ClinVar for MedGen (Select 462488) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
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)	Retinitis pigmentosa 39 +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)	Retinitis pigmentosa 39	GPathogenic
Select item 2679573	NM_206933.4(USH2A):c.9386_9389del (p.Asp3129fs)	USH2A (D3129fs)	Microsatellite (frameshift variant)	not provided +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	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)	Retinitis pigmentosa 39 +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)	Retinitis pigmentosa 39 +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)	Retinitis pigmentosa 39 +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)	Retinitis pigmentosa 39 +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)	Retinitis pigmentosa 39 +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
Select item 2679529	NM_206933.4(USH2A):c.6657+2T>C	USH2A	Single nucleotide variant (splice donor variant)	Retinitis pigmentosa 39	GLikely pathogenic
Select item 2679528	NM_206933.4(USH2A):c.3663_3664dup (p.Ala1222fs)	USH2A, USH2A-AS1 (A1222fs)	Duplication (frameshift variant)	Retinitis pigmentosa 39	GLikely pathogenic
Select item 2679527	NM_206933.4(USH2A):c.3811+1G>T	USH2A, USH2A-AS1	Single nucleotide variant (splice donor variant)	not provided +1 more	GLikely pathogenic
Select item 2679526	NM_206933.4(USH2A):c.3639dup (p.Ala1214fs)	USH2A, USH2A-AS1 (A1214fs)	Duplication (frameshift variant)	Retinitis pigmentosa 39 +1 more	GPathogenic/Likely pathogenic
Select item 2679525	NM_206933.4(USH2A):c.2989G>T (p.Gly997Ter)	USH2A, USH2A-AS1 (G997*)	Single nucleotide variant (nonsense)	Retinitis pigmentosa 39	GLikely pathogenic
Select item 2679524	NM_206933.4(USH2A):c.14804_14808del (p.Arg4935fs)	USH2A (R4935fs)	Deletion (frameshift variant)	Retinitis pigmentosa 39	GLikely pathogenic
Select item 2679523	NM_206933.4(USH2A):c.6569G>A (p.Trp2190Ter)	USH2A (W2190*)	Single nucleotide variant (nonsense)	Retinitis pigmentosa 39	GLikely pathogenic
Select item 2679522	NM_206933.4(USH2A):c.8386_8389del (p.Cys2796fs)	USH2A (C2796fs)	Microsatellite (frameshift variant)	Retinitis pigmentosa 39	GLikely pathogenic
Select item 2679520	NM_206933.4(USH2A):c.374del (p.Ala125fs)	USH2A (A125fs)	Deletion (frameshift variant)	Retinitis pigmentosa 39	GLikely pathogenic
Select item 2679519	NM_206933.4(USH2A):c.8682-3_8682-1delinsAA	USH2A	Indel (splice acceptor variant)	Retinitis pigmentosa 39	GPathogenic
Select item 2679518	NM_206933.4(USH2A):c.3811+2T>A	USH2A, USH2A-AS1	Single nucleotide variant (splice donor variant)	Retinitis pigmentosa 39	GLikely pathogenic
Select item 2679517	NM_206933.4(USH2A):c.3502dup (p.Thr1168fs)	USH2A, USH2A-AS1 (T1168fs)	Duplication (frameshift variant)	Retinitis pigmentosa 39	GLikely pathogenic
Select item 2679516	NM_206933.4(USH2A):c.1421dup (p.Ser475fs)	USH2A (S475fs)	Duplication (frameshift variant)	Retinitis pigmentosa 39	GLikely pathogenic
Select item 2679515	NM_206933.4(USH2A):c.1134_1143+1del	USH2A	Deletion (splice donor variant)	Retinitis pigmentosa 39	GLikely pathogenic
Select item 2679514	NM_206933.4(USH2A):c.652-1G>A	USH2A	Single nucleotide variant (splice acceptor variant)	Retinitis pigmentosa 39	GLikely pathogenic
Select item 2679513	NM_206933.4(USH2A):c.144del (p.Val49fs)	USH2A (V49fs)	Deletion (frameshift variant)	Retinitis pigmentosa 39	GLikely pathogenic
Select item 2679512	NM_206933.4(USH2A):c.5147dup (p.Ala1717fs)	USH2A, USH2A-AS2 (A1717fs)	Duplication (frameshift variant)	Retinitis pigmentosa 39	GLikely pathogenic
Select item 2679511	NM_206933.4(USH2A):c.4585A>T (p.Lys1529Ter)	USH2A (K1529*)	Single nucleotide variant (nonsense)	Retinitis pigmentosa 39	GLikely pathogenic
Select item 2679510	NM_206933.4(USH2A):c.8500G>T (p.Glu2834Ter)	USH2A (E2834*)	Single nucleotide variant (nonsense)	Retinitis pigmentosa 39	GLikely pathogenic
Select item 2679509	NM_206933.4(USH2A):c.4396+1G>A	USH2A	Single nucleotide variant (splice donor variant)	Retinitis pigmentosa 39	GLikely pathogenic
Select item 2679508	NM_206933.4(USH2A):c.13856C>G (p.Ser4619Ter)	USH2A (S4619*)	Single nucleotide variant (nonsense)	Retinitis pigmentosa 39	GLikely pathogenic
Select item 2679507	NM_206933.4(USH2A):c.15053-2A>G	USH2A	Single nucleotide variant (splice acceptor variant)	Retinitis pigmentosa 39	GPathogenic
Select item 2679506	NM_206933.4(USH2A):c.10641_10645del (p.Ser3548fs)	USH2A (S3548fs)	Deletion (frameshift variant)	Retinitis pigmentosa 39	GLikely pathogenic
Select item 2679505	NM_206933.4(USH2A):c.4774del (p.Glu1591_Val1592insTer)	USH2A	Deletion (nonsense)	Retinitis pigmentosa 39	GLikely pathogenic
Select item 2679504	NM_206933.4(USH2A):c.12471_12472del (p.Gln4158fs)	USH2A (Q4158fs)	Microsatellite (frameshift variant)	Retinitis pigmentosa 39	GLikely pathogenic
Select item 2679503	NM_206933.4(USH2A):c.15053-5_15059del	USH2A	Deletion (splice acceptor variant)	Retinitis pigmentosa 39	GLikely pathogenic
Select item 2679502	NM_206933.4(USH2A):c.1111_1114del (p.Ile371fs)	USH2A (I371fs)	Deletion (frameshift variant)	Retinitis pigmentosa 39	GLikely pathogenic
Select item 2679501	NM_206933.4(USH2A):c.14133+1G>A	USH2A	Single nucleotide variant (splice donor variant)	Retinitis pigmentosa 39	GPathogenic
Select item 2679500	NM_206933.4(USH2A):c.1279_1280del (p.Asn427fs)	USH2A (N427fs)	Deletion (frameshift variant)	Retinitis pigmentosa 39	GLikely pathogenic
Select item 2679499	NM_206933.4(USH2A):c.7843C>T (p.Gln2615Ter)	USH2A (Q2615*)	Single nucleotide variant (nonsense)	Retinitis pigmentosa 39	GLikely pathogenic
Select item 2679498	NM_206933.4(USH2A):c.5781C>G (p.Tyr1927Ter)	USH2A, USH2A-AS2 (Y1927*)	Single nucleotide variant (nonsense)	Retinitis pigmentosa 39 +1 more	GPathogenic/Likely pathogenic
Select item 2679497	NM_206933.4(USH2A):c.11120del (p.Lys3707fs)	USH2A (K3707fs)	Deletion (frameshift variant)	Retinitis pigmentosa 39	GLikely pathogenic
Select item 2679496	NM_206933.4(USH2A):c.1479del (p.Tyr494fs)	USH2A (Y494fs)	Deletion (frameshift variant)	Retinitis pigmentosa 39	GLikely pathogenic
Select item 2679495	NM_206933.4(USH2A):c.12984del (p.Tyr4329fs)	USH2A (Y4329fs)	Deletion (frameshift variant)	Retinitis pigmentosa 39	GLikely pathogenic
Select item 2679494	NM_206933.4(USH2A):c.9723C>A (p.Tyr3241Ter)	USH2A (Y3241*)	Single nucleotide variant (nonsense)	Retinitis pigmentosa 39	GLikely pathogenic
Select item 2679493	NM_206933.4(USH2A):c.14811del (p.Ser4939fs)	USH2A (S4939fs)	Deletion (frameshift variant)	Retinitis pigmentosa 39	GLikely pathogenic
Select item 2679492	NM_206933.4(USH2A):c.11232-2A>G	USH2A	Single nucleotide variant (splice acceptor variant)	Retinitis pigmentosa 39 +1 more	GLikely pathogenic
Select item 2679491	NM_206933.4(USH2A):c.11730del (p.Glu3911fs)	USH2A (E3911fs)	Deletion (frameshift variant)	Retinitis pigmentosa 39	GLikely pathogenic
Select item 2679490	NM_206933.4(USH2A):c.2647G>T (p.Glu883Ter)	LOC122152296, USH2A (E883*)	Single nucleotide variant (nonsense)	Retinitis pigmentosa 39	GLikely pathogenic
Select item 2679489	NM_206933.4(USH2A):c.14586T>G (p.Tyr4862Ter)	USH2A (Y4862*)	Single nucleotide variant (nonsense)	Retinitis pigmentosa 39	GPathogenic
Select item 2679488	NM_206933.4(USH2A):c.10953C>G (p.Tyr3651Ter)	USH2A (Y3651*)	Single nucleotide variant (nonsense)	Retinitis pigmentosa 39	GLikely pathogenic
Select item 2679487	NM_206933.4(USH2A):c.4125_4126insA (p.Tyr1376fs)	USH2A, USH2A-AS1 (Y1376fs)	Insertion (frameshift variant)	Retinitis pigmentosa 39	GLikely pathogenic
Select item 2679486	NM_206933.4(USH2A):c.14967_14968del (p.Lys4989fs)	USH2A (K4989fs)	Deletion (frameshift variant)	Retinitis pigmentosa 39	GLikely pathogenic
Select item 2679485	NM_206933.4(USH2A):c.3932C>A (p.Ser1311Ter)	USH2A, USH2A-AS1 (S1311*)	Single nucleotide variant (nonsense)	Retinitis pigmentosa 39	GPathogenic
Select item 2679484	NM_206933.4(USH2A):c.13301C>G (p.Ser4434Ter)	USH2A (S4434*)	Single nucleotide variant (nonsense)	Retinitis pigmentosa 39	GLikely pathogenic
Select item 2679483	NM_206933.4(USH2A):c.13543C>T (p.Gln4515Ter)	USH2A (Q4515*)	Single nucleotide variant (nonsense)	Retinitis pigmentosa 39	GLikely pathogenic
Select item 2679482	NM_206933.4(USH2A):c.14792-1G>T	USH2A	Single nucleotide variant (splice acceptor variant)	Retinitis pigmentosa 39	GLikely pathogenic
Select item 2679481	NM_206933.4(USH2A):c.7059del (p.Arg2354fs)	USH2A (R2354fs)	Deletion (frameshift variant)	Retinitis pigmentosa 39 +1 more	GPathogenic/Likely pathogenic
Select item 2679480	NM_206933.4(USH2A):c.1823G>A (p.Cys608Tyr)	USH2A (C608Y)	Single nucleotide variant (missense variant)	Retinitis pigmentosa 39	GLikely pathogenic
Select item 2679479	NM_206933.4(USH2A):c.11447dup (p.Thr3817fs)	USH2A (T3817fs)	Duplication (frameshift variant)	Retinitis pigmentosa 39	GLikely pathogenic
Select item 2679478	NM_206933.4(USH2A):c.8557del (p.Arg2853fs)	USH2A (R2853fs)	Deletion (frameshift variant)	Retinitis pigmentosa 39	GLikely pathogenic
Select item 2679477	NM_206933.4(USH2A):c.9911T>G (p.Leu3304Ter)	USH2A (L3304*)	Single nucleotide variant (nonsense)	Retinitis pigmentosa 39	GLikely pathogenic

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