ClinVar for MedGen (Select 338513) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
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 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 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 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)	Usher syndrome type 2A +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 2412695	NM_206933.4(USH2A):c.7047G>A (p.Trp2349Ter)	USH2A (W2349*)	Single nucleotide variant (nonsense)	Usher syndrome type 2A +1 more	GPathogenic/Likely 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 2202152	NM_206933.4(USH2A):c.10595T>C (p.Ile3532Thr)	USH2A (I3532T)	Single nucleotide variant (missense variant)	Usher syndrome type 2A +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)	not provided +3 more	GUncertain significance
Select item 2186228	NM_206933.4(USH2A):c.5653A>G (p.Arg1885Gly)	USH2A, USH2A-AS2 (R1885G)	Single nucleotide variant (missense variant)	Usher syndrome type 2A +2 more	GUncertain significance
Select item 2179112	NM_206933.4(USH2A):c.15307G>A (p.Asp5103Asn)	USH2A (D5103N)	Single nucleotide variant (missense variant)	Usher syndrome type 2A +2 more	GUncertain significance
Select item 2178060	NM_206933.4(USH2A):c.5273A>G (p.Asn1758Ser)	USH2A, USH2A-AS2 (N1758S)	Single nucleotide variant (missense variant)	Usher syndrome type 2A +3 more	GUncertain significance
Select item 2174631	NM_206933.4(USH2A):c.12199A>C (p.Ser4067Arg)	USH2A (S4067R)	Single nucleotide variant (missense variant)	Retinitis pigmentosa 39 +3 more	GUncertain significance
Select item 2173643	NM_206933.4(USH2A):c.15001G>A (p.Glu5001Lys)	USH2A (E5001K)	Single nucleotide variant (missense variant)	not provided +3 more	GUncertain significance
Select item 2167366	NM_206933.4(USH2A):c.11203A>T (p.Thr3735Ser)	USH2A (T3735S)	Single nucleotide variant (missense variant)	not provided +2 more	GUncertain significance
Select item 2167037	NM_206933.4(USH2A):c.8783G>A (p.Gly2928Glu)	USH2A (G2928E)	Single nucleotide variant (missense variant)	not provided +3 more	GUncertain significance
Select item 2163016	NM_206933.4(USH2A):c.15479A>G (p.Asn5160Ser)	USH2A (N5160S)	Single nucleotide variant (missense variant)	Usher syndrome type 2A +3 more	GUncertain significance
Select item 2162681	NM_206933.4(USH2A):c.10855G>A (p.Val3619Ile)	USH2A (V3619I)	Single nucleotide variant (missense variant)	Usher syndrome type 2A +2 more	GUncertain significance
Select item 2157878	NM_206933.4(USH2A):c.7526G>A (p.Arg2509Gln)	USH2A (R2509Q)	Single nucleotide variant (missense variant)	Usher syndrome type 2A +2 more	GUncertain significance
Select item 2157006	NM_206933.4(USH2A):c.6253A>G (p.Ile2085Val)	USH2A (I2085V)	Single nucleotide variant (missense variant)	not provided +3 more	GUncertain significance
Select item 2154717	NM_206933.4(USH2A):c.13894C>T (p.Pro4632Ser)	USH2A (P4632S)	Single nucleotide variant (missense variant)	Usher syndrome type 2A +3 more	GUncertain significance
Select item 2152381	NM_206933.4(USH2A):c.3026C>G (p.Ala1009Gly)	USH2A, USH2A-AS1 (A1009G)	Single nucleotide variant (missense variant)	Inborn genetic diseases +3 more	GUncertain significance
Select item 2151916	NM_206933.4(USH2A):c.6083A>G (p.Tyr2028Cys)	USH2A (Y2028C)	Single nucleotide variant (missense variant)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 2151914	NM_206933.4(USH2A):c.10331G>A (p.Cys3444Tyr)	USH2A (C3444Y)	Single nucleotide variant (missense variant)	Usher syndrome type 2A +3 more	GPathogenic/Likely pathogenic
Select item 2151002	NM_206933.4(USH2A):c.5479G>A (p.Gly1827Arg)	USH2A, USH2A-AS2 (G1827R)	Single nucleotide variant (missense variant)	not provided +2 more	GUncertain significance
Select item 2150631	NM_206933.4(USH2A):c.7348A>C (p.Ser2450Arg)	USH2A (S2450R)	Single nucleotide variant (missense variant)	Retinitis pigmentosa 39 +2 more	GUncertain significance
Select item 2148256	NM_206933.4(USH2A):c.10628G>A (p.Arg3543His)	USH2A (R3543H)	Single nucleotide variant (missense variant)	not provided +2 more	GUncertain significance
Select item 2137924	NM_206933.4(USH2A):c.3468T>C (p.Tyr1156=)	USH2A, USH2A-AS1	Single nucleotide variant (synonymous variant)	Usher syndrome type 2A +2 more	GLikely benign
Select item 2113269	NM_206933.4(USH2A):c.13391G>A (p.Trp4464Ter)	USH2A (W4464*)	Single nucleotide variant (nonsense)	Usher syndrome type 2A +1 more	GPathogenic
Select item 2078003	NM_206933.4(USH2A):c.12940G>A (p.Val4314Met)	USH2A (V4314M)	Single nucleotide variant (missense variant)	Usher syndrome type 2A +3 more	GUncertain significance
Select item 2077730	NM_206933.4(USH2A):c.2942G>A (p.Arg981His)	USH2A, USH2A-AS1 (R981H)	Single nucleotide variant (missense variant)	Retinitis pigmentosa 39 +3 more	GUncertain significance
Select item 2072014	NM_206933.4(USH2A):c.3680G>C (p.Gly1227Ala)	USH2A, USH2A-AS1 (G1227A)	Single nucleotide variant (missense variant)	Retinitis pigmentosa 39 +3 more	GUncertain significance
Select item 2068219	NM_206933.4(USH2A):c.3820A>G (p.Ile1274Val)	USH2A, USH2A-AS1 (I1274V)	Single nucleotide variant (missense variant)	not provided +3 more	GUncertain significance
Select item 2056685	NM_206933.4(USH2A):c.14917G>A (p.Val4973Met)	USH2A (V4973M)	Single nucleotide variant (missense variant)	Usher syndrome type 2A +3 more	GUncertain significance
Select item 2052698	NM_206933.4(USH2A):c.10878G>T (p.Arg3626Ser)	USH2A (R3626S)	Single nucleotide variant (missense variant)	Retinitis pigmentosa 39 +2 more	GUncertain significance
Select item 2035692	NM_206933.4(USH2A):c.410C>T (p.Ser137Phe)	USH2A (S137F)	Single nucleotide variant (missense variant)	Inborn genetic diseases +3 more	GUncertain significance
Select item 1920830	NM_206933.4(USH2A):c.3809A>G (p.Asn1270Ser)	USH2A, USH2A-AS1 (N1270S)	Single nucleotide variant (missense variant)	not provided +2 more	GUncertain significance
Select item 1904280	NM_206933.4(USH2A):c.1259G>A (p.Gly420Asp)	USH2A (G420D)	Single nucleotide variant (missense variant)	Usher syndrome type 2A +2 more	GUncertain significance
Select item 1904279	NM_206933.4(USH2A):c.349C>T (p.His117Tyr)	USH2A (H117Y)	Single nucleotide variant (missense variant)	Usher syndrome type 2A +3 more	GUncertain significance
Select item 1895448	NM_206933.4(USH2A):c.2168-1G>T	USH2A	Single nucleotide variant (splice acceptor variant)	Usher syndrome type 2A	GLikely pathogenic
Select item 1806374	NM_206933.4(USH2A):c.1469A>C (p.His490Pro)	USH2A (H490P)	Single nucleotide variant (missense variant)	Usher syndrome type 2A	GUncertain significance
Select item 1804891	NM_206933.2(USH2A):c.850_853delGAGA	USH2A	Microsatellite	Usher syndrome type 2A +1 more	GPathogenic
Select item 1804866	NM_206933.4(USH2A):c.907C>T (p.Arg303Cys)	USH2A (R303C)	Single nucleotide variant (missense variant)	not specified +3 more	GUncertain significance
Select item 1803607	NM_206933.4(USH2A):c.10993G>A (p.Gly3665Arg)	USH2A (G3665R)	Single nucleotide variant (missense variant)	not provided +2 more	GUncertain significance
Select item 1800774	NM_206933.4(USH2A):c.15172T>C (p.Phe5058Leu)	USH2A (F5058L)	Single nucleotide variant (missense variant)	not provided +2 more	GUncertain significance
Select item 1800767	NM_206933.4(USH2A):c.8275A>G (p.Ile2759Val)	USH2A (I2759V)	Single nucleotide variant (missense variant)	Inborn genetic diseases +3 more	GUncertain significance
Select item 1800611	NM_206933.4(USH2A):c.7028G>A (p.Arg2343Gln)	USH2A (R2343Q)	Single nucleotide variant (missense variant)	not provided +2 more	GUncertain significance
Select item 1799543	NC_000001.11:g.(?_216270461)_(216260162_?)del	USH2A	Deletion	Usher syndrome type 2A	GPathogenic
Select item 1799542	NC_000001.11:g.(?_216462679)_(216462739_?)del	USH2A	Deletion	Usher syndrome type 2A	GLikely pathogenic
Select item 1799541	NC_000001.11:g.(?_216108034)_(216108100_?)del	USH2A	Deletion	Usher syndrome type 2A	GLikely pathogenic
Select item 1727006	NM_206933.4(USH2A):c.1645-2A>G	USH2A	Single nucleotide variant (splice acceptor variant)	not provided +1 more	GPathogenic
Select item 1726938	NM_206933.4(USH2A):c.6831T>A (p.Tyr2277Ter)	USH2A (Y2277*)	Single nucleotide variant (nonsense)	Usher syndrome type 2A	GLikely pathogenic
Select item 1726900	NM_206933.4(USH2A):c.2729_2730del (p.Gly910fs)	LOC122152296, USH2A (G910fs)	Deletion (frameshift variant)	Usher syndrome type 2A	GLikely pathogenic
Select item 1726859	NM_206933.4(USH2A):c.13482T>A (p.Tyr4494Ter)	USH2A (Y4494*)	Single nucleotide variant (nonsense)	Usher syndrome type 2A	GLikely pathogenic
Select item 1726756	NM_206933.4(USH2A):c.1394_1395delinsA (p.Pro465fs)	USH2A (P465fs)	Indel (frameshift variant)	Usher syndrome type 2A	GLikely pathogenic
Select item 1726722	NM_206933.4(USH2A):c.1499_1500delinsA (p.Val500fs)	USH2A (V500fs)	Indel (frameshift variant)	Usher syndrome type 2A	GLikely pathogenic
Select item 1726672	NM_206933.4(USH2A):c.3484_3485del (p.Ser1162fs)	USH2A, USH2A-AS1 (S1162fs)	Deletion (frameshift variant)	Usher syndrome type 2A	GLikely pathogenic
Select item 1726632	NM_206933.4(USH2A):c.2269A>T (p.Lys757Ter)	USH2A (K757*)	Single nucleotide variant (nonsense)	Retinitis pigmentosa 39 +1 more	GLikely pathogenic
Select item 1726463	NM_206933.4(USH2A):c.2525del (p.Phe842fs)	LOC122152296, USH2A (F842fs)	Deletion (frameshift variant)	Usher syndrome type 2A	GLikely pathogenic
Select item 1726365	NM_206933.4(USH2A):c.5831G>A (p.Trp1944Ter)	USH2A, USH2A-AS2 (W1944*)	Single nucleotide variant (nonsense)	Usher syndrome type 2A	GLikely pathogenic
Select item 1726249	NM_206933.4(USH2A):c.1170_1176del (p.Ser391fs)	USH2A (S391fs)	Deletion (frameshift variant)	Usher syndrome type 2A	GLikely pathogenic
Select item 1726209	NM_206933.4(USH2A):c.6056T>A (p.Leu2019Ter)	USH2A (L2019*)	Single nucleotide variant (nonsense)	Usher syndrome type 2A	GLikely pathogenic
Select item 1726041	NM_206933.4(USH2A):c.14661C>A (p.Tyr4887Ter)	USH2A (Y4887*)	Single nucleotide variant (nonsense)	Usher syndrome type 2A	GLikely pathogenic
Select item 1726035	NM_206933.4(USH2A):c.1235G>A (p.Trp412Ter)	USH2A (W412*)	Single nucleotide variant (nonsense)	Usher syndrome type 2A	GLikely pathogenic
Select item 1725907	NM_206933.4(USH2A):c.793C>T (p.Gln265Ter)	USH2A (Q265*)	Single nucleotide variant (nonsense)	Usher syndrome type 2A	GLikely pathogenic
Select item 1725901	NM_206933.4(USH2A):c.1014_1015insTATT (p.Ala339fs)	USH2A (A339fs)	Insertion (frameshift variant)	Usher syndrome type 2A	GLikely pathogenic
Select item 1725891	NM_206933.4(USH2A):c.3811G>T (p.Gly1271Ter)	USH2A, USH2A-AS1 (G1271*)	Single nucleotide variant (nonsense)	Usher syndrome type 2A	GLikely pathogenic
Select item 1725866	NM_206933.4(USH2A):c.8668A>T (p.Lys2890Ter)	USH2A (K2890*)	Single nucleotide variant (nonsense)	Usher syndrome type 2A	GLikely pathogenic
Select item 1725730	NM_206933.4(USH2A):c.3081delinsGTATAAGAGACAGT (p.Thr1028fs)	USH2A, USH2A-AS1 (T1028fs)	Indel (frameshift variant)	Usher syndrome type 2A	GLikely pathogenic
Select item 1725685	NM_206933.4(USH2A):c.3332T>A (p.Leu1111Ter)	USH2A, USH2A-AS1 (L1111*)	Single nucleotide variant (nonsense)	Usher syndrome type 2A	GLikely pathogenic
Select item 1725673	NM_206933.4(USH2A):c.2423_2425delinsCTTAT (p.Cys808fs)	LOC122152296, USH2A (C808fs)	Indel (frameshift variant)	Usher syndrome type 2A	GLikely pathogenic
Select item 1725606	NM_206933.4(USH2A):c.1428_1429del (p.Gln477fs)	USH2A (Q477fs)	Deletion (frameshift variant)	Usher syndrome type 2A	GLikely pathogenic
Select item 1725603	NM_206933.4(USH2A):c.2377A>T (p.Lys793Ter)	LOC122152296, USH2A (K793*)	Single nucleotide variant (nonsense)	Usher syndrome type 2A	GLikely pathogenic
Select item 1725594	NM_206933.4(USH2A):c.3623G>A (p.Trp1208Ter)	USH2A, USH2A-AS1 (W1208*)	Single nucleotide variant (nonsense)	Usher syndrome type 2A	GLikely pathogenic
Select item 1725576	NM_206933.4(USH2A):c.8182C>T (p.Gln2728Ter)	USH2A (Q2728*)	Single nucleotide variant (nonsense)	Usher syndrome type 2A	GLikely pathogenic
Select item 1725560	NM_206933.4(USH2A):c.2317A>T (p.Lys773Ter)	LOC122152296, USH2A (K773*)	Single nucleotide variant (nonsense)	Usher syndrome type 2A	GLikely pathogenic
Select item 1725555	NM_206933.4(USH2A):c.11626A>T (p.Lys3876Ter)	USH2A (K3876*)	Single nucleotide variant (nonsense)	Usher syndrome type 2A	GLikely pathogenic
Select item 1725505	NM_206933.4(USH2A):c.12961G>T (p.Glu4321Ter)	USH2A (E4321*)	Single nucleotide variant (nonsense)	Usher syndrome type 2A	GLikely pathogenic
Select item 1725481	NM_206933.4(USH2A):c.1994del (p.Lys665fs)	USH2A (K665fs)	Deletion (frameshift variant)	Usher syndrome type 2A	GLikely pathogenic
Select item 1725381	NM_206933.4(USH2A):c.3892_3899del (p.Gln1298fs)	USH2A, USH2A-AS1 (Q1298fs)	Deletion (frameshift variant)	Usher syndrome type 2A	GLikely pathogenic
Select item 1725293	NM_206933.4(USH2A):c.13646T>A (p.Leu4549Ter)	USH2A (L4549*)	Single nucleotide variant (nonsense)	Usher syndrome type 2A	GLikely pathogenic
Select item 1725283	NM_206933.4(USH2A):c.1659del (p.Leu553fs)	USH2A (L553fs)	Deletion (frameshift variant)	Usher syndrome type 2A	GLikely pathogenic
Select item 1725175	NM_206933.4(USH2A):c.997_998delinsA (p.Ser333fs)	USH2A (S333fs)	Indel (frameshift variant)	Usher syndrome type 2A	GLikely pathogenic

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