"Rady Children's Institute for Genomic Medicine, Rady Children's Hospi - ClinVar - NCBI

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Items: 5

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 985353	NM_001040142.2(SCN2A):c.408G>A (p.Met136Ile)	SCN2A (M136I)	Single nucleotide variant (missense variant)	Inborn genetic diseases +4 more	GPathogenic/Likely pathogenic
Select item 2584477	NM_001371246.1(SCN2A):c.662T>A (p.Val221Asp)	SCN2A (V221D)	Single nucleotide variant (missense variant +1 more)	SCN2A-related disorder	GLikely pathogenic
Select item 650423	NM_001040142.2(SCN2A):c.4223T>C (p.Val1408Ala)	SCN2A (V1408A)	Single nucleotide variant (missense variant)	Developmental and epileptic encephalopathy, 11 +1 more	GLikely pathogenic
Select item 1308640	NM_001040142.2(SCN2A):c.4437G>C (p.Gln1479His)	SCN2A (Q1479H)	Single nucleotide variant (missense variant)	Developmental and epileptic encephalopathy, 11 +1 more	GLikely pathogenic
Select item 523396	NM_001040142.2(SCN2A):c.5485C>T (p.Leu1829Phe)	SCN2A (L1829F)	Single nucleotide variant (missense variant)	Developmental and epileptic encephalopathy, 11 +2 more	GConflicting classifications of pathogenicity

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