C1843140[trait identifier] AND "Institute for Medical Genetics and Hum - ClinVar

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	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)	not provided +5 more	GPathogenic
Select item 2580917	NM_001040142.2(SCN2A):c.2977G>C (p.Ala993Pro)	SCN2A (A993P)	Single nucleotide variant (missense variant)	Seizures, benign familial infantile, 3	GUncertain significance