ClinVar for MedGen (Select 338513) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3775905	NM_206933.4(USH2A):c.14489C>A (p.Ser4830Ter)	USH2A (S4830*)	Single nucleotide variant (nonsense)	Usher syndrome type 2A	GLikely pathogenic
Select item 3775657	NM_206933.4(USH2A):c.7506del (p.Tyr2503fs)	USH2A (Y2503fs)	Deletion (frameshift variant)	Usher syndrome type 2A	GLikely pathogenic
Select item 3767355	NM_206933.4(USH2A):c.14133G>T (p.Gln4711His)	USH2A (Q4711H)	Single nucleotide variant (missense variant)	Usher syndrome type 2A	GPathogenic
Select item 3767139	NM_206933.4(USH2A):c.1675A>C (p.Lys559Gln)	USH2A (K559Q)	Single nucleotide variant (missense variant)	Usher syndrome type 2A +1 more	GLikely pathogenic
Select item 3764661	NM_206933.4(USH2A):c.9145del (p.Val3049fs)	USH2A (V3049fs)	Deletion (frameshift variant)	Usher syndrome type 2A +1 more	GPathogenic
Select item 3731349	NM_206933.4(USH2A):c.5866del (p.Ser1956fs)	USH2A (S1956fs)	Deletion (frameshift variant)	Usher syndrome type 2A	GLikely pathogenic
Select item 3601039	NM_206933.4(USH2A):c.9921T>A (p.Cys3307Ter)	USH2A (C3307*)	Single nucleotide variant (nonsense)	Usher syndrome type 2A	GPathogenic
Select item 3601038	NM_206933.4(USH2A):c.8224-6T>C	USH2A	Single nucleotide variant (intron variant)	Usher syndrome type 2A	GPathogenic
Select item 3601037	NM_206933.4(USH2A):c.473_474del (p.Gln158fs)	USH2A (Q158fs)	Deletion (frameshift variant)	Usher syndrome type 2A	GLikely pathogenic
Select item 3601036	NM_206933.4(USH2A):c.4213C>T (p.Gln1405Ter)	USH2A, USH2A-AS1 (Q1405*)	Single nucleotide variant (nonsense)	Usher syndrome type 2A	GPathogenic
Select item 3601035	NM_206933.4(USH2A):c.15385C>T (p.Gln5129Ter)	USH2A (Q5129*)	Single nucleotide variant (nonsense)	Usher syndrome type 2A	GLikely pathogenic
Select item 3601034	NM_206933.4(USH2A):c.14878C>T (p.Gln4960Ter)	USH2A (Q4960*)	Single nucleotide variant (nonsense)	Usher syndrome type 2A	GPathogenic
Select item 3601033	NM_206933.4(USH2A):c.14171del (p.Ser4724fs)	USH2A (S4724fs)	Deletion (frameshift variant)	Usher syndrome type 2A	GPathogenic
Select item 3601031	NM_206933.4(USH2A):c.12747del (p.Cys4250fs)	USH2A (C4250fs)	Deletion (frameshift variant)	Usher syndrome type 2A	GPathogenic
Select item 3601030	NM_206933.4(USH2A):c.12384C>A (p.Tyr4128Ter)	USH2A (Y4128*)	Single nucleotide variant (nonsense)	Usher syndrome type 2A	GPathogenic
Select item 3601029	NM_206933.4(USH2A):c.11367_11368del (p.Phe3790fs)	USH2A (F3790fs)	Microsatellite (frameshift variant)	Usher syndrome type 2A	GPathogenic
Select item 3579681	NM_206933.4(USH2A):c.298del (p.Leu100fs)	USH2A (L100fs)	Deletion (frameshift variant)	Retinitis pigmentosa 39 +1 more	GLikely pathogenic
Select item 3579629	NM_206933.4(USH2A):c.951del (p.Tyr318fs)	USH2A (Y318fs)	Deletion (frameshift variant)	Retinitis pigmentosa 39 +1 more	GLikely pathogenic
Select item 3579600	NM_206933.4(USH2A):c.1090C>T (p.Gln364Ter)	USH2A (Q364*)	Single nucleotide variant (nonsense)	Retinitis pigmentosa 39 +1 more	GLikely pathogenic
Select item 3579495	NM_206933.4(USH2A):c.1841-1G>T	USH2A	Single nucleotide variant (splice acceptor variant)	Retinitis pigmentosa 39 +1 more	GLikely pathogenic
Select item 3579399	NM_206933.4(USH2A):c.2994-1G>C	USH2A, USH2A-AS1	Single nucleotide variant (splice acceptor variant)	Retinitis pigmentosa 39 +1 more	GLikely pathogenic
Select item 3579367	NM_206933.4(USH2A):c.3334_3336delinsTGGTA (p.Asp1112fs)	USH2A, USH2A-AS1 (D1112fs)	Indel (frameshift variant)	Retinitis pigmentosa 39 +1 more	GLikely pathogenic
Select item 3579357	NM_206933.4(USH2A):c.3518C>A (p.Ser1173Ter)	USH2A, USH2A-AS1 (S1173*)	Single nucleotide variant (nonsense)	Retinitis pigmentosa 39 +1 more	GPathogenic
Select item 3579302	NM_206933.4(USH2A):c.3959del (p.Pro1320fs)	USH2A, USH2A-AS1 (P1320fs)	Deletion (frameshift variant)	Retinitis pigmentosa 39 +1 more	GLikely pathogenic
Select item 3579287	NM_206933.4(USH2A):c.4037_4038insC (p.Ser1347fs)	USH2A, USH2A-AS1 (S1347fs)	Insertion (frameshift variant)	Retinitis pigmentosa 39 +1 more	GLikely pathogenic
Select item 3579244	NM_206933.4(USH2A):c.4253del (p.Leu1418fs)	USH2A (L1418fs)	Deletion (frameshift variant)	Retinitis pigmentosa 39 +1 more	GLikely pathogenic
Select item 3579222	NM_206933.4(USH2A):c.4515_4518del (p.Arg1505fs)	USH2A (R1505fs)	Microsatellite (frameshift variant)	Retinitis pigmentosa 39 +1 more	GPathogenic
Select item 3579215	NM_206933.4(USH2A):c.4601_4604delinsGT (p.Thr1534fs)	USH2A (T1534fs)	Indel (frameshift variant)	Retinitis pigmentosa 39 +1 more	GLikely pathogenic
Select item 3579179	NM_206933.4(USH2A):c.4987G>T (p.Glu1663Ter)	USH2A, USH2A-AS2 (E1663*)	Single nucleotide variant (nonsense)	Retinitis pigmentosa 39 +1 more	GLikely pathogenic
Select item 3579171	NM_206933.4(USH2A):c.4988-1G>C	USH2A, USH2A-AS2	Single nucleotide variant (splice acceptor variant)	Retinitis pigmentosa 39 +1 more	GLikely pathogenic
Select item 3579099	NM_206933.4(USH2A):c.5759del (p.Gly1920fs)	USH2A, USH2A-AS2 (G1920fs)	Deletion (frameshift variant)	Retinitis pigmentosa 39 +1 more	GLikely pathogenic
Select item 3579072	NM_206933.4(USH2A):c.5869_5870delinsTA (p.Val1957Ter)	USH2A (V1957*)	Indel (nonsense)	Retinitis pigmentosa 39 +1 more	GLikely pathogenic
Select item 3579065	NM_206933.4(USH2A):c.5977A>G (p.Ser1993Gly)	USH2A (S1993G)	Single nucleotide variant (missense variant)	Retinitis pigmentosa 39 +1 more	GUncertain significance
Select item 3578978	NM_206933.4(USH2A):c.7082_7083del (p.His2361fs)	USH2A (H2361fs)	Microsatellite (frameshift variant)	Retinitis pigmentosa 39 +1 more	GLikely pathogenic
Select item 3578949	NM_206933.4(USH2A):c.7447del (p.Phe2482_Leu2483insTer)	USH2A	Deletion (nonsense)	Retinitis pigmentosa 39 +1 more	GLikely pathogenic
Select item 3578882	NM_206933.4(USH2A):c.8194G>C (p.Val2732Leu)	USH2A (V2732L)	Single nucleotide variant (missense variant)	Retinitis pigmentosa 39 +1 more	GUncertain significance
Select item 3578837	NM_206933.4(USH2A):c.8681G>T (p.Arg2894Met)	USH2A (R2894M)	Single nucleotide variant (missense variant)	Retinitis pigmentosa 39 +1 more	GLikely pathogenic
Select item 3578812	NM_206933.4(USH2A):c.8800_8801del (p.Ser2934fs)	USH2A (S2934fs)	Deletion (frameshift variant)	Retinitis pigmentosa 39 +1 more	GLikely pathogenic
Select item 3578803	NM_206933.4(USH2A):c.9055+2T>A	USH2A	Single nucleotide variant (splice donor variant)	Retinitis pigmentosa 39 +1 more	GLikely pathogenic
Select item 3578779	NM_206933.4(USH2A):c.10182+2T>G	USH2A	Single nucleotide variant (splice donor variant)	Retinitis pigmentosa 39 +1 more	GLikely pathogenic
Select item 3578777	NM_206933.4(USH2A):c.10350_10354del (p.Ile3451fs)	USH2A (I3451fs)	Deletion (frameshift variant)	Retinitis pigmentosa 39 +1 more	GLikely pathogenic
Select item 3578750	NM_206933.4(USH2A):c.10586-1G>A	USH2A	Single nucleotide variant (splice acceptor variant)	Retinitis pigmentosa 39 +1 more	GLikely pathogenic
Select item 3578574	NM_206933.4(USH2A):c.13598C>A (p.Ser4533Ter)	USH2A (S4533*)	Single nucleotide variant (nonsense)	Retinitis pigmentosa 39 +1 more	GLikely pathogenic
Select item 3578563	NM_206933.4(USH2A):c.14065del (p.Ile4689fs)	USH2A (I4689fs)	Deletion (frameshift variant)	Retinitis pigmentosa 39 +1 more	GPathogenic
Select item 3578557	NM_206933.4(USH2A):c.14110_14111del (p.Pro4704fs)	USH2A (P4704fs)	Deletion (frameshift variant)	Retinitis pigmentosa 39 +1 more	GLikely pathogenic
Select item 3578518	NM_206933.4(USH2A):c.14409_14437del (p.Ile4803fs)	USH2A (I4803fs)	Deletion (frameshift variant)	Retinitis pigmentosa 39 +1 more	GLikely pathogenic
Select item 3578489	NM_206933.4(USH2A):c.14969-1G>T	USH2A	Single nucleotide variant (splice acceptor variant)	Retinitis pigmentosa 39 +1 more	GLikely pathogenic
Select item 3578474	NM_206933.4(USH2A):c.15216T>A (p.Tyr5072Ter)	USH2A (Y5072*)	Single nucleotide variant (nonsense)	Retinitis pigmentosa 39 +1 more	GLikely pathogenic
Select item 3544362	NM_206933.4(USH2A):c.10663G>T (p.Glu3555Ter)	USH2A (E3555*)	Single nucleotide variant (nonsense)	Usher syndrome type 2A	GPathogenic
Select item 3393385	NM_206933.4(USH2A):c.14993C>A (p.Thr4998Lys)	USH2A (T4998K)	Single nucleotide variant (missense variant)	Usher syndrome type 2A	GUncertain significance
Select item 3382220	NM_206933.4(USH2A):c.1144-1G>A	USH2A	Single nucleotide variant (splice acceptor variant)	Retinitis pigmentosa 39 +1 more	GPathogenic
Select item 3377606	NM_206933.4(USH2A):c.868T>C (p.Ser290Pro)	USH2A (S290P)	Single nucleotide variant (missense variant)	Usher syndrome type 2A	GUncertain significance
Select item 3370415	NM_206933.4(USH2A):c.1972-1G>T	USH2A	Single nucleotide variant (splice acceptor variant)	Retinitis pigmentosa 39 +1 more	GLikely pathogenic
Select item 3370414	NM_206933.4(USH2A):c.14343+2T>G	USH2A	Single nucleotide variant (splice donor variant)	Retinitis pigmentosa 39 +1 more	GLikely pathogenic
Select item 3370413	NM_206933.4(USH2A):c.14969-1G>C	USH2A	Single nucleotide variant (splice acceptor variant)	Retinitis pigmentosa 39 +1 more	GLikely pathogenic
Select item 3358943	NM_206933.4(USH2A):c.6223del (p.Trp2075fs)	USH2A (W2075fs)	Deletion (frameshift variant)	Usher syndrome type 2A	GPathogenic
Select item 3343967	NM_206933.4(USH2A):c.1150del (p.Tyr384fs)	USH2A (Y384fs)	Deletion (frameshift variant)	Usher syndrome type 2A	GPathogenic
Select item 3338036	NM_206933.4(USH2A):c.11520T>G (p.Tyr3840Ter)	USH2A (Y3840*)	Single nucleotide variant (nonsense)	Usher syndrome type 2A	GPathogenic
Select item 3338019	NM_206933.4(USH2A):c.1546G>A (p.Gly516Arg)	USH2A (G516R)	Single nucleotide variant (missense variant)	Usher syndrome type 2A	GUncertain significance
Select item 3256574	NM_206933.4(USH2A):c.4356T>A (p.Cys1452Ter)	USH2A (C1452*)	Single nucleotide variant (nonsense)	Usher syndrome type 2A	GPathogenic
Select item 3250408	NM_206933.4(USH2A):c.13564C>T (p.Leu4522Phe)	USH2A (L4522F)	Single nucleotide variant (missense variant)	Usher syndrome type 2A	GLikely pathogenic
Select item 3239702	NM_206933.4(USH2A):c.5385T>A (p.Tyr1795Ter)	USH2A, USH2A-AS2 (Y1795*)	Single nucleotide variant (nonsense)	Usher syndrome type 2A	GLikely pathogenic
Select item 3236157	NM_206933.4(USH2A):c.1180C>A (p.Pro394Thr)	USH2A (P394T)	Single nucleotide variant (missense variant)	Usher syndrome type 2A	GLikely pathogenic
Select item 3066318	NM_206933.4(USH2A):c.14134-1G>T	USH2A	Single nucleotide variant (splice acceptor variant)	Usher syndrome type 2A	GPathogenic
Select item 3062094	NM_206933.4(USH2A):c.14173T>C (p.Trp4725Arg)	USH2A (W4725R)	Single nucleotide variant (missense variant)	Usher syndrome type 2A	GUncertain significance
Select item 3062086	NM_206933.4(USH2A):c.9155A>G (p.Glu3052Gly)	USH2A (E3052G)	Single nucleotide variant (missense variant)	Usher syndrome type 2A	GUncertain significance
Select item 3028743	NM_206933.4(USH2A):c.1645-2A>C	USH2A	Single nucleotide variant (splice acceptor variant)	Retinal dystrophy +2 more	GPathogenic/Likely pathogenic
Select item 3028662	NM_206933.4(USH2A):c.12447G>A (p.Trp4149Ter)	USH2A (W4149*)	Single nucleotide variant (nonsense)	Retinal dystrophy +2 more	GLikely pathogenic
Select item 3028658	NM_206933.4(USH2A):c.12863C>A (p.Pro4288Gln)	USH2A (P4288Q)	Single nucleotide variant (missense variant)	Usher syndrome type 2A +1 more	GUncertain significance
Select item 3024103	NM_206933.4(USH2A):c.1233C>A (p.Asp411Glu)	USH2A (D411E)	Single nucleotide variant (missense variant)	Usher syndrome type 2A	GUncertain significance
Select item 3024101	NM_206933.4(USH2A):c.257A>T (p.Gln86Leu)	USH2A (Q86L)	Single nucleotide variant (missense variant)	Usher syndrome type 2A	GUncertain significance
Select item 2921290	NM_206933.4(USH2A):c.3267_3268insTTCT (p.Leu1090fs)	USH2A, USH2A-AS1 (L1090fs)	Insertion (frameshift variant)	Usher syndrome type 2A	GLikely pathogenic
Select item 2845475	NM_206933.4(USH2A):c.8681+1G>C	USH2A	Single nucleotide variant (splice donor variant)	not provided +2 more	GPathogenic/Likely pathogenic
Select item 2780275	NM_206933.4(USH2A):c.1551-1G>A	USH2A	Single nucleotide variant (splice acceptor variant)	Usher syndrome type 2A +2 more	GLikely pathogenic
Select item 2734089	NM_206933.4(USH2A):c.5776G>A (p.Glu1926Lys)	USH2A, USH2A-AS2 (E1926K)	Single nucleotide variant (missense variant)	not provided +2 more	GPathogenic/Likely pathogenic
Select item 2734086	NM_206933.4(USH2A):c.7364G>A (p.Trp2455Ter)	USH2A (W2455*)	Single nucleotide variant (nonsense)	not provided +2 more	GPathogenic
Select item 2679574	NM_206933.4(USH2A):c.7594+1G>A	USH2A	Single nucleotide variant (splice donor variant)	Usher syndrome type 2A +2 more	GPathogenic/Likely pathogenic
Select item 2679532	NM_206933.4(USH2A):c.9120G>A (p.Trp3040Ter)	USH2A (W3040*)	Single nucleotide variant (nonsense)	Retinitis pigmentosa 39 +1 more	GPathogenic/Likely pathogenic
Select item 2679529	NM_206933.4(USH2A):c.6657+2T>C	USH2A	Single nucleotide variant (splice donor variant)	Retinitis pigmentosa 39 +1 more	GPathogenic/Likely pathogenic
Select item 2679471	NM_206933.4(USH2A):c.6520G>T (p.Glu2174Ter)	USH2A (E2174*)	Single nucleotide variant (nonsense)	Retinitis pigmentosa 39 +2 more	GPathogenic/Likely pathogenic
Select item 2679443	NM_206933.4(USH2A):c.7037A>G (p.His2346Arg)	USH2A (H2346R)	Single nucleotide variant (missense variant)	Retinitis pigmentosa 39 +1 more	GLikely pathogenic
Select item 2664993	NM_206933.4(USH2A):c.1841-377A>G	USH2A	Single nucleotide variant (intron variant)	Usher syndrome type 2A	GUncertain significance
Select item 2627567	NM_206933.4(USH2A):c.4409del (p.Leu1470fs)	USH2A (L1470fs)	Deletion (frameshift variant)	Usher syndrome type 2A	GLikely pathogenic
Select item 2577421	NM_206933.4(USH2A):c.13494_13516dup (p.Ser4506fs)	USH2A (S4506fs)	Duplication (frameshift variant)	Usher syndrome type 2A	GPathogenic
Select item 2506542	GRCh37/hg19 1q41(chr1:216138660-216270555)	USH2A	Copy number loss	Usher syndrome type 2A	GPathogenic
Select item 2503088	NM_206933.4(USH2A):c.7871del (p.Pro2624fs)	USH2A (P2624fs)	Deletion (frameshift variant)	Retinitis pigmentosa 39 +2 more	GPathogenic/Likely pathogenic
Select item 2445634	NM_206933.4(USH2A):c.9699del (p.His3234fs)	USH2A (H3234fs)	Deletion (frameshift variant)	Usher syndrome type 2A	GPathogenic
Select item 2444232	NM_206933.4(USH2A):c.5191_5192del (p.Met1731fs)	USH2A, USH2A-AS2 (M1731fs)	Microsatellite (frameshift variant)	not provided +1 more	GPathogenic
Select item 2431798	NM_206933.4(USH2A):c.11450C>T (p.Thr3817Ile)	USH2A (T3817I)	Single nucleotide variant (missense variant)	Usher syndrome type 2A	GUncertain significance
Select item 2420349	NM_206933.4(USH2A):c.1551-27A>G	USH2A	Single nucleotide variant (intron variant)	Usher syndrome type 2A +2 more	GConflicting classifications of pathogenicity
Select item 2412695	NM_206933.4(USH2A):c.7047G>A (p.Trp2349Ter)	USH2A (W2349*)	Single nucleotide variant (nonsense)	Usher syndrome type 2A +2 more	GPathogenic/Likely pathogenic
Select item 2202975	NM_206933.4(USH2A):c.2149T>G (p.Cys717Gly)	USH2A (C717G)	Single nucleotide variant (missense variant)	Usher syndrome +3 more	GPathogenic/Likely pathogenic
Select item 2202973	NM_206933.4(USH2A):c.3648C>A (p.Tyr1216Ter)	USH2A, USH2A-AS1 (Y1216*)	Single nucleotide variant (nonsense)	not provided +2 more	GPathogenic/Likely pathogenic
Select item 2202964	NM_206933.4(USH2A):c.4252-1G>A	USH2A	Single nucleotide variant (splice acceptor variant)	Usher syndrome type 2A +2 more	GLikely pathogenic
Select item 2202962	NM_206933.4(USH2A):c.4758+1G>A	USH2A	Single nucleotide variant (splice donor variant)	not provided +1 more	GPathogenic
Select item 2202936	NM_206933.4(USH2A):c.14174G>A (p.Trp4725Ter)	USH2A (W4725*)	Single nucleotide variant (nonsense)	Usher syndrome type 2A +2 more	GPathogenic
Select item 2202518	NM_206933.4(USH2A):c.11328T>G (p.Tyr3776Ter)	USH2A (Y3776*)	Single nucleotide variant (nonsense)	Usher syndrome type 2A +3 more	GPathogenic
Select item 2202152	NM_206933.4(USH2A):c.10595T>C (p.Ile3532Thr)	USH2A (I3532T)	Single nucleotide variant (missense variant)	not provided +2 more	GUncertain significance
Select item 2198754	NM_206933.4(USH2A):c.85T>A (p.Ser29Thr)	USH2A (S29T)	Single nucleotide variant (missense variant)	Inborn genetic diseases +3 more	GUncertain significance
Select item 2198654	NM_206933.4(USH2A):c.12118C>T (p.Arg4040Cys)	USH2A (R4040C)	Single nucleotide variant (missense variant)	Inborn genetic diseases +3 more	GUncertain significance

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