Related gene-specific medical variations for Gene (Select 6844) - ClinVar

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3030387	NM_014232.3(VAMP2):c.65C>T (p.Pro22Leu)	LOC130060218, VAMP2 (P22L +1 more)	Single nucleotide variant (missense variant)	VAMP2-related condition	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
Select item 2438508	NM_014232.3(VAMP2):c.13G>A (p.Ala5Thr)	LOC130060218, VAMP2 (A5T +1 more)	Single nucleotide variant (missense variant)	Neurodevelopmental disorder with hypotonia and autistic features with or without hyperkinetic movements	GUncertain significance
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 1701888	NM_014232.3(VAMP2):c.60del (p.Ala21fs)	LOC130060218, VAMP2 (A21fs +1 more)	Deletion (frameshift variant)	Neurodevelopmental disorder	GUncertain significance
Select item 1310702	NM_014232.3(VAMP2):c.38C>T (p.Pro13Leu)	LOC130060218, VAMP2 (P13L +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance

ClinVar