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

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Items: 27

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 59853	GRCh38/hg38 13q11-13.3(chr13:18676442-37656039)x3	LOC130009419, LOC130009420 +567 more	Copy number gain	See cases	GPathogenic
Select item 57639	GRCh38/hg38 13q12.3-13.2(chr13:31164047-34428736)x1	B3GLCT, BRCA2 +79 more	Copy number loss	See cases	GPathogenic
Select item 1235549	NC_000013.11:g.33016276G>A	KL	Single nucleotide variant (genic upstream transcript variant)	not provided	GBenign
Select item 311680	NM_004795.4(KL):c.273T>C (p.Asp91=)	KL	Single nucleotide variant (synonymous variant)	not specified +2 more	GBenign
Select item 1277579	NM_004795.4(KL):c.820-236C>T	KL	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1288084	NM_004795.4(KL):c.820-211G>A	KL	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1233548	NM_004795.4(KL):c.820-144A>G	KL	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1231191	NM_004795.4(KL):c.820-79C>T	KL	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1273850	NM_004795.4(KL):c.820-75T>G	KL	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1181821	NM_004795.4(KL):c.820-46C>G	KL	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 311690	NM_004795.4(KL):c.1054T>G (p.Phe352Val)	KL (F352V)	Single nucleotide variant (missense variant)	not provided +1 more	GBenign
Select item 311691	NM_004795.4(KL):c.1109G>C (p.Cys370Ser)	KL (C370S)	Single nucleotide variant (missense variant)	not provided +1 more	GBenign
Select item 311692	NM_004795.4(KL):c.1155G>A (p.Lys385=)	KL	Single nucleotide variant (synonymous variant)	Tumoral calcinosis, hyperphosphatemic, familial, 3 +1 more	GBenign
Select item 1279717	NM_004795.4(KL):c.1330+143T>G	KL	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1234670	NM_004795.4(KL):c.1331-195A>G	KL	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1269101	NM_004795.4(KL):c.1331-39G>A	KL	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 311695	NM_004795.4(KL):c.1540C>T (p.Pro514Ser)	KL (P514S)	Single nucleotide variant (missense variant)	not provided +1 more	GBenign
Select item 311696	NM_004795.4(KL):c.1593C>T (p.Tyr531=)	KL	Single nucleotide variant (synonymous variant)	not provided +1 more	GBenign/Likely benign
Select item 1178589	NM_004795.4(KL):c.1599+205C>T	KL	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 311698	NM_004795.4(KL):c.1767C>T (p.His589=)	KL	Single nucleotide variant (synonymous variant)	Tumoral calcinosis, hyperphosphatemic, familial, 3 +1 more	GBenign
Select item 311701	NM_004795.4(KL):c.2247T>C (p.Ala749=)	KL	Single nucleotide variant (synonymous variant)	Tumoral calcinosis, hyperphosphatemic, familial, 3 +1 more	GBenign
Select item 311705	NM_004795.4(KL):c.2619T>C (p.Asn873=)	KL	Single nucleotide variant (synonymous variant)	not provided +1 more	GBenign
Select item 1222763	NM_004795.4(KL):c.2701+22T>A	KL	Single nucleotide variant (intron variant)	Tumoral calcinosis, hyperphosphatemic, familial, 3 +1 more	GBenign
Select item 1238369	NM_004795.4(KL):c.2702-182C>T	KL	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1257250	NM_004795.4(KL):c.2702-110T>C	KL	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 802959	NM_004795.4(KL):c.2702-59dup	KL	Duplication (intron variant)	not provided +1 more	GBenign
Select item 253405	GRCh37/hg19 13q12.11-34(chr13:19571503-115092569)x3	GTF2F2, LINC00567 +332 more	Copy number gain	See cases	GPathogenic

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Items: 27