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5SVEP1-F3161Ihet unknown0.114Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.675 (possibly damaging)
0.5SVEP1-A2750Vhet unknown0.441Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5SVEP1-D2702Ghet unknown0.031Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.997 (probably damaging)
0.5SVEP1-S1846Thet unknown0.039Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: 0.305 (possibly damaging)
0.5SVEP1-L1648Vhet unknown0.182Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5SVEP1-M1444Lhet unknown0.352Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.001 (benign)
0.5SVEP1-I1157Vhet unknown0.178Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: 0.907 (probably damaging)
0.5SVEP1-Q581Hhet unknown0.119Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: 0.995 (probably damaging)
0.5SVEP1-G332Ahet unknown0.108Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.004 (benign)
0.5CDK5RAP2-V1540Lhomozygous0.714Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5CDK5RAP2-E289Qhet unknown0.801Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5AK131516-R31*het unknown0.039Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Nonsense mutation
0.5AKR1C2-H53Shifthet unknown0.008Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Frameshift
0.5SETX-I2587Vhet unknown0.591Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5SETX-T1855Ahet unknown0.508Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5SETX-I1386Vhet unknown0.494Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5SETX-Q1276Ehet unknown0.016Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5SETX-G1252Rhet unknown0.494Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5SETX-D1192Ehet unknown0.598Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5AX747124-C9Yhomozygous0.977Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5AX747124-C51Shifthet unknown0.039Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Frameshift
0.5AX747124-R83Chet unknownUnknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
0.5AX747124-K103Thet unknown0.039Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
0.5NOS3-D298Ehomozygous0.844Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
0.5BCLAF1-T888Nhet unknown0.270Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.31 (possibly damaging)
0.5BCLAF1-S209Chet unknown0.004Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.96 (probably damaging)
0.5BCLAF1-G66Ahet unknown0.500Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5BCLAF1-R45Mhet unknown0.040Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
0.5SHPRH-S969Chet unknown0.017Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.871 (probably damaging)
0.5SYNE1-F7302Vhomozygous0.991Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5SYNE1-L5015Mhomozygous0.866Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5SYNE1-S4596Thomozygous0.800Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5SYNE1-K4121Rhomozygous0.835Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5SYNE1-E4060Dhomozygous0.539Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.005 (benign), Testable gene in GeneTests with associated GeneReview
0.5SYNE1-A2795Vhet unknown0.260Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.001 (benign), Testable gene in GeneTests with associated GeneReview
0.5SYNE1-V1035Ahet unknown0.632Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.673 (possibly damaging), Testable gene in GeneTests with associated GeneReview
0.5SLC22A2-S270Ahomozygous0.876Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
0.5SLC22A1-L160Fhomozygous0.892Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5SLC22A1-S291Phet unknown0.008Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.984 (probably damaging)
0.5SLC22A1-M408Vhomozygous0.715Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5SLC22A16-H49Rhomozygous0.333Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
0.5LACE1-F455Lhet unknown0.016Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.999 (probably damaging)
0.5IL17F-E126Ghet unknown0.031Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.998 (probably damaging)
0.5PKHD1-Q4048Rhet unknown0.566Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5PKHD1-Q3899Rhet unknown0.546Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5PKHD1-L1870Vhomozygous0.905Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5PKHD1-A1262Vhet unknown0.239Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5PKHD1-R760Chet unknown0.318Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5EYS-R2326Qhet unknownUnknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.5EYS-L1419Shet unknown0.780Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown, Testable gene in GeneTests
0.5EYS-L852Phomozygous0.655Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown, Testable gene in GeneTests
0.5EYS-E641Vhet unknown0.112Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown, Testable gene in GeneTests
0.5EYS-V112Ihet unknown0.016Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.5CD109-G828Ehet unknown0.023Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.999 (probably damaging)
0.5CD109-T1241Mhet unknown0.401Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.014 (benign)
0.5CASP8AP2-T1567Shifthet unknownUnknown
Insufficiently evaluatedPrioritization score: 2
Frameshift
0.5CASP8AP2-S1568Shifthet unknownUnknown
Insufficiently evaluatedPrioritization score: 2
Frameshift
0.5LCA5-G656Dhet unknown0.377Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5LCA5-L24Shomozygous0.904Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.001 (benign), Testable gene in GeneTests with associated GeneReview
0.5PMS2-K541Ehomozygous0.904Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5PMS2-P470Shet unknownUnknown
benign
Low clinical importance,
likely
Benign, common variant.
0.5DNAH11-V1023Ahomozygous0.193Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5DNAH11-T1038Ahomozygous0.747Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5DNAH11-V3715Lhomozygous0.452Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5DNAH11-M4172Vhomozygous0.334Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5DNAH11-K4508Rhet unknown0.039Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5CYP3A7-R409Thomozygous0.669Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
0.5RNF133-M1Ihet unknown0.016Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.965 (probably damaging)
0.5LRGUK-P399Lhet unknown0.008Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.999 (probably damaging)
0.5LRGUK-R528Hhet unknown0.008Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 1.0 (probably damaging)
0.5KCNH2-C740Shet unknownUnknown
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5KCNH2-H739Rhet unknownUnknown
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5CLCN1-G118Whomozygous0.995Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5CLCN1-P727Lhet unknown0.325Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5ACN9-F53Lhet unknown0.039Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 1.0 (probably damaging)
0.5COL1A2-P549Ahomozygous0.907Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5GHRHR-T6Ihet unknown0.039Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.5STK31-E261Khet unknown0.090Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.001 (benign)
0.5STK31-K268Nhet unknown0.075Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: 0.941 (probably damaging)
0.5STK31-R385Chet unknown0.008Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.975 (probably damaging)
0.5STK31-N621Khet unknown0.086Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: 0.985 (probably damaging)
0.5CCM2-V53Ihet unknown0.053Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.007 (benign), Testable gene in GeneTests with associated GeneReview
0.5CCM2-V120Ihet unknown0.091Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.001 (benign), Testable gene in GeneTests with associated GeneReview
0.5STAG3L4-A89Thet unknown0.008Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.958 (probably damaging)
0.5STAG3L4-E116Qhomozygous0.617Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.002 (benign)
0.5AKAP9-I324Thet unknown0.008Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.5AKAP9-M463Ihet unknown0.376Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown, Testable gene in GeneTests
0.5AKAP9-K1335KQhet unknownUnknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.5AKAP9-N2792Shet unknown0.271Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown, Testable gene in GeneTests
0.5AKAP9-P2979Shomozygous0.997Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown, Testable gene in GeneTests
0.5WBSCR28-I14Nhomozygous0.577Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5WBSCR28-W78Rhomozygous0.594Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.022 (benign)
0.5WBSCR28-G137Shet unknown0.023Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.866 (probably damaging)
0.5CFI-T300Ahomozygous0.957Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5SLC25A2-Y44Shifthet unknown0.008Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Frameshift
0.5MOSC2-G244Shet unknown0.043Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.984 (probably damaging)
0.5OBSCN-Q502Rhomozygous0.733Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: 0.98 (probably damaging)
0.5OBSCN-V1508Dhomozygous1.000Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.005 (benign)
0.5OBSCN-A1532Vhet unknown0.266Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.002 (benign)
0.5OBSCN-D2106Ehet unknown0.723Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.04 (benign)
0.5OBSCN-F2116Lhet unknown0.710Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.182 (benign)
0.5OBSCN-V2720Mhet unknown0.306Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.839 (possibly damaging)
0.5OBSCN-R2797Qhet unknown0.008Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.949 (probably damaging)
0.5OBSCN-A3300Thet unknown0.312Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.552 (possibly damaging)
0.5OBSCN-G4039Rhet unknown0.228Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: 0.932 (probably damaging)
0.5OBSCN-H4381Rhet unknown0.716Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: 0.99 (probably damaging)
0.5OBSCN-C4450Rhet unknown0.754Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: 0.907 (probably damaging)
0.5OBSCN-R4516Whet unknown0.421Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.65 (possibly damaging)
0.5OBSCN-D4962Ghet unknown0.703Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.467 (possibly damaging)
0.5OBSCN-L5269Vhet unknown0.323Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.032 (benign)
0.5OBSCN-Q5891Ehet unknown0.573Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.027 (benign)
0.5OBSCN-A7172Vhet unknown0.644Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.012 (benign)
0.5DISC1-E751Qhet unknown0.016Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.899 (probably damaging)
0.5RYR2-S756Nhet unknown0.008Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5EDARADD-M9Ihomozygous0.726Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5RRP15-K149Nhet unknown0.043Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.997 (probably damaging)
0.5USH2A-I2106Thet unknown0.629Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5USH2A-I1665Thet unknown0.052Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.3 (possibly damaging), Testable gene in GeneTests with associated GeneReview
0.5USH2A-R1486Khomozygous0.646Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.063 (benign), Testable gene in GeneTests with associated GeneReview
0.5USH2A-A125Thomozygous0.777Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5TOR1AIP1-S143Fhet unknown0.008Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.998 (probably damaging)
0.5TOR1AIP1-M146Thomozygous0.583Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5TOR1AIP1-P276Rhomozygous0.572Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: 0.982 (probably damaging)
0.5TSEN15-G19Dhomozygous0.295Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.932 (probably damaging)
0.5TSEN15-Q59Hhomozygous0.283Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: 0.961 (probably damaging)
0.5HMCN1-I2418Thet unknown0.553Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: 0.468 (possibly damaging), Testable gene in GeneTests
0.5HMCN1-E2893Ghomozygous0.617Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.91 (probably damaging), Testable gene in GeneTests
0.5HMCN1-Q4437Rhomozygous0.547Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.997 (probably damaging), Testable gene in GeneTests
0.5CNTN2-R72Whet unknown0.008Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 1.0 (probably damaging)
0.5ASPM-Y2494Hhomozygous0.992Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5RAD51AP2-G1037Dhet unknown0.569Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: 0.979 (probably damaging)
0.5RAD51AP2-R976Hhet unknown0.019Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.994 (probably damaging)
0.5RAD51AP2-V876Lhet unknown0.019Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: 0.242 (possibly damaging)
0.5RAD51AP2-S760Ihet unknown0.016Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.048 (benign)
0.5RAD51AP2-C533Yhet unknown0.016Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
0.5RAD51AP2-T531Ihet unknown0.016Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.005 (benign)
0.5RAD51AP2-Q490Hhet unknown0.016Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.955 (probably damaging)
0.5RAD51AP2-T488Ihet unknown0.016Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: 0.375 (possibly damaging)
0.5GCKR-L446Phet unknown0.673Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown
0.5LRP2-I4210Lhomozygous0.462Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: 0.993 (probably damaging)
0.5LRP2-K4094Ehomozygous0.744Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
0.5LRP2-G259Rhet unknown0.070Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.001 (benign)
0.5LRP2-N83Shet unknown0.306Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.001 (benign)
0.5FASTKD1-R803Shifthet unknown0.008Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Frameshift
0.5COL3A1-H1353Qhomozygous0.990Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5ALS2-V368Mhomozygous0.869Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5ALS2CR11-C1039Ghomozygous1.000Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5ALS2CR11-P460Shet unknown0.008Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.97 (probably damaging)
0.5ALS2CR11-K157Nhet unknown0.008Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.02 (benign)
0.5SFTPB-A187Vhet unknown0.008Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.5SFTPB-T131Ihomozygous0.570Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown, Testable gene in GeneTests
0.5MOGS-V62Mhet unknown0.025Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.018 (benign), Testable gene in GeneTests with associated GeneReview
0.5ALK-D1529Ehet unknown0.606Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5ALK-I1461Vhomozygous0.982Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5ABCG5-A98Ghet unknown0.020Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.675 (possibly damaging), Testable gene in GeneTests
0.5EPCAM-A2Vhet unknown0.011Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.5EPCAM-M115Thet unknown0.726Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown, Testable gene in GeneTests
0.5ALMS1-S524SPhomozygous0.578Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5ALMS1-V671Ghomozygous0.857Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5ALMS1-R4029Khomozygous0.527Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5APLF-I100Vhet unknown0.213Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5APLF-S224Thomozygous0.323Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5APLF-L336Fhet unknown0.070Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5APLF-Q433Khet unknown0.047Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.997 (probably damaging)
0.5TNFSF18-I190Shifthet unknown0.008Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Frameshift
0.5USP21-P91Shet unknown0.027Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.979 (probably damaging)
0.5RLF-G957Dhet unknown0.031Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.968 (probably damaging)
0.5RIMS3-G234Shet unknown0.008Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.985 (probably damaging)
0.5KCNQ4-H455Qhomozygous0.156Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.191 (benign), Testable gene in GeneTests with associated GeneReview
0.5CYP4A22-R126Whet unknown0.289Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5CYP4A22-G130Shet unknownUnknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.999 (probably damaging)
0.5CYP4A22-N152Yhet unknown0.790Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5CYP4A22-C231Rhet unknown0.598Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5CYP4A22-L428Phet unknown0.297Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5PTPRF-H1730Qhet unknown0.008Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.986 (probably damaging)
0.5SESN2-R419Whet unknown0.008Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 1.0 (probably damaging)
0.5ALPL-Y263Hhet unknown0.286Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5ALPL-V522Ahet unknown0.078Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5H6PD-D151Ahet unknown0.086Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.292 (possibly damaging)
0.5H6PD-R453Qhet unknown0.407Recessive
pathogenic
Low clinical importance,
uncertain
This common variant may have a small pathogenic effect by contributing to cortisone reductase deficiency (a rare abnormality) when homozygous and combined with a serious pathogenic variant. The same authors have tested and ruled out a contribution to polycystic ovary syndrome (similar phenotype, more common disease).
0.5CLSTN1-G176Ehet unknown0.016Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.998 (probably damaging)
0.5ARHGEF19-R633Qhet unknown0.016Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.999 (probably damaging)
0.5EIF4G3-P496Ahet unknown0.031Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.97 (probably damaging)
0.5CROCC-R7Ghomozygous1.000Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5CROCC-A439Vhet unknown0.342Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.001 (benign)
0.5CROCC-D586Hhet unknown0.270Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: 0.991 (probably damaging)
0.5CROCC-R1030Whet unknown0.017Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.999 (probably damaging)
0.5CROCC-LE1031QKhet unknownUnknown
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
0.5EPS15-G296Dhet unknown0.008Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.995 (probably damaging)
0.5LRP8-R952Qhet unknown0.130Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown
0.5LRP8-D46Ehet unknown0.621Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5PROK1-R48Whet unknown0.031Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 1.0 (probably damaging)
0.5PPM1J-G488Rhet unknown0.023Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.992 (probably damaging)
0.5PPM1J-V236Ihomozygous0.974Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5AMPD1-K287Ihet unknown0.023Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 0.993 (probably damaging), Testable gene in GeneTests
0.5IL6R-D358Ahet unknown0.266Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 0.911 (probably damaging)
0.5SEC22B-D70Yhet unknown0.003Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
0.5SEC22B-T81Khet unknown0.500Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5SEC22B-R107Qhet unknown0.002Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
0.5SEC22B-C129Rhet unknown0.085Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5SEC22B-R131*het unknown0.019Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Nonsense mutation
0.5SEC22B-I147Lhet unknownUnknown
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
0.5SEC22B-H189Rhet unknown0.508Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5COL11A1-S1547Phomozygous0.752Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5COL11A1-P1335Lhomozygous0.479Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5DBT-S384Ghomozygous0.869Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5DBT-S242Phet unknown0.016Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5ATG4C-C367Yhet unknown0.008Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 1.0 (probably damaging)
0.5LEPR-K109Rhet unknown0.332Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 0.026 (benign), Testable gene in GeneTests
0.5LEPR-Q223Rhomozygous0.569Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 0.484 (possibly damaging), Testable gene in GeneTests
0.5GLMN-D91Nhet unknown0.008Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 0.977 (probably damaging), Testable gene in GeneTests
0.5AGL-K385Nhet unknown0.026Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 0.27 (possibly damaging), Testable gene in GeneTests with associated GeneReview
0.5AGL-S841Fhet unknown0.016Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.017 (benign), Testable gene in GeneTests with associated GeneReview
0.5DPYD-I543Vhet unknown0.199Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.5DPYD-R29Chomozygous0.731Complex/Other
pharmacogenetic
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown, Testable gene in GeneTests
0.5PARD3B-R192Khet unknown0.630Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5PARD3B-E250Khet unknown0.008Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.98 (probably damaging)
0.5PARD3B-T873Ihet unknown0.109Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5ABCA12-S777Thomozygous1.000Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5CDH23-G488Ahet unknown0.180Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5CDH23-N1349Dhomozygous0.772Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5CDH23-R1434Qhet unknown0.122Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5CDH23-A1572Thomozygous0.720Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5CDH23-V1672Ihet unknown0.133Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5CDH23-T1996Shomozygous0.248Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5ALPK1-Q67Rhet unknown0.008Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.997 (probably damaging)
0.5ALPK1-K383Ehet unknown0.008Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
0.5PRSS12-R833Qhet unknown0.047Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.982 (probably damaging)
0.5FAT4-S3873Nhomozygous0.988Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5FAT4-R4022Whet unknown0.008Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.999 (probably damaging)
0.5ANXA5-R245Qhet unknown0.008Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.986 (probably damaging)
0.5HADH-L86Phomozygous0.859Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5TET2-P363Lhet unknown0.028Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.917 (probably damaging)
0.5TET2-L1721Whet unknown0.070Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.032 (benign)
0.5TET2-I1762Vhet unknown0.184Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.006 (benign)
0.5TLR6-S249Phomozygous0.855Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
0.5UGT2B15-K523Thet unknownUnknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
0.5UGT2B15-Y85Dhomozygous0.500Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
0.5ENAM-P724Lhet unknown0.033Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.5NAAA-F334Lhomozygous0.736Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5NAAA-S254Fhet unknown0.008Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.983 (probably damaging)
0.5PPEF2-M481Lhomozygous0.994Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.001 (benign)
0.5PPEF2-T168Ihet unknown0.008Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.992 (probably damaging)
0.5TDO2-F400Shifthet unknown0.013Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Frameshift
0.5UFSP2-K103Rhet unknown0.031Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.985 (probably damaging)
0.5ERAP2-K392Nhomozygous0.540Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5ERAP2-N501Shifthet unknown0.024Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Frameshift
0.5APC-V1822Dhomozygous0.887Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5DMXL1-M1589Vhet unknown0.024Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.984 (probably damaging)
0.5FBXL21-V172Delhomozygous0.025Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
0.5FBXL21-P208Lhomozygous0.812Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5FBXL21-S396Shifthet unknown0.016Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Frameshift
0.5ALDH7A1-K439Qhet unknown0.072Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5AP3B1-K804Delhet unknown0.016Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5AP3B1-V585Ehomozygous0.806Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.002 (benign), Testable gene in GeneTests with associated GeneReview
0.5NNT-W43Chet unknown0.008Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.928 (probably damaging)
0.5NNT-T731Mhet unknown0.023Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
0.5DNAH5-I4450Vhet unknown0.481Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5DNAH5-A4134Vhet unknown0.450Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5DNAH5-N751Khet unknown0.008Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5DNAH5-G24Ehet unknown0.496Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5DNAH5-H12Qhomozygous0.896Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5PDZD2-Q1258Khet unknown0.022Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: 0.421 (possibly damaging)
0.5PDZD2-T1274Ahet unknown0.356Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.002 (benign)
0.5PDZD2-A1649Vhet unknown0.022Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: 0.778 (possibly damaging)
0.5PDZD2-Q2275Rhet unknown0.008Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.98 (probably damaging)
0.5ADAMTS12-L721Shifthet unknown0.008Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Frameshift
0.5NIPBL-N674Shomozygous0.129Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.028 (benign), Testable gene in GeneTests with associated GeneReview
0.5IL7R-I66Thomozygous0.597Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown, Testable gene in GeneTests
0.5IL7R-V138Ihomozygous0.689Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown, Testable gene in GeneTests
0.5IL7R-T244Ihet unknown0.150Unknown
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).
0.5IL7R-I356Vhet unknown0.214Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.5BST1-R125Hhet unknown0.049Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 1.0 (probably damaging)
0.5WFS1-V333Ihomozygous0.889Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5WFS1-R611Hhomozygous0.442Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 0.99 (probably damaging), Testable gene in GeneTests with associated GeneReview
0.5AGXT-P11Lhet unknown0.142Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 0.997 (probably damaging), Testable gene in GeneTests with associated GeneReview
0.5AGXT-I340Mhet unknown0.096Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5ITPR1-R345Qhet unknown0.008Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 0.21 (possibly damaging), Testable gene in GeneTests with associated GeneReview
0.5SETD5-R783Hhet unknown0.008Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.99 (probably damaging)
0.5GLB1-S532Ghet unknown0.049Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.5GLB1-C521Rhomozygous0.870Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown, Testable gene in GeneTests
0.5XPC-Q939Khet unknown0.683Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5XPC-A499Vhet unknown0.188Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5XPC-R492Hhet unknown0.026Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5PER2-V903Ihet unknown0.039Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.884 (probably damaging)
0.5COL6A3-T3069Ihet unknown0.364Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5COL6A3-A3012Phomozygous0.843Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5COL6A3-M2927Thomozygous0.674Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5IGFBP5-R138Whet unknown0.022Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.937 (probably damaging)
0.5STK36-K295Rhet unknown0.217Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.019 (benign)
0.5STK36-R477Whet unknown0.043Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.999 (probably damaging)
0.5STK36-R583Qhet unknown0.474Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: 0.892 (probably damaging)
0.5STK36-R1112Qhet unknown0.085Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.124 (benign)
0.5OBSL1-Q1578Rhomozygous0.968Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5OBSL1-E1365Dhomozygous0.723Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5OBSL1-R723Khomozygous0.770Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5TRPM8-R247Thet unknownUnknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.926 (probably damaging)
0.5TRPM8-Y251Chet unknown0.043Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.999 (probably damaging)
0.5TRPM8-S419Nhet unknown0.379Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5MOGAT1-A280Shifthet unknown0.008Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Frameshift
0.5SLC22A13-R449Whet unknown0.008Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 1.0 (probably damaging)
0.5KIF15-S182Lhet unknown0.008Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.998 (probably damaging)
0.5KIF15-L1206Mhomozygous0.484Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5LEPREL1-Q185Hhet unknown0.016Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.918 (probably damaging)
0.5TMEM44-Q237Rhomozygous0.878Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5TMEM44-P147Lhet unknown0.008Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.994 (probably damaging)
0.5DOK7-R38Ghomozygous0.208Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5DOK7-R38Ghomozygous0.208Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5EVC-Q74Phet unknown0.092Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.985 (probably damaging), Testable gene in GeneTests
0.5EVC-Y258Hhet unknown0.721Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.985 (probably damaging), Testable gene in GeneTests
0.5EVC-T449Khet unknown0.871Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown, Testable gene in GeneTests
0.5DOK7-H113Phomozygous0.183Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5DOK7-T137Ihomozygous0.177Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5MRPL3-M261Thet unknown0.019Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.977 (probably damaging)
0.5COL6A5-V756Mhet unknown0.008Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.988 (probably damaging)
0.5COL6A5-T1280Phomozygous0.278Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: 0.93 (probably damaging)
0.5COL6A5-C1477Shomozygous0.427Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5COL6A5-S1589Phomozygous0.379Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5COL6A5-Q2188Rhomozygous0.832Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.008 (benign)
0.5COL6A5-G2205Dhomozygous0.897Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5ATXN7-K264Rhet unknown0.103Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 0.949 (probably damaging), Testable gene in GeneTests with associated GeneReview
0.5ATXN7-M641Vhet unknown0.008Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.009 (benign), Testable gene in GeneTests with associated GeneReview
0.5ATXN7-V862Mhet unknown0.485Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5LARS2-E60Dhet unknown0.008Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.994 (probably damaging)
0.5KBTBD8-F179Lhet unknownUnknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.998 (probably damaging)
0.5GBE1-I334Vhomozygous0.979Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5GBE1-R190Ghet unknown0.321Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.025 (benign), Testable gene in GeneTests with associated GeneReview
0.5NR_015394-T113Shifthet unknownUnknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Frameshift
0.5NFKBIZ-N479Shet unknown0.008Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.995 (probably damaging)
0.5NEBL-D378Hhet unknown0.078Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: 0.995 (probably damaging)
0.5NEBL-M351Vhet unknown0.042Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.998 (probably damaging)
0.5FBN1-C472Yhomozygous1.000Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5COL1A1-T1075Ahomozygous0.961Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5ABCC3-R1297Hhet unknown0.030Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 1.0 (probably damaging)
0.5BRIP1-S919Phomozygous0.652Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5SCN4A-N1376Dhomozygous0.604Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5SCN4A-S524Ghomozygous0.938Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5ACE-N1036Khet unknown0.008Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 0.904 (probably damaging), Testable gene in GeneTests
0.5PNPO-R116Qhet unknown0.036Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 0.953 (probably damaging), Testable gene in GeneTests
0.5DCAKD-R147Whet unknown0.008Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 1.0 (probably damaging)
0.5KIAA0100-V1516Ghet unknown0.121Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.001 (benign)
0.5KIAA0100-P1514Shet unknown0.008Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.009 (benign)
0.5KIAA0100-H137Qhet unknown0.016Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 1.0 (probably damaging)
0.5LGALS9-G5Shet unknown0.177Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5LGALS9-R177Chet unknown0.008Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.994 (probably damaging)
0.5LGALS9-Q179Lhet unknown0.048Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: 0.777 (possibly damaging)
0.5EFCAB5-L237Vhet unknown0.561Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5EFCAB5-I278Khomozygous0.995Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5EFCAB5-A1120Shet unknown0.008Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.914 (probably damaging)
0.5ERBB2-I655Vhet unknown0.121Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: 0.18 (benign)
0.5ERBB2-P1170Ahomozygous0.275Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: 0.983 (probably damaging)
0.5ERBB2-A1216Dhet unknown0.023Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.992 (probably damaging)
0.5JUP-M697Lhet unknown0.520Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5JUP-R142Hhet unknown0.033Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5KRT14-C63Yhomozygous0.976Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5APOH-C325Ghet unknown0.017Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.996 (probably damaging)
0.5APOH-V266Lhet unknown0.542Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.001 (benign)
0.5KIAA0195-G85Rhet unknown0.008Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.894 (probably damaging)
0.5ATP8B1-A1152Thomozygous0.998Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5CTDP1-A496Vhet unknown0.008Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5PLIN5-R306Whet unknown0.026Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.999 (probably damaging)
0.5RDH8-V188Mhet unknown0.008Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.98 (probably damaging)
0.5ADAMTS10-H1101Qhomozygous1.000Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5TTR-G26Shet unknown0.030Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5DSG2-E713Khet unknown0.039Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.137 (benign), Testable gene in GeneTests with associated GeneReview
0.5DSG2-R773Khet unknown0.221Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.003 (benign), Testable gene in GeneTests with associated GeneReview
0.5UNC13D-K867Ehomozygous0.596Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5UNC13D-A59Thomozygous0.005Unknown
benign
Low clinical importance,
uncertain
Probably benign. This variant was reported to cause haemophagocytic lymphohistiocytosis in a recessive manner, but its allele frequency is inconsistent with this hypothesis and so we evaluate it as a nonpathogenic polymorphism.
0.5TSEN54-I137Lhet unknown0.119Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.846 (possibly damaging), Testable gene in GeneTests with associated GeneReview
0.5TSEN54-P483Ahet unknown0.062Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 0.999 (probably damaging), Testable gene in GeneTests with associated GeneReview
0.5CCDC40-L752Phet unknown0.008Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.992 (probably damaging)
0.5GAA-H199Rhomozygous0.574Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5GAA-R223Hhomozygous0.606Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5GAA-V780Ihomozygous0.720Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5DSC3-A28Dhet unknown0.036Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.067 (benign), Testable gene in GeneTests with associated GeneReview
0.5LAMA3-P1208Thet unknown0.042Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5LAMA3-S2834Ghomozygous0.993Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5SMCR5-R2*het unknown0.008Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Nonsense mutation
0.5MYH13-D1076Ehet unknown0.248Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5MYH13-M1071Vhet unknown0.545Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.025 (benign)
0.5MYH13-T237Ihet unknown0.008Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.91 (probably damaging)
0.5PDIA2-T119Rhet unknown0.094Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: 0.993 (probably damaging)
0.5PDIA2-D483Yhet unknown0.008Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.992 (probably damaging)
0.5ZNF597-L199Vhet unknown0.016Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.883 (probably damaging)
0.5DNASE1-Y117Shet unknown0.008Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 1.0 (probably damaging)
0.5DNASE1-R244Qhet unknown0.564Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.145 (benign)
0.5SH2B1-T484Ahet unknown0.217Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown
0.5ABCC6-M848Vhomozygous0.954Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5FANCI-A86Vhet unknown0.219Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5FANCI-C742Shet unknown0.234Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5FANCI-I877Lhet unknown0.086Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5ADAMTSL3-L290Vhomozygous0.833Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5ADAMTSL3-V661Lhet unknown0.711Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown
0.5ADAMTSL3-G713Rhet unknown0.048Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.001 (benign)
0.5NR2E3-T318Shifthomozygous1.000Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Frameshift, Testable gene in GeneTests
0.5ONECUT1-G96Dhet unknown0.008Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.92 (probably damaging)
0.5HEXA-I436Vhomozygous0.748Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5NEO1-R627Qhet unknown0.008Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.998 (probably damaging)
0.5NEIL1-P106Shifthet unknown0.008Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Frameshift
0.5TBC1D21-R83Qhet unknown0.016Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.997 (probably damaging)
0.5CD19-L174Vhomozygous0.876Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5CD19-R514Hhet unknown0.035Unknown
benign
Low clinical importance,
uncertain
Presumed benign.
0.5SEPT1-G80Vhet unknown0.016Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.946 (probably damaging)
0.5SNAI3-V7Mhet unknown0.023Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.968 (probably damaging)
0.5PLCG2-R268Whet unknown0.033Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.95 (probably damaging)
0.5FANCA-V1287Ihet unknown0.074Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.349 (possibly damaging), Testable gene in GeneTests with associated GeneReview
0.5FANCA-G501Shomozygous0.654Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5CTNS-T260Ihomozygous0.825Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5CTNS-P380Ahomozygous0.203Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5RABEP1-M628Ihet unknown0.032Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.991 (probably damaging)
0.5ENO3-N71Shet unknownUnknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.5MON1B-R447Whet unknown0.008Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 1.0 (probably damaging)
0.5DHODH-K7Qhomozygous0.560Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: 0.004 (benign)
0.5CES5A-Q305Hhet unknown0.008Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: 0.845 (possibly damaging)
0.5CES5A-R176Whet unknown0.021Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 1.0 (probably damaging)
0.5CES5A-Q174*het unknown0.043Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Nonsense mutation
0.5SALL1-V1275Ihomozygous0.983Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5SLC12A3-A264Ghomozygous0.976Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown, Testable gene in GeneTests
0.5SLC12A3-N622Shet unknown0.016Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.5TSNAXIP1-R428Chet unknown0.023Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.97 (probably damaging)
0.5MYOF-R1783Qhet unknown0.042Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 1.0 (probably damaging)
0.5NQO1-P187Shet unknown0.283Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.215 (possibly damaging)
0.5TYK2-V362Fhomozygous0.268Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.003 (benign), Testable gene in GeneTests
0.5TSPAN16-S233Shifthet unknown0.016Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Frameshift
0.5COL9A3-A435Ehomozygous0.218Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.568 (possibly damaging), Testable gene in GeneTests with associated GeneReview
0.5TPTE-L470Phet unknown0.997Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5TPTE-K386Ehomozygous0.997Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5TPTE-R229*het unknownUnknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Nonsense mutation
0.5TPTE-R222Delhet unknownUnknown
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
0.5TPTE-R195Qhet unknown0.346Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5DNMT3L-R271Qhet unknown0.008Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.882 (probably damaging)
0.5SLC19A1-C458Ghet unknown0.016Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.958 (probably damaging)
0.5SLC19A1-H27Rhet unknown0.447Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: 0.002 (benign)
0.5KRTAP10-4-D31Ahet unknown0.026Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.945 (probably damaging)
0.5LAMA5-R3079Whet unknown0.655Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5LAMA5-D2062Nhet unknown0.559Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.551 (possibly damaging)
0.5LAMA5-A1908Thet unknown0.189Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.006 (benign)
0.5LAMA5-V1900Mhet unknown0.674Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5LAMA5-F1807Shomozygous0.895Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5LAMA5-R1679Whet unknown0.008Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.989 (probably damaging)
0.5LAMA5-K1367Ehomozygous0.912Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5LAMA5-M1258Thomozygous0.807Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5LAMA5-T956Ahomozygous1.000Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5LAMA5-K812Thet unknown0.008Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.991 (probably damaging)
0.5LAMA5-T401Ahomozygous0.868Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.184 (benign)
0.5TUBB1-Q43Phet unknown0.007Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.877 (probably damaging)
0.5OTOR-M1Thet unknown0.025Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.946 (probably damaging)
0.5TMC2-V710Ehet unknown0.008Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.984 (probably damaging)
0.5EPB41L1-P547Rhet unknown0.008Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.973 (probably damaging)
0.5WFDC3-R63Lhet unknown0.022Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.998 (probably damaging)
0.5WFDC3-H36Dhomozygous0.670Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.207 (possibly damaging)
0.5GNAS-M162Vhet unknown0.008Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.5SALL4-I798Lhet unknown0.100Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.001 (benign), Testable gene in GeneTests with associated GeneReview
0.5SALL4-L507Rhet unknown0.328Dominant
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.125 (benign), Testable gene in GeneTests with associated GeneReview
0.5GAB4-W206Chet unknown0.016Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.998 (probably damaging)
0.5GAB4-G163*homozygous0.279Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Nonsense mutation
0.5NR_027052-R29Hhet unknownUnknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
0.5NR_027052-T53Shifthet unknownUnknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Frameshift
0.5NR_027052-Y63Nhet unknownUnknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
0.5KAL1-V534Ihomozygous0.543Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5ARSE-G424Shomozygous0.543Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.003 (benign), Testable gene in GeneTests with associated GeneReview
0.5DMD-R2937Qhomozygous0.899Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5DMD-D882Ghomozygous0.727Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5UBA1-R447Hhomozygous0.199Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5OPN1LW-S180Ahomozygous0.229Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.001 (benign), Testable gene in GeneTests with associated GeneReview
0.5ATP7A-E1350Khomozygous1.000Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5CYP2D6-H94Rhet unknown0.112Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5CYP2D6-L91Mhet unknown0.110Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5CYP2D6-P34Shet unknown0.224Complex/Other
pharmacogenetic
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown
0.5FAM83F-R436Ghet unknownUnknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.939 (probably damaging)
0.5RGL4-H241Yhet unknown0.799Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5RGL4-D358Vhet unknown0.014Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.948 (probably damaging)
0.5RGL4-V378Ahet unknown0.798Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5RGL4-P470Shet unknown0.016Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.999 (probably damaging)
0.5RGL4-N472Dhet unknown0.023Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.064 (benign)
0.5SDF2L1-P97Shifthet unknown0.010Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Frameshift
0.5CABIN1-R853Qhet unknown0.122Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5CABIN1-V2185Mhet unknown0.008Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.907 (probably damaging)
0.5HPS4-H601Yhomozygous0.807Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5HPS4-V547Mhomozygous0.780Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5HPS4-L438Vhet unknown0.344Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5HPS4-E224Ghomozygous0.779Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5TRIOBP-S217Nhet unknown0.413Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.914 (probably damaging), Testable gene in GeneTests
0.5TRIOBP-A322Vhet unknown0.008Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.5TRIOBP-E1372Dhet unknown0.237Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: 0.293 (possibly damaging), Testable gene in GeneTests
0.5TRIOBP-W1377Rhomozygous0.964Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: 0.084 (benign), Testable gene in GeneTests
0.5PLA2G3-L428Phet unknown0.008Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.996 (probably damaging)
0.5PLA2G3-R378Qhet unknown0.129Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.001 (benign)
0.5PLA2G3-S70Ahomozygous0.830Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5DEFB126-M51Thet unknown0.039Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: 0.84 (possibly damaging)
0.5DEFB126-P106Shifthet unknown0.023Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Frameshift
0.5CHMP2A-E170Ghet unknown0.008Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 1.0 (probably damaging)
0.5DLL3-L218Phomozygous0.650Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5FCGBP-A5017Vhet unknown0.371Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.003 (benign)
0.5FCGBP-R4909Hhet unknown0.038Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.996 (probably damaging)
0.5FCGBP-D4906Hhet unknown0.390Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: 0.932 (probably damaging)
0.5FCGBP-P4665Lhet unknown0.053Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: 0.979 (probably damaging)
0.5FCGBP-G4506Rhet unknown0.028Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.051 (benign)
0.5FCGBP-DK3847EEhomozygous0.009Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
0.5FCGBP-H3668Rhomozygous0.575Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5FCGBP-S1961Phomozygous0.875Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5ZNF546-T821Ihet unknown0.016Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.936 (probably damaging)
0.5ZNF224-M118Vhet unknown0.793Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5ZNF224-H162Lhomozygous0.780Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.262 (possibly damaging)
0.5ZNF224-K640Ehomozygous0.593Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
0.5PRX-G1132Rhomozygous0.978Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5PRX-V882Ahet unknown0.493Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.014 (benign), Testable gene in GeneTests with associated GeneReview
0.5PRX-A244Vhet unknown0.023Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.036 (benign), Testable gene in GeneTests with associated GeneReview
0.5ARHGAP33-R746Qhet unknownUnknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.928 (probably damaging)
0.5FFAR3-R45Hhet unknown0.028Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.998 (probably damaging)
0.5MAN2B1-N413Shet unknown0.055Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.489 (possibly damaging), Testable gene in GeneTests with associated GeneReview
0.5MAN2B1-L278Vhet unknown0.236Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5ZNF442-Y237Chet unknown0.008Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.991 (probably damaging)
0.5NOTCH3-A2223Vhomozygous0.553Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5PGLYRP2-R476Whet unknown0.003Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.998 (probably damaging)
0.5PGLYRP2-M270Khomozygous0.399Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.2 (possibly damaging)
0.5PGLYRP2-R99Qhomozygous0.364Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.001 (benign)
0.5PGLYRP2-T46Ahomozygous0.366Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5GPATCH1-H724Rhet unknown0.634Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5GPATCH1-L728Shet unknown0.764Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5GPATCH1-L834Qhet unknown0.008Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.981 (probably damaging)
0.5ZNF101-H360Shifthet unknown0.008Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Frameshift
0.5ERCC2-K751Qhet unknown0.218Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5ERCC2-D312Nhet unknown0.145Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.032 (benign), Testable gene in GeneTests with associated GeneReview
0.5SIX5-V693Mhet unknown0.261Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.086 (benign), Testable gene in GeneTests with associated GeneReview
0.5SIX5-P635Shet unknown0.533Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 0.891 (probably damaging), Testable gene in GeneTests with associated GeneReview
0.5SIX5-L556Vhomozygous0.833Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5ZNF175-R144Chet unknown0.047Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.115 (benign)
0.5ZNF175-H531Lhet unknown0.008Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.986 (probably damaging)
0.5JOSD2-N107Ihet unknown0.011Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 1.0 (probably damaging)
0.5LILRB4-G12Rhet unknown0.008Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: 0.427 (possibly damaging)
0.5LILRB4-D223Ghet unknown0.590Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5LILRB4-R289Ghet unknown0.023Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.999 (probably damaging)
0.5NLRP2-T221Mhet unknown0.048Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.998 (probably damaging)
0.5ZIM3-K438*het unknown0.023Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Nonsense mutation
0.5ZIM3-I379Vhet unknown0.372Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.651 (possibly damaging)
0.5ZIM3-N157Dhet unknown0.757Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5ZIM3-L69Mhet unknown0.372Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.05 (benign)
0.5FAM71E2-E882*het unknownUnknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Nonsense mutation
0.5FAM71E2-P711Rhomozygous0.955Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5FAM71E2-K629Ehet unknown0.861Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5FAM71E2-E546Qhomozygous0.956Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5FAM71E2-L406Phomozygous0.949Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5PRRG2-R104Qhet unknown0.016Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.989 (probably damaging)
0.5PRRG2-G116Chet unknown0.297Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5SLC6A16-L313Rhet unknown0.008Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.992 (probably damaging)
0.5EMP3-I125Vhet unknown0.035Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.878 (probably damaging)
0.5ZNF114-R244Qhet unknown0.023Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.917 (probably damaging)
0.5FAM83E-P311Lhet unknown0.140Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: 0.996 (probably damaging)
0.5FAM83E-G244Shet unknown0.008Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.998 (probably damaging)
0.5FAM83E-T91Ahet unknown0.560Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5FUT2-W154*het unknown0.364Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 2
Nonsense mutation
0.5FUT2-G258Shet unknown0.390Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 0.954 (probably damaging)
0.5HSD17B14-R130Whet unknown0.016Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 1.0 (probably damaging)
0.5BCAT2-F139Lhet unknown0.008Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 1.0 (probably damaging), Testable gene in GeneTests
0.5HYDIN-E4159Qhet unknownUnknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
0.5HYDIN-T4004Ahet unknown0.432Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5HYDIN-Q3904Shifthet unknown0.500Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Frameshift
0.5HYDIN-M3868Rhet unknown0.306Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5HYDIN-V3839Lhet unknown0.500Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5HYDIN-V3741Ihet unknown0.500Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5HYDIN-A3738Thet unknown0.500Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5HYDIN-L3315Phet unknown0.500Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5HYDIN-A3290Phet unknown0.500Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5HYDIN-I2693Shet unknown0.500Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5HYDIN-K2588Rhet unknown0.500Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5HYDIN-D2569Nhet unknown0.500Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5HYDIN-G2557Ehet unknown0.994Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5HYDIN-TEKER2520Delhet unknown0.644Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5HYDIN-L2501Shet unknown0.500Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5HYDIN-P2454Qhomozygous1.000Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.001 (benign)
0.5HYDIN-N2444Ihet unknown0.500Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.001 (benign)
0.5HYDIN-E2305Ghet unknown0.347Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: 0.988 (probably damaging)
0.5HYDIN-R2297Ghet unknown0.500Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: 0.997 (probably damaging)
0.5HYDIN-Q2241Rhet unknown0.500Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.001 (benign)
0.5HYDIN-V2098Mhet unknown0.500Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.001 (benign)
0.5HYDIN-R2086Chet unknown0.500Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: 0.998 (probably damaging)
0.5HYDIN-I1533Vhet unknown0.500Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.001 (benign)
0.5HYDIN-P1491Hhet unknown0.347Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: 0.994 (probably damaging)
0.5HYDIN-V1228Lhet unknownUnknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
0.5HYDIN-I1077Vhet unknown0.500Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.082 (benign)
0.5HYDIN-N724Dhet unknown0.500Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: 0.955 (probably damaging)
0.5HYDIN-T690Ahet unknown0.500Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: 0.955 (probably damaging)
0.5HYDIN-T584Nhet unknown0.048Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.955 (probably damaging)
0.5HYDIN-G489Dhet unknown0.360Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: 0.995 (probably damaging)
0.5B3GALTL-E370Khomozygous0.612Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.088 (benign), Testable gene in GeneTests with associated GeneReview
0.5KIF21A-G614Vhet unknown0.016Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5LRRK2-R50Hhomozygous0.927Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5LRRK2-S1647Thet unknown0.294Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5LRRK2-M2397Thomozygous0.526Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5STRC-Q84Rhomozygous1.000Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5VDR-M1Thet unknown0.687Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 0.999 (probably damaging), Testable gene in GeneTests
0.5ATF7IP-N348Ihet unknown0.236Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.017 (benign)
0.5ATF7IP-K530Rhet unknown0.447Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5ATF7IP-P1071Shet unknown0.008Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.852 (probably damaging)
0.5VWF-F2561Yhet unknown0.039Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 0.293 (possibly damaging), Testable gene in GeneTests with associated GeneReview
0.5VWF-Q852Rhet unknown0.904Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5VWF-T789Ahet unknown0.355Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.004 (benign), Testable gene in GeneTests with associated GeneReview
0.5VWF-H484Rhet unknown0.498Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.83 (possibly damaging), Testable gene in GeneTests with associated GeneReview
0.5TRPC6-A404Vhet unknown0.099Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.937 (probably damaging), Testable gene in GeneTests
0.5MMP8-Q450*het unknown0.016Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Nonsense mutation
0.5MMP8-K87Ehet unknown0.619Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.002 (benign)
0.5MMP8-T32Ihet unknown0.677Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5ATM-N1983Shomozygous0.991Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5WNK1-A141Thet unknown0.051Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5WNK1-T1056Phomozygous0.838Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5WNK1-M1808Ihomozygous0.431Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5USP2-R160Whet unknown0.008Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.954 (probably damaging)
0.5COL2A1-E142Dhet unknown0.055Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5MLL2-T1246Mhet unknown0.016Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.5UTP20-R693Khet unknownUnknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.994 (probably damaging)
0.5UTP20-L1882Qhomozygous0.995Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5SH2B3-W262Rhet unknown0.768Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown
0.5CCDC62-T141Mhet unknown0.023Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.989 (probably damaging)
0.5SACS-V3369Ahet unknown0.244Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.769 (possibly damaging), Testable gene in GeneTests with associated GeneReview
0.5SACS-N1489Shet unknown0.023Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.011 (benign), Testable gene in GeneTests with associated GeneReview
0.5ALX1-H61Rhet unknown0.016Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.941 (probably damaging)
0.5BBS10-Q147Rhet unknown0.008Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.008 (benign), Testable gene in GeneTests with associated GeneReview
0.5KRT83-H493Yhet unknown0.791Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown, Testable gene in GeneTests
0.5KRT83-I279Mhet unknownUnknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.5KRT83-C222*het unknownUnknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Nonsense mutation, Testable gene in GeneTests
0.5KRT6B-Y497Chet unknown0.016Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5KRT78-I281Shet unknown0.008Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.894 (probably damaging)
0.5KRT78-L92Phomozygous0.482Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: 0.983 (probably damaging)
0.5TRHDE-R707Whet unknown0.008Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.986 (probably damaging)
0.5ITGA7-E886Khet unknownUnknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.5ITGA7-R655Hhomozygous0.570Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown, Testable gene in GeneTests
0.5CCDC82-R211Hhet unknown0.008Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.993 (probably damaging)
0.5CCDC81-H303Qhet unknownUnknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: 0.305 (possibly damaging)
0.5CCDC81-L558Rhet unknownUnknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.972 (probably damaging)
0.5TACC2-V170Ihomozygous0.225Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5TACC2-L830Fhomozygous0.204Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5TACC2-A1066Thomozygous0.185Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5TACC2-W1103Rhomozygous0.964Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.003 (benign)
0.5TACC2-A1425Thomozygous0.241Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5TACC2-E1916Khomozygous0.098Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: 0.98 (probably damaging)
0.5TACC2-S2909Thet unknown0.023Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.981 (probably damaging)
0.5CUZD1-I285Thet unknown0.008Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.984 (probably damaging)
0.5KNDC1-A128Shet unknown0.023Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.076 (benign)
0.5KNDC1-S155Ghet unknown0.026Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
0.5KNDC1-R156Qhet unknown0.024Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
0.5KNDC1-E436Ghet unknown0.378Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5KNDC1-V543Ihet unknown0.008Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
0.5KNDC1-C603Yhet unknown0.023Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.986 (probably damaging)
0.5KNDC1-L717Phomozygous0.549Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5KNDC1-V806Dhet unknown0.360Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.007 (benign)
0.5ANO9-C399Rhomozygous0.931Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.175 (benign)
0.5ANO9-I391Vhomozygous0.927Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5ANO9-F93Lhomozygous0.994Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5ANO9-R52Whet unknown0.008Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.928 (probably damaging)
0.5SEC23IP-K644Ehomozygous0.748Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5SEC23IP-R800Qhet unknown0.008Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 1.0 (probably damaging)
0.5BAG3-R71Qhet unknown0.008Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5BAG3-C151Rhet unknown0.065Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5GBF1-R1557Whet unknown0.008Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 1.0 (probably damaging)
0.5PSD-R960Whet unknown0.008Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.988 (probably damaging)
0.5AX746750-S137Shifthet unknown0.010Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Frameshift
0.5COL17A1-M703Vhomozygous0.672Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5COL17A1-G428Shomozygous0.771Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5COL17A1-L361Vhet unknown0.008Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5COL17A1-T210Mhomozygous0.557Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5SUFU-R280Qhet unknown0.008Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 0.991 (probably damaging), Testable gene in GeneTests
0.5CTSD-A58Vhet unknown0.067Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.003 (benign), Testable gene in GeneTests with associated GeneReview
0.5TRIM22-D155Nhomozygous0.435Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.024 (benign)
0.5TRIM22-R242Thomozygous0.306Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.001 (benign)
0.5TRIM22-R321Khet unknown0.021Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.99 (probably damaging)
0.5MADD-R766*het unknown0.023Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Nonsense mutation, Testable gene in GeneTests
0.5PTPRJ-Q276Phomozygous0.173Complex/Other
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.007 (benign)
0.5PTPRJ-R326Qhomozygous0.249Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.004 (benign)
0.5ZP1-D107Nhet unknown0.008Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.887 (probably damaging)
0.5ZP1-T158Ihomozygous0.692Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.009 (benign)
0.5CPT1A-A275Thet unknown0.030Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5MEN1-T546Ahomozygous0.791Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5PEX16-V116Ihomozygous1.000Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5ACCSL-R50Ghet unknown0.008Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.994 (probably damaging)
0.5ACCSL-C529Rhet unknown0.838Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5OR52N4-T106Ihomozygous0.921Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5OR52N4-L167Rhomozygous0.892Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5OR52N4-W209Ghet unknown0.181Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5OR52N4-N218Ihomozygous0.899Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5OR52N4-S219Fhet unknown0.008Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.999 (probably damaging)
0.5NRIP3-R160Whet unknown0.008Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.899 (probably damaging)
0.5PLEKHA7-T236Rhet unknown0.016Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.935 (probably damaging)
0.5SLC6A5-G102Shet unknown0.420Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5SLC6A5-F124Shet unknown0.803Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5SLC6A5-A162Ghomozygous0.997Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5SLC6A5-D463Nhet unknown0.177Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.122 (benign), Testable gene in GeneTests with associated GeneReview
0.5SPTY2D1-R447Qhet unknown0.008Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.932 (probably damaging)
0.5ARID2-A1569Thet unknown0.008Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.891 (probably damaging)
0.5SUCLA2-S199Thomozygous0.722Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5SYNE2-R968Hhet unknown0.008Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 0.99 (probably damaging), Testable gene in GeneTests
0.5SYNE2-M1969Thet unknown0.637Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.991 (probably damaging), Testable gene in GeneTests
0.5SYNE2-A2284Vhomozygous0.637Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: 0.289 (possibly damaging), Testable gene in GeneTests
0.5SYNE2-S2359Nhomozygous0.676Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: 0.697 (possibly damaging), Testable gene in GeneTests
0.5SYNE2-A2395Thomozygous0.835Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown, Testable gene in GeneTests
0.5SYNE2-S2802Ghomozygous0.864Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: 0.012 (benign), Testable gene in GeneTests
0.5SYNE2-I2942Vhomozygous0.622Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown, Testable gene in GeneTests
0.5SYNE2-D3253Hhomozygous0.684Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.933 (probably damaging), Testable gene in GeneTests
0.5SYNE2-H3309Rhomozygous0.647Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: 0.001 (benign), Testable gene in GeneTests
0.5SYNE2-L5186Mhomozygous0.708Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown, Testable gene in GeneTests
0.5SYNE2-D5547Nhet unknown0.013Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.293 (possibly damaging), Testable gene in GeneTests
0.5SYNE2-I6547Vhet unknown0.023Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.5MTHFD1-K134Rhet unknown0.846Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5MTHFD1-R653Qhet unknown0.320Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.008 (benign)
0.5DHRS7-R218Qhet unknown0.008Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.999 (probably damaging)
0.5PYGL-V222Ihomozygous0.119Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.336 (possibly damaging), Testable gene in GeneTests with associated GeneReview
0.5LMO7-E547Ghet unknown0.008Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.986 (probably damaging)
0.5LMO7-P554Shet unknown0.055Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5LMO7-M1162Thet unknown0.686Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5SLC10A2-S171Ahomozygous0.854Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5SLC10A2-N27Shet unknown0.008Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.985 (probably damaging)
0.5TEP1-A2310Shet unknown0.023Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5TEP1-A1934Shet unknown0.008Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5TEP1-C1468Yhet unknown0.268Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5TEP1-S1195Phet unknown0.703Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5TEP1-P1159Hhet unknown0.008Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5TEP1-R1055Chet unknown0.631Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5TEP1-N307Khet unknown0.369Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5RAD51L1-K243Rhet unknown0.016Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.997 (probably damaging)
0.5FREM2-S745Phomozygous0.994Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown, Testable gene in GeneTests
0.5FREM2-C914Ghet unknown0.008Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 0.999 (probably damaging), Testable gene in GeneTests
0.5FREM2-T2326Ihomozygous0.768Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown, Testable gene in GeneTests
0.5SPRED1-N10Khet unknown0.008Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.03 (benign), Testable gene in GeneTests with associated GeneReview
0.5THBS1-A195Thet unknown0.008Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
0.5THBS1-L912Shifthet unknown0.016Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Frameshift
0.5PAK6-R262Qhet unknown0.016Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.942 (probably damaging)
0.5AVEN-G236Vhet unknown0.008Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.988 (probably damaging)
0.5XRCC3-T241Mhomozygous0.218Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.188 (benign)
0.5TTLL5-A149Vhomozygous0.338Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.046 (benign)
0.5TTLL5-N633Dhet unknown0.008Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.937 (probably damaging)
0.5GALC-T641Ahomozygous0.892Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5GALC-I562Thet unknown0.446Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.167 (benign), Testable gene in GeneTests with associated GeneReview
0.5MOAP1-V197Mhet unknown0.008Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.98 (probably damaging)
0.5MLH3-N826Dhomozygous0.981Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5AKAP11-H1070Rhet unknown0.004Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.941 (probably damaging)
0.375OTOF-F303Lhet unknownUnknown
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.375OTOF-R82Chet unknown0.229Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.006 (benign), Testable gene in GeneTests with associated GeneReview
0.375GLI2-DR1003AWhet unknownUnknown
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.375GLI2-A1156Shet unknown0.536Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.375GLI2-D1306Nhet unknown0.595Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.375FUT6-R303Ghet unknown0.107Recessive
pathogenic
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.725 (possibly damaging)
0.375FUT6-P124Shet unknown0.496Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.614 (possibly damaging)
0.25CFH-H402Yhet unknown0.818Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25OCA2-H615Rhet unknown0.313Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 0.998 (probably damaging), Testable gene in GeneTests with associated GeneReview
0.25ABCC8-A1369Shet unknown0.755Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25MMP9-A20Vhet unknown0.034Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
0.25MMP9-N38Shet unknown0.016Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
0.25MMP9-Q279Rhet unknown0.477Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
0.25MMP9-R574Phomozygous0.813Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.25USH1C-E819Dhet unknown0.408Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25TLR1-S602Ihet unknown0.727Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
0.25TLR1-R80Thet unknown0.019Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.008 (benign)
0.25CACNA1S-R1658Hhet unknown0.111Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25KCNE1-S38Ghet unknown0.710Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.003 (benign), Testable gene in GeneTests with associated GeneReview
0.25TH-V108Mhet unknown0.416Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25KCNQ2-N780Thet unknown0.509Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25SLC28A1-V189Ihet unknown0.313Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
0.25SLC28A1-Q237Khet unknown0.241Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.25SLC28A1-D521Nhet unknown0.226Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
0.25RAI1-G90Ahet unknown0.281Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25RAI1-P165Thet unknown0.542Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 0.999 (probably damaging), Testable gene in GeneTests with associated GeneReview
0.25PKD1-A4059Vhet unknown0.048Unknown
benign
Low clinical importance,
likely
Probably benign.
0.25PKD1-A3512Vhet unknown0.125Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.001 (benign), Testable gene in GeneTests with associated GeneReview
0.25TG-S734Ahet unknown0.698Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests
0.25TG-R988Hhet unknownUnknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: 0.178 (benign), Testable gene in GeneTests
0.25TG-M1028Vhet unknown0.696Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: 0.003 (benign), Testable gene in GeneTests
0.25TG-R1999Whet unknown0.372Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown, Testable gene in GeneTests
0.25TG-W2501Rhomozygous0.566Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: 0.031 (benign), Testable gene in GeneTests
0.25TMEM67-I604Vhet unknown0.710Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25NBN-E185Qhet unknown0.338Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25VCAN-T689Ahet unknown0.016Unknown
benign
Low clinical importance,
uncertain
Probably not pathogenic, seen in two healthy PGP participants, contradicting a severe pathogenic effect.
0.25VCAN-K1516Rhet unknown0.480Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25VCAN-R1826Hhet unknown0.349Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.002 (benign), Testable gene in GeneTests with associated GeneReview
0.25VCAN-F2301Yhet unknown0.462Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25VCAN-D2937Yhet unknown0.352Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.11 (benign), Testable gene in GeneTests with associated GeneReview
0.25ALX4-P102Shet unknown0.217Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25ALX4-R35Thet unknown0.393Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 0.985 (probably damaging), Testable gene in GeneTests with associated GeneReview
0.25TRIB3-Q84Rhet unknown0.188Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
0.25FMO3-E158Khet unknown0.374Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25FMO3-E308Ghet unknown0.104Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.141 (benign), Testable gene in GeneTests with associated GeneReview
0.25MYH11-A1241Thet unknown0.223Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25GBA-K144Rhet unknown0.619Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25RNF39-A304Ehet unknown0.238Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
0.25RNF39-A245Thet unknown0.025Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
0.25RNF39-S203Phet unknown0.223Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
0.25ACADS-G209Shet unknown0.128Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.993 (probably damaging), Testable gene in GeneTests
0.25RSPO4-H175Phet unknown0.016Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
0.25RSPO4-L56Shifthet unknownUnknown
Insufficiently evaluatedPrioritization score: 2
Frameshift
0.25CBR3-V244Mhet unknown0.398Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: 0.014 (benign)
0.25H19-W38Rhet unknown0.342Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25CDA-K27Qhet unknown0.190Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
0.25PINK1-A340Thet unknown0.105Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25PINK1-N521Thet unknown0.289Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25SHANK3-I245Thet unknown0.357Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25TTBK2-L8Phet unknown0.560Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25NBPF3-N112Shifthet unknownUnknown
Insufficiently evaluatedPrioritization score: 2
Frameshift
0.25NBPF3-Y114Chet unknown0.409Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: 0.998 (probably damaging)
0.25NBPF3-F429Chet unknown0.310Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.426 (possibly damaging)
0.25NBPF3-E430Ghet unknown0.306Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.25NBPF3-D444Ehet unknown0.385Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.16 (benign)
0.25CALHM1-L86Phet unknown1.000Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
0.25MSX2-M129Thet unknown0.716Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25SPG11-F463Shet unknown0.470Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25PCDH15-D440Ahet unknown0.343Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25SLC28A2-P22Lhet unknown0.248Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.25SLC28A2-S75Rhet unknown0.253Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
0.25GATM-Q110Hhet unknown0.651Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25PLOD1-A99Thet unknown0.313Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25PLOD1-A120Shet unknown0.152Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.01 (benign), Testable gene in GeneTests with associated GeneReview
0.25CDAN1-Q596Rhet unknown0.498Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25SRA1-V110RLhet unknown0.360Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25MUSK-S159Ghet unknown0.134Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.001 (benign), Testable gene in GeneTests with associated GeneReview
0.25CPT2-V368Ihet unknown0.477Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25COL6A2-S399Nhet unknown0.727Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25FKTN-R203Qhet unknown0.177Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.166 (benign), Testable gene in GeneTests with associated GeneReview
0.25COL9A1-Q621Rhet unknown0.335Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25STIL-A86Vhet unknown0.633Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25DSP-R1738Qhet unknown0.236Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.295 (possibly damaging), Testable gene in GeneTests with associated GeneReview
0.25DBH-A211Thet unknown0.115Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25CAPN3-A236Thet unknown0.323Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25ARMS2-R38*het unknown0.124Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Nonsense mutation, Testable gene in GeneTests
0.25BBS4-I354Thet unknown0.399Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25NSUN4-A32Shifthet unknownUnknown
Insufficiently evaluatedPrioritization score: 2
Frameshift
0.25NSUN4-T51Ahomozygous0.327Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.057 (benign)
0.25LMBRD1-D469Ehet unknown0.393Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.001 (benign), Testable gene in GeneTests with associated GeneReview
0.25BRF2-Y260Chet unknownUnknown
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
0.25BRF2-P259Shifthet unknownUnknown
Insufficiently evaluatedPrioritization score: 2
Frameshift
0.25FPR1-E346Ahomozygous0.800Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.25FPR1-N192Khet unknown0.516Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.25FPR1-V101Lhet unknown0.336Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.25FPR1-I11Thet unknown0.831Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
0.25TXNDC3-R43Khet unknown0.291Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25TXNDC3-I338Thet unknown0.031Unknown
benign
Low clinical importance,
uncertain
Tentatively classified as benign, but predicted to be damaging and other variants in this gene are implicated in causing primary ciliary dyskinesia (situs inversus, chronic sinusitis, and bronchiectasis).
0.25TXNDC3-I493Thet unknown0.289Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.074 (benign), Testable gene in GeneTests with associated GeneReview
0.25NPSR1-N107Ihet unknown0.462Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown
0.25NPSR1-Q344Rhomozygous0.309Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.25DNAI2-V495Ihet unknown0.258Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25DNAI2-A558Thet unknown0.674Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25STXBP2-I526Vhet unknown0.725Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25CPS1-T344Ahet unknown0.583Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.302 (possibly damaging), Testable gene in GeneTests with associated GeneReview
0.25LRRC50-K393Rhet unknown0.321Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.683 (possibly damaging), Testable gene in GeneTests with associated GeneReview
0.25LRRC50-P502Lhet unknown0.272Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.005 (benign), Testable gene in GeneTests with associated GeneReview
0.25LRRC50-L633Shet unknown0.261Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25LRRC50-L659Phet unknown0.352Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25LRRC50-S675Thet unknown0.363Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.001 (benign), Testable gene in GeneTests with associated GeneReview
0.25SLCO1B3-S112Ahet unknown0.646Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
0.25SLCO1B3-M233Ihet unknown0.659Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: 0.131 (benign)
0.25AOX1-N1135Shet unknown0.195Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
0.25ELN-G422Shet unknown0.225Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25AK298931-E88Qhet unknownUnknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
0.25AK298931-W38*het unknownUnknown
Insufficiently evaluatedPrioritization score: 2
Nonsense mutation
0.25AK298931-T4Shet unknownUnknown
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
0.25C17orf54-A146Thet unknownUnknown
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
0.25C17orf54-C131Shet unknownUnknown
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
0.25C17orf54-L161Shifthet unknownUnknown
Insufficiently evaluatedPrioritization score: 2
Frameshift
0.25C17orf54-L161Shifthet unknownUnknown
Insufficiently evaluatedPrioritization score: 2
Frameshift
0.25COL4A4-S1400Phet unknown0.504Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25COL4A4-V1327Mhet unknown0.464Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25COL4A3-G43Rhet unknown0.239Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25COL4A3-L141Phet unknown0.760Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25COL4A3-E162Ghet unknown0.764Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25COL4A3-D326Yhet unknown0.203Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25PLG-D472Nhet unknown0.151Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
0.25KRT6C-R182Qhet unknown0.281Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.805 (possibly damaging), Testable gene in GeneTests with associated GeneReview
0.25AIPL1-D90Hhet unknown0.210Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.029 (benign), Testable gene in GeneTests with associated GeneReview
0.25SOD2-V16Ahet unknown0.362Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
0.25MLH1-I219Vhet unknown0.124Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.003 (benign), Testable gene in GeneTests with associated GeneReview
0.25PARK2-V380Lhet unknown0.169Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25ABCG2-V12Mhet unknown0.122Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
0.25CLN5-K368Rhet unknown0.283Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25ATG16L1-T300Ahet unknown0.347Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown
0.25ZFR2-L678Shifthet unknownUnknown
Insufficiently evaluatedPrioritization score: 2
Frameshift
0.25ZFR2-A577Thet unknown0.391Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.005 (benign)
0.25ZFR2-V210Lhet unknown0.389Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.55 (possibly damaging)
0.25ZFR2-S164Lhet unknown0.387Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.011 (benign)
0.25ATP7B-V1140Ahet unknown0.495Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25ATP7B-R952Khet unknown0.481Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25ATP7B-K832Rhet unknown0.455Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.461 (possibly damaging), Testable gene in GeneTests with associated GeneReview
0.25ATP7B-V456Lhet unknown0.360Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.006 (benign), Testable gene in GeneTests with associated GeneReview
0.25ATP7B-S406Ahet unknown0.355Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.001 (benign), Testable gene in GeneTests with associated GeneReview
0.25CHRNB1-E32Ghet unknown0.172Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.288 (possibly damaging), Testable gene in GeneTests with associated GeneReview
0.25RPGRIP1-K192Ehet unknown0.446Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25RPGRIP1-A547Shet unknown0.164Complex/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.
0.25RPGRIP1-E1033Qhet unknown0.256Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25PON1-L55Mhet unknown0.230Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown
0.25MYO7A-L16Shet unknown0.550Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25FIG4-V654Ahet unknown0.467Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25DRD3-G9Shet unknown0.482Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
0.25CD3EAP-K428Delhet unknownUnknown
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
0.25CD3EAP-Q504Khet unknown0.284Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: 0.002 (benign)
0.25SLC30A9-L5*het unknownUnknown
Insufficiently evaluatedPrioritization score: 2
Nonsense mutation
0.25SLC30A9-M50Vhomozygous0.555Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.002 (benign)
0.25SLC30A9-T97Ahomozygous0.987Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.25XYLT2-R305Thet unknown0.125Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.25XYLT2-T801Rhet unknown0.225Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown
0.25MMAB-M239Khet unknown0.469Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25MMAB-R19Qhet unknown0.283Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25OPRM1-N40Dhet unknown0.204Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.25OPRM1-Q402Hhomozygous0.882Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.25OPRM1-Y419Chet unknown0.008Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
0.25CHRNA2-T125Ahet unknown0.644Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25TLR5-F822Lhomozygous1.000Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.25TLR5-N592Shet unknown0.211Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown
0.25SPATA7-D2Nhet unknown0.155Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.665 (possibly damaging), Testable gene in GeneTests with associated GeneReview
0.25SFTPC-T138Nhet unknown0.172Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25SFTPC-S186Nhet unknown0.222Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25MUT-I671Vhet unknown0.522Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25MUT-R532Hhet unknown0.238Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25EYA4-G277Shet unknown0.467Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.697 (possibly damaging), Testable gene in GeneTests with associated GeneReview
0.25SCN1A-A1056Thet unknown0.806Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25ABCB11-V444Ahet unknown0.606Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.002 (benign), Testable gene in GeneTests with associated GeneReview
0.25UGT2B7-Y268Hhet unknown0.727Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
0.25ITGA6-A380Thet unknown0.253Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25MYH6-V1101Ahet unknown0.422Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25SNX19-L878Rhet unknown0.808Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
0.25SNX19-N753Shet unknown0.617Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.25SNX19-L618Fhomozygous0.994Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.25SNX19-P480Lhet unknown0.151Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: 0.977 (probably damaging)
0.25SNX19-S407Ghet unknown0.202Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.25SNX19-D396Ehet unknown0.151Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.25SNX19-G381Shet unknown0.151Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.001 (benign)
0.25SNX19-V361Lhet unknown0.671Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.25DL492456-R148Hhet unknownUnknown
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
0.25DL492456-Y109ChomozygousUnknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
0.25DL492456-W104*het unknownUnknown
Insufficiently evaluatedPrioritization score: 2
Nonsense mutation
0.25CYP2B6-K262Rhet unknown0.298Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
0.25MCEE-R104Lhet unknown0.194Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.003 (benign), Testable gene in GeneTests with associated GeneReview
0.25NR_002144-DDDFE68Delhet unknownUnknown
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
0.25NR_002144-SE75Phet unknownUnknown
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
0.25NR_002144-L77Shifthet unknownUnknown
Insufficiently evaluatedPrioritization score: 2
Frameshift
0.25NR_002144-Q280Rhomozygous0.858Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.25NR_002144-Y307Hhomozygous0.858Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.25NR_002144-L312Rhomozygous0.856Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.25BBS12-R386Qhet unknown0.515Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.009 (benign), Testable gene in GeneTests with associated GeneReview
0.25DPAGT1-I393Vhet unknown0.431Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview

Input file format: CGIVAR

Genome build: b37

Genome coverage: 2,778,671,235 bases (97.2% of callable positions, 90.2% of total positions)

Coding region coverage: 32,147,548 bases (96.6% of all genes, 97.6% 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

Gene search

"GENE" or "GENE A123C":

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