C4551983[trait identifier] AND "Génétique des Maladies du Développemen - ClinVar - NCBI

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Items: 11

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 916700	NM_001242896.3(DEPDC5):c.198dup (p.Ile67fs)	DEPDC5 (I67fs)	Duplication (frameshift variant +1 more)	Familial focal epilepsy with variable foci +1 more	GPathogenic
Select item 1174127	NM_001242896.3(DEPDC5):c.279+1G>C	DEPDC5	Single nucleotide variant (splice donor variant)	Epilepsy, familial focal, with variable foci 1	GPathogenic
Select item 534806	NM_001242896.3(DEPDC5):c.346C>T (p.Arg116Ter)	DEPDC5 (R116*)	Single nucleotide variant (nonsense +2 more)	Familial focal epilepsy with variable foci	GPathogenic
Select item 50825	NM_001242896.3(DEPDC5):c.982C>T (p.Arg328Ter)	DEPDC5 (R328* +1 more)	Single nucleotide variant (nonsense +1 more)	DEPDC5-related related disorder +3 more	GPathogenic
Select item 813812	NM_001242896.3(DEPDC5):c.1143+2T>C	DEPDC5	Single nucleotide variant (splice donor variant)	Epilepsy, familial focal, with variable foci 1	GPathogenic
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 264732	NM_001242896.3(DEPDC5):c.1555C>T (p.Gln519Ter)	DEPDC5 (Q519* +1 more)	Single nucleotide variant (nonsense +1 more)	Inborn genetic diseases +3 more	GPathogenic
Select item 1344489	NM_001242896.3(DEPDC5):c.2354+2T>A	DEPDC5	Single nucleotide variant (splice donor variant)	Epilepsy, familial focal, with variable foci 1	GLikely pathogenic
Select item 590901	NM_001242896.3(DEPDC5):c.2512C>T (p.Arg838Ter)	DEPDC5 (R760* +3 more)	Single nucleotide variant (nonsense +1 more)	not provided +3 more	GPathogenic
Select item 813770	NM_001242896.3(DEPDC5):c.3330+5G>C	DEPDC5	Single nucleotide variant (intron variant)	Epilepsy, familial focal, with variable foci 1	GUncertain significance
Select item 1301854	NM_001242896.3(DEPDC5):c.4673G>A (p.Trp1558Ter)	DEPDC5 (W1458* +6 more)	Single nucleotide variant (nonsense +1 more)	Epilepsy, familial focal, with variable foci 1	GPathogenic