C4225186[trait identifier] AND "Baylor Genetics"[submitter] - ClinVar - NCBI

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Items: 5

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3238761	NM_020821.3(VPS13C):c.7721G>A (p.Arg2574Lys)	VPS13C (R2531K +1 more)	Single nucleotide variant (missense variant)	Autosomal recessive early-onset Parkinson disease 23	GUncertain significance
Select item 1030584	NM_020821.3(VPS13C):c.7274C>T (p.Thr2425Met)	VPS13C (T2425M +1 more)	Single nucleotide variant (missense variant)	Autosomal recessive early-onset Parkinson disease 23	GUncertain significance
Select item 3238850	NM_020821.3(VPS13C):c.3849C>A (p.Tyr1283Ter)	VPS13C (Y1240* +1 more)	Single nucleotide variant (nonsense)	Autosomal recessive early-onset Parkinson disease 23	GPathogenic
Select item 1030583	NM_020821.3(VPS13C):c.1483+1G>A	VPS13C	Single nucleotide variant (splice donor variant)	Autosomal recessive early-onset Parkinson disease 23	GLikely pathogenic
Select item 1029636	NM_020821.3(VPS13C):c.1409G>A (p.Arg470His)	VPS13C (R427H +1 more)	Single nucleotide variant (missense variant)	Autosomal recessive early-onset Parkinson disease 23 +1 more	GUncertain significance

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