"Genome-Nilou Lab"[submitter] AND "VPS13C"[gene] - ClinVar - NCBI

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Items: 9

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 1289923	NM_020821.3(VPS13C):c.10338+34C>T	VPS13C	Single nucleotide variant (intron variant)	Autosomal recessive early-onset Parkinson disease 23 +1 more	GBenign
Select item 1282382	NM_020821.3(VPS13C):c.8845-10del	VPS13C	Deletion (intron variant)	not provided +1 more	GBenign
Select item 1263857	NM_020821.3(VPS13C):c.8738G>A (p.Ser2913Asn)	VPS13C (S2870N +1 more)	Single nucleotide variant (missense variant)	Autosomal recessive early-onset Parkinson disease 23 +1 more	GBenign
Select item 1260629	NM_020821.3(VPS13C):c.7638+38C>T	VPS13C	Single nucleotide variant (intron variant)	Autosomal recessive early-onset Parkinson disease 23 +1 more	GBenign
Select item 1244323	NM_020821.3(VPS13C):c.6038+16G>A	VPS13C	Single nucleotide variant (intron variant)	Autosomal recessive early-onset Parkinson disease 23 +1 more	GBenign
Select item 1228183	NM_020821.3(VPS13C):c.4760-44T>A	VPS13C	Single nucleotide variant (intron variant)	Autosomal recessive early-onset Parkinson disease 23 +1 more	GBenign
Select item 1247553	NM_020821.3(VPS13C):c.3905A>G (p.Tyr1302Cys)	VPS13C (Y1259C +1 more)	Single nucleotide variant (missense variant)	Autosomal recessive early-onset Parkinson disease 23 +1 more	GBenign
Select item 1243337	NM_020821.3(VPS13C):c.2921G>A (p.Arg974Lys)	VPS13C (R931K +1 more)	Single nucleotide variant (missense variant)	not provided +1 more	GBenign
Select item 1255342	NM_020821.3(VPS13C):c.283+29A>G	VPS13C	Single nucleotide variant (intron variant)	not provided +1 more	GBenign