KLK2[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	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 3289077	NM_005551.5(KLK2):c.63C>G (p.Ile21Met)	KLK2 (I21M)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2460837	NM_005551.5(KLK2):c.71G>A (p.Arg24Gln)	KLK2 (R24Q)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2243657	NM_005551.5(KLK2):c.99G>T (p.Lys33Asn)	KLK2 (K33N)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 3115845	NM_005551.5(KLK2):c.101A>G (p.His34Arg)	KLK2 (H34R)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 3289076	NM_005551.5(KLK2):c.121G>A (p.Ala41Thr)	KLK2 (A41T)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2617489	NM_005551.5(KLK2):c.145C>A (p.His49Asn)	KLK2 (H49N)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2325744	NM_005551.5(KLK2):c.163G>C (p.Val55Leu)	KLK2 (V55L)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 3115846	NM_005551.5(KLK2):c.226G>A (p.Gly76Ser)	KLK2 (G76S)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2211324	NM_005551.5(KLK2):c.292C>T (p.His98Tyr)	KLK2 (H98Y)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 3115847	NM_005551.5(KLK2):c.311G>A (p.Ser104Asn)	KLK2 (S104N +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2568904	NM_005551.5(KLK2):c.324T>A (p.His108Gln)	KLK2 (H108Q +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3289075	NM_005551.5(KLK2):c.473G>A (p.Gly158Asp)	KLK2 (G158D +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2353243	NM_005551.5(KLK2):c.500G>A (p.Arg167His)	KLK2 (R167H +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2212057	NM_005551.5(KLK2):c.506G>A (p.Arg169Lys)	KLK2 (R169K +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GLikely benign
Select item 2616227	NM_005551.5(KLK2):c.538T>C (p.Ser180Pro)	KLK2 (S180P +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GLikely benign
Select item 2379342	NM_005551.5(KLK2):c.542A>G (p.Asn181Ser)	KLK2 (N79S +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3115848	NM_005551.5(KLK2):c.652G>A (p.Val218Ile)	KLK2 (V116I +1 more)	Single nucleotide variant (3 prime UTR variant +2 more)	not specified	GLikely benign
Select item 3115849	NM_005551.5(KLK2):c.718C>T (p.Pro240Ser)	KLK2 (P138S +1 more)	Single nucleotide variant (3 prime UTR variant +2 more)	not specified	GUncertain significance
Select item 3115850	NM_005551.5(KLK2):c.735G>C (p.Lys245Asn)	KLK2 (K245N +1 more)	Single nucleotide variant (3 prime UTR variant +2 more)	not specified	GUncertain significance
Select item 2573115	NM_005551.5(KLK2):c.748C>T (p.Arg250Trp)	KLK2 (R148W +1 more)	Single nucleotide variant (3 prime UTR variant +2 more)	Acute myeloid leukemia	GBenign
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 688813	GRCh37/hg19 19q13.33-13.41(chr19:51365810-51444199)x1	KLK2, KLK4	Copy number loss	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

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Items: 36