ClinVar Miner

List of variants in gene EYS reported as pathogenic

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Total variants: 73
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HGVS dbSNP
EYS, 1-BP DEL, 6714T
NC_000006.11:g.(?_65327301)_(65327436_?)del
NC_000006.11:g.(?_65611996)_(65655817_?)del
NC_000006.11:g.(?_66094269)_(66094403_?)del
NM_001142800.1(EYS):c.(2023+1_2024-1)_(3443+1_3444-1)del
NM_001142800.1(EYS):c.(2137+1_2138-1)_(2259+1_2260-1)dup
NM_001142800.1(EYS):c.(3243+1_3244-1)_(3443+1_3444-1)dup
NM_001142800.1(EYS):c.(6078+1_6079-1)_(6191+1_6192-1)dup
NM_001142800.1(EYS):c.(6424+1_6425-1)_(6571+1_6572-1)del
NM_001142800.1(EYS):c.(748+1_749-1)_(1299+1_1300-1)del
NM_001142800.1(EYS):c.2260-51191_2992+45990del
NM_001142800.1(EYS):c.[3906C>A;9405T>A]
NM_001142800.1:c.(2023+1_2024-1)_(3443+1_3444-1)del
NM_001142800.2(EYS):c.103C>T (p.Gln35Ter)
NM_001142800.2(EYS):c.1155T>A (p.Cys385Ter) rs143994166
NM_001142800.2(EYS):c.1161del (p.Lys387fs) rs1562154478
NM_001142800.2(EYS):c.1426C>T (p.Gln476Ter)
NM_001142800.2(EYS):c.1499dup (p.Tyr500Ter) rs1562109990
NM_001142800.2(EYS):c.1673G>A (p.Trp558Ter) rs201823777
NM_001142800.2(EYS):c.2055T>A (p.Cys685Ter) rs372354156
NM_001142800.2(EYS):c.2194C>T (p.Gln732Ter) rs794727120
NM_001142800.2(EYS):c.2259+1G>A rs752736741
NM_001142800.2(EYS):c.232del (p.Cys78fs)
NM_001142800.2(EYS):c.2380C>T (p.Arg794Ter)
NM_001142800.2(EYS):c.2620C>T (p.Gln874Ter) rs760798455
NM_001142800.2(EYS):c.2710_2726del (p.Asp904fs) rs878853253
NM_001142800.2(EYS):c.2811C>A (p.Cys937Ter) rs1466666397
NM_001142800.2(EYS):c.3443+1G>T rs373441420
NM_001142800.2(EYS):c.361del (p.Glu121fs)
NM_001142800.2(EYS):c.3775C>T (p.Gln1259Ter) rs1291867456
NM_001142800.2(EYS):c.4116_4117insGC (p.Ile1373fs)
NM_001142800.2(EYS):c.4350_4356del (p.Ile1451fs) rs761238771
NM_001142800.2(EYS):c.4608_4609GA[1] (p.Arg1537fs) rs886042613
NM_001142800.2(EYS):c.4825_4828CATT[1] (p.Ser1610fs) rs886044304
NM_001142800.2(EYS):c.490C>T (p.Arg164Ter) rs794727631
NM_001142800.2(EYS):c.4957dup (p.Ser1653fs) rs527236065
NM_001142800.2(EYS):c.5167_5168del (p.Leu1723fs) rs1562079314
NM_001142800.2(EYS):c.5243T>A (p.Leu1748Ter)
NM_001142800.2(EYS):c.5857G>T (p.Glu1953Ter) rs137853189
NM_001142800.2(EYS):c.5928-2A>G rs181169439
NM_001142800.2(EYS):c.6050G>T (p.Gly2017Val)
NM_001142800.2(EYS):c.6079_6191del (p.Met2027Ilefs)
NM_001142800.2(EYS):c.6102del (p.Phe2034fs)
NM_001142800.2(EYS):c.6229_6238del (p.Val2077fs) rs1554220416
NM_001142800.2(EYS):c.6269G>A (p.Trp2090Ter) rs1562263385
NM_001142800.2(EYS):c.6416G>A (p.Cys2139Tyr) rs749909863
NM_001142800.2(EYS):c.6528C>A (p.Tyr2176Ter) rs797045089
NM_001142800.2(EYS):c.6557G>A (p.Gly2186Glu) rs527236068
NM_001142800.2(EYS):c.6591_6594del (p.Lys2198fs)
NM_001142800.2(EYS):c.6714del (p.Ile2239fs) rs752953889
NM_001142800.2(EYS):c.6791dup (p.Pro2265fs)
NM_001142800.2(EYS):c.6794del (p.Pro2265fs) rs758109813
NM_001142800.2(EYS):c.7095T>G (p.Tyr2365Ter) rs398123575
NM_001142800.2(EYS):c.7228+1G>A
NM_001142800.2(EYS):c.7422_7423del (p.Gly2474_Asp2475insTer) rs1554169630
NM_001142800.2(EYS):c.7654del (p.Tyr2551_Val2552insTer) rs1064796020
NM_001142800.2(EYS):c.7793G>A (p.Gly2598Asp) rs527236064
NM_001142800.2(EYS):c.7919G>A (p.Trp2640Ter) rs527236066
NM_001142800.2(EYS):c.8111T>G (p.Leu2704Ter) rs779983752
NM_001142800.2(EYS):c.8314del (p.Thr2772fs) rs1561994347
NM_001142800.2(EYS):c.8408dup (p.Asn2803fs) rs398123576
NM_001142800.2(EYS):c.8411dup (p.Thr2805fs) rs763028732
NM_001142800.2(EYS):c.8545C>T (p.Arg2849Ter) rs1326635278
NM_001142800.2(EYS):c.8648_8655del (p.Thr2883fs) rs528919874
NM_001142800.2(EYS):c.8793_8796del (p.Gln2931fs) rs1554163919
NM_001142800.2(EYS):c.8805C>A (p.Tyr2935Ter) rs527236067
NM_001142800.2(EYS):c.881C>G (p.Ser294Ter) rs752683070
NM_001142800.2(EYS):c.8830del (p.Val2944fs) rs776526721
NM_001142800.2(EYS):c.9036del (p.Leu3013fs)
NM_001142800.2(EYS):c.9186_9187del (p.Asn3062fs) rs886044149
NM_001142800.2(EYS):c.9209T>C (p.Ile3070Thr) rs183589498
NM_001142800.2(EYS):c.9286_9295del (p.Val3096fs) rs770748359
NM_001142800.2(EYS):c.9405T>A (p.Tyr3135Ter) rs137853190

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