"Genome-Nilou Lab"[submitter] AND "LOC106501713"[gene] - ClinVar

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Items: 23

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 1209775	NM_000085.5(CLCNKB):c.101-50G>C	CLCNKB, LOC106501713	Single nucleotide variant (intron variant)	Bartter disease type 3 +2 more	GBenign
Select item 1209776	NM_000085.5(CLCNKB):c.230-59G>A	CLCNKB, LOC106501713	Single nucleotide variant (intron variant)	Bartter disease type 3 +2 more	GBenign
Select item 447104	NM_000085.5(CLCNKB):c.324A>G (p.Ser108=)	CLCNKB, LOC106501713	Single nucleotide variant (synonymous variant)	not specified +3 more	GBenign
Select item 1209691	NM_000085.5(CLCNKB):c.359-70A>G	CLCNKB, LOC106501713	Single nucleotide variant (intron variant)	Bartter disease type 4B +2 more	GBenign
Select item 447105	NM_000085.5(CLCNKB):c.492G>C (p.Gly164=)	CLCNKB, LOC106501713	Single nucleotide variant (synonymous variant)	not provided +3 more	GBenign
Select item 1183733	NM_000085.5(CLCNKB):c.498+83C>G	CLCNKB, LOC106501713	Single nucleotide variant (intron variant)	not provided +2 more	GBenign
Select item 381050	NM_000085.5(CLCNKB):c.577-5C>T	CLCNKB, LOC106501713	Single nucleotide variant (intron variant)	not provided +3 more	GBenign
Select item 504916	NM_000085.5(CLCNKB):c.641C>G (p.Ala214Gly)	CLCNKB, LOC106501713 (A214G)	Single nucleotide variant (missense variant)	Bartter disease type 3 +3 more	GBenign
Select item 504915	NM_000085.5(CLCNKB):c.642A>C (p.Ala214=)	CLCNKB, LOC106501713	Single nucleotide variant (synonymous variant)	not specified +3 more	GBenign
Select item 447108	NM_000085.5(CLCNKB):c.860C>T (p.Ala287Val)	CLCNKB, LOC106501713 (A287V +1 more)	Single nucleotide variant (missense variant)	not specified +3 more	GBenign
Select item 1209692	NM_000085.5(CLCNKB):c.866+35A>T	CLCNKB, LOC106501713	Single nucleotide variant (intron variant)	Bartter disease type 4B +2 more	GBenign
Select item 1209750	NM_000085.5(CLCNKB):c.866+47del	CLCNKB, LOC106501713	Deletion (intron variant)	not provided +2 more	GBenign
Select item 1209751	NM_000085.5(CLCNKB):c.867-32G>A	CLCNKB, LOC106501713	Single nucleotide variant (intron variant)	Bartter disease type 4B +2 more	GBenign
Select item 377683	NM_000085.5(CLCNKB):c.876T>C (p.Cys292=)	CLCNKB, LOC106501713	Single nucleotide variant (synonymous variant)	Bartter disease type 4B +3 more	GBenign
Select item 1209752	NM_000085.5(CLCNKB):c.968+47T>C	CLCNKB, LOC106501713	Single nucleotide variant (intron variant)	Bartter disease type 3 +2 more	GBenign
Select item 447094	NM_000085.5(CLCNKB):c.1685T>C (p.Met562Thr)	CLCNKB, LOC106501713 (M562T +1 more)	Single nucleotide variant (missense variant)	not provided +3 more	GBenign
Select item 447096	NM_000085.5(CLCNKB):c.1732A>G (p.Lys578Glu)	CLCNKB, LOC106501713 (K578E +1 more)	Single nucleotide variant (missense variant)	Bartter disease type 3 +3 more	GBenign
Select item 447097	NM_000085.5(CLCNKB):c.1741C>T (p.Leu581=)	CLCNKB, LOC106501713	Single nucleotide variant (synonymous variant)	not specified +3 more	GBenign
Select item 1209753	NM_000085.5(CLCNKB):c.1930-40A>G	CLCNKB, LOC106501713	Single nucleotide variant (intron variant)	Bartter disease type 4B +2 more	GBenign
Select item 1209826	NM_000085.5(CLCNKB):c.1930-37T>A	CLCNKB, LOC106501713	Single nucleotide variant (intron variant)	Bartter disease type 3 +2 more	GBenign
Select item 1209827	NM_000085.5(CLCNKB):c.2017-28G>C	LOC106501713, CLCNKB	Single nucleotide variant (intron variant)	Bartter disease type 3 +2 more	GBenign
Select item 1175001	NM_000085.5(CLCNKB):c.2017-16C>T	CLCNKB, LOC106501713	Single nucleotide variant (intron variant)	Bartter disease type 4B +2 more	GBenign
Select item 1209828	NM_000085.5(CLCNKB):c.*37A>C	CLCNKB, LOC106501713	Single nucleotide variant (3 prime UTR variant)	Bartter disease type 3 +2 more	GBenign

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Items: 23