"Ambry Genetics"[submitter] AND "KRTAP4-4"[gene] - ClinVar - NCBI

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Items: 12

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 2209886	NM_032524.2(KRTAP4-4):c.397C>A (p.Pro133Thr)	KRTAP4-4 (P133T +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2262348	NM_032524.2(KRTAP4-4):c.322C>A (p.Pro108Thr)	KRTAP4-4 (P48T +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2536067	NM_032524.2(KRTAP4-4):c.286T>C (p.Cys96Arg)	KRTAP4-4 (C96R)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2516754	NM_032524.2(KRTAP4-4):c.243C>G (p.Cys81Trp)	KRTAP4-4 (C81W)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2607620	NM_032524.2(KRTAP4-4):c.172A>T (p.Thr58Ser)	KRTAP4-4 (T58S)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2529874	NM_032524.2(KRTAP4-4):c.131G>C (p.Ser44Thr)	KRTAP4-4 (S44T)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2548687	NM_032524.2(KRTAP4-4):c.119G>T (p.Cys40Phe)	KRTAP4-4 (C40F)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2253758	NM_032524.2(KRTAP4-4):c.112C>T (p.Pro38Ser)	KRTAP4-4 (P38S)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2271980	NM_032524.2(KRTAP4-4):c.70A>G (p.Ser24Gly)	KRTAP4-4 (S24G)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2523103	NM_032524.2(KRTAP4-4):c.62G>C (p.Cys21Ser)	KRTAP4-4 (C21S)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2600327	NM_032524.2(KRTAP4-4):c.25G>A (p.Val9Met)	KRTAP4-4 (V9M)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2293587	NM_032524.2(KRTAP4-4):c.8A>G (p.Asn3Ser)	KRTAP4-4 (N3S)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GLikely benign