C4225245[trait identifier] AND "Fulgent Genetics, Fulgent Genetics"[su - ClinVar

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 542315	NM_020708.5(SLC12A5):c.1306A>G (p.Ile436Val)	SLC12A5 (I436V +1 more)	Single nucleotide variant (missense variant)	not provided +3 more	GUncertain significance
Select item 574875	NM_020708.5(SLC12A5):c.2143T>C (p.Phe715Leu)	SLC12A5 (F715L +1 more)	Single nucleotide variant (missense variant)	not specified +2 more	GUncertain significance
Select item 542320	NM_020708.5(SLC12A5):c.2439G>A (p.Met813Ile)	SLC12A5 (M813I +1 more)	Single nucleotide variant (missense variant)	not specified +3 more	GConflicting classifications of pathogenicity
Select item 475651	NM_020708.5(SLC12A5):c.2452C>G (p.Pro818Ala)	SLC12A5 (P818A +1 more)	Single nucleotide variant (missense variant)	not specified +2 more	GConflicting classifications of pathogenicity
Select item 1417743	NM_020708.5(SLC12A5):c.2735G>A (p.Arg912His)	SLC12A5 (R912H +1 more)	Single nucleotide variant (missense variant)	Developmental and epileptic encephalopathy, 34 +2 more	GUncertain significance
Select item 475655	NM_020708.5(SLC12A5):c.3260-3C>A	LOC113960611, SLC12A5	Single nucleotide variant (intron variant)	SLC12A5-related disorder +4 more	GConflicting classifications of pathogenicity

ClinVar