"Baylor Genetics"[submitter] AND "VPS13D"[gene] - ClinVar - NCBI

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Items: 15

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 1029392	NM_015378.4(VPS13D):c.293A>G (p.Asn98Ser)	VPS13D (N98S)	Single nucleotide variant (missense variant)	Autosomal recessive cerebellar ataxia-saccadic intrusion syndrome +1 more	GUncertain significance
Select item 1029394	NM_015378.4(VPS13D):c.530A>G (p.Lys177Arg)	VPS13D (K177R)	Single nucleotide variant (missense variant)	Autosomal recessive cerebellar ataxia-saccadic intrusion syndrome	GUncertain significance
Select item 1029395	NM_015378.4(VPS13D):c.614T>C (p.Ile205Thr)	VPS13D (I205T)	Single nucleotide variant (missense variant)	Autosomal recessive cerebellar ataxia-saccadic intrusion syndrome +2 more	GUncertain significance
Select item 1029390	NM_015378.4(VPS13D):c.1183C>T (p.Arg395Ter)	VPS13D (R395*)	Single nucleotide variant (nonsense)	Autosomal recessive cerebellar ataxia-saccadic intrusion syndrome	GLikely pathogenic
Select item 1321731	NM_015378.4(VPS13D):c.1414+5G>A	VPS13D	Single nucleotide variant (intron variant)	Autosomal recessive cerebellar ataxia-saccadic intrusion syndrome +1 more	GConflicting classifications of pathogenicity
Select item 1029393	NM_015378.4(VPS13D):c.4451-16A>G	VPS13D	Single nucleotide variant (intron variant)	Autosomal recessive cerebellar ataxia-saccadic intrusion syndrome	GUncertain significance
Select item 1905449	NM_015378.4(VPS13D):c.6965A>G (p.Tyr2322Cys)	VPS13D (Y2322C)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 1029396	NM_015378.4(VPS13D):c.8363C>G (p.Pro2788Arg)	VPS13D (P2788R)	Single nucleotide variant (missense variant)	Autosomal recessive cerebellar ataxia-saccadic intrusion syndrome +2 more	GUncertain significance
Select item 1029397	NM_015378.4(VPS13D):c.9157A>G (p.Ile3053Val)	VPS13D (I3028V +1 more)	Single nucleotide variant (missense variant)	Autosomal recessive cerebellar ataxia-saccadic intrusion syndrome +1 more	GUncertain significance
Select item 1308623	NM_015378.4(VPS13D):c.9737A>G (p.Gln3246Arg)	VPS13D (Q3221R +1 more)	Single nucleotide variant (missense variant)	not provided +2 more	GUncertain significance
Select item 1027981	NM_015378.4(VPS13D):c.10169G>A (p.Arg3390Gln)	VPS13D (R3365Q +1 more)	Single nucleotide variant (missense variant)	Autosomal recessive cerebellar ataxia-saccadic intrusion syndrome +1 more	GUncertain significance
Select item 1314358	NM_015378.4(VPS13D):c.10558G>T (p.Asp3520Tyr)	VPS13D (D3495Y +1 more)	Single nucleotide variant (missense variant)	Autosomal recessive cerebellar ataxia-saccadic intrusion syndrome +1 more	GUncertain significance
Select item 1029391	NM_015378.4(VPS13D):c.12227G>A (p.Gly4076Glu)	VPS13D (G4051E +1 more)	Single nucleotide variant (missense variant)	Autosomal recessive cerebellar ataxia-saccadic intrusion syndrome	GUncertain significance
Select item 2275456	NM_015378.4(VPS13D):c.12260G>A (p.Gly4087Glu)	VPS13D (G4062E +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 625539	GRCh37/hg19 1p36.22-36.21(chr1:11690766-12835739)	AADACL3, AADACL4 +21 more	Copy number loss	not provided	GPathogenic