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Gene: ENO3 & Disease: Glycogen Storage Disease Due to Muscle Beta-Enolase Deficiency, 1113 results

ClinVar	Gene	Nucleotide	Amino Acid	Transcript ID	Mutation type	Clinical Significance	Disease count	Publications
1285633	ENO3	c.559G>A	p.Glu187Lys (p.E187K)	NM_053013.4 M	SNV	P	2 +	2
574469	ENO3	c.1194dup	p.Cys399fs (p.C399fs)	NM_053013.4 M	Dup	VUS	2 +	2
324136	ENO3	c.212A>G	p.Asn71Ser (p.N71S)	NM_053013.4 M	SNV	B	2 +	2
324146	ENO3	c.789G>C	p.Ser263= (p.S263=)	NM_053013.4 M	SNV	LB	2 +	2
324148	ENO3	c.993C>T	p.Ala331= (p.A331=)	NM_053013.4 M	SNV	LB	2 +	2
324138	ENO3	c.254T>C	p.Val85Ala (p.V85A)	NM_053013.4 M	SNV	B	2 +	2
1964077	ENO3	c.85+4A>T	--	NM_053013.4 M	SNV	VUS	2 +	2
2150100	ENO3	c.444+5G>A	--	NM_053013.4 M	SNV	VUS	2 +	2
16617	ENO3	c.467G>A	p.Gly156Asp (p.G156D)	NM_053013.4 M	SNV	P	2 +	2
16618	ENO3	c.1121G>A	p.Gly374Glu (p.G374E)	NM_053013.4 M	SNV	P	2 +	2
931059	ENO3	c.115G>A	p.Ala39Thr (p.A39T)	NM_053013.4 M	SNV	VUS	2 +	2
1966876	ENO3	c.1176G>A	p.Gln392= (p.Q392=)	NM_053013.4 M	SNV	VUS	2 +	2
2111817	ENO3	c.181+6_181+8del	--	NM_053013.4 M	MS	VUS	2 +	2
1805690	ENO3	c.1277G>A	p.Arg426His (p.R426H)	NM_053013.4 M	SNV	VUS	2 +	2
835452	ENO3	c.240G>A	p.Lys80= (p.K80=)	NM_053013.4 M	SNV	VUS	2 +	2
2055053	ENO3	c.1235+5A>G	--	NM_053013.4 M	SNV	VUS	2 +	2
508315	ENO3	c.865+3G>A	--	NM_053013.4 M	SNV	LB	2 +	2
1912226	ENO3	c.310+3G>A	--	NM_053013.4 M	SNV	VUS	2 +	2
594898	ENO3	c.64G>A	p.Val22Met (p.V22M)	NM_053013.4 M	SNV	VUS	2 +	2
2163189	ENO3	c.1296G>C	p.Lys432Asn (p.K432N)	NM_053013.4 M	SNV	VUS	2 +	2

1113 Results, 20 per Page

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