"Ambry Genetics"[submitter] AND "KRTAP13-3"[gene] - ClinVar - NCBI

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

Search results

Items: 9

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 2487892	NM_181622.2(KRTAP13-3):c.487T>C (p.Tyr163His)	KRTAP13-3 (Y163H)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2619354	NM_181622.2(KRTAP13-3):c.458C>T (p.Pro153Leu)	KRTAP13-3 (P153L)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2568810	NM_181622.2(KRTAP13-3):c.450C>G (p.Ile150Met)	KRTAP13-3 (I150M)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2335642	NM_181622.2(KRTAP13-3):c.341C>A (p.Ser114Tyr)	KRTAP13-3 (S114Y)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2282125	NM_181622.2(KRTAP13-3):c.170A>G (p.Gln57Arg)	KRTAP13-3 (Q57R)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2607926	NM_181622.2(KRTAP13-3):c.157T>C (p.Tyr53His)	KRTAP13-3 (Y53H)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2610404	NM_181622.2(KRTAP13-3):c.118C>A (p.Leu40Ile)	KRTAP13-3 (L40I)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2254762	NM_181622.2(KRTAP13-3):c.62A>G (p.Tyr21Cys)	KRTAP13-3 (Y21C)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2545895	NM_181622.2(KRTAP13-3):c.43C>T (p.His15Tyr)	KRTAP13-3 (H15Y)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance