C4748032[trait identifier] AND "3billion"[submitter] - ClinVar

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 570605	NM_152743.4(BRAT1):c.2360C>T (p.Thr787Met)	BRAT1 (T787M +2 more)	Single nucleotide variant (missense variant +1 more)	Neonatal-onset encephalopathy with rigidity and seizures +2 more	GConflicting classifications of pathogenicity
Select item 644633	NM_152743.4(BRAT1):c.1280G>A (p.Arg427Gln)	BRAT1 (R427Q +1 more)	Single nucleotide variant (missense variant +1 more)	Neonatal-onset encephalopathy with rigidity and seizures +2 more	GConflicting classifications of pathogenicity