Related gene-specific medical variations for Gene (Select 54832) - ClinVar - NCBI

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Items: 15

	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 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
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 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 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 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 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 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 2186145	NM_020821.3(VPS13C):c.50A>G (p.Asp17Gly)	LOC130057212, VPS13C (D17G)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1426168	NM_020821.3(VPS13C):c.10G>C (p.Glu4Gln)	LOC130057212, VPS13C (E4Q)	Single nucleotide variant (missense variant)	not provided	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 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 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 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 744496	NM_020821.3(VPS13C):c.54T>C (p.Tyr18=)	LOC130057212, VPS13C	Single nucleotide variant (synonymous variant)	not provided	GLikely benign