"PreventionGenetics, part of Exact Sciences"[submitter] AND "DEPDC5"[g - ClinVar

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

Search results

Items: 68

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 414451	NM_001242896.3(DEPDC5):c.71T>G (p.Val24Gly)	DEPDC5 (V24G)	Single nucleotide variant (missense variant +1 more)	DEPDC5-related disorder +1 more	GLikely benign
Select item 466452	NM_001242896.3(DEPDC5):c.138T>A (p.Asp46Glu)	DEPDC5 (D46E)	Single nucleotide variant (missense variant +1 more)	DEPDC5-related disorder +2 more	GLikely benign
Select item 1641345	NM_001242896.3(DEPDC5):c.147-10T>G	DEPDC5	Single nucleotide variant (intron variant)	DEPDC5-related disorder +1 more	GLikely benign
Select item 264749	NM_001242896.3(DEPDC5):c.161A>C (p.Gln54Pro)	DEPDC5 (Q54P)	Single nucleotide variant (missense variant +1 more)	Familial focal epilepsy with variable foci +4 more	GConflicting classifications of pathogenicity
Select item 466473	NM_001242896.3(DEPDC5):c.262A>G (p.Asn88Asp)	DEPDC5 (N88D)	Single nucleotide variant (missense variant +1 more)	DEPDC5-related disorder +4 more	GConflicting classifications of pathogenicity
Select item 466484	NM_001242896.3(DEPDC5):c.363+6_363+7del	DEPDC5	Deletion (intron variant)	not provided +3 more	GBenign/Likely benign
Select item 257662	NM_001242896.3(DEPDC5):c.364-10C>T	DEPDC5	Single nucleotide variant (intron variant)	not provided +2 more	GBenign
Select item 3046421	NM_001242896.3(DEPDC5):c.364-9T>A	DEPDC5	Single nucleotide variant (intron variant)	DEPDC5-related disorder	GLikely benign
Select item 2630261	NM_001242896.3(DEPDC5):c.364-1G>C	DEPDC5	Single nucleotide variant (splice acceptor variant)	DEPDC5-related disorder	GLikely pathogenic
Select item 2716513	NM_001242896.3(DEPDC5):c.414-7C>T	DEPDC5	Single nucleotide variant (intron variant)	DEPDC5-related disorder +1 more	GLikely benign
Select item 1914833	NM_001242896.3(DEPDC5):c.767+10G>C	DEPDC5	Single nucleotide variant (intron variant)	Familial focal epilepsy with variable foci +1 more	GLikely benign
Select item 534812	NM_001242896.3(DEPDC5):c.871+9T>C	DEPDC5	Single nucleotide variant (intron variant)	DEPDC5-related disorder +1 more	GLikely benign
Select item 257663	NM_001242896.3(DEPDC5):c.885A>G (p.Gln295=)	DEPDC5	Single nucleotide variant (synonymous variant +1 more)	not specified +3 more	GBenign
Select item 466499	NM_001242896.3(DEPDC5):c.946+10G>C	DEPDC5	Single nucleotide variant (intron variant)	DEPDC5-related disorder +1 more	GLikely benign
Select item 257657	NM_001242896.3(DEPDC5):c.1095T>C (p.Asp365=)	DEPDC5	Single nucleotide variant (synonymous variant +1 more)	Inborn genetic diseases +3 more	GBenign
Select item 2322936	NM_001242896.3(DEPDC5):c.1148A>G (p.His383Arg)	DEPDC5 (H355R +1 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases +1 more	GUncertain significance
Select item 2635277	NM_001242896.3(DEPDC5):c.1159G>A (p.Ala387Thr)	DEPDC5 (A359T +1 more)	Single nucleotide variant (missense variant +1 more)	Familial focal epilepsy with variable foci +1 more	GUncertain significance
Select item 238672	NM_001242896.3(DEPDC5):c.1165C>T (p.Arg389Cys)	DEPDC5 (R389C +1 more)	Single nucleotide variant (missense variant +1 more)	not provided +3 more	GBenign
Select item 1166556	NM_001242896.3(DEPDC5):c.1218-5del	DEPDC5	Deletion (intron variant)	DEPDC5-related disorder +2 more	GBenign/Likely benign
Select item 2629877	NM_001242896.3(DEPDC5):c.1300A>G (p.Lys434Glu)	DEPDC5 (K406E +1 more)	Single nucleotide variant (missense variant +1 more)	DEPDC5-related disorder	GUncertain significance
Select item 257658	NM_001242896.3(DEPDC5):c.1323A>C (p.Thr441=)	DEPDC5	Single nucleotide variant (synonymous variant +1 more)	not specified +3 more	GBenign
Select item 414450	NM_001242896.3(DEPDC5):c.1330G>A (p.Gly444Arg)	DEPDC5 (G444R +1 more)	Single nucleotide variant (missense variant +1 more)	DEPDC5-related disorder +4 more	GBenign/Likely benign
Select item 420430	NM_001242896.3(DEPDC5):c.1525C>T (p.Arg509Cys)	DEPDC5 (R509C +1 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases +4 more	GConflicting classifications of pathogenicity
Select item 3044849	NM_001242896.3(DEPDC5):c.1666+194_1666+195dup	DEPDC5	Duplication (intron variant)	DEPDC5-related disorder	GLikely benign
Select item 3033951	NM_001242896.3(DEPDC5):c.1666+189_1666+195del	DEPDC5	Deletion (intron variant)	DEPDC5-related disorder	GLikely benign
Select item 1291325	NM_001242896.3(DEPDC5):c.1666+194_1666+195del	DEPDC5	Deletion (intron variant)	not provided +1 more	GBenign
Select item 2633314	NM_001242896.3(DEPDC5):c.1811C>T (p.Ser604Phe)	DEPDC5 (S576F +1 more)	Single nucleotide variant (missense variant +1 more)	Familial focal epilepsy with variable foci +1 more	GUncertain significance
Select item 3030287	NM_001242896.3(DEPDC5):c.1866T>C (p.Pro622=)	DEPDC5	Single nucleotide variant (synonymous variant +1 more)	DEPDC5-related disorder	GLikely benign
Select item 257659	NM_001242896.3(DEPDC5):c.1922C>T (p.Ala641Val)	DEPDC5 (A641V +1 more)	Single nucleotide variant (missense variant +2 more)	Inborn genetic diseases +3 more	GBenign
Select item 1009140	NM_001242896.3(DEPDC5):c.1936A>G (p.Ser646Gly)	DEPDC5 (S618G +1 more)	Single nucleotide variant (missense variant +2 more)	DEPDC5-related disorder +1 more	GUncertain significance
Select item 1033378	NM_001242896.3(DEPDC5):c.1960T>C (p.Ser654Pro)	DEPDC5 (S626P +1 more)	Single nucleotide variant (missense variant +2 more)	Familial focal epilepsy with variable foci +2 more	GUncertain significance
Select item 466460	NM_001242896.3(DEPDC5):c.2004A>G (p.Gly668=)	DEPDC5	Single nucleotide variant (synonymous variant +2 more)	DEPDC5-related disorder +3 more	GBenign/Likely benign
Select item 466461	NM_001242896.3(DEPDC5):c.2006+3G>A	DEPDC5	Single nucleotide variant (intron variant)	Inborn genetic diseases +2 more	GConflicting classifications of pathogenicity
Select item 2630710	NM_001242896.3(DEPDC5):c.2010C>T (p.His670=)	DEPDC5	Single nucleotide variant (synonymous variant +2 more)	DEPDC5-related disorder	GUncertain significance
Select item 238673	NM_001242896.3(DEPDC5):c.2020C>T (p.Arg674Cys)	DEPDC5 (R674C +1 more)	Single nucleotide variant (missense variant +2 more)	not provided +4 more	GBenign/Likely benign
Select item 1077306	NM_001242896.3(DEPDC5):c.2049G>A (p.Leu683=)	DEPDC5	Single nucleotide variant (synonymous variant +2 more)	Familial focal epilepsy with variable foci +1 more	GConflicting classifications of pathogenicity
Select item 238674	NM_001242896.3(DEPDC5):c.2055C>A (p.Phe685Leu)	DEPDC5 (F685L +1 more)	Single nucleotide variant (missense variant +2 more)	not provided +3 more	GBenign
Select item 3054775	NM_001242896.3(DEPDC5):c.2170+8G>C	DEPDC5	Single nucleotide variant (intron variant)	DEPDC5-related disorder	GLikely benign
Select item 257660	NM_001242896.3(DEPDC5):c.2170+11G>A	DEPDC5	Single nucleotide variant (intron variant)	not specified +2 more	GBenign
Select item 238676	NM_001242896.3(DEPDC5):c.2481G>A (p.Pro827=)	DEPDC5	Single nucleotide variant (synonymous variant +1 more)	not provided +3 more	GBenign
Select item 3054813	NM_001242896.3(DEPDC5):c.2515G>A (p.Gly839Ser)	DEPDC5 (G761S +3 more)	Single nucleotide variant (missense variant +1 more)	DEPDC5-related disorder	GUncertain significance
Select item 2632678	NM_001242896.3(DEPDC5):c.2521G>T (p.Val841Leu)	DEPDC5 (V763L +3 more)	Single nucleotide variant (missense variant +1 more)	DEPDC5-related disorder	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 534801	NM_001242896.3(DEPDC5):c.2576C>T (p.Thr859Met)	DEPDC5 (T859M +3 more)	Single nucleotide variant (missense variant +1 more)	DEPDC5-related disorder +4 more	GConflicting classifications of pathogenicity
Select item 1142232	NM_001242896.3(DEPDC5):c.2619G>A (p.Thr873=)	DEPDC5	Single nucleotide variant (synonymous variant +1 more)	DEPDC5-related disorder +1 more	GLikely benign
Select item 238677	NM_001242896.3(DEPDC5):c.2742G>A (p.Glu914=)	DEPDC5	Single nucleotide variant (synonymous variant +1 more)	not specified +3 more	GBenign
Select item 2635227	NM_001242896.3(DEPDC5):c.2768A>G (p.Gln923Arg)	DEPDC5 (Q845R +3 more)	Single nucleotide variant (missense variant +1 more)	Familial focal epilepsy with variable foci +1 more	GUncertain significance
Select item 590152	NM_001242896.3(DEPDC5):c.2784C>T (p.Ala928=)	DEPDC5	Single nucleotide variant (synonymous variant +1 more)	Inborn genetic diseases +3 more	GLikely benign
Select item 264759	NM_001242896.3(DEPDC5):c.3092C>A (p.Pro1031His)	DEPDC5 (P1031H +3 more)	Single nucleotide variant (missense variant +1 more)	DEPDC5-related disorder +2 more	GConflicting classifications of pathogenicity
Select item 1417903	NM_001242896.3(DEPDC5):c.3202G>A (p.Ala1068Thr)	DEPDC5 (A990T +3 more)	Single nucleotide variant (missense variant +1 more)	DEPDC5-related disorder +1 more	GUncertain significance
Select item 238679	NM_001242896.3(DEPDC5):c.3265-3C>T	DEPDC5	Single nucleotide variant (intron variant)	Epilepsy, familial focal, with variable foci 1 +4 more	GBenign/Likely benign
Select item 588880	NM_001242896.3(DEPDC5):c.3312G>A (p.Ser1104=)	DEPDC5	Single nucleotide variant (synonymous variant +2 more)	not provided +3 more	GLikely benign
Select item 2637238	NM_001242896.3(DEPDC5):c.3341A>T (p.Asp1114Val)	DEPDC5 (D1014V +6 more)	Single nucleotide variant (missense variant +1 more)	DEPDC5-related disorder	GUncertain significance
Select item 257661	NM_001242896.3(DEPDC5):c.3358A>G (p.Met1120Val)	DEPDC5 (M1020V +6 more)	Single nucleotide variant (missense variant +1 more)	Familial focal epilepsy with variable foci +3 more	GBenign
Select item 264763	NM_001242896.3(DEPDC5):c.3461C>T (p.Ser1154Phe)	DEPDC5 (S1054F +6 more)	Single nucleotide variant (missense variant +1 more)	Familial focal epilepsy with variable foci +3 more	GUncertain significance
Select item 534809	NM_001242896.3(DEPDC5):c.3486-5dup	DEPDC5	Duplication (non-coding transcript variant +1 more)	DEPDC5-related disorder +1 more	GLikely benign
Select item 414474	NM_001242896.3(DEPDC5):c.3567A>G (p.Thr1189=)	DEPDC5	Single nucleotide variant (synonymous variant +1 more)	Inborn genetic diseases +3 more	GBenign/Likely benign
Select item 1732806	NM_001242896.3(DEPDC5):c.3571G>A (p.Val1191Ile)	DEPDC5 (V1091I +6 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases +2 more	GConflicting classifications of pathogenicity
Select item 2653084	NM_001242896.3(DEPDC5):c.3805G>A (p.Val1269Met)	DEPDC5 (V1169M +6 more)	Single nucleotide variant (missense variant +1 more)	not provided +1 more	GUncertain significance
Select item 414464	NM_001242896.3(DEPDC5):c.3805+10G>A	DEPDC5	Single nucleotide variant (intron variant)	DEPDC5-related disorder +1 more	GLikely benign
Select item 2186893	NM_001242896.3(DEPDC5):c.4078G>A (p.Val1360Met)	DEPDC5 (V1360M +6 more)	Single nucleotide variant (missense variant +1 more)	Familial focal epilepsy with variable foci +1 more	GUncertain significance
Select item 590178	NM_001242896.3(DEPDC5):c.4203+5G>A	DEPDC5	Single nucleotide variant (intron variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 238682	NM_001242896.3(DEPDC5):c.4512C>T (p.His1504=)	DEPDC5	Single nucleotide variant (synonymous variant +1 more)	not provided +3 more	GBenign
Select item 3050873	NM_001242896.3(DEPDC5):c.4519+6G>A	DEPDC5	Single nucleotide variant (intron variant)	DEPDC5-related disorder	GLikely benign
Select item 466494	NM_001242896.3(DEPDC5):c.4683C>T (p.Ser1561=)	DEPDC5	Single nucleotide variant (synonymous variant +1 more)	DEPDC5-related disorder +3 more	GLikely benign
Select item 407343	NM_001242896.3(DEPDC5):c.4733A>G (p.Asp1578Gly)	DEPDC5 (D1578G +6 more)	Single nucleotide variant (missense variant +1 more)	DEPDC5-related disorder +3 more	GConflicting classifications of pathogenicity
Select item 3055944	NM_001242896.3(DEPDC5):c.4746C>T (p.Asn1582=)	DEPDC5	Single nucleotide variant (synonymous variant +1 more)	DEPDC5-related disorder	GLikely benign
Select item 257656	NM_001242896.3(DEPDC5):c.14_15insAGGGTTAGAAGGCTGCACC	DEPDC5	Insertion (3 prime UTR variant +1 more)	not specified +1 more	GBenign

ClinVar

Result Filters

Classification type

Germline classification

Types of conflicts

Molecular consequence

Variation type

Variation size

Variant length

Review status

Additional filters

Search results

Items: 68