ClinVar Miner

List of variants in gene USH2A reported as likely pathogenic for not provided

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Gene type:
ClinVar version:
Total variants: 137
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HGVS dbSNP
GRCh37/hg19 1q41(chr1:216173745-216500996)x1
GRCh37/hg19 1q41(chr1:216260061-216270555)x1
GRCh37/hg19 1q41(chr1:216462622-216465712)x1
NC_000001.10:g.(?_215802146)_(215808055_?)dup
NC_000001.10:g.(?_215807801)_(215808045_?)del
NC_000001.10:g.(?_215967783)_(215972477_?)del
NC_000001.10:g.(?_216049419_216051126del
NC_000001.10:g.(?_216107948)_(216138831_?)dup
NC_000001.10:g.(?_216108028)_(216110946_?)del
NC_000001.10:g.(?_216219884_216227803del
NC_000001.10:g.(?_216363565)_(216373463_?)del
NC_000001.10:g.(?_216372959)_(216373473_?)del
NC_000001.10:g.(?_216591882_216592022del
NC_000001.11:g.(?_215766671)_(215934805_?)del
NC_000001.11:g.(?_215798897)_(215799135_?)del
NM_007123.5(USH2A):c.3812-3_3837dup rs780071028
NM_206933.2(USH2A):c.10974_10975dup(p.Thr3659Ilefs) rs1064797133
NM_206933.3(USH2A):c.10342G>A (p.Glu3448Lys) rs368049814
NM_206933.3(USH2A):c.10385C>T (p.Thr3462Ile) rs1416602859
NM_206933.3(USH2A):c.10571C>A (p.Pro3524His) rs1064793288
NM_206933.3(USH2A):c.10657G>A (p.Asp3553Asn) rs910086490
NM_206933.3(USH2A):c.10741-1G>T rs1064795279
NM_206933.3(USH2A):c.10859T>C (p.Ile3620Thr) rs779716464
NM_206933.3(USH2A):c.11047+1G>A rs201730567
NM_206933.3(USH2A):c.11389+1G>A rs368770647
NM_206933.3(USH2A):c.11713C>T (p.Arg3905Cys) rs368675850
NM_206933.3(USH2A):c.12268C>A (p.Pro4090Thr) rs780893919
NM_206933.3(USH2A):c.12284G>A (p.Gly4095Asp) rs759898765
NM_206933.3(USH2A):c.12448A>G (p.Thr4150Ala) rs1172628170
NM_206933.3(USH2A):c.12580T>C (p.Cys4194Arg) rs769001387
NM_206933.3(USH2A):c.13331C>T (p.Pro4444Leu) rs762388072
NM_206933.3(USH2A):c.13335_13347delinsCTTG (p.Glu4445_Ser4449delinsAspLeu) rs1553252388
NM_206933.3(USH2A):c.13339A>G (p.Met4447Val) rs139474806
NM_206933.3(USH2A):c.1390C>T (p.Arg464Cys) rs1423536179
NM_206933.3(USH2A):c.1391G>A (p.Arg464His) rs771000800
NM_206933.3(USH2A):c.14020A>G (p.Arg4674Gly) rs80338904
NM_206933.3(USH2A):c.14219C>A (p.Ala4740Asp) rs539192853
NM_206933.3(USH2A):c.14426C>T (p.Thr4809Ile) rs770553471
NM_206933.3(USH2A):c.14792-2A>G rs137853923
NM_206933.3(USH2A):c.15017C>T (p.Thr5006Met) rs757676723
NM_206933.3(USH2A):c.15267_15275delinsC (p.Leu5089fs) rs1553248812
NM_206933.3(USH2A):c.15353del (p.Asn5118fs) rs1553248224
NM_206933.3(USH2A):c.15520-1G>A rs767265734
NM_206933.3(USH2A):c.1729T>C (p.Cys577Arg) rs1553327470
NM_206933.3(USH2A):c.1972-1G>A rs372927796
NM_206933.3(USH2A):c.2081G>A (p.Cys694Tyr) rs137954284
NM_206933.3(USH2A):c.2231G>A (p.Cys744Tyr) rs751035557
NM_206933.3(USH2A):c.2384G>A (p.Cys795Tyr) rs776202248
NM_206933.3(USH2A):c.3221G>A (p.Trp1074Ter) rs1064797138
NM_206933.3(USH2A):c.3959C>A (p.Pro1320His) rs771924569
NM_206933.3(USH2A):c.4397-1G>A rs199982344
NM_206933.3(USH2A):c.4429G>T (p.Gly1477Ter) rs786205452
NM_206933.3(USH2A):c.486-1_625del rs1571801564
NM_206933.3(USH2A):c.4886-1G>A rs1553300340
NM_206933.3(USH2A):c.490G>T (p.Val164Phe) rs527236123
NM_206933.3(USH2A):c.5118G>A (p.Trp1706Ter) rs1461319754
NM_206933.3(USH2A):c.5167+1G>C rs794727408
NM_206933.3(USH2A):c.5167+1G>T rs794727408
NM_206933.3(USH2A):c.5614delinsTTAAGTTGGCAT (p.Ala1872fs) rs869312180
NM_206933.3(USH2A):c.5777-2A>C rs1064797136
NM_206933.3(USH2A):c.5877del (p.Ser1961fs) rs727505343
NM_206933.3(USH2A):c.6050-1G>A rs1035024403
NM_206933.3(USH2A):c.6050-2A>G rs772124060
NM_206933.3(USH2A):c.651+1G>A rs1553257761
NM_206933.3(USH2A):c.6722C>T (p.Pro2241Leu) rs1057518826
NM_206933.3(USH2A):c.6937G>T (p.Gly2313Cys) rs199840367
NM_206933.3(USH2A):c.7595-2A>G rs1064795047
NM_206933.3(USH2A):c.7595-3C>G rs201657446
NM_206933.3(USH2A):c.8522G>A (p.Trp2841Ter) rs1064797134
NM_206933.3(USH2A):c.8558+1G>T rs770383273
NM_206933.3(USH2A):c.8682-2A>C rs1553271002
NM_206933.3(USH2A):c.8682-9A>G rs372347027
NM_206933.3(USH2A):c.9048C>A (p.Cys3016Ter) rs1057519208
NM_206933.3(USH2A):c.9958G>T (p.Gly3320Cys) rs1285853856
NM_206933.4(USH2A):c.10585+3A>G
NM_206933.4(USH2A):c.10586-1G>T
NM_206933.4(USH2A):c.10939+2T>C
NM_206933.4(USH2A):c.11231+1G>C
NM_206933.4(USH2A):c.11389+2T>C
NM_206933.4(USH2A):c.11390-1G>A
NM_206933.4(USH2A):c.11473del (p.His3825fs) rs774677256
NM_206933.4(USH2A):c.12145G>A (p.Ala4049Thr) rs143696882
NM_206933.4(USH2A):c.12525G>C (p.Trp4175Cys)
NM_206933.4(USH2A):c.12575G>A (p.Arg4192His) rs199605265
NM_206933.4(USH2A):c.12874A>G (p.Asn4292Asp) rs397517984
NM_206933.4(USH2A):c.13335_13337del (p.Glu4445_Asn4446delinsAsp)
NM_206933.4(USH2A):c.13335_13343del (p.Glu4445_Met4447del) rs111033408
NM_206933.4(USH2A):c.13339A>T (p.Met4447Leu)
NM_206933.4(USH2A):c.13342_13347del (p.Asp4448_Ser4449del)
NM_206933.4(USH2A):c.13491_13499dup (p.Thr4498_Thr4500dup)
NM_206933.4(USH2A):c.14343+1G>A
NM_206933.4(USH2A):c.14344-1G>T
NM_206933.4(USH2A):c.14791+1G>A
NM_206933.4(USH2A):c.14968+2T>G
NM_206933.4(USH2A):c.15297+1G>C
NM_206933.4(USH2A):c.1531G>A (p.Glu511Lys) rs767209934
NM_206933.4(USH2A):c.176G>A (p.Gly59Glu)
NM_206933.4(USH2A):c.1966G>A (p.Asp656Asn) rs146824138
NM_206933.4(USH2A):c.1971+1G>T
NM_206933.4(USH2A):c.2276G>T (p.Cys759Phe) rs80338902
NM_206933.4(USH2A):c.2296T>C (p.Cys766Arg) rs368687374
NM_206933.4(USH2A):c.264C>A (p.Cys88Ter)
NM_206933.4(USH2A):c.2809+1G>C
NM_206933.4(USH2A):c.2809+2T>A rs1553320397
NM_206933.4(USH2A):c.3316+2T>A
NM_206933.4(USH2A):c.3408T>A (p.Ser1136Arg) rs1064793287
NM_206933.4(USH2A):c.3812-2A>G
NM_206933.4(USH2A):c.4082-1G>A
NM_206933.4(USH2A):c.4628-2A>G
NM_206933.4(USH2A):c.4885+1G>A
NM_206933.4(USH2A):c.5012G>A (p.Gly1671Asp) rs727505116
NM_206933.4(USH2A):c.5167G>A (p.Gly1723Arg)
NM_206933.4(USH2A):c.5857+2T>C rs397518022
NM_206933.4(USH2A):c.6163+1G>A
NM_206933.4(USH2A):c.652-2A>G
NM_206933.4(USH2A):c.6806-2A>G
NM_206933.4(USH2A):c.7300+1G>C
NM_206933.4(USH2A):c.7301-1G>A
NM_206933.4(USH2A):c.7451+1G>A
NM_206933.4(USH2A):c.781_784+1375del
NM_206933.4(USH2A):c.784+2T>C
NM_206933.4(USH2A):c.8224-1G>C
NM_206933.4(USH2A):c.8232G>C (p.Trp2744Cys)
NM_206933.4(USH2A):c.848+1G>T
NM_206933.4(USH2A):c.848+2T>C
NM_206933.4(USH2A):c.849-2A>G
NM_206933.4(USH2A):c.8559-1G>T
NM_206933.4(USH2A):c.8638_8641dup (p.Ser2881fs) rs1553272035
NM_206933.4(USH2A):c.8655_8681+1681del
NM_206933.4(USH2A):c.8845+2T>G
NM_206933.4(USH2A):c.956G>A (p.Cys319Tyr) rs121912599
NM_206933.4(USH2A):c.9739+1G>C
NM_206933.4(USH2A):c.9740-1G>A
NM_206933.4(USH2A):c.9885T>G (p.Cys3295Trp)
NM_206933.4(USH2A):c.993_994del (p.Arg331fs) rs1571703801
NM_206933.4(USH2A):c.9958+2T>C
NM_206933.4(USH2A):c.9959-4159A>G

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