DEPDC5[gene] - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 144164	GRCh38/hg38 22q11.1-13.33(chr22:16916608-50739836)x3	A4GALT, ACO2 +2088 more	Copy number gain	See cases	GPathogenic
Select item 145336	GRCh38/hg38 22q11.1-13.33(chr22:16916743-50739785)x3	LOC126863153, LOC126863154 +2088 more	Copy number gain	See cases	GPathogenic
Select item 57132	GRCh38/hg38 22q11.21-12.3(chr22:18178957-31821193)x3	ADORA2A, ADORA2A-AS1 +798 more	Copy number gain	See cases	GPathogenic
Select item 148861	GRCh38/hg38 22q11.21-12.3(chr22:20907226-37187347)x3	LOC130067137, LOC130067138 +823 more	Copy number gain	See cases	GPathogenic
Select item 149114	GRCh38/hg38 22q11.23-12.3(chr22:23279231-36247369)x3	LOC130067246, LOC130067247 +556 more	Copy number gain	See cases	GPathogenic
Select item 57002	GRCh38/hg38 22q12.1-12.3(chr22:26979579-33992220)x3	AP1B1, ASCC2 +307 more	Copy number gain	See cases	GPathogenic
Select item 3062346	GRCh38/hg38 22q12.2-12.3(chr22:31684443-31987722)	DEPDC5, LINC02558 +14 more	Copy number loss	Epilepsy syndrome	GPathogenic
Select item 433141	NM_001242896.3(DEPDC5):c.-57G>C	DEPDC5	Single nucleotide variant (5 prime UTR variant +1 more)	Childhood epilepsy with centrotemporal spikes	GPathogenic
Select item 647951	NC_000022.11:g.(?_31754902)_(31906517_?)del	LOC126863124, DEPDC5 +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 provided +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)	Familial focal epilepsy with variable foci +1 more	GUncertain significance
Select item 50819	NM_001242896.3(DEPDC5):c.21C>G (p.Tyr7Ter)	DEPDC5 (Y7*)	Single nucleotide variant (nonsense +1 more)	Familial focal epilepsy with variable foci +3 more	GPathogenic
Select item 420294	NM_001242896.3(DEPDC5):c.28G>A (p.Val10Ile)	DEPDC5 (V10I)	Single nucleotide variant (missense variant +1 more)	not provided +1 more	GUncertain significance
Select item 2757563	NM_001242896.3(DEPDC5):c.42G>A (p.Lys14=)	DEPDC5	Single nucleotide variant (synonymous 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 1707904	NM_001242896.3(DEPDC5):c.50G>T (p.Gly17Val)	DEPDC5 (G17V)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 264748	NM_001242896.3(DEPDC5):c.56G>C (p.Ser19Thr)	DEPDC5 (S19T)	Single nucleotide variant (missense variant +1 more)	Epilepsy, familial focal, with variable foci 1	Gnot provided
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 421111	NM_001242896.3(DEPDC5):c.58+5G>C	DEPDC5	Single nucleotide variant (intron variant)	not provided	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 1193199	NM_001242896.3(DEPDC5):c.58+148A>G	DEPDC5	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1208553	NM_001242896.3(DEPDC5):c.58+177A>G	DEPDC5	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1268398	NM_001242896.3(DEPDC5):c.58+249A>G	DEPDC5	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1218875	NM_001242896.3(DEPDC5):c.59-160T>C	DEPDC5	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1182487	NM_001242896.3(DEPDC5):c.59-57A>G	DEPDC5	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1231295	NM_001242896.3(DEPDC5):c.59-30T>C	DEPDC5	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 584322	NC_000022.11:g.(?_31758526)_(31758653_?)del	DEPDC5	Deletion	Familial focal epilepsy with variable foci +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)	Familial focal epilepsy with variable foci +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 264712	NM_001242896.3(DEPDC5):c.59-1G>C	DEPDC5	Single nucleotide variant (splice acceptor variant)	Epilepsy, familial focal, with variable foci 1	Gnot provided
Select item 1626452	NM_001242896.3(DEPDC5):c.69A>G (p.Leu23=)	DEPDC5	Single nucleotide variant (non-coding transcript 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 +1 more	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 (non-coding transcript variant +1 more)	Familial focal epilepsy with variable foci	GUncertain significance
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 644134	NM_001242896.3(DEPDC5):c.90C>G (p.Phe30Leu)	DEPDC5 (F30L)	Single nucleotide variant (missense variant +1 more)	Familial focal epilepsy with variable foci	GUncertain significance
Select item 1712538	NM_001242896.3(DEPDC5):c.94C>T (p.His32Tyr)	DEPDC5 (H32Y)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 1045465	NM_001242896.3(DEPDC5):c.95A>G (p.His32Arg)	DEPDC5 (H32R)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases +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)	Familial focal epilepsy with variable foci +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)	not provided +1 more	GUncertain significance
Select item 264713	NM_001242896.3(DEPDC5):c.132dup (p.Asn45fs)	DEPDC5 (N45fs)	Duplication (frameshift variant +1 more)	Epilepsy, familial focal, with variable foci 1	Gnot provided
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)	not provided +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 2480062	NM_001242896.3(DEPDC5):c.134A>G (p.Asn45Ser)	DEPDC5 (N45S)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
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)	Familial focal epilepsy with variable foci +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)	Inborn genetic diseases +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 1219391	NM_001242896.3(DEPDC5):c.147-42C>T	DEPDC5	Single nucleotide variant (intron variant)	not provided	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 +1 more	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 1299564	NM_001242896.3(DEPDC5):c.147-2A>C	DEPDC5	Single nucleotide variant (splice acceptor variant)	Epilepsy, familial focal, with variable foci 1	GPathogenic
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 2577613	NM_001242896.3(DEPDC5):c.158T>C (p.Leu53Ser)	DEPDC5 (L53S)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 264749	NM_001242896.3(DEPDC5):c.161A>C (p.Gln54Pro)	DEPDC5 (Q54P)	Single nucleotide variant (missense variant +1 more)	DEPDC5-related condition +4 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)	Familial focal epilepsy with variable foci	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 3081744	NM_001242896.3(DEPDC5):c.178G>C (p.Glu60Gln)	DEPDC5 (E60Q)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
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 817281	NM_001242896.3(DEPDC5):c.191del (p.Lys64fs)	DEPDC5 (K64fs)	Deletion (frameshift variant +1 more)	not provided	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

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