"Revvity Omics, Revvity"[submitter] AND "VPS13A"[gene] - ClinVar - NCBI

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Items: 17

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 1325340	NM_033305.3(VPS13A):c.14C>A (p.Ser5Ter)	VPS13A, VPS13A-AS1 (S5*)	Single nucleotide variant (non-coding transcript variant +1 more)	Chorea-acanthocytosis	GLikely pathogenic
Select item 2415079	NM_033305.3(VPS13A):c.811G>T (p.Asp271Tyr)	VPS13A (D271Y)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 2434520	NM_033305.3(VPS13A):c.844_848del (p.Glu282fs)	VPS13A (E282fs)	Deletion (frameshift variant)	Chorea-acanthocytosis	GLikely pathogenic
Select item 2136781	NM_033305.3(VPS13A):c.1616C>G (p.Ser539Ter)	VPS13A (S539*)	Single nucleotide variant (nonsense)	not provided +1 more	GPathogenic/Likely pathogenic
Select item 695295	NM_033305.3(VPS13A):c.5047A>G (p.Thr1683Ala)	VPS13A (T1683A +1 more)	Single nucleotide variant (missense variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 367395	NM_033305.3(VPS13A):c.5884C>T (p.Arg1962Cys)	VPS13A (R1962C +1 more)	Single nucleotide variant (missense variant)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 838917	NM_033305.3(VPS13A):c.6059del (p.Pro2020fs)	VPS13A (P1981fs +1 more)	Deletion (frameshift variant)	Chorea-acanthocytosis +1 more	GPathogenic
Select item 2438528	NM_033305.3(VPS13A):c.6297G>C (p.Trp2099Cys)	VPS13A (W2060C +1 more)	Single nucleotide variant (missense variant)	Chorea-acanthocytosis	GUncertain significance
Select item 1323749	NM_033305.3(VPS13A):c.6367_6374del (p.Tyr2123fs)	VPS13A (Y2084fs +1 more)	Deletion (frameshift variant)	Chorea-acanthocytosis	GPathogenic
Select item 2690776	NM_033305.3(VPS13A):c.7027-1G>A	VPS13A	Single nucleotide variant (splice acceptor variant)	Chorea-acanthocytosis	GLikely pathogenic
Select item 367408	NM_033305.3(VPS13A):c.7096C>T (p.Pro2366Ser)	VPS13A (P2366S +1 more)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 1323748	NM_033305.3(VPS13A):c.7419+1G>A	VPS13A	Single nucleotide variant (splice donor variant)	not provided +1 more	GPathogenic/Likely pathogenic
Select item 1458998	NM_033305.3(VPS13A):c.7867C>T (p.Arg2623Ter)	VPS13A (R2584* +1 more)	Single nucleotide variant (nonsense)	Chorea-acanthocytosis +1 more	GPathogenic/Likely pathogenic
Select item 2690777	NM_033305.3(VPS13A):c.8744-2A>G	VPS13A	Single nucleotide variant (splice acceptor variant)	Chorea-acanthocytosis	GLikely pathogenic
Select item 915253	NM_033305.3(VPS13A):c.9128A>G (p.Asn3043Ser)	VPS13A (N3004S +1 more)	Single nucleotide variant (missense variant)	Chorea-acanthocytosis	GUncertain significance
Select item 2434537	NM_033305.3(VPS13A):c.9243_9246del (p.Asn3082fs)	VPS13A (N3043fs +1 more)	Deletion (frameshift variant)	Chorea-acanthocytosis	GLikely pathogenic
Select item 426695	NM_033305.3(VPS13A):c.9431_9432del (p.Glu3144fs)	VPS13A (E3105fs +1 more)	Microsatellite (frameshift variant)	not provided +1 more	GPathogenic/Likely pathogenic