"GeneDx"[submitter] AND "KLK4"[gene] - ClinVar

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Items: 22

	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 259563	NM_004917.5(KLK4):c.*19C>T	KLK4	Single nucleotide variant (3 prime UTR variant +1 more)	not provided +1 more	GBenign
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 6079	NM_004917.5(KLK4):c.458G>A (p.Trp153Ter)	KLK4 (W153* +1 more)	Single nucleotide variant (nonsense +1 more)	not provided +1 more	GLikely pathogenic
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 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 259565	NM_004917.5(KLK4):c.66G>T (p.Ser22=)	KLK4	Single nucleotide variant (5 prime UTR variant +1 more)	not specified +1 more	GBenign
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 1268956	NC_000019.10:g.50910960GA[7]	KLK4	Microsatellite	not provided	GBenign

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Items: 22