"GeneDx"[submitter] AND "VAMP2"[gene] - ClinVar - NCBI

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Items: 12

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 59583	GRCh38/hg38 17p13.1(chr17:7478195-8435524)x1	ALOX12B, ALOX15B +191 more	Copy number loss	See cases	GPathogenic
Select item 929464	NM_014232.3(VAMP2):c.337_341del (p.Tyr113fs)	VAMP2 (Y113fs +1 more)	Deletion (frameshift variant)	not provided	GLikely pathogenic
Select item 1321621	NM_014232.3(VAMP2):c.334+12G>C	VAMP2	Single nucleotide variant (intron variant)	not provided +1 more	GBenign
Select item 2582025	NM_014232.3(VAMP2):c.256C>T (p.Arg86Cys)	VAMP2 (R86C +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 929461	NM_014232.3(VAMP2):c.217G>T (p.Gly73Trp)	VAMP2 (G73W +1 more)	Single nucleotide variant (missense variant)	not provided	GLikely pathogenic
Select item 2499259	NM_014232.3(VAMP2):c.197G>A (p.Arg66His)	VAMP2 (R66H +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 929463	NM_014232.3(VAMP2):c.167G>T (p.Arg56Leu)	VAMP2 (R56L +1 more)	Single nucleotide variant (missense variant)	not provided	GLikely pathogenic
Select item 929460	NM_014232.3(VAMP2):c.166C>T (p.Arg56Ter)	VAMP2 (R56* +1 more)	Single nucleotide variant (nonsense)	not provided	GPathogenic
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
Select item 3365676	NM_014232.3(VAMP2):c.29C>T (p.Pro10Leu)	LOC130060218, VAMP2 (P10L +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 929462	NM_014232.3(VAMP2):c.1A>G (p.Met1Val)	VAMP2 (M1V)	Single nucleotide variant (missense variant +1 more)	not provided	GPathogenic
Select item 3360767	NM_014232.3(VAMP2):c.188T>C (p.Leu63Pro)	VAMP2 (L63P +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance