C4551983[trait identifier] AND "Center for Genomics, Ann and Robert H. - ClinVar

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 264730	NM_001242896.3(DEPDC5):c.1264C>T (p.Arg422Ter)	DEPDC5 (R422* +1 more)	Single nucleotide variant (nonsense +1 more)	Familial focal epilepsy with variable foci +2 more	GPathogenic
Select item 420430	NM_001242896.3(DEPDC5):c.1525C>T (p.Arg509Cys)	DEPDC5 (R509C +1 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases +4 more	GConflicting classifications of pathogenicity