KLK8[gene] - ClinVar

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Items: 34

	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 3115884	NM_007196.4(KLK8):c.761A>C (p.Lys254Thr)	KLK8 (K299T +3 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2529023	NM_007196.4(KLK8):c.730A>G (p.Asn244Asp)	KLK8 (N244D +3 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 3115883	NM_007196.4(KLK8):c.709G>T (p.Asp237Tyr)	KLK8 (D116Y +3 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2313461	NM_007196.4(KLK8):c.623G>A (p.Cys208Tyr)	KLK8 (C208Y +3 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2257202	NM_007196.4(KLK8):c.604A>G (p.Ser202Gly)	KLK8 (S61G +3 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 3115880	NM_007196.4(KLK8):c.553G>A (p.Glu185Lys)	KLK8 (E185K +3 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 3115879	NM_007196.4(KLK8):c.451A>C (p.Lys151Gln)	KLK8 (K151Q +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3289089	NM_007196.4(KLK8):c.419G>A (p.Ser140Asn)	KLK8 (S140N +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GLikely benign
Select item 2552815	NM_007196.4(KLK8):c.331A>G (p.Ser111Gly)	KLK8 (S111G +1 more)	Single nucleotide variant (5 prime UTR variant +2 more)	not specified	GUncertain significance
Select item 2324474	NM_007196.4(KLK8):c.143C>T (p.Ala48Val)	KLK8 (A93V +1 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 3289087	NM_007196.4(KLK8):c.121C>T (p.Pro41Ser)	KLK8 (P86S +1 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2366487	NM_007196.4(KLK8):c.71-18C>G	KLK8 (P63R)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2295683	NM_007196.4(KLK8):c.71-87C>T	KLK8 (P40L)	Single nucleotide variant (missense variant +1 more)	not specified	GLikely benign
Select item 3115882	NM_007196.4(KLK8):c.71-132G>T	KLK8 (C25F)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3289088	NM_007196.4(KLK8):c.55G>C (p.Gly19Arg)	KLK8 (G19R)	Single nucleotide variant (5 prime UTR variant +2 more)	not specified	GUncertain significance
Select item 2352034	NM_007196.4(KLK8):c.38T>C (p.Met13Thr)	KLK8 (M13T)	Single nucleotide variant (5 prime UTR variant +2 more)	not specified	GUncertain significance
Select item 3289085	NM_007196.4(KLK8):c.14G>A (p.Arg5Gln)	KLK8 (R5Q)	Single nucleotide variant (5 prime UTR variant +2 more)	not specified	GUncertain significance
Select item 3115878	NM_007196.4(KLK8):c.11C>A (p.Pro4His)	KLK8 (P4H)	Single nucleotide variant (5 prime UTR variant +2 more)	not specified	GUncertain significance
Select item 2607230	NM_007196.4(KLK8):c.10C>A (p.Pro4Thr)	KLK8 (P4T)	Single nucleotide variant (5 prime UTR 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: 34