"Mayo Clinic Laboratories, Mayo Clinic"[submitter] AND "VPS13A"[gene] - ClinVar - NCBI

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Items: 14

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3379870	NM_033305.3(VPS13A):c.26A>G (p.Asp9Gly)	VPS13A, VPS13A-AS1 (D9G)	Single nucleotide variant (non-coding transcript variant +1 more)	not provided	GUncertain significance
Select item 3379871	NM_033305.3(VPS13A):c.478A>G (p.Ile160Val)	VPS13A (I160V)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2682895	NM_033305.3(VPS13A):c.882+2T>G	VPS13A	Single nucleotide variant (splice donor variant)	not provided	GLikely pathogenic
Select item 3379872	NM_033305.3(VPS13A):c.2706A>T (p.Glu902Asp)	VPS13A (E902D)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3379873	NM_033305.3(VPS13A):c.3524T>C (p.Phe1175Ser)	VPS13A (F1136S +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3379874	NM_033305.3(VPS13A):c.4075A>G (p.Thr1359Ala)	VPS13A (T1320A +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 913939	NM_033305.3(VPS13A):c.5471A>G (p.Tyr1824Cys)	VPS13A (Y1785C +1 more)	Single nucleotide variant (missense variant)	Chorea-acanthocytosis +2 more	GConflicting classifications of pathogenicity
Select item 367393	NM_033305.3(VPS13A):c.5795C>A (p.Thr1932Asn)	VPS13A (T1932N +1 more)	Single nucleotide variant (missense variant)	Chorea-acanthocytosis +1 more	GUncertain significance
Select item 3379876	NM_033305.3(VPS13A):c.6035A>G (p.Asp2012Gly)	VPS13A (D1973G +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3379877	NM_033305.3(VPS13A):c.6797G>C (p.Ser2266Thr)	VPS13A (S2227T +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1299146	NM_033305.3(VPS13A):c.7690G>A (p.Ala2564Thr)	VPS13A (A2525T +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3379878	NM_033305.3(VPS13A):c.7945A>G (p.Arg2649Gly)	VPS13A (R2610G +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2200368	NM_033305.3(VPS13A):c.8341T>A (p.Ser2781Thr)	VPS13A (S2742T +1 more)	Single nucleotide variant (missense variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 367431	NM_033305.3(VPS13A):c.9314T>A (p.Leu3105His)	VPS13A (L3105H +1 more)	Single nucleotide variant (missense variant)	Chorea-acanthocytosis +1 more	GUncertain significance