"Martin Pollak Laboratory, Beth Israel Deaconess Medical Center"[submi - ClinVar

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 64418	NM_001126108.2(SLC12A3):c.697A>G (p.Met233Val)	SLC12A3 (M233V +1 more)	Single nucleotide variant (missense variant)	Familial hypokalemia-hypomagnesemia	GUncertain significance
Select item 64419	NM_001126108.2(SLC12A3):c.861G>T (p.Val287=)	SLC12A3	Single nucleotide variant (synonymous variant)	not provided	GUncertain significance
Select item 64413	NM_001126108.2(SLC12A3):c.1189G>A (p.Val397Met)	SLC12A3 (V397M +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases +2 more	GConflicting classifications of pathogenicity
Select item 64414	NM_001126108.2(SLC12A3):c.1429G>A (p.Ala477Thr)	SLC12A3 (A477T +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 64415	NM_001126108.2(SLC12A3):c.1710G>A (p.Ala570=)	SLC12A3	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 64416	NM_001126108.2(SLC12A3):c.1956C>A (p.Pro652=)	SLC12A3	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 64417	NM_001126108.2(SLC12A3):c.2310C>T (p.Gly770=)	SLC12A3	Single nucleotide variant (synonymous variant)	Familial hypokalemia-hypomagnesemia +1 more	GConflicting classifications of pathogenicity

ClinVar