"PreventionGenetics, part of Exact Sciences"[submitter] AND "ENO3"[gen - ClinVar - NCBI

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Items: 9

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 324137	NM_053013.4(ENO3):c.226G>C (p.Ala76Pro)	ENO3 (A76P)	Single nucleotide variant (missense variant +1 more)	Glycogen storage disease due to muscle beta-enolase deficiency +2 more	GBenign/Likely benign
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 514212	NM_053013.4(ENO3):c.444+9A>G	ENO3	Single nucleotide variant (intron variant)	ENO3-related disorder +2 more	GLikely benign
Select item 1959986	NM_053013.4(ENO3):c.675G>A (p.Glu225=)	ENO3	Single nucleotide variant (synonymous variant)	ENO3-related disorder +1 more	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 471071	NM_053013.4(ENO3):c.828C>T (p.Leu276=)	ENO3	Single nucleotide variant (synonymous variant)	not provided +2 more	GBenign/Likely benign
Select item 1907837	NM_053013.4(ENO3):c.865+8G>A	ENO3	Single nucleotide variant (intron variant)	Glycogen storage disease due to muscle beta-enolase deficiency +1 more	GLikely benign
Select item 389739	NM_053013.4(ENO3):c.1176+8T>C	ENO3	Single nucleotide variant (intron variant)	ENO3-related disorder +2 more	GBenign/Likely benign
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