"Ambry Genetics"[submitter] AND "LOC126862019"[gene] - ClinVar - NCBI

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Items: 18

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 314823	NM_018319.4(TDP1):c.19T>C (p.Tyr7His)	LOC126862019, TDP1 (Y7H)	Single nucleotide variant (missense variant)	Spinocerebellar ataxia, autosomal recessive, with axonal neuropathy 1 +2 more	GUncertain significance
Select item 3325086	NM_018319.4(TDP1):c.20A>G (p.Tyr7Cys)	LOC126862019, TDP1 (Y7C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2340605	NM_018319.4(TDP1):c.91T>A (p.Ser31Thr)	LOC126862019, TDP1 (S31T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3175408	NM_018319.4(TDP1):c.166C>T (p.His56Tyr)	LOC126862019, TDP1 (H56Y)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2335778	NM_018319.4(TDP1):c.167A>G (p.His56Arg)	LOC126862019, TDP1 (H56R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2524953	NM_018319.4(TDP1):c.194T>A (p.Phe65Tyr)	LOC126862019, TDP1 (F65Y)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3325088	NM_018319.4(TDP1):c.206A>G (p.Asp69Gly)	LOC126862019, TDP1 (D69G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2623170	NM_018319.4(TDP1):c.256G>T (p.Gly86Cys)	LOC126862019, TDP1 (G86C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2540034	NM_018319.4(TDP1):c.276T>G (p.Ser92Arg)	LOC126862019, TDP1 (S92R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3175410	NM_018319.4(TDP1):c.298A>G (p.Met100Val)	LOC126862019, TDP1 (M100V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3175411	NM_018319.4(TDP1):c.322G>A (p.Val108Met)	LOC126862019, TDP1 (V108M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2555636	NM_018319.4(TDP1):c.330C>G (p.Ile110Met)	LOC126862019, TDP1 (I110M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2238675	NM_018319.4(TDP1):c.338A>G (p.Glu113Gly)	LOC126862019, TDP1 (E113G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 995029	NM_018319.4(TDP1):c.370G>A (p.Ala124Thr)	LOC126862019, TDP1 (A124T)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 3175412	NM_018319.4(TDP1):c.379A>G (p.Thr127Ala)	LOC126862019, TDP1 (T127A)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2266998	NM_018319.4(TDP1):c.389A>G (p.His130Arg)	LOC126862019, TDP1 (H130R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2280644	NM_018319.4(TDP1):c.512T>C (p.Val171Ala)	LOC126862019, TDP1 (V171A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3325084	NM_018319.4(TDP1):c.529A>G (p.Lys177Glu)	LOC126862019, TDP1 (K177E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance