"Ambry Genetics"[submitter] AND "KLK7"[gene] - ClinVar

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Items: 26

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 2480376	NM_005046.4(KLK7):c.720G>C (p.Lys240Asn)	KLK7 (K233N +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3115877	NM_005046.4(KLK7):c.623C>T (p.Pro208Leu)	KLK7 (P136L +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2405463	NM_005046.4(KLK7):c.595A>C (p.Asn199His)	KLK7 (N199H +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2405589	NM_005046.4(KLK7):c.533A>G (p.Lys178Arg)	KLK7 (K178R +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3289084	NM_005046.4(KLK7):c.527G>C (p.Cys176Ser)	KLK7 (C104S +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2289769	NM_005046.4(KLK7):c.515C>G (p.Ser172Cys)	KLK7 (S100C +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3115876	NM_005046.4(KLK7):c.496G>A (p.Val166Met)	KLK7 (V166M +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2256502	NM_005046.4(KLK7):c.493T>A (p.Cys165Ser)	KLK7 (C165S +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2598956	NM_005046.4(KLK7):c.468T>A (p.Asp156Glu)	KLK7 (D149E +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2373467	NM_005046.4(KLK7):c.458C>T (p.Thr153Met)	KLK7 (T153M +2 more)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 3289082	NM_005046.4(KLK7):c.430T>G (p.Cys144Gly)	KLK7 (C137G +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2208456	NM_005046.4(KLK7):c.415C>T (p.Pro139Ser)	KLK7 (P139S +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3115875	NM_005046.4(KLK7):c.376T>C (p.Ser126Pro)	KLK7 (S119P +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2541912	NM_005046.4(KLK7):c.341T>C (p.Met114Thr)	KLK7 (M42T +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2495894	NM_005046.4(KLK7):c.328G>A (p.Val110Ile)	KLK7 (V38I +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2542433	NM_005046.4(KLK7):c.307G>A (p.Gly103Ser)	KLK7 (G103S +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2472661	NM_005046.4(KLK7):c.275G>C (p.Arg92Thr)	KLK7 (R92T +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2208248	NM_005046.4(KLK7):c.261C>G (p.Asp87Glu)	KLK7 (D15E +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2393264	NM_005046.4(KLK7):c.232G>A (p.Val78Met)	KLK7 (V71M +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3289083	NM_005046.4(KLK7):c.188G>C (p.Arg63Pro)	KLK7 (R63P)	Single nucleotide variant (5 prime UTR variant +2 more)	not specified	GUncertain significance
Select item 3115874	NM_005046.4(KLK7):c.187C>T (p.Arg63Cys)	KLK7 (R63C)	Single nucleotide variant (5 prime UTR variant +2 more)	not specified	GUncertain significance
Select item 3115873	NM_005046.4(KLK7):c.182A>G (p.Asn61Ser)	KLK7 (N61S)	Single nucleotide variant (5 prime UTR variant +2 more)	not specified	GUncertain significance
Select item 3115872	NM_005046.4(KLK7):c.158T>C (p.Leu53Pro)	KLK7 (L53P)	Single nucleotide variant (5 prime UTR variant +2 more)	not specified	GUncertain significance
Select item 2491877	NM_005046.4(KLK7):c.151A>C (p.Asn51His)	KLK7 (N51H)	Single nucleotide variant (5 prime UTR variant +2 more)	not specified	GUncertain significance
Select item 2406272	NM_005046.4(KLK7):c.127T>C (p.Trp43Arg)	KLK7 (W43R)	Single nucleotide variant (5 prime UTR variant +2 more)	not specified	GUncertain significance
Select item 2300653	NM_005046.4(KLK7):c.26T>A (p.Leu9Gln)	KLK7 (L9Q)	Single nucleotide variant (synonymous variant +2 more)	not specified	GUncertain significance

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Items: 26