"Neuberg Centre For Genomic Medicine, NCGM"[submitter] AND "SLC12A1"[g - ClinVar

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 1932749	NM_000338.3(SLC12A1):c.975+1G>A	SLC12A1	Single nucleotide variant (splice donor variant)	not provided +2 more	GLikely pathogenic
Select item 2585413	NM_000338.3(SLC12A1):c.2669A>G (p.Glu890Gly)	SLC12A1 (E890G)	Single nucleotide variant (missense variant)	Bartter disease type 3	GUncertain significance