"Diagnostic Genetics, Severance Hospital, Yonsei University College of - ClinVar

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 1803059	NM_001040142.2(SCN2A):c.183_184insA (p.Leu62fs)	SCN2A (L62fs)	Insertion (frameshift variant)	Non-syndromic intellectual disability	GPathogenic
Select item 1803062	NM_001040142.2(SCN2A):c.819C>A (p.Asn273Lys)	SCN2A (N273K)	Single nucleotide variant (missense variant)	Developmental and epileptic encephalopathy, 11	GLikely pathogenic
Select item 1803058	NM_001040142.2(SCN2A):c.3676-7C>G	SCN2A	Single nucleotide variant (intron variant)	Neurodevelopmental delay	GLikely pathogenic
Select item 1803061	NM_001040142.2(SCN2A):c.4426T>A (p.Phe1476Ile)	SCN2A (F1476I)	Single nucleotide variant (missense variant)	Developmental and epileptic encephalopathy, 11	GLikely pathogenic
Select item 1803060	NM_001040142.2(SCN2A):c.4499C>T (p.Ala1500Val)	SCN2A (A1500V)	Single nucleotide variant (missense variant)	Developmental and epileptic encephalopathy, 11	GLikely pathogenic
Select item 1803063	NM_001040142.2(SCN2A):c.4622T>A (p.Ile1541Asn)	SCN2A (I1541N)	Single nucleotide variant (missense variant)	Developmental and epileptic encephalopathy, 11	GLikely pathogenic
Select item 1478168	NM_001040142.2(SCN2A):c.5636T>C (p.Met1879Thr)	SCN2A (M1879T)	Single nucleotide variant (missense variant)	Complex neurodevelopmental disorder	GLikely pathogenicFDA Recognized database

ClinVar