"Ambry Genetics"[submitter] AND "KRTAP4-1"[gene] - ClinVar

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 2396019	NM_001386841.1(KRTAP4-1):c.398G>A (p.Arg133His)	KRTAP4-1 (R114H +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2476625	NM_001386841.1(KRTAP4-1):c.380G>C (p.Cys127Ser)	KRTAP4-1 (C127S +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2237132	NM_001386841.1(KRTAP4-1):c.209G>T (p.Cys70Phe)	KRTAP4-1 (C70F)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2479436	NM_001386841.1(KRTAP4-1):c.98C>G (p.Thr33Ser)	KRTAP4-1 (T33S)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2243867	NM_001386841.1(KRTAP4-1):c.84C>G (p.Ser28Arg)	KRTAP4-1 (S28R)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2396128	NM_001386841.1(KRTAP4-1):c.77G>A (p.Arg26His)	KRTAP4-1 (R26H)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance

ClinVar