C4693699[trait identifier] AND "New York Genome Center"[submitter] - ClinVar

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 934871	NM_006922.4(SCN3A):c.4640C>T (p.Thr1547Met)	SCN3A (T1547M +1 more)	Single nucleotide variant (missense variant)	not provided +2 more	GUncertain significance
Select item 652759	NM_006922.4(SCN3A):c.4186G>A (p.Val1396Met)	SCN3A (V1347M +1 more)	Single nucleotide variant (missense variant)	not provided +2 more	GUncertain significance
Select item 937082	NM_006922.4(SCN3A):c.2391+3A>G	SCN3A	Single nucleotide variant (intron variant)	not provided +2 more	GUncertain significance
Select item 1342364	NM_006922.4(SCN3A):c.1663C>A (p.Pro555Thr)	SCN3A (P555T)	Single nucleotide variant (missense variant)	Developmental and epileptic encephalopathy, 62 +1 more	GUncertain significance
Select item 859687	NM_006922.4(SCN3A):c.560G>A (p.Arg187His)	SCN3A (R187H)	Single nucleotide variant (missense variant)	Developmental and epileptic encephalopathy, 62 +2 more	GConflicting classifications of pathogenicity
Select item 1679624	NM_006922.4(SCN3A):c.-50-2312T>C	SCN3A	Single nucleotide variant (intron variant)	Developmental and epileptic encephalopathy, 62 +1 more	GUncertain significance

ClinVar