"Ambry Genetics"[submitter] AND "KRTAP4-3"[gene] - ClinVar - NCBI

Warning: The NCBI web site requires JavaScript to function. more...

Search results

Items: 11

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 2326462	NM_033187.2(KRTAP4-3):c.504C>A (p.Ser168Arg)	KRTAP4-3 (S168R)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2233352	NM_033187.2(KRTAP4-3):c.474T>G (p.Ser158Arg)	KRTAP4-3 (S158R)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2382659	NM_033187.2(KRTAP4-3):c.455C>T (p.Pro152Leu)	KRTAP4-3 (P152L)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2507920	NM_033187.2(KRTAP4-3):c.452G>A (p.Arg151His)	KRTAP4-3 (R151H)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2293561	NM_033187.2(KRTAP4-3):c.397A>T (p.Ser133Cys)	KRTAP4-3 (S133C)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2509447	NM_033187.2(KRTAP4-3):c.392G>A (p.Arg131His)	KRTAP4-3 (R131H)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2622878	NM_033187.2(KRTAP4-3):c.365C>T (p.Pro122Leu)	KRTAP4-3 (P122L)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2288370	NM_033187.2(KRTAP4-3):c.289A>G (p.Thr97Ala)	KRTAP4-3 (T97A)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2458698	NM_033187.2(KRTAP4-3):c.125C>A (p.Pro42His)	KRTAP4-3 (P42H)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2279839	NM_033187.2(KRTAP4-3):c.107G>C (p.Arg36Thr)	KRTAP4-3 (R36T)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2495698	NM_033187.2(KRTAP4-3):c.10T>G (p.Ser4Ala)	KRTAP4-3 (S4A)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance