"Baylor Genetics"[submitter] AND "SLC12A1"[gene] - ClinVar

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 1026755	NM_000338.3(SLC12A1):c.760C>T (p.Pro254Ser)	SLC12A1 (P254S)	Single nucleotide variant (missense variant)	Bartter disease type 1 +1 more	GUncertain significance
Select item 1028202	NM_000338.3(SLC12A1):c.1300+5G>A	SLC12A1	Single nucleotide variant (intron variant)	Bartter disease type 1	GUncertain significance
Select item 1343249	NM_000338.3(SLC12A1):c.1316G>A (p.Arg439Gln)	SLC12A1 (R439Q)	Single nucleotide variant (missense variant)	not provided +1 more	GPathogenic/Likely pathogenic
Select item 1028203	NM_000338.3(SLC12A1):c.1834G>A (p.Gly612Arg)	LOC126862123, SLC12A1 (G612R)	Single nucleotide variant (missense variant)	Bartter disease type 1	GLikely pathogenic
Select item 2442097	NM_000338.3(SLC12A1):c.2066G>A (p.Gly689Glu)	SLC12A1 (G689E)	Single nucleotide variant (missense variant)	Bartter disease type 1	GUncertain significance
Select item 1034167	NM_000338.3(SLC12A1):c.2282G>A (p.Arg761Gln)	SLC12A1 (R761Q)	Single nucleotide variant (missense variant)	Bartter disease type 1	GUncertain significance
Select item 2582313	NM_000338.3(SLC12A1):c.2810A>G (p.Lys937Arg)	SLC12A1 (K937R)	Single nucleotide variant (missense variant)	Bartter disease type 1	GUncertain significance
Select item 805466	NM_000338.3(SLC12A1):c.2869dup (p.Ile957fs)	SLC12A1 (I957fs)	Duplication (frameshift variant)	Bartter disease type 1 +1 more	GPathogenic/Likely pathogenic

ClinVar