"Laboratorio de Genetica e Diagnostico Molecular, Hospital Israelita A - ClinVar

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 534795	NM_001242896.3(DEPDC5):c.2486C>T (p.Pro829Leu)	DEPDC5 (P751L +3 more)	Single nucleotide variant (missense variant +1 more)	See cases +2 more	GUncertain significance
Select item 264742	NM_001242896.3(DEPDC5):c.3994C>T (p.Arg1332Ter)	DEPDC5 (R1232* +6 more)	Single nucleotide variant (nonsense +1 more)	Familial focal epilepsy with variable foci +3 more	GPathogenic