C4225186[trait identifier] AND "Center for Genomic Medicine, King Fais - ClinVar - NCBI

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Items: 4

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3068084	NM_020821.3(VPS13C):c.10414+1G>A	VPS13C	Single nucleotide variant (splice donor variant)	Autosomal recessive early-onset Parkinson disease 23	GLikely pathogenic
Select item 3064720	NM_020821.3(VPS13C):c.9019C>T (p.Arg3007Ter)	VPS13C (R2964* +1 more)	Single nucleotide variant (nonsense)	Autosomal recessive early-onset Parkinson disease 23	GLikely pathogenic
Select item 2880695	NM_020821.3(VPS13C):c.5868+1G>A	VPS13C	Single nucleotide variant (splice donor variant)	not provided +1 more	GLikely pathogenic
Select item 3065269	NM_020821.3(VPS13C):c.5756-1G>T	VPS13C	Single nucleotide variant (splice acceptor variant)	Autosomal recessive early-onset Parkinson disease 23	GLikely pathogenic

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