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

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 64380	NM_000085.5(CLCNKB):c.23G>A (p.Arg8His)	CLCNKB (R8H)	Single nucleotide variant (missense variant)	Bartter disease type 3 +1 more	GUncertain significance
Select item 64381	NM_000085.5(CLCNKB):c.71C>T (p.Pro24Leu)	CLCNKB (P24L)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 7593	NM_000085.5(CLCNKB):c.1312C>T (p.Arg438Cys)	LOC106501713, CLCNKB (R438C +1 more)	Single nucleotide variant (missense variant)	not provided +2 more	GPathogenic
Select item 64377	NM_000085.5(CLCNKB):c.1675G>A (p.Ala559Thr)	CLCNKB, LOC106501713 (A559T +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 64378	NM_000085.5(CLCNKB):c.1944T>G (p.Phe648Leu)	CLCNKB, LOC106501713 (F648L +1 more)	Single nucleotide variant (missense variant)	Bartter disease type 3 +1 more	GUncertain significance
Select item 64379	NM_000085.5(CLCNKB):c.2002G>C (p.Val668Leu)	CLCNKB, LOC106501713 (V668L +1 more)	Single nucleotide variant (missense variant)	Bartter disease type 3 +1 more	GUncertain significance

ClinVar