ClinVar for MedGen (Select 442873) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
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 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)	ENO3-related condition +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 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 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	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)	Inborn genetic diseases +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)	Glycogen storage disease due to muscle beta-enolase deficiency +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)	Glycogen storage disease due to muscle beta-enolase deficiency	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
Select item 2149350	NM_053013.4(ENO3):c.1221C>A (p.Tyr407Ter)	ENO3 (Y364* +2 more)	Single nucleotide variant (nonsense)	Glycogen storage disease due to muscle beta-enolase deficiency	GUncertain significance
Select item 2147521	NM_053013.4(ENO3):c.298A>T (p.Thr100Ser)	ENO3 (T109S +1 more)	Single nucleotide variant (missense variant +1 more)	Glycogen storage disease due to muscle beta-enolase deficiency	GUncertain significance
Select item 2145260	NM_053013.4(ENO3):c.563T>C (p.Val188Ala)	ENO3 (V145A +2 more)	Single nucleotide variant (missense variant)	Glycogen storage disease due to muscle beta-enolase deficiency	GUncertain significance
Select item 2145169	NM_053013.4(ENO3):c.1240G>A (p.Glu414Lys)	ENO3 (E371K +2 more)	Single nucleotide variant (missense variant)	Glycogen storage disease due to muscle beta-enolase deficiency	GUncertain significance
Select item 2144537	NM_053013.4(ENO3):c.445-13C>T	ENO3	Single nucleotide variant (intron variant)	Glycogen storage disease due to muscle beta-enolase deficiency	GLikely benign
Select item 2142629	NM_053013.4(ENO3):c.95G>A (p.Arg32Gln)	ENO3 (R32Q +1 more)	Single nucleotide variant (missense variant)	Glycogen storage disease due to muscle beta-enolase deficiency	GUncertain significance
Select item 2141579	NM_053013.4(ENO3):c.744A>G (p.Ala248=)	ENO3	Single nucleotide variant (synonymous variant)	Glycogen storage disease due to muscle beta-enolase deficiency	GLikely benign
Select item 2141570	NM_053013.4(ENO3):c.771C>T (p.Tyr257=)	ENO3	Single nucleotide variant (synonymous variant)	Glycogen storage disease due to muscle beta-enolase deficiency	GLikely benign
Select item 2140226	NM_053013.4(ENO3):c.623G>C (p.Gly208Ala)	ENO3 (G165A +2 more)	Single nucleotide variant (missense variant)	Glycogen storage disease due to muscle beta-enolase deficiency	GUncertain significance
Select item 2140129	NM_053013.4(ENO3):c.383T>A (p.Val128Asp)	ENO3 (V137D +2 more)	Single nucleotide variant (missense variant)	Glycogen storage disease due to muscle beta-enolase deficiency	GUncertain significance
Select item 2139054	NM_053013.4(ENO3):c.1203G>A (p.Ser401=)	ENO3	Single nucleotide variant (synonymous variant)	Glycogen storage disease due to muscle beta-enolase deficiency	GLikely benign
Select item 2137888	NM_053013.4(ENO3):c.1095G>A (p.Trp365Ter)	ENO3 (W322* +2 more)	Single nucleotide variant (nonsense)	Glycogen storage disease due to muscle beta-enolase deficiency	GUncertain significance
Select item 2131478	NM_053013.4(ENO3):c.1177A>G (p.Ile393Val)	ENO3 (I350V +2 more)	Single nucleotide variant (missense variant)	Glycogen storage disease due to muscle beta-enolase deficiency	GUncertain significance
Select item 2129695	NM_053013.4(ENO3):c.1233G>A (p.Met411Ile)	ENO3 (M411I +2 more)	Single nucleotide variant (missense variant)	Glycogen storage disease due to muscle beta-enolase deficiency	GUncertain significance
Select item 2129139	NM_053013.4(ENO3):c.468C>T (p.Gly156=)	ENO3	Single nucleotide variant (synonymous variant)	Glycogen storage disease due to muscle beta-enolase deficiency	GLikely benign
Select item 2123843	NM_053013.4(ENO3):c.444+7G>A	ENO3	Single nucleotide variant (intron variant)	Glycogen storage disease due to muscle beta-enolase deficiency	GLikely benign
Select item 2121080	NM_053013.4(ENO3):c.86-12C>T	ENO3	Single nucleotide variant (intron variant)	Glycogen storage disease due to muscle beta-enolase deficiency	GLikely benign
Select item 2118018	NM_053013.4(ENO3):c.469T>G (p.Ser157Ala)	ENO3 (S166A +2 more)	Single nucleotide variant (missense variant)	Glycogen storage disease due to muscle beta-enolase deficiency	GUncertain significance
Select item 2112934	NM_053013.4(ENO3):c.1215C>T (p.Ala405=)	ENO3	Single nucleotide variant (synonymous variant)	Glycogen storage disease due to muscle beta-enolase deficiency	GLikely benign
Select item 2111817	NM_053013.4(ENO3):c.181+6_181+8del	ENO3	Microsatellite (intron variant)	Glycogen storage disease due to muscle beta-enolase deficiency	GUncertain significance
Select item 2100572	NM_053013.4(ENO3):c.444+1G>T	ENO3	Single nucleotide variant (splice donor variant)	Glycogen storage disease due to muscle beta-enolase deficiency	GUncertain significance
Select item 2092553	NM_053013.4(ENO3):c.531C>T (p.Ser177=)	ENO3	Single nucleotide variant (synonymous variant)	Glycogen storage disease due to muscle beta-enolase deficiency	GLikely benign

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