Related gene-specific medical variations for Gene (Select 55187) - ClinVar

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3065182	NM_015378.4(VPS13D):c.1868A>G (p.Glu623Gly)	VPS13D (E623G)	Single nucleotide variant (missense variant)	Autosomal recessive cerebellar ataxia-saccadic intrusion syndrome	GUncertain significance
Select item 2438540	NM_015378.4(VPS13D):c.602C>G (p.Ala201Gly)	VPS13D (A201G)	Single nucleotide variant (missense variant)	Autosomal recessive cerebellar ataxia-saccadic intrusion syndrome	GUncertain significance
Select item 2438539	NM_015378.4(VPS13D):c.5455G>A (p.Val1819Met)	VPS13D (V1819M)	Single nucleotide variant (missense variant)	Autosomal recessive cerebellar ataxia-saccadic intrusion syndrome	GUncertain significance
Select item 2434589	NM_015378.4(VPS13D):c.5087dup (p.Pro1697fs)	VPS13D (P1697fs)	Duplication (frameshift variant)	Autosomal recessive cerebellar ataxia-saccadic intrusion syndrome	GLikely pathogenic
Select item 1251998	NM_015378.4(VPS13D):c.2020C>G (p.Arg674Gly)	VPS13D (R674G)	Single nucleotide variant (missense variant)	Non-immune hydrops fetalis	GUncertain significance
Select item 980393	GRCh37/hg19 1p36.22(chr1:12312411-12485090)x1	VPS13D	Copy number loss	not provided	GUncertain significance

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