C0268450[trait identifier] AND "Neuberg Centre For Genomic Medicine, N - ClinVar

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 448391	NM_001126108.2(SLC12A3):c.1195C>T (p.Arg399Cys)	SLC12A3 (R399C +1 more)	Single nucleotide variant (missense variant)	Familial hypokalemia-hypomagnesemia +1 more	GPathogenic
Select item 2585272	NM_001126108.2(SLC12A3):c.1394C>A (p.Thr465Asn)	SLC12A3 (T464N +1 more)	Single nucleotide variant (missense variant)	Familial hypokalemia-hypomagnesemia	GUncertain significance
Select item 2627492	NM_001126108.2(SLC12A3):c.1443+1G>A	SLC12A3	Single nucleotide variant (splice donor variant)	Familial hypokalemia-hypomagnesemia	GLikely pathogenic
Select item 397523	NM_001126108.2(SLC12A3):c.1924C>G (p.Arg642Gly)	SLC12A3 (R642G +1 more)	Single nucleotide variant (missense variant)	Familial hypokalemia-hypomagnesemia +1 more	GPathogenic/Likely pathogenic
Select item 994770	NM_001126108.2(SLC12A3):c.2186G>T (p.Gly729Val)	SLC12A3 (G728V +1 more)	Single nucleotide variant (missense variant)	not provided +1 more	GPathogenic/Likely pathogenic
Select item 1338995	NM_001126108.2(SLC12A3):c.2659C>T (p.Arg887Ter)	SLC12A3 (R887* +2 more)	Single nucleotide variant (nonsense)	Familial hypokalemia-hypomagnesemia	GPathogenic/Likely pathogenic

ClinVar