C3281191[trait identifier] AND "New York Genome Center"[submitter] - ClinVar

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 1679749	NM_001330260.2(SCN8A):c.1264C>A (p.Leu422Met)	SCN8A (L422M)	Single nucleotide variant (missense variant)	Seizures, benign familial infantile, 5 +3 more	GUncertain significance
Select item 1342316	NM_001330260.2(SCN8A):c.2901+2T>C	SCN8A	Single nucleotide variant (splice donor variant)	Seizures, benign familial infantile, 5 +1 more	GPathogenic
Select item 576451	NM_001330260.2(SCN8A):c.2983A>G (p.Asn995Asp)	SCN8A (N995D)	Single nucleotide variant (missense variant)	Developmental and epileptic encephalopathy, 13 +1 more	GConflicting classifications of pathogenicity
Select item 1696571	NM_001330260.2(SCN8A):c.3245A>T (p.Asp1082Val)	SCN8A (D1082V)	Single nucleotide variant (missense variant)	Seizures, benign familial infantile, 5 +2 more	GUncertain significance
Select item 530412	NM_001330260.2(SCN8A):c.3367A>C (p.Lys1123Gln)	SCN8A (K1123Q)	Single nucleotide variant (missense variant)	Seizures, benign familial infantile, 5 +3 more	GUncertain significance
Select item 1341785	NM_001330260.2(SCN8A):c.3820-1G>T	SCN8A	Single nucleotide variant (splice acceptor variant +1 more)	Cognitive impairment with or without cerebellar ataxia +1 more	GUncertain significance
Select item 1342357	NC_000015.10:g.51681311_51791472dup	LOC121530581, LOC130057054 +13 more	Duplication	Developmental and epileptic encephalopathy, 13	GUncertain significance

ClinVar