C4225257[trait identifier] AND "Revvity Omics, Revvity"[submitter] - ClinVar

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 856637	NM_020708.5(SLC12A5):c.266del (p.Lys89fs)	SLC12A5 (K89fs +1 more)	Deletion (frameshift variant)	Developmental and epileptic encephalopathy, 34	GPathogenic
Select item 2435969	NM_020708.5(SLC12A5):c.855-66G>A	SLC12A5	Single nucleotide variant (intron variant)	Developmental and epileptic encephalopathy, 34	GUncertain significance
Select item 2435971	NM_020708.5(SLC12A5):c.1846T>C (p.Tyr616His)	SLC12A5 (Y616H +1 more)	Single nucleotide variant (missense variant)	Developmental and epileptic encephalopathy, 34	GUncertain significance
Select item 475651	NM_020708.5(SLC12A5):c.2452C>G (p.Pro818Ala)	SLC12A5 (P818A +1 more)	Single nucleotide variant (missense variant)	not provided +3 more	GConflicting classifications of pathogenicity
Select item 2433374	NM_020708.5(SLC12A5):c.2812C>T (p.Arg938Ter)	SLC12A5 (R938* +1 more)	Single nucleotide variant (nonsense)	Developmental and epileptic encephalopathy, 34	GLikely pathogenic
Select item 2435970	NM_020708.5(SLC12A5):c.2888G>A (p.Ser963Asn)	SLC12A5 (S963N +1 more)	Single nucleotide variant (missense variant)	Developmental and epileptic encephalopathy, 34	GUncertain significance
Select item 934752	NM_020708.5(SLC12A5):c.3131A>T (p.Gln1044Leu)	SLC12A5 (Q1067L +1 more)	Single nucleotide variant (missense variant)	Developmental and epileptic encephalopathy, 34	GUncertain significance

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