"Centogene AG - the Rare Disease Company"[submitter] AND "SCN2A"[gene] - ClinVar

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 29888	NM_001040142.2(SCN2A):c.788C>T (p.Ala263Val)	SCN2A (A263V)	Single nucleotide variant (missense variant)	SCN2A-related disorder +5 more	GPathogenic
Select item 870189	NM_001040142.2(SCN2A):c.2501G>A (p.Ser834Asn)	SCN2A (S834N)	Single nucleotide variant (missense variant)	Developmental and epileptic encephalopathy, 11	GLikely pathogenic
Select item 194555	NM_001040142.2(SCN2A):c.2558G>A (p.Arg853Gln)	SCN2A (R853Q)	Single nucleotide variant (missense variant)	Seizures, benign familial infantile, 3 +2 more	GPathogenic/Likely pathogenic
Select item 1334020	NM_001040142.2(SCN2A):c.2950A>C (p.Ser984Arg)	SCN2A (S984R)	Single nucleotide variant (missense variant)	Developmental and epileptic encephalopathy, 11 +1 more	GUncertain significance
Select item 1333757	NM_001040142.2(SCN2A):c.3128A>C (p.Glu1043Ala)	SCN2A (E1043A)	Single nucleotide variant (missense variant)	Developmental and epileptic encephalopathy, 11	GUncertain significance
Select item 835364	NM_001040142.2(SCN2A):c.4918A>T (p.Ile1640Phe)	SCN2A (I1640F)	Single nucleotide variant (missense variant)	Seizures, benign familial infantile, 3 +1 more	GLikely pathogenic
Select item 662786	NM_001040142.2(SCN2A):c.5924A>G (p.Tyr1975Cys)	SCN2A (Y1975C)	Single nucleotide variant (missense variant)	Developmental and epileptic encephalopathy, 11 +1 more	GUncertain significance

ClinVar