"Fulgent Genetics, Fulgent Genetics"[submitter] AND "VPS13A"[gene] - ClinVar

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Items: 25

	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 367357	NM_033305.3(VPS13A):c.1758T>C (p.Ala586=)	VPS13A	Single nucleotide variant (synonymous variant)	not provided +2 more	GBenign/Likely benign
Select item 367360	NM_033305.3(VPS13A):c.2037+8C>A	VPS13A	Single nucleotide variant (intron variant)	Chorea-acanthocytosis +1 more	GBenign/Likely benign
Select item 989578	NM_033305.3(VPS13A):c.2089A>G (p.Asn697Asp)	VPS13A (N697D)	Single nucleotide variant (missense variant)	Chorea-acanthocytosis	GUncertain significance
Select item 367364	NM_033305.3(VPS13A):c.2201G>A (p.Ser734Asn)	VPS13A (S734N)	Single nucleotide variant (missense variant)	not provided +3 more	GConflicting classifications of pathogenicity
Select item 1456540	NM_033305.3(VPS13A):c.2500del (p.Val834fs)	VPS13A (V834fs)	Deletion (frameshift variant)	Chorea-acanthocytosis +1 more	GPathogenic/Likely pathogenic
Select item 703675	NM_033305.3(VPS13A):c.3075C>T (p.Ser1025=)	VPS13A	Single nucleotide variant (synonymous variant)	not provided +1 more	GLikely benign
Select item 367372	NM_033305.3(VPS13A):c.3083A>G (p.Glu1028Gly)	VPS13A (E1028G)	Single nucleotide variant (missense variant)	Chorea-acanthocytosis +1 more	GBenign/Likely benign
Select item 367381	NM_033305.3(VPS13A):c.4041C>T (p.Ala1347=)	VPS13A	Single nucleotide variant (synonymous variant)	Chorea-acanthocytosis +1 more	GBenign/Likely benign
Select item 1375001	NM_033305.3(VPS13A):c.4246dup (p.Ser1416fs)	VPS13A (S1377fs +1 more)	Duplication (frameshift variant)	not provided +1 more	GPathogenic/Likely pathogenic
Select item 1609634	NM_033305.3(VPS13A):c.4630+17A>G	VPS13A	Single nucleotide variant (intron variant)	Chorea-acanthocytosis +1 more	GBenign/Likely benign
Select item 1050337	NM_033305.3(VPS13A):c.5246C>T (p.Ser1749Leu)	VPS13A (S1710L +1 more)	Single nucleotide variant (missense variant)	Chorea-acanthocytosis +1 more	GUncertain significance
Select item 367391	NM_033305.3(VPS13A):c.5747G>A (p.Ser1916Asn)	VPS13A (S1916N +1 more)	Single nucleotide variant (missense variant)	Chorea-acanthocytosis +1 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)	Chorea-acanthocytosis +1 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 1409605	NM_033305.3(VPS13A):c.6096-3C>A	VPS13A	Single nucleotide variant (intron variant)	Chorea-acanthocytosis +1 more	GUncertain significance
Select item 4683	NM_033305.3(VPS13A):c.6404dup (p.Ser2136fs)	VPS13A (S2097fs +1 more)	Duplication (frameshift variant)	Chorea-acanthocytosis +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 448872	NM_033305.3(VPS13A):c.8225A>G (p.His2742Arg)	VPS13A (H2742R +1 more)	Single nucleotide variant (missense variant)	Chorea-acanthocytosis +2 more	GUncertain significance
Select item 1347984	NM_033305.3(VPS13A):c.8325+1G>A	VPS13A	Single nucleotide variant (splice donor variant)	Chorea-acanthocytosis +1 more	GLikely pathogenic
Select item 700465	NM_033305.3(VPS13A):c.8356A>C (p.Arg2786=)	VPS13A	Single nucleotide variant (synonymous variant)	not provided +1 more	GLikely benign
Select item 1069304	NM_033305.3(VPS13A):c.8375C>G (p.Ser2792Ter)	VPS13A (S2753* +1 more)	Single nucleotide variant (nonsense)	Chorea-acanthocytosis +1 more	GPathogenic/Likely pathogenic
Select item 834822	NM_033305.3(VPS13A):c.9109C>T (p.Arg3037Ter)	VPS13A (R2998* +1 more)	Single nucleotide variant (nonsense)	Chorea-acanthocytosis +1 more	GPathogenic
Select item 971066	NM_033305.3(VPS13A):c.9287_9290dup (p.Thr3098fs)	VPS13A (T3059fs +1 more)	Microsatellite (frameshift variant)	Chorea-acanthocytosis +1 more	GPathogenic
Select item 367433	NM_033305.3(VPS13A):c.9400-15A>C	VPS13A	Single nucleotide variant (intron variant)	Chorea-acanthocytosis +1 more	GBenign/Likely benign

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Items: 25