"Diagnostic Laboratory, Department of Genetics, University Medical Cen - ClinVar

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 238673	NM_001242896.3(DEPDC5):c.2020C>T (p.Arg674Cys)	DEPDC5 (R674C +1 more)	Single nucleotide variant (missense variant +2 more)	DEPDC5-related disorder +4 more	GBenign/Likely benign
Select item 264763	NM_001242896.3(DEPDC5):c.3461C>T (p.Ser1154Phe)	DEPDC5 (S1054F +6 more)	Single nucleotide variant (missense variant +1 more)	not provided +3 more	GUncertain significance