"Ambry Genetics"[submitter] AND "KLK13"[gene] - ClinVar

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Items: 24

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 2395129	NM_015596.3(KLK13):c.776G>A (p.Arg259His)	KLK13 (R259H +2 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2240774	NM_015596.3(KLK13):c.775C>A (p.Arg259Ser)	KLK13 (R259S +2 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2369267	NM_015596.3(KLK13):c.749G>A (p.Arg250His)	KLK13 (R177H +2 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2525218	NM_015596.3(KLK13):c.688G>A (p.Gly230Ser)	KLK13 (G230S +2 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2533719	NM_015596.3(KLK13):c.572A>G (p.Gln191Arg)	KLK13 (Q118R +2 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2233350	NM_015596.3(KLK13):c.535G>A (p.Ala179Thr)	KLK13 (A27T +2 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2360377	NM_015596.3(KLK13):c.466A>C (p.Thr156Pro)	KLK13 (T156P)	Single nucleotide variant (missense variant +2 more)	Inborn genetic diseases	GUncertain significance
Select item 2258003	NM_015596.3(KLK13):c.439C>T (p.His147Tyr)	KLK13 (H147Y)	Single nucleotide variant (missense variant +2 more)	Inborn genetic diseases	GUncertain significance
Select item 2588467	NM_015596.3(KLK13):c.416A>C (p.Tyr139Ser)	KLK13 (Y139S)	Single nucleotide variant (missense variant +2 more)	Inborn genetic diseases	GUncertain significance
Select item 2542261	NM_015596.3(KLK13):c.406C>T (p.Leu136Phe)	KLK13 (L136F)	Single nucleotide variant (missense variant +2 more)	Inborn genetic diseases	GUncertain significance
Select item 2318480	NM_015596.3(KLK13):c.395C>A (p.Ser132Tyr)	KLK13 (S132Y)	Single nucleotide variant (missense variant +2 more)	Inborn genetic diseases	GUncertain significance
Select item 2291181	NM_015596.3(KLK13):c.392A>C (p.Gln131Pro)	KLK13 (Q131P)	Single nucleotide variant (missense variant +2 more)	Inborn genetic diseases	GUncertain significance
Select item 2258594	NM_015596.3(KLK13):c.349A>C (p.Thr117Pro)	KLK13 (T117P)	Single nucleotide variant (missense variant +2 more)	Inborn genetic diseases	GUncertain significance
Select item 2395113	NM_015596.3(KLK13):c.338G>A (p.Arg113Gln)	KLK13 (R113Q)	Single nucleotide variant (missense variant +2 more)	Inborn genetic diseases	GLikely benign
Select item 2616681	NM_015596.3(KLK13):c.329C>T (p.Pro110Leu)	KLK13 (P110L)	Single nucleotide variant (missense variant +2 more)	Inborn genetic diseases	GUncertain significance
Select item 2310808	NM_015596.3(KLK13):c.316T>G (p.Ser106Ala)	KLK13 (S106A)	Single nucleotide variant (missense variant +2 more)	Inborn genetic diseases	GUncertain significance
Select item 2524952	NM_015596.3(KLK13):c.280G>A (p.Val94Met)	KLK13 (V94M)	Single nucleotide variant (missense variant +2 more)	Inborn genetic diseases	GUncertain significance
Select item 2474994	NM_015596.3(KLK13):c.274G>T (p.Gly92Trp)	KLK13 (G92W)	Single nucleotide variant (missense variant +2 more)	Inborn genetic diseases	GUncertain significance
Select item 2621176	NM_015596.3(KLK13):c.259G>A (p.Gly87Ser)	KLK13 (G87S)	Single nucleotide variant (missense variant +2 more)	Inborn genetic diseases	GUncertain significance
Select item 2229797	NM_015596.3(KLK13):c.229T>C (p.Cys77Arg)	KLK13 (C77R)	Single nucleotide variant (missense variant +2 more)	Inborn genetic diseases	GUncertain significance
Select item 2389890	NM_015596.3(KLK13):c.223G>T (p.Ala75Ser)	KLK13 (A75S)	Single nucleotide variant (missense variant +2 more)	Inborn genetic diseases	GUncertain significance
Select item 2280605	NM_015596.3(KLK13):c.211G>C (p.Val71Leu)	KLK13 (V71L)	Single nucleotide variant (missense variant +2 more)	Inborn genetic diseases	GUncertain significance
Select item 2360349	NM_015596.3(KLK13):c.172C>T (p.Arg58Trp)	KLK13 (R58W)	Single nucleotide variant (missense variant +2 more)	Inborn genetic diseases	GUncertain significance
Select item 2290126	NM_015596.3(KLK13):c.155C>T (p.Ala52Val)	KLK13 (A52V)	Single nucleotide variant (missense variant +2 more)	Inborn genetic diseases	GUncertain significance

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Items: 24