"Baylor Genetics"[submitter] AND "VPS13A"[gene] - ClinVar

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 367346	NM_033305.3(VPS13A):c.775A>G (p.Asn259Asp)	VPS13A (N259D)	Single nucleotide variant (missense variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 1028512	NM_033305.3(VPS13A):c.2326C>T (p.Arg776Ter)	VPS13A (R776*)	Single nucleotide variant (nonsense)	Chorea-acanthocytosis +1 more	GPathogenic
Select item 448864	NM_033305.3(VPS13A):c.4760A>G (p.Tyr1587Cys)	VPS13A (Y1587C +1 more)	Single nucleotide variant (missense variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 1028513	NM_033305.3(VPS13A):c.5157C>T (p.Gly1719=)	VPS13A	Single nucleotide variant (synonymous variant)	Chorea-acanthocytosis	GUncertain significance
Select item 1028514	NM_033305.3(VPS13A):c.5765C>A (p.Thr1922Asn)	VPS13A (T1922N +1 more)	Single nucleotide variant (missense variant)	Chorea-acanthocytosis +1 more	GUncertain significance
Select item 1028515	NM_033305.3(VPS13A):c.6818C>A (p.Ser2273Ter)	VPS13A (S2273* +1 more)	Single nucleotide variant (nonsense)	Chorea-acanthocytosis	GLikely pathogenic
Select item 367414	NM_033305.3(VPS13A):c.7490G>A (p.Arg2497His)	VPS13A (R2497H +1 more)	Single nucleotide variant (missense variant)	Chorea-acanthocytosis +1 more	GUncertain significance
Select item 625637	GRCh37/hg19 9q21.2-22.32(chr9:79520825-97201274)	AGTPBP1, ASPN +79 more	Copy number gain	not provided	GPathogenic

ClinVar