ClinVar for Gene (Select 2027) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3243205	NC_000017.10:g.(?_422368)_(8285628_?)dup	SPEM1, SPEM2 +209 more	Duplication	not provided	GUncertain significance
Select item 3088909	NM_053013.4(ENO3):c.883C>G (p.Pro295Ala)	ENO3 (P304A +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3088908	NM_053013.4(ENO3):c.764G>A (p.Gly255Glu)	ENO3 (G255E +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3088906	NM_053013.4(ENO3):c.545T>G (p.Met182Arg)	ENO3 (M182R +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3088905	NM_053013.4(ENO3):c.382G>T (p.Val128Phe)	ENO3 (V128F +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3088903	NM_053013.4(ENO3):c.1280A>G (p.Lys427Arg)	ENO3 (K436R +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3068091	NM_053013.4(ENO3):c.1176+2T>C	ENO3	Single nucleotide variant (splice donor variant)	Glycogen storage disease due to muscle beta-enolase deficiency	GLikely pathogenic
Select item 3063486	GRCh37/hg19 17p13.3-11.2(chr17:525-21510992)x3	ABR, ACADVL +329 more	Copy number gain	not specified	GPathogenic
Select item 3063485	GRCh37/hg19 17p13.3-13.2(chr17:9474-6017500)x1	ABR, ALOX15 +116 more	Copy number loss	not specified	GPathogenic
Select item 3014786	NM_053013.4(ENO3):c.86-18C>T	ENO3	Single nucleotide variant (intron variant)	Glycogen storage disease due to muscle beta-enolase deficiency	GLikely benign
Select item 3004581	NM_053013.4(ENO3):c.865+7C>T	ENO3	Single nucleotide variant (intron variant)	Glycogen storage disease due to muscle beta-enolase deficiency	GLikely benign
Select item 2983463	NM_053013.4(ENO3):c.1177-16C>A	ENO3	Single nucleotide variant (intron variant)	Glycogen storage disease due to muscle beta-enolase deficiency	GLikely benign
Select item 2982854	NM_053013.4(ENO3):c.411C>T (p.Leu137=)	ENO3	Single nucleotide variant (synonymous variant)	Glycogen storage disease due to muscle beta-enolase deficiency	GLikely benign
Select item 2978483	NM_053013.4(ENO3):c.181+17G>C	ENO3	Single nucleotide variant (intron variant)	Glycogen storage disease due to muscle beta-enolase deficiency	GLikely benign
Select item 2976875	NM_053013.4(ENO3):c.726C>A (p.Ile242=)	ENO3	Single nucleotide variant (synonymous variant)	Glycogen storage disease due to muscle beta-enolase deficiency	GLikely benign
Select item 2971671	NM_053013.4(ENO3):c.228T>C (p.Ala76=)	ENO3	Single nucleotide variant (synonymous variant +1 more)	Glycogen storage disease due to muscle beta-enolase deficiency	GLikely benign
Select item 2918401	NM_053013.4(ENO3):c.1047G>C (p.Ser349=)	ENO3	Single nucleotide variant (synonymous variant)	Glycogen storage disease due to muscle beta-enolase deficiency	GLikely benign
Select item 2915833	NM_053013.4(ENO3):c.186C>T (p.Val62=)	ENO3	Single nucleotide variant (synonymous variant +1 more)	Glycogen storage disease due to muscle beta-enolase deficiency	GLikely benign
Select item 2913320	NM_053013.4(ENO3):c.1272T>C (p.Ala424=)	ENO3	Single nucleotide variant (synonymous variant)	Glycogen storage disease due to muscle beta-enolase deficiency	GLikely benign
Select item 2911412	NM_053013.4(ENO3):c.540A>G (p.Glu180=)	ENO3	Single nucleotide variant (synonymous variant)	Glycogen storage disease due to muscle beta-enolase deficiency	GLikely benign
Select item 2908521	NM_053013.4(ENO3):c.108C>T (p.Pro36=)	ENO3	Single nucleotide variant (synonymous variant)	Glycogen storage disease due to muscle beta-enolase deficiency	GLikely benign
Select item 2907301	NM_053013.4(ENO3):c.699G>T (p.Ala233=)	ENO3	Single nucleotide variant (synonymous variant)	Glycogen storage disease due to muscle beta-enolase deficiency	GLikely benign
Select item 2900931	NM_053013.4(ENO3):c.915C>G (p.Thr305=)	ENO3	Single nucleotide variant (synonymous variant)	Glycogen storage disease due to muscle beta-enolase deficiency	GLikely benign
Select item 2900132	NM_053013.4(ENO3):c.310+11G>C	ENO3	Single nucleotide variant (intron variant)	Glycogen storage disease due to muscle beta-enolase deficiency	GLikely benign
Select item 2891641	NM_053013.4(ENO3):c.87C>T (p.Gly29=)	ENO3	Single nucleotide variant (synonymous variant)	Glycogen storage disease due to muscle beta-enolase deficiency	GLikely benign
Select item 2889058	NM_053013.4(ENO3):c.750G>A (p.Glu250=)	ENO3	Single nucleotide variant (synonymous variant)	Glycogen storage disease due to muscle beta-enolase deficiency	GLikely benign
Select item 2888907	NM_053013.4(ENO3):c.153C>T (p.Asp51=)	ENO3	Single nucleotide variant (synonymous variant)	Glycogen storage disease due to muscle beta-enolase deficiency	GLikely benign
Select item 2866403	NM_053013.4(ENO3):c.651C>T (p.Ile217=)	ENO3	Single nucleotide variant (synonymous variant)	Glycogen storage disease due to muscle beta-enolase deficiency	GLikely benign
Select item 2864663	NM_053013.4(ENO3):c.687G>A (p.Thr229=)	ENO3	Single nucleotide variant (synonymous variant)	Glycogen storage disease due to muscle beta-enolase deficiency	GLikely benign
Select item 2810293	NM_053013.4(ENO3):c.228T>G (p.Ala76=)	ENO3	Single nucleotide variant (synonymous variant +1 more)	Glycogen storage disease due to muscle beta-enolase deficiency	GLikely benign
Select item 2808625	NM_053013.4(ENO3):c.687G>C (p.Thr229=)	ENO3	Single nucleotide variant (synonymous variant)	Glycogen storage disease due to muscle beta-enolase deficiency	GLikely benign
Select item 2780611	NM_053013.4(ENO3):c.445-15C>T	ENO3	Single nucleotide variant (intron variant)	Glycogen storage disease due to muscle beta-enolase deficiency	GLikely benign
Select item 2768826	NM_053013.4(ENO3):c.354G>C (p.Val118=)	ENO3	Single nucleotide variant (synonymous variant)	Glycogen storage disease due to muscle beta-enolase deficiency	GLikely benign
Select item 2762913	NM_053013.4(ENO3):c.445-18dup	ENO3	Duplication (intron variant)	Glycogen storage disease due to muscle beta-enolase deficiency	GLikely benign
Select item 2761909	NM_053013.4(ENO3):c.85+15A>T	ENO3	Single nucleotide variant (intron variant)	Glycogen storage disease due to muscle beta-enolase deficiency	GLikely benign
Select item 2746652	NM_053013.4(ENO3):c.865+11C>T	ENO3	Single nucleotide variant (intron variant)	Glycogen storage disease due to muscle beta-enolase deficiency	GLikely benign
Select item 2741569	NM_053013.4(ENO3):c.1067+16C>T	ENO3	Single nucleotide variant (intron variant)	Glycogen storage disease due to muscle beta-enolase deficiency	GLikely benign
Select item 2727812	NM_053013.4(ENO3):c.85+14C>T	ENO3	Single nucleotide variant (intron variant)	Glycogen storage disease due to muscle beta-enolase deficiency	GLikely benign
Select item 2724197	NM_053013.4(ENO3):c.240+20C>G	ENO3	Single nucleotide variant (intron variant)	Glycogen storage disease due to muscle beta-enolase deficiency	GLikely benign
Select item 2723176	NM_053013.4(ENO3):c.181+17G>A	ENO3	Single nucleotide variant (intron variant)	Glycogen storage disease due to muscle beta-enolase deficiency	GLikely benign
Select item 2720720	NM_053013.4(ENO3):c.1176+10G>A	ENO3	Single nucleotide variant (intron variant)	Glycogen storage disease due to muscle beta-enolase deficiency	GLikely benign
Select item 2719257	NM_053013.4(ENO3):c.866-4C>A	ENO3	Single nucleotide variant (intron variant)	Glycogen storage disease due to muscle beta-enolase deficiency	GLikely benign
Select item 2715314	NM_053013.4(ENO3):c.39C>T (p.Asp13=)	ENO3	Single nucleotide variant (synonymous variant)	Glycogen storage disease due to muscle beta-enolase deficiency	GLikely benign
Select item 2714966	NM_053013.4(ENO3):c.714C>T (p.Asp238=)	ENO3	Single nucleotide variant (synonymous variant)	Glycogen storage disease due to muscle beta-enolase deficiency +1 more	GLikely benign
Select item 2706545	NM_053013.4(ENO3):c.1236-14T>C	ENO3	Single nucleotide variant (intron variant)	Glycogen storage disease due to muscle beta-enolase deficiency	GLikely benign
Select item 2683902	NM_053013.4(ENO3):c.981G>C (p.Arg327Ser)	ENO3 (R284S +2 more)	Single nucleotide variant (missense variant)	Glycogen storage disease due to muscle beta-enolase deficiency	GUncertain significance
Select item 2647279	NM_053013.4(ENO3):c.529T>C (p.Ser177Pro)	ENO3 (S134P +2 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2589821	NM_053013.4(ENO3):c.1276C>T (p.Arg426Cys)	ENO3 (R383C +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2579287	GRCh38/hg38 17p13.3-12(chr17:165730-11404096)x3	LOC130060077, LOC130060078 +911 more	Copy number gain	Chromosome 17p13.3 duplication syndrome	GPathogenic
Select item 2521134	NM_053013.4(ENO3):c.46G>C (p.Gly16Arg)	ENO3 (G25R +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2494610	NM_053013.4(ENO3):c.546G>A (p.Met182Ile)	ENO3 (M139I +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2489526	NM_053013.4(ENO3):c.506T>C (p.Met169Thr)	ENO3 (M169T +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2424714	NM_053013.4(ENO3):c.444+14C>T	ENO3	Single nucleotide variant (intron variant)	Glycogen storage disease due to muscle beta-enolase deficiency	GLikely benign
Select item 2421912	NM_053013.4(ENO3):c.310+7G>A	ENO3	Single nucleotide variant (intron variant)	Glycogen storage disease due to muscle beta-enolase deficiency	GLikely benign
Select item 2420856	NM_053013.4(ENO3):c.1239C>T (p.Ile413=)	ENO3	Single nucleotide variant (synonymous variant)	Glycogen storage disease due to muscle beta-enolase deficiency	GLikely benign
Select item 2420050	NM_053013.4(ENO3):c.6C>T (p.Ala2=)	ENO3	Single nucleotide variant (synonymous variant)	Glycogen storage disease due to muscle beta-enolase deficiency	GLikely benign
Select item 2343379	NM_053013.4(ENO3):c.211A>G (p.Asn71Asp)	ENO3 (N80D +1 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2321218	NM_053013.4(ENO3):c.389T>C (p.Leu130Pro)	ENO3 (L130P +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2313157	NM_053013.4(ENO3):c.25C>T (p.Arg9Trp)	ENO3 (R18W +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2310681	NM_053013.4(ENO3):c.460A>C (p.Asn154His)	ENO3 (N154H +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2288728	NM_053013.4(ENO3):c.280A>G (p.Met94Val)	ENO3 (M94V +1 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2256065	NM_053013.4(ENO3):c.609T>A (p.Asp203Glu)	ENO3 (D212E +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2241755	NM_053013.4(ENO3):c.937A>C (p.Ile313Leu)	ENO3 (I313L +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2235366	NM_053013.4(ENO3):c.905C>T (p.Ala302Val)	ENO3 (A302V +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2202583	NM_053013.4(ENO3):c.865+12G>A	ENO3	Single nucleotide variant (intron variant)	Glycogen storage disease due to muscle beta-enolase deficiency	GLikely benign
Select item 2201750	NM_053013.4(ENO3):c.1199G>A (p.Arg400His)	ENO3 (R400H +2 more)	Single nucleotide variant (missense variant)	Glycogen storage disease due to muscle beta-enolase deficiency +1 more	GUncertain significance
Select item 2199896	NM_053013.4(ENO3):c.667+11del	ENO3	Deletion (intron variant)	Glycogen storage disease due to muscle beta-enolase deficiency	GLikely benign
Select item 2199881	NM_053013.4(ENO3):c.352G>A (p.Val118Met)	ENO3 (V118M +2 more)	Single nucleotide variant (missense variant)	Glycogen storage disease due to muscle beta-enolase deficiency	GUncertain significance
Select item 2199137	NM_053013.4(ENO3):c.300C>T (p.Thr100=)	ENO3	Single nucleotide variant (synonymous variant +1 more)	Glycogen storage disease due to muscle beta-enolase deficiency	GLikely benign
Select item 2194593	NM_053013.4(ENO3):c.801C>T (p.Pro267=)	ENO3	Single nucleotide variant (synonymous variant)	Glycogen storage disease due to muscle beta-enolase deficiency	GLikely benign
Select item 2194201	NM_053013.4(ENO3):c.877G>A (p.Glu293Lys)	ENO3 (E250K +2 more)	Single nucleotide variant (missense variant)	Glycogen storage disease due to muscle beta-enolase deficiency	GUncertain significance
Select item 2192600	NM_053013.4(ENO3):c.802G>A (p.Ala268Thr)	ENO3 (A225T +2 more)	Single nucleotide variant (missense variant)	Glycogen storage disease due to muscle beta-enolase deficiency	GUncertain significance
Select item 2192184	NM_053013.4(ENO3):c.135G>A (p.Glu45=)	ENO3	Single nucleotide variant (synonymous variant)	Glycogen storage disease due to muscle beta-enolase deficiency	GLikely benign
Select item 2189579	NM_053013.4(ENO3):c.556G>A (p.Ala186Thr)	ENO3 (A143T +2 more)	Single nucleotide variant (missense variant)	Glycogen storage disease due to muscle beta-enolase deficiency	GUncertain significance
Select item 2187814	NM_053013.4(ENO3):c.182-7T>C	ENO3	Single nucleotide variant (intron variant)	Glycogen storage disease due to muscle beta-enolase deficiency	GLikely benign
Select item 2186992	NM_053013.4(ENO3):c.758G>A (p.Arg253His)	ENO3 (R210H +2 more)	Single nucleotide variant (missense variant)	Glycogen storage disease due to muscle beta-enolase deficiency	GUncertain significance
Select item 2185911	NM_053013.4(ENO3):c.613A>G (p.Thr205Ala)	ENO3 (T214A +2 more)	Single nucleotide variant (missense variant)	Glycogen storage disease due to muscle beta-enolase deficiency	GUncertain significance
Select item 2185854	NM_053013.4(ENO3):c.351C>T (p.Ala117=)	ENO3	Single nucleotide variant (synonymous variant)	Glycogen storage disease due to muscle beta-enolase deficiency	GLikely benign
Select item 2184822	NM_053013.4(ENO3):c.524C>T (p.Ala175Val)	ENO3 (A184V +2 more)	Single nucleotide variant (missense variant)	Glycogen storage disease due to muscle beta-enolase deficiency	GUncertain significance
Select item 2183795	NM_053013.4(ENO3):c.1303T>C (p.Ter435Arg)	ENO3	Single nucleotide variant (stop lost)	Glycogen storage disease due to muscle beta-enolase deficiency	GUncertain significance
Select item 2183409	NM_053013.4(ENO3):c.846C>G (p.Ser282Arg)	ENO3 (S282R +2 more)	Single nucleotide variant (missense variant)	Glycogen storage disease due to muscle beta-enolase deficiency +1 more	GUncertain significance
Select item 2182869	NM_053013.4(ENO3):c.412G>C (p.Ala138Pro)	ENO3 (A138P +2 more)	Single nucleotide variant (missense variant)	Glycogen storage disease due to muscle beta-enolase deficiency	GUncertain significance
Select item 2181886	NM_053013.4(ENO3):c.262G>T (p.Glu88Ter)	ENO3 (E88* +1 more)	Single nucleotide variant (nonsense +1 more)	Glycogen storage disease due to muscle beta-enolase deficiency	GUncertain significance
Select item 2180694	NM_053013.4(ENO3):c.240+16C>T	ENO3	Single nucleotide variant (intron variant)	Glycogen storage disease due to muscle beta-enolase deficiency	GLikely benign
Select item 2180354	NM_053013.4(ENO3):c.1286G>A (p.Arg429His)	ENO3 (R386H +2 more)	Single nucleotide variant (missense variant)	Glycogen storage disease due to muscle beta-enolase deficiency	GUncertain significance
Select item 2174549	NM_053013.4(ENO3):c.657G>A (p.Glu219=)	ENO3	Single nucleotide variant (synonymous variant)	Glycogen storage disease due to muscle beta-enolase deficiency	GLikely benign
Select item 2169335	NM_053013.4(ENO3):c.1181A>G (p.Lys394Arg)	ENO3 (K394R +2 more)	Single nucleotide variant (missense variant)	Glycogen storage disease due to muscle beta-enolase deficiency	GUncertain significance
Select item 2168042	NM_053013.4(ENO3):c.829G>A (p.Gly277Arg)	ENO3 (G234R +2 more)	Single nucleotide variant (missense variant)	Glycogen storage disease due to muscle beta-enolase deficiency	GUncertain significance
Select item 2166827	NM_053013.4(ENO3):c.547C>T (p.Arg183Cys)	ENO3 (R183C +2 more)	Single nucleotide variant (missense variant)	Glycogen storage disease due to muscle beta-enolase deficiency	GUncertain significance
Select item 2166672	NM_053013.4(ENO3):c.522A>G (p.Gly174=)	ENO3	Single nucleotide variant (synonymous variant)	Glycogen storage disease due to muscle beta-enolase deficiency	GLikely benign
Select item 2165186	NM_053013.4(ENO3):c.662A>G (p.Asn221Ser)	ENO3 (N230S +2 more)	Single nucleotide variant (missense variant)	Glycogen storage disease due to muscle beta-enolase deficiency	GUncertain significance
Select item 2163189	NM_053013.4(ENO3):c.1296G>C (p.Lys432Asn)	ENO3 (K389N +2 more)	Single nucleotide variant (missense variant)	not provided +2 more	GUncertain significance
Select item 2160363	NM_053013.4(ENO3):c.235C>T (p.Gln79Ter)	ENO3 (Q79* +1 more)	Single nucleotide variant (nonsense +1 more)	Glycogen storage disease due to muscle beta-enolase deficiency	GUncertain significance
Select item 2159335	NM_053013.4(ENO3):c.1257C>A (p.Asp419Glu)	ENO3 (D419E +2 more)	Single nucleotide variant (missense variant)	Glycogen storage disease due to muscle beta-enolase deficiency	GUncertain significance
Select item 2158845	NM_053013.4(ENO3):c.1236G>C (p.Arg412Ser)	ENO3 (R369S +2 more)	Single nucleotide variant (missense variant)	Glycogen storage disease due to muscle beta-enolase deficiency	GUncertain significance
Select item 2156836	NM_053013.4(ENO3):c.131A>G (p.Tyr44Cys)	ENO3 (Y44C +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 2155373	NM_053013.4(ENO3):c.384C>T (p.Val128=)	ENO3	Single nucleotide variant (synonymous variant)	Glycogen storage disease due to muscle beta-enolase deficiency +1 more	GLikely benign
Select item 2152491	NM_053013.4(ENO3):c.211_212delinsGG (p.Asn71Gly)	ENO3 (N71G +1 more)	Indel (missense variant +1 more)	Glycogen storage disease due to muscle beta-enolase deficiency	GUncertain significance
Select item 2151615	NM_053013.4(ENO3):c.394C>T (p.Arg132Cys)	ENO3 (R132C +2 more)	Single nucleotide variant (missense variant)	Glycogen storage disease due to muscle beta-enolase deficiency	GUncertain significance
Select item 2150100	NM_053013.4(ENO3):c.444+5G>A	ENO3	Single nucleotide variant (intron variant)	Glycogen storage disease due to muscle beta-enolase deficiency	GUncertain significance

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