"Genome-Nilou Lab"[submitter] AND "LOC126862361"[gene] - ClinVar

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 586605	NM_001126108.2(SLC12A3):c.2938G>A (p.Gly980Arg)	LOC126862361, SLC12A3 (G989R +2 more)	Single nucleotide variant (missense variant)	not provided +2 more	GPathogenic/Likely pathogenic
Select item 448395	NM_001126108.2(SLC12A3):c.2954G>A (p.Cys985Tyr)	LOC126862361, SLC12A3 (C994Y +2 more)	Single nucleotide variant (missense variant)	Familial hypokalemia-hypomagnesemia +1 more	GConflicting classifications of pathogenicity
Select item 448396	NM_001126108.2(SLC12A3):c.2963C>T (p.Ser988Leu)	LOC126862361, SLC12A3 (S997L +2 more)	Single nucleotide variant (missense variant)	not provided +2 more	GUncertain significance
Select item 319921	NM_001126108.2(SLC12A3):c.2964G>A (p.Ser988=)	LOC126862361, SLC12A3	Single nucleotide variant (synonymous variant)	not provided +1 more	GBenign/Likely benign
Select item 781206	NM_001126108.2(SLC12A3):c.3024C>T (p.Ile1008=)	LOC126862361, SLC12A3	Single nucleotide variant (synonymous variant)	Familial hypokalemia-hypomagnesemia +1 more	GBenign/Likely benign
Select item 594235	NM_001126108.2(SLC12A3):c.3026G>A (p.Arg1009Gln)	LOC126862361, SLC12A3 (R1018Q +2 more)	Single nucleotide variant (missense variant)	not provided +1 more	GPathogenic
Select item 319924	NM_001126108.2(SLC12A3):c.*205A>G	LOC126862361, SLC12A3	Single nucleotide variant (3 prime UTR variant)	Familial hypokalemia-hypomagnesemia +1 more	GBenign

ClinVar