"Genome-Nilou Lab"[submitter] AND "CLCNKA"[gene] - ClinVar - NCBI

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Items: 9

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 585697	NM_004070.4(CLCNKA):c.247A>G (p.Arg83Gly)	CLCNKA, LOC106501712 (R83G)	Single nucleotide variant (missense variant +1 more)	Bartter disease type 4B +2 more	GBenign
Select item 1179578	NM_004070.4(CLCNKA):c.782-36G>C	LOC106501712, CLCNKA	Single nucleotide variant (intron variant)	not provided +1 more	GBenign
Select item 1177821	NM_004070.4(CLCNKA):c.1339G>A (p.Ala447Thr)	CLCNKA, LOC106501712 (A404T +1 more)	Single nucleotide variant (missense variant)	not specified +2 more	GBenign
Select item 1209770	NM_004070.4(CLCNKA):c.1408+13C>T	CLCNKA, LOC106501712	Single nucleotide variant (intron variant)	Bartter disease type 4B +1 more	GBenign
Select item 1209771	NM_004070.4(CLCNKA):c.1623-57T>C	CLCNKA, LOC106501712	Single nucleotide variant (intron variant)	Bartter disease type 4B +1 more	GBenign
Select item 1209772	NM_004070.4(CLCNKA):c.1757-13C>G	CLCNKA, LOC106501712	Single nucleotide variant (intron variant)	Bartter disease type 4B +1 more	GBenign
Select item 585696	NM_004070.4(CLCNKA):c.1846-6T>C	CLCNKA, LOC106501712	Single nucleotide variant (intron variant)	Bartter disease type 4B +1 more	GBenign
Select item 1209773	NM_004070.4(CLCNKA):c.1929+30C>A	CLCNKA, LOC106501712	Single nucleotide variant (intron variant)	Bartter disease type 4B +1 more	GBenign
Select item 1209774	NM_004070.4(CLCNKA):c.1929+31A>G	CLCNKA, LOC106501712	Single nucleotide variant (intron variant)	Bartter disease type 4B +1 more	GBenign