"MVZ Medizinische Genetik Mainz"[submitter] AND "SCN2A"[gene] - ClinVar - NCBI

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Items: 5

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3256902	NM_001040142.2(SCN2A):c.970+4A>T	SCN2A	Single nucleotide variant (intron variant)	Developmental and epileptic encephalopathy, 11	GUncertain significance
Select item 3236774	NM_001040142.2(SCN2A):c.1243T>C (p.Tyr415His)	SCN2A (Y415H)	Single nucleotide variant (missense variant)	Developmental and epileptic encephalopathy, 11	GLikely pathogenic
Select item 2692334	NM_001040142.2(SCN2A):c.3423_3424delinsCT (p.Glu1142Ter)	SCN2A (E1142*)	Indel (nonsense)	Developmental and epileptic encephalopathy, 11	GLikely pathogenic
Select item 3068356	NM_001040142.2(SCN2A):c.3626G>A (p.Trp1209Ter)	SCN2A (W1209*)	Single nucleotide variant (nonsense)	Developmental and epileptic encephalopathy, 11	GLikely pathogenic
Select item 3066121	NM_001040142.2(SCN2A):c.4295_4297del (p.Val1432del)	SCN2A (V1432del)	Deletion (inframe deletion)	Developmental and epileptic encephalopathy, 11	GLikely pathogenic

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