ClinVar for MedGen (Select 409988) - ClinVar

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 2575084	NM_014231.5(VAMP1):c.152dup (p.Asn51fs)	TAPBPL, VAMP1 (N51fs)	Duplication (frameshift variant +1 more)	Spastic ataxia 1	GLikely pathogenic
Select item 1280091	NM_014231.5(VAMP1):c.130-25T>A	TAPBPL, VAMP1	Single nucleotide variant (intron variant)	Spastic ataxia 1 +2 more	GBenign
Select item 1234868	NM_014231.5(VAMP1):c.*1588T>C	TAPBPL, VAMP1	Single nucleotide variant (3 prime UTR variant +1 more)	Spastic ataxia 1 +2 more	GBenign
Select item 995356	NM_014231.5(VAMP1):c.252C>A (p.Ala84=)	TAPBPL, VAMP1	Single nucleotide variant (synonymous variant +1 more)	Spastic ataxia 1 +4 more	GBenign
Select item 619001	NM_014231.5(VAMP1):c.340del (p.Ile114fs)	TAPBPL, VAMP1 (R114fs +2 more)	Deletion (frameshift variant +1 more)	Spastic paraplegia +3 more	GPathogenic/Likely pathogenic
Select item 240888	NM_014231.5(VAMP1):c.340+2T>G	TAPBPL, VAMP1 (S114R)	Single nucleotide variant (missense variant +1 more)	Spastic paraplegia +1 more	GPathogenic

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