"3billion"[submitter] AND "SLC12A1"[gene] - ClinVar

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 1320258	NM_000338.3(SLC12A1):c.382C>T (p.Arg128Ter)	SLC12A1 (R128*)	Single nucleotide variant (nonsense)	Bartter disease type 1 +1 more	GPathogenic
Select item 2444090	NM_000338.3(SLC12A1):c.1307G>A (p.Cys436Tyr)	SLC12A1 (C436Y)	Single nucleotide variant (missense variant)	Bartter disease type 1	GUncertain significance
Select item 2444097	NM_000338.3(SLC12A1):c.1610G>C (p.Gly537Ala)	SLC12A1 (G537A)	Single nucleotide variant (missense variant)	Bartter disease type 1	GUncertain significance
Select item 1687553	NM_000338.3(SLC12A1):c.1652C>T (p.Thr551Ile)	SLC12A1 (T551I)	Single nucleotide variant (missense variant)	Bartter disease type 1	GUncertain significance
Select item 1320252	NM_000338.3(SLC12A1):c.1679T>C (p.Leu560Pro)	SLC12A1 (L560P)	Single nucleotide variant (missense variant)	Bartter disease type 1	GLikely pathogenic
Select item 2444378	NM_000338.3(SLC12A1):c.1757G>A (p.Cys586Tyr)	SLC12A1 (C586Y)	Single nucleotide variant (missense variant)	Bartter disease type 1	GUncertain significance
Select item 1333601	NM_000338.3(SLC12A1):c.1927del (p.Thr643fs)	LOC126862123, SLC12A1 (T643fs)	Deletion (frameshift variant)	Bartter disease type 1	GLikely pathogenic

ClinVar