ClinVar for MedGen (Select 462488) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
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 3254934	NM_206933.4(USH2A):c.7040_7043delinsGAAAAGGGC (p.Val2347fs)	USH2A (V2347fs)	Indel (frameshift variant)	Retinitis pigmentosa 39	GPathogenic
Select item 3240725	NM_206933.4(USH2A):c.5092del (p.Glu1698fs)	USH2A, USH2A-AS2 (E1698fs)	Deletion (frameshift variant)	Retinitis pigmentosa 39	GLikely pathogenic
Select item 3240724	NM_206933.4(USH2A):c.1332dup (p.Thr445fs)	USH2A (T445fs)	Duplication (frameshift variant)	Retinitis pigmentosa 39	GLikely pathogenic
Select item 3240723	NM_206933.4(USH2A):c.14791+2T>C	USH2A	Single nucleotide variant (splice donor variant)	Retinitis pigmentosa 39	GPathogenic
Select item 3240722	NM_206933.4(USH2A):c.7407C>G (p.Tyr2469Ter)	USH2A (Y2469*)	Single nucleotide variant (nonsense)	Retinitis pigmentosa 39	GLikely pathogenic
Select item 3240721	NM_206933.4(USH2A):c.14693dup (p.Leu4899fs)	USH2A (L4899fs)	Duplication (frameshift variant)	Retinitis pigmentosa 39	GPathogenic
Select item 3240720	NM_206933.4(USH2A):c.2615T>A (p.Leu872Ter)	LOC122152296, USH2A (L872*)	Single nucleotide variant (nonsense)	Retinitis pigmentosa 39	GLikely pathogenic
Select item 3240718	NM_206933.4(USH2A):c.11403del (p.Glu3802fs)	USH2A (E3802fs)	Deletion (frameshift variant)	Retinitis pigmentosa 39	GLikely pathogenic
Select item 3240717	NM_206933.4(USH2A):c.9055+1G>T	USH2A	Single nucleotide variant (splice donor variant)	Retinitis pigmentosa 39	GLikely pathogenic
Select item 3240716	NM_206933.4(USH2A):c.11389+1G>C	USH2A	Single nucleotide variant (splice donor variant)	Retinitis pigmentosa 39 +1 more	GPathogenic
Select item 3240715	NM_206933.4(USH2A):c.5572+1G>T	USH2A, USH2A-AS2	Single nucleotide variant (splice donor variant)	Retinitis pigmentosa 39	GLikely pathogenic
Select item 3240714	NM_206933.4(USH2A):c.10585+2T>A	USH2A	Single nucleotide variant (splice donor variant)	Retinitis pigmentosa 39	GLikely pathogenic
Select item 3240713	NM_206933.4(USH2A):c.5577_5626dup (p.Leu1876delinsSerValValAlaTer)	USH2A, USH2A-AS2	Duplication (nonsense)	Retinitis pigmentosa 39	GLikely pathogenic
Select item 3240712	NM_206933.4(USH2A):c.2241C>A (p.Cys747Ter)	USH2A (C747*)	Single nucleotide variant (nonsense)	Retinitis pigmentosa 39	GLikely pathogenic
Select item 3240711	NM_206933.4(USH2A):c.15060_15066dup (p.Thr5023fs)	USH2A (T5023fs)	Duplication (frameshift variant)	Retinitis pigmentosa 39	GLikely pathogenic
Select item 3240710	NM_206933.4(USH2A):c.3594C>G (p.Tyr1198Ter)	USH2A, USH2A-AS1 (Y1198*)	Single nucleotide variant (nonsense)	Retinitis pigmentosa 39	GLikely pathogenic
Select item 3240709	NM_206933.4(USH2A):c.10773del (p.Ser3592fs)	USH2A (S3592fs)	Deletion (frameshift variant)	Retinitis pigmentosa 39	GLikely pathogenic
Select item 3240707	NM_206933.4(USH2A):c.14525C>A (p.Ser4842Ter)	USH2A (S4842*)	Single nucleotide variant (nonsense)	Retinitis pigmentosa 39	GPathogenic
Select item 3240706	NM_206933.4(USH2A):c.999dup (p.Arg334fs)	USH2A (R334fs)	Duplication (frameshift variant)	Retinitis pigmentosa 39	GLikely pathogenic
Select item 3240705	NM_206933.4(USH2A):c.7154_7155del (p.Lys2385fs)	USH2A (K2385fs)	Deletion (frameshift variant)	Retinitis pigmentosa 39	GLikely pathogenic
Select item 3240704	NM_206933.4(USH2A):c.11865G>A (p.Trp3955Ter)	USH2A (W3955*)	Single nucleotide variant (nonsense)	Retinitis pigmentosa 39	GPathogenic
Select item 3240703	NM_206933.4(USH2A):c.9959del	USH2A	Deletion (splice acceptor variant)	Retinitis pigmentosa 39	GLikely pathogenic
Select item 3240702	NM_206933.4(USH2A):c.4552A>T (p.Lys1518Ter)	USH2A (K1518*)	Single nucleotide variant (nonsense)	Retinitis pigmentosa 39	GLikely pathogenic
Select item 3240701	NM_206933.4(USH2A):c.8024_8025del (p.Leu2675fs)	USH2A (L2675fs)	Microsatellite (frameshift variant)	Retinitis pigmentosa 39	GLikely pathogenic
Select item 3240700	NM_206933.4(USH2A):c.1735dup (p.Ser579fs)	USH2A (S579fs)	Duplication (frameshift variant)	Retinitis pigmentosa 39	GLikely pathogenic
Select item 3240699	NM_206933.4(USH2A):c.11047+2T>C	USH2A	Single nucleotide variant (splice donor variant)	Retinitis pigmentosa 39	GLikely pathogenic
Select item 3240698	NM_206933.4(USH2A):c.15339_15342del (p.Ile5115fs)	USH2A (I5115fs)	Deletion (frameshift variant)	Retinitis pigmentosa 39	GLikely pathogenic
Select item 3240697	NM_206933.4(USH2A):c.11055G>A (p.Trp3685Ter)	USH2A (W3685*)	Single nucleotide variant (nonsense)	Retinitis pigmentosa 39	GLikely pathogenic
Select item 3240696	NM_206933.4(USH2A):c.5782del (p.Leu1928fs)	USH2A-AS2, USH2A (L1928fs)	Deletion (frameshift variant)	Retinitis pigmentosa 39	GLikely pathogenic
Select item 3240694	NM_206933.4(USH2A):c.5298+2T>C	USH2A, USH2A-AS2	Single nucleotide variant (splice donor variant)	Retinitis pigmentosa 39	GPathogenic
Select item 3240693	NM_206933.4(USH2A):c.13776dup (p.Ser4593fs)	USH2A (S4593fs)	Duplication (frameshift variant)	Retinitis pigmentosa 39	GLikely pathogenic
Select item 3240692	NM_206933.4(USH2A):c.6827delinsGAAATATGTGAA (p.Leu2276Ter)	USH2A (L2276*)	Indel (nonsense)	Retinitis pigmentosa 39	GLikely pathogenic
Select item 3240691	NM_206933.4(USH2A):c.5572+1G>C	USH2A, USH2A-AS2	Single nucleotide variant (splice donor variant)	Retinitis pigmentosa 39	GLikely pathogenic
Select item 3240690	NM_206933.4(USH2A):c.13709del (p.Arg4570fs)	USH2A (R4570fs)	Deletion (frameshift variant)	Retinitis pigmentosa 39	GLikely pathogenic
Select item 3240689	NM_206933.4(USH2A):c.5529dup (p.Gln1844fs)	USH2A, USH2A-AS2 (Q1844fs)	Duplication (frameshift variant)	Retinitis pigmentosa 39	GLikely pathogenic
Select item 3240688	NM_206933.4(USH2A):c.14774del (p.Phe4925fs)	USH2A (F4925fs)	Deletion (frameshift variant)	Retinitis pigmentosa 39	GLikely pathogenic
Select item 3240687	NM_206933.4(USH2A):c.15457_15460dup (p.Lys5154fs)	USH2A (K5154fs)	Duplication (frameshift variant)	Retinitis pigmentosa 39	GLikely pathogenic
Select item 3240686	NM_206933.4(USH2A):c.7187G>A (p.Trp2396Ter)	USH2A (W2396*)	Single nucleotide variant (nonsense)	Retinitis pigmentosa 39	GPathogenic
Select item 3236452	NM_206933.4(USH2A):c.789_798del (p.Glu264fs)	USH2A (E264fs)	Deletion (frameshift variant)	Retinitis pigmentosa 39	GLikely pathogenic
Select item 3028639	NM_206933.4(USH2A):c.14570G>T (p.Gly4857Val)	USH2A (G4857V)	Single nucleotide variant (missense variant)	Retinitis pigmentosa 39 +1 more	GLikely pathogenic
Select item 2920652	NM_206933.4(USH2A):c.869C>T (p.Ser290Phe)	USH2A (S290F)	Single nucleotide variant (missense variant)	Retinitis pigmentosa 39	GUncertain significance
Select item 2920651	NM_206933.4(USH2A):c.13931T>C (p.Met4644Thr)	USH2A (M4644T)	Single nucleotide variant (missense variant)	Retinitis pigmentosa 39	GUncertain significance
Select item 2920650	NM_206933.4(USH2A):c.10073G>C (p.Cys3358Ser)	USH2A (C3358S)	Single nucleotide variant (missense variant)	Retinitis pigmentosa 39	GLikely pathogenic
Select item 2845475	NM_206933.4(USH2A):c.8681+1G>C	USH2A	Single nucleotide variant (splice donor variant)	not provided +1 more	GPathogenic/Likely pathogenic
Select item 2814611	NM_206933.4(USH2A):c.2099_2120del (p.Gly700fs)	USH2A (G700fs)	Deletion (frameshift variant)	not provided +1 more	GPathogenic/Likely pathogenic
Select item 2792462	NM_206933.4(USH2A):c.14970del (p.Phe4991fs)	USH2A (F4991fs)	Deletion (frameshift variant)	not provided +1 more	GPathogenic/Likely pathogenic
Select item 2734088	NM_206933.4(USH2A):c.6925T>C (p.Cys2309Arg)	USH2A (C2309R)	Single nucleotide variant (missense variant)	Retinitis pigmentosa 39 +1 more	GPathogenic/Likely pathogenic
Select item 2734086	NM_206933.4(USH2A):c.7364G>A (p.Trp2455Ter)	USH2A (W2455*)	Single nucleotide variant (nonsense)	Retinitis pigmentosa 39 +1 more	GPathogenic
Select item 2734081	NM_206933.4(USH2A):c.9466del (p.Thr3156fs)	USH2A (T3156fs)	Deletion (frameshift variant)	Retinitis pigmentosa 39 +1 more	GPathogenic
Select item 2679578	NM_206933.4(USH2A):c.11850_11860del (p.Glu3952fs)	USH2A (E3952fs)	Deletion (frameshift variant)	Retinitis pigmentosa 39	GLikely pathogenic
Select item 2679577	NM_206933.4(USH2A):c.3828T>A (p.Tyr1276Ter)	USH2A, USH2A-AS1 (Y1276*)	Single nucleotide variant (nonsense)	Retinitis pigmentosa 39	GLikely pathogenic
Select item 2679576	NM_206933.4(USH2A):c.11533C>T (p.Gln3845Ter)	USH2A (Q3845*)	Single nucleotide variant (nonsense)	not provided +1 more	GPathogenic
Select item 2679575	NM_206933.4(USH2A):c.1934_1935del (p.Thr645fs)	USH2A (T645fs)	Deletion (frameshift variant)	Retinitis pigmentosa 39	GLikely pathogenic
Select item 2679574	NM_206933.4(USH2A):c.7594+1G>A	USH2A	Single nucleotide variant (splice donor variant)	Usher syndrome +1 more	GPathogenic/Likely pathogenic
Select item 2679573	NM_206933.4(USH2A):c.9386_9389del (p.Asp3129fs)	USH2A (D3129fs)	Microsatellite (frameshift variant)	Retinitis pigmentosa 39 +1 more	GPathogenic/Likely pathogenic
Select item 2679572	NM_206933.4(USH2A):c.13167_13170del (p.Lys4388_Tyr4389insTer)	USH2A	Deletion (nonsense)	Retinitis pigmentosa 39	GLikely pathogenic
Select item 2679571	NM_206933.4(USH2A):c.11833_11835delinsGGGTCAG (p.Cys3945fs)	USH2A (C3945fs)	Indel (frameshift variant)	Retinitis pigmentosa 39 +1 more	GLikely pathogenic
Select item 2679570	NM_206933.4(USH2A):c.5476_5482dup (p.Asp1828fs)	USH2A, USH2A-AS2 (D1828fs)	Duplication (frameshift variant)	Retinitis pigmentosa 39	GLikely pathogenic
Select item 2679569	NM_206933.4(USH2A):c.11556T>A (p.Cys3852Ter)	USH2A (C3852*)	Single nucleotide variant (nonsense)	not provided +1 more	GPathogenic/Likely pathogenic
Select item 2679568	NM_206933.4(USH2A):c.13515T>A (p.Tyr4505Ter)	USH2A (Y4505*)	Single nucleotide variant (nonsense)	Retinitis pigmentosa 39	GLikely pathogenic
Select item 2679567	NM_206933.4(USH2A):c.3523C>T (p.Gln1175Ter)	USH2A, USH2A-AS1 (Q1175*)	Single nucleotide variant (nonsense)	Retinitis pigmentosa 39	GLikely pathogenic
Select item 2679566	NM_206933.4(USH2A):c.7018C>T (p.Gln2340Ter)	USH2A (Q2340*)	Single nucleotide variant (nonsense)	Retinitis pigmentosa 39	GLikely pathogenic
Select item 2679565	NM_206933.4(USH2A):c.14454del (p.Thr4819fs)	USH2A (T4819fs)	Deletion (frameshift variant)	Retinitis pigmentosa 39	GLikely pathogenic
Select item 2679564	NM_206933.4(USH2A):c.9258+2T>C	USH2A	Single nucleotide variant (splice donor variant)	Retinitis pigmentosa 39	GLikely pathogenic
Select item 2679563	NM_206933.4(USH2A):c.14_15insAAGG (p.Leu6fs)	USH2A (L6fs)	Insertion (frameshift variant)	Retinitis pigmentosa 39	GLikely pathogenic
Select item 2679562	NM_206933.4(USH2A):c.1549del (p.Arg517fs)	USH2A (R517fs)	Deletion (frameshift variant)	Retinitis pigmentosa 39	GLikely pathogenic
Select item 2679561	NM_206933.4(USH2A):c.14283_14304del (p.Asn4762fs)	USH2A (N4762fs)	Deletion (frameshift variant)	not provided +1 more	GPathogenic/Likely pathogenic
Select item 2679560	NM_206933.4(USH2A):c.15298-2A>C	USH2A	Single nucleotide variant (splice acceptor variant)	Retinitis pigmentosa 39	GLikely pathogenic
Select item 2679559	NM_206933.4(USH2A):c.6657+1G>T	USH2A	Single nucleotide variant (splice donor variant)	Retinitis pigmentosa 39	GLikely pathogenic
Select item 2679558	NM_206933.4(USH2A):c.3266T>A (p.Leu1089Ter)	USH2A, USH2A-AS1 (L1089*)	Single nucleotide variant (nonsense)	Retinitis pigmentosa 39	GLikely pathogenic
Select item 2679557	NM_206933.4(USH2A):c.13288_13292del (p.Cys4429_Thr4430insTer)	USH2A	Deletion (nonsense)	Retinitis pigmentosa 39	GLikely pathogenic
Select item 2679556	NM_206933.4(USH2A):c.8668_8669dup (p.Gly2891fs)	USH2A (G2891fs)	Duplication (frameshift variant)	Retinitis pigmentosa 39	GLikely pathogenic
Select item 2679555	NM_206933.4(USH2A):c.1062G>A (p.Trp354Ter)	USH2A (W354*)	Single nucleotide variant (nonsense)	Retinitis pigmentosa 39	GLikely pathogenic
Select item 2679554	NM_206933.4(USH2A):c.15112_15115dup (p.Ser5039fs)	USH2A (S5039fs)	Duplication (frameshift variant)	Retinitis pigmentosa 39	GLikely pathogenic
Select item 2679553	NM_206933.4(USH2A):c.15126_15135del (p.Trp5042fs)	USH2A (W5042fs)	Deletion (frameshift variant)	Retinitis pigmentosa 39	GLikely pathogenic
Select item 2679552	NM_206933.4(USH2A):c.633G>A (p.Trp211Ter)	USH2A (W211*)	Single nucleotide variant (nonsense)	Retinitis pigmentosa 39	GPathogenic
Select item 2679550	NM_206933.4(USH2A):c.486-4_486-2del	USH2A	Deletion (splice acceptor variant)	not provided +1 more	GLikely pathogenic
Select item 2679549	NM_206933.4(USH2A):c.8906C>G (p.Ser2969Ter)	USH2A (S2969*)	Single nucleotide variant (nonsense)	Retinitis pigmentosa 39	GPathogenic
Select item 2679548	NM_206933.4(USH2A):c.10165del (p.Thr3389fs)	USH2A (T3389fs)	Deletion (frameshift variant)	Retinitis pigmentosa 39	GLikely pathogenic
Select item 2679547	NM_206933.4(USH2A):c.7305dup (p.Asp2436fs)	USH2A (D2436fs)	Duplication (frameshift variant)	not provided +1 more	GPathogenic/Likely pathogenic
Select item 2679546	NM_206933.4(USH2A):c.13189G>T (p.Glu4397Ter)	USH2A (E4397*)	Single nucleotide variant (nonsense)	Retinitis pigmentosa 39	GLikely pathogenic
Select item 2679545	NM_206933.4(USH2A):c.1413dup (p.Asn472Ter)	USH2A (N472*)	Duplication (nonsense)	Retinitis pigmentosa 39	GLikely pathogenic
Select item 2679544	NM_206933.4(USH2A):c.1927_1934del (p.Cys643fs)	USH2A (C643fs)	Deletion (frameshift variant)	not provided +1 more	GPathogenic/Likely pathogenic
Select item 2679543	NM_206933.4(USH2A):c.6516del (p.Leu2173fs)	USH2A (L2173fs)	Deletion (frameshift variant)	Retinitis pigmentosa 39	GLikely pathogenic
Select item 2679542	NM_206933.4(USH2A):c.4225C>T (p.Gln1409Ter)	USH2A, USH2A-AS1 (Q1409*)	Single nucleotide variant (nonsense)	Retinitis pigmentosa 39	GLikely pathogenic
Select item 2679541	NM_206933.4(USH2A):c.9650dup (p.Asn3217fs)	USH2A (N3217fs)	Duplication (frameshift variant)	Retinitis pigmentosa 39	GLikely pathogenic
Select item 2679540	NM_206933.4(USH2A):c.14893_14900del (p.Val4965fs)	USH2A (V4965fs)	Deletion (frameshift variant)	Retinitis pigmentosa 39	GLikely pathogenic
Select item 2679539	NM_206933.4(USH2A):c.6416dup (p.Gln2140fs)	USH2A (Q2140fs)	Duplication (frameshift variant)	Retinitis pigmentosa 39	GLikely pathogenic
Select item 2679538	NM_206933.4(USH2A):c.12172_12174delinsTAAA (p.Leu4058Ter)	USH2A (L4058*)	Indel (nonsense)	not provided +1 more	GPathogenic
Select item 2679537	NM_206933.4(USH2A):c.12045del (p.Val4016fs)	USH2A (V4016fs)	Deletion (frameshift variant)	Retinitis pigmentosa 39	GLikely pathogenic
Select item 2679536	NM_206933.4(USH2A):c.3222G>A (p.Trp1074Ter)	USH2A, USH2A-AS1 (W1074*)	Single nucleotide variant (nonsense)	Retinitis pigmentosa 39	GLikely pathogenic
Select item 2679535	NM_206933.4(USH2A):c.9846T>A (p.Cys3282Ter)	USH2A (C3282*)	Single nucleotide variant (nonsense)	Retinitis pigmentosa 39	GLikely pathogenic
Select item 2679534	NM_206933.4(USH2A):c.3811+1G>A	USH2A, USH2A-AS1	Single nucleotide variant (splice donor variant)	Retinitis pigmentosa 39	GLikely pathogenic
Select item 2679533	NM_206933.4(USH2A):c.3615_3618dup (p.Ile1207fs)	USH2A, USH2A-AS1 (I1207fs)	Duplication (frameshift variant)	Retinitis pigmentosa 39	GLikely pathogenic
Select item 2679532	NM_206933.4(USH2A):c.9120G>A (p.Trp3040Ter)	USH2A (W3040*)	Single nucleotide variant (nonsense)	Retinitis pigmentosa 39	GPathogenic
Select item 2679531	NM_206933.4(USH2A):c.7950del (p.Asn2651fs)	USH2A (N2651fs)	Deletion (frameshift variant)	Retinitis pigmentosa 39	GLikely pathogenic
Select item 2679530	NM_206933.4(USH2A):c.9894_9895del (p.Gln3298fs)	USH2A (Q3298fs)	Deletion (frameshift variant)	Retinitis pigmentosa 39	GLikely pathogenic

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