"Neuberg Centre For Genomic Medicine, NCGM"[submitter] AND "DEPDC5"[ge - ClinVar - NCBI

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Items: 14

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 2671635	NM_001242896.3(DEPDC5):c.88_89insA (p.Phe30fs)	DEPDC5 (F30fs)	Insertion (frameshift variant +1 more)	Epilepsy, familial focal, with variable foci 1	GLikely pathogenic
Select item 2413365	NM_001242896.3(DEPDC5):c.113T>C (p.Ile38Thr)	DEPDC5 (I38T)	Single nucleotide variant (missense variant +1 more)	Familial focal epilepsy with variable foci +1 more	GUncertain significance
Select item 2671787	NM_001242896.3(DEPDC5):c.704C>G (p.Pro235Arg)	DEPDC5 (P207R +1 more)	Single nucleotide variant (missense variant +1 more)	Epilepsy, familial focal, with variable foci 1	GUncertain significance
Select item 1007024	NM_001242896.3(DEPDC5):c.829C>T (p.Leu277Phe)	DEPDC5 (L249F +1 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases +3 more	GUncertain significance
Select item 50825	NM_001242896.3(DEPDC5):c.982C>T (p.Arg328Ter)	DEPDC5 (R328* +1 more)	Single nucleotide variant (nonsense +1 more)	Familial focal epilepsy with variable foci +3 more	GPathogenic
Select item 466451	NM_001242896.3(DEPDC5):c.1385A>G (p.Tyr462Cys)	DEPDC5 (Y462C +1 more)	Single nucleotide variant (missense variant +1 more)	Epilepsy, familial focal, with variable foci 1 +2 more	GUncertain significance
Select item 2585002	NM_001242896.3(DEPDC5):c.1891del (p.Gln631fs)	DEPDC5 (Q631fs +1 more)	Deletion (frameshift variant +2 more)	Epilepsy, familial focal, with variable foci 1	GUncertain significance
Select item 2585328	NM_001242896.3(DEPDC5):c.2105G>A (p.Gly702Asp)	DEPDC5 (G624D +2 more)	Single nucleotide variant (missense variant +1 more)	Epilepsy, familial focal, with variable foci 1	GUncertain significance
Select item 180644	NM_001242896.3(DEPDC5):c.2527C>T (p.Arg843Ter)	DEPDC5 (R843* +3 more)	Single nucleotide variant (nonsense +1 more)	Familial focal epilepsy with variable foci +3 more	GPathogenic/Likely pathogenic
Select item 1357298	NM_001242896.3(DEPDC5):c.2533C>T (p.Arg845Cys)	DEPDC5 (R845C +3 more)	Single nucleotide variant (missense variant +1 more)	Familial focal epilepsy with variable foci +1 more	GUncertain significance
Select item 264737	NM_001242896.3(DEPDC5):c.2620C>T (p.Arg874Ter)	DEPDC5 (R796* +3 more)	Single nucleotide variant (nonsense +1 more)	Familial focal epilepsy with variable foci +2 more	GPathogenic
Select item 1339014	NM_001242896.3(DEPDC5):c.2666C>T (p.Thr889Ile)	DEPDC5 (T811I +3 more)	Single nucleotide variant (missense variant +1 more)	Familial focal epilepsy with variable foci +1 more	GUncertain significance
Select item 1878559	NM_001242896.3(DEPDC5):c.3887T>C (p.Val1296Ala)	DEPDC5 (V1196A +6 more)	Single nucleotide variant (missense variant +1 more)	Epilepsy, familial focal, with variable foci 1	GUncertain significance
Select item 962861	NM_001242896.3(DEPDC5):c.4808C>T (p.Pro1603Leu)	DEPDC5 (P1503L +6 more)	Single nucleotide variant (missense variant +1 more)	Familial focal epilepsy with variable foci +2 more	GUncertain significance