"Institute of Human Genetics, University of Leipzig Medical Center"[su - ClinVar - NCBI

Warning: The NCBI web site requires JavaScript to function. more...

Search results

Items: 14

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 1297052	NM_001242896.3(DEPDC5):c.767+1G>A	DEPDC5	Single nucleotide variant (splice donor variant)	Familial focal epilepsy with variable foci +1 more	GPathogenic/Likely pathogenic
Select item 2500333	NM_001242896.3(DEPDC5):c.828del (p.Lys276fs)	DEPDC5 (K248fs +1 more)	Deletion (frameshift variant +1 more)	Epilepsy, familial focal, with variable foci 1	GLikely pathogenic
Select item 654060	NM_001242896.3(DEPDC5):c.1018del (p.Val340fs)	DEPDC5 (V312fs +1 more)	Deletion (frameshift variant +1 more)	Familial focal epilepsy with variable foci +2 more	GPathogenic/Likely pathogenic
Select item 374455	NM_001242896.3(DEPDC5):c.1474C>T (p.Arg492Ter)	DEPDC5 (R492* +1 more)	Single nucleotide variant (nonsense +1 more)	not provided +1 more	GPathogenic/Likely pathogenic
Select item 1299332	NM_001242896.3(DEPDC5):c.1725dup (p.His576fs)	DEPDC5 (H548fs +1 more)	Duplication (frameshift variant +1 more)	Epilepsy, familial focal, with variable foci 1	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 disorder +4 more	GBenign/Likely benign
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 983083	NM_001242896.3(DEPDC5):c.2783C>T (p.Ala928Val)	DEPDC5 (A850V +3 more)	Single nucleotide variant (missense variant +1 more)	Epilepsy, familial focal, with variable foci 1	GUncertain significance
Select item 854935	NM_001242896.3(DEPDC5):c.3479A>T (p.Asp1160Val)	DEPDC5 (D1160V +6 more)	Single nucleotide variant (missense variant +1 more)	Familial focal epilepsy with variable foci +1 more	GUncertain significance
Select item 1804123	NM_001242896.3(DEPDC5):c.3486-3_3486-1delinsA	DEPDC5	Indel (non-coding transcript variant +1 more)	Epilepsy, familial focal, with variable foci 1	GLikely pathogenic
Select item 264741	NM_001242896.3(DEPDC5):c.3802C>T (p.Arg1268Ter)	DEPDC5 (R1168* +6 more)	Single nucleotide variant (nonsense +1 more)	Epilepsy, familial focal, with variable foci 1 +2 more	GPathogenic
Select item 2430269	NM_001242896.3(DEPDC5):c.4084_4087dup (p.Arg1363fs)	DEPDC5 (R1263fs +6 more)	Duplication (frameshift variant +1 more)	Epilepsy, familial focal, with variable foci 1	GLikely pathogenic
Select item 2580322	GRCh37/hg19 22q12.2-12.3(chr22:32134323-32243003)x1	DEPDC5, PRR14L	Copy number loss	Epilepsy, familial focal, with variable foci 1	GLikely pathogenic
Select item 3068493	NM_001242896.3:c.(146+1_147-1)_(279+1_280-1)dup	DEPDC5	Duplication	Epilepsy, familial focal, with variable foci 1	GUncertain significance