"Diagnostic Laboratory, Strasbourg University Hospital"[submitter] AND - ClinVar

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 50824	NM_001242896.3(DEPDC5):c.715C>T (p.Arg239Ter)	DEPDC5 (R239* +1 more)	Single nucleotide variant (nonsense +1 more)	not provided +2 more	GPathogenic
Select item 1701043	NM_001242896.3(DEPDC5):c.913A>T (p.Asn305Tyr)	DEPDC5 (N277Y +1 more)	Single nucleotide variant (missense variant +1 more)	Abnormal cerebral morphology	GUncertain significance
Select item 981254	NM_001242896.3(DEPDC5):c.3185del (p.His1062fs)	DEPDC5 (H1034fs +3 more)	Deletion (frameshift variant +1 more)	Intellectual disability	GUncertain significance
Select item 1701044	NM_001242896.3(DEPDC5):c.3264+1G>C	DEPDC5	Single nucleotide variant (splice donor variant)	Seizure	GLikely pathogenic
Select item 981255	NM_001242896.3(DEPDC5):c.3515C>T (p.Thr1172Ile)	DEPDC5 (T1072I +6 more)	Single nucleotide variant (missense variant +1 more)	Intellectual disability	GUncertain significance
Select item 264741	NM_001242896.3(DEPDC5):c.3802C>T (p.Arg1268Ter)	DEPDC5 (R1168* +6 more)	Single nucleotide variant (nonsense +1 more)	Familial focal epilepsy with variable foci +2 more	GPathogenic
Select item 1701045	NM_001242896.3(DEPDC5):c.3913C>T (p.His1305Tyr)	DEPDC5 (H1205Y +6 more)	Single nucleotide variant (missense variant +1 more)	Abnormal cerebral morphology	GUncertain significance

ClinVar