"Genome-Nilou Lab"[submitter] AND "VPS13A"[gene] - ClinVar

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Items: 38

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 1185252	NM_033305.3(VPS13A):c.101-62A>G	VPS13A	Single nucleotide variant (intron variant)	not provided +1 more	GBenign
Select item 1185253	NM_033305.3(VPS13A):c.615+20G>C	VPS13A	Single nucleotide variant (intron variant)	not provided +1 more	GBenign/Likely benign
Select item 1185254	NM_033305.3(VPS13A):c.616-47A>T	VPS13A	Single nucleotide variant (intron variant)	Chorea-acanthocytosis	GLikely benign
Select item 1185255	NM_033305.3(VPS13A):c.883-16A>C	VPS13A	Single nucleotide variant (intron variant)	not provided +1 more	GBenign
Select item 1185256	NM_033305.3(VPS13A):c.1596-31C>T	VPS13A	Single nucleotide variant (intron variant)	not provided +1 more	GBenign
Select item 1185257	NM_033305.3(VPS13A):c.1901-215G>A	VPS13A	Single nucleotide variant (intron variant)	not provided +1 more	GBenign
Select item 1185258	NM_033305.3(VPS13A):c.2037+191T>C	VPS13A	Single nucleotide variant (intron variant)	not provided +1 more	GBenign
Select item 1185259	NM_033305.3(VPS13A):c.2170+42G>A	VPS13A	Single nucleotide variant (intron variant)	not provided +1 more	GBenign
Select item 1262560	NM_033305.3(VPS13A):c.2288+20T>C	VPS13A	Single nucleotide variant (intron variant)	Chorea-acanthocytosis +1 more	GBenign
Select item 1185285	NM_033305.3(VPS13A):c.2428-50G>A	VPS13A	Single nucleotide variant (intron variant)	Chorea-acanthocytosis +1 more	GBenign
Select item 1185286	NM_033305.3(VPS13A):c.2512+116A>G	VPS13A	Single nucleotide variant (intron variant)	Chorea-acanthocytosis +1 more	GBenign
Select item 1185287	NM_033305.3(VPS13A):c.2825-63T>G	VPS13A	Single nucleotide variant (intron variant)	Chorea-acanthocytosis +1 more	GBenign
Select item 367371	NM_033305.3(VPS13A):c.3045G>A (p.Pro1015=)	VPS13A	Single nucleotide variant (synonymous variant)	not provided +1 more	GBenign
Select item 1185288	NM_033305.3(VPS13A):c.3118+66A>C	VPS13A	Single nucleotide variant (intron variant)	Chorea-acanthocytosis	GBenign
Select item 586929	NM_033305.3(VPS13A):c.3356G>A (p.Gly1119Glu)	VPS13A (G1119E +1 more)	Single nucleotide variant (missense variant)	not provided +1 more	GBenign/Likely benign
Select item 1185289	NM_033305.3(VPS13A):c.3508-51A>G	VPS13A	Single nucleotide variant (intron variant)	Chorea-acanthocytosis +1 more	GBenign
Select item 1185290	NM_033305.3(VPS13A):c.3508-44G>T	VPS13A	Single nucleotide variant (intron variant)	not provided +1 more	GBenign
Select item 367376	NM_033305.3(VPS13A):c.3645C>A (p.Ala1215=)	VPS13A	Single nucleotide variant (synonymous variant)	not provided +1 more	GBenign/Likely benign
Select item 1185291	NM_033305.3(VPS13A):c.3813-171C>G	VPS13A	Single nucleotide variant (intron variant)	not provided +1 more	GBenign
Select item 1185292	NM_033305.3(VPS13A):c.3961-22A>G	VPS13A	Single nucleotide variant (intron variant)	not provided +1 more	GBenign
Select item 367379	NM_033305.3(VPS13A):c.3961-6dup	VPS13A	Duplication (intron variant)	Chorea-acanthocytosis +1 more	GBenign
Select item 367389	NM_033305.3(VPS13A):c.5583A>G (p.Thr1861=)	VPS13A	Single nucleotide variant (synonymous variant)	not provided +1 more	GBenign
Select item 1209668	NM_033305.3(VPS13A):c.5855A>G (p.Asp1952Gly)	VPS13A (D1913G +1 more)	Single nucleotide variant (missense variant)	Chorea-acanthocytosis	GUncertain significance
Select item 367396	NM_033305.3(VPS13A):c.6027C>T (p.Tyr2009=)	VPS13A	Single nucleotide variant (synonymous variant)	Chorea-acanthocytosis +1 more	GBenign
Select item 367399	NM_033305.3(VPS13A):c.6378+15A>T	VPS13A	Single nucleotide variant (intron variant)	Chorea-acanthocytosis +1 more	GBenign
Select item 1185293	NM_033305.3(VPS13A):c.6379-27G>T	VPS13A	Single nucleotide variant (intron variant)	Chorea-acanthocytosis +1 more	GBenign
Select item 367402	NM_033305.3(VPS13A):c.6492T>C (p.Asp2164=)	VPS13A	Single nucleotide variant (synonymous variant)	Chorea-acanthocytosis +1 more	GBenign
Select item 1185294	NM_033305.3(VPS13A):c.7026+62A>G	VPS13A	Single nucleotide variant (intron variant)	not provided +1 more	GBenign
Select item 1185295	NM_033305.3(VPS13A):c.7027-54A>G	VPS13A	Single nucleotide variant (intron variant)	Chorea-acanthocytosis +1 more	GBenign
Select item 367408	NM_033305.3(VPS13A):c.7096C>T (p.Pro2366Ser)	VPS13A (P2366S +1 more)	Single nucleotide variant (missense variant)	Chorea-acanthocytosis +1 more	GUncertain significance
Select item 912510	NM_033305.3(VPS13A):c.7850C>T (p.Pro2617Leu)	VPS13A (P2578L +1 more)	Single nucleotide variant (missense variant)	Chorea-acanthocytosis +1 more	GUncertain significance
Select item 1185162	NM_033305.3(VPS13A):c.8105+81G>A	VPS13A	Single nucleotide variant (intron variant)	Chorea-acanthocytosis +1 more	GBenign
Select item 1185163	NM_033305.3(VPS13A):c.8553+31G>C	VPS13A	Single nucleotide variant (intron variant)	Chorea-acanthocytosis +1 more	GBenign
Select item 367423	NM_033305.3(VPS13A):c.8571T>C (p.Tyr2857=)	VPS13A	Single nucleotide variant (synonymous variant)	Chorea-acanthocytosis +1 more	GBenign
Select item 1185164	NM_033305.3(VPS13A):c.8667+106A>G	VPS13A	Single nucleotide variant (intron variant)	Chorea-acanthocytosis +1 more	GBenign
Select item 367428	NM_033305.3(VPS13A):c.9069A>G (p.Gly3023=)	VPS13A	Single nucleotide variant (synonymous variant)	Chorea-acanthocytosis +1 more	GBenign
Select item 1185165	NM_033305.3(VPS13A):c.9078-133A>G	VPS13A	Single nucleotide variant (intron variant)	not provided +1 more	GBenign
Select item 1185166	NM_033305.3(VPS13A):c.9400-34A>T	VPS13A	Single nucleotide variant (intron variant)	not provided +1 more	GBenign

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Items: 38