ClinVar Miner

List of variants in gene USH2A reported as likely pathogenic for Retinal dystrophy

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Gene type:
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Total variants: 104
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HGVS dbSNP
NM_206933.3(USH2A):c.10612C>T (p.Arg3538Ter) rs878853413
NM_206933.3(USH2A):c.11048-2A>G rs200871041
NM_206933.3(USH2A):c.1111_1112del (p.Ile371fs) rs1366496013
NM_206933.3(USH2A):c.11403_11404delinsTTT (p.Glu3802fs) rs1553257707
NM_206933.3(USH2A):c.11585C>G (p.Thr3862Arg) rs886044126
NM_206933.3(USH2A):c.12284G>A (p.Gly4095Asp) rs759898765
NM_206933.3(USH2A):c.12602del (p.Gly4201fs) rs1553252499
NM_206933.3(USH2A):c.12691C>T (p.Gln4231Ter) rs1057517844
NM_206933.3(USH2A):c.12697_12698del (p.Trp4233fs) rs764917754
NM_206933.3(USH2A):c.13361T>A (p.Val4454Asp) rs148033154
NM_206933.3(USH2A):c.13466G>A (p.Gly4489Asp) rs527236127
NM_206933.3(USH2A):c.13811+1G>A rs1177257719
NM_206933.3(USH2A):c.13847G>T (p.Gly4616Val) rs527236124
NM_206933.3(USH2A):c.1391G>A (p.Arg464His) rs771000800
NM_206933.3(USH2A):c.14350G>T (p.Glu4784Ter) rs746837034
NM_206933.3(USH2A):c.14384T>G (p.Leu4795Arg) rs199851839
NM_206933.3(USH2A):c.14582+1G>C rs1553250150
NM_206933.3(USH2A):c.15200del (p.Ile5067fs) rs1295968274
NM_206933.3(USH2A):c.1558del (p.Cys520fs) rs878853410
NM_206933.3(USH2A):c.2081G>A (p.Cys694Tyr) rs137954284
NM_206933.3(USH2A):c.2168-2A>G rs993185407
NM_206933.3(USH2A):c.2231G>A (p.Cys744Tyr) rs751035557
NM_206933.3(USH2A):c.2304C>A (p.Cys768Ter) rs886039449
NM_206933.3(USH2A):c.2661C>G (p.Tyr887Ter) rs878853408
NM_206933.3(USH2A):c.3327C>A (p.Tyr1109Ter) rs758705873
NM_206933.3(USH2A):c.3558del (p.Cys1186fs) rs397518014
NM_206933.3(USH2A):c.3589del (p.Ser1197fs) rs1553313810
NM_206933.3(USH2A):c.387del (p.Phe129fs) rs1484339054
NM_206933.3(USH2A):c.4321G>T (p.Glu1441Ter) rs869312186
NM_206933.3(USH2A):c.4397-1G>A rs199982344
NM_206933.3(USH2A):c.4821G>A (p.Trp1607Ter) rs745350407
NM_206933.3(USH2A):c.4902_4908delinsTC (p.Asn1635fs) rs1558251742
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.5572+1G>A rs775293551
NM_206933.3(USH2A):c.5614delinsTTAACTTGGCAT (p.Ala1872fs) rs869312180
NM_206933.3(USH2A):c.5877del (p.Ser1961fs) rs727505343
NM_206933.3(USH2A):c.6118T>G (p.Cys2040Gly) rs878853412
NM_206933.3(USH2A):c.6159del (p.Glu2054fs) rs769838859
NM_206933.3(USH2A):c.6470del (p.Arg2157fs) rs878853414
NM_206933.3(USH2A):c.6601C>T (p.Gln2201Ter) rs794727579
NM_206933.3(USH2A):c.7932G>A (p.Trp2644Ter) rs1571783742
NM_206933.3(USH2A):c.7950dup (p.Asn2651fs) rs886041502
NM_206933.3(USH2A):c.8557A>T (p.Arg2853Ter) rs749452910
NM_206933.3(USH2A):c.9258+1G>A rs748810737
NM_206933.3(USH2A):c.9258+1G>T rs748810737
NM_206933.3(USH2A):c.9815C>T (p.Pro3272Leu) rs764182950
NM_206933.4(USH2A):c.1000C>G (p.Arg334Gly) rs397517963
NM_206933.4(USH2A):c.10183-2A>G
NM_206933.4(USH2A):c.10407C>A (p.Tyr3469Ter)
NM_206933.4(USH2A):c.10998C>A (p.Cys3666Ter)
NM_206933.4(USH2A):c.11189del (p.Glu3730fs)
NM_206933.4(USH2A):c.11336del (p.Tyr3779fs)
NM_206933.4(USH2A):c.11895del (p.Gln3966fs)
NM_206933.4(USH2A):c.11954G>A (p.Trp3985Ter) rs397517976
NM_206933.4(USH2A):c.12252del (p.Leu4085fs)
NM_206933.4(USH2A):c.12295-2A>G rs151148854
NM_206933.4(USH2A):c.12300C>A (p.Tyr4100Ter)
NM_206933.4(USH2A):c.1236G>A (p.Trp412Ter)
NM_206933.4(USH2A):c.12409del (p.Arg4137fs)
NM_206933.4(USH2A):c.1277dup (p.Asn426fs)
NM_206933.4(USH2A):c.12913del (p.Met4305fs)
NM_206933.4(USH2A):c.13133C>T (p.Pro4378Leu)
NM_206933.4(USH2A):c.13268C>A (p.Ala4423Asp)
NM_206933.4(USH2A):c.13595_13596del (p.Pro4532fs)
NM_206933.4(USH2A):c.13808A>C (p.His4603Pro) rs727504551
NM_206933.4(USH2A):c.13942_13943delinsT (p.Gly4648fs)
NM_206933.4(USH2A):c.14019C>A (p.Tyr4673Ter)
NM_206933.4(USH2A):c.14038C>T (p.Gln4680Ter)
NM_206933.4(USH2A):c.14125dup (p.Glu4709fs)
NM_206933.4(USH2A):c.1450C>T (p.Gln484Ter)
NM_206933.4(USH2A):c.14649del (p.Ile4883fs)
NM_206933.4(USH2A):c.14787del (p.Glu4930fs) rs34713174
NM_206933.4(USH2A):c.14791+5G>T
NM_206933.4(USH2A):c.14870_14901del (p.Leu4957fs)
NM_206933.4(USH2A):c.15063_15081delinsGC (p.Thr5022fs)
NM_206933.4(USH2A):c.15119_15120dup (p.Leu5041fs)
NM_206933.4(USH2A):c.15297+1G>C
NM_206933.4(USH2A):c.1550+2T>C
NM_206933.4(USH2A):c.1644+1G>A
NM_206933.4(USH2A):c.1644+2T>A
NM_206933.4(USH2A):c.1672del (p.Asp558fs)
NM_206933.4(USH2A):c.2187C>A (p.Cys729Ter)
NM_206933.4(USH2A):c.2276G>T (p.Cys759Phe) rs80338902
NM_206933.4(USH2A):c.2293del (p.Gln765fs)
NM_206933.4(USH2A):c.2649dup (p.Pro884fs)
NM_206933.4(USH2A):c.2761del (p.Leu921fs)
NM_206933.4(USH2A):c.2983_2984del (p.Gln995fs)
NM_206933.4(USH2A):c.4106C>T (p.Ser1369Leu) rs201709513
NM_206933.4(USH2A):c.4823_4835del (p.His1608fs)
NM_206933.4(USH2A):c.5573-834A>G
NM_206933.4(USH2A):c.5857+1G>C
NM_206933.4(USH2A):c.6616C>T (p.Gln2206Ter)
NM_206933.4(USH2A):c.6835G>C (p.Asp2279His)
NM_206933.4(USH2A):c.685G>C (p.Gly229Arg)
NM_206933.4(USH2A):c.6925T>G (p.Cys2309Gly)
NM_206933.4(USH2A):c.725dup (p.Ser243fs)
NM_206933.4(USH2A):c.7940del (p.Pro2647fs)
NM_206933.4(USH2A):c.8659dup (p.Tyr2887fs)
NM_206933.4(USH2A):c.8758A>G (p.Thr2920Ala)
NM_206933.4(USH2A):c.8859del (p.Gln2954fs)
NM_206933.4(USH2A):c.9307del (p.Ile3103fs)
NM_206933.4(USH2A):c.9691C>T (p.Gln3231Ter)
NM_206933.4(USH2A):c.991_992AG[1] (p.Arg331fs) rs1571703801

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