"Diagnostic Laboratory, Department of Genetics, University Medical Cen - ClinVar - NCBI

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Items: 11

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 447107	NM_000085.5(CLCNKB):c.80G>T (p.Arg27Leu)	CLCNKB (R27L)	Single nucleotide variant (missense variant)	not specified +3 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 447105	NM_000085.5(CLCNKB):c.492G>C (p.Gly164=)	CLCNKB, LOC106501713	Single nucleotide variant (synonymous variant)	not specified +3 more	GBenign
Select item 381050	NM_000085.5(CLCNKB):c.577-5C>T	CLCNKB, LOC106501713	Single nucleotide variant (intron variant)	not specified +3 more	GBenign
Select item 504916	NM_000085.5(CLCNKB):c.641C>G (p.Ala214Gly)	CLCNKB, LOC106501713 (A214G)	Single nucleotide variant (missense variant)	not provided +3 more	GBenign
Select item 504915	NM_000085.5(CLCNKB):c.642A>C (p.Ala214=)	CLCNKB, LOC106501713	Single nucleotide variant (synonymous variant)	not provided +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 377683	NM_000085.5(CLCNKB):c.876T>C (p.Cys292=)	CLCNKB, LOC106501713	Single nucleotide variant (synonymous variant)	not specified +3 more	GBenign
Select item 504914	NM_000085.5(CLCNKB):c.1053+13G>C	CLCNKB, LOC106501713	Single nucleotide variant (intron variant)	not specified +1 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 specified +3 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