"Genome-Nilou Lab"[submitter] AND "DOCK7"[gene] - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 1302433	NM_001367561.1(DOCK7):c.6407G>A (p.Arg2136His)	DOCK7 (R2094H +5 more)	Single nucleotide variant (missense variant)	not provided +2 more	GUncertain significance
Select item 475168	NM_001367561.1(DOCK7):c.6381-6dup	DOCK7	Duplication (intron variant)	Developmental and epileptic encephalopathy, 23 +1 more	GBenign/Likely benign
Select item 475167	NM_001367561.1(DOCK7):c.6255G>A (p.Pro2085=)	DOCK7	Single nucleotide variant (synonymous variant)	Developmental and epileptic encephalopathy, 23 +1 more	GBenign
Select item 1255526	NM_001367561.1(DOCK7):c.6212+19G>A	DOCK7	Single nucleotide variant (intron variant)	Developmental and epileptic encephalopathy, 23 +2 more	GBenign
Select item 1389645	NM_001367561.1(DOCK7):c.6157A>G (p.Lys2053Glu)	DOCK7 (K2013E +5 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 661025	NM_001367561.1(DOCK7):c.6112T>G (p.Leu2038Val)	DOCK7 (L2029V +5 more)	Single nucleotide variant (missense variant)	Developmental and epileptic encephalopathy, 23 +1 more	GUncertain significance
Select item 475165	NM_001367561.1(DOCK7):c.6045C>T (p.Pro2015=)	DOCK7	Single nucleotide variant (synonymous variant)	Developmental and epileptic encephalopathy, 23 +1 more	GBenign/Likely benign
Select item 475164	NM_001367561.1(DOCK7):c.6018G>A (p.Glu2006=)	DOCK7	Single nucleotide variant (synonymous variant)	Developmental and epileptic encephalopathy, 23 +1 more	GLikely benign
Select item 1354108	NM_001367561.1(DOCK7):c.5906C>T (p.Thr1969Met)	DOCK7 (T1938M +5 more)	Single nucleotide variant (missense variant)	Developmental and epileptic encephalopathy, 23 +1 more	GUncertain significance
Select item 2160350	NM_001367561.1(DOCK7):c.5829C>T (p.Tyr1943=)	DOCK7	Single nucleotide variant (synonymous variant)	Developmental and epileptic encephalopathy, 23 +1 more	GLikely benign
Select item 1061727	NM_001367561.1(DOCK7):c.5810A>G (p.Asn1937Ser)	DOCK7 (N1895S +5 more)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 1334979	NM_001367561.1(DOCK7):c.5796C>T (p.Phe1932=)	DOCK7	Single nucleotide variant (synonymous variant)	Developmental and epileptic encephalopathy, 23 +1 more	GLikely benign
Select item 872293	NM_001367561.1(DOCK7):c.5731A>G (p.Ile1911Val)	DOCK7 (I1869V +5 more)	Single nucleotide variant (missense variant)	not provided +2 more	GUncertain significance
Select item 934131	NM_001367561.1(DOCK7):c.5693C>G (p.Pro1898Arg)	DOCK7 (P1856R +5 more)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 1017331	NM_001367561.1(DOCK7):c.5479A>G (p.Lys1827Glu)	DOCK7 (K1787E +3 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 1037959	NM_001367561.1(DOCK7):c.5368A>T (p.Met1790Leu)	DOCK7 (M1759L +3 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 806145	NM_001367561.1(DOCK7):c.5359A>G (p.Met1787Val)	DOCK7 (M1756V +3 more)	Single nucleotide variant (missense variant)	Developmental and epileptic encephalopathy, 23 +1 more	GUncertain significance
Select item 1020031	NM_001367561.1(DOCK7):c.5302T>C (p.Tyr1768His)	DOCK7 (Y1728H +3 more)	Single nucleotide variant (missense variant)	Developmental and epileptic encephalopathy, 23	GUncertain significance
Select item 475159	NM_001367561.1(DOCK7):c.5208A>T (p.Val1736=)	DOCK7	Single nucleotide variant (synonymous variant)	Developmental and epileptic encephalopathy, 23 +1 more	GLikely benign
Select item 574108	NM_001367561.1(DOCK7):c.5172G>A (p.Met1724Ile)	DOCK7 (M1715I +3 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 576669	NM_001367561.1(DOCK7):c.5102G>A (p.Arg1701Gln)	DOCK7 (R1670Q +3 more)	Single nucleotide variant (missense variant)	Developmental and epileptic encephalopathy, 23 +1 more	GUncertain significance
Select item 1011969	NM_001367561.1(DOCK7):c.5098G>C (p.Glu1700Gln)	DOCK7 (E1660Q +3 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 585797	NM_001367561.1(DOCK7):c.5062T>C (p.Leu1688=)	DOCK7	Single nucleotide variant (synonymous variant)	Developmental and epileptic encephalopathy, 23 +2 more	GBenign
Select item 863756	NM_001367561.1(DOCK7):c.4867A>G (p.Ile1623Val)	DOCK7 (I1583V +3 more)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 445501	NM_001367561.1(DOCK7):c.4844T>A (p.Phe1615Tyr)	DOCK7 (F1584Y +3 more)	Single nucleotide variant (missense variant)	Developmental and epileptic encephalopathy, 23 +1 more	GUncertain significance
Select item 475153	NM_001367561.1(DOCK7):c.4696G>A (p.Gly1566Ser)	DOCK7 (G1557S +3 more)	Single nucleotide variant (missense variant)	Developmental and epileptic encephalopathy, 23 +2 more	GBenign/Likely benign
Select item 475152	NM_001367561.1(DOCK7):c.4668G>A (p.Arg1556=)	DOCK7	Single nucleotide variant (synonymous variant)	Developmental and epileptic encephalopathy, 23 +1 more	GBenign/Likely benign
Select item 475151	NM_001367561.1(DOCK7):c.4653T>C (p.Ala1551=)	DOCK7	Single nucleotide variant (synonymous variant)	Developmental and epileptic encephalopathy, 23 +1 more	GLikely benign
Select item 1076900	NM_001367561.1(DOCK7):c.4637dup (p.Thr1547fs)	DOCK7 (T1507fs +3 more)	Duplication (frameshift variant)	Developmental and epileptic encephalopathy, 23	GPathogenic/Likely pathogenic
Select item 771268	NM_001367561.1(DOCK7):c.4491G>A (p.Thr1497=)	DOCK7	Single nucleotide variant (synonymous variant)	Developmental and epileptic encephalopathy, 23 +1 more	GLikely benign
Select item 541906	NM_001367561.1(DOCK7):c.4490C>T (p.Thr1497Met)	DOCK7 (T1488M +3 more)	Single nucleotide variant (missense variant)	Developmental and epileptic encephalopathy, 23 +1 more	GUncertain significance
Select item 573408	NM_001367561.1(DOCK7):c.4429A>G (p.Thr1477Ala)	DOCK7 (T1446A +3 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases +2 more	GUncertain significance
Select item 475148	NM_001367561.1(DOCK7):c.4415A>G (p.Asp1472Gly)	DOCK7 (D1463G +3 more)	Single nucleotide variant (missense variant)	Developmental and epileptic encephalopathy, 23 +1 more	GUncertain significance
Select item 1019395	NM_001367561.1(DOCK7):c.4394T>C (p.Ile1465Thr)	DOCK7 (I1425T +3 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 585796	NM_001367561.1(DOCK7):c.4368G>A (p.Glu1456=)	DOCK7	Single nucleotide variant (synonymous variant)	Developmental and epileptic encephalopathy, 23 +1 more	GLikely benign
Select item 475145	NM_001367561.1(DOCK7):c.4283-4A>G	DOCK7	Single nucleotide variant (intron variant)	not provided +1 more	GBenign
Select item 521571	NM_001367561.1(DOCK7):c.4138C>T (p.Arg1380Ter)	DOCK7 (R1349* +1 more)	Single nucleotide variant (nonsense)	Developmental and epileptic encephalopathy, 23 +2 more	GPathogenic
Select item 576166	NM_001367561.1(DOCK7):c.4073G>A (p.Arg1358Gln)	DOCK7 (R1358Q +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 475143	NM_001367561.1(DOCK7):c.4056A>G (p.Ser1352=)	DOCK7	Single nucleotide variant (synonymous variant)	Developmental and epileptic encephalopathy, 23 +1 more	GLikely benign
Select item 945842	NM_001367561.1(DOCK7):c.4003G>A (p.Val1335Ile)	DOCK7 (V1335I +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 541927	NM_001367561.1(DOCK7):c.3935C>T (p.Thr1312Met)	DOCK7 (T1281M +1 more)	Single nucleotide variant (missense variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 541911	NM_001367561.1(DOCK7):c.3852_3854del (p.Met1284del)	DOCK7 (M1253del +1 more)	Deletion (inframe_deletion)	not provided +1 more	GUncertain significance
Select item 1002674	NM_001367561.1(DOCK7):c.3844G>A (p.Gly1282Arg)	DOCK7 (G1251R +1 more)	Single nucleotide variant (missense variant)	Developmental and epileptic encephalopathy, 23 +1 more	GUncertain significance
Select item 582642	NM_001367561.1(DOCK7):c.3797G>A (p.Arg1266Gln)	DOCK7 (R1266Q +1 more)	Single nucleotide variant (missense variant)	not provided +2 more	GUncertain significance
Select item 656695	NM_001367561.1(DOCK7):c.3781+4C>G	DOCK7	Single nucleotide variant (intron variant)	Developmental and epileptic encephalopathy, 23 +2 more	GUncertain significance
Select item 853438	NM_001367561.1(DOCK7):c.3761C>T (p.Pro1254Leu)	DOCK7 (P1223L +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases +2 more	GUncertain significance
Select item 1412489	NM_001367561.1(DOCK7):c.3746T>C (p.Ile1249Thr)	DOCK7 (I1218T +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 475140	NM_001367561.1(DOCK7):c.3717C>G (p.Ala1239=)	DOCK7	Single nucleotide variant (synonymous variant)	Developmental and epileptic encephalopathy, 23 +1 more	GLikely benign
Select item 1024626	NM_001367561.1(DOCK7):c.3695C>G (p.Pro1232Arg)	DOCK7 (P1201R +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 1032725	NM_001367561.1(DOCK7):c.3689C>A (p.Ser1230Tyr)	DOCK7 (S1230Y +1 more)	Single nucleotide variant (missense variant)	Developmental and epileptic encephalopathy, 23 +1 more	GUncertain significance
Select item 954582	NM_001367561.1(DOCK7):c.3680C>T (p.Pro1227Leu)	DOCK7 (P1196L +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 1344913	NM_001367561.1(DOCK7):c.3676G>A (p.Asp1226Asn)	DOCK7 (D1195N +1 more)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 583352	NM_001367561.1(DOCK7):c.3646G>A (p.Val1216Ile)	DOCK7 (V1185I +1 more)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 949449	NM_001367561.1(DOCK7):c.3641A>G (p.Asn1214Ser)	DOCK7 (N1214S +1 more)	Single nucleotide variant (missense variant)	Developmental and epileptic encephalopathy, 23 +1 more	GUncertain significance
Select item 642611	NM_001367561.1(DOCK7):c.3541C>T (p.Arg1181Cys)	DOCK7 (R1150C +1 more)	Single nucleotide variant (missense variant)	Developmental and epileptic encephalopathy, 23	GUncertain significance
Select item 475138	NM_001367561.1(DOCK7):c.3508A>G (p.Ile1170Val)	DOCK7 (I1170V +1 more)	Single nucleotide variant (missense variant)	Developmental and epileptic encephalopathy, 23 +2 more	GUncertain significance
Select item 1437628	NM_001367561.1(DOCK7):c.3503A>G (p.Gln1168Arg)	DOCK7 (Q1137R +1 more)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 2064101	NM_001367561.1(DOCK7):c.3486T>G (p.Ser1162=)	DOCK7	Single nucleotide variant (synonymous variant)	not provided +1 more	GLikely benign
Select item 475137	NM_001367561.1(DOCK7):c.3472-5A>G	DOCK7	Single nucleotide variant (intron variant)	not provided +1 more	GBenign
Select item 640279	NM_001367561.1(DOCK7):c.3326C>T (p.Pro1109Leu)	DOCK7 (P1109L +1 more)	Single nucleotide variant (missense variant)	Developmental and epileptic encephalopathy, 23 +1 more	GUncertain significance
Select item 935638	NM_001367561.1(DOCK7):c.3250G>A (p.Val1084Ile)	DOCK7 (V1053I +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases +2 more	GUncertain significance
Select item 434958	NM_001367561.1(DOCK7):c.3246G>T (p.Leu1082Phe)	DOCK7 (L1051F +1 more)	Single nucleotide variant (missense variant)	not specified +1 more	GUncertain significance
Select item 957869	NM_001367561.1(DOCK7):c.3211A>G (p.Asn1071Asp)	DOCK7 (N1040D +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases +2 more	GUncertain significance
Select item 582798	NM_001367561.1(DOCK7):c.3152C>T (p.Thr1051Met)	DOCK7 (T1020M +1 more)	Single nucleotide variant (missense variant)	Developmental and epileptic encephalopathy, 23 +1 more	GUncertain significance
Select item 1032724	NM_001367561.1(DOCK7):c.3098G>A (p.Arg1033Lys)	DOCK7 (R1002K +1 more)	Single nucleotide variant (missense variant)	Developmental and epileptic encephalopathy, 23 +1 more	GUncertain significance
Select item 1953166	NM_001367561.1(DOCK7):c.3065A>T (p.His1022Leu)	DOCK7 (H991L +1 more)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 568545	NM_001367561.1(DOCK7):c.2932C>T (p.Arg978Cys)	DOCK7 (R978C +1 more)	Single nucleotide variant (missense variant)	not provided +2 more	GUncertain significance
Select item 434959	NM_001367561.1(DOCK7):c.2908A>G (p.Ser970Gly)	DOCK7 (S939G +1 more)	Single nucleotide variant (missense variant)	not provided +3 more	GUncertain significance
Select item 580886	NM_001367561.1(DOCK7):c.2882G>A (p.Arg961His)	DOCK7 (R961H +1 more)	Single nucleotide variant (missense variant)	Developmental and epileptic encephalopathy, 23 +1 more	GUncertain significance
Select item 1011660	NM_001367561.1(DOCK7):c.2747G>T (p.Arg916Leu)	DOCK7 (R916L)	Single nucleotide variant (missense variant)	Inborn genetic diseases +2 more	GUncertain significance
Select item 475134	NM_001367561.1(DOCK7):c.2700C>T (p.Ser900=)	DOCK7	Single nucleotide variant (synonymous variant)	Developmental and epileptic encephalopathy, 23 +1 more	GBenign/Likely benign
Select item 1032723	NM_001367561.1(DOCK7):c.2654G>T (p.Arg885Ile)	DOCK7 (R885I)	Single nucleotide variant (missense variant)	Developmental and epileptic encephalopathy, 23	GUncertain significance
Select item 952158	NM_001367561.1(DOCK7):c.2630C>G (p.Ala877Gly)	DOCK7 (A877G)	Single nucleotide variant (missense variant)	Developmental and epileptic encephalopathy, 23 +1 more	GUncertain significance
Select item 445702	NM_001367561.1(DOCK7):c.2612G>A (p.Gly871Glu)	DOCK7 (G871E)	Single nucleotide variant (missense variant)	Inborn genetic diseases +3 more	GUncertain significance
Select item 475133	NM_001367561.1(DOCK7):c.2605G>A (p.Gly869Ser)	DOCK7 (G869S)	Single nucleotide variant (missense variant)	Developmental and epileptic encephalopathy, 23 +2 more	GUncertain significance
Select item 541905	NM_001367561.1(DOCK7):c.2578C>A (p.Pro860Thr)	DOCK7 (P860T)	Single nucleotide variant (missense variant)	not provided +2 more	GUncertain significance
Select item 1163733	NM_001367561.1(DOCK7):c.2503A>G (p.Asn835Asp)	DOCK7 (N835D)	Single nucleotide variant (missense variant)	Developmental and epileptic encephalopathy, 23 +1 more	GConflicting classifications of pathogenicity
Select item 948309	NM_001367561.1(DOCK7):c.2500G>A (p.Gly834Arg)	DOCK7 (G834R)	Single nucleotide variant (missense variant)	Developmental and epileptic encephalopathy, 23 +1 more	GUncertain significance
Select item 377130	NM_001367561.1(DOCK7):c.2471T>C (p.Ile824Thr)	DOCK7 (I824T)	Single nucleotide variant (missense variant)	Developmental and epileptic encephalopathy, 23 +1 more	GBenign/Likely benign
Select item 571504	NM_001367561.1(DOCK7):c.2371C>A (p.Leu791Ile)	DOCK7 (L791I)	Single nucleotide variant (missense variant)	not provided +2 more	GUncertain significance
Select item 948942	NM_001367561.1(DOCK7):c.2360G>A (p.Arg787Gln)	DOCK7 (R787Q)	Single nucleotide variant (missense variant)	Developmental and epileptic encephalopathy, 23	GUncertain significance
Select item 445964	NM_001367561.1(DOCK7):c.2279G>A (p.Arg760Gln)	DOCK7 (R760Q)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 541934	NM_001367561.1(DOCK7):c.2250C>T (p.His750=)	DOCK7	Single nucleotide variant (synonymous variant)	not provided +1 more	GLikely benign
Select item 945315	NM_001367561.1(DOCK7):c.2203C>G (p.Pro735Ala)	DOCK7 (P735A)	Single nucleotide variant (missense variant)	Developmental and epileptic encephalopathy, 23 +1 more	GUncertain significance
Select item 568952	NM_001367561.1(DOCK7):c.2188A>G (p.Ile730Val)	DOCK7 (I730V)	Single nucleotide variant (missense variant)	Inborn genetic diseases +2 more	GUncertain significance
Select item 1575189	NM_001367561.1(DOCK7):c.2113-18A>G	DOCK7	Single nucleotide variant (intron variant)	Developmental and epileptic encephalopathy, 23 +1 more	GLikely benign
Select item 978101	NM_001367561.1(DOCK7):c.2035C>T (p.Arg679Trp)	DOCK7 (R679W)	Single nucleotide variant (missense variant)	Developmental and epileptic encephalopathy, 23 +2 more	GUncertain significance
Select item 569508	NM_001367561.1(DOCK7):c.2020A>G (p.Met674Val)	DOCK7 (M674V)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 1361340	NM_001367561.1(DOCK7):c.1985C>T (p.Pro662Leu)	DOCK7 (P662L)	Single nucleotide variant (missense variant)	Inborn genetic diseases +2 more	GUncertain significance
Select item 806147	NM_001367561.1(DOCK7):c.1884T>G (p.Phe628Leu)	DOCK7 (F628L)	Single nucleotide variant (missense variant)	Inborn genetic diseases +2 more	GUncertain significance
Select item 706994	NM_001367561.1(DOCK7):c.1872-9dup	DOCK7	Duplication (intron variant)	Developmental and epileptic encephalopathy, 23 +2 more	GBenign
Select item 706982	NM_001367561.1(DOCK7):c.1872-9del	DOCK7	Deletion (intron variant)	Developmental and epileptic encephalopathy, 23 +1 more	GBenign/Likely benign
Select item 835285	NM_001367561.1(DOCK7):c.1800G>A (p.Pro600=)	DOCK7	Single nucleotide variant (synonymous variant)	Developmental and epileptic encephalopathy, 23 +1 more	GUncertain significance
Select item 1167253	NM_014495.4(ANGPTL3):c.228C>G (p.Asn76Lys)	ANGPTL3, DOCK7 (N76K)	Single nucleotide variant (missense variant +1 more)	not provided +1 more	GBenign/Likely benign
Select item 2439036	NM_014495.4(ANGPTL3):c.280GAA[2] (p.Glu96del)	ANGPTL3, DOCK7 (E96del)	Microsatellite (inframe_deletion +1 more)	Familial hypobetalipoproteinemia 2 +1 more	GUncertain significance
Select item 91866	NM_014495.4(ANGPTL3):c.363_367del (p.Asn121fs)	ANGPTL3, DOCK7 (N121fs)	Microsatellite (frameshift variant +1 more)	Developmental and epileptic encephalopathy, 23 +2 more	GPathogenic
Select item 377251	NM_014495.4(ANGPTL3):c.379C>T (p.Leu127Phe)	ANGPTL3, DOCK7 (L127F)	Single nucleotide variant (missense variant +1 more)	not provided +1 more	GBenign/Likely benign
Select item 1212517	NM_014495.4(ANGPTL3):c.496-17_496-14del	ANGPTL3, DOCK7	Deletion (intron variant)	Developmental and epileptic encephalopathy, 23 +1 more	GBenign/Likely benign
Select item 775556	NM_001367561.1(DOCK7):c.1683-15199A>G	ANGPTL3, DOCK7 (M259T)	Single nucleotide variant (missense variant +1 more)	Developmental and epileptic encephalopathy, 23 +1 more	GBenign
Select item 1803867	NM_014495.4(ANGPTL3):c.995G>A (p.Arg332Gln)	ANGPTL3, DOCK7 (R332Q)	Single nucleotide variant (missense variant +1 more)	Familial hypobetalipoproteinemia 2 +2 more	GUncertain significance

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