KLK15[gene] - ClinVar

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Items: 36

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 59116	GRCh38/hg38 19q13.33-13.43(chr19:47908540-58539965)x3	ZBTB45, ZFP28 +1081 more	Copy number gain	See cases	GPathogenic
Select item 59117	GRCh38/hg38 19q13.33-13.43(chr19:47929575-58572206)x3	LOC130064933, LOC130064934 +1093 more	Copy number gain	See cases	GPathogenic
Select item 59126	GRCh38/hg38 19q13.33-13.43(chr19:49907832-58557889)x3	MIR10394, MIR125A +806 more	Copy number gain	See cases	GPathogenic
Select item 146579	GRCh38/hg38 19q13.33-13.43(chr19:50152520-58581203)x3	A1BG, A1BG-AS1 +782 more	Copy number gain	See cases	GPathogenic
Select item 57219	GRCh38/hg38 19q13.33-13.43(chr19:50191219-58535818)x3	LILRA4, LILRA5 +761 more	Copy number gain	See cases	GPathogenic
Select item 2595487	NM_017509.4(KLK15):c.759G>A (p.Met253Ile)	KLK15 (M252I +1 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2537100	NM_017509.4(KLK15):c.748A>G (p.Arg250Gly)	KLK15 (R250G +1 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2301768	NM_017509.4(KLK15):c.716A>G (p.Tyr239Cys)	KLK15 (Y238C +1 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2650364	NM_017509.4(KLK15):c.706C>G (p.Pro236Ala)	KLK15 (P235A +1 more)	Single nucleotide variant (missense variant +2 more)	not provided	GLikely benign
Select item 2384332	NM_017509.4(KLK15):c.682G>A (p.Val228Ile)	KLK15 (V227I +1 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 3115843	NM_017509.4(KLK15):c.665T>C (p.Ile222Thr)	KLK15 (I222T +1 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2555160	NM_017509.4(KLK15):c.574A>G (p.Met192Val)	KLK15 (M191V +1 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 3115842	NM_017509.4(KLK15):c.559C>T (p.Arg187Cys)	KLK15 (R186C +1 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 3115841	NM_017509.4(KLK15):c.469C>T (p.Pro157Ser)	KLK15 (P156S +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2243217	NM_017509.4(KLK15):c.359C>G (p.Pro120Arg)	KLK15 (P119R +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2595639	NM_017509.4(KLK15):c.355A>C (p.Asn119His)	KLK15 (N118H +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3115839	NM_017509.4(KLK15):c.242A>G (p.Asp81Gly)	KLK15 (D81G +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2558205	NM_017509.4(KLK15):c.238C>A (p.Arg80Ser)	KLK15 (R79S +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3289073	NM_017509.4(KLK15):c.209T>C (p.Val70Ala)	KLK15 (V69A +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3289072	NM_017509.4(KLK15):c.207A>T (p.Arg69Ser)	KLK15 (R68S +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3289074	NM_017509.4(KLK15):c.204G>C (p.Met68Ile)	KLK15 (M67I +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3115838	NM_017509.4(KLK15):c.188G>A (p.Cys63Tyr)	KLK15 (C62Y +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2251268	NM_017509.4(KLK15):c.131G>A (p.Arg44His)	KLK15 (R43H +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3115844	NM_017509.4(KLK15):c.98A>G (p.Gln33Arg)	KLK15 (Q32R +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2395259	NM_017509.4(KLK15):c.55G>A (p.Gly19Ser)	KLK15 (G19S +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
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	FLT3LG, FPR1 +308 more	Copy number gain	not provided	GPathogenic
Select item 972980	GRCh37/hg19 19q13.32-13.42(chr19:47939842-54626871)	FUZ, GARIN5A +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	CLDND2, IGSF23 +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)	BICRA, BLOC1S3 +1364 more	Copy number gain	See cases	GPathogenic
Select item 443498	GRCh37/hg19 19p13.3-q13.43(chr19:260912-58956888)x3	A1BG, ABCA7 +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: 36