"Ambry Genetics"[submitter] AND "VAMP2"[gene] - ClinVar

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 2672687	NM_014232.3(VAMP2):c.328A>C (p.Ile110Leu)	VAMP2 (I110L +1 more)	Single nucleotide variant (missense variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 985205	NM_014232.3(VAMP2):c.221C>T (p.Ala74Val)	VAMP2 (A74V +1 more)	Single nucleotide variant (missense variant)	Neurodevelopmental disorder with hypotonia and autistic features with or without hyperkinetic movements +1 more	GUncertain significance
Select item 2229982	NM_014232.3(VAMP2):c.124-3C>T	VAMP2	Single nucleotide variant (intron variant)	Inborn genetic diseases +1 more	GLikely benign
Select item 2336398	NM_014232.3(VAMP2):c.37C>T (p.Pro13Ser)	LOC130060218, VAMP2 (P13S +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3188119	NM_014232.3(VAMP2):c.28C>G (p.Pro10Ala)	LOC130060218, VAMP2 (P10A +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2624383	NM_014232.3(VAMP2):c.8C>T (p.Ala3Val)	LOC130060218, VAMP2 (A3V +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance

ClinVar