C5574665[trait identifier] AND "Revvity Omics, Revvity"[submitter] - ClinVar

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 2435993	NM_001191061.2(SLC25A22):c.955C>T (p.Gln319Ter)	SLC25A22 (Q319*)	Single nucleotide variant (nonsense)	Developmental and epileptic encephalopathy, 3	GUncertain significance
Select item 2435994	NM_001191061.2(SLC25A22):c.674T>G (p.Phe225Cys)	SLC25A22 (F225C)	Single nucleotide variant (missense variant)	Developmental and epileptic encephalopathy, 3	GUncertain significance
Select item 546116	NM_001191061.2(SLC25A22):c.524G>A (p.Arg175His)	SLC25A22 (R175H)	Single nucleotide variant (missense variant)	Early infantile epileptic encephalopathy with suppression bursts +2 more	GUncertain significance
Select item 2690004	NM_001191061.2(SLC25A22):c.407G>A (p.Arg136His)	SLC25A22 (R132H +4 more)	Single nucleotide variant (missense variant)	Developmental and epileptic encephalopathy, 3	GUncertain significance
Select item 952810	NM_001191061.2(SLC25A22):c.279G>C (p.Gln93His)	SLC25A22 (Q93H)	Single nucleotide variant (missense variant)	Early infantile epileptic encephalopathy with suppression bursts +1 more	GUncertain significance
Select item 2435995	NM_001191061.2(SLC25A22):c.200G>T (p.Arg67Leu)	SLC25A22 (R67L)	Single nucleotide variant (missense variant)	Developmental and epileptic encephalopathy, 3	GUncertain significance

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