"Mendelics"[submitter] AND "DEPDC5"[gene] - ClinVar - NCBI

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Items: 7

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 1685296	NM_001242896.3(DEPDC5):c.436dup (p.Val146fs)	DEPDC5 (V118fs +1 more)	Duplication (frameshift variant +1 more)	Epilepsy, familial focal, with variable foci 1	GLikely pathogenic
Select item 803679	NM_001242896.3(DEPDC5):c.779A>G (p.Gln260Arg)	DEPDC5 (Q232R +1 more)	Single nucleotide variant (missense variant +1 more)	Epilepsy, familial focal, with variable foci 1	GUncertain significance
Select item 1685297	NM_001242896.3(DEPDC5):c.947-1G>A	DEPDC5	Single nucleotide variant (splice acceptor variant)	Epilepsy, familial focal, with variable foci 1 +1 more	GLikely pathogenic
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 condition +4 more	GBenign/Likely benign
Select item 803680	NM_001242896.3(DEPDC5):c.2516G>T (p.Gly839Val)	DEPDC5 (G811V +3 more)	Single nucleotide variant (missense variant +1 more)	Epilepsy, familial focal, with variable foci 1	GLikely pathogenic
Select item 210846	NM_001242896.3(DEPDC5):c.3311C>T (p.Ser1104Leu)	DEPDC5 (S1104L +3 more)	Single nucleotide variant (missense variant +2 more)	Familial focal epilepsy with variable foci +4 more	GConflicting classifications of pathogenicity
Select item 414465	NM_001242896.3(DEPDC5):c.3683T>C (p.Ile1228Thr)	DEPDC5 (I1128T +6 more)	Single nucleotide variant (missense variant +1 more)	not specified +4 more	GBenign/Likely benign