"Revvity Omics, Revvity"[submitter] AND "VPS13C"[gene] - ClinVar - NCBI

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Items: 11

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 2438537	NM_020821.3(VPS13C):c.10863+1553C>T	VPS13C	Single nucleotide variant (3 prime UTR variant +1 more)	Autosomal recessive early-onset Parkinson disease 23	GUncertain significance
Select item 1325346	NM_020821.3(VPS13C):c.10786_10792del (p.Pro3596fs)	VPS13C (P3553fs +1 more)	Deletion (frameshift variant)	Autosomal recessive early-onset Parkinson disease 23	GLikely pathogenic
Select item 1323753	NM_020821.3(VPS13C):c.10060G>T (p.Glu3354Ter)	VPS13C (E3311* +1 more)	Single nucleotide variant (nonsense)	Autosomal recessive early-onset Parkinson disease 23	GPathogenic
Select item 2690778	NM_020821.3(VPS13C):c.9481G>T (p.Glu3161Ter)	VPS13C (E3118* +1 more)	Single nucleotide variant (nonsense)	Autosomal recessive early-onset Parkinson disease 23	GLikely pathogenic
Select item 1325345	NM_020821.3(VPS13C):c.8806C>T (p.Arg2936Ter)	VPS13C (R2893* +1 more)	Single nucleotide variant (nonsense)	Autosomal recessive early-onset Parkinson disease 23	GLikely pathogenic
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 2438536	NM_020821.3(VPS13C):c.5971G>A (p.Val1991Ile)	VPS13C (V1948I +1 more)	Single nucleotide variant (missense variant)	Autosomal recessive early-onset Parkinson disease 23	GUncertain significance
Select item 1323755	NM_020821.3(VPS13C):c.5842_5843insATGA (p.Ile1948fs)	VPS13C (I1905fs +1 more)	Insertion (frameshift variant)	Autosomal recessive early-onset Parkinson disease 23	GPathogenic
Select item 2438538	NM_020821.3(VPS13C):c.3329A>G (p.Gln1110Arg)	VPS13C (Q1067R +1 more)	Single nucleotide variant (missense variant)	Autosomal recessive early-onset Parkinson disease 23	GUncertain significance
Select item 2434582	NM_020821.3(VPS13C):c.1193_1194del (p.Ile398fs)	VPS13C (I355fs +1 more)	Deletion (frameshift variant)	Autosomal recessive early-onset Parkinson disease 23	GLikely pathogenic
Select item 1517517	NM_020821.3(VPS13C):c.1126T>C (p.Tyr376His)	VPS13C (Y376H +1 more)	Single nucleotide variant (missense variant)	Autosomal recessive early-onset Parkinson disease 23 +1 more	GUncertain significance