KLK3[gene] - ClinVar

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Items: 64

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 59116	GRCh38/hg38 19q13.33-13.43(chr19:47908540-58539965)x3	LOC130064925, LOC130064926 +1081 more	Copy number gain	See cases	GPathogenic
Select item 59117	GRCh38/hg38 19q13.33-13.43(chr19:47929575-58572206)x3	LOC130064903, LOC130064904 +1093 more	Copy number gain	See cases	GPathogenic
Select item 59126	GRCh38/hg38 19q13.33-13.43(chr19:49907832-58557889)x3	LOC130065082, LOC130065083 +806 more	Copy number gain	See cases	GPathogenic
Select item 146579	GRCh38/hg38 19q13.33-13.43(chr19:50152520-58581203)x3	OSCAR, PEG3 +782 more	Copy number gain	See cases	GPathogenic
Select item 57219	GRCh38/hg38 19q13.33-13.43(chr19:50191219-58535818)x3	LOC130065034, LOC130065035 +761 more	Copy number gain	See cases	GPathogenic
Select item 2389792	NM_001648.2(KLK3):c.38C>T (p.Thr13Met)	KLK3 (T13M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3035909	NM_001648.2(KLK3):c.47-9C>G	KLK3	Single nucleotide variant (intron variant)	KLK3-related disorder	GLikely benign
Select item 3059788	NM_001648.2(KLK3):c.48T>C (p.Gly16=)	KLK3	Single nucleotide variant (synonymous variant)	KLK3-related disorder	GBenign
Select item 3060459	NM_001648.2(KLK3):c.54A>G (p.Ala18=)	KLK3	Single nucleotide variant (synonymous variant)	KLK3-related disorder	GBenign
Select item 2396176	NM_001648.2(KLK3):c.71G>A (p.Arg24Gln)	KLK3 (R24Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 784838	NM_001648.2(KLK3):c.94G>A (p.Glu32Lys)	KLK3 (E32K)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 2352647	NM_001648.2(KLK3):c.110C>A (p.Pro37His)	KLK3 (P37H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 827592	NM_001648.2(KLK3):c.116dup (p.Val40fs)	KLK3 (V40fs)	Duplication (frameshift variant)	Hereditary angioedema with normal C1Inh	Gnot provided
Select item 778603	NM_001648.2(KLK3):c.116A>T (p.Gln39Leu)	KLK3 (Q39L)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 3056767	NM_001648.2(KLK3):c.117G>A (p.Gln39=)	KLK3	Single nucleotide variant (synonymous variant)	KLK3-related disorder	GBenign
Select item 2365156	NM_001648.2(KLK3):c.128C>A (p.Ala43Asp)	KLK3 (A43D)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2390038	NM_001648.2(KLK3):c.134G>A (p.Arg45His)	KLK3 (R45H)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2303623	NM_001648.2(KLK3):c.145G>C (p.Val49Leu)	KLK3 (V49L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3115851	NM_001648.2(KLK3):c.154G>A (p.Gly52Ser)	KLK3 (G52S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2480775	NM_001648.2(KLK3):c.164T>G (p.Val55Gly)	KLK3 (V55G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2622749	NM_001648.2(KLK3):c.167A>G (p.His56Arg)	KLK3 (H56R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2301793	NM_001648.2(KLK3):c.196T>C (p.Cys66Arg)	KLK3 (C66R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2382499	NM_001648.2(KLK3):c.234C>G (p.His78Gln)	KLK3 (H78Q)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3057076	NM_001648.2(KLK3):c.237C>T (p.Ser79=)	KLK3	Single nucleotide variant (synonymous variant +1 more)	KLK3-related disorder	GBenign
Select item 3115852	NM_001648.2(KLK3):c.260G>A (p.Gly87Asp)	KLK3 (G87D)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3115853	NM_001648.2(KLK3):c.323A>C (p.Asn108Thr)	KLK3 (N108T)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3115854	NM_001648.2(KLK3):c.326G>A (p.Arg109Gln)	KLK3 (R109Q)	Single nucleotide variant (missense variant +1 more)	not specified	GLikely benign
Select item 3350527	NM_001648.2(KLK3):c.357C>T (p.His119=)	KLK3	Single nucleotide variant (synonymous variant)	KLK3-related disorder	GLikely benign
Select item 3052696	NM_001648.2(KLK3):c.373C>T (p.Arg125Cys)	KLK3 (R125C +1 more)	Single nucleotide variant (missense variant)	KLK3-related disorder	GBenign
Select item 3056698	NM_001648.2(KLK3):c.394C>A (p.Leu132Ile)	KLK3 (L132I +1 more)	Single nucleotide variant (missense variant)	KLK3-related disorder	GBenign
Select item 2330092	NM_001648.2(KLK3):c.403G>A (p.Ala135Thr)	KLK3 (A135T +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3041951	NM_001648.2(KLK3):c.447G>A (p.Gly149=)	KLK3	Single nucleotide variant (synonymous variant)	KLK3-related disorder	GLikely benign
Select item 3042419	NM_001648.2(KLK3):c.459C>T (p.Tyr153=)	KLK3	Single nucleotide variant (synonymous variant)	KLK3-related disorder	GLikely benign
Select item 3115855	NM_001648.2(KLK3):c.494T>C (p.Phe165Ser)	KLK3 (F122S +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3289078	NM_001648.2(KLK3):c.518G>A (p.Cys173Tyr)	KLK3 (C130Y +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 722680	NM_001648.2(KLK3):c.531T>C (p.His177=)	KLK3	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2312737	NM_001648.2(KLK3):c.545A>T (p.Asp182Val)	KLK3 (D139V +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2386332	NM_001648.2(KLK3):c.593G>T (p.Cys198Phe)	KLK3 (C198F +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2289192	NM_001648.2(KLK3):c.601C>T (p.Arg201Cys)	KLK3 (R158C +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2404469	NM_001648.2(KLK3):c.602G>A (p.Arg201His)	KLK3 (R158H +1 more)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 3038816	NM_001648.2(KLK3):c.629C>G (p.Ser210Trp)	KLK3 (S167W +1 more)	Single nucleotide variant (missense variant)	KLK3-related disorder	GLikely benign
Select item 3055674	NM_001648.2(KLK3):c.631-425C>T	KLK3	Single nucleotide variant (synonymous variant +1 more)	KLK3-related disorder	GBenign
Select item 3057205	NM_001648.2(KLK3):c.631-424G>A	KLK3 (E217K)	Single nucleotide variant (missense variant +1 more)	KLK3-related disorder	GBenign
Select item 3043948	NM_001648.2(KLK3):c.645C>G (p.Gly215=)	KLK3	Single nucleotide variant (3 prime UTR variant +1 more)	KLK3-related disorder	GLikely benign
Select item 2331918	NM_001648.2(KLK3):c.661G>C (p.Gly221Arg)	KLK3 (G221R +1 more)	Single nucleotide variant (3 prime UTR variant +1 more)	not specified	GUncertain significance
Select item 3289079	NM_001648.2(KLK3):c.667C>T (p.Leu223Phe)	KLK3 (L180F +1 more)	Single nucleotide variant (3 prime UTR variant +1 more)	not specified	GUncertain significance
Select item 2405938	NM_001648.2(KLK3):c.680C>T (p.Thr227Met)	KLK3 (T227M +1 more)	Single nucleotide variant (3 prime UTR variant +1 more)	not specified	GUncertain significance
Select item 790764	NM_001648.2(KLK3):c.681G>A (p.Thr227=)	KLK3	Single nucleotide variant (3 prime UTR variant +1 more)	not provided	GBenign
Select item 2228738	NM_001648.2(KLK3):c.689G>A (p.Gly230Asp)	KLK3 (G187D +1 more)	Single nucleotide variant (3 prime UTR variant +1 more)	not specified	GUncertain significance
Select item 3039521	NM_001648.2(KLK3):c.699A>G (p.Pro233=)	KLK3	Single nucleotide variant (3 prime UTR variant +1 more)	KLK3-related disorder	GBenign
Select item 2224976	NM_001648.2(KLK3):c.772G>T (p.Val258Leu)	KLK3 (V215L +1 more)	Single nucleotide variant (3 prime UTR variant +1 more)	not specified	GUncertain significance
Select item 827593	NM_001648.2(KLK3):c.*4C>T	KLK3	Single nucleotide variant (3 prime UTR variant)	Hereditary angioedema with normal C1Inh	Gnot provided
Select item 1288242	NM_001648.2(KLK3):c.*15C>T	KLK3	Single nucleotide variant (3 prime UTR variant)	not provided	GBenign
Select item 3062398	GRCh37/hg19 19q13.33-13.41(chr19:48905537-51614930)x3	ACP4, ADM5 +118 more	Copy number gain	not specified	GLikely pathogenic
Select item 2684892	GRCh37/hg19 19q13.33-13.43(chr19:49625130-57647352)x3	ACP4, ADM5 +261 more	Copy number gain	not provided	GLikely pathogenic
Select item 1526670	GRCh37/hg19 19q13.33-13.41(chr19:49911081-53127438)	FPR3, ZNF577 +115 more	Copy number gain	not specified	GLikely pathogenic
Select item 980768	GRCh37/hg19 19q13.33-13.43(chr19:48463931-57095254)x3	PPP1R15A, PPP2R1A +308 more	Copy number gain	not provided	GPathogenic
Select item 972980	GRCh37/hg19 19q13.32-13.42(chr19:47939842-54626871)	GRIN2D, GRWD1 +228 more	Copy number gain	not provided	Gnot provided
Select item 816089	GRCh37/hg19 19q13.33-13.41(chr19:50469730-51916485)x3	ACP4, ASPDH +46 more	Copy number gain	not provided	GUncertain significance
Select item 816084	GRCh37/hg19 19q13.31-13.42(chr19:44738088-53621561)x3	C5AR1, C5AR2 +293 more	Copy number gain	not provided	GPathogenic
Select item 686542	GRCh37/hg19 19q13.33(chr19:49600909-51366070)x3	C19orf81, CD37 +66 more	Copy number gain	not provided	GUncertain significance
Select item 443499	GRCh37/hg19 19p13.3-q13.43(chr19:260912-58956888)	PGLYRP1, PGLYRP2 +1364 more	Copy number gain	See cases	GPathogenic
Select item 443498	GRCh37/hg19 19p13.3-q13.43(chr19:260912-58956888)x3	TMC4, TMED1 +1364 more	Copy number gain	See cases	GPathogenic
Select item 394342	GRCh37/hg19 19q13.33-13.43(chr19:50489390-59095359)x3	A1BG, ACP4 +280 more	Copy number gain	See cases	GPathogenic

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Items: 64