"Labcorp Genetics (formerly Invitae), Labcorp"[submitter] AND "DEPDC5" - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 647951	NC_000022.11:g.(?_31754902)_(31906517_?)del	DEPDC5, LOC125446219 +2 more	Deletion	Epilepsy, familial focal, with variable foci 1	GPathogenic
Select item 534829	NC_000022.11:g.(?_31754902)_(31815232_?)del	DEPDC5, LOC130067262	Deletion	Epilepsy, familial focal, with variable foci 1	GPathogenic
Select item 1521441	NM_001242896.3(DEPDC5):c.1A>G (p.Met1Val)	DEPDC5 (M1V)	Single nucleotide variant (missense variant +2 more)	Familial focal epilepsy with variable foci	GUncertain significance
Select item 407350	NM_001242896.3(DEPDC5):c.5G>A (p.Arg2Lys)	DEPDC5 (R2K)	Single nucleotide variant (missense variant +1 more)	not specified +3 more	GConflicting classifications of pathogenicity
Select item 1023573	NM_001242896.3(DEPDC5):c.8CAA[1] (p.Thr4del)	DEPDC5 (T4del)	Microsatellite (inframe_deletion +1 more)	Familial focal epilepsy with variable foci	GUncertain significance
Select item 2162594	NM_001242896.3(DEPDC5):c.14A>G (p.Lys5Arg)	DEPDC5 (K5R)	Single nucleotide variant (missense variant +1 more)	Familial focal epilepsy with variable foci	GUncertain significance
Select item 2911885	NM_001242896.3(DEPDC5):c.18C>T (p.Val6=)	DEPDC5	Single nucleotide variant (synonymous variant +1 more)	Familial focal epilepsy with variable foci	GUncertain significance
Select item 466464	NM_001242896.3(DEPDC5):c.20A>G (p.Tyr7Cys)	DEPDC5 (Y7C)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases +1 more	GUncertain significance
Select item 50819	NM_001242896.3(DEPDC5):c.21C>G (p.Tyr7Ter)	DEPDC5 (Y7*)	Single nucleotide variant (nonsense +1 more)	not provided +3 more	GPathogenic
Select item 420294	NM_001242896.3(DEPDC5):c.28G>A (p.Val10Ile)	DEPDC5 (V10I)	Single nucleotide variant (missense variant +1 more)	Familial focal epilepsy with variable foci +1 more	GUncertain significance
Select item 2757563	NM_001242896.3(DEPDC5):c.42G>A (p.Lys14=)	DEPDC5	Single nucleotide variant (non-coding transcript variant +1 more)	Familial focal epilepsy with variable foci	GLikely benign
Select item 698230	NM_001242896.3(DEPDC5):c.45C>T (p.Gly15=)	DEPDC5	Single nucleotide variant (synonymous variant +1 more)	Inborn genetic diseases +1 more	GLikely benign
Select item 2033647	NM_001242896.3(DEPDC5):c.58+1G>A	DEPDC5	Single nucleotide variant (splice donor variant)	Familial focal epilepsy with variable foci	GLikely pathogenic
Select item 2091049	NM_001242896.3(DEPDC5):c.58+2T>C	DEPDC5	Single nucleotide variant (splice donor variant)	Familial focal epilepsy with variable foci	GLikely pathogenic
Select item 1016735	NM_001242896.3(DEPDC5):c.58+6T>C	DEPDC5	Single nucleotide variant (intron variant)	Familial focal epilepsy with variable foci	GUncertain significance
Select item 2850967	NM_001242896.3(DEPDC5):c.58+9C>T	DEPDC5	Single nucleotide variant (intron variant)	Familial focal epilepsy with variable foci	GLikely benign
Select item 2152126	NM_001242896.3(DEPDC5):c.58+10G>C	DEPDC5	Single nucleotide variant (intron variant)	Familial focal epilepsy with variable foci	GLikely benign
Select item 2001852	NM_001242896.3(DEPDC5):c.58+10G>T	DEPDC5	Single nucleotide variant (intron variant)	Familial focal epilepsy with variable foci	GLikely benign
Select item 1084749	NM_001242896.3(DEPDC5):c.58+10G>A	DEPDC5	Single nucleotide variant (intron variant)	Familial focal epilepsy with variable foci	GLikely benign
Select item 2741542	NM_001242896.3(DEPDC5):c.58+15G>A	DEPDC5	Single nucleotide variant (intron variant)	Familial focal epilepsy with variable foci	GLikely benign
Select item 1574910	NM_001242896.3(DEPDC5):c.58+17C>T	DEPDC5	Single nucleotide variant (intron variant)	Familial focal epilepsy with variable foci	GLikely benign
Select item 584322	NC_000022.11:g.(?_31758526)_(31758653_?)del	DEPDC5	Deletion	Epilepsy, familial focal, with variable foci 1 +1 more	GPathogenic
Select item 2065820	NM_001242896.3(DEPDC5):c.59-3C>T	DEPDC5	Single nucleotide variant (intron variant)	Familial focal epilepsy with variable foci	GUncertain significance
Select item 422704	NM_001242896.3(DEPDC5):c.59-3C>G	DEPDC5	Single nucleotide variant (intron variant)	not provided +1 more	GUncertain significance
Select item 2831348	NM_001242896.3(DEPDC5):c.59-2A>G	DEPDC5	Single nucleotide variant (splice acceptor variant)	Familial focal epilepsy with variable foci	GLikely pathogenic
Select item 1626452	NM_001242896.3(DEPDC5):c.69A>G (p.Leu23=)	DEPDC5	Single nucleotide variant (synonymous variant +1 more)	Familial focal epilepsy with variable foci	GLikely benign
Select item 414451	NM_001242896.3(DEPDC5):c.71T>G (p.Val24Gly)	DEPDC5 (V24G)	Single nucleotide variant (missense variant +1 more)	Familial focal epilepsy with variable foci	GLikely benign
Select item 1047638	NM_001242896.3(DEPDC5):c.80C>T (p.Pro27Leu)	DEPDC5 (P27L)	Single nucleotide variant (missense variant +1 more)	Familial focal epilepsy with variable foci	GUncertain significance
Select item 939381	NM_001242896.3(DEPDC5):c.82A>G (p.Lys28Glu)	DEPDC5 (K28E)	Single nucleotide variant (missense variant +1 more)	Familial focal epilepsy with variable foci	GUncertain significance
Select item 2176774	NM_001242896.3(DEPDC5):c.83A>G (p.Lys28Arg)	DEPDC5 (K28R)	Single nucleotide variant (missense variant +1 more)	Familial focal epilepsy with variable foci	GUncertain significance
Select item 644134	NM_001242896.3(DEPDC5):c.90C>G (p.Phe30Leu)	DEPDC5 (F30L)	Single nucleotide variant (missense variant +1 more)	not provided +1 more	GUncertain significance
Select item 1045465	NM_001242896.3(DEPDC5):c.95A>G (p.His32Arg)	DEPDC5 (H32R)	Single nucleotide variant (missense variant +1 more)	Epilepsy, familial focal, with variable foci 1 +2 more	GUncertain significance
Select item 2196444	NM_001242896.3(DEPDC5):c.96C>T (p.His32=)	DEPDC5	Single nucleotide variant (synonymous variant +1 more)	Familial focal epilepsy with variable foci	GLikely benign
Select item 1501880	NM_001242896.3(DEPDC5):c.97A>G (p.Ile33Val)	DEPDC5 (I33V)	Single nucleotide variant (missense variant +1 more)	Familial focal epilepsy with variable foci	GUncertain significance
Select item 2413365	NM_001242896.3(DEPDC5):c.113T>C (p.Ile38Thr)	DEPDC5 (I38T)	Single nucleotide variant (missense variant +1 more)	Epilepsy, familial focal, with variable foci 1 +1 more	GUncertain significance
Select item 1060985	NM_001242896.3(DEPDC5):c.114T>G (p.Ile38Met)	DEPDC5 (I38M)	Single nucleotide variant (missense variant +1 more)	Familial focal epilepsy with variable foci +1 more	GUncertain significance
Select item 2716931	NM_001242896.3(DEPDC5):c.129C>A (p.His43Gln)	DEPDC5 (H43Q)	Single nucleotide variant (missense variant +1 more)	Familial focal epilepsy with variable foci	GUncertain significance
Select item 2721132	NM_001242896.3(DEPDC5):c.130C>T (p.Pro44Ser)	DEPDC5 (P44S)	Single nucleotide variant (missense variant +1 more)	Familial focal epilepsy with variable foci	GUncertain significance
Select item 534808	NM_001242896.3(DEPDC5):c.130C>G (p.Pro44Ala)	DEPDC5 (P44A)	Single nucleotide variant (missense variant +1 more)	Familial focal epilepsy with variable foci +1 more	GUncertain significance
Select item 751825	NM_001242896.3(DEPDC5):c.132C>T (p.Pro44=)	DEPDC5	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 1136934	NM_001242896.3(DEPDC5):c.135C>T (p.Asn45=)	DEPDC5	Single nucleotide variant (synonymous variant +1 more)	Familial focal epilepsy with variable foci	GLikely benign
Select item 2177150	NM_001242896.3(DEPDC5):c.137A>T (p.Asp46Val)	DEPDC5 (D46V)	Single nucleotide variant (missense variant +1 more)	not provided +1 more	GUncertain significance
Select item 2653074	NM_001242896.3(DEPDC5):c.138T>C (p.Asp46=)	DEPDC5	Single nucleotide variant (synonymous variant +1 more)	Familial focal epilepsy with variable foci +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)	Familial focal epilepsy with variable foci +2 more	GLikely benign
Select item 1034985	NM_001242896.3(DEPDC5):c.140A>G (p.Glu47Gly)	DEPDC5 (E47G)	Single nucleotide variant (missense variant +1 more)	Familial focal epilepsy with variable foci	GUncertain significance
Select item 414471	NM_001242896.3(DEPDC5):c.146+5G>A	DEPDC5	Single nucleotide variant (intron variant)	Familial focal epilepsy with variable foci +2 more	GBenign/Likely benign
Select item 2744707	NM_001242896.3(DEPDC5):c.146+7G>A	DEPDC5	Single nucleotide variant (intron variant)	Familial focal epilepsy with variable foci	GLikely benign
Select item 2156636	NM_001242896.3(DEPDC5):c.146+9C>T	DEPDC5	Single nucleotide variant (intron variant)	Familial focal epilepsy with variable foci	GLikely benign
Select item 1118084	NM_001242896.3(DEPDC5):c.146+9C>G	DEPDC5	Single nucleotide variant (intron variant)	Familial focal epilepsy with variable foci	GLikely benign
Select item 1582240	NM_001242896.3(DEPDC5):c.146+18T>C	DEPDC5	Single nucleotide variant (intron variant)	Familial focal epilepsy with variable foci	GLikely benign
Select item 2699788	NM_001242896.3(DEPDC5):c.146+20C>T	DEPDC5	Single nucleotide variant (intron variant)	Familial focal epilepsy with variable foci	GLikely benign
Select item 2778809	NM_001242896.3(DEPDC5):c.147-17G>A	DEPDC5	Single nucleotide variant (intron variant)	Familial focal epilepsy with variable foci	GLikely benign
Select item 1083042	NM_001242896.3(DEPDC5):c.147-9_147-6del	DEPDC5	Microsatellite (intron variant)	Familial focal epilepsy with variable foci	GLikely benign
Select item 1641345	NM_001242896.3(DEPDC5):c.147-10T>G	DEPDC5	Single nucleotide variant (intron variant)	Familial focal epilepsy with variable foci	GLikely benign
Select item 1425231	NM_001242896.3(DEPDC5):c.147-3C>G	DEPDC5	Single nucleotide variant (intron variant)	Familial focal epilepsy with variable foci	GUncertain significance
Select item 2104363	NM_001242896.3(DEPDC5):c.147-1G>C	DEPDC5	Single nucleotide variant (splice acceptor variant)	Familial focal epilepsy with variable foci	GLikely pathogenic
Select item 1069249	NM_001242896.3(DEPDC5):c.158del (p.Leu53fs)	DEPDC5 (L53fs)	Deletion (frameshift variant +1 more)	Familial focal epilepsy with variable foci	GPathogenic
Select item 1052551	NM_001242896.3(DEPDC5):c.155T>A (p.Leu52His)	DEPDC5 (L52H)	Single nucleotide variant (missense variant +1 more)	Familial focal epilepsy with variable foci	GUncertain significance
Select item 264749	NM_001242896.3(DEPDC5):c.161A>C (p.Gln54Pro)	DEPDC5 (Q54P)	Single nucleotide variant (missense variant +1 more)	Epilepsy, familial focal, with variable foci 1 +3 more	GConflicting classifications of pathogenicity
Select item 1463565	NM_001242896.3(DEPDC5):c.165C>G (p.Val55=)	DEPDC5	Single nucleotide variant (synonymous variant +1 more)	Familial focal epilepsy with variable foci	GLikely benign
Select item 644724	NM_001242896.3(DEPDC5):c.167A>G (p.Lys56Arg)	DEPDC5 (K56R)	Single nucleotide variant (missense variant +1 more)	Familial focal epilepsy with variable foci	GUncertain significance
Select item 1471763	NM_001242896.3(DEPDC5):c.170C>A (p.Ser57Tyr)	DEPDC5 (S57Y)	Single nucleotide variant (missense variant +1 more)	not provided +1 more	GUncertain significance
Select item 1074536	NM_001242896.3(DEPDC5):c.176dup (p.Glu60fs)	DEPDC5 (E60fs)	Duplication (frameshift variant +1 more)	Familial focal epilepsy with variable foci	GPathogenic
Select item 2704082	NM_001242896.3(DEPDC5):c.175A>G (p.Lys59Glu)	DEPDC5 (K59E)	Single nucleotide variant (missense variant +1 more)	Familial focal epilepsy with variable foci	GUncertain significance
Select item 1402689	NM_001242896.3(DEPDC5):c.178del (p.Glu60fs)	DEPDC5 (E60fs)	Deletion (frameshift variant +1 more)	Familial focal epilepsy with variable foci	GPathogenic
Select item 698678	NM_001242896.3(DEPDC5):c.180A>G (p.Glu60=)	DEPDC5	Single nucleotide variant (synonymous variant +1 more)	Familial focal epilepsy with variable foci	GLikely benign
Select item 1556115	NM_001242896.3(DEPDC5):c.186A>G (p.Leu62=)	DEPDC5	Single nucleotide variant (synonymous variant +1 more)	Familial focal epilepsy with variable foci	GLikely benign
Select item 1364490	NM_001242896.3(DEPDC5):c.187C>T (p.Gln63Ter)	DEPDC5 (Q63*)	Single nucleotide variant (nonsense +1 more)	Familial focal epilepsy with variable foci	GPathogenic
Select item 264714	NM_001242896.3(DEPDC5):c.193+1G>A	DEPDC5	Single nucleotide variant (splice donor variant)	Familial focal epilepsy with variable foci	GPathogenic
Select item 1364912	NM_001242896.3(DEPDC5):c.193+3A>G	DEPDC5	Single nucleotide variant (intron variant)	Familial focal epilepsy with variable foci	GUncertain significance
Select item 2887109	NM_001242896.3(DEPDC5):c.193+5G>T	DEPDC5	Single nucleotide variant (intron variant)	Familial focal epilepsy with variable foci	GUncertain significance
Select item 1436620	NM_001242896.3(DEPDC5):c.193+5G>A	DEPDC5	Single nucleotide variant (intron variant)	Familial focal epilepsy with variable foci	GUncertain significance
Select item 1135073	NM_001242896.3(DEPDC5):c.193+10A>G	DEPDC5	Single nucleotide variant (intron variant)	Familial focal epilepsy with variable foci	GLikely benign
Select item 1652809	NM_001242896.3(DEPDC5):c.193+11T>A	DEPDC5	Single nucleotide variant (intron variant)	Familial focal epilepsy with variable foci	GLikely benign
Select item 1655452	NM_001242896.3(DEPDC5):c.193+12A>G	DEPDC5	Single nucleotide variant (intron variant)	Familial focal epilepsy with variable foci	GBenign
Select item 1386652	NM_001242896.3(DEPDC5):c.193+15_193+18del	DEPDC5	Deletion (intron variant)	Familial focal epilepsy with variable foci	GUncertain significance
Select item 2727660	NM_001242896.3(DEPDC5):c.193+14C>G	DEPDC5	Single nucleotide variant (intron variant)	Familial focal epilepsy with variable foci	GLikely benign
Select item 2714237	NM_001242896.3(DEPDC5):c.193+14C>T	DEPDC5	Single nucleotide variant (intron variant)	Familial focal epilepsy with variable foci	GLikely benign
Select item 1580438	NM_001242896.3(DEPDC5):c.193+19T>C	DEPDC5	Single nucleotide variant (intron variant)	Familial focal epilepsy with variable foci	GLikely benign
Select item 653533	NC_000022.11:g.(?_31764955)_(31766688_?)del	DEPDC5	Deletion	Familial focal epilepsy with variable foci +1 more	GPathogenic
Select item 2742442	NM_001242896.3(DEPDC5):c.194-19G>A	DEPDC5	Single nucleotide variant (intron variant)	Familial focal epilepsy with variable foci	GLikely benign
Select item 1594605	NM_001242896.3(DEPDC5):c.194-16A>G	DEPDC5	Single nucleotide variant (intron variant)	Familial focal epilepsy with variable foci	GLikely benign
Select item 509748	NM_001242896.3(DEPDC5):c.194-5T>C	DEPDC5	Single nucleotide variant (intron variant)	Familial focal epilepsy with variable foci +1 more	GLikely benign
Select item 941981	NM_001242896.3(DEPDC5):c.194-3T>C	DEPDC5	Single nucleotide variant (intron variant)	Familial focal epilepsy with variable foci	GUncertain significance
Select item 1066886	NM_001242896.3(DEPDC5):c.194-1G>C	DEPDC5	Single nucleotide variant (splice acceptor variant)	Familial focal epilepsy with variable foci	GLikely pathogenic
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 466463	NM_001242896.3(DEPDC5):c.204T>C (p.Ser68=)	DEPDC5	Single nucleotide variant (synonymous variant +1 more)	Familial focal epilepsy with variable foci	GLikely benign
Select item 1069270	NM_001242896.3(DEPDC5):c.208_209del (p.Asp70fs)	DEPDC5 (D70fs)	Deletion (frameshift variant +1 more)	Familial focal epilepsy with variable foci	GPathogenic
Select item 1365611	NM_001242896.3(DEPDC5):c.212dup (p.Thr72fs)	DEPDC5 (T72fs)	Duplication (frameshift variant +1 more)	Familial focal epilepsy with variable foci	GPathogenic
Select item 1353083	NM_001242896.3(DEPDC5):c.211C>T (p.Gln71Ter)	DEPDC5 (Q71*)	Single nucleotide variant (nonsense +1 more)	Familial focal epilepsy with variable foci	GPathogenic
Select item 1163674	NM_001242896.3(DEPDC5):c.218_219del (p.Val73fs)	DEPDC5 (V73fs)	Microsatellite (non-coding transcript variant +1 more)	not provided +1 more	GPathogenic/Likely pathogenic
Select item 842062	NM_001242896.3(DEPDC5):c.224A>C (p.Gln75Pro)	DEPDC5 (Q75P)	Single nucleotide variant (missense variant +1 more)	Familial focal epilepsy with variable foci	GUncertain significance
Select item 2845439	NM_001242896.3(DEPDC5):c.231_232dup (p.Arg78fs)	DEPDC5 (R78fs)	Duplication (frameshift variant +1 more)	Familial focal epilepsy with variable foci	GPathogenic
Select item 2113366	NM_001242896.3(DEPDC5):c.232dup (p.Arg78fs)	DEPDC5 (R78fs)	Duplication (frameshift variant +1 more)	Familial focal epilepsy with variable foci	GPathogenic
Select item 871543	NM_001242896.3(DEPDC5):c.232del (p.Arg78fs)	DEPDC5 (R78fs)	Deletion (frameshift variant +1 more)	Seizure +2 more	GPathogenic/Likely pathogenic
Select item 534797	NM_001242896.3(DEPDC5):c.233G>C (p.Arg78Pro)	DEPDC5 (R78P)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases +2 more	GConflicting classifications of pathogenicity
Select item 466468	NM_001242896.3(DEPDC5):c.233G>A (p.Arg78Gln)	DEPDC5 (R78Q)	Single nucleotide variant (missense variant +1 more)	Familial focal epilepsy with variable foci	GUncertain significance
Select item 2023825	NM_001242896.3(DEPDC5):c.239_245dup (p.Tyr82Ter)	DEPDC5 (Y82*)	Duplication (nonsense +1 more)	Familial focal epilepsy with variable foci	GPathogenic
Select item 1073664	NM_001242896.3(DEPDC5):c.247C>T (p.Gln83Ter)	DEPDC5 (Q83*)	Single nucleotide variant (nonsense +1 more)	Familial focal epilepsy with variable foci	GPathogenic
Select item 466472	NM_001242896.3(DEPDC5):c.252T>C (p.Asp84=)	DEPDC5	Single nucleotide variant (synonymous variant +1 more)	not provided +2 more	GLikely benign

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