C4087347[trait identifier] AND "O&I group, Department of Genetics, Uni - ClinVar - NCBI

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Items: 12

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 1298324	NM_018012.4(KIF26B):c.1340G>A (p.Gly447Glu)	KIF26B (G447E)	Single nucleotide variant (missense variant)	Autosomal dominant cerebellar ataxia	GUncertain significance
Select item 1298325	NM_018012.4(KIF26B):c.2023G>C (p.Asp675His)	KIF26B (D675H)	Single nucleotide variant (missense variant)	Autosomal dominant cerebellar ataxia	GUncertain significance
Select item 1298297	NM_018012.4(KIF26B):c.2605G>A (p.Gly869Arg)	KIF26B (G869R)	Single nucleotide variant (missense variant)	Autosomal dominant cerebellar ataxia	GUncertain significance
Select item 446270	NM_018012.4(KIF26B):c.5710G>A (p.Asp1904Asn)	KIF26B (D1904N)	Single nucleotide variant (missense variant)	Autosomal dominant cerebellar ataxia +1 more	GConflicting classifications of pathogenicity
Select item 1168111	NM_005245.4(FAT1):c.8991G>A (p.Thr2997=)	FAT1, LOC126807255	Single nucleotide variant (synonymous variant)	not provided +1 more	GBenign
Select item 1298319	NM_005245.4(FAT1):c.8041C>T (p.Pro2681Ser)	FAT1 (P2681S)	Single nucleotide variant (missense variant)	Autosomal dominant cerebellar ataxia	GUncertain significance
Select item 1050086	NM_005245.4(FAT1):c.7130C>T (p.Thr2377Met)	FAT1 (T2377M)	Single nucleotide variant (missense variant)	not provided +1 more	GLikely benign
Select item 1298320	NM_005245.4(FAT1):c.6808G>A (p.Asp2270Asn)	FAT1 (D2270N)	Single nucleotide variant (missense variant)	Autosomal dominant cerebellar ataxia	GUncertain significance
Select item 1298321	NM_005245.4(FAT1):c.5762G>T (p.Gly1921Val)	FAT1 (G1921V)	Single nucleotide variant (missense variant)	Autosomal dominant cerebellar ataxia	GUncertain significance
Select item 1298322	NM_005245.4(FAT1):c.1940C>T (p.Ala647Val)	FAT1 (A647V)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 1298323	NM_005245.4(FAT1):c.544G>A (p.Gly182Arg)	FAT1 (G182R)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1298318	NM_001429.4(EP300):c.214C>A (p.Gln72Lys)	EP300 (Q72K)	Single nucleotide variant (missense variant)	Inborn genetic diseases +2 more	GConflicting classifications of pathogenicity