"Martin Pollak Laboratory, Beth Israel Deaconess Medical Center"[submi - ClinVar

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 64462	NM_004070.4(CLCNKA):c.74G>A (p.Cys25Tyr)	CLCNKA (C25Y)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 64463	NM_004070.4(CLCNKA):c.753G>C (p.Arg251=)	CLCNKA, LOC106501712	Single nucleotide variant (synonymous variant)	not provided	GUncertain significance
Select item 64464	NM_004070.4(CLCNKA):c.754C>T (p.Leu252Phe)	CLCNKA, LOC106501712 (L252F +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 64459	NM_004070.4(CLCNKA):c.1147G>T (p.Asp383Tyr)	CLCNKA, LOC106501712 (D383Y +1 more)	Single nucleotide variant (missense variant)	Bartter disease type 4B	GUncertain significance
Select item 64460	NM_004070.4(CLCNKA):c.1327G>A (p.Ala443Thr)	CLCNKA, LOC106501712 (A443T +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 64461	NM_004070.4(CLCNKA):c.1977A>G (p.Thr659=)	LOC106501712, CLCNKA	Single nucleotide variant (synonymous variant)	not provided	GUncertain significance

ClinVar