"Ambry Genetics"[submitter] AND "USH2A"[gene] - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 2482240	NM_206933.4(USH2A):c.15583A>G (p.Thr5195Ala)	USH2A (T5195A)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2338494	NM_206933.4(USH2A):c.15559T>A (p.Phe5187Ile)	USH2A (F5187I)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 2163016	NM_206933.4(USH2A):c.15479A>G (p.Asn5160Ser)	USH2A (N5160S)	Single nucleotide variant (missense variant)	not provided +3 more	GUncertain significance
Select item 3187064	NM_206933.4(USH2A):c.15376A>T (p.Ile5126Phe)	USH2A (I5126F)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 166414	NM_206933.4(USH2A):c.15374G>A (p.Arg5125His)	USH2A (R5125H)	Single nucleotide variant (missense variant)	not specified +2 more	GConflicting classifications of pathogenicity
Select item 1484122	NM_206933.4(USH2A):c.15346C>T (p.Arg5116Cys)	USH2A (R5116C)	Single nucleotide variant (missense variant)	Usher syndrome type 2A +3 more	GUncertain significance
Select item 1017509	NM_206933.4(USH2A):c.15343A>G (p.Ile5115Val)	USH2A (I5115V)	Single nucleotide variant (missense variant)	not provided +3 more	GUncertain significance
Select item 3187063	NM_206933.4(USH2A):c.15313A>G (p.Lys5105Glu)	USH2A (K5105E)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 1989865	NM_206933.4(USH2A):c.15118G>A (p.Glu5040Lys)	USH2A (E5040K)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 2173643	NM_206933.4(USH2A):c.15001G>A (p.Glu5001Lys)	USH2A (E5001K)	Single nucleotide variant (missense variant)	Inborn genetic diseases +3 more	GUncertain significance
Select item 1983713	NM_206933.4(USH2A):c.14912G>A (p.Arg4971Gln)	USH2A (R4971Q)	Single nucleotide variant (missense variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 2536096	NM_206933.4(USH2A):c.14866C>T (p.Leu4956Phe)	USH2A (L4956F)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GLikely benign
Select item 2486017	NM_206933.4(USH2A):c.14767A>G (p.Ile4923Val)	USH2A (I4923V)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2238244	NM_206933.4(USH2A):c.14699A>G (p.Gln4900Arg)	USH2A (Q4900R)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 521389	NM_206933.4(USH2A):c.14698C>T (p.Gln4900Ter)	USH2A (Q4900*)	Single nucleotide variant (nonsense)	not provided +2 more	GPathogenic/Likely pathogenic
Select item 179174	NM_206933.4(USH2A):c.14602G>A (p.Val4868Met)	USH2A (V4868M)	Single nucleotide variant (missense variant)	Inborn genetic diseases +2 more	GConflicting classifications of pathogenicity
Select item 2361662	NM_206933.4(USH2A):c.14533G>A (p.Ala4845Thr)	USH2A (A4845T)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 972620	NM_206933.4(USH2A):c.14398A>G (p.Asn4800Asp)	USH2A (N4800D)	Single nucleotide variant (missense variant)	Usher syndrome type 2A +3 more	GUncertain significance
Select item 1513938	NM_206933.4(USH2A):c.14380G>A (p.Gly4794Ser)	USH2A (G4794S)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 866070	NM_206933.4(USH2A):c.14369A>C (p.Gln4790Pro)	USH2A (Q4790P)	Single nucleotide variant (missense variant)	Retinitis pigmentosa 39 +3 more	GConflicting classifications of pathogenicity
Select item 2269522	NM_206933.4(USH2A):c.14322C>A (p.Ser4774Arg)	USH2A (S4774R)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2154079	NM_206933.4(USH2A):c.14293G>A (p.Val4765Ile)	USH2A (V4765I)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GConflicting classifications of pathogenicity
Select item 2155703	NM_206933.4(USH2A):c.14275G>A (p.Gly4759Arg)	USH2A (G4759R)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GConflicting classifications of pathogenicity
Select item 2609973	NM_206933.4(USH2A):c.14269G>A (p.Ala4757Thr)	USH2A (A4757T)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2229298	NM_206933.4(USH2A):c.14261A>C (p.Asn4754Thr)	USH2A (N4754T)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2613936	NM_206933.4(USH2A):c.14232T>A (p.His4744Gln)	USH2A (H4744Q)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2569967	NM_206933.4(USH2A):c.14210G>T (p.Gly4737Val)	USH2A (G4737V)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2163684	NM_206933.4(USH2A):c.14054A>T (p.Asn4685Ile)	USH2A (N4685I)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 2270351	NM_206933.4(USH2A):c.13814A>G (p.Tyr4605Cys)	USH2A (Y4605C)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2463898	NM_206933.4(USH2A):c.13660C>T (p.Pro4554Ser)	USH2A (P4554S)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 833910	NM_206933.4(USH2A):c.13568T>C (p.Val4523Ala)	USH2A (V4523A)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GLikely benign
Select item 2834877	NM_206933.4(USH2A):c.13553T>C (p.Ile4518Thr)	USH2A (I4518T)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 2272398	NM_206933.4(USH2A):c.13529C>A (p.Thr4510Asn)	USH2A (T4510N)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 1044470	NM_206933.4(USH2A):c.13423A>G (p.Arg4475Gly)	USH2A (R4475G)	Single nucleotide variant (missense variant)	not provided +3 more	GUncertain significance
Select item 3187061	NM_206933.4(USH2A):c.13376C>T (p.Ser4459Leu)	USH2A (S4459L)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2528521	NM_206933.4(USH2A):c.13352C>T (p.Thr4451Ile)	USH2A (T4451I)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2302278	NM_206933.4(USH2A):c.13278T>A (p.Asn4426Lys)	USH2A (N4426K)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2276405	NM_206933.4(USH2A):c.13198G>A (p.Ala4400Thr)	USH2A (A4400T)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3187060	NM_206933.4(USH2A):c.13162A>G (p.Lys4388Glu)	USH2A (K4388E)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 841656	NM_206933.4(USH2A):c.13133C>T (p.Pro4378Leu)	USH2A (P4378L)	Single nucleotide variant (missense variant)	Inborn genetic diseases +4 more	GConflicting classifications of pathogenicity
Select item 2250659	NM_206933.4(USH2A):c.13120G>A (p.Val4374Ile)	USH2A (V4374I)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3187059	NM_206933.4(USH2A):c.12979T>G (p.Ser4327Ala)	USH2A (S4327A)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 667356	NM_206933.4(USH2A):c.12897G>T (p.Arg4299Ser)	USH2A (R4299S)	Single nucleotide variant (missense variant)	Usher syndrome type 2A +4 more	GUncertain significance
Select item 48404	NM_206933.4(USH2A):c.12667T>C (p.Phe4223Leu)	USH2A (F4223L)	Single nucleotide variant (missense variant)	not provided +4 more	GUncertain significance
Select item 504700	NM_206933.4(USH2A):c.12625G>A (p.Glu4209Lys)	USH2A (E4209K)	Single nucleotide variant (missense variant)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 178573	NM_206933.4(USH2A):c.12598T>G (p.Trp4200Gly)	USH2A (W4200G)	Single nucleotide variant (missense variant)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 2272759	NM_206933.4(USH2A):c.12214T>C (p.Phe4072Leu)	USH2A (F4072L)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2174631	NM_206933.4(USH2A):c.12199A>C (p.Ser4067Arg)	USH2A (S4067R)	Single nucleotide variant (missense variant)	not provided +3 more	GUncertain significance
Select item 290980	NM_206933.4(USH2A):c.12128T>G (p.Val4043Gly)	USH2A (V4043G)	Single nucleotide variant (missense variant)	Retinitis pigmentosa 39 +3 more	GUncertain significance
Select item 2198654	NM_206933.4(USH2A):c.12118C>T (p.Arg4040Cys)	USH2A (R4040C)	Single nucleotide variant (missense variant)	Retinitis pigmentosa 39 +3 more	GUncertain significance
Select item 870920	NM_206933.4(USH2A):c.12112A>G (p.Thr4038Ala)	USH2A (T4038A)	Single nucleotide variant (missense variant)	not provided +3 more	GUncertain significance
Select item 2326714	NM_206933.4(USH2A):c.12050A>G (p.His4017Arg)	USH2A (H4017R)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2199199	NM_206933.4(USH2A):c.11996G>A (p.Arg3999His)	USH2A (R3999H)	Single nucleotide variant (missense variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 2259778	NM_206933.4(USH2A):c.11846G>T (p.Gly3949Val)	USH2A (G3949V)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 178575	NM_206933.4(USH2A):c.11734G>A (p.Glu3912Lys)	USH2A (E3912K)	Single nucleotide variant (missense variant)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 521388	NM_206933.4(USH2A):c.11537C>T (p.Ala3846Val)	USH2A (A3846V)	Single nucleotide variant (missense variant)	Inborn genetic diseases +2 more	GUncertain significance
Select item 594997	NM_206933.4(USH2A):c.11506C>T (p.Pro3836Ser)	USH2A (P3836S)	Single nucleotide variant (missense variant)	Inborn genetic diseases +3 more	GUncertain significance
Select item 281728	NM_206933.4(USH2A):c.11467G>A (p.Val3823Ile)	USH2A (V3823I)	Single nucleotide variant (missense variant)	not specified +4 more	GConflicting classifications of pathogenicity
Select item 844286	NM_206933.4(USH2A):c.11382A>G (p.Ile3794Met)	USH2A (I3794M)	Single nucleotide variant (missense variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 2247600	NM_206933.4(USH2A):c.11372T>G (p.Val3791Gly)	USH2A (V3791G)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2307695	NM_206933.4(USH2A):c.11360A>C (p.Tyr3787Ser)	USH2A (Y3787S)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3187057	NM_206933.4(USH2A):c.11187T>A (p.Ser3729Arg)	USH2A (S3729R)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 1381557	NM_206933.4(USH2A):c.11127T>G (p.Asn3709Lys)	USH2A (N3709K)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 1435853	NM_206933.4(USH2A):c.11089A>G (p.Thr3697Ala)	USH2A (T3697A)	Single nucleotide variant (missense variant)	Retinitis pigmentosa 39 +3 more	GUncertain significance
Select item 1359418	NM_206933.4(USH2A):c.11074A>G (p.Ile3692Val)	USH2A (I3692V)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 1448956	NM_206933.4(USH2A):c.11072T>A (p.Ile3691Asn)	USH2A (I3691N)	Single nucleotide variant (missense variant)	Usher syndrome type 2A +3 more	GUncertain significance
Select item 2217063	NM_206933.4(USH2A):c.10904C>G (p.Thr3635Ser)	USH2A (T3635S)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 941952	NM_206933.4(USH2A):c.10834G>A (p.Val3612Ile)	USH2A (V3612I)	Single nucleotide variant (missense variant)	Usher syndrome type 2 +4 more	GUncertain significance
Select item 177745	NM_206933.4(USH2A):c.10826G>T (p.Ser3609Ile)	USH2A (S3609I)	Single nucleotide variant (missense variant)	not specified +2 more	GConflicting classifications of pathogenicity
Select item 3187056	NM_206933.4(USH2A):c.10742T>C (p.Val3581Ala)	USH2A (V3581A)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3187055	NM_206933.4(USH2A):c.10604T>A (p.Ile3535Asn)	USH2A (I3535N)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 1139386	NM_206933.4(USH2A):c.10487A>C (p.Glu3496Ala)	USH2A (E3496A)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GConflicting classifications of pathogenicity
Select item 1056394	NM_206933.4(USH2A):c.10423A>G (p.Arg3475Gly)	USH2A (R3475G)	Single nucleotide variant (missense variant)	not provided +3 more	GUncertain significance
Select item 520635	NM_206933.4(USH2A):c.10403C>T (p.Pro3468Leu)	USH2A (P3468L)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GLikely pathogenic
Select item 598477	NM_206933.4(USH2A):c.10256_10262delinsCATTTGCACTGTGCAGTGA (p.Asn3419_Thr3421delinsThrPheAlaLeuCysSerAsp)	USH2A	Indel (inframe_indel)	Usher syndrome type 2A +3 more	GUncertain significance
Select item 2241729	NM_206933.4(USH2A):c.10240G>A (p.Gly3414Ser)	USH2A (G3414S)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2416796	NM_206933.4(USH2A):c.10194G>T (p.Glu3398Asp)	USH2A (E3398D)	Single nucleotide variant (missense variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 229613	NM_206933.4(USH2A):c.10175T>A (p.Met3392Lys)	USH2A (M3392K)	Single nucleotide variant (missense variant)	Usher syndrome type 2A +4 more	GUncertain significance
Select item 2302414	NM_206933.4(USH2A):c.10162T>C (p.Ser3388Pro)	USH2A (S3388P)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 1082867	NM_206933.4(USH2A):c.10116T>A (p.Asn3372Lys)	USH2A (N3372K)	Single nucleotide variant (missense variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 855834	NM_206933.4(USH2A):c.10093C>G (p.Pro3365Ala)	USH2A (P3365A)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 2262385	NM_206933.4(USH2A):c.10030T>C (p.Ser3344Pro)	USH2A (S3344P)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 506276	NM_206933.4(USH2A):c.10013C>T (p.Ser3338Leu)	USH2A (S3338L)	Single nucleotide variant (missense variant)	not specified +3 more	GUncertain significance
Select item 866220	NM_206933.4(USH2A):c.9998A>G (p.Asp3333Gly)	USH2A (D3333G)	Single nucleotide variant (missense variant)	Retinitis pigmentosa 39 +3 more	GUncertain significance
Select item 1707966	NM_206933.4(USH2A):c.9773G>A (p.Arg3258Gln)	USH2A (R3258Q)	Single nucleotide variant (missense variant)	not provided +3 more	GUncertain significance
Select item 2240405	NM_206933.4(USH2A):c.9762A>C (p.Glu3254Asp)	USH2A (E3254D)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2305416	NM_206933.4(USH2A):c.9745G>C (p.Val3249Leu)	USH2A (V3249L)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 1009270	NM_206933.4(USH2A):c.9695C>A (p.Pro3232Gln)	USH2A (P3232Q)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 179749	NM_206933.4(USH2A):c.9688G>A (p.Ala3230Thr)	USH2A (A3230T)	Single nucleotide variant (missense variant)	not specified +3 more	GConflicting classifications of pathogenicity
Select item 967999	NM_206933.4(USH2A):c.9583G>A (p.Gly3195Arg)	USH2A (G3195R)	Single nucleotide variant (missense variant)	Inborn genetic diseases +3 more	GUncertain significance
Select item 1416761	NM_206933.4(USH2A):c.9549T>G (p.Ile3183Met)	USH2A (I3183M)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 2485208	NM_206933.4(USH2A):c.9527C>A (p.Pro3176His)	USH2A (P3176H)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 48626	NM_206933.4(USH2A):c.9424G>T (p.Gly3142Ter)	USH2A (G3142*)	Single nucleotide variant (nonsense)	Usher syndrome +7 more	GPathogenic/Likely pathogenic
Select item 3187083	NM_206933.4(USH2A):c.9362T>A (p.Ile3121Asn)	USH2A (I3121N)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 596472	NM_206933.4(USH2A):c.9291A>C (p.Lys3097Asn)	USH2A (K3097N)	Single nucleotide variant (missense variant)	not provided +3 more	GUncertain significance
Select item 2269523	NM_206933.4(USH2A):c.9275T>C (p.Ile3092Thr)	USH2A (I3092T)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2324827	NM_206933.4(USH2A):c.9181C>A (p.Leu3061Ile)	USH2A (L3061I)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 967723	NM_206933.4(USH2A):c.9156G>C (p.Glu3052Asp)	USH2A (E3052D)	Single nucleotide variant (missense variant)	Inborn genetic diseases +3 more	GUncertain significance
Select item 1044471	NM_206933.4(USH2A):c.9095A>G (p.Asn3032Ser)	USH2A (N3032S)	Single nucleotide variant (missense variant)	not provided +3 more	GUncertain significance
Select item 520580	NM_206933.4(USH2A):c.9055+1del	USH2A	Deletion (splice donor variant)	Usher syndrome type 2A +2 more	GPathogenic/Likely pathogenic

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