KLK15[gene] - ClinVar

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

Search results

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	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 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	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

ClinVar

Result Filters

Classification type

Germline classification

Types of conflicts

Molecular consequence

Variation type

Variation size

Variant length

Review status

Additional filters

Search results

Items: 36