ClinVar for MedGen (Select 432274) - ClinVar

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 369810	NM_172107.4(KCNQ2):c.1776C>G (p.Ile592Met)	KCNQ2 (I592M +3 more)	Single nucleotide variant (missense variant)	Benign Rolandic epilepsy	Gnot provided
Select item 211236	NM_172107.4(KCNQ2):c.910TTC[1] (p.Phe305del)	KCNQ2 (F305del)	Microsatellite (inframe_deletion)	Developmental and epileptic encephalopathy, 7 +6 more	GPathogenic/Likely pathogenic