KLK4[gene] - ClinVar

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Items: 60

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 59116	GRCh38/hg38 19q13.33-13.43(chr19:47908540-58539965)x3	ZBTB45, ZFP28 +1081 more	Copy number gain	See cases	GPathogenic
Select item 59117	GRCh38/hg38 19q13.33-13.43(chr19:47929575-58572206)x3	LOC130064933, LOC130064934 +1093 more	Copy number gain	See cases	GPathogenic
Select item 59126	GRCh38/hg38 19q13.33-13.43(chr19:49907832-58557889)x3	MIR10394, MIR125A +806 more	Copy number gain	See cases	GPathogenic
Select item 146579	GRCh38/hg38 19q13.33-13.43(chr19:50152520-58581203)x3	A1BG, A1BG-AS1 +782 more	Copy number gain	See cases	GPathogenic
Select item 57219	GRCh38/hg38 19q13.33-13.43(chr19:50191219-58535818)x3	LILRA4, LILRA5 +761 more	Copy number gain	See cases	GPathogenic
Select item 259563	NM_004917.5(KLK4):c.*19C>T	KLK4	Single nucleotide variant (3 prime UTR variant +1 more)	not specified +1 more	GBenign
Select item 2650365	NM_004917.5(KLK4):c.756G>A (p.Gln252=)	KLK4	Single nucleotide variant (synonymous variant +1 more)	KLK4-related disorder +1 more	GLikely benign
Select item 986162	NM_004917.5(KLK4):c.697G>A (p.Val233Met)	KLK4 (V138M +1 more)	Single nucleotide variant (missense variant +1 more)	KLK4-related disorder +1 more	GConflicting classifications of pathogenicity
Select item 978005	NM_004917.5(KLK4):c.680C>T (p.Pro227Leu)	KLK4 (P132L +1 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 3115857	NM_004917.5(KLK4):c.641A>G (p.Asn214Ser)	KLK4 (N119S +1 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 1327588	NM_004917.5(KLK4):c.637T>C (p.Cys213Arg)	KLK4 (C118R +1 more)	Single nucleotide variant (missense variant +1 more)	Amelogenesis imperfecta	GPathogenic
Select item 288110	NM_004917.5(KLK4):c.632del (p.Leu211fs)	KLK4 (L116fs +1 more)	Deletion (frameshift variant +1 more)	not provided	GPathogenic
Select item 1299354	NM_004917.5(KLK4):c.620_621del (p.Ser207fs)	KLK4 (S112fs +1 more)	Microsatellite (frameshift variant +1 more)	Amelogenesis imperfecta type 2A1	GLikely pathogenic
Select item 1288569	NM_004917.5(KLK4):c.613-56C>T	KLK4	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1261892	NM_004917.5(KLK4):c.613-129T>C	KLK4	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1236060	NM_004917.5(KLK4):c.612+286C>T	KLK4	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1279596	NM_004917.5(KLK4):c.612+227A>G	KLK4	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1245992	NM_004917.5(KLK4):c.612+50G>A	KLK4	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 259564	NM_004917.5(KLK4):c.591= (p.Gln197=)	KLK4	Single nucleotide variant (no sequence alteration +1 more)	not specified +1 more	GBenign
Select item 2278978	NM_004917.5(KLK4):c.581G>A (p.Gly194Asp)	KLK4 (G99D +1 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2265712	NM_004917.5(KLK4):c.545A>G (p.Tyr182Cys)	KLK4 (Y87C +1 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2254863	NM_004917.5(KLK4):c.506A>G (p.Asn169Ser)	KLK4 (N169S +1 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2397968	NM_004917.5(KLK4):c.485C>T (p.Pro162Leu)	KLK4 (P67L +1 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 714810	NM_004917.5(KLK4):c.476G>A (p.Gly159Asp)	KLK4 (G64D +1 more)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 2528817	NM_004917.5(KLK4):c.474C>G (p.Asn158Lys)	KLK4 (N158K +1 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 6079	NM_004917.5(KLK4):c.458G>A (p.Trp153Ter)	KLK4 (W153* +1 more)	Single nucleotide variant (nonsense +1 more)	Amelogenesis imperfecta type 2A1	GLikely pathogenic
Select item 2445594	NM_004917.5(KLK4):c.443G>T (p.Cys148Phe)	KLK4 (C148F +1 more)	Single nucleotide variant (missense variant +1 more)	Amelogenesis imperfecta type 2A1	GUncertain significance
Select item 2340892	NM_004917.5(KLK4):c.443G>A (p.Cys148Tyr)	KLK4 (C53Y +1 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2552730	NM_004917.5(KLK4):c.412G>T (p.Ala138Ser)	KLK4 (A43S +1 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 782657	NM_004917.5(KLK4):c.300C>T (p.Ser100=)	KLK4	Single nucleotide variant (synonymous variant +1 more)	not provided	GBenign
Select item 779471	NM_004917.5(KLK4):c.297C>A (p.Ala99=)	KLK4	Single nucleotide variant (synonymous variant +1 more)	not provided	GBenign
Select item 2379076	NM_004917.5(KLK4):c.253A>G (p.Ser85Gly)	KLK4 (S85G)	Single nucleotide variant (5 prime UTR variant +2 more)	Inborn genetic diseases	GUncertain significance
Select item 189294	NM_004917.5(KLK4):c.245del (p.Gly82fs)	KLK4 (G82fs)	Deletion (5 prime UTR variant +2 more)	Amelogenesis imperfecta type 2A1	GPathogenic
Select item 1253084	NM_004917.5(KLK4):c.224+193T>C	KLK4	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1280621	NM_004917.5(KLK4):c.224+182G>C	KLK4	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1174327	NM_004917.5(KLK4):c.224+142del	KLK4	Deletion (intron variant)	not provided	GBenign
Select item 1285682	NM_004917.5(KLK4):c.224+92C>G	KLK4	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 3065689	NM_004917.5(KLK4):c.224+2T>C	KLK4	Single nucleotide variant (5 prime UTR variant +2 more)	Amelogenesis imperfecta type 2A1	GLikely pathogenic
Select item 1327589	NM_004917.5(KLK4):c.170C>A (p.Ser57Ter)	KLK4 (S57*)	Single nucleotide variant (5 prime UTR variant +2 more)	Amelogenesis imperfecta	GPathogenic
Select item 2616057	NM_004917.5(KLK4):c.120C>G (p.His40Gln)	KLK4 (H40Q)	Single nucleotide variant (5 prime UTR variant +2 more)	Inborn genetic diseases	GUncertain significance
Select item 259565	NM_004917.5(KLK4):c.66G>T (p.Ser22=)	KLK4	Single nucleotide variant (5 prime UTR variant +1 more)	not provided +1 more	GBenign
Select item 2299424	NM_004917.5(KLK4):c.65C>G (p.Ser22Trp)	KLK4 (S22W)	Single nucleotide variant (5 prime UTR variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 1258657	NM_004917.5(KLK4):c.64T>G (p.Ser22Ala)	KLK4 (S22A)	Single nucleotide variant (5 prime UTR variant +1 more)	not provided	GBenign
Select item 1270996	NM_004917.5(KLK4):c.62-169C>A	KLK4	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1242612	NM_004917.5(KLK4):c.61+144C>T	KLK4	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1263437	NM_004917.5(KLK4):c.61+132C>G	KLK4	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1286882	NM_004917.5(KLK4):c.61+28T>A	KLK4	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 3034909	NM_004917.5(KLK4):c.39G>T (p.Gly13=)	KLK4	Single nucleotide variant (5 prime UTR variant +2 more)	KLK4-related disorder	GLikely benign
Select item 1268956	NC_000019.10:g.50910960GA[7]	KLK4	Microsatellite	not provided	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	FLT3LG, FPR1 +308 more	Copy number gain	not provided	GPathogenic
Select item 972980	GRCh37/hg19 19q13.32-13.42(chr19:47939842-54626871)	FUZ, GARIN5A +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	CLDND2, IGSF23 +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)	BICRA, BLOC1S3 +1364 more	Copy number gain	See cases	GPathogenic
Select item 443498	GRCh37/hg19 19p13.3-q13.43(chr19:260912-58956888)x3	A1BG, ABCA7 +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: 60