"Ambry Genetics"[submitter] AND "KRTAP9-4"[gene] - ClinVar

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 2244149	NM_033191.3(KRTAP9-4):c.19C>T (p.Pro7Ser)	KRTAP9-4 (P7S)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2378776	NM_033191.3(KRTAP9-4):c.158G>A (p.Arg53His)	KRTAP9-4 (R53H)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GLikely benign
Select item 2336315	NM_033191.3(KRTAP9-4):c.167G>T (p.Cys56Phe)	KRTAP9-4 (C56F)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2315960	NM_033191.3(KRTAP9-4):c.275A>G (p.Gln92Arg)	KRTAP9-4 (Q92R)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2469599	NM_033191.3(KRTAP9-4):c.352A>C (p.Asn118His)	KRTAP9-4 (N118H)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2600328	NM_033191.3(KRTAP9-4):c.391C>T (p.Arg131Cys)	KRTAP9-4 (R131C)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2397443	NM_033191.3(KRTAP9-4):c.427A>C (p.Thr143Pro)	KRTAP9-4 (T143P)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2476123	NM_033191.3(KRTAP9-4):c.432T>G (p.Cys144Trp)	KRTAP9-4 (C144W)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance

ClinVar