KLK10[gene] - ClinVar

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Items: 41

	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 2214503	NM_145888.3(KLK10):c.772G>C (p.Val258Leu)	KLK10 (V258L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2528845	NM_145888.3(KLK10):c.713C>T (p.Thr238Ile)	KLK10 (T238I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3115806	NM_145888.3(KLK10):c.692G>A (p.Gly231Asp)	KLK10 (G231D)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3115805	NM_145888.3(KLK10):c.691G>A (p.Gly231Ser)	KLK10 (G231S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2372124	NM_145888.3(KLK10):c.659G>A (p.Arg220Gln)	KLK10 (R220Q)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2554843	NM_145888.3(KLK10):c.637A>G (p.Met213Val)	KLK10 (M213V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2362185	NM_145888.3(KLK10):c.592C>T (p.Pro198Ser)	KLK10 (P198S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2407842	NM_145888.3(KLK10):c.539G>A (p.Arg180Gln)	KLK10 (R180Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2261675	NM_145888.3(KLK10):c.538C>T (p.Arg180Trp)	KLK10 (R180W)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2248644	NM_145888.3(KLK10):c.527C>T (p.Thr176Ile)	KLK10 (T176I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2300704	NM_145888.3(KLK10):c.517G>A (p.Gly173Ser)	KLK10 (G173S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3115804	NM_145888.3(KLK10):c.497G>A (p.Gly166Glu)	KLK10 (G166E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2395237	NM_145888.3(KLK10):c.496G>A (p.Gly166Arg)	KLK10 (G166R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2218766	NM_145888.3(KLK10):c.482G>A (p.Arg161His)	KLK10 (R161H)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 3289059	NM_145888.3(KLK10):c.481C>G (p.Arg161Gly)	KLK10 (R161G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3289058	NM_145888.3(KLK10):c.455G>T (p.Arg152Leu)	KLK10 (R152L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2334936	NM_145888.3(KLK10):c.442G>A (p.Val148Met)	KLK10 (V148M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2341932	NM_145888.3(KLK10):c.439G>C (p.Val147Leu)	KLK10 (V147L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3289060	NM_145888.3(KLK10):c.437C>T (p.Pro146Leu)	KLK10 (P146L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2600675	NM_145888.3(KLK10):c.400G>A (p.Asp134Asn)	KLK10 (D134N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2510297	NM_145888.3(KLK10):c.341G>A (p.Arg114His)	KLK10 (R114H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3289057	NM_145888.3(KLK10):c.340C>T (p.Arg114Cys)	KLK10 (R114C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3289056	NM_145888.3(KLK10):c.331C>T (p.Arg111Trp)	KLK10 (R111W)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2405845	NM_145888.3(KLK10):c.137A>G (p.Glu46Gly)	KLK10 (E46G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2229796	NM_145888.3(KLK10):c.65C>T (p.Pro22Leu)	KLK10 (P22L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3115803	NM_145888.3(KLK10):c.47C>A (p.Ala16Asp)	KLK10 (A16D)	Single nucleotide variant (missense variant)	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: 41