ClinVar (all) for Orgtrack (Select 506909) - ClinVar

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3242429	NM_001165963.4(SCN1A):c.2869T>C (p.Trp957Arg)	SCN1A (W143R +5 more)	Single nucleotide variant (missense variant +1 more)	Severe myoclonic epilepsy in infancy	GPathogenic
Select item 3242428	NM_001165963.4(SCN1A):c.560G>C (p.Arg187Pro)	SCN1A (R187P)	Single nucleotide variant (missense variant +2 more)	Severe myoclonic epilepsy in infancy	GPathogenic
Select item 1742779	NM_001165963.4(SCN1A):c.474-2A>G	SCN1A	Single nucleotide variant (splice acceptor variant)	Inborn genetic diseases	GPathogenic

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