ClinVar for Gene (Select 124590) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3331280	NM_173477.5(USH1G):c.1364C>G (p.Ala455Gly)	USH1G (A352G +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3331278	NM_173477.5(USH1G):c.782A>G (p.Tyr261Cys)	USH1G (Y158C +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3331277	NM_173477.5(USH1G):c.161G>C (p.Arg54Pro)	USH1G (R54P)	Single nucleotide variant (5 prime UTR variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 3187053	NM_173477.5(USH1G):c.991C>G (p.Arg331Gly)	USH1G (R331G +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3187052	NM_173477.5(USH1G):c.88G>A (p.Glu30Lys)	USH1G (E30K)	Single nucleotide variant (5 prime UTR variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 3187051	NM_173477.5(USH1G):c.76A>C (p.Asn26His)	USH1G (N26H)	Single nucleotide variant (5 prime UTR variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 3187050	NM_173477.5(USH1G):c.1103G>A (p.Cys368Tyr)	USH1G (C265Y +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3187049	NM_173477.5(USH1G):c.100A>T (p.Thr34Ser)	USH1G (T34S)	Single nucleotide variant (5 prime UTR variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 3063507	GRCh37/hg19 17q25.1(chr17:72875847-73484159)x3	ARMC7, ATP5PD +19 more	Copy number gain	not specified	GUncertain significance
Select item 3052377	NM_173477.5(USH1G):c.445_450delinsCGCCAAGCTGCAGCGGA (p.Glu149fs)	USH1G (E149fs +1 more)	Indel (frameshift variant)	USH1G-related disorder	GLikely pathogenic
Select item 3026510	NM_173477.5(USH1G):c.175del (p.Asp59fs)	USH1G (D59fs)	Deletion (frameshift variant +1 more)	not provided	GPathogenic
Select item 3024556	NM_173477.5(USH1G):c.1382+2_1382+3del	OTOP2, USH1G	Microsatellite (splice donor variant)	Usher syndrome	GLikely pathogenic
Select item 2990954	NM_173477.5(USH1G):c.1326C>T (p.Ala442=)	USH1G	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2989571	NM_173477.5(USH1G):c.1167T>C (p.Thr389=)	USH1G	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2976975	NM_173477.5(USH1G):c.522C>A (p.Asp174Glu)	USH1G (D174E +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2975236	NM_173477.5(USH1G):c.453C>T (p.Ala151=)	USH1G	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2959321	NM_173477.5(USH1G):c.429G>A (p.Ala143=)	USH1G	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2834574	NM_173477.5(USH1G):c.1297del (p.Leu433fs)	LOC130061627, USH1G (L330fs +1 more)	Deletion (frameshift variant)	not provided	GPathogenic
Select item 2817058	NM_173477.5(USH1G):c.639G>A (p.Lys213=)	USH1G	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2811318	NM_173477.5(USH1G):c.546G>T (p.Thr182=)	USH1G	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2809949	NM_173477.5(USH1G):c.366C>T (p.Ala122=)	USH1G	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2800855	NM_173477.5(USH1G):c.916_917del (p.Leu306fs)	USH1G (L203fs +1 more)	Deletion (frameshift variant)	not provided	GPathogenic
Select item 2780152	NM_173477.5(USH1G):c.267C>A (p.Ala89=)	USH1G	Single nucleotide variant (5 prime UTR variant +1 more)	not provided	GLikely benign
Select item 2777054	NM_173477.5(USH1G):c.519C>T (p.Ser173=)	USH1G	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2761687	NM_173477.5(USH1G):c.885G>T (p.Ser295=)	USH1G	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2741442	NM_173477.5(USH1G):c.275G>A (p.Trp92Ter)	USH1G (W92*)	Single nucleotide variant (5 prime UTR variant +1 more)	not provided	GPathogenic
Select item 2736644	NM_173477.5(USH1G):c.84dup (p.Asp29fs)	USH1G (D29fs)	Duplication (5 prime UTR variant +1 more)	not provided	GPathogenic
Select item 2736643	NM_173477.5(USH1G):c.1195_1196del (p.Leu399fs)	USH1G (L296fs +1 more)	Microsatellite (frameshift variant)	not provided	GPathogenic
Select item 2736523	NM_173477.5(USH1G):c.1113G>A (p.Glu371=)	USH1G	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2713487	NM_173477.5(USH1G):c.487C>A (p.Arg163=)	USH1G	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2709087	NM_173477.5(USH1G):c.1004del (p.Gly335fs)	USH1G (G232fs +1 more)	Deletion (frameshift variant)	not provided	GPathogenic
Select item 2695082	NM_173477.5(USH1G):c.1352_1353del (p.Glu451fs)	USH1G (E348fs +1 more)	Deletion (frameshift variant)	not provided	GPathogenic
Select item 2683441	NM_173477.5(USH1G):c.463C>T (p.Arg155Trp)	USH1G (R155W +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2578041	NM_173477.5(USH1G):c.580G>T (p.Ala194Ser)	USH1G (A194S +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2578017	GRCh37/hg19 17q25.1(chr17:72718277-74142256)	ACOX1, ARMC7 +52 more	Copy number gain	7q11.23 microduplication syndrome	GPathogenic
Select item 2558091	NM_173477.5(USH1G):c.754G>T (p.Asp252Tyr)	USH1G (D149Y +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2542478	NM_173477.5(USH1G):c.769C>T (p.Arg257Cys)	USH1G (R154C +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2537978	NM_173477.5(USH1G):c.236A>C (p.His79Pro)	USH1G (H79P)	Single nucleotide variant (5 prime UTR variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2534713	NM_173477.5(USH1G):c.595C>G (p.Leu199Val)	USH1G (L199V +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2534712	NM_173477.5(USH1G):c.1001G>C (p.Gly334Ala)	USH1G (G231A +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GLikely benign
Select item 2503097	NM_173477.5(USH1G):c.956_960delinsA (p.Arg319fs)	USH1G (R216fs +1 more)	Indel (frameshift variant)	Usher syndrome	GPathogenic
Select item 2498731	GRCh37/hg19 17q25.1(chr17:72864876-73328878)x1	ARMC7, ATP5PD +19 more	Copy number loss	not provided	GUncertain significance
Select item 2486212	NM_173477.5(USH1G):c.70G>A (p.Glu24Lys)	USH1G (E24K)	Single nucleotide variant (5 prime UTR variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2457006	NM_173477.5(USH1G):c.1313A>T (p.Lys438Met)	LOC130061627, USH1G (K335M +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2457000	NM_173477.5(USH1G):c.1314G>C (p.Lys438Asn)	LOC130061627, USH1G (K335N +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2445662	NM_173477.5(USH1G):c.85dup (p.Asp29fs)	USH1G (D29fs)	Duplication (5 prime UTR variant +1 more)	Usher syndrome type 1G	GPathogenic
Select item 2445661	NM_173477.5(USH1G):c.1324del (p.Ala442fs)	USH1G (A442fs +1 more)	Deletion (frameshift variant)	Usher syndrome type 1G	GPathogenic
Select item 2429315	NM_173477.5(USH1G):c.607C>T (p.Gln203Ter)	USH1G (Q100* +1 more)	Single nucleotide variant (nonsense)	Usher syndrome	GLikely pathogenic
Select item 2427500	NC_000017.10:g.(?_72914168)_(72919168_?)del	USH1G	Deletion	not provided	GPathogenic
Select item 2414345	NM_173477.5(USH1G):c.30G>C (p.Arg10=)	USH1G	Single nucleotide variant (5 prime UTR variant +1 more)	not provided	GLikely benign
Select item 2312411	NM_173477.5(USH1G):c.491G>A (p.Arg164Gln)	USH1G (R164Q +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2306648	NM_173477.5(USH1G):c.1235A>C (p.Lys412Thr)	USH1G (K309T +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2301217	NM_173477.5(USH1G):c.397G>C (p.Gly133Arg)	USH1G (G133R +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2263352	NM_173477.5(USH1G):c.923C>T (p.Thr308Ile)	USH1G (T308I +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2237988	NM_173477.5(USH1G):c.944T>C (p.Met315Thr)	USH1G (M315T +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2192865	NM_173477.5(USH1G):c.975G>A (p.Gly325=)	USH1G	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2189255	NM_173477.5(USH1G):c.519C>G (p.Ser173=)	USH1G	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2187504	NM_173477.5(USH1G):c.1010A>T (p.Asp337Val)	USH1G (D234V +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2141178	NM_173477.5(USH1G):c.174G>A (p.Pro58=)	USH1G	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2138104	NM_173477.5(USH1G):c.805C>T (p.Arg269Ter)	USH1G (R166* +1 more)	Single nucleotide variant (nonsense)	not provided	GPathogenic
Select item 2135974	NM_173477.5(USH1G):c.1237A>G (p.Ile413Val)	USH1G (I310V +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2135484	NM_173477.5(USH1G):c.1054C>T (p.Leu352=)	USH1G	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2128877	NM_173477.5(USH1G):c.1280G>A (p.Arg427His)	LOC130061627, USH1G (R324H +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2128462	NM_173477.5(USH1G):c.833C>T (p.Ser278Leu)	USH1G (S278L +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2128192	NM_173477.5(USH1G):c.1219C>T (p.Leu407Phe)	USH1G (L304F +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2117924	NM_173477.5(USH1G):c.303G>C (p.Pro101=)	USH1G	Single nucleotide variant (5 prime UTR variant +1 more)	not provided	GLikely benign
Select item 2114985	NM_173477.5(USH1G):c.713G>T (p.Arg238Leu)	USH1G (R135L +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2110967	NM_173477.5(USH1G):c.45G>A (p.Glu15=)	USH1G	Single nucleotide variant (5 prime UTR variant +1 more)	not provided	GLikely benign
Select item 2110269	NM_173477.5(USH1G):c.1375A>T (p.Thr459Ser)	USH1G (T356S +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2106894	NM_173477.5(USH1G):c.877G>A (p.Ala293Thr)	USH1G (A293T +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2101434	NM_173477.5(USH1G):c.542T>C (p.Leu181Pro)	USH1G (L181P +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2099118	NM_173477.5(USH1G):c.120C>T (p.Ala40=)	USH1G	Single nucleotide variant (5 prime UTR variant +1 more)	not provided	GUncertain significance
Select item 2097773	NM_173477.5(USH1G):c.502G>A (p.Glu168Lys)	USH1G (E168K +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2097557	NM_173477.5(USH1G):c.985C>A (p.Leu329Met)	USH1G (L329M +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2093998	NM_173477.5(USH1G):c.1067G>A (p.Ser356Asn)	USH1G (S356N +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2071380	NM_173477.5(USH1G):c.531C>G (p.Ser177Arg)	USH1G (S177R +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2064891	NM_173477.5(USH1G):c.1218C>T (p.Ala406=)	USH1G	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2036828	NM_173477.5(USH1G):c.729G>T (p.Ser243=)	USH1G	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2033579	NM_173477.5(USH1G):c.96C>T (p.Gly32=)	USH1G	Single nucleotide variant (5 prime UTR variant +1 more)	not provided	GLikely benign
Select item 2027961	NM_173477.5(USH1G):c.1382+18_1382+19insCG	USH1G	Insertion (intron variant)	not provided	GLikely benign
Select item 2022017	NM_173477.5(USH1G):c.1158G>A (p.Glu386=)	USH1G	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2021867	NM_173477.5(USH1G):c.799T>C (p.Trp267Arg)	USH1G (W164R +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2016935	NM_173477.5(USH1G):c.182G>A (p.Cys61Tyr)	USH1G (C61Y)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2016623	NM_173477.5(USH1G):c.926G>T (p.Arg309Leu)	USH1G (R309L +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2011595	NM_173477.5(USH1G):c.430G>A (p.Glu144Lys)	USH1G (E144K +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2009437	NM_173477.5(USH1G):c.22G>A (p.Ala8Thr)	USH1G (A8T)	Single nucleotide variant (5 prime UTR variant +1 more)	not provided	GUncertain significance
Select item 2008465	NM_173477.5(USH1G):c.860C>T (p.Thr287Met)	USH1G (T287M +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2005661	NM_173477.5(USH1G):c.988G>C (p.Gly330Arg)	USH1G (G330R +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1993773	NM_173477.5(USH1G):c.1146C>T (p.Asp382=)	USH1G	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1981565	NM_173477.5(USH1G):c.1110G>C (p.Glu370Asp)	USH1G (E267D +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1968118	NM_173477.5(USH1G):c.434G>A (p.Arg145Gln)	USH1G (R145Q +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1966905	NM_173477.5(USH1G):c.1306C>G (p.Arg436Gly)	LOC130061627, USH1G (R333G +1 more)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 1965276	NM_173477.5(USH1G):c.1318T>C (p.Leu440=)	USH1G	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1960235	NM_173477.5(USH1G):c.1368G>A (p.Leu456=)	USH1G	Single nucleotide variant (synonymous variant)	USH1G-related disorder +1 more	GLikely benign
Select item 1957721	NM_173477.5(USH1G):c.146G>A (p.Arg49His)	USH1G (R49H)	Single nucleotide variant (5 prime UTR variant +1 more)	not provided	GUncertain significance
Select item 1956558	NM_173477.5(USH1G):c.792C>T (p.Pro264=)	USH1G	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1954031	NM_173477.5(USH1G):c.1325C>A (p.Ala442Asp)	USH1G (A442D +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1944831	NM_173477.5(USH1G):c.1201A>G (p.Met401Val)	USH1G (M298V +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1942061	NM_173477.5(USH1G):c.374G>A (p.Ser125Asn)	USH1G (S22N +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1941610	NM_173477.5(USH1G):c.243G>A (p.Leu81=)	USH1G	Single nucleotide variant (5 prime UTR variant +1 more)	not provided	GLikely benign

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