"PreventionGenetics, part of Exact Sciences"[submitter] AND "VPS13A"[g - ClinVar

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Items: 42

	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)	Chorea-acanthocytosis +2 more	GConflicting classifications of pathogenicity
Select item 698645	NM_033305.3(VPS13A):c.1269T>C (p.Asp423=)	VPS13A	Single nucleotide variant (synonymous variant)	VPS13A-related disorder +1 more	GLikely benign
Select item 3050141	NM_033305.3(VPS13A):c.1596-9_1596-8dup	VPS13A	Duplication (intron variant)	VPS13A-related disorder	GLikely benign
Select item 1299784	NM_033305.3(VPS13A):c.1596-8dup	VPS13A	Duplication (intron variant)	not provided +1 more	GBenign
Select item 913844	NM_033305.3(VPS13A):c.1785+7A>G	VPS13A	Single nucleotide variant (intron variant)	VPS13A-related disorder +2 more	GConflicting classifications of pathogenicity
Select item 1157276	NM_033305.3(VPS13A):c.2253T>G (p.Ser751=)	VPS13A	Single nucleotide variant (synonymous variant)	not provided +1 more	GLikely benign
Select item 698770	NM_033305.3(VPS13A):c.2676C>T (p.Ile892=)	VPS13A	Single nucleotide variant (synonymous variant)	VPS13A-related disorder +1 more	GLikely benign
Select item 912387	NM_033305.3(VPS13A):c.2693T>C (p.Val898Ala)	VPS13A (V898A)	Single nucleotide variant (missense variant)	VPS13A-related disorder +2 more	GBenign/Likely benign
Select item 3035939	NM_033305.3(VPS13A):c.2736A>T (p.Gly912=)	VPS13A	Single nucleotide variant (synonymous variant)	VPS13A-related disorder	GLikely benign
Select item 700146	NM_033305.3(VPS13A):c.3235+8A>G	VPS13A	Single nucleotide variant (intron variant)	VPS13A-related disorder +1 more	GLikely benign
Select item 1103910	NM_033305.3(VPS13A):c.3606A>G (p.Gln1202=)	VPS13A	Single nucleotide variant (synonymous variant)	not provided +1 more	GLikely benign
Select item 367377	NM_033305.3(VPS13A):c.3706C>T (p.Leu1236=)	VPS13A	Single nucleotide variant (synonymous variant)	Chorea-acanthocytosis +2 more	GConflicting classifications of pathogenicity
Select item 448861	NM_033305.3(VPS13A):c.4007A>T (p.His1336Leu)	VPS13A (H1336L +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases +2 more	GLikely benign
Select item 448863	NM_033305.3(VPS13A):c.4642G>A (p.Glu1548Lys)	VPS13A (E1548K +1 more)	Single nucleotide variant (missense variant)	Chorea-acanthocytosis +3 more	GLikely benign
Select item 700762	NM_033305.3(VPS13A):c.4950A>G (p.Thr1650=)	VPS13A	Single nucleotide variant (synonymous variant)	VPS13A-related disorder +1 more	GLikely benign
Select item 699590	NM_033305.3(VPS13A):c.5594C>T (p.Thr1865Ile)	VPS13A (T1826I +1 more)	Single nucleotide variant (missense variant)	Chorea-acanthocytosis +2 more	GBenign/Likely benign
Select item 367395	NM_033305.3(VPS13A):c.5884C>T (p.Arg1962Cys)	VPS13A (R1962C +1 more)	Single nucleotide variant (missense variant)	VPS13A-related disorder +2 more	GConflicting classifications of pathogenicity
Select item 448868	NM_033305.3(VPS13A):c.5979C>T (p.Arg1993=)	VPS13A	Single nucleotide variant (synonymous variant)	Chorea-acanthocytosis +2 more	GBenign/Likely benign
Select item 645922	NM_033305.3(VPS13A):c.6094C>T (p.Arg2032Ter)	VPS13A (R2032* +1 more)	Single nucleotide variant (nonsense)	VPS13A-related disorder +1 more	GPathogenic
Select item 696437	NM_033305.3(VPS13A):c.6252A>G (p.Glu2084=)	VPS13A	Single nucleotide variant (synonymous variant)	VPS13A-related disorder +1 more	GLikely benign
Select item 1131751	NM_033305.3(VPS13A):c.6339C>T (p.Leu2113=)	VPS13A	Single nucleotide variant (synonymous variant)	not provided +1 more	GLikely benign
Select item 695722	NM_033305.3(VPS13A):c.6541G>A (p.Val2181Ile)	VPS13A (V2142I +1 more)	Single nucleotide variant (missense variant)	VPS13A-related disorder +3 more	GConflicting classifications of pathogenicity
Select item 448869	NM_033305.3(VPS13A):c.6690C>T (p.Asp2230=)	VPS13A	Single nucleotide variant (synonymous variant)	not provided +1 more	GBenign/Likely benign
Select item 700226	NM_033305.3(VPS13A):c.6840T>C (p.His2280=)	VPS13A	Single nucleotide variant (synonymous variant)	Chorea-acanthocytosis +2 more	GConflicting classifications of pathogenicity
Select item 367407	NM_033305.3(VPS13A):c.7078G>A (p.Glu2360Lys)	VPS13A (E2360K +1 more)	Single nucleotide variant (missense variant)	Chorea-acanthocytosis +2 more	GConflicting classifications of pathogenicity
Select item 700763	NM_033305.3(VPS13A):c.7290-10A>G	VPS13A	Single nucleotide variant (intron variant)	VPS13A-related disorder +1 more	GLikely benign
Select item 518401	NM_033305.3(VPS13A):c.7456A>G (p.Ile2486Val)	VPS13A (I2486V +1 more)	Single nucleotide variant (missense variant)	not provided +2 more	GBenign/Likely benign
Select item 367413	NM_033305.3(VPS13A):c.7457T>C (p.Ile2486Thr)	VPS13A (I2486T +1 more)	Single nucleotide variant (missense variant)	Chorea-acanthocytosis +2 more	GConflicting classifications of pathogenicity
Select item 949342	NM_033305.3(VPS13A):c.7736_7739del (p.Arg2579fs)	VPS13A (R2540fs +1 more)	Microsatellite (frameshift variant)	not provided +1 more	GPathogenic/Likely pathogenic
Select item 695930	NM_033305.3(VPS13A):c.7920A>G (p.Gln2640=)	VPS13A	Single nucleotide variant (synonymous variant)	Chorea-acanthocytosis +2 more	GConflicting classifications of pathogenicity
Select item 698754	NM_033305.3(VPS13A):c.8016G>C (p.Lys2672Asn)	VPS13A (K2633N +1 more)	Single nucleotide variant (missense variant)	VPS13A-related disorder +1 more	GBenign/Likely benign
Select item 1981062	NM_033305.3(VPS13A):c.8036-9C>T	VPS13A	Single nucleotide variant (intron variant)	not provided +1 more	GLikely benign
Select item 700759	NM_033305.3(VPS13A):c.8211+5G>A	VPS13A	Single nucleotide variant (intron variant)	VPS13A-related disorder +1 more	GLikely benign
Select item 2108142	NM_033305.3(VPS13A):c.8212-9C>T	VPS13A	Single nucleotide variant (intron variant)	not provided +1 more	GLikely benign
Select item 1119302	NM_033305.3(VPS13A):c.8775C>T (p.Thr2925=)	VPS13A	Single nucleotide variant (synonymous variant)	not provided +1 more	GLikely benign
Select item 367427	NM_033305.3(VPS13A):c.9027A>G (p.Pro3009=)	VPS13A	Single nucleotide variant (synonymous variant)	Chorea-acanthocytosis +2 more	GBenign
Select item 698636	NM_033305.3(VPS13A):c.9119G>A (p.Arg3040Gln)	VPS13A (R3040Q +1 more)	Single nucleotide variant (missense variant)	VPS13A-related disorder +3 more	GConflicting classifications of pathogenicity
Select item 2659270	NM_033305.3(VPS13A):c.9189+2506A>G	VPS13A	Single nucleotide variant (synonymous variant +1 more)	not provided +1 more	GLikely benign
Select item 1174706	NM_033305.3(VPS13A):c.9189+2545TGA[10]	VPS13A (D3089del)	Microsatellite (inframe_deletion +1 more)	not provided +1 more	GBenign/Likely benign
Select item 552735	NM_033305.3(VPS13A):c.9189+2545TGA[9]	VPS13A	Microsatellite (inframe_deletion +1 more)	Chorea-acanthocytosis +1 more	GLikely benign
Select item 518402	NM_033305.3(VPS13A):c.9189+2545TGA[6]	VPS13A	Microsatellite (inframe_deletion +1 more)	VPS13A-related disorder +2 more	GBenign/Likely benign
Select item 518403	NM_033305.3(VPS13A):c.9370C>A (p.His3124Asn)	VPS13A (H3124N +1 more)	Single nucleotide variant (missense variant)	VPS13A-related disorder +2 more	GBenign

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Items: 42