"Revvity Omics, Revvity"[submitter] AND "KCNJ1"[gene] - ClinVar

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 872043	NM_153766.3(KCNJ1):c.601C>T (p.Leu201Phe)	KCNJ1 (L218F +2 more)	Single nucleotide variant (missense variant)	Bartter disease type 2 +2 more	GConflicting classifications of pathogenicity
Select item 879618	NM_153766.3(KCNJ1):c.521C>T (p.Thr174Met)	KCNJ1 (T193M +2 more)	Single nucleotide variant (missense variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 1011893	NM_153766.3(KCNJ1):c.505C>A (p.Arg169Ser)	KCNJ1 (R169S +2 more)	Single nucleotide variant (missense variant)	Bartter disease type 2 +1 more	GUncertain significance
Select item 2689288	NM_153766.3(KCNJ1):c.215G>C (p.Ser72Thr)	KCNJ1 (S72T +2 more)	Single nucleotide variant (missense variant)	Bartter disease type 2	GUncertain significance
Select item 2432998	NM_153766.3(KCNJ1):c.80A>G (p.Asp27Gly)	KCNJ1 (D27G +2 more)	Single nucleotide variant (missense variant)	Bartter disease type 2	GUncertain significance
Select item 2432999	NM_153766.3(KCNJ1):c.-9A>G	KCNJ1 (T15A +1 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases +1 more	GUncertain significance

ClinVar