KLK6[gene] - ClinVar

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Items: 25

	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 2481385	NM_002774.4(KLK6):c.714A>T (p.Gln238His)	KLK6 (Q238H +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2210857	NM_002774.4(KLK6):c.649C>T (p.Pro217Ser)	KLK6 (P110S +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2273755	NM_002774.4(KLK6):c.641G>A (p.Gly214Asp)	KLK6 (G107D +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2486235	NM_002774.4(KLK6):c.590C>T (p.Ser197Phe)	KLK6 (S90F +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2461742	NM_002774.4(KLK6):c.380T>C (p.Leu127Pro)	KLK6 (L127P +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2374313	NM_002774.4(KLK6):c.346G>A (p.Ala116Thr)	KLK6 (A9T +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2460008	NM_002774.4(KLK6):c.271C>T (p.Arg91Trp)	KLK6 (R91W)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2381322	NM_002774.4(KLK6):c.248C>T (p.Ser83Phe)	KLK6 (P31S +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GLikely benign
Select item 781517	NM_002774.4(KLK6):c.232C>T (p.Arg78Trp)	KLK6 (R78W)	Single nucleotide variant (missense variant +1 more)	not provided	GBenign
Select item 3115871	NM_002774.4(KLK6):c.52G>A (p.Glu18Lys)	KLK6 (E18K)	Single nucleotide variant (missense variant +2 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 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: 25