C4479313[trait identifier] AND "3billion"[submitter] - ClinVar

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 843574	NM_203446.3(SYNJ1):c.3520C>T (p.Arg1174Cys)	SYNJ1 (R1158C +3 more)	Single nucleotide variant (missense variant)	Developmental and epileptic encephalopathy, 53 +1 more	GConflicting classifications of pathogenicity
Select item 1034741	NM_203446.3(SYNJ1):c.3007G>A (p.Ala1003Thr)	SYNJ1 (A998T +2 more)	Single nucleotide variant (missense variant)	Developmental and epileptic encephalopathy, 53 +1 more	GConflicting classifications of pathogenicity