| NM_001165963.4(SCN1A):c.5513C>G (p.Pro1838Arg) |
single nucleotide variant |
not specified [RCV000517280] |
Chr2:165991762 [GRCh38]
Chr2:166848272 [GRCh37]
Chr2:2q24.3 |
uncertain significance |
| NM_001165963.4(SCN1A):c.1329A>G (p.Glu443=) |
single nucleotide variant |
Early infantile epileptic encephalopathy with suppression bursts [RCV000530319]|not specified [RCV000517226] |
Chr2:166046818 [GRCh38]
Chr2:166903328 [GRCh37]
Chr2:2q24.3 |
likely benign|uncertain significance |
| NM_001165963.4(SCN1A):c.4787G>A (p.Arg1596His) |
single nucleotide variant |
Early infantile epileptic encephalopathy with suppression bursts [RCV000690853]|Severe myoclonic epilepsy in infancy [RCV002289705]|not provided [RCV000518137] |
Chr2:165994211 [GRCh38]
Chr2:166850721 [GRCh37]
Chr2:2q24.3 |
pathogenic|likely pathogenic|conflicting interpretations of pathogenicity|uncertain significance |
| NM_001165963.4(SCN1A):c.4918C>T (p.Leu1640Phe) |
single nucleotide variant |
Early infantile epileptic encephalopathy with suppression bursts [RCV002525078]|not specified [RCV000516237] |
Chr2:165992357 [GRCh38]
Chr2:166848867 [GRCh37]
Chr2:2q24.3 |
uncertain significance |
| NM_001165963.4(SCN1A):c.2360T>C (p.Met787Thr) |
single nucleotide variant |
not provided [RCV000520291] |
Chr2:166041286 [GRCh38]
Chr2:166897796 [GRCh37]
Chr2:2q24.3 |
likely pathogenic|conflicting interpretations of pathogenicity |
| NM_001165963.4(SCN1A):c.549dup (p.Thr184fs) |
duplication |
not provided [RCV000520541] |
Chr2:166054690..166054691 [GRCh38]
Chr2:166911200..166911201 [GRCh37]
Chr2:2q24.3 |
pathogenic |
| NM_001165963.4(SCN1A):c.938_941del (p.Asp313fs) |
deletion |
Early infantile epileptic encephalopathy with suppression bursts [RCV000527504] |
Chr2:166051742..166051745 [GRCh38]
Chr2:166908252..166908255 [GRCh37]
Chr2:2q24.3 |
pathogenic |
| NM_001165963.4(SCN1A):c.136G>A (p.Glu46Lys) |
single nucleotide variant |
Early infantile epileptic encephalopathy with suppression bursts [RCV000815244]|Generalized epilepsy with febrile seizures plus, type 2 [RCV001537936]|Migraine, familial hemiplegic, 3 [RCV000764288]|not provided [RCV000762059]|not specified [RCV000518289] |
Chr2:166073486 [GRCh38]
Chr2:166929996 [GRCh37]
Chr2:2q24.3 |
uncertain significance |
| NM_001165963.4(SCN1A):c.4952A>C (p.Lys1651Thr) |
single nucleotide variant |
Early infantile epileptic encephalopathy with suppression bursts [RCV003753130]|not provided [RCV000518407] |
Chr2:165992323 [GRCh38]
Chr2:166848833 [GRCh37]
Chr2:2q24.3 |
pathogenic|uncertain significance |
| NM_001165963.4(SCN1A):c.2255C>T (p.Pro752Leu) |
single nucleotide variant |
not provided [RCV000522312] |
Chr2:166041391 [GRCh38]
Chr2:166897901 [GRCh37]
Chr2:2q24.3 |
uncertain significance |
| NM_001165963.4(SCN1A):c.3195_3196del (p.Thr1066fs) |
deletion |
not provided [RCV000521603] |
Chr2:166036281..166036282 [GRCh38]
Chr2:166892791..166892792 [GRCh37]
Chr2:2q24.3 |
pathogenic |
| NM_001165963.4(SCN1A):c.4027G>T (p.Ala1343Ser) |
single nucleotide variant |
Early infantile epileptic encephalopathy with suppression bursts [RCV000545428]|not provided [RCV003236812] |
Chr2:166002729 [GRCh38]
Chr2:166859239 [GRCh37]
Chr2:2q24.3 |
likely pathogenic|uncertain significance |
| NM_001165963.4(SCN1A):c.559_602+6del |
deletion |
not provided [RCV000518333] |
Chr2:166054632..166054681 [GRCh38]
Chr2:166911142..166911191 [GRCh37]
Chr2:2q24.3 |
pathogenic |
| NM_001165963.4(SCN1A):c.2675A>G (p.Asn892Ser) |
single nucleotide variant |
Early infantile epileptic encephalopathy with suppression bursts [RCV001223477]|not specified [RCV000516647] |
Chr2:166038047 [GRCh38]
Chr2:166894557 [GRCh37]
Chr2:2q24.3 |
uncertain significance |
| NM_001165963.4(SCN1A):c.2261G>A (p.Trp754Ter) |
single nucleotide variant |
Early infantile epileptic encephalopathy with suppression bursts [RCV000550135] |
Chr2:166041385 [GRCh38]
Chr2:166897895 [GRCh37]
Chr2:2q24.3 |
pathogenic |
| NM_001165963.4(SCN1A):c.4954G>T (p.Gly1652Ter) |
single nucleotide variant |
not provided [RCV000518965] |
Chr2:165992321 [GRCh38]
Chr2:166848831 [GRCh37]
Chr2:2q24.3 |
likely pathogenic |
| NM_001165963.4(SCN1A):c.5809C>G (p.Gln1937Glu) |
single nucleotide variant |
Early infantile epileptic encephalopathy with suppression bursts [RCV001497480]|not provided [RCV000519145] |
Chr2:165991466 [GRCh38]
Chr2:166847976 [GRCh37]
Chr2:2q24.3 |
likely benign|conflicting interpretations of pathogenicity|uncertain significance |
| NM_001165963.4(SCN1A):c.1662+1G>A |
single nucleotide variant |
Early infantile epileptic encephalopathy with suppression bursts [RCV001036991]|not provided [RCV000521007] |
Chr2:166045042 [GRCh38]
Chr2:166901552 [GRCh37]
Chr2:2q24.3 |
pathogenic |
| NM_001165963.4(SCN1A):c.4339-1G>A |
single nucleotide variant |
Early infantile epileptic encephalopathy with suppression bursts [RCV000550750] |
Chr2:165998176 [GRCh38]
Chr2:166854686 [GRCh37]
Chr2:2q24.3 |
pathogenic |
| NM_001165963.4(SCN1A):c.56G>A (p.Arg19Lys) |
single nucleotide variant |
Early infantile epileptic encephalopathy with suppression bursts [RCV000544922] |
Chr2:166073566 [GRCh38]
Chr2:166930076 [GRCh37]
Chr2:2q24.3 |
uncertain significance |
| NM_001165963.4(SCN1A):c.2292T>C (p.Val764=) |
single nucleotide variant |
Early infantile epileptic encephalopathy with suppression bursts [RCV000860059]|Epilepsy [RCV000275349]|Generalized epilepsy with febrile seizures plus [RCV000030431]|Generalized epilepsy with febrile seizures plus, type 2 [RCV001129702]|Inborn genetic diseases [RCV002311527]|Migraine, familial hemiplegic, 3 [RCV000332804]|not provided [RCV001659733]|not specified [RCV000079565] |
Chr2:166041354 [GRCh38]
Chr2:166897864 [GRCh37]
Chr2:2q24.3 |
benign|conflicting interpretations of pathogenicity|conflicting data from submitters |
| NM_001165963.4(SCN1A):c.3199G>A (p.Ala1067Thr) |
single nucleotide variant |
Early infantile epileptic encephalopathy with suppression bursts [RCV000860058]|Epilepsy [RCV000401331]|Generalized epilepsy with febrile seizures plus [RCV000030432]|Generalized epilepsy with febrile seizures plus, type 2 [RCV001132319]|Inborn genetic diseases [RCV002311528]|Migraine, familial hemiplegic, 3 [RCV000338109]|not specified [RCV000079572] |
Chr2:166036278 [GRCh38]
Chr2:166892788 [GRCh37]
Chr2:2q24.3 |
benign|conflicting interpretations of pathogenicity|conflicting data from submitters |
| NM_001165963.4(SCN1A):c.4706T>C (p.Val1569Ala) |
single nucleotide variant |
not provided [RCV001564141] |
Chr2:165994292 [GRCh38]
Chr2:166850802 [GRCh37]
Chr2:2q24.3 |
uncertain significance |
| NM_001165963.4(SCN1A):c.4943G>A (p.Arg1648His) |
single nucleotide variant |
Autosomal dominant epilepsy [RCV001192959]|Early infantile epileptic encephalopathy with suppression bursts [RCV001040793]|Generalized epilepsy with febrile seizures plus, type 2 [RCV000013742]|Severe myoclonic epilepsy in infancy [RCV000059521]|not provided [RCV000484119] |
Chr2:165992332 [GRCh38]
Chr2:166848842 [GRCh37]
Chr2:2q24.3 |
pathogenic|not provided |
| NM_001165963.4(SCN1A):c.2624C>T (p.Thr875Met) |
single nucleotide variant |
Early infantile epileptic encephalopathy with suppression bursts [RCV000686817]|Generalized epilepsy with febrile seizures plus, type 1 [RCV000059471]|Generalized epilepsy with febrile seizures plus, type 2 [RCV000013743]|Inborn genetic diseases [RCV002316193]|Severe myoclonic epilepsy in infancy [RCV001253103]|not provided [RCV001311218] |
Chr2:166038098 [GRCh38]
Chr2:166894608 [GRCh37]
Chr2:2q24.3 |
pathogenic|likely pathogenic|not provided |
| NM_001165963.4(SCN1A):c.563A>T (p.Asp188Val) |
single nucleotide variant |
Early infantile epileptic encephalopathy with suppression bursts [RCV000636336]|Generalized epilepsy with febrile seizures plus, type 1 [RCV000059448]|Generalized epilepsy with febrile seizures plus, type 2 [RCV000013744] |
Chr2:166054677 [GRCh38]
Chr2:166911187 [GRCh37]
Chr2:2q24.3 |
pathogenic|likely pathogenic|not provided |
| NM_001165963.4(SCN1A):c.4057G>C (p.Val1353Leu) |
single nucleotide variant |
Generalized epilepsy with febrile seizures plus, type 1 [RCV000059409]|Generalized epilepsy with febrile seizures plus, type 2 [RCV000013745] |
Chr2:166002699 [GRCh38]
Chr2:166859209 [GRCh37]
Chr2:2q24.3 |
pathogenic|not provided |
| NM_001165963.4(SCN1A):c.4968C>G (p.Ile1656Met) |
single nucleotide variant |
Early infantile epileptic encephalopathy with suppression bursts [RCV001385324]|Generalized epilepsy with febrile seizures plus, type 1 [RCV000059433]|Generalized epilepsy with febrile seizures plus, type 2 [RCV000013746] |
Chr2:165992307 [GRCh38]
Chr2:166848817 [GRCh37]
Chr2:2q24.3 |
pathogenic|not provided |
| NM_001165963.4(SCN1A):c.3610T>C (p.Trp1204Arg) |
single nucleotide variant |
Generalized epilepsy with febrile seizures plus, type 1 [RCV000059402]|Generalized epilepsy with febrile seizures plus, type 2 [RCV000013747]|not provided [RCV001091670] |
Chr2:166013839 [GRCh38]
Chr2:166870349 [GRCh37]
Chr2:2q24.3 |
pathogenic|not provided |
| NM_001165963.4(SCN1A):c.3809A>C (p.Lys1270Thr) |
single nucleotide variant |
Early infantile epileptic encephalopathy with suppression bursts [RCV002513023]|Generalized epilepsy with febrile seizures plus, type 1 [RCV000059501]|Generalized epilepsy with febrile seizures plus, type 2 [RCV000013751] |
Chr2:166012179 [GRCh38]
Chr2:166868689 [GRCh37]
Chr2:2q24.3 |
pathogenic|not provided |
| NM_001165963.4(SCN1A):c.4283T>C (p.Val1428Ala) |
single nucleotide variant |
Generalized epilepsy with febrile seizures plus, type 1 [RCV000059508]|Generalized epilepsy with febrile seizures plus, type 2 [RCV000013752] |
Chr2:166002473 [GRCh38]
Chr2:166858983 [GRCh37]
Chr2:2q24.3 |
pathogenic|not provided |
| NM_001165963.4(SCN1A):c.5126C>T (p.Thr1709Ile) |
single nucleotide variant |
Early infantile epileptic encephalopathy with suppression bursts [RCV001296128]|Generalized epilepsy with febrile seizures plus, type 2 [RCV000013755]|Severe myoclonic epilepsy in infancy [RCV000013754] |
Chr2:165992149 [GRCh38]
Chr2:166848659 [GRCh37]
Chr2:2q24.3 |
pathogenic|likely pathogenic|uncertain significance |
| NM_001165963.4(SCN1A):c.4831G>T (p.Val1611Phe) |
single nucleotide variant |
Generalized epilepsy with febrile seizures plus, type 2 [RCV000013757]|Severe myoclonic epilepsy in infancy [RCV000013756] |
Chr2:165994167 [GRCh38]
Chr2:166850677 [GRCh37]
Chr2:2q24.3 |
pathogenic |
| NM_001165963.4(SCN1A):c.603-91G>A |
single nucleotide variant |
Early infantile epileptic encephalopathy with suppression bursts [RCV001510181]|Febrile seizures, familial, 3a [RCV000013759]|carbamazepine response - Dosage [RCV000211149] |
Chr2:166053034 [GRCh38]
Chr2:166909544 [GRCh37]
Chr2:2q24.3 |
risk factor|benign|drug response |
| NM_001165963.4(SCN1A):c.2528del (p.Ser843fs) |
deletion |
Generalized epilepsy with febrile seizures plus, type 2 [RCV000013761] |
Chr2:166039484 [GRCh38]
Chr2:166895994 [GRCh37]
Chr2:2q24.3 |
pathogenic |
| NM_001165963.4(SCN1A):c.2474A>C (p.Tyr825Ser) |
single nucleotide variant |
Early infantile epileptic encephalopathy with suppression bursts [RCV003753183]|not provided [RCV001571347] |
Chr2:166039538 [GRCh38]
Chr2:166896048 [GRCh37]
Chr2:2q24.3 |
uncertain significance |
| NM_006920.6(SCN1A):c.2588_3170del (p.Pro863fs) |
deletion |
Generalized epilepsy with febrile seizures plus, type 2 [RCV000735225] |
Chr2:166036274..166038101 [GRCh38]
Chr2:166892784..166894611 [GRCh37]
Chr2:2q24.3 |
pathogenic |
| NM_001165963.4(SCN1A):c.3553T>C (p.Cys1185Arg) |
single nucleotide variant |
not provided [RCV000519173] |
Chr2:166013896 [GRCh38]
Chr2:166870406 [GRCh37]
Chr2:2q24.3 |
likely pathogenic |
| NM_001165963.4(SCN1A):c.1092C>A (p.Ser364Arg) |
single nucleotide variant |
not provided [RCV000728727] |
Chr2:166047705 [GRCh38]
Chr2:166904215 [GRCh37]
Chr2:2q24.3 |
uncertain significance |
| NM_001165963.4(SCN1A):c.2651_2656del (p.Gly884_Ser886delinsAla) |
deletion |
Early infantile epileptic encephalopathy with suppression bursts [RCV000546949] |
Chr2:166038066..166038071 [GRCh38]
Chr2:166894576..166894581 [GRCh37]
Chr2:2q24.3 |
uncertain significance |
| NM_001165963.4(SCN1A):c.5963G>A (p.Arg1988Gln) |
single nucleotide variant |
Early infantile epileptic encephalopathy with suppression bursts [RCV001340972]|not provided [RCV000518972] |
Chr2:165991312 [GRCh38]
Chr2:166847822 [GRCh37]
Chr2:2q24.3 |
likely benign|conflicting interpretations of pathogenicity|uncertain significance |
| NM_001165963.4(SCN1A):c.413T>G (p.Ile138Ser) |
single nucleotide variant |
Early infantile epileptic encephalopathy with suppression bursts [RCV001361272]|not provided [RCV000519392] |
Chr2:166056471 [GRCh38]
Chr2:166912981 [GRCh37]
Chr2:2q24.3 |
pathogenic|likely pathogenic|uncertain significance |
| NM_001165963.4(SCN1A):c.2415+3_2415+24del |
deletion |
Early infantile epileptic encephalopathy with suppression bursts [RCV000527054] |
Chr2:166041207..166041228 [GRCh38]
Chr2:166897717..166897738 [GRCh37]
Chr2:2q24.3 |
uncertain significance |
| NM_001165963.4(SCN1A):c.1082G>A (p.Gly361Asp) |
single nucleotide variant |
Early infantile epileptic encephalopathy with suppression bursts [RCV003588643]|not specified [RCV000516466] |
Chr2:166047715 [GRCh38]
Chr2:166904225 [GRCh37]
Chr2:2q24.3 |
likely pathogenic|uncertain significance |
| NM_001165963.4(SCN1A):c.2665G>A (p.Ala889Thr) |
single nucleotide variant |
Early infantile epileptic encephalopathy with suppression bursts [RCV000559503]|Severe myoclonic epilepsy in infancy [RCV001253601]|not provided [RCV001696832] |
Chr2:166038057 [GRCh38]
Chr2:166894567 [GRCh37]
Chr2:2q24.3 |
pathogenic|likely pathogenic|uncertain significance |
| NM_001165963.4(SCN1A):c.2669T>C (p.Leu890Pro) |
single nucleotide variant |
Early infantile epileptic encephalopathy with suppression bursts [RCV000530855] |
Chr2:166038053 [GRCh38]
Chr2:166894563 [GRCh37]
Chr2:2q24.3 |
pathogenic|uncertain significance |
| NM_001165963.4(SCN1A):c.4002+6A>G |
single nucleotide variant |
not specified [RCV000516847] |
Chr2:166009713 [GRCh38]
Chr2:166866223 [GRCh37]
Chr2:2q24.3 |
uncertain significance |
| NM_001165963.4(SCN1A):c.5164A>G (p.Thr1722Ala) |
single nucleotide variant |
not provided [RCV000522920] |
Chr2:165992111 [GRCh38]
Chr2:166848621 [GRCh37]
Chr2:2q24.3 |
likely pathogenic |
| NM_001165963.4(SCN1A):c.5855_5857del (p.Asn1952_Leu1953delinsIle) |
deletion |
Early infantile epileptic encephalopathy with suppression bursts [RCV002525199]|not provided [RCV000523033] |
Chr2:165991418..165991420 [GRCh38]
Chr2:166847928..166847930 [GRCh37]
Chr2:2q24.3 |
uncertain significance |
| NM_001165963.4(SCN1A):c.2415+4A>G |
single nucleotide variant |
not provided [RCV000523162] |
Chr2:166041227 [GRCh38]
Chr2:166897737 [GRCh37]
Chr2:2q24.3 |
uncertain significance |
| NM_001165963.4(SCN1A):c.5299del (p.Val1767fs) |
deletion |
not provided [RCV000521395] |
Chr2:165991976 [GRCh38]
Chr2:166848486 [GRCh37]
Chr2:2q24.3 |
likely pathogenic |
| NM_001165963.4(SCN1A):c.2946+4T>C |
single nucleotide variant |
Early infantile epileptic encephalopathy with suppression bursts [RCV002525077]|not provided [RCV001569815]|not specified [RCV000517765] |
Chr2:166037772 [GRCh38]
Chr2:166894282 [GRCh37]
Chr2:2q24.3 |
likely benign|uncertain significance |
| NM_001165963.4(SCN1A):c.2947G>A (p.Val983Ile) |
single nucleotide variant |
Early infantile epileptic encephalopathy with suppression bursts [RCV000548719] |
Chr2:166036530 [GRCh38]
Chr2:166893040 [GRCh37]
Chr2:2q24.3 |
pathogenic|uncertain significance |
| NM_001165963.4(SCN1A):c.1910C>T (p.Ala637Val) |
single nucleotide variant |
Early infantile epileptic encephalopathy with suppression bursts [RCV000526352]|not provided [RCV001702501] |
Chr2:166043802 [GRCh38]
Chr2:166900312 [GRCh37]
Chr2:2q24.3 |
likely benign|uncertain significance |
| NM_001165963.4(SCN1A):c.1586T>C (p.Ile529Thr) |
single nucleotide variant |
Early infantile epileptic encephalopathy with suppression bursts [RCV002528247]|not provided [RCV000520137] |
Chr2:166045119 [GRCh38]
Chr2:166901629 [GRCh37]
Chr2:2q24.3 |
uncertain significance |
| NM_001165963.4(SCN1A):c.5006C>A (p.Ala1669Glu) |
single nucleotide variant |
Early infantile epileptic encephalopathy with suppression bursts [RCV001379443]|Severe myoclonic epilepsy in infancy [RCV000022764] |
Chr2:165992269 [GRCh38]
Chr2:166848779 [GRCh37]
Chr2:2q24.3 |
pathogenic|likely pathogenic |
| NM_001165963.4(SCN1A):c.4465C>A (p.Gln1489Lys) |
single nucleotide variant |
Migraine, familial hemiplegic, 3 [RCV000013753] |
Chr2:165998049 [GRCh38]
Chr2:166854559 [GRCh37]
Chr2:2q24.3 |
pathogenic |
| NM_001165963.4(SCN1A):c.434T>C (p.Met145Thr) |
single nucleotide variant |
Febrile seizures, familial, 3a [RCV000993711]|Generalized epilepsy with febrile seizures plus, type 2 [RCV000013758]|Migraine, familial hemiplegic, 3 [RCV003595856]|not provided [RCV000255880] |
Chr2:166056450 [GRCh38]
Chr2:166912960 [GRCh37]
Chr2:2q24.3 |
pathogenic|not provided |
| NM_001165963.4(SCN1A):c.4495T>C (p.Phe1499Leu) |
single nucleotide variant |
Early infantile epileptic encephalopathy with suppression bursts [RCV001857344]|Migraine, familial hemiplegic, 3 [RCV000013765]|not provided [RCV001090363] |
Chr2:165996099 [GRCh38]
Chr2:166852609 [GRCh37]
Chr2:2q24.3 |
pathogenic |
| NM_001165963.4(SCN1A):c.4467G>C (p.Gln1489His) |
single nucleotide variant |
Migraine, familial hemiplegic, 3 [RCV000013766] |
Chr2:165998047 [GRCh38]
Chr2:166854557 [GRCh37]
Chr2:2q24.3 |
pathogenic |
| NM_006920.4(SCN1A):c.4251+1337G>T |
single nucleotide variant |
Lung cancer [RCV000091636] |
Chr2:166001135 [GRCh38]
Chr2:166857645 [GRCh37]
Chr2:2q24.3 |
uncertain significance |
| NM_006920.4(SCN1A):c.-684A>C |
single nucleotide variant |
Lung cancer [RCV000091637] |
Chr2:166074305 [GRCh38]
Chr2:166930815 [GRCh37]
Chr2:2q24.3 |
uncertain significance |
| NM_001165963.4(SCN1A):c.2584C>G (p.Arg862Gly) |
single nucleotide variant |
Severe myoclonic epilepsy in infancy [RCV000022765] |
Chr2:166039428 [GRCh38]
Chr2:166895938 [GRCh37]
Chr2:2q24.3 |
pathogenic |
| NM_001165963.4(SCN1A):c.1212A>G (p.Val404=) |
single nucleotide variant |
Early infantile epileptic encephalopathy with suppression bursts [RCV000860060]|Epilepsy [RCV000384881]|Generalized epilepsy with febrile seizures plus, type 2 [RCV001134811]|Inborn genetic diseases [RCV002311526]|Migraine, familial hemiplegic, 3 [RCV000290590]|Migraine, familial hemiplegic, 3 [RCV000576652]|Severe myoclonic epilepsy in infancy [RCV000030430]|not provided [RCV001610301]|not specified [RCV000079554] |
Chr2:166046935 [GRCh38]
Chr2:166903445 [GRCh37]
Chr2:2q24.3 |
benign|conflicting interpretations of pathogenicity|conflicting data from submitters |
| NM_001165963.4(SCN1A):c.3723T>C (p.Tyr1241=) |
single nucleotide variant |
Early infantile epileptic encephalopathy with suppression bursts [RCV000468137]|Epilepsy [RCV000384236]|Generalized epilepsy with febrile seizures plus, type 2 [RCV001134604]|Inborn genetic diseases [RCV002311529]|Migraine, familial hemiplegic, 3 [RCV000292163]|Migraine, familial hemiplegic, 3 [RCV000576354]|Severe myoclonic epilepsy in infancy [RCV000030433]|not provided [RCV001794463]|not specified [RCV000079576] |
Chr2:166012265 [GRCh38]
Chr2:166868775 [GRCh37]
Chr2:2q24.3 |
benign|likely benign |
| NM_001165963.4(SCN1A):c.657_658del (p.Arg219fs) |
microsatellite |
Severe myoclonic epilepsy in infancy [RCV000032603] |
Chr2:166052888..166052889 [GRCh38]
Chr2:166909398..166909399 [GRCh37]
Chr2:2q24.3 |
pathogenic |
| NM_001165963.4(SCN1A):c.664C>T (p.Arg222Ter) |
single nucleotide variant |
Early infantile epileptic encephalopathy with suppression bursts [RCV001037392]|Generalized epilepsy with febrile seizures plus, type 2 [RCV003388823]|Inborn genetic diseases [RCV002316194]|Intellectual disability [RCV001257707]|Migraine, familial hemiplegic, 3 [RCV000763461]|Severe myoclonic epilepsy in infancy [RCV000032604]|not provided [RCV000188841] |
Chr2:166052882 [GRCh38]
Chr2:166909392 [GRCh37]
Chr2:2q24.3 |
pathogenic|likely pathogenic|conflicting interpretations of pathogenicity |
| NC_000002.12:g.(?_165985812)_(166002754_166009718)del |
deletion |
Severe myoclonic epilepsy in infancy [RCV000032607] |
Chr2:165985812..166002754 [GRCh38]
Chr2:2q24.3 |
pathogenic |
| NM_001165963.4(SCN1A):c.4002+1195_4284+346delinsTATT |
indel |
Severe myoclonic epilepsy in infancy [RCV000032608] |
Chr2:166002126..166008524 [GRCh38]
Chr2:166858636..166865034 [GRCh37]
Chr2:2q24.3 |
pathogenic |
| NM_001165963.4(SCN1A):c.3609del (p.Gln1203fs) |
deletion |
Severe myoclonic epilepsy in infancy [RCV000032609] |
Chr2:166013840 [GRCh38]
Chr2:166870350 [GRCh37]
Chr2:2q24.3 |
pathogenic |
| NM_001165963.4(SCN1A):c.2956C>T (p.Leu986Phe) |
single nucleotide variant |
Early infantile epileptic encephalopathy with suppression bursts [RCV000794577]|Severe myoclonic epilepsy in infancy [RCV000032605] |
Chr2:166036521 [GRCh38]
Chr2:166893031 [GRCh37]
Chr2:2q24.3 |
pathogenic |
| GRCh38/hg38 2q24.3-31.1(chr2:164850117-175559190)x1 |
copy number loss |
See cases [RCV000051201] |
Chr2:164850117..175559190 [GRCh38]
Chr2:165706627..176423918 [GRCh37]
Chr2:165414873..176132164 [NCBI36]
Chr2:2q24.3-31.1 |
pathogenic |
| GRCh38/hg38 2q24.1-24.3(chr2:158382388-166605758)x1 |
copy number loss |
See cases [RCV000051003] |
Chr2:158382388..166605758 [GRCh38]
Chr2:159238900..167462268 [GRCh37]
Chr2:158947146..167170514 [NCBI36]
Chr2:2q24.1-24.3 |
pathogenic |
| GRCh38/hg38 2q24.3(chr2:165542962-166152073)x3 |
copy number gain |
See cases [RCV000052698] |
Chr2:165542962..166152073 [GRCh38]
Chr2:166399472..167008583 [GRCh37]
Chr2:166107718..166716829 [NCBI36]
Chr2:2q24.3 |
uncertain significance |
| GRCh38/hg38 2q24.3(chr2:165888312-166443535)x3 |
copy number gain |
Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052699]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052699]|See cases [RCV000052699] |
Chr2:165888312..166443535 [GRCh38]
Chr2:166744822..167300045 [GRCh37]
Chr2:166453068..167008291 [NCBI36]
Chr2:2q24.3 |
uncertain significance |
| GRCh38/hg38 2q24.1-24.3(chr2:154366788-167048902)x3 |
copy number gain |
See cases [RCV000052950] |
Chr2:154366788..167048902 [GRCh38]
Chr2:155223300..167905412 [GRCh37]
Chr2:154931546..167613658 [NCBI36]
Chr2:2q24.1-24.3 |
pathogenic |
| GRCh38/hg38 2q24.3(chr2:163455290-166962322)x1 |
copy number loss |
See cases [RCV000054119] |
Chr2:163455290..166962322 [GRCh38]
Chr2:164311800..167818832 [GRCh37]
Chr2:164020046..167527078 [NCBI36]
Chr2:2q24.3 |
pathogenic |
| GRCh38/hg38 2q24.3-32.1(chr2:163965382-182195062)x1 |
copy number loss |
See cases [RCV000054122] |
Chr2:163965382..182195062 [GRCh38]
Chr2:164821892..183059789 [GRCh37]
Chr2:164530138..182768034 [NCBI36]
Chr2:2q24.3-32.1 |
pathogenic |
| GRCh38/hg38 2q24.3-31.1(chr2:164066038-172097886)x1 |
copy number loss |
See cases [RCV000054123] |
Chr2:164066038..172097886 [GRCh38]
Chr2:164922548..172962614 [GRCh37]
Chr2:164630794..172670860 [NCBI36]
Chr2:2q24.3-31.1 |
pathogenic |
| GRCh38/hg38 2q24.3-31.1(chr2:165209651-169567892)x1 |
copy number loss |
Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000054124]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000054124]|See cases [RCV000054124] |
Chr2:165209651..169567892 [GRCh38]
Chr2:166066161..170424402 [GRCh37]
Chr2:165774407..170132648 [NCBI36]
Chr2:2q24.3-31.1 |
pathogenic |
| GRCh38/hg38 2q24.3(chr2:166044436-166079787)x1 |
copy number loss |
See cases [RCV000054125] |
Chr2:166044436..166079787 [GRCh38]
Chr2:166900946..166936297 [GRCh37]
Chr2:166609192..166644543 [NCBI36]
Chr2:2q24.3 |
pathogenic |
| GRCh38/hg38 2q24.3(chr2:166136991-166692021)x1 |
copy number loss |
Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053811]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053811]|See cases [RCV000053811] |
Chr2:166136991..166692021 [GRCh38]
Chr2:166993501..167548531 [GRCh37]
Chr2:166701747..167256777 [NCBI36]
Chr2:2q24.3 |
uncertain significance |
| NM_001165963.4(SCN1A):c.1066A>G (p.Arg356Gly) |
single nucleotide variant |
Anterior creases of earlobe [RCV001257271]|Severe myoclonic epilepsy in infancy [RCV000059371]|not provided [RCV001753478] |
Chr2:166047731 [GRCh38]
Chr2:166904241 [GRCh37]
Chr2:2q24.3 |
uncertain significance|not provided |
| NM_001165963.4(SCN1A):c.1072C>A (p.Pro358Thr) |
single nucleotide variant |
Severe myoclonic epilepsy in infancy [RCV000059372]|not provided [RCV000997285] |
Chr2:166047725 [GRCh38]
Chr2:166904235 [GRCh37]
Chr2:2q24.3 |
likely pathogenic|not provided |
| NM_001165963.4(SCN1A):c.1098T>A (p.Asp366Glu) |
single nucleotide variant |
Severe myoclonic epilepsy in infancy [RCV000059373] |
Chr2:166047699 [GRCh38]
Chr2:166904209 [GRCh37]
Chr2:2q24.3 |
not provided |
| NM_001165963.4(SCN1A):c.1130G>A (p.Arg377Gln) |
single nucleotide variant |
Early infantile epileptic encephalopathy with suppression bursts [RCV001226020]|Generalized epilepsy with febrile seizures plus, type 1 [RCV000059374]|Generalized epilepsy with febrile seizures plus, type 2 [RCV001775078]|Severe myoclonic epilepsy in infancy [RCV000180936]|not provided [RCV000188861] |
Chr2:166047667 [GRCh38]
Chr2:166904177 [GRCh37]
Chr2:2q24.3 |
pathogenic|likely pathogenic|uncertain significance|not provided |
| NM_001165963.4(SCN1A):c.1149C>G (p.Phe383Leu) |
single nucleotide variant |
Severe myoclonic epilepsy in infancy [RCV000059375] |
Chr2:166047648 [GRCh38]
Chr2:166904158 [GRCh37]
Chr2:2q24.3 |
not provided |
| NM_001165963.4(SCN1A):c.1177C>A (p.Arg393Ser) |
single nucleotide variant |
Early infantile epileptic encephalopathy with suppression bursts [RCV001036662]|Severe myoclonic epilepsy in infancy [RCV000059376] |
Chr2:166046970 [GRCh38]
Chr2:166903480 [GRCh37]
Chr2:2q24.3 |
pathogenic|not provided |
| NM_001165963.4(SCN1A):c.1177C>T (p.Arg393Cys) |
single nucleotide variant |
Early infantile epileptic encephalopathy with suppression bursts [RCV000554304]|Migraine, familial hemiplegic, 3 [RCV002262611]|Seizure [RCV000857236]|Severe myoclonic epilepsy in infancy [RCV000059377]|not provided [RCV000188854] |
Chr2:166046970 [GRCh38]
Chr2:166903480 [GRCh37]
Chr2:2q24.3 |
pathogenic|not provided |
| NM_001165963.4(SCN1A):c.1178G>A (p.Arg393His) |
single nucleotide variant |
Early infantile epileptic encephalopathy with suppression bursts [RCV000636386]|Migraine, familial hemiplegic, 3 [RCV001198232]|Severe myoclonic epilepsy in infancy [RCV000059378]|not provided [RCV000188863] |
Chr2:166046969 [GRCh38]
Chr2:166903479 [GRCh37]
Chr2:2q24.3 |
pathogenic|likely pathogenic|not provided |
| NM_001165963.4(SCN1A):c.1183G>C (p.Ala395Pro) |
single nucleotide variant |
Generalized epilepsy [RCV000059379] |
Chr2:166046964 [GRCh38]
Chr2:166903474 [GRCh37]
Chr2:2q24.3 |
not provided |
| NM_001165963.4(SCN1A):c.1207T>C (p.Phe403Leu) |
single nucleotide variant |
Early infantile epileptic encephalopathy with suppression bursts [RCV002514305]|Inborn genetic diseases [RCV002345371]|Severe myoclonic epilepsy in infancy [RCV000059380] |
Chr2:166046940 [GRCh38]
Chr2:166903450 [GRCh37]
Chr2:2q24.3 |
pathogenic|likely pathogenic|not provided |
| NM_001165963.4(SCN1A):c.1237T>A (p.Tyr413Asn) |
single nucleotide variant |
Severe myoclonic epilepsy in infancy [RCV000059381] |
Chr2:166046910 [GRCh38]
Chr2:166903420 [GRCh37]
Chr2:2q24.3 |
pathogenic|not provided |
| NM_001165963.4(SCN1A):c.1265T>A (p.Val422Glu) |
single nucleotide variant |
Generalized epilepsy [RCV000059382] |
Chr2:166046882 [GRCh38]
Chr2:166903392 [GRCh37]
Chr2:2q24.3 |
not provided |
| NM_001165963.4(SCN1A):c.1276T>A (p.Tyr426Asn) |
single nucleotide variant |
Severe myoclonic epilepsy in infancy [RCV000059383] |
Chr2:166046871 [GRCh38]
Chr2:166903381 [GRCh37]
Chr2:2q24.3 |
not provided |
| NM_001165963.4(SCN1A):c.1876A>G (p.Ser626Gly) |
single nucleotide variant |
Generalized epilepsy [RCV000059384]|Severe myoclonic epilepsy in infancy [RCV000180909] |
Chr2:166043836 [GRCh38]
Chr2:166900346 [GRCh37]
Chr2:2q24.3 |
pathogenic|not provided |
| NM_001165963.4(SCN1A):c.187T>C (p.Phe63Leu) |
single nucleotide variant |
Severe myoclonic epilepsy in infancy [RCV000059385] |
Chr2:166073435 [GRCh38]
Chr2:166929945 [GRCh37]
Chr2:2q24.3 |
not provided |
| NM_001165963.4(SCN1A):c.220T>C (p.Ser74Pro) |
single nucleotide variant |
Generalized epilepsy with febrile seizures plus, type 1 [RCV000059386] |
Chr2:166073402 [GRCh38]
Chr2:166929912 [GRCh37]
Chr2:2q24.3 |
not provided |
| NM_001165963.4(SCN1A):c.2348T>C (p.Leu783Pro) |
single nucleotide variant |
Severe myoclonic epilepsy in infancy [RCV000059387] |
Chr2:166041298 [GRCh38]
Chr2:166897808 [GRCh37]
Chr2:2q24.3 |
not provided |
| NM_001165963.4(SCN1A):c.234G>T (p.Glu78Asp) |
single nucleotide variant |
Severe myoclonic epilepsy in infancy [RCV000059388] |
Chr2:166073388 [GRCh38]
Chr2:166929898 [GRCh37]
Chr2:2q24.3 |
not provided |
| NM_001165963.4(SCN1A):c.235G>C (p.Asp79His) |
single nucleotide variant |
Severe myoclonic epilepsy in infancy [RCV000059389] |
Chr2:166073387 [GRCh38]
Chr2:166929897 [GRCh37]
Chr2:2q24.3 |
not provided |
| NM_001165963.4(SCN1A):c.2435C>G (p.Thr812Arg) |
single nucleotide variant |
Early infantile epileptic encephalopathy with suppression bursts [RCV002513779]|Severe myoclonic epilepsy in infancy [RCV000059390] |
Chr2:166039577 [GRCh38]
Chr2:166896087 [GRCh37]
Chr2:2q24.3 |
pathogenic|not provided |
| NM_001165963.4(SCN1A):c.2536G>A (p.Glu846Lys) |
single nucleotide variant |
Severe myoclonic epilepsy in infancy [RCV000059391] |
Chr2:166039476 [GRCh38]
Chr2:166895986 [GRCh37]
Chr2:2q24.3 |
not provided |
| NM_001165963.4(SCN1A):c.251A>G (p.Tyr84Cys) |
single nucleotide variant |
Early infantile epileptic encephalopathy with suppression bursts [RCV000695650]|Migraine, familial hemiplegic, 3 [RCV000763463]|Severe myoclonic epilepsy in infancy [RCV000059392]|not provided [RCV000255485] |
Chr2:166073371 [GRCh38]
Chr2:166929881 [GRCh37]
Chr2:2q24.3 |
pathogenic|likely pathogenic|not provided |
| NM_001165963.4(SCN1A):c.2825T>C (p.Leu942Pro) |
single nucleotide variant |
Severe myoclonic epilepsy in infancy [RCV000059393] |
Chr2:166037897 [GRCh38]
Chr2:166894407 [GRCh37]
Chr2:2q24.3 |
not provided |
| NM_001165963.4(SCN1A):c.2833T>C (p.Phe945Leu) |
single nucleotide variant |
Severe myoclonic epilepsy in infancy [RCV000059394] |
Chr2:166037889 [GRCh38]
Chr2:166894399 [GRCh37]
Chr2:2q24.3 |
not provided |
| NM_001165963.4(SCN1A):c.2837G>A (p.Arg946His) |
single nucleotide variant |
Early infantile epileptic encephalopathy with suppression bursts [RCV000543457]|Generalized epilepsy with febrile seizures plus, type 2 [RCV001004709]|Inborn genetic diseases [RCV002433566]|Seizure [RCV001264404]|Severe myoclonic epilepsy in infancy [RCV000059395]|not provided [RCV000378734] |
Chr2:166037885 [GRCh38]
Chr2:166894395 [GRCh37]
Chr2:2q24.3 |
pathogenic|likely pathogenic|not provided |
| NM_001165963.4(SCN1A):c.2849G>A (p.Gly950Glu) |
single nucleotide variant |
Severe myoclonic epilepsy in infancy [RCV000059396]|not provided [RCV000429753] |
Chr2:166037873 [GRCh38]
Chr2:166894383 [GRCh37]
Chr2:2q24.3 |
pathogenic|not provided |
| NM_001165963.4(SCN1A):c.2870G>T (p.Trp957Leu) |
single nucleotide variant |
Severe myoclonic epilepsy in infancy [RCV000059397] |
Chr2:166037852 [GRCh38]
Chr2:166894362 [GRCh37]
Chr2:2q24.3 |
not provided |
| NM_001165963.4(SCN1A):c.2917A>G (p.Met973Val) |
single nucleotide variant |
Early infantile epileptic encephalopathy with suppression bursts [RCV001296130]|Generalized epilepsy [RCV000059398] |
Chr2:166037805 [GRCh38]
Chr2:166894315 [GRCh37]
Chr2:2q24.3 |
uncertain significance|not provided |
| NM_001165963.4(SCN1A):c.301C>T (p.Arg101Trp) |
single nucleotide variant |
Early infantile epileptic encephalopathy with suppression bursts [RCV000541714]|Migraine, familial hemiplegic, 3 [RCV001199316]|Severe myoclonic epilepsy in infancy [RCV000059399]|not provided [RCV000357692] |
Chr2:166058652 [GRCh38]
Chr2:166915162 [GRCh37]
Chr2:2q24.3 |
pathogenic|likely pathogenic|not provided |
| NM_001165963.4(SCN1A):c.302G>A (p.Arg101Gln) |
single nucleotide variant |
Early infantile epileptic encephalopathy with suppression bursts [RCV000550639]|Migraine, familial hemiplegic, 3 [RCV001197275]|Severe myoclonic epilepsy in infancy [RCV000059400]|not provided [RCV000188829] |
Chr2:166058651 [GRCh38]
Chr2:166915161 [GRCh37]
Chr2:2q24.3 |
pathogenic|not provided |
| NM_001165963.4(SCN1A):c.354G>C (p.Arg118Ser) |
single nucleotide variant |
Severe myoclonic epilepsy in infancy [RCV000059401] |
Chr2:166058599 [GRCh38]
Chr2:166915109 [GRCh37]
Chr2:2q24.3 |
not provided |
| NM_001165963.4(SCN1A):c.3620T>C (p.Leu1207Pro) |
single nucleotide variant |
Early infantile epileptic encephalopathy with suppression bursts [RCV000818870]|Severe myoclonic epilepsy in infancy [RCV000059403]|not provided [RCV002054912] |
Chr2:166013829 [GRCh38]
Chr2:166870339 [GRCh37]
Chr2:2q24.3 |
likely pathogenic|uncertain significance|not provided |
| NM_001165963.4(SCN1A):c.3697G>C (p.Gly1233Arg) |
single nucleotide variant |
Early infantile epileptic encephalopathy with suppression bursts [RCV001344646]|Severe myoclonic epilepsy in infancy [RCV000059404] |
Chr2:166013752 [GRCh38]
Chr2:166870262 [GRCh37]
Chr2:2q24.3 |
pathogenic|uncertain significance|not provided |
| NM_001165963.4(SCN1A):c.3714A>C (p.Glu1238Asp) |
single nucleotide variant |
Early infantile epileptic encephalopathy with suppression bursts [RCV001476333]|Severe myoclonic epilepsy in infancy [RCV000059405]|Severe myoclonic epilepsy in infancy [RCV001836728]|not provided [RCV000723903] |
Chr2:166012274 [GRCh38]
Chr2:166868784 [GRCh37]
Chr2:2q24.3 |
likely benign|conflicting interpretations of pathogenicity|uncertain significance|not provided |
| NM_001165963.4(SCN1A):c.3734G>A (p.Arg1245Gln) |
single nucleotide variant |
Early infantile epileptic encephalopathy with suppression bursts [RCV000636387]|Generalized epilepsy with febrile seizures plus, type 2 [RCV001836729]|Severe myoclonic epilepsy in infancy [RCV000059406]|not provided [RCV000188926] |
Chr2:166012254 [GRCh38]
Chr2:166868764 [GRCh37]
Chr2:2q24.3 |
pathogenic|likely pathogenic|not provided |
| NM_001165963.4(SCN1A):c.3924A>T (p.Glu1308Asp) |
single nucleotide variant |
Early infantile epileptic encephalopathy with suppression bursts [RCV001080063]|Generalized epilepsy with febrile seizures plus, type 2 [RCV001133132]|Inborn genetic diseases [RCV002313742]|Migraine, familial hemiplegic, 3 [RCV001133131]|SCN1A-related condition [RCV003964916]|Severe myoclonic epilepsy in infancy [RCV000059407]|not provided [RCV000118242]|not specified [RCV000188828] |
Chr2:166009797 [GRCh38]
Chr2:166866307 [GRCh37]
Chr2:2q24.3 |
benign|likely benign|conflicting interpretations of pathogenicity|uncertain significance|not provided |
| NM_001165963.4(SCN1A):c.4003G>A (p.Val1335Met) |
single nucleotide variant |
Early infantile epileptic encephalopathy with suppression bursts [RCV001202491]|Inborn genetic diseases [RCV003352765]|Severe myoclonic epilepsy in infancy [RCV000059408] |
Chr2:166002753 [GRCh38]
Chr2:166859263 [GRCh37]
Chr2:2q24.3 |
pathogenic|uncertain significance|not provided |
| NM_001165963.4(SCN1A):c.4073G>C (p.Trp1358Ser) |
single nucleotide variant |
Severe myoclonic epilepsy in infancy [RCV000059410] |
Chr2:166002683 [GRCh38]
Chr2:166859193 [GRCh37]
Chr2:2q24.3 |
not provided |
| NM_001165963.4(SCN1A):c.4168G>A (p.Val1390Met) |
single nucleotide variant |
Early infantile epileptic encephalopathy with suppression bursts [RCV000804975]|Inborn genetic diseases [RCV002326783]|Severe myoclonic epilepsy in infancy [RCV000059411]|not provided [RCV000254970] |
Chr2:166002588 [GRCh38]
Chr2:166859098 [GRCh37]
Chr2:2q24.3 |
pathogenic|likely pathogenic|not provided |
| NM_001165963.4(SCN1A):c.4186T>G (p.Cys1396Gly) |
single nucleotide variant |
Early infantile epileptic encephalopathy with suppression bursts [RCV002513780]|Severe myoclonic epilepsy in infancy [RCV000059412] |
Chr2:166002570 [GRCh38]
Chr2:166859080 [GRCh37]
Chr2:2q24.3 |
pathogenic|not provided |
| NM_001165963.4(SCN1A):c.4240A>T (p.Asn1414Tyr) |
single nucleotide variant |
Severe myoclonic epilepsy in infancy [RCV000059413] |
Chr2:166002516 [GRCh38]
Chr2:166859026 [GRCh37]
Chr2:2q24.3 |
not provided |
| NM_001165963.4(SCN1A):c.4265A>G (p.Tyr1422Cys) |
single nucleotide variant |
Early infantile epileptic encephalopathy with suppression bursts [RCV001048734]|Severe myoclonic epilepsy in infancy [RCV000059414] |
Chr2:166002491 [GRCh38]
Chr2:166859001 [GRCh37]
Chr2:2q24.3 |
pathogenic|uncertain significance|not provided |
| NM_001165963.4(SCN1A):c.4277T>G (p.Leu1426Arg) |
single nucleotide variant |
Severe myoclonic epilepsy in infancy [RCV000059415] |
Chr2:166002479 [GRCh38]
Chr2:166858989 [GRCh37]
Chr2:2q24.3 |
not provided |
| NM_001165963.4(SCN1A):c.4297G>A (p.Gly1433Arg) |
single nucleotide variant |
Severe myoclonic epilepsy in infancy [RCV000059416] |
Chr2:165999764 [GRCh38]
Chr2:166856274 [GRCh37]
Chr2:2q24.3 |
not provided |
| NM_001165963.4(SCN1A):c.4321G>C (p.Ala1441Pro) |
single nucleotide variant |
Inborn genetic diseases [RCV001267274]|Severe myoclonic epilepsy in infancy [RCV000059417] |
Chr2:165999740 [GRCh38]
Chr2:166856250 [GRCh37]
Chr2:2q24.3 |
likely pathogenic|not provided |
| NM_001165963.4(SCN1A):c.4352C>T (p.Pro1451Leu) |
single nucleotide variant |
Early infantile epileptic encephalopathy with suppression bursts [RCV000812820]|See cases [RCV003224861]|Severe myoclonic epilepsy in infancy [RCV000059418] |
Chr2:165998162 [GRCh38]
Chr2:166854672 [GRCh37]
Chr2:2q24.3 |
pathogenic|likely pathogenic|not provided |
| NM_001165963.4(SCN1A):c.4385A>G (p.Tyr1462Cys) |
single nucleotide variant |
Severe myoclonic epilepsy in infancy [RCV000059419] |
Chr2:165998129 [GRCh38]
Chr2:166854639 [GRCh37]
Chr2:2q24.3 |
pathogenic|not provided |
| NM_001165963.4(SCN1A):c.4388T>C (p.Phe1463Ser) |
single nucleotide variant |
Severe myoclonic epilepsy in infancy [RCV000059420] |
Chr2:165998126 [GRCh38]
Chr2:166854636 [GRCh37]
Chr2:2q24.3 |
not provided |
| NM_001165963.4(SCN1A):c.4408G>T (p.Gly1470Trp) |
single nucleotide variant |
Severe myoclonic epilepsy in infancy [RCV000059421] |
Chr2:165998106 [GRCh38]
Chr2:166854616 [GRCh37]
Chr2:2q24.3 |
not provided |
| NM_001165963.4(SCN1A):c.4424T>C (p.Leu1475Ser) |
single nucleotide variant |
Severe myoclonic epilepsy in infancy [RCV000059422] |
Chr2:165998090 [GRCh38]
Chr2:166854600 [GRCh37]
Chr2:2q24.3 |
not provided |
| NM_001165963.4(SCN1A):c.4439G>T (p.Gly1480Val) |
single nucleotide variant |
Early infantile epileptic encephalopathy with suppression bursts [RCV003588568]|Myoclonic encephalopathy [RCV000059423] |
Chr2:165998075 [GRCh38]
Chr2:166854585 [GRCh37]
Chr2:2q24.3 |
pathogenic|not provided |
| NM_001165963.4(SCN1A):c.4628T>C (p.Phe1543Ser) |
single nucleotide variant |
Early infantile epileptic encephalopathy with suppression bursts [RCV003764742]|Focal epilepsy [RCV000059424]|Severe myoclonic epilepsy in infancy [RCV001333850]|not provided [RCV000726740] |
Chr2:165994370 [GRCh38]
Chr2:166850880 [GRCh37]
Chr2:2q24.3 |
uncertain significance|not provided |
| NM_001165963.4(SCN1A):c.4633A>G (p.Ile1545Val) |
single nucleotide variant |
Early infantile epileptic encephalopathy with suppression bursts [RCV001069069]|Migraine, familial hemiplegic, 3 [RCV001249684]|Severe myoclonic epilepsy in infancy [RCV000059425] |
Chr2:165994365 [GRCh38]
Chr2:166850875 [GRCh37]
Chr2:2q24.3 |
pathogenic|not provided |
| NM_001165963.4(SCN1A):c.4762T>C (p.Cys1588Arg) |
single nucleotide variant |
Early infantile epileptic encephalopathy with suppression bursts [RCV000636318]|Severe myoclonic epilepsy in infancy [RCV000059426]|not provided [RCV000188974] |
Chr2:165994236 [GRCh38]
Chr2:166850746 [GRCh37]
Chr2:2q24.3 |
pathogenic|likely pathogenic|not provided |
| NM_001165963.4(SCN1A):c.4786C>T (p.Arg1596Cys) |
single nucleotide variant |
Autosomal dominant epilepsy [RCV002265592]|Early infantile epileptic encephalopathy with suppression bursts [RCV000794558]|Focal epilepsy [RCV000059427]|Generalized epilepsy with febrile seizures plus, type 2 [RCV001031013]|Severe myoclonic epilepsy in infancy [RCV001253159]|not provided [RCV000188978] |
Chr2:165994212 [GRCh38]
Chr2:166850722 [GRCh37]
Chr2:2q24.3 |
pathogenic|likely pathogenic|not provided |
| NM_001165963.4(SCN1A):c.4822G>T (p.Asp1608Tyr) |
single nucleotide variant |
Early infantile epileptic encephalopathy with suppression bursts [RCV000636349]|Seizure [RCV000584823]|Severe myoclonic epilepsy in infancy [RCV000059428] |
Chr2:165994176 [GRCh38]
Chr2:166850686 [GRCh37]
Chr2:2q24.3 |
pathogenic|likely pathogenic|conflicting interpretations of pathogenicity|not provided |
| NM_001165963.4(SCN1A):c.484A>C (p.Thr162Pro) |
single nucleotide variant |
Severe myoclonic epilepsy in infancy [RCV000059429] |
Chr2:166054756 [GRCh38]
Chr2:166911266 [GRCh37]
Chr2:2q24.3 |
not provided |
| NM_001165963.4(SCN1A):c.4888G>A (p.Val1630Met) |
single nucleotide variant |
Early infantile epileptic encephalopathy with suppression bursts [RCV001339387]|Severe myoclonic epilepsy in infancy [RCV000059430]|Severe myoclonic epilepsy in infancy [RCV001781396] |
Chr2:165992387 [GRCh38]
Chr2:166848897 [GRCh37]
Chr2:2q24.3 |
pathogenic|likely pathogenic|uncertain significance|not provided |
| NM_001165963.4(SCN1A):c.4907G>A (p.Arg1636Gln) |
single nucleotide variant |
Early infantile epileptic encephalopathy with suppression bursts [RCV000463147]|Inborn genetic diseases [RCV000623263]|Macrocephaly and epileptic encephalopathy [RCV000059431]|Migraine, familial hemiplegic, 3 [RCV002281560]|Severe myoclonic epilepsy in infancy [RCV003448258]|not provided [RCV000176634] |
Chr2:165992368 [GRCh38]
Chr2:166848878 [GRCh37]
Chr2:2q24.3 |
pathogenic|likely pathogenic|not provided |
| NM_001165963.4(SCN1A):c.4934G>A (p.Arg1645Gln) |
single nucleotide variant |
Early infantile epileptic encephalopathy with suppression bursts [RCV001208285]|Inborn genetic diseases [RCV002316217]|Migraine, familial hemiplegic, 3 [RCV000763457]|Migraine, familial hemiplegic, 3 [RCV001198988]|Severe myoclonic epilepsy in infancy [RCV000059432]|not provided [RCV000188986] |
Chr2:165992341 [GRCh38]
Chr2:166848851 [GRCh37]
Chr2:2q24.3 |
pathogenic|not provided |
| NM_001165963.4(SCN1A):c.4970G>A (p.Arg1657His) |
single nucleotide variant |
Autism [RCV001003955]|Early infantile epileptic encephalopathy with suppression bursts [RCV001229900]|Focal epilepsy [RCV000059434] |
Chr2:165992305 [GRCh38]
Chr2:166848815 [GRCh37]
Chr2:2q24.3 |
pathogenic|likely pathogenic|not provided |
| NM_001165963.4(SCN1A):c.4973C>G (p.Thr1658Arg) |
single nucleotide variant |
Severe myoclonic epilepsy in infancy [RCV000059435] |
Chr2:165992302 [GRCh38]
Chr2:166848812 [GRCh37]
Chr2:2q24.3 |
not provided |
| NM_001165963.4(SCN1A):c.5002C>G (p.Pro1668Ala) |
single nucleotide variant |
Severe myoclonic epilepsy in infancy [RCV000059436] |
Chr2:165992273 [GRCh38]
Chr2:166848783 [GRCh37]
Chr2:2q24.3 |
not provided |
| NM_001165963.4(SCN1A):c.5060T>C (p.Phe1687Ser) |
single nucleotide variant |
Generalized epilepsy with febrile seizures plus, type 1 [RCV000059437] |
Chr2:165992215 [GRCh38]
Chr2:166848725 [GRCh37]
Chr2:2q24.3 |
not provided |
| NM_001165963.4(SCN1A):c.5119T>G (p.Phe1707Val) |
single nucleotide variant |
Severe myoclonic epilepsy in infancy [RCV000059438]|not provided [RCV003137600] |
Chr2:165992156 [GRCh38]
Chr2:166848666 [GRCh37]
Chr2:2q24.3 |
uncertain significance|not provided |
| NM_001165963.4(SCN1A):c.5141T>G (p.Met1714Arg) |
single nucleotide variant |
Severe myoclonic epilepsy in infancy [RCV000059439] |
Chr2:165992134 [GRCh38]
Chr2:166848644 [GRCh37]
Chr2:2q24.3 |
not provided |
| NM_001165963.4(SCN1A):c.5146T>C (p.Cys1716Arg) |
single nucleotide variant |
Severe myoclonic epilepsy in infancy [RCV000059440]|not provided [RCV000188987] |
Chr2:165992129 [GRCh38]
Chr2:166848639 [GRCh37]
Chr2:2q24.3 |
pathogenic|not provided |
| NM_001165963.4(SCN1A):c.5162C>G (p.Thr1721Arg) |
single nucleotide variant |
Severe myoclonic epilepsy in infancy [RCV000059441] |
Chr2:165992113 [GRCh38]
Chr2:166848623 [GRCh37]
Chr2:2q24.3 |
not provided |
| NM_001165963.4(SCN1A):c.5285G>A (p.Gly1762Glu) |
single nucleotide variant |
Severe myoclonic epilepsy in infancy [RCV000059442] |
Chr2:165991990 [GRCh38]
Chr2:166848500 [GRCh37]
Chr2:2q24.3 |
pathogenic|not provided |
| NM_001165963.4(SCN1A):c.5318C>T (p.Ser1773Phe) |
single nucleotide variant |
Early infantile epileptic encephalopathy with suppression bursts [RCV000693267]|Severe myoclonic epilepsy in infancy [RCV000059443] |
Chr2:165991957 [GRCh38]
Chr2:166848467 [GRCh37]
Chr2:2q24.3 |
pathogenic|likely pathogenic|not provided |
| NM_001165963.4(SCN1A):c.5339T>C (p.Met1780Thr) |
single nucleotide variant |
Early infantile epileptic encephalopathy with suppression bursts [RCV001854242]|Severe myoclonic epilepsy in infancy [RCV000059444] |
Chr2:165991936 [GRCh38]
Chr2:166848446 [GRCh37]
Chr2:2q24.3 |
pathogenic|not provided |
| NM_001165963.4(SCN1A):c.5347G>A (p.Ala1783Thr) |
single nucleotide variant |
Developmental and epileptic encephalopathy 6B [RCV002468563]|Early infantile epileptic encephalopathy with suppression bursts [RCV001240035]|Generalized epilepsy with febrile seizures plus, type 2 [RCV001849308]|Migraine, familial hemiplegic, 3 [RCV002490666]|Severe myoclonic epilepsy in infancy [RCV000059445]|not provided [RCV000188999] |
Chr2:165991928 [GRCh38]
Chr2:166848438 [GRCh37]
Chr2:2q24.3 |
pathogenic|not provided |
| NM_001165963.4(SCN1A):c.5348C>T (p.Ala1783Val) |
single nucleotide variant |
Early infantile epileptic encephalopathy with suppression bursts [RCV001207693]|Severe myoclonic epilepsy in infancy [RCV000059446]|not provided [RCV000189000] |
Chr2:165991927 [GRCh38]
Chr2:166848437 [GRCh37]
Chr2:2q24.3 |
pathogenic|not provided |
| NM_001165963.4(SCN1A):c.5359G>A (p.Glu1787Lys) |
single nucleotide variant |
Severe myoclonic epilepsy in infancy [RCV000059447] |
Chr2:165991916 [GRCh38]
Chr2:166848426 [GRCh37]
Chr2:2q24.3 |
not provided |
| NM_001165963.4(SCN1A):c.5765T>C (p.Ile1922Thr) |
single nucleotide variant |
Generalized epilepsy with febrile seizures plus, type 2 [RCV002470754]|Severe myoclonic epilepsy in infancy [RCV000059449]|not provided [RCV000189020] |
Chr2:165991510 [GRCh38]
Chr2:166848020 [GRCh37]
Chr2:2q24.3 |
pathogenic|likely pathogenic|not provided |
| NM_001165963.4(SCN1A):c.5782C>G (p.Arg1928Gly) |
single nucleotide variant |
Early infantile epileptic encephalopathy with suppression bursts [RCV001083992]|Epilepsy [RCV000348035]|Generalized epilepsy with febrile seizures plus, type 2 [RCV001133026]|Inborn genetic diseases [RCV002313743]|Migraine, familial hemiplegic, 3 [RCV000290730]|Severe myoclonic epilepsy in infancy [RCV000986868]|not provided [RCV000059450]|not specified [RCV000188822] |
Chr2:165991493 [GRCh38]
Chr2:166848003 [GRCh37]
Chr2:2q24.3 |
benign|likely benign|conflicting interpretations of pathogenicity|uncertain significance|not provided |
| NM_001165963.4(SCN1A):c.580G>A (p.Asp194Asn) |
single nucleotide variant |
Early infantile epileptic encephalopathy with suppression bursts [RCV000636440]|Severe myoclonic epilepsy in infancy [RCV000059451]|not provided [RCV000522680] |
Chr2:166054660 [GRCh38]
Chr2:166911170 [GRCh37]
Chr2:2q24.3 |
pathogenic|likely pathogenic|not provided |
| NM_001165963.4(SCN1A):c.596C>G (p.Thr199Arg) |
single nucleotide variant |
Severe myoclonic epilepsy in infancy [RCV000059452] |
Chr2:166054644 [GRCh38]
Chr2:166911154 [GRCh37]
Chr2:2q24.3 |
not provided |
| NM_001165963.4(SCN1A):c.650C>A (p.Thr217Lys) |
single nucleotide variant |
Early infantile epileptic encephalopathy with suppression bursts [RCV002513781]|Severe myoclonic epilepsy in infancy [RCV000059453] |
Chr2:166052896 [GRCh38]
Chr2:166909406 [GRCh37]
Chr2:2q24.3 |
pathogenic|not provided |
| NM_001165963.4(SCN1A):c.677C>T (p.Thr226Met) |
single nucleotide variant |
Developmental and epileptic encephalopathy 6B [RCV001420531]|Developmental and epileptic encephalopathy, 6 [RCV002470755]|Early infantile epileptic encephalopathy with suppression bursts [RCV000558296]|Global developmental delay [RCV001003956]|Migraine, familial hemiplegic, 3 [RCV000763460]|Severe myoclonic epilepsy in infancy [RCV000059454]|Severe myoclonic epilepsy in infancy [RCV003764743]|not provided [RCV000188843] |
Chr2:166052869 [GRCh38]
Chr2:166909379 [GRCh37]
Chr2:2q24.3 |
pathogenic|not provided |
| NM_001165963.4(SCN1A):c.680T>G (p.Ile227Ser) |
single nucleotide variant |
Early infantile epileptic encephalopathy with suppression bursts [RCV000636408]|Severe myoclonic epilepsy in infancy [RCV000059455]|not provided [RCV000188842] |
Chr2:166052866 [GRCh38]
Chr2:166909376 [GRCh37]
Chr2:2q24.3 |
pathogenic|not provided |
| NM_001165963.4(SCN1A):c.715G>A (p.Ala239Thr) |
single nucleotide variant |
Early infantile epileptic encephalopathy with suppression bursts [RCV003588569]|Severe myoclonic epilepsy in infancy [RCV000059456] |
Chr2:166051968 [GRCh38]
Chr2:166908478 [GRCh37]
Chr2:2q24.3 |
pathogenic|not provided |
| NM_001165963.4(SCN1A):c.716C>T (p.Ala239Val) |
single nucleotide variant |
Severe myoclonic epilepsy in infancy [RCV000059457] |
Chr2:166051967 [GRCh38]
Chr2:166908477 [GRCh37]
Chr2:2q24.3 |
pathogenic|not provided |
| NM_001165963.4(SCN1A):c.80G>C (p.Arg27Thr) |
single nucleotide variant |
Early infantile epileptic encephalopathy with suppression bursts [RCV001453714]|Generalized epilepsy with febrile seizures plus, type 1 [RCV000059458]|Inborn genetic diseases [RCV002415520]|not provided [RCV000585038] |
Chr2:166073542 [GRCh38]
Chr2:166930052 [GRCh37]
Chr2:2q24.3 |
likely benign|conflicting interpretations of pathogenicity|uncertain significance|not provided |
| NM_001165963.4(SCN1A):c.838T>C (p.Trp280Arg) |
single nucleotide variant |
Early infantile epileptic encephalopathy with suppression bursts [RCV003588570]|Severe myoclonic epilepsy in infancy [RCV000059459] |
Chr2:166051845 [GRCh38]
Chr2:166908355 [GRCh37]
Chr2:2q24.3 |
pathogenic|not provided |
| NM_001165963.4(SCN1A):c.965G>T (p.Arg322Ile) |
single nucleotide variant |
Early infantile epileptic encephalopathy with suppression bursts [RCV000808399]|Severe myoclonic epilepsy in infancy [RCV000059460] |
Chr2:166048949 [GRCh38]
Chr2:166905459 [GRCh37]
Chr2:2q24.3 |
pathogenic|likely pathogenic|not provided |
| NM_001165963.4(SCN1A):c.1028G>A (p.Gly343Asp) |
single nucleotide variant |
Early infantile epileptic encephalopathy with suppression bursts [RCV001390614]|Inborn genetic diseases [RCV002381374]|Severe myoclonic epilepsy in infancy [RCV000059461] |
Chr2:166048886 [GRCh38]
Chr2:166905396 [GRCh37]
Chr2:2q24.3 |
pathogenic|likely pathogenic|not provided |
| NM_001165963.4(SCN1A):c.1162T>C (p.Tyr388His) |
single nucleotide variant |
Early infantile epileptic encephalopathy with suppression bursts [RCV001854243]|Generalized epilepsy with febrile seizures plus, type 1 [RCV000059462]|not provided [RCV000518904] |
Chr2:166047635 [GRCh38]
Chr2:166904145 [GRCh37]
Chr2:2q24.3 |
pathogenic|not provided |
| NM_001165963.4(SCN1A):c.1216G>T (p.Val406Phe) |
single nucleotide variant |
Early infantile epileptic encephalopathy with suppression bursts [RCV002514306]|Severe myoclonic epilepsy in infancy [RCV000059463]|not provided [RCV000180562] |
Chr2:166046931 [GRCh38]
Chr2:166903441 [GRCh37]
Chr2:2q24.3 |
pathogenic|uncertain significance|not provided |
| NM_001165963.4(SCN1A):c.1625G>A (p.Arg542Gln) |
single nucleotide variant |
Autism [RCV000059464]|Childhood epilepsy with centrotemporal spikes [RCV000655983]|Early infantile epileptic encephalopathy with suppression bursts [RCV000475058]|Inborn genetic diseases [RCV002316218]|Intellectual disability [RCV001252611]|SCN1A-related condition [RCV003915025]|Severe myoclonic epilepsy in infancy [RCV000578859]|Severe myoclonic epilepsy in infancy [RCV000789040]|not provided [RCV001705717]|not specified [RCV000118239] |
Chr2:166045080 [GRCh38]
Chr2:166901590 [GRCh37]
Chr2:2q24.3 |
pathogenic|likely pathogenic|benign|likely benign|conflicting interpretations of pathogenicity|uncertain significance|no classifications from unflagged records|not provided |
| NM_001165963.4(SCN1A):c.1811G>A (p.Arg604His) |
single nucleotide variant |
Early infantile epileptic encephalopathy with suppression bursts [RCV001087094]|Epilepsy [RCV000259883]|Generalized epilepsy with febrile seizures plus, type 2 [RCV001132420]|Inborn genetic diseases [RCV002311541]|Migraine, familial hemiplegic, 3 [RCV000355074]|SCN1A-related condition [RCV003894914]|Severe myoclonic epilepsy in infancy [RCV000059465]|not provided [RCV000434909]|not specified [RCV000079561] |
Chr2:166043901 [GRCh38]
Chr2:166900411 [GRCh37]
Chr2:2q24.3 |
pathogenic|likely pathogenic|benign|likely benign|conflicting interpretations of pathogenicity|not provided |
| NM_001165963.4(SCN1A):c.2369A>G (p.Tyr790Cys) |
single nucleotide variant |
Early infantile epileptic encephalopathy with suppression bursts [RCV002514307]|Generalized epilepsy with febrile seizures plus, type 1 [RCV000059466] |
Chr2:166041277 [GRCh38]
Chr2:166897787 [GRCh37]
Chr2:2q24.3 |
likely pathogenic|not provided |
| NM_001165963.4(SCN1A):c.2422A>T (p.Thr808Ser) |
single nucleotide variant |
Severe myoclonic epilepsy in infancy [RCV000059467] |
Chr2:166039590 [GRCh38]
Chr2:166896100 [GRCh37]
Chr2:2q24.3 |
not provided |
| NM_001165963.4(SCN1A):c.2575C>T (p.Arg859Cys) |
single nucleotide variant |
Early infantile epileptic encephalopathy with suppression bursts [RCV001382870]|Generalized epilepsy with febrile seizures plus, type 1 [RCV000059468]|Generalized epilepsy with febrile seizures plus, type 2 [RCV002247462]|Seizure [RCV001352915]|not provided [RCV000255099] |
Chr2:166039437 [GRCh38]
Chr2:166895947 [GRCh37]
Chr2:2q24.3 |
pathogenic|not provided |
| NM_001165963.4(SCN1A):c.2585G>A (p.Arg862Gln) |
single nucleotide variant |
Early infantile epileptic encephalopathy with suppression bursts [RCV000798343]|Severe myoclonic epilepsy in infancy [RCV000059469]|not provided [RCV000591357] |
Chr2:166039427 [GRCh38]
Chr2:166895937 [GRCh37]
Chr2:2q24.3 |
pathogenic|likely pathogenic|conflicting interpretations of pathogenicity|uncertain significance|not provided |
| NM_001165963.4(SCN1A):c.2624C>A (p.Thr875Lys) |
single nucleotide variant |
Generalized epilepsy with febrile seizures plus, type 2 [RCV002247463]|Severe myoclonic epilepsy in infancy [RCV000059470] |
Chr2:166038098 [GRCh38]
Chr2:166894608 [GRCh37]
Chr2:2q24.3 |
likely pathogenic|not provided |
| NM_001165963.4(SCN1A):c.2705T>G (p.Phe902Cys) |
single nucleotide variant |
Severe myoclonic epilepsy in infancy [RCV000059472] |
Chr2:166038017 [GRCh38]
Chr2:166894527 [GRCh37]
Chr2:2q24.3 |
not provided |
| NM_001165963.4(SCN1A):c.269T>C (p.Phe90Ser) |
single nucleotide variant |
Severe myoclonic epilepsy in infancy [RCV000059473]|not provided [RCV000332135] |
Chr2:166058684 [GRCh38]
Chr2:166915194 [GRCh37]
Chr2:2q24.3 |
pathogenic|likely pathogenic|conflicting interpretations of pathogenicity|not provided |
| NM_001165963.4(SCN1A):c.272T>C (p.Ile91Thr) |
single nucleotide variant |
Early infantile epileptic encephalopathy with suppression bursts [RCV000819332]|Generalized epilepsy with febrile seizures plus, type 2 [RCV003157390]|Severe myoclonic epilepsy in infancy [RCV000059474] |
Chr2:166058681 [GRCh38]
Chr2:166915191 [GRCh37]
Chr2:2q24.3 |
pathogenic|uncertain significance|not provided |
| NM_001165963.4(SCN1A):c.2791C>T (p.Arg931Cys) |
single nucleotide variant |
Early infantile epileptic encephalopathy with suppression bursts [RCV000636409]|SCN1A-related condition [RCV003952485]|Severe myoclonic epilepsy in infancy [RCV000059475]|not provided [RCV000188897] |
Chr2:166037931 [GRCh38]
Chr2:166894441 [GRCh37]
Chr2:2q24.3 |
pathogenic|likely pathogenic|not provided |
| NM_001165963.4(SCN1A):c.2802G>C (p.Met934Ile) |
single nucleotide variant |
Severe myoclonic epilepsy in infancy [RCV000059476] |
Chr2:166037920 [GRCh38]
Chr2:166894430 [GRCh37]
Chr2:2q24.3 |
not provided |
| NM_001165963.4(SCN1A):c.2815C>T (p.His939Tyr) |
single nucleotide variant |
Severe myoclonic epilepsy in infancy [RCV000059477]|not provided [RCV001548630] |
Chr2:166037907 [GRCh38]
Chr2:166894417 [GRCh37]
Chr2:2q24.3 |
pathogenic|likely pathogenic|not provided |
| NM_001165963.4(SCN1A):c.2817C>G (p.His939Gln) |
single nucleotide variant |
Severe myoclonic epilepsy in infancy [RCV000059478] |
Chr2:166037905 [GRCh38]
Chr2:166894415 [GRCh37]
Chr2:2q24.3 |
not provided |
| NM_001165963.4(SCN1A):c.2831T>C (p.Val944Ala) |
single nucleotide variant |
Early infantile epileptic encephalopathy with suppression bursts [RCV000636356]|Severe myoclonic epilepsy in infancy [RCV000059479] |
Chr2:166037891 [GRCh38]
Chr2:166894401 [GRCh37]
Chr2:2q24.3 |
pathogenic|not provided |
| NM_001165963.4(SCN1A):c.2836C>A (p.Arg946Ser) |
single nucleotide variant |
Severe myoclonic epilepsy in infancy [RCV000059480] |
Chr2:166037886 [GRCh38]
Chr2:166894396 [GRCh37]
Chr2:2q24.3 |
not provided |
| NM_001165963.4(SCN1A):c.2836C>T (p.Arg946Cys) |
single nucleotide variant |
Early infantile epileptic encephalopathy with suppression bursts [RCV000636276]|Generalized epilepsy with febrile seizures plus, type 2 [RCV000118240]|Severe myoclonic epilepsy in infancy [RCV000059481]|not provided [RCV000189085] |
Chr2:166037886 [GRCh38]
Chr2:166894396 [GRCh37]
Chr2:2q24.3 |
pathogenic|not provided |
| NM_001165963.4(SCN1A):c.2854T>G (p.Trp952Gly) |
single nucleotide variant |
Severe myoclonic epilepsy in infancy [RCV000059482] |
Chr2:166037868 [GRCh38]
Chr2:166894378 [GRCh37]
Chr2:2q24.3 |
pathogenic|not provided |
| NM_001165963.4(SCN1A):c.2860G>A (p.Glu954Lys) |
single nucleotide variant |
Early infantile epileptic encephalopathy with suppression bursts [RCV001054726]|Severe myoclonic epilepsy in infancy [RCV000059483] |
Chr2:166037862 [GRCh38]
Chr2:166894372 [GRCh37]
Chr2:2q24.3 |
pathogenic|not provided |
| NM_001165963.4(SCN1A):c.2875T>C (p.Cys959Arg) |
single nucleotide variant |
Early infantile epileptic encephalopathy with suppression bursts [RCV001387943]|Severe myoclonic epilepsy in infancy [RCV000059484] |
Chr2:166037847 [GRCh38]
Chr2:166894357 [GRCh37]
Chr2:2q24.3 |
pathogenic|likely pathogenic|not provided |
| NM_001165963.4(SCN1A):c.2878A>G (p.Met960Val) |
single nucleotide variant |
Early infantile epileptic encephalopathy with suppression bursts [RCV000817420]|Generalized epilepsy with febrile seizures plus, type 2 [RCV002247464]|Severe myoclonic epilepsy in infancy [RCV000059485] |
Chr2:166037844 [GRCh38]
Chr2:166894354 [GRCh37]
Chr2:2q24.3 |
pathogenic|uncertain significance|not provided |
| NM_001165963.4(SCN1A):c.2935G>A (p.Gly979Arg) |
single nucleotide variant |
Severe myoclonic epilepsy in infancy [RCV000059486]|not provided [RCV000519810] |
Chr2:166037787 [GRCh38]
Chr2:166894297 [GRCh37]
Chr2:2q24.3 |
pathogenic|not provided |
| NM_001165963.4(SCN1A):c.2948T>C (p.Val983Ala) |
single nucleotide variant |
Severe myoclonic epilepsy in infancy [RCV000059487] |
Chr2:166036529 [GRCh38]
Chr2:166893039 [GRCh37]
Chr2:2q24.3 |
not provided |
| NM_001165963.4(SCN1A):c.2954A>T (p.Asn985Ile) |
single nucleotide variant |
Severe myoclonic epilepsy in infancy [RCV000059488] |
Chr2:166036523 [GRCh38]
Chr2:166893033 [GRCh37]
Chr2:2q24.3 |
not provided |
| NM_001165963.4(SCN1A):c.3032A>T (p.Asn1011Ile) |
single nucleotide variant |
Severe myoclonic epilepsy in infancy [RCV000059489] |
Chr2:166036445 [GRCh38]
Chr2:166892955 [GRCh37]
Chr2:2q24.3 |
not provided |
| NM_001165963.4(SCN1A):c.3101T>C (p.Ile1034Thr) |
single nucleotide variant |
Autism [RCV000059490]|Early infantile epileptic encephalopathy with suppression bursts [RCV001472297]|Inborn genetic diseases [RCV002321561]|SCN1A-related condition [RCV003944983]|not provided [RCV000526763]|not specified [RCV000188910] |
Chr2:166036376 [GRCh38]
Chr2:166892886 [GRCh37]
Chr2:2q24.3 |
benign|likely benign|conflicting interpretations of pathogenicity|uncertain significance |
| NM_001165963.4(SCN1A):c.307A>G (p.Ser103Gly) |
single nucleotide variant |
Severe myoclonic epilepsy in infancy [RCV000059491] |
Chr2:166058646 [GRCh38]
Chr2:166915156 [GRCh37]
Chr2:2q24.3 |
not provided |
| NM_001165963.4(SCN1A):c.335C>T (p.Thr112Ile) |
single nucleotide variant |
Early infantile epileptic encephalopathy with suppression bursts [RCV001854244]|Severe myoclonic epilepsy in infancy [RCV000059492]|not provided [RCV000433130] |
Chr2:166058618 [GRCh38]
Chr2:166915128 [GRCh37]
Chr2:2q24.3 |
likely pathogenic|not provided |
| NM_001165963.4(SCN1A):c.3521C>G (p.Thr1174Ser) |
single nucleotide variant |
Childhood epilepsy with centrotemporal spikes [RCV000655982]|Early infantile epileptic encephalopathy with suppression bursts [RCV001082811]|Epilepsy [RCV000296106]|Generalized epilepsy with febrile seizures plus, type 2 [RCV001129578]|Inborn genetic diseases [RCV002313744]|Migraine, familial hemiplegic, 3 [RCV000059493]|SCN1A-related condition [RCV003915026]|Seizure [RCV000415355]|Severe myoclonic epilepsy in infancy [RCV000986890]|not provided [RCV000723551]|not specified [RCV000188915] |
Chr2:166015636 [GRCh38]
Chr2:166872146 [GRCh37]
Chr2:2q24.3 |
pathogenic|benign|likely benign|conflicting interpretations of pathogenicity|uncertain significance|not provided |
| NM_001165963.4(SCN1A):c.3629C>A (p.Thr1210Lys) |
single nucleotide variant |
Severe myoclonic epilepsy in infancy [RCV000059494] |
Chr2:166013820 [GRCh38]
Chr2:166870330 [GRCh37]
Chr2:2q24.3 |
pathogenic|not provided |
| NM_001165963.4(SCN1A):c.3692G>C (p.Ser1231Thr) |
single nucleotide variant |
Severe myoclonic epilepsy in infancy [RCV000059495] |
Chr2:166013757 [GRCh38]
Chr2:166870267 [GRCh37]
Chr2:2q24.3 |
not provided |
| NM_001165963.4(SCN1A):c.3693T>A (p.Ser1231Arg) |
single nucleotide variant |
Severe myoclonic epilepsy in infancy [RCV000059496] |
Chr2:166013756 [GRCh38]
Chr2:166870266 [GRCh37]
Chr2:2q24.3 |
not provided |
| NM_001165963.4(SCN1A):c.371T>A (p.Ile124Asn) |
single nucleotide variant |
Severe myoclonic epilepsy in infancy [RCV000059497] |
Chr2:166058582 [GRCh38]
Chr2:166915092 [GRCh37]
Chr2:2q24.3 |
not provided |
| NM_001165963.4(SCN1A):c.3778A>C (p.Thr1260Pro) |
single nucleotide variant |
Severe myoclonic epilepsy in infancy [RCV000059498]|not provided [RCV003137601] |
Chr2:166012210 [GRCh38]
Chr2:166868720 [GRCh37]
Chr2:2q24.3 |
pathogenic|uncertain significance|not provided |
| NM_001165963.4(SCN1A):c.3789C>G (p.Phe1263Leu) |
single nucleotide variant |
Severe myoclonic epilepsy in infancy [RCV000059499] |
Chr2:166012199 [GRCh38]
Chr2:166868709 [GRCh37]
Chr2:2q24.3 |
not provided |
| NM_001165963.4(SCN1A):c.3794T>C (p.Leu1265Pro) |
single nucleotide variant |
Severe myoclonic epilepsy in infancy [RCV000059500] |
Chr2:166012194 [GRCh38]
Chr2:166868704 [GRCh37]
Chr2:2q24.3 |
not provided |
| NM_001165963.4(SCN1A):c.3860T>C (p.Leu1287Pro) |
single nucleotide variant |
Early infantile epileptic encephalopathy with suppression bursts [RCV001385513]|Severe myoclonic epilepsy in infancy [RCV000059502] |
Chr2:166012128 [GRCh38]
Chr2:166868638 [GRCh37]
Chr2:2q24.3 |
pathogenic|not provided |
| NM_001165963.4(SCN1A):c.3925C>T (p.Leu1309Phe) |
single nucleotide variant |
Early infantile epileptic encephalopathy with suppression bursts [RCV001220193]|Generalized epilepsy with febrile seizures plus, type 1 [RCV000059503]|Severe myoclonic epilepsy in infancy [RCV001786331]|not specified [RCV000188936] |
Chr2:166009796 [GRCh38]
Chr2:166866306 [GRCh37]
Chr2:2q24.3 |
pathogenic|likely pathogenic|uncertain significance|not provided |
| NM_001165963.4(SCN1A):c.3976G>C (p.Ala1326Pro) |
single nucleotide variant |
Severe myoclonic epilepsy in infancy [RCV000059504] |
Chr2:166009745 [GRCh38]
Chr2:166866255 [GRCh37]
Chr2:2q24.3 |
not provided |
| NM_001165963.4(SCN1A):c.4064T>C (p.Leu1355Pro) |
single nucleotide variant |
Severe myoclonic epilepsy in infancy [RCV000059505] |
Chr2:166002692 [GRCh38]
Chr2:166859202 [GRCh37]
Chr2:2q24.3 |
not provided |
| NM_001165963.4(SCN1A):c.4096G>A (p.Val1366Ile) |
single nucleotide variant |
Early infantile epileptic encephalopathy with suppression bursts [RCV001381481]|Generalized epilepsy with febrile seizures plus, type 1 [RCV000059506]|not provided [RCV001719807] |
Chr2:166002660 [GRCh38]
Chr2:166859170 [GRCh37]
Chr2:2q24.3 |
pathogenic|uncertain significance|not provided |
| NM_001165963.4(SCN1A):c.4101T>A (p.Asn1367Lys) |
single nucleotide variant |
Severe myoclonic epilepsy in infancy [RCV000059507] |
Chr2:166002655 [GRCh38]
Chr2:166859165 [GRCh37]
Chr2:2q24.3 |
not provided |
| NM_001165963.4(SCN1A):c.4298G>A (p.Gly1433Glu) |
single nucleotide variant |
Early infantile epileptic encephalopathy with suppression bursts [RCV001067468]|Severe myoclonic epilepsy in infancy [RCV000059509]|not provided [RCV000521069] |
Chr2:165999763 [GRCh38]
Chr2:166856273 [GRCh37]
Chr2:2q24.3 |
pathogenic|not provided |
| NM_001165963.4(SCN1A):c.4300T>C (p.Trp1434Arg) |
single nucleotide variant |
Early infantile epileptic encephalopathy with suppression bursts [RCV001854245]|Generalized epilepsy with febrile seizures plus, type 2 [RCV001253411]|Severe myoclonic epilepsy in infancy [RCV000059510]|not provided [RCV001091662] |
Chr2:165999761 [GRCh38]
Chr2:166856271 [GRCh37]
Chr2:2q24.3 |
pathogenic|not provided |
| NM_001165963.4(SCN1A):c.4348C>A (p.Gln1450Lys) |
single nucleotide variant |
Severe myoclonic epilepsy in infancy [RCV000059511] |
Chr2:165998166 [GRCh38]
Chr2:166854676 [GRCh37]
Chr2:2q24.3 |
not provided |
| NM_001165963.4(SCN1A):c.4349A>G (p.Gln1450Arg) |
single nucleotide variant |
Severe myoclonic epilepsy in infancy [RCV000059512] |
Chr2:165998165 [GRCh38]
Chr2:166854675 [GRCh37]
Chr2:2q24.3 |
not provided |
| NM_001165963.4(SCN1A):c.4381C>A (p.Leu1461Ile) |
single nucleotide variant |
Severe myoclonic epilepsy in infancy [RCV000059513] |
Chr2:165998133 [GRCh38]
Chr2:166854643 [GRCh37]
Chr2:2q24.3 |
not provided |
| NM_001165963.4(SCN1A):c.4541T>C (p.Leu1514Ser) |
single nucleotide variant |
Early infantile epileptic encephalopathy with suppression bursts [RCV001296129]|Severe myoclonic epilepsy in infancy [RCV000059514]|not specified [RCV000517134] |
Chr2:165996053 [GRCh38]
Chr2:166852563 [GRCh37]
Chr2:2q24.3 |
likely pathogenic|uncertain significance|not provided |
| NM_001165963.4(SCN1A):c.4723C>T (p.Arg1575Cys) |
single nucleotide variant |
Early infantile epileptic encephalopathy with suppression bursts [RCV001513378]|Severe myoclonic epilepsy in infancy [RCV000986874]|not provided [RCV000059515] |
Chr2:165994275 [GRCh38]
Chr2:166850785 [GRCh37]
Chr2:2q24.3 |
benign|likely benign|conflicting interpretations of pathogenicity|uncertain significance|not provided |
| NM_001165963.4(SCN1A):c.4757G>A (p.Gly1586Glu) |
single nucleotide variant |
Early infantile epileptic encephalopathy with suppression bursts [RCV003588571]|Severe myoclonic epilepsy in infancy [RCV000059516] |
Chr2:165994241 [GRCh38]
Chr2:166850751 [GRCh37]
Chr2:166558997 [NCBI36]
Chr2:2q24.3 |
pathogenic|not provided |
| NM_001165963.4(SCN1A):c.4834G>A (p.Val1612Ile) |
single nucleotide variant |
Early infantile epileptic encephalopathy with suppression bursts [RCV002054913]|Inborn genetic diseases [RCV002336219]|Plagiocephaly [RCV000735365]|Severe myoclonic epilepsy in infancy [RCV000059517] |
Chr2:165994164 [GRCh38]
Chr2:166850674 [GRCh37]
Chr2:2q24.3 |
likely benign|uncertain significance|not provided |
| NM_001165963.4(SCN1A):c.4894C>T (p.Pro1632Ser) |
single nucleotide variant |
Severe myoclonic epilepsy in infancy [RCV000059518] |
Chr2:165992381 [GRCh38]
Chr2:166848891 [GRCh37]
Chr2:2q24.3 |
not provided |
| NM_001165963.4(SCN1A):c.4910T>A (p.Val1637Glu) |
single nucleotide variant |
not provided [RCV000059519] |
Chr2:165992365 [GRCh38]
Chr2:166848875 [GRCh37]
Chr2:2q24.3 |
not provided |
| NM_001165963.4(SCN1A):c.4942C>T (p.Arg1648Cys) |
single nucleotide variant |
Early infantile epileptic encephalopathy with suppression bursts [RCV003588572]|Severe myoclonic epilepsy in infancy [RCV000059520]|not provided [RCV003233101] |
Chr2:165992333 [GRCh38]
Chr2:166848843 [GRCh37]
Chr2:2q24.3 |
pathogenic|not provided |
| NM_001165963.4(SCN1A):c.4969C>T (p.Arg1657Cys) |
single nucleotide variant |
Early infantile epileptic encephalopathy with suppression bursts [RCV003588573]|Generalized epilepsy with febrile seizures plus, type 1 [RCV000059522]|Generalized epilepsy with febrile seizures plus, type 2 [RCV001711166]|not provided [RCV001171717] |
Chr2:165992306 [GRCh38]
Chr2:166848816 [GRCh37]
Chr2:2q24.3 |
pathogenic|not provided |
| NM_001165963.4(SCN1A):c.4973C>T (p.Thr1658Met) |
single nucleotide variant |
Early infantile epileptic encephalopathy with suppression bursts [RCV000529623]|Severe myoclonic epilepsy in infancy [RCV000059523] |
Chr2:165992302 [GRCh38]
Chr2:166848812 [GRCh37]
Chr2:2q24.3 |
pathogenic|likely pathogenic|conflicting interpretations of pathogenicity|uncertain significance|not provided |
| NM_001165963.4(SCN1A):c.4982T>C (p.Phe1661Ser) |
single nucleotide variant |
Severe myoclonic epilepsy in infancy [RCV000059524] |
Chr2:165992293 [GRCh38]
Chr2:166848803 [GRCh37]
Chr2:2q24.3 |
not provided |
| NM_001165963.4(SCN1A):c.4991T>A (p.Met1664Lys) |
single nucleotide variant |
Severe myoclonic epilepsy in infancy [RCV000059525] |
Chr2:165992284 [GRCh38]
Chr2:166848794 [GRCh37]
Chr2:2q24.3 |
not provided |
| NM_001165963.4(SCN1A):c.5020G>C (p.Gly1674Arg) |
single nucleotide variant |
Severe myoclonic epilepsy in infancy [RCV000059526] |
Chr2:165992255 [GRCh38]
Chr2:166848765 [GRCh37]
Chr2:2q24.3 |
not provided |
| NM_001165963.4(SCN1A):c.5054C>A (p.Ala1685Asp) |
single nucleotide variant |
Severe myoclonic epilepsy in infancy [RCV000059527] |
Chr2:165992221 [GRCh38]
Chr2:166848731 [GRCh37]
Chr2:2q24.3 |
not provided |
| NM_001165963.4(SCN1A):c.5054C>T (p.Ala1685Val) |
single nucleotide variant |
Early infantile epileptic encephalopathy with suppression bursts [RCV001854246]|Generalized epilepsy with febrile seizures plus, type 1 [RCV000059528] |
Chr2:165992221 [GRCh38]
Chr2:166848731 [GRCh37]
Chr2:2q24.3 |
pathogenic|not provided |
| NM_001165963.4(SCN1A):c.5075T>C (p.Phe1692Ser) |
single nucleotide variant |
Early infantile epileptic encephalopathy with suppression bursts [RCV002514308]|Severe myoclonic epilepsy in infancy [RCV000059529] |
Chr2:165992200 [GRCh38]
Chr2:166848710 [GRCh37]
Chr2:2q24.3 |
likely pathogenic|not provided |
| NM_001165963.4(SCN1A):c.5081A>G (p.Tyr1694Cys) |
single nucleotide variant |
Early infantile epileptic encephalopathy with suppression bursts [RCV000465483]|Severe myoclonic epilepsy in infancy [RCV000059530]|not specified [RCV000501085] |
Chr2:165992194 [GRCh38]
Chr2:166848704 [GRCh37]
Chr2:2q24.3 |
pathogenic|uncertain significance|not provided |
| NM_001165963.4(SCN1A):c.5138G>A (p.Ser1713Asn) |
single nucleotide variant |
Severe myoclonic epilepsy in infancy [RCV000059531] |
Chr2:165992137 [GRCh38]
Chr2:166848647 [GRCh37]
Chr2:2q24.3 |
not provided |
| NM_001165963.4(SCN1A):c.512T>A (p.Ile171Lys) |
single nucleotide variant |
Severe myoclonic epilepsy in infancy [RCV000059532] |
Chr2:166054728 [GRCh38]
Chr2:166911238 [GRCh37]
Chr2:2q24.3 |
not provided |
| NM_001165963.4(SCN1A):c.5225A>G (p.Asp1742Gly) |
single nucleotide variant |
Generalized epilepsy with febrile seizures plus, type 1 [RCV000059533] |
Chr2:165992050 [GRCh38]
Chr2:166848560 [GRCh37]
Chr2:2q24.3 |
not provided |
| NM_001165963.4(SCN1A):c.5246G>A (p.Gly1749Glu) |
single nucleotide variant |
Severe myoclonic epilepsy in infancy [RCV000059534] |
Chr2:165992029 [GRCh38]
Chr2:166848539 [GRCh37]
Chr2:2q24.3 |
not provided |
| NM_001165963.4(SCN1A):c.5266T>G (p.Cys1756Gly) |
single nucleotide variant |
Severe myoclonic epilepsy in infancy [RCV000059535] |
Chr2:165992009 [GRCh38]
Chr2:166848519 [GRCh37]
Chr2:2q24.3 |
not provided |
| NM_001165963.4(SCN1A):c.523G>A (p.Ala175Thr) |
single nucleotide variant |
Early infantile epileptic encephalopathy with suppression bursts [RCV001062878]|Severe myoclonic epilepsy in infancy [RCV000059536] |
Chr2:166054717 [GRCh38]
Chr2:166911227 [GRCh37]
Chr2:2q24.3 |
pathogenic|not provided |
| NM_001165963.4(SCN1A):c.5342A>G (p.Tyr1781Cys) |
single nucleotide variant |
Severe myoclonic epilepsy in infancy [RCV000059537] |
Chr2:165991933 [GRCh38]
Chr2:166848443 [GRCh37]
Chr2:2q24.3 |
not provided |
| NM_001165963.4(SCN1A):c.530G>A (p.Gly177Glu) |
single nucleotide variant |
Early infantile epileptic encephalopathy with suppression bursts [RCV001246264]|Severe myoclonic epilepsy in infancy [RCV000059538] |
Chr2:166054710 [GRCh38]
Chr2:166911220 [GRCh37]
Chr2:2q24.3 |
pathogenic|not provided |
| NM_001165963.4(SCN1A):c.5346C>G (p.Ile1782Met) |
single nucleotide variant |
Severe myoclonic epilepsy in infancy [RCV000059539] |
Chr2:165991929 [GRCh38]
Chr2:166848439 [GRCh37]
Chr2:2q24.3 |
pathogenic|not provided |
| NM_001165963.4(SCN1A):c.5383G>A (p.Glu1795Lys) |
single nucleotide variant |
Early infantile epileptic encephalopathy with suppression bursts [RCV000792317]|Generalized epilepsy with febrile seizures plus, type 1 [RCV000059540]|Migraine, familial hemiplegic, 3 [RCV000764284]|not specified [RCV000489760] |
Chr2:165991892 [GRCh38]
Chr2:166848402 [GRCh37]
Chr2:2q24.3 |
pathogenic|uncertain significance|not provided |
| NM_001165963.4(SCN1A):c.5422T>C (p.Phe1808Leu) |
single nucleotide variant |
Severe myoclonic epilepsy in infancy [RCV000059541]|not provided [RCV000435635] |
Chr2:165991853 [GRCh38]
Chr2:166848363 [GRCh37]
Chr2:2q24.3 |
pathogenic|not provided |
| NM_001165963.4(SCN1A):c.5434T>G (p.Trp1812Gly) |
single nucleotide variant |
Seizure [RCV000193290]|Severe myoclonic epilepsy in infancy [RCV000059542]|not provided [RCV000478850] |
Chr2:165991841 [GRCh38]
Chr2:166848351 [GRCh37]
Chr2:2q24.3 |
likely pathogenic|not provided |
| NM_001165963.4(SCN1A):c.5492T>C (p.Phe1831Ser) |
single nucleotide variant |
Severe myoclonic epilepsy in infancy [RCV000059543] |
Chr2:165991783 [GRCh38]
Chr2:166848293 [GRCh37]
Chr2:2q24.3 |
not provided |
| NM_001165963.4(SCN1A):c.5555T>C (p.Met1852Thr) |
single nucleotide variant |
Early infantile epileptic encephalopathy with suppression bursts [RCV001854247]|Generalized epilepsy with febrile seizures plus, type 1 [RCV000059544]|Severe myoclonic epilepsy in infancy [RCV000180879] |
Chr2:165991720 [GRCh38]
Chr2:166848230 [GRCh37]
Chr2:2q24.3 |
pathogenic|not provided |
| NM_001165963.4(SCN1A):c.5569G>T (p.Val1857Leu) |
single nucleotide variant |
Generalized epilepsy with febrile seizures plus, type 1 [RCV000059545] |
Chr2:165991706 [GRCh38]
Chr2:166848216 [GRCh37]
Chr2:2q24.3 |
not provided |
| NM_001165963.4(SCN1A):c.5596G>T (p.Asp1866Tyr) |
single nucleotide variant |
Generalized epilepsy with febrile seizures plus, type 1 [RCV000059546] |
Chr2:165991679 [GRCh38]
Chr2:166848189 [GRCh37]
Chr2:2q24.3 |
not provided |
| NM_001165963.4(SCN1A):c.5643G>C (p.Glu1881Asp) |
single nucleotide variant |
Severe myoclonic epilepsy in infancy [RCV000059547] |
Chr2:165991632 [GRCh38]
Chr2:166848142 [GRCh37]
Chr2:2q24.3 |
not provided |
| NM_001165963.4(SCN1A):c.568T>C (p.Trp190Arg) |
single nucleotide variant |
Early infantile epileptic encephalopathy with suppression bursts [RCV001854248]|Severe myoclonic epilepsy in infancy [RCV000059548] |
Chr2:166054672 [GRCh38]
Chr2:166911182 [GRCh37]
Chr2:2q24.3 |
pathogenic|not provided |
| NM_001165963.4(SCN1A):c.5726C>T (p.Thr1909Ile) |
single nucleotide variant |
Early infantile epileptic encephalopathy with suppression bursts [RCV000705871]|Severe myoclonic epilepsy in infancy [RCV000059549]|not provided [RCV000494436] |
Chr2:165991549 [GRCh38]
Chr2:166848059 [GRCh37]
Chr2:2q24.3 |
pathogenic|likely pathogenic|not provided |
| NM_001165963.4(SCN1A):c.571A>T (p.Asn191Tyr) |
single nucleotide variant |
Severe myoclonic epilepsy in infancy [RCV000059550] |
Chr2:166054669 [GRCh38]
Chr2:166911179 [GRCh37]
Chr2:2q24.3 |
not provided |
| NM_001165963.4(SCN1A):c.5870A>G (p.Glu1957Gly) |
single nucleotide variant |
Early infantile epileptic encephalopathy with suppression bursts [RCV000537890]|Migraine, familial hemiplegic, 3 [RCV000764283]|West syndrome [RCV000059551]|not provided [RCV000416094]|not specified [RCV002247465] |
Chr2:165991405 [GRCh38]
Chr2:166847915 [GRCh37]
Chr2:2q24.3 |
pathogenic|benign|likely benign|conflicting interpretations of pathogenicity|uncertain significance|not provided |
| NM_001165963.4(SCN1A):c.755T>A (p.Ile252Asn) |
single nucleotide variant |
Severe myoclonic epilepsy in infancy [RCV000059552]|not provided [RCV001569540] |
Chr2:166051928 [GRCh38]
Chr2:166908438 [GRCh37]
Chr2:2q24.3 |
pathogenic|not provided |
| NM_001165963.4(SCN1A):c.777C>A (p.Ser259Arg) |
single nucleotide variant |
Seizure [RCV000678837]|Severe myoclonic epilepsy in infancy [RCV000059553] |
Chr2:166051906 [GRCh38]
Chr2:166908416 [GRCh37]
Chr2:2q24.3 |
pathogenic|likely pathogenic|not provided |
| NM_001165963.4(SCN1A):c.793G>T (p.Gly265Trp) |
single nucleotide variant |
Severe myoclonic epilepsy in infancy [RCV000059554] |
Chr2:166051890 [GRCh38]
Chr2:166908400 [GRCh37]
Chr2:2q24.3 |
not provided |
| NM_001165963.4(SCN1A):c.890C>T (p.Thr297Ile) |
single nucleotide variant |
Early infantile epileptic encephalopathy with suppression bursts [RCV001393043]|Generalized epilepsy with febrile seizures plus, type 2 [RCV001129823]|Migraine, familial hemiplegic, 3 [RCV001129824]|Severe myoclonic epilepsy in infancy [RCV000059555]|not provided [RCV000997286] |
Chr2:166051793 [GRCh38]
Chr2:166908303 [GRCh37]
Chr2:2q24.3 |
likely benign|uncertain significance|not provided |
| NM_001165963.4(SCN1A):c.5176T>C (p.Trp1726Arg) |
single nucleotide variant |
Severe myoclonic epilepsy in infancy [RCV000059813] |
Chr2:165992099 [GRCh38]
Chr2:166848609 [GRCh37]
Chr2:2q24.3 |
not provided |
| NM_006920.4(SCN1A):c.5977G>A (p.Glu1993Lys) |
single nucleotide variant |
Malignant melanoma [RCV000060372] |
Chr2:165991265 [GRCh38]
Chr2:166847775 [GRCh37]
Chr2:166556021 [NCBI36]
Chr2:2q24.3 |
not provided |
| NM_001165963.4(SCN1A):c.4547C>T (p.Ser1516Leu) |
single nucleotide variant |
Early infantile epileptic encephalopathy with suppression bursts [RCV000702992]|SCN1A-related condition [RCV003398652]|Severe myoclonic epilepsy in infancy [RCV000209885]|not provided [RCV000494091] |
Chr2:165996047 [GRCh38]
Chr2:166852557 [GRCh37]
Chr2:166560803 [NCBI36]
Chr2:2q24.3 |
pathogenic|likely pathogenic|likely benign|uncertain significance|not provided |
| NM_001165963.4(SCN1A):c.3937A>C (p.Lys1313Gln) |
single nucleotide variant |
Early infantile epileptic encephalopathy with suppression bursts [RCV001304935] |
Chr2:166009784 [GRCh38]
Chr2:166866294 [GRCh37]
Chr2:166574540 [NCBI36]
Chr2:2q24.3 |
uncertain significance|not provided |
| NM_006920.4(SCN1A):c.3072A>T (p.Gln1024His) |
single nucleotide variant |
Malignant melanoma [RCV000060376] |
Chr2:166036372 [GRCh38]
Chr2:166892882 [GRCh37]
Chr2:166601128 [NCBI36]
Chr2:2q24.3 |
not provided |
| NM_006920.4(SCN1A):c.978C>T (p.Phe326=) |
single nucleotide variant |
Malignant melanoma [RCV000060377] |
Chr2:166048936 [GRCh38]
Chr2:166905446 [GRCh37]
Chr2:166613692 [NCBI36]
Chr2:2q24.3 |
not provided |
| NM_006920.4(SCN1A):c.3810C>T (p.Thr1270=) |
single nucleotide variant |
Malignant melanoma [RCV000065160] |
Chr2:166012145 [GRCh38]
Chr2:166868655 [GRCh37]
Chr2:166576901 [NCBI36]
Chr2:2q24.3 |
not provided |
| NM_006920.4(SCN1A):c.3694G>A (p.Asp1232Asn) |
single nucleotide variant |
Malignant melanoma [RCV000065161] |
Chr2:166012261 [GRCh38]
Chr2:166868771 [GRCh37]
Chr2:166577017 [NCBI36]
Chr2:2q24.3 |
not provided |
| NM_006920.4(SCN1A):c.3517G>A (p.Gly1173Ser) |
single nucleotide variant |
Malignant melanoma [RCV000065162] |
Chr2:166015607 [GRCh38]
Chr2:166872117 [GRCh37]
Chr2:166580363 [NCBI36]
Chr2:2q24.3 |
not provided |
| NM_001165963.4(SCN1A):c.2769C>T (p.Ile923=) |
single nucleotide variant |
not specified [RCV000420652] |
Chr2:166037953 [GRCh38]
Chr2:166894463 [GRCh37]
Chr2:166602709 [NCBI36]
Chr2:2q24.3 |
likely benign|not provided |
| NM_006920.4(SCN1A):c.1188G>A (p.Gly396=) |
single nucleotide variant |
Malignant melanoma [RCV000065164] |
Chr2:166046959 [GRCh38]
Chr2:166903469 [GRCh37]
Chr2:166611715 [NCBI36]
Chr2:2q24.3 |
not provided |
| NM_001165963.4(SCN1A):c.1006T>G (p.Cys336Gly) |
single nucleotide variant |
not provided [RCV000079549] |
Chr2:166048908 [GRCh38]
Chr2:166905418 [GRCh37]
Chr2:2q24.3 |
uncertain significance |
| NM_001165963.4(SCN1A):c.1029-1G>C |
single nucleotide variant |
not provided [RCV000079550] |
Chr2:166047769 [GRCh38]
Chr2:166904279 [GRCh37]
Chr2:2q24.3 |
pathogenic |
| NM_001165963.4(SCN1A):c.1131A>C (p.Arg377=) |
single nucleotide variant |
Early infantile epileptic encephalopathy with suppression bursts [RCV001080015]|Epilepsy [RCV000286506]|Generalized epilepsy with febrile seizures plus, type 2 [RCV001129821]|Inborn genetic diseases [RCV002313758]|Migraine, familial hemiplegic, 3 [RCV000341456]|not provided [RCV000470130]|not specified [RCV000173037] |
Chr2:166047666 [GRCh38]
Chr2:166904176 [GRCh37]
Chr2:2q24.3 |
benign|likely benign|conflicting interpretations of pathogenicity|uncertain significance|conflicting data from submitters |
| NM_001165963.4(SCN1A):c.1162del (p.Tyr388fs) |
deletion |
not provided [RCV000180210] |
Chr2:166047635 [GRCh38]
Chr2:166904145 [GRCh37]
Chr2:2q24.3 |
pathogenic |
| NM_001165963.4(SCN1A):c.1171-10_1171-9del |
deletion |
Early infantile epileptic encephalopathy with suppression bursts [RCV000195838]|Epilepsy [RCV000380997]|Familial hemiplegic migraine [RCV000326892]|not specified [RCV000079553] |
Chr2:166046985..166046986 [GRCh38]
Chr2:166903495..166903496 [GRCh37]
Chr2:2q24.3 |
likely pathogenic|benign|likely benign |
| NM_001165963.4(SCN1A):c.1220T>C (p.Ile407Thr) |
single nucleotide variant |
Early infantile epileptic encephalopathy with suppression bursts [RCV000706938]|not provided [RCV000079555] |
Chr2:166046927 [GRCh38]
Chr2:166903437 [GRCh37]
Chr2:2q24.3 |
likely pathogenic|conflicting interpretations of pathogenicity|uncertain significance |
| NM_001165963.4(SCN1A):c.135C>T (p.Asp45=) |
single nucleotide variant |
Early infantile epileptic encephalopathy with suppression bursts [RCV001395407]|not provided [RCV000079556] |
Chr2:166073487 [GRCh38]
Chr2:166929997 [GRCh37]
Chr2:2q24.3 |
likely benign|conflicting interpretations of pathogenicity|uncertain significance |
| NM_001165963.4(SCN1A):c.1484A>G (p.Lys495Arg) |
single nucleotide variant |
not provided [RCV000079557] |
Chr2:166045221 [GRCh38]
Chr2:166901731 [GRCh37]
Chr2:2q24.3 |
uncertain significance |
| NM_001165963.4(SCN1A):c.1662+7C>G |
single nucleotide variant |
not provided [RCV000079558] |
Chr2:166045036 [GRCh38]
Chr2:166901546 [GRCh37]
Chr2:2q24.3 |
uncertain significance |
| NM_001165963.4(SCN1A):c.1662+9C>A |
single nucleotide variant |
Early infantile epileptic encephalopathy with suppression bursts [RCV000462995]|Epilepsy [RCV000369681]|Generalized epilepsy with febrile seizures plus, type 2 [RCV001133334]|Migraine, familial hemiplegic, 3 [RCV000333844]|not specified [RCV000079559] |
Chr2:166045034 [GRCh38]
Chr2:166901544 [GRCh37]
Chr2:2q24.3 |
benign|likely benign |
| NM_001165963.4(SCN1A):c.1766A>T (p.Asp589Val) |
single nucleotide variant |
not provided [RCV000079560] |
Chr2:166043946 [GRCh38]
Chr2:166900456 [GRCh37]
Chr2:2q24.3 |
likely pathogenic |
| NM_001165963.4(SCN1A):c.1837C>T (p.Arg613Ter) |
single nucleotide variant |
Early infantile epileptic encephalopathy with suppression bursts [RCV000557283]|Migraine, familial hemiplegic, 3 [RCV000515441]|Severe myoclonic epilepsy in infancy [RCV000174048]|not provided [RCV000255527] |
Chr2:166043875 [GRCh38]
Chr2:166900385 [GRCh37]
Chr2:2q24.3 |
pathogenic |
| NM_001165963.4(SCN1A):c.1948G>A (p.Val650Met) |
single nucleotide variant |
Early infantile epileptic encephalopathy with suppression bursts [RCV000810488]|not provided [RCV000723653] |
Chr2:166043764 [GRCh38]
Chr2:166900274 [GRCh37]
Chr2:2q24.3 |
uncertain significance |
| NM_001165963.4(SCN1A):c.2176+17A>G |
single nucleotide variant |
Early infantile epileptic encephalopathy with suppression bursts [RCV002055122]|not provided [RCV001795089]|not specified [RCV000079564] |
Chr2:166042275 [GRCh38]
Chr2:166898785 [GRCh37]
Chr2:2q24.3 |
benign|likely benign |
| NM_001165963.4(SCN1A):c.2416-4T>G |
single nucleotide variant |
Early infantile epileptic encephalopathy with suppression bursts [RCV000822837]|not specified [RCV000079566] |
Chr2:166039600 [GRCh38]
Chr2:166896110 [GRCh37]
Chr2:2q24.3 |
benign|likely benign|uncertain significance |
| NM_001165963.4(SCN1A):c.2576G>A (p.Arg859His) |
single nucleotide variant |
Autosomal dominant epilepsy [RCV000781835]|Early infantile epileptic encephalopathy with suppression bursts [RCV000546041]|Generalized epilepsy with febrile seizures plus, type 2 [RCV002247477]|SCN1A-related condition [RCV003398671]|Seizure [RCV002274894]|not provided [RCV000255810] |
Chr2:166039436 [GRCh38]
Chr2:166895946 [GRCh37]
Chr2:2q24.3 |
pathogenic|uncertain significance |
| NM_001165963.4(SCN1A):c.2716G>A (p.Val906Met) |
single nucleotide variant |
Early infantile epileptic encephalopathy with suppression bursts [RCV000686144]|not provided [RCV000188894] |
Chr2:166038006 [GRCh38]
Chr2:166894516 [GRCh37]
Chr2:2q24.3 |
likely benign|uncertain significance |
| NM_001165963.4(SCN1A):c.2816A>G (p.His939Arg) |
single nucleotide variant |
not provided [RCV000079569] |
Chr2:166037906 [GRCh38]
Chr2:166894416 [GRCh37]
Chr2:2q24.3 |
uncertain significance |
| NM_001165963.4(SCN1A):c.2889T>C (p.Ala963=) |
single nucleotide variant |
Early infantile epileptic encephalopathy with suppression bursts [RCV001084539]|Epilepsy [RCV000268171]|Generalized epilepsy with febrile seizures plus, type 2 [RCV001133245]|Inborn genetic diseases [RCV002313759]|Migraine, familial hemiplegic, 3 [RCV000306839]|SCN1A-related condition [RCV003925048]|not provided [RCV000118241]|not specified [RCV000079570] |
Chr2:166037833 [GRCh38]
Chr2:166894343 [GRCh37]
Chr2:2q24.3 |
benign|likely benign|uncertain significance |
| NM_001165963.4(SCN1A):c.345T>C (p.Asn115=) |
single nucleotide variant |
Early infantile epileptic encephalopathy with suppression bursts [RCV000461530]|Epilepsy [RCV000353361]|Generalized epilepsy with febrile seizures plus, type 2 [RCV001132519]|Inborn genetic diseases [RCV002311583]|Migraine, familial hemiplegic, 3 [RCV000298081]|not provided [RCV001610359]|not specified [RCV000079573] |
Chr2:166058608 [GRCh38]
Chr2:166915118 [GRCh37]
Chr2:2q24.3 |
benign|likely benign|conflicting interpretations of pathogenicity|conflicting data from submitters |
| NM_001165963.4(SCN1A):c.3646G>A (p.Glu1216Lys) |
single nucleotide variant |
not provided [RCV000079575] |
Chr2:166013803 [GRCh38]
Chr2:166870313 [GRCh37]
Chr2:2q24.3 |
likely pathogenic |
| NM_001165963.4(SCN1A):c.3776T>C (p.Phe1259Ser) |
single nucleotide variant |
Early infantile epileptic encephalopathy with suppression bursts [RCV000701047]|Inborn genetic diseases [RCV002345392]|not provided [RCV000079577]|not specified [RCV003155068] |
Chr2:166012212 [GRCh38]
Chr2:166868722 [GRCh37]
Chr2:2q24.3 |
pathogenic|likely pathogenic|conflicting interpretations of pathogenicity|uncertain significance |
| NM_001165963.4(SCN1A):c.3804T>C (p.Leu1268=) |
single nucleotide variant |
Early infantile epileptic encephalopathy with suppression bursts [RCV001522306]|Generalized epilepsy with febrile seizures plus, type 2 [RCV001133135]|Inborn genetic diseases [RCV002362725]|Migraine, familial hemiplegic, 3 [RCV001133134]|not specified [RCV000173029] |
Chr2:166012184 [GRCh38]
Chr2:166868694 [GRCh37]
Chr2:2q24.3 |
benign|likely benign|conflicting interpretations of pathogenicity|uncertain significance|conflicting data from submitters |
| NM_001165963.4(SCN1A):c.3817G>C (p.Ala1273Pro) |
single nucleotide variant |
Early infantile epileptic encephalopathy with suppression bursts [RCV003753084]|not provided [RCV000079579] |
Chr2:166012171 [GRCh38]
Chr2:166868681 [GRCh37]
Chr2:2q24.3 |
likely pathogenic|conflicting interpretations of pathogenicity|uncertain significance |
| NM_001165963.4(SCN1A):c.384-20G>C |
single nucleotide variant |
Early infantile epileptic encephalopathy with suppression bursts [RCV000860720]|SCN1A-related condition [RCV003891547]|not provided [RCV002055123]|not specified [RCV000079580] |
Chr2:166056520 [GRCh38]
Chr2:166913030 [GRCh37]
Chr2:2q24.3 |
benign|likely benign |
| NM_001165963.4(SCN1A):c.4219C>T (p.Arg1407Ter) |
single nucleotide variant |
Early infantile epileptic encephalopathy with suppression bursts [RCV000636415]|Inborn genetic diseases [RCV002316233]|Severe myoclonic epilepsy in infancy [RCV001509554]|not provided [RCV000079581] |
Chr2:166002537 [GRCh38]
Chr2:166859047 [GRCh37]
Chr2:2q24.3 |
pathogenic |
| NM_001165963.4(SCN1A):c.4242C>G (p.Asn1414Lys) |
single nucleotide variant |
not provided [RCV000079582] |
Chr2:166002514 [GRCh38]
Chr2:166859024 [GRCh37]
Chr2:2q24.3 |
uncertain significance |
| NM_001165963.4(SCN1A):c.4284+2T>C |
single nucleotide variant |
not provided [RCV000657892] |
Chr2:166002470 [GRCh38]
Chr2:166858980 [GRCh37]
Chr2:2q24.3 |
pathogenic |
| NM_001165963.4(SCN1A):c.4446C>T (p.Ile1482=) |
single nucleotide variant |
Early infantile epileptic encephalopathy with suppression bursts [RCV001463415]|not provided [RCV000079584] |
Chr2:165998068 [GRCh38]
Chr2:166854578 [GRCh37]
Chr2:2q24.3 |
likely benign|uncertain significance |
| NM_001165963.4(SCN1A):c.4584C>A (p.Asn1528Lys) |
single nucleotide variant |
Early infantile epileptic encephalopathy with suppression bursts [RCV001854405]|not provided [RCV000723573] |
Chr2:165994414 [GRCh38]
Chr2:166850924 [GRCh37]
Chr2:2q24.3 |
pathogenic|uncertain significance |
| NM_001165963.4(SCN1A):c.4667T>A (p.Val1556Asp) |
single nucleotide variant |
not provided [RCV000079586] |
Chr2:165994331 [GRCh38]
Chr2:166850841 [GRCh37]
Chr2:2q24.3 |
uncertain significance |
| NM_001165963.4(SCN1A):c.4731T>C (p.Asn1577=) |
single nucleotide variant |
Early infantile epileptic encephalopathy with suppression bursts [RCV000528820]|Epilepsy [RCV000262326]|Generalized epilepsy with febrile seizures plus, type 2 [RCV001129477]|Inborn genetic diseases [RCV002316234]|Migraine, familial hemiplegic, 3 [RCV000301218]|not provided [RCV001311212]|not specified [RCV000186657] |
Chr2:165994267 [GRCh38]
Chr2:166850777 [GRCh37]
Chr2:2q24.3 |
benign|likely benign|conflicting interpretations of pathogenicity|uncertain significance|conflicting data from submitters |
| NM_001165963.4(SCN1A):c.5141T>C (p.Met1714Thr) |
single nucleotide variant |
Severe myoclonic epilepsy in infancy [RCV001823112]|not provided [RCV000079588] |
Chr2:165992134 [GRCh38]
Chr2:166848644 [GRCh37]
Chr2:2q24.3 |
likely pathogenic|uncertain significance |
| NM_001165963.4(SCN1A):c.5418G>A (p.Glu1806=) |
single nucleotide variant |
Early infantile epileptic encephalopathy with suppression bursts [RCV000233940]|Epilepsy [RCV000390483]|Generalized epilepsy with febrile seizures plus, type 2 [RCV001136464]|Inborn genetic diseases [RCV002311584]|Migraine, familial hemiplegic, 3 [RCV000312763]|not provided [RCV001725964]|not specified [RCV000079589] |
Chr2:165991857 [GRCh38]
Chr2:166848367 [GRCh37]
Chr2:2q24.3 |
benign|likely benign|conflicting interpretations of pathogenicity|conflicting data from submitters |
| NM_001165963.4(SCN1A):c.5539del (p.Leu1847fs) |
deletion |
not provided [RCV000176630] |
Chr2:165991736 [GRCh38]
Chr2:166848246 [GRCh37]
Chr2:2q24.3 |
pathogenic |
| NM_001165963.4(SCN1A):c.5782C>T (p.Arg1928Cys) |
single nucleotide variant |
Early infantile epileptic encephalopathy with suppression bursts [RCV001373680]|not provided [RCV000079591] |
Chr2:165991493 [GRCh38]
Chr2:166848003 [GRCh37]
Chr2:2q24.3 |
uncertain significance |
| NM_001165963.4(SCN1A):c.5864T>C (p.Ile1955Thr) |
single nucleotide variant |
Early infantile epileptic encephalopathy with suppression bursts [RCV001082156]|Epilepsy [RCV000344701]|Generalized epilepsy with febrile seizures plus, type 2 [RCV001133025]|Inborn genetic diseases [RCV002311585]|Migraine, familial hemiplegic, 3 [RCV000395905]|not provided [RCV000224940]|not specified [RCV000079592] |
Chr2:165991411 [GRCh38]
Chr2:166847921 [GRCh37]
Chr2:2q24.3 |
benign|likely benign |
| NM_001165963.4(SCN1A):c.5951C>A (p.Pro1984His) |
single nucleotide variant |
Early infantile epileptic encephalopathy with suppression bursts [RCV001080157]|Inborn genetic diseases [RCV002313760]|Migraine, familial hemiplegic, 3 [RCV000764282]|SCN1A-related condition [RCV003952499]|Seizure [RCV001281471]|not provided [RCV000723619] |
Chr2:165991324 [GRCh38]
Chr2:166847834 [GRCh37]
Chr2:2q24.3 |
benign|likely benign|conflicting interpretations of pathogenicity|uncertain significance |
| NM_001165963.4(SCN1A):c.597A>G (p.Thr199=) |
single nucleotide variant |
Early infantile epileptic encephalopathy with suppression bursts [RCV001434038]|not provided [RCV000079594] |
Chr2:166054643 [GRCh38]
Chr2:166911153 [GRCh37]
Chr2:2q24.3 |
likely benign|conflicting interpretations of pathogenicity|uncertain significance |
| NM_001165963.4(SCN1A):c.694+10A>G |
single nucleotide variant |
Early infantile epileptic encephalopathy with suppression bursts [RCV001082385]|not provided [RCV000723543]|not specified [RCV000188813] |
Chr2:166052842 [GRCh38]
Chr2:166909352 [GRCh37]
Chr2:2q24.3 |
benign|likely benign|conflicting interpretations of pathogenicity|uncertain significance |
| NM_001165963.4(SCN1A):c.83G>A (p.Arg28His) |
single nucleotide variant |
Early infantile epileptic encephalopathy with suppression bursts [RCV001854406]|Generalized epilepsy with febrile seizures plus, type 2 [RCV001133439]|Migraine, familial hemiplegic, 3 [RCV001133438]|SCN1A-related conditions [RCV001729382]|not provided [RCV000079597] |
Chr2:166073539 [GRCh38]
Chr2:166930049 [GRCh37]
Chr2:2q24.3 |
likely pathogenic|uncertain significance |
| NM_001202435.1(SCN1A):c.-142+8134A>G |
single nucleotide variant |
Lung cancer [RCV000091638] |
Chr2:166140913 [GRCh38]
Chr2:166997423 [GRCh37]
Chr2:2q24.3 |
uncertain significance |
| NM_001165963.4(SCN1A):c.4887C>T (p.Phe1629=) |
single nucleotide variant |
Early infantile epileptic encephalopathy with suppression bursts [RCV001505725]|Inborn genetic diseases [RCV002336256]|not provided [RCV000118237]|not specified [RCV000247803] |
Chr2:165992388 [GRCh38]
Chr2:166848898 [GRCh37]
Chr2:2q24.3 |
benign|likely benign|conflicting interpretations of pathogenicity|uncertain significance |
| NM_001165963.4(SCN1A):c.5797del (p.Arg1933fs) |
deletion |
Early infantile epileptic encephalopathy with suppression bursts [RCV000469582]|Generalized epilepsy with febrile seizures plus, type 2 [RCV000118238]|not provided [RCV000520766] |
Chr2:165991478 [GRCh38]
Chr2:166847988 [GRCh37]
Chr2:2q24.3 |
pathogenic|uncertain significance |
| NM_001165963.4(SCN1A):c.756C>T (p.Ile252=) |
single nucleotide variant |
not provided [RCV000118243] |
Chr2:166051927 [GRCh38]
Chr2:166908437 [GRCh37]
Chr2:2q24.3 |
uncertain significance |
| NM_001165963.4(SCN1A):c.3705+17A>G |
single nucleotide variant |
not specified [RCV000603319] |
Chr2:166013727 [GRCh38]
Chr2:166870237 [GRCh37]
Chr2:2q24.3 |
likely benign |
| NM_001165963.4(SCN1A):c.2668C>T (p.Leu890=) |
single nucleotide variant |
not specified [RCV000602814] |
Chr2:166038054 [GRCh38]
Chr2:166894564 [GRCh37]
Chr2:2q24.3 |
likely benign |
| NM_001165963.4(SCN1A):c.2145T>G (p.Ser715Arg) |
single nucleotide variant |
not provided [RCV003223962] |
Chr2:166042323 [GRCh38]
Chr2:166898833 [GRCh37]
Chr2:2q24.3 |
uncertain significance |
| NM_001165963.4(SCN1A):c.4002+1G>T |
single nucleotide variant |
Generalized epilepsy with febrile seizures plus, type 2 [RCV001528184]|Severe myoclonic epilepsy in infancy [RCV001253084]|not provided [RCV001507579] |
Chr2:166009718 [GRCh38]
Chr2:166866228 [GRCh37]
Chr2:2q24.3 |
pathogenic|likely pathogenic |
| NM_001165963.4(SCN1A):c.4581+18A>G |
single nucleotide variant |
Severe myoclonic epilepsy in infancy [RCV001253126] |
Chr2:165995995 [GRCh38]
Chr2:166852505 [GRCh37]
Chr2:2q24.3 |
likely pathogenic |
| NM_001165963.4(SCN1A):c.333A>G (p.Leu111=) |
single nucleotide variant |
Early infantile epileptic encephalopathy with suppression bursts [RCV001452799]|Epilepsy [RCV000390078]|Generalized epilepsy with febrile seizures plus, type 2 [RCV001133437]|Migraine, familial hemiplegic, 3 [RCV000313741]|not provided [RCV003430696]|not specified [RCV000127871] |
Chr2:166058620 [GRCh38]
Chr2:166915130 [GRCh37]
Chr2:2q24.3 |
benign|likely benign|uncertain significance |
| NM_001165963.4(SCN1A):c.1377+10C>T |
single nucleotide variant |
Early infantile epileptic encephalopathy with suppression bursts [RCV000546421]|not specified [RCV000180564] |
Chr2:166046760 [GRCh38]
Chr2:166903270 [GRCh37]
Chr2:2q24.3 |
benign |
| NM_001165963.4(SCN1A):c.1378-3T>C |
single nucleotide variant |
Early infantile epileptic encephalopathy with suppression bursts [RCV000469921]|Generalized epilepsy with febrile seizures plus, type 2 [RCV001134810]|Inborn genetic diseases [RCV002316401]|Migraine, familial hemiplegic, 3 [RCV001134809]|SCN1A-related condition [RCV003975130]|not provided [RCV001529594]|not specified [RCV000127874] |
Chr2:166045330 [GRCh38]
Chr2:166901840 [GRCh37]
Chr2:2q24.3 |
benign|likely benign|conflicting interpretations of pathogenicity|uncertain significance |
| NM_001165963.4(SCN1A):c.1539A>G (p.Glu513=) |
single nucleotide variant |
Early infantile epileptic encephalopathy with suppression bursts [RCV001511348]|SCN1A-related condition [RCV003965067]|not provided [RCV000860556]|not specified [RCV000127875] |
Chr2:166045166 [GRCh38]
Chr2:166901676 [GRCh37]
Chr2:2q24.3 |
benign|likely benign |
| NM_001165963.4(SCN1A):c.2292T>A (p.Val764=) |
single nucleotide variant |
Early infantile epileptic encephalopathy with suppression bursts [RCV001849911]|not specified [RCV000127878] |
Chr2:166041354 [GRCh38]
Chr2:166897864 [GRCh37]
Chr2:2q24.3 |
benign|uncertain significance |
| NM_001165963.4(SCN1A):c.3330T>C (p.Ser1110=) |
single nucleotide variant |
Early infantile epileptic encephalopathy with suppression bursts [RCV001399678]|not specified [RCV000127880] |
Chr2:166036147 [GRCh38]
Chr2:166892657 [GRCh37]
Chr2:2q24.3 |
benign|likely benign |
| NM_001165963.4(SCN1A):c.3498G>A (p.Gln1166=) |
single nucleotide variant |
Early infantile epileptic encephalopathy with suppression bursts [RCV002055788]|Generalized epilepsy with febrile seizures plus, type 2 [RCV001129581]|Migraine, familial hemiplegic, 3 [RCV001129580]|not specified [RCV000127881] |
Chr2:166015659 [GRCh38]
Chr2:166872169 [GRCh37]
Chr2:2q24.3 |
benign|likely benign|uncertain significance |
| NM_001165963.4(SCN1A):c.3550+11G>T |
single nucleotide variant |
Early infantile epileptic encephalopathy with suppression bursts [RCV002055789]|not specified [RCV000127882] |
Chr2:166015596 [GRCh38]
Chr2:166872106 [GRCh37]
Chr2:2q24.3 |
benign |
| NM_001165963.4(SCN1A):c.3886T>C (p.Leu1296=) |
single nucleotide variant |
Early infantile epileptic encephalopathy with suppression bursts [RCV000636538]|Inborn genetic diseases [RCV002316402]|SCN1A-related condition [RCV003915270]|not specified [RCV000127884] |
Chr2:166009835 [GRCh38]
Chr2:166866345 [GRCh37]
Chr2:2q24.3 |
benign|likely benign |
| NM_001165963.4(SCN1A):c.3948G>A (p.Arg1316=) |
single nucleotide variant |
Early infantile epileptic encephalopathy with suppression bursts [RCV000532790]|Inborn genetic diseases [RCV002316403]|SCN1A-related condition [RCV003925266]|not provided [RCV003430697]|not specified [RCV000127885] |
Chr2:166009773 [GRCh38]
Chr2:166866283 [GRCh37]
Chr2:2q24.3 |
benign|likely benign|conflicting interpretations of pathogenicity |
| NM_001165963.4(SCN1A):c.4386C>T (p.Tyr1462=) |
single nucleotide variant |
Early infantile epileptic encephalopathy with suppression bursts [RCV001466889]|not specified [RCV000127886] |
Chr2:165998128 [GRCh38]
Chr2:166854638 [GRCh37]
Chr2:2q24.3 |
benign|likely benign |
| NM_001165963.4(SCN1A):c.4393A>G (p.Ile1465Val) |
single nucleotide variant |
Early infantile epileptic encephalopathy with suppression bursts [RCV000457065]|Inborn genetic diseases [RCV002316404]|not specified [RCV000153886] |
Chr2:165998121 [GRCh38]
Chr2:166854631 [GRCh37]
Chr2:2q24.3 |
benign|likely benign |
| NM_001165963.4(SCN1A):c.4506A>G (p.Glu1502=) |
single nucleotide variant |
not specified [RCV000127888] |
Chr2:165996088 [GRCh38]
Chr2:166852598 [GRCh37]
Chr2:2q24.3 |
benign |
| NM_001165963.4(SCN1A):c.4548G>A (p.Ser1516=) |
single nucleotide variant |
Early infantile epileptic encephalopathy with suppression bursts [RCV000636455]|Inborn genetic diseases [RCV002312925]|not specified [RCV000176466] |
Chr2:165996046 [GRCh38]
Chr2:166852556 [GRCh37]
Chr2:2q24.3 |
benign|likely benign|conflicting interpretations of pathogenicity |
| NM_001165963.4(SCN1A):c.4557G>A (p.Pro1519=) |
single nucleotide variant |
Early infantile epileptic encephalopathy with suppression bursts [RCV001436209]|Generalized epilepsy with febrile seizures plus, type 2 [RCV001132197]|Inborn genetic diseases [RCV002312926]|Migraine, familial hemiplegic, 3 [RCV001132198]|SCN1A-related condition [RCV003965068]|not provided [RCV000636510]|not specified [RCV000127890] |
Chr2:165996037 [GRCh38]
Chr2:166852547 [GRCh37]
Chr2:2q24.3 |
benign|likely benign|uncertain significance |
| NM_001165963.4(SCN1A):c.4872G>A (p.Leu1624=) |
single nucleotide variant |
Early infantile epileptic encephalopathy with suppression bursts [RCV001084098]|Generalized epilepsy with febrile seizures plus, type 2 [RCV001129475]|Inborn genetic diseases [RCV002312927]|Migraine, familial hemiplegic, 3 [RCV001129476]|not provided [RCV000723902]|not specified [RCV000186658] |
Chr2:165992403 [GRCh38]
Chr2:166848913 [GRCh37]
Chr2:2q24.3 |
benign|likely benign|conflicting interpretations of pathogenicity|uncertain significance|conflicting data from submitters |
| NM_001165963.4(SCN1A):c.5356C>T (p.Leu1786=) |
single nucleotide variant |
not specified [RCV000127892] |
Chr2:165991919 [GRCh38]
Chr2:166848429 [GRCh37]
Chr2:2q24.3 |
benign |
| NM_001165963.4(SCN1A):c.5766T>C (p.Ile1922=) |
single nucleotide variant |
Early infantile epileptic encephalopathy with suppression bursts [RCV001415223]|not specified [RCV000127894] |
Chr2:165991509 [GRCh38]
Chr2:166848019 [GRCh37]
Chr2:2q24.3 |
benign|likely benign |
| NM_001165963.4(SCN1A):c.2214G>A (p.Trp738Ter) |
single nucleotide variant |
Generalized epilepsy with febrile seizures plus, type 2 [RCV000170444]|Severe myoclonic epilepsy in infancy [RCV002288778]|not provided [RCV000438487] |
Chr2:166041432 [GRCh38]
Chr2:166897942 [GRCh37]
Chr2:2q24.3 |
pathogenic |
| NM_001165963.4(SCN1A):c.3706-1G>C |
single nucleotide variant |
Early infantile epileptic encephalopathy with suppression bursts [RCV001229030] |
Chr2:166012283 [GRCh38]
Chr2:166868793 [GRCh37]
Chr2:2q24.3 |
pathogenic |
| NM_001165963.4(SCN1A):c.3327dup (p.Ser1110fs) |
duplication |
Hypertelorism [RCV000735399]|See cases [RCV003156129] |
Chr2:166036149..166036150 [GRCh38]
Chr2:166892659..166892660 [GRCh37]
Chr2:2q24.3 |
pathogenic |
| NM_001165963.4(SCN1A):c.2134C>T (p.Arg712Ter) |
single nucleotide variant |
Autosomal dominant epilepsy [RCV001824659]|Developmental and epileptic encephalopathy, 1 [RCV001527645]|Early infantile epileptic encephalopathy with suppression bursts [RCV000534243]|Generalized epilepsy with febrile seizures plus, type 2 [RCV001004670]|Inborn genetic diseases [RCV002515207]|SCN1A-related condition [RCV003927568]|Severe myoclonic epilepsy in infancy [RCV000174291]|not provided [RCV000188886] |
Chr2:166042334 [GRCh38]
Chr2:166898844 [GRCh37]
Chr2:2q24.3 |
pathogenic |
| NM_001165963.4(SCN1A):c.622G>A (p.Asp208Asn) |
single nucleotide variant |
Early infantile epileptic encephalopathy with suppression bursts [RCV001302641] |
Chr2:166052924 [GRCh38]
Chr2:166909434 [GRCh37]
Chr2:2q24.3 |
uncertain significance |
| NM_001165963.4(SCN1A):c.2421C>T (p.Phe807=) |
single nucleotide variant |
Early infantile epileptic encephalopathy with suppression bursts [RCV000233844]|Epilepsy [RCV000329105]|Generalized epilepsy with febrile seizures plus, type 2 [RCV001134709]|Inborn genetic diseases [RCV002312708]|Migraine, familial hemiplegic, 3 [RCV000386111]|not provided [RCV002274935]|not specified [RCV000174712] |
Chr2:166039591 [GRCh38]
Chr2:166896101 [GRCh37]
Chr2:2q24.3 |
benign|likely benign|conflicting interpretations of pathogenicity |
| NM_001165963.4(SCN1A):c.2584C>T (p.Arg862Ter) |
single nucleotide variant |
Early infantile epileptic encephalopathy with suppression bursts [RCV001850416]|Severe myoclonic epilepsy in infancy [RCV000174714]|not provided [RCV000174713] |
Chr2:166039428 [GRCh38]
Chr2:166895938 [GRCh37]
Chr2:2q24.3 |
pathogenic |
| NM_001165963.4(SCN1A):c.5221T>A (p.Cys1741Ser) |
single nucleotide variant |
Generalized epilepsy with febrile seizures plus, type 2 [RCV001004703] |
Chr2:165992054 [GRCh38]
Chr2:166848564 [GRCh37]
Chr2:2q24.3 |
likely pathogenic |
| NM_001165963.4(SCN1A):c.2686_2694del (p.Val896_Ala898del) |
deletion |
not provided [RCV000190445] |
Chr2:166038028..166038036 [GRCh38]
Chr2:166894538..166894546 [GRCh37]
Chr2:2q24.3 |
pathogenic |
| NM_001165963.4(SCN1A):c.5020_5025del (p.Gly1674_Leu1675del) |
deletion |
not provided [RCV000190446] |
Chr2:165992250..165992255 [GRCh38]
Chr2:166848760..166848765 [GRCh37]
Chr2:2q24.3 |
pathogenic |
| NM_001165963.4(SCN1A):c.5504_5512del (p.Leu1835_Pro1837del) |
deletion |
not provided [RCV000190447] |
Chr2:165991763..165991771 [GRCh38]
Chr2:166848273..166848281 [GRCh37]
Chr2:2q24.3 |
pathogenic |
| NM_001165963.4(SCN1A):c.5744_5748del (p.Glu1915fs) |
deletion |
not provided [RCV000190448] |
Chr2:165991527..165991531 [GRCh38]
Chr2:166848037..166848041 [GRCh37]
Chr2:2q24.3 |
pathogenic |
| NM_001165963.4(SCN1A):c.2946+2T>G |
single nucleotide variant |
not provided [RCV000190449] |
Chr2:166037774 [GRCh38]
Chr2:166894284 [GRCh37]
Chr2:2q24.3 |
pathogenic |
| NM_001165963.4(SCN1A):c.452C>T (p.Pro151Leu) |
single nucleotide variant |
Early infantile epileptic encephalopathy with suppression bursts [RCV001303262] |
Chr2:166056432 [GRCh38]
Chr2:166912942 [GRCh37]
Chr2:2q24.3 |
uncertain significance |
| NM_001165963.4(SCN1A):c.4224G>A (p.Trp1408Ter) |
single nucleotide variant |
Early infantile epileptic encephalopathy with suppression bursts [RCV001037904]|not provided [RCV000176175] |
Chr2:166002532 [GRCh38]
Chr2:166859042 [GRCh37]
Chr2:2q24.3 |
pathogenic |
| NM_001165963.4(SCN1A):c.4858T>C (p.Phe1620Leu) |
single nucleotide variant |
Early infantile epileptic encephalopathy with suppression bursts [RCV001312722] |
Chr2:165992417 [GRCh38]
Chr2:166848927 [GRCh37]
Chr2:2q24.3 |
likely pathogenic|uncertain significance |
| NM_001165963.4(SCN1A):c.830del (p.Cys277fs) |
deletion |
not provided [RCV000179375] |
Chr2:166051853 [GRCh38]
Chr2:166908363 [GRCh37]
Chr2:2q24.3 |
pathogenic |
| NM_001165963.4(SCN1A):c.602+1G>A |
single nucleotide variant |
Autism [RCV001003957]|Developmental and epileptic encephalopathy, 76 [RCV003338449]|Early infantile epileptic encephalopathy with suppression bursts [RCV001227678]|Focal impaired awareness seizure [RCV001290257]|Generalized epilepsy with febrile seizures plus, type 2 [RCV001004746]|Migraine, familial hemiplegic, 3 [RCV000768306]|Migraine, familial hemiplegic, 3 [RCV002281567]|Migraine, familial hemiplegic, 3 [RCV003224195]|Severe myoclonic epilepsy in infancy [RCV000178154]|not provided [RCV000188832] |
Chr2:166054637 [GRCh38]
Chr2:166911147 [GRCh37]
Chr2:2q24.3 |
pathogenic|conflicting interpretations of pathogenicity|uncertain significance |
| NM_001165963.4(SCN1A):c.6G>T (p.Glu2Asp) |
single nucleotide variant |
not provided [RCV000173230] |
Chr2:166073616 [GRCh38]
Chr2:166930126 [GRCh37]
Chr2:2q24.3 |
uncertain significance |
| NM_001165963.4(SCN1A):c.4013A>C (p.Asn1338Thr) |
single nucleotide variant |
Inborn genetic diseases [RCV000190804] |
Chr2:166002743 [GRCh38]
Chr2:166859253 [GRCh37]
Chr2:2q24.3 |
pathogenic |
| NM_001165963.4(SCN1A):c.4521C>G (p.Tyr1507Ter) |
single nucleotide variant |
Inborn genetic diseases [RCV000190807]|not provided [RCV001781566] |
Chr2:165996073 [GRCh38]
Chr2:166852583 [GRCh37]
Chr2:2q24.3 |
pathogenic |
| NM_001165963.4(SCN1A):c.1928G>A (p.Ser643Asn) |
single nucleotide variant |
Early infantile epileptic encephalopathy with suppression bursts [RCV002568276]|not provided [RCV001545535] |
Chr2:166043784 [GRCh38]
Chr2:166900294 [GRCh37]
Chr2:2q24.3 |
likely benign |
| NM_001165963.4(SCN1A):c.1468A>C (p.Ser490Arg) |
single nucleotide variant |
Developmental and epileptic encephalopathy 6B [RCV001807958] |
Chr2:166045237 [GRCh38]
Chr2:166901747 [GRCh37]
Chr2:2q24.3 |
uncertain significance |
| NC_000002.11:g.(?_165946640)_(167168286_?)dup |
duplication |
Early infantile epileptic encephalopathy with suppression bursts [RCV001308306]|Hereditary sensory and autonomic neuropathy type IIA [RCV001324549]|not provided [RCV001300704] |
Chr2:165946640..167168286 [GRCh37]
Chr2:2q24.3 |
uncertain significance |
| NM_001165963.4(SCN1A):c.2044_6030del |
deletion |
Severe myoclonic epilepsy in infancy [RCV000180806] |
|
pathogenic |
| NM_001165963.1(SCN1A):c.384_964del |
deletion |
Severe myoclonic epilepsy in infancy [RCV000180937] |
|
pathogenic |
| NM_001165963.1(SCN1A):c.4285_4476del |
deletion |
Severe myoclonic epilepsy in infancy [RCV000180951] |
|
pathogenic |
| NM_001165963.4(SCN1A):c.4338_6030del (p.Asn1446_Gly2008del) |
deletion |
Severe myoclonic epilepsy in infancy [RCV000180971] |
|
pathogenic |
| NM_001165963.4(SCN1A):c.1663_2176del (p.Ser555Asnfs*21) |
deletion |
Severe myoclonic epilepsy in infancy [RCV000180978] |
|
pathogenic |
| NM_001165963.4(SCN1A):c.384_1662dup |
duplication |
Severe myoclonic epilepsy in infancy [RCV000180983] |
|
pathogenic|likely pathogenic |
| NM_001165963.4(SCN1A):c.3136G>T (p.Asp1046Tyr) |
single nucleotide variant |
Early infantile epileptic encephalopathy with suppression bursts [RCV001312858] |
Chr2:166036341 [GRCh38]
Chr2:166892851 [GRCh37]
Chr2:2q24.3 |
uncertain significance |
| NM_001165963.4(SCN1A):c.3705+6T>C |
single nucleotide variant |
Early infantile epileptic encephalopathy with suppression bursts [RCV001302446]|not provided [RCV002280176] |
Chr2:166013738 [GRCh38]
Chr2:166870248 [GRCh37]
Chr2:2q24.3 |
uncertain significance |
| NM_001165963.4(SCN1A):c.2044-5dup |
duplication |
Early infantile epileptic encephalopathy with suppression bursts [RCV001080243]|not provided [RCV000824716]|not specified [RCV000190444] |
Chr2:166042428..166042429 [GRCh38]
Chr2:166898938..166898939 [GRCh37]
Chr2:2q24.3 |
benign|conflicting interpretations of pathogenicity|uncertain significance |
| NM_001165963.4(SCN1A):c.1889G>A (p.Arg630Gln) |
single nucleotide variant |
Early infantile epileptic encephalopathy with suppression bursts [RCV001244014]|Epilepsy [RCV000303863]|Generalized epilepsy with febrile seizures plus, type 2 [RCV001132418]|Migraine, familial hemiplegic, 3 [RCV000358377]|not provided [RCV000724592] |
Chr2:166043823 [GRCh38]
Chr2:166900333 [GRCh37]
Chr2:2q24.3 |
likely benign|conflicting interpretations of pathogenicity|uncertain significance |
| NM_001165963.4(SCN1A):c.2043+6_2043+9del |
deletion |
not provided [RCV000174046] |
Chr2:166043660..166043663 [GRCh38]
Chr2:166900170..166900173 [GRCh37]
Chr2:2q24.3 |
uncertain significance |
| NM_001165963.4(SCN1A):c.1703G>A (p.Arg568Gln) |
single nucleotide variant |
Early infantile epileptic encephalopathy with suppression bursts [RCV000636428]|not provided [RCV000174047] |
Chr2:166044009 [GRCh38]
Chr2:166900519 [GRCh37]
Chr2:2q24.3 |
pathogenic|likely pathogenic|uncertain significance |
| NM_001165963.4(SCN1A):c.2420dup (p.Thr808fs) |
duplication |
not provided [RCV000153897] |
Chr2:166039591..166039592 [GRCh38]
Chr2:166896101..166896102 [GRCh37]
Chr2:2q24.3 |
pathogenic |
| GRCh38/hg38 2q24.3(chr2:164920562-167536439)x3 |
copy number gain |
See cases [RCV000133953] |
Chr2:164920562..167536439 [GRCh38]
Chr2:165777072..168392949 [GRCh37]
Chr2:165485318..168101195 [NCBI36]
Chr2:2q24.3 |
pathogenic |
| NM_001165963.4(SCN1A):c.3176A>T (p.Asp1059Val) |
single nucleotide variant |
Early infantile epileptic encephalopathy with suppression bursts [RCV000795103]|not provided [RCV000724139] |
Chr2:166036301 [GRCh38]
Chr2:166892811 [GRCh37]
Chr2:2q24.3 |
likely benign|conflicting interpretations of pathogenicity|uncertain significance |
| NM_001165963.4(SCN1A):c.3060C>A (p.His1020Gln) |
single nucleotide variant |
Early infantile epileptic encephalopathy with suppression bursts [RCV000462390]|not provided [RCV000585632] |
Chr2:166036417 [GRCh38]
Chr2:166892927 [GRCh37]
Chr2:2q24.3 |
likely benign|conflicting interpretations of pathogenicity|uncertain significance |
| GRCh38/hg38 2q24.3(chr2:165542113-166137050)x3 |
copy number gain |
See cases [RCV000135461] |
Chr2:165542113..166137050 [GRCh38]
Chr2:166398623..166993560 [GRCh37]
Chr2:166106869..166701806 [NCBI36]
Chr2:2q24.3 |
uncertain significance |
| NM_001165963.4(SCN1A):c.3481G>A (p.Ala1161Thr) |
single nucleotide variant |
Early infantile epileptic encephalopathy with suppression bursts [RCV001444749]|Inborn genetic diseases [RCV002336423]|Migraine, familial hemiplegic, 3 [RCV000515245]|SCN1A-Related Disorders [RCV001132318]|not provided [RCV000724750]|not specified [RCV000188914] |
Chr2:166015676 [GRCh38]
Chr2:166872186 [GRCh37]
Chr2:2q24.3 |
benign|likely benign|conflicting interpretations of pathogenicity|uncertain significance |
| GRCh38/hg38 2q24.3(chr2:165888312-166185811)x1 |
copy number loss |
See cases [RCV000137068] |
Chr2:165888312..166185811 [GRCh38]
Chr2:166744822..167042321 [GRCh37]
Chr2:166453068..166750567 [NCBI36]
Chr2:2q24.3 |
pathogenic|uncertain significance |
| NM_001165963.4(SCN1A):c.3693T>C (p.Ser1231=) |
single nucleotide variant |
not provided [RCV000175285] |
Chr2:166013756 [GRCh38]
Chr2:166870266 [GRCh37]
Chr2:2q24.3 |
uncertain significance |
| GRCh38/hg38 2q24.3(chr2:165238425-166114982)x1 |
copy number loss |
See cases [RCV000141780] |
Chr2:165238425..166114982 [GRCh38]
Chr2:166094935..166971492 [GRCh37]
Chr2:165803181..166679738 [NCBI36]
Chr2:2q24.3 |
pathogenic |
| GRCh38/hg38 2q24.1-31.1(chr2:154294042-175989372)x3 |
copy number gain |
See cases [RCV000142286] |
Chr2:154294042..175989372 [GRCh38]
Chr2:155150555..176854100 [GRCh37]
Chr2:154858801..176562346 [NCBI36]
Chr2:2q24.1-31.1 |
pathogenic |
| GRCh38/hg38 2q24.3(chr2:165986097-166443535)x1 |
copy number loss |
See cases [RCV000142672] |
Chr2:165986097..166443535 [GRCh38]
Chr2:166842607..167300045 [GRCh37]
Chr2:166550853..167008291 [NCBI36]
Chr2:2q24.3 |
pathogenic |
| GRCh38/hg38 2q24.3(chr2:165222998-166664612)x1 |
copy number loss |
See cases [RCV000143388] |
Chr2:165222998..166664612 [GRCh38]
Chr2:166079508..167521122 [GRCh37]
Chr2:165787754..167229368 [NCBI36]
Chr2:2q24.3 |
pathogenic |
| NM_001165963.4(SCN1A):c.3733C>T (p.Arg1245Ter) |
single nucleotide variant |
Early infantile epileptic encephalopathy with suppression bursts [RCV001040173]|Inborn genetic diseases [RCV002316972]|Migraine, familial hemiplegic, 3 [RCV002492580]|Severe myoclonic epilepsy in infancy [RCV000153888]|not provided [RCV000188925] |
Chr2:166012255 [GRCh38]
Chr2:166868765 [GRCh37]
Chr2:2q24.3 |
pathogenic |
| NM_001165963.4(SCN1A):c.2590-2A>G |
single nucleotide variant |
Early infantile epileptic encephalopathy with suppression bursts [RCV001382716]|not provided [RCV000153895] |
Chr2:166038134 [GRCh38]
Chr2:166894644 [GRCh37]
Chr2:2q24.3 |
pathogenic |
| NM_001165963.4(SCN1A):c.3866T>C (p.Phe1289Ser) |
single nucleotide variant |
Early infantile epileptic encephalopathy with suppression bursts [RCV000544348]|not provided [RCV000175413] |
Chr2:166012122 [GRCh38]
Chr2:166868632 [GRCh37]
Chr2:2q24.3 |
uncertain significance |
| NM_001165963.4(SCN1A):c.3732G>A (p.Gln1244=) |
single nucleotide variant |
Early infantile epileptic encephalopathy with suppression bursts [RCV001458604]|Generalized epilepsy with febrile seizures plus, type 2 [RCV001134603]|Migraine, familial hemiplegic, 3 [RCV001134602]|not provided [RCV000175414] |
Chr2:166012256 [GRCh38]
Chr2:166868766 [GRCh37]
Chr2:2q24.3 |
likely benign|conflicting interpretations of pathogenicity|uncertain significance |
| NM_001165963.4(SCN1A):c.4446C>G (p.Ile1482Met) |
single nucleotide variant |
Early infantile epileptic encephalopathy with suppression bursts [RCV001857530]|not provided [RCV000153885] |
Chr2:165998068 [GRCh38]
Chr2:166854578 [GRCh37]
Chr2:2q24.3 |
uncertain significance |
| NM_001165963.4(SCN1A):c.3810A>C (p.Lys1270Asn) |
single nucleotide variant |
not provided [RCV000153887] |
Chr2:166012178 [GRCh38]
Chr2:166868688 [GRCh37]
Chr2:2q24.3 |
uncertain significance |
| NM_001165963.4(SCN1A):c.3450C>T (p.Ser1150=) |
single nucleotide variant |
Early infantile epileptic encephalopathy with suppression bursts [RCV001500522]|not specified [RCV000153891] |
Chr2:166015707 [GRCh38]
Chr2:166872217 [GRCh37]
Chr2:2q24.3 |
likely benign|uncertain significance |
| NM_001165963.4(SCN1A):c.2984T>G (p.Phe995Cys) |
single nucleotide variant |
Early infantile epileptic encephalopathy with suppression bursts [RCV002516100]|not provided [RCV000153892] |
Chr2:166036493 [GRCh38]
Chr2:166893003 [GRCh37]
Chr2:2q24.3 |
likely pathogenic|uncertain significance |
| NM_001165963.4(SCN1A):c.2923G>C (p.Val975Leu) |
single nucleotide variant |
not provided [RCV000153893] |
Chr2:166037799 [GRCh38]
Chr2:166894309 [GRCh37]
Chr2:2q24.3 |
uncertain significance |
| NM_001165963.4(SCN1A):c.1818T>C (p.Asp606=) |
single nucleotide variant |
Early infantile epileptic encephalopathy with suppression bursts [RCV000636569]|not provided [RCV000153899] |
Chr2:166043894 [GRCh38]
Chr2:166900404 [GRCh37]
Chr2:2q24.3 |
likely benign|uncertain significance |
| NM_001165963.4(SCN1A):c.1739G>A (p.Arg580Gln) |
single nucleotide variant |
Early infantile epileptic encephalopathy with suppression bursts [RCV000471353]|Inborn genetic diseases [RCV002408682]|Migraine, familial hemiplegic, 3 [RCV000515440]|not provided [RCV000710209] |
Chr2:166043973 [GRCh38]
Chr2:166900483 [GRCh37]
Chr2:2q24.3 |
likely benign|conflicting interpretations of pathogenicity|uncertain significance |
| NM_001165963.4(SCN1A):c.694+5G>C |
single nucleotide variant |
Early infantile epileptic encephalopathy with suppression bursts [RCV001362206]|Severe myoclonic epilepsy in infancy [RCV000180927]|not provided [RCV000153902] |
Chr2:166052847 [GRCh38]
Chr2:166909357 [GRCh37]
Chr2:2q24.3 |
pathogenic|uncertain significance |
| NM_001165963.4(SCN1A):c.657A>C (p.Arg219Ser) |
single nucleotide variant |
Autosomal dominant SCN1A-related disorder [RCV000984909]|not provided [RCV000153903] |
Chr2:166052889 [GRCh38]
Chr2:166909399 [GRCh37]
Chr2:2q24.3 |
pathogenic|uncertain significance |
| NM_001165963.4(SCN1A):c.379C>G (p.His127Asp) |
single nucleotide variant |
Early infantile epileptic encephalopathy with suppression bursts [RCV000474474]|Migraine, familial hemiplegic, 3 [RCV000764287]|not provided [RCV000724565] |
Chr2:166058574 [GRCh38]
Chr2:166915084 [GRCh37]
Chr2:2q24.3 |
likely benign|conflicting interpretations of pathogenicity|uncertain significance |
| NM_001165963.4(SCN1A):c.4284+7G>A |
single nucleotide variant |
Early infantile epileptic encephalopathy with suppression bursts [RCV001392367]|SCN1A-related condition [RCV003965266]|not provided [RCV000176176] |
Chr2:166002465 [GRCh38]
Chr2:166858975 [GRCh37]
Chr2:2q24.3 |
likely benign|uncertain significance |
| NM_001165963.4(SCN1A):c.4010T>G (p.Val1337Gly) |
single nucleotide variant |
not provided [RCV000176179] |
Chr2:166002746 [GRCh38]
Chr2:166859256 [GRCh37]
Chr2:2q24.3 |
uncertain significance |
| NM_001165963.4(SCN1A):c.1702C>T (p.Arg568Ter) |
single nucleotide variant |
Early infantile epileptic encephalopathy with suppression bursts [RCV001382872]|Inborn genetic diseases [RCV003362739]|Migraine, familial hemiplegic, 3 [RCV000768077]|Migraine, familial hemiplegic, 3 [RCV001198880]|Migraine, familial hemiplegic, 3 [RCV003224247]|Severe myoclonic epilepsy in infancy [RCV001194613]|not provided [RCV000254726] |
Chr2:166044010 [GRCh38]
Chr2:166900520 [GRCh37]
Chr2:2q24.3 |
pathogenic |
| NM_001165963.4(SCN1A):c.1410C>T (p.Ser470=) |
single nucleotide variant |
Early infantile epileptic encephalopathy with suppression bursts [RCV000861352]|Epilepsy [RCV000275170]|Generalized epilepsy with febrile seizures plus, type 2 [RCV001133336]|Inborn genetic diseases [RCV002315498]|Migraine, familial hemiplegic, 3 [RCV000330363]|not provided [RCV002510813]|not specified [RCV000192743] |
Chr2:166045295 [GRCh38]
Chr2:166901805 [GRCh37]
Chr2:2q24.3 |
benign|likely benign|conflicting interpretations of pathogenicity|uncertain significance |
| NM_001165963.4(SCN1A):c.1118del (p.Leu373fs) |
deletion |
Severe myoclonic epilepsy in infancy [RCV000180796] |
Chr2:166047679 [GRCh38]
Chr2:166904189 [GRCh37]
Chr2:2q24.3 |
pathogenic |
| NM_001165963.4(SCN1A):c.4351C>A (p.Pro1451Thr) |
single nucleotide variant |
Early infantile epileptic encephalopathy with suppression bursts [RCV002517630]|Severe myoclonic epilepsy in infancy [RCV000180797] |
Chr2:165998163 [GRCh38]
Chr2:166854673 [GRCh37]
Chr2:2q24.3 |
pathogenic |
| NM_001165963.4(SCN1A):c.2593C>T (p.Arg865Ter) |
single nucleotide variant |
Early infantile epileptic encephalopathy with suppression bursts [RCV000530080]|Seizure [RCV001786337]|Severe myoclonic epilepsy in infancy [RCV000180798]|not provided [RCV000423112] |
Chr2:166038129 [GRCh38]
Chr2:166894639 [GRCh37]
Chr2:2q24.3 |
pathogenic |
| NM_001165963.4(SCN1A):c.5003C>G (p.Pro1668Arg) |
single nucleotide variant |
Severe myoclonic epilepsy in infancy [RCV000180799] |
Chr2:165992272 [GRCh38]
Chr2:166848782 [GRCh37]
Chr2:2q24.3 |
pathogenic |
| NM_001165963.4(SCN1A):c.4302G>A (p.Trp1434Ter) |
single nucleotide variant |
Severe myoclonic epilepsy in infancy [RCV000180800] |
Chr2:165999759 [GRCh38]
Chr2:166856269 [GRCh37]
Chr2:2q24.3 |
pathogenic |
| NM_001165963.4(SCN1A):c.3879+1G>T |
single nucleotide variant |
Severe myoclonic epilepsy in infancy [RCV000180801] |
Chr2:166012108 [GRCh38]
Chr2:166868618 [GRCh37]
Chr2:2q24.3 |
pathogenic |
| NM_001165963.4(SCN1A):c.1624C>T (p.Arg542Ter) |
single nucleotide variant |
Early infantile epileptic encephalopathy with suppression bursts [RCV000636424]|Generalized epilepsy with febrile seizures plus, type 2 [RCV001004730]|Inborn genetic diseases [RCV002313015]|Severe myoclonic epilepsy in infancy [RCV000180802]|not provided [RCV000188870] |
Chr2:166045081 [GRCh38]
Chr2:166901591 [GRCh37]
Chr2:2q24.3 |
pathogenic |
| NM_001165963.4(SCN1A):c.4879_4883dup (p.Tyr1628Ter) |
duplication |
Severe myoclonic epilepsy in infancy [RCV000180803] |
Chr2:165992391..165992392 [GRCh38]
Chr2:166848901..166848902 [GRCh37]
Chr2:2q24.3 |
pathogenic |
| NM_001165963.4(SCN1A):c.5250_5251insGG (p.Ser1751fs) |
insertion |
Severe myoclonic epilepsy in infancy [RCV000180804] |
Chr2:165992024..165992025 [GRCh38]
Chr2:166848534..166848535 [GRCh37]
Chr2:2q24.3 |
pathogenic |
| NM_001165963.4(SCN1A):c.5250_5252del (p.Ser1750_Ser1751delinsArg) |
deletion |
Severe myoclonic epilepsy in infancy [RCV000180805] |
Chr2:165992023..165992025 [GRCh38]
Chr2:166848533..166848535 [GRCh37]
Chr2:2q24.3 |
pathogenic |
| NM_001165963.4(SCN1A):c.1667del (p.Leu556fs) |
deletion |
Severe myoclonic epilepsy in infancy [RCV000180807] |
Chr2:166044045 [GRCh38]
Chr2:166900555 [GRCh37]
Chr2:2q24.3 |
pathogenic |
| NM_001165963.4(SCN1A):c.4244_4245del (p.Asn1414_Phe1415insTer) |
deletion |
Early infantile epileptic encephalopathy with suppression bursts [RCV002517631]|Severe myoclonic epilepsy in infancy [RCV000180808] |
Chr2:166002511..166002512 [GRCh38]
Chr2:166859021..166859022 [GRCh37]
Chr2:2q24.3 |
pathogenic |
| NM_001165963.4(SCN1A):c.3726_3727insAT (p.Asp1243fs) |
insertion |
Severe myoclonic epilepsy in infancy [RCV000180809] |
Chr2:166012261..166012262 [GRCh38]
Chr2:166868771..166868772 [GRCh37]
Chr2:2q24.3 |
pathogenic |
| NM_001165963.4(SCN1A):c.4088T>A (p.Ile1363Asn) |
single nucleotide variant |
Severe myoclonic epilepsy in infancy [RCV000180810] |
Chr2:166002668 [GRCh38]
Chr2:166859178 [GRCh37]
Chr2:2q24.3 |
pathogenic |
| NM_001165963.4(SCN1A):c.2879T>G (p.Met960Arg) |
single nucleotide variant |
Severe myoclonic epilepsy in infancy [RCV000180811] |
Chr2:166037843 [GRCh38]
Chr2:166894353 [GRCh37]
Chr2:2q24.3 |
pathogenic |
| NM_001165963.4(SCN1A):c.5536A>T (p.Lys1846Ter) |
single nucleotide variant |
Severe myoclonic epilepsy in infancy [RCV000180812] |
Chr2:165991739 [GRCh38]
Chr2:166848249 [GRCh37]
Chr2:2q24.3 |
pathogenic |
| NM_001165963.4(SCN1A):c.3802_3812del (p.Leu1268fs) |
deletion |
Severe myoclonic epilepsy in infancy [RCV000180813] |
Chr2:166012176..166012186 [GRCh38]
Chr2:166868686..166868696 [GRCh37]
Chr2:2q24.3 |
pathogenic |
| NM_001165963.4(SCN1A):c.3637C>T (p.Arg1213Ter) |
single nucleotide variant |
Early infantile epileptic encephalopathy with suppression bursts [RCV000808766]|Inborn genetic diseases [RCV002453572]|Migraine, familial hemiplegic, 3 [RCV002281564]|Seizure [RCV000585684]|Severe myoclonic epilepsy in infancy [RCV000180814]|not provided [RCV000189082] |
Chr2:166013812 [GRCh38]
Chr2:166870322 [GRCh37]
Chr2:2q24.3 |
pathogenic |
| NM_001165963.4(SCN1A):c.337C>A (p.Pro113Thr) |
single nucleotide variant |
Early infantile epileptic encephalopathy with suppression bursts [RCV000636365]|Severe myoclonic epilepsy in infancy [RCV000180815]|not provided [RCV000188831] |
Chr2:166058616 [GRCh38]
Chr2:166915126 [GRCh37]
Chr2:2q24.3 |
pathogenic |
| NM_001165963.4(SCN1A):c.2588T>G (p.Leu863Trp) |
single nucleotide variant |
Severe myoclonic epilepsy in infancy [RCV000180816] |
Chr2:166039424 [GRCh38]
Chr2:166895934 [GRCh37]
Chr2:2q24.3 |
pathogenic |
| NM_001165963.4(SCN1A):c.1076A>G (p.Asn359Ser) |
single nucleotide variant |
Early infantile epileptic encephalopathy with suppression bursts [RCV001377988]|Severe myoclonic epilepsy in infancy [RCV000180817]|not provided [RCV000329798] |
Chr2:166047721 [GRCh38]
Chr2:166904231 [GRCh37]
Chr2:2q24.3 |
pathogenic|likely pathogenic|conflicting interpretations of pathogenicity|uncertain significance |
| NM_001165963.4(SCN1A):c.2946+1_2946+2del |
deletion |
Severe myoclonic epilepsy in infancy [RCV000180818] |
Chr2:166037774..166037775 [GRCh38]
Chr2:166894284..166894285 [GRCh37]
Chr2:2q24.3 |
pathogenic |
| NM_001165963.4(SCN1A):c.2947del |
deletion |
Severe myoclonic epilepsy in infancy [RCV000180819]|not provided [RCV000627614] |
Chr2:166036530 [GRCh38]
Chr2:166893040 [GRCh37]
Chr2:2q24.3 |
pathogenic |
| NM_001165963.4(SCN1A):c.2876G>A (p.Cys959Tyr) |
single nucleotide variant |
Severe myoclonic epilepsy in infancy [RCV000180820]|not provided [RCV000256008] |
Chr2:166037846 [GRCh38]
Chr2:166894356 [GRCh37]
Chr2:2q24.3 |
pathogenic |
| NM_001165963.4(SCN1A):c.1660dup (p.Gln554fs) |
duplication |
Severe myoclonic epilepsy in infancy [RCV000180821] |
Chr2:166045044..166045045 [GRCh38]
Chr2:166901554..166901555 [GRCh37]
Chr2:2q24.3 |
pathogenic |
| NM_001165963.4(SCN1A):c.2792G>A (p.Arg931His) |
single nucleotide variant |
Early infantile epileptic encephalopathy with suppression bursts [RCV000457088]|Migraine, familial hemiplegic, 3 [RCV000763459]|Migraine, familial hemiplegic, 3 [RCV002281565]|Severe myoclonic epilepsy in infancy [RCV000180822]|not provided [RCV000412755] |
Chr2:166037930 [GRCh38]
Chr2:166894440 [GRCh37]
Chr2:2q24.3 |
pathogenic |
| NM_001165963.4(SCN1A):c.4906C>T (p.Arg1636Ter) |
single nucleotide variant |
Early infantile epileptic encephalopathy with suppression bursts [RCV000804066]|Severe myoclonic epilepsy in infancy [RCV000180823]|Severe myoclonic epilepsy in infancy [RCV003128152]|not provided [RCV000188982] |
Chr2:165992369 [GRCh38]
Chr2:166848879 [GRCh37]
Chr2:2q24.3 |
pathogenic |
| NM_001165963.4(SCN1A):c.675G>C (p.Lys225Asn) |
single nucleotide variant |
Severe myoclonic epilepsy in infancy [RCV000180824]|not provided [RCV000428290] |
Chr2:166052871 [GRCh38]
Chr2:166909381 [GRCh37]
Chr2:2q24.3 |
pathogenic |
| NM_001165963.4(SCN1A):c.1072C>T (p.Pro358Ser) |
single nucleotide variant |
Developmental and epileptic encephalopathy, 6 [RCV003326125]|Severe myoclonic epilepsy in infancy [RCV000180825] |
Chr2:166047725 [GRCh38]
Chr2:166904235 [GRCh37]
Chr2:2q24.3 |
pathogenic |
| NM_001165963.4(SCN1A):c.3615G>A (p.Trp1205Ter) |
single nucleotide variant |
Inborn genetic diseases [RCV000624326]|Severe myoclonic epilepsy in infancy [RCV000180826] |
Chr2:166013834 [GRCh38]
Chr2:166870344 [GRCh37]
Chr2:2q24.3 |
pathogenic |
| NM_001165963.4(SCN1A):c.2728C>A (p.Gln910Lys) |
single nucleotide variant |
Severe myoclonic epilepsy in infancy [RCV000180827] |
Chr2:166037994 [GRCh38]
Chr2:166894504 [GRCh37]
Chr2:2q24.3 |
pathogenic |
| NM_001165963.4(SCN1A):c.474_602del (p.Thr160_Tyr202del) |
deletion |
Severe myoclonic epilepsy in infancy [RCV000180828] |
Chr2:166054638..166054766 [GRCh38]
Chr2:166911148..166911276 [GRCh37]
Chr2:2q24.3 |
pathogenic |
| NM_001165963.4(SCN1A):c.5264A>G (p.Asp1755Gly) |
single nucleotide variant |
Severe myoclonic epilepsy in infancy [RCV000180829] |
Chr2:165992011 [GRCh38]
Chr2:166848521 [GRCh37]
Chr2:2q24.3 |
pathogenic |
| NM_001165963.4(SCN1A):c.3970_3971dup (p.Leu1324_Arg1325insTer) |
microsatellite |
Severe myoclonic epilepsy in infancy [RCV000180830] |
Chr2:166009749..166009750 [GRCh38]
Chr2:166866259..166866260 [GRCh37]
Chr2:2q24.3 |
pathogenic |
| NM_001165963.4(SCN1A):c.659_662del (p.Val220fs) |
deletion |
Severe myoclonic epilepsy in infancy [RCV000180831] |
Chr2:166052884..166052887 [GRCh38]
Chr2:166909394..166909397 [GRCh37]
Chr2:2q24.3 |
pathogenic |
| NM_001165963.4(SCN1A):c.3763G>C (p.Ala1255Pro) |
single nucleotide variant |
Severe myoclonic epilepsy in infancy [RCV000180832] |
Chr2:166012225 [GRCh38]
Chr2:166868735 [GRCh37]
Chr2:2q24.3 |
pathogenic |
| NM_001165963.4(SCN1A):c.1199T>A (p.Met400Lys) |
single nucleotide variant |
Severe myoclonic epilepsy in infancy [RCV000180833] |
Chr2:166046948 [GRCh38]
Chr2:166903458 [GRCh37]
Chr2:2q24.3 |
pathogenic |
| NM_001165963.4(SCN1A):c.5536_5539del (p.Lys1846fs) |
microsatellite |
Developmental and epileptic encephalopathy 6B [RCV003237341]|Early infantile epileptic encephalopathy with suppression bursts [RCV000555321]|Generalized epilepsy with febrile seizures plus, type 2 [RCV001842506]|Inborn genetic diseases [RCV002345570]|SCN1A Seizure Disorders [RCV003389241]|Severe myoclonic epilepsy in infancy [RCV000180834]|not provided [RCV000189067] |
Chr2:165991736..165991739 [GRCh38]
Chr2:166848246..166848249 [GRCh37]
Chr2:2q24.3 |
pathogenic |
| NM_001165963.4(SCN1A):c.2837G>C (p.Arg946Pro) |
single nucleotide variant |
Severe myoclonic epilepsy in infancy [RCV000180835] |
Chr2:166037885 [GRCh38]
Chr2:166894395 [GRCh37]
Chr2:2q24.3 |
pathogenic |
| NM_001165963.4(SCN1A):c.3730C>T (p.Gln1244Ter) |
single nucleotide variant |
Severe myoclonic epilepsy in infancy [RCV000180836] |
Chr2:166012258 [GRCh38]
Chr2:166868768 [GRCh37]
Chr2:2q24.3 |
pathogenic |
| NM_001165963.4(SCN1A):c.3455C>A (p.Ser1152Ter) |
single nucleotide variant |
Severe myoclonic epilepsy in infancy [RCV000180837] |
Chr2:166015702 [GRCh38]
Chr2:166872212 [GRCh37]
Chr2:2q24.3 |
pathogenic |
| NM_001165963.4(SCN1A):c.3477del (p.Ile1159fs) |
deletion |
Severe myoclonic epilepsy in infancy [RCV000180838] |
Chr2:166015680 [GRCh38]
Chr2:166872190 [GRCh37]
Chr2:2q24.3 |
pathogenic |
| NM_001165963.4(SCN1A):c.3828T>A (p.Tyr1276Ter) |
single nucleotide variant |
Severe myoclonic epilepsy in infancy [RCV000180839] |
Chr2:166012160 [GRCh38]
Chr2:166868670 [GRCh37]
Chr2:2q24.3 |
pathogenic |
| NM_001165963.4(SCN1A):c.1136T>A (p.Met379Lys) |
single nucleotide variant |
Severe myoclonic epilepsy in infancy [RCV000180840] |
Chr2:166047661 [GRCh38]
Chr2:166904171 [GRCh37]
Chr2:2q24.3 |
pathogenic |
| NM_001165963.4(SCN1A):c.3439G>T (p.Glu1147Ter) |
single nucleotide variant |
Severe myoclonic epilepsy in infancy [RCV000180841] |
Chr2:166015718 [GRCh38]
Chr2:166872228 [GRCh37]
Chr2:2q24.3 |
pathogenic |
| NM_001165963.4(SCN1A):c.4338+4A>C |
single nucleotide variant |
Severe myoclonic epilepsy in infancy [RCV000180842] |
Chr2:165999719 [GRCh38]
Chr2:166856229 [GRCh37]
Chr2:2q24.3 |
pathogenic |
| NM_001165963.4(SCN1A):c.3705+2T>A |
single nucleotide variant |
Severe myoclonic epilepsy in infancy [RCV000180843] |
Chr2:166013742 [GRCh38]
Chr2:166870252 [GRCh37]
Chr2:2q24.3 |
pathogenic |
| NM_001165963.4(SCN1A):c.1738C>T (p.Arg580Ter) |
single nucleotide variant |
Early infantile epileptic encephalopathy with suppression bursts [RCV000544887]|SCN1A-related condition [RCV003398874]|Severe myoclonic epilepsy in infancy [RCV000180844]|not provided [RCV000254957] |
Chr2:166043974 [GRCh38]
Chr2:166900484 [GRCh37]
Chr2:2q24.3 |
pathogenic |
| NM_001165963.4(SCN1A):c.5780G>C (p.Arg1927Thr) |
single nucleotide variant |
Severe myoclonic epilepsy in infancy [RCV000180845] |
Chr2:165991495 [GRCh38]
Chr2:166848005 [GRCh37]
Chr2:2q24.3 |
pathogenic |
| NM_001165963.4(SCN1A):c.121A>T (p.Lys41Ter) |
single nucleotide variant |
Severe myoclonic epilepsy in infancy [RCV000180846] |
Chr2:166073501 [GRCh38]
Chr2:166930011 [GRCh37]
Chr2:2q24.3 |
pathogenic |
| NM_001165963.4(SCN1A):c.2523_2524del (p.Thr841_Leu842insTer) |
deletion |
Severe myoclonic epilepsy in infancy [RCV000180847] |
Chr2:166039488..166039489 [GRCh38]
Chr2:166895998..166895999 [GRCh37]
Chr2:2q24.3 |
pathogenic |
| NM_001165963.4(SCN1A):c.5674C>T (p.Arg1892Ter) |
single nucleotide variant |
Early infantile epileptic encephalopathy with suppression bursts [RCV000805798]|Generalized epilepsy with febrile seizures plus, type 2 [RCV000995637]|Migraine, familial hemiplegic, 3 [RCV002281566]|Migraine, familial hemiplegic, 3 [RCV002505227]|Severe myoclonic epilepsy in infancy [RCV000180848]|not provided [RCV000189004] |
Chr2:165991601 [GRCh38]
Chr2:166848111 [GRCh37]
Chr2:2q24.3 |
pathogenic |
| NM_001165963.4(SCN1A):c.5014A>C (p.Asn1672His) |
single nucleotide variant |
Severe myoclonic epilepsy in infancy [RCV000180849] |
Chr2:165992261 [GRCh38]
Chr2:166848771 [GRCh37]
Chr2:2q24.3 |
pathogenic |
| NM_001165963.4(SCN1A):c.5349_5352dup (p.Ile1785fs) |
duplication |
Severe myoclonic epilepsy in infancy [RCV000180850] |
Chr2:165991922..165991923 [GRCh38]
Chr2:166848432..166848433 [GRCh37]
Chr2:2q24.3 |
pathogenic |
| NM_001165963.4(SCN1A):c.308G>T (p.Ser103Ile) |
single nucleotide variant |
Severe myoclonic epilepsy in infancy [RCV000180851] |
Chr2:166058645 [GRCh38]
Chr2:166915155 [GRCh37]
Chr2:2q24.3 |
pathogenic |
| NM_001165963.4(SCN1A):c.2213G>T (p.Trp738Leu) |
single nucleotide variant |
Severe myoclonic epilepsy in infancy [RCV000180852] |
Chr2:166041433 [GRCh38]
Chr2:166897943 [GRCh37]
Chr2:2q24.3 |
pathogenic |
| NM_001165963.4(SCN1A):c.2261G>T (p.Trp754Leu) |
single nucleotide variant |
Severe myoclonic epilepsy in infancy [RCV000180853] |
Chr2:166041385 [GRCh38]
Chr2:166897895 [GRCh37]
Chr2:2q24.3 |
pathogenic |
| NM_001165963.4(SCN1A):c.3705+1G>A |
single nucleotide variant |
Early infantile epileptic encephalopathy with suppression bursts [RCV001385514]|Generalized epilepsy with febrile seizures plus, type 2 [RCV001727612]|Severe myoclonic epilepsy in infancy [RCV000180854] |
Chr2:166013743 [GRCh38]
Chr2:166870253 [GRCh37]
Chr2:2q24.3 |
pathogenic |
| NM_001165963.4(SCN1A):c.4188C>A (p.Cys1396Ter) |
single nucleotide variant |
Severe myoclonic epilepsy in infancy [RCV000180855] |
Chr2:166002568 [GRCh38]
Chr2:166859078 [GRCh37]
Chr2:2q24.3 |
pathogenic |
| NM_001165963.4(SCN1A):c.530G>T (p.Gly177Val) |
single nucleotide variant |
Severe myoclonic epilepsy in infancy [RCV000180856] |
Chr2:166054710 [GRCh38]
Chr2:166911220 [GRCh37]
Chr2:2q24.3 |
pathogenic |
| NM_001165963.4(SCN1A):c.2985T>G (p.Phe995Leu) |
single nucleotide variant |
Severe myoclonic epilepsy in infancy [RCV000180857]|not provided [RCV000188906] |
Chr2:166036492 [GRCh38]
Chr2:166893002 [GRCh37]
Chr2:2q24.3 |
pathogenic|uncertain significance |
| NM_001165963.4(SCN1A):c.2071A>T (p.Lys691Ter) |
single nucleotide variant |
Severe myoclonic epilepsy in infancy [RCV000180858] |
Chr2:166042397 [GRCh38]
Chr2:166898907 [GRCh37]
Chr2:2q24.3 |
pathogenic |
| NM_001165963.4(SCN1A):c.5082T>G (p.Tyr1694Ter) |
single nucleotide variant |
Severe myoclonic epilepsy in infancy [RCV000180859] |
Chr2:165992193 [GRCh38]
Chr2:166848703 [GRCh37]
Chr2:2q24.3 |
pathogenic |
| NM_001165963.4(SCN1A):c.1662+1G>T |
single nucleotide variant |
Severe myoclonic epilepsy in infancy [RCV000180860] |
Chr2:166045042 [GRCh38]
Chr2:166901552 [GRCh37]
Chr2:2q24.3 |
pathogenic |
| NM_001165963.4(SCN1A):c.2299_2302dup (p.Pro768fs) |
duplication |
Severe myoclonic epilepsy in infancy [RCV000180861] |
Chr2:166041343..166041344 [GRCh38]
Chr2:166897853..166897854 [GRCh37]
Chr2:2q24.3 |
pathogenic |
| NM_001165963.4(SCN1A):c.751del (p.Val250_Met251insTer) |
deletion |
Severe myoclonic epilepsy in infancy [RCV000180862] |
Chr2:166051932 [GRCh38]
Chr2:166908442 [GRCh37]
Chr2:2q24.3 |
pathogenic |
| NM_001165963.4(SCN1A):c.4573C>T (p.Arg1525Ter) |
single nucleotide variant |
Early infantile epileptic encephalopathy with suppression bursts [RCV001382664]|Migraine, familial hemiplegic, 3 [RCV002221506]|Severe myoclonic epilepsy in infancy [RCV000180863]|not provided [RCV000188962] |
Chr2:165996021 [GRCh38]
Chr2:166852531 [GRCh37]
Chr2:2q24.3 |
pathogenic |
| NM_001165963.4(SCN1A):c.5656C>T (p.Arg1886Ter) |
single nucleotide variant |
Early infantile epileptic encephalopathy with suppression bursts [RCV000692766]|Severe myoclonic epilepsy in infancy [RCV000180864]|not provided [RCV000189014] |
Chr2:165991619 [GRCh38]
Chr2:166848129 [GRCh37]
Chr2:2q24.3 |
pathogenic|likely pathogenic |
| NM_001165963.4(SCN1A):c.1146C>A (p.Asp382Glu) |
single nucleotide variant |
Early infantile epileptic encephalopathy with suppression bursts [RCV001850417]|Severe myoclonic epilepsy in infancy [RCV000180865] |
Chr2:166047651 [GRCh38]
Chr2:166904161 [GRCh37]
Chr2:2q24.3 |
pathogenic|likely pathogenic |
| NM_001165963.4(SCN1A):c.5010_5013del (p.Phe1671fs) |
deletion |
Early infantile epileptic encephalopathy with suppression bursts [RCV000798624]|Epileptic encephalopathy [RCV001003954]|Severe myoclonic epilepsy in infancy [RCV000180866]|not provided [RCV000189065] |
Chr2:165992262..165992265 [GRCh38]
Chr2:166848772..166848775 [GRCh37]
Chr2:2q24.3 |
pathogenic |
| NM_001165963.4(SCN1A):c.728C>A (p.Ser243Tyr) |
single nucleotide variant |
Severe myoclonic epilepsy in infancy [RCV000180867] |
Chr2:166051955 [GRCh38]
Chr2:166908465 [GRCh37]
Chr2:2q24.3 |
pathogenic |
| NM_001165963.4(SCN1A):c.3062_3066del (p.Lys1021fs) |
deletion |
Severe myoclonic epilepsy in infancy [RCV000180868] |
Chr2:166036411..166036415 [GRCh38]
Chr2:166892921..166892925 [GRCh37]
Chr2:2q24.3 |
pathogenic |
| NM_001165963.4(SCN1A):c.2353A>G (p.Met785Val) |
single nucleotide variant |
Early infantile epileptic encephalopathy with suppression bursts [RCV001071061]|Severe myoclonic epilepsy in infancy [RCV000180869] |
Chr2:166041293 [GRCh38]
Chr2:166897803 [GRCh37]
Chr2:2q24.3 |
pathogenic|likely pathogenic |
| NM_001165963.4(SCN1A):c.4611_4645dup (p.Ile1549delinsThrTer) |
duplication |
Severe myoclonic epilepsy in infancy [RCV000180870] |
Chr2:165994352..165994353 [GRCh38]
Chr2:166850862..166850863 [GRCh37]
Chr2:2q24.3 |
pathogenic |
| NM_001165963.4(SCN1A):c.5003del (p.Pro1668fs) |
deletion |
Severe myoclonic epilepsy in infancy [RCV000180871] |
Chr2:165992272 [GRCh38]
Chr2:166848782 [GRCh37]
Chr2:2q24.3 |
pathogenic |
| NM_001165963.4(SCN1A):c.1265T>C (p.Val422Ala) |
single nucleotide variant |
Severe myoclonic epilepsy in infancy [RCV000180872] |
Chr2:166046882 [GRCh38]
Chr2:166903392 [GRCh37]
Chr2:2q24.3 |
pathogenic |
| NM_001165963.4(SCN1A):c.4933C>T (p.Arg1645Ter) |
single nucleotide variant |
Early infantile epileptic encephalopathy with suppression bursts [RCV001850418]|Generalized epilepsy with febrile seizures plus, type 2 [RCV001580464]|Migraine, familial hemiplegic, 3 [RCV001813764]|Severe myoclonic epilepsy in infancy [RCV000180873]|not provided [RCV001090360] |
Chr2:165992342 [GRCh38]
Chr2:166848852 [GRCh37]
Chr2:2q24.3 |
pathogenic |
| NM_001165963.4(SCN1A):c.4997C>T (p.Ser1666Phe) |
single nucleotide variant |
Early infantile epileptic encephalopathy with suppression bursts [RCV002515208]|Severe myoclonic epilepsy in infancy [RCV000180874] |
Chr2:165992278 [GRCh38]
Chr2:166848788 [GRCh37]
Chr2:2q24.3 |
pathogenic|likely pathogenic|conflicting interpretations of pathogenicity |
| NM_001165963.4(SCN1A):c.4547C>G (p.Ser1516Trp) |
single nucleotide variant |
Severe myoclonic epilepsy in infancy [RCV000180875] |
Chr2:165996047 [GRCh38]
Chr2:166852557 [GRCh37]
Chr2:2q24.3 |
pathogenic |
| NM_001165963.4(SCN1A):c.2690T>C (p.Leu897Ser) |
single nucleotide variant |
Early infantile epileptic encephalopathy with suppression bursts [RCV002515209]|Severe myoclonic epilepsy in infancy [RCV000180876] |
Chr2:166038032 [GRCh38]
Chr2:166894542 [GRCh37]
Chr2:2q24.3 |
pathogenic|uncertain significance |
| NM_001165963.4(SCN1A):c.264+5G>C |
single nucleotide variant |
Early infantile epileptic encephalopathy with suppression bursts [RCV001212061]|Severe myoclonic epilepsy in infancy [RCV000180877] |
Chr2:166073353 [GRCh38]
Chr2:166929863 [GRCh37]
Chr2:2q24.3 |
pathogenic |
| NM_001165963.4(SCN1A):c.5222G>A (p.Cys1741Tyr) |
single nucleotide variant |
Early infantile epileptic encephalopathy with suppression bursts [RCV002516537]|Severe myoclonic epilepsy in infancy [RCV000180878]|not provided [RCV000188996] |
Chr2:165992053 [GRCh38]
Chr2:166848563 [GRCh37]
Chr2:2q24.3 |
pathogenic|likely pathogenic |
| NM_001165963.4(SCN1A):c.384-1C>G |
single nucleotide variant |
Severe myoclonic epilepsy in infancy [RCV000180880] |
Chr2:166056501 [GRCh38]
Chr2:166913011 [GRCh37]
Chr2:2q24.3 |
pathogenic |
| NM_001165963.4(SCN1A):c.1170+1G>T |
single nucleotide variant |
Severe myoclonic epilepsy in infancy [RCV000180881]|not provided [RCV000433816] |
Chr2:166047626 [GRCh38]
Chr2:166904136 [GRCh37]
Chr2:2q24.3 |
pathogenic |
| NM_001165963.4(SCN1A):c.2303C>T (p.Pro768Leu) |
single nucleotide variant |
Early infantile epileptic encephalopathy with suppression bursts [RCV001344647]|Severe myoclonic epilepsy in infancy [RCV000180882]|not provided [RCV003482238] |
Chr2:166041343 [GRCh38]
Chr2:166897853 [GRCh37]
Chr2:2q24.3 |
pathogenic|likely pathogenic|uncertain significance |
| NM_001165963.4(SCN1A):c.1055_1056del (p.Val352fs) |
microsatellite |
Severe myoclonic epilepsy in infancy [RCV000180883] |
Chr2:166047741..166047742 [GRCh38]
Chr2:166904251..166904252 [GRCh37]
Chr2:2q24.3 |
pathogenic |
| NM_001165963.4(SCN1A):c.1048A>G (p.Met350Val) |
single nucleotide variant |
Severe myoclonic epilepsy in infancy [RCV000180884] |
Chr2:166047749 [GRCh38]
Chr2:166904259 [GRCh37]
Chr2:2q24.3 |
pathogenic |
| NM_001165963.4(SCN1A):c.5470G>T (p.Glu1824Ter) |
single nucleotide variant |
Severe myoclonic epilepsy in infancy [RCV000180885] |
Chr2:165991805 [GRCh38]
Chr2:166848315 [GRCh37]
Chr2:2q24.3 |
pathogenic |
| NM_001165963.4(SCN1A):c.3706G>C (p.Ala1236Pro) |
single nucleotide variant |
Intellectual disability [RCV001255366]|Severe myoclonic epilepsy in infancy [RCV000180886] |
Chr2:166012282 [GRCh38]
Chr2:166868792 [GRCh37]
Chr2:2q24.3 |
pathogenic|likely pathogenic |
| NM_001165963.4(SCN1A):c.769T>C (p.Cys257Arg) |
single nucleotide variant |
Severe myoclonic epilepsy in infancy [RCV000180887]|not provided [RCV000188845] |
Chr2:166051914 [GRCh38]
Chr2:166908424 [GRCh37]
Chr2:2q24.3 |
pathogenic|likely pathogenic |
| NM_001165963.4(SCN1A):c.2946+1G>T |
single nucleotide variant |
Early infantile epileptic encephalopathy with suppression bursts [RCV001850419]|Severe myoclonic epilepsy in infancy [RCV000180888]|not provided [RCV000188902] |
Chr2:166037775 [GRCh38]
Chr2:166894285 [GRCh37]
Chr2:2q24.3 |
pathogenic |
| NM_001165963.4(SCN1A):c.1662+3A>G |
single nucleotide variant |
Early infantile epileptic encephalopathy with suppression bursts [RCV001850420]|Severe myoclonic epilepsy in infancy [RCV000180889] |
Chr2:166045040 [GRCh38]
Chr2:166901550 [GRCh37]
Chr2:2q24.3 |
pathogenic|likely pathogenic |
| NM_001165963.4(SCN1A):c.3487del (p.Pro1162_Val1163insTer) |
deletion |
Severe myoclonic epilepsy in infancy [RCV000180890] |
Chr2:166015670 [GRCh38]
Chr2:166872180 [GRCh37]
Chr2:2q24.3 |
pathogenic |
| NM_001165963.4(SCN1A):c.2589+3A>T |
single nucleotide variant |
Early infantile epileptic encephalopathy with suppression bursts [RCV000554065]|Migraine, familial hemiplegic, 3 [RCV003224181]|Severe myoclonic epilepsy in infancy [RCV000180891]|not provided [RCV000188876] |
Chr2:166039420 [GRCh38]
Chr2:166895930 [GRCh37]
Chr2:2q24.3 |
pathogenic |
| NM_001165963.4(SCN1A):c.1183_1184del (p.Ala395fs) |
deletion |
Severe myoclonic epilepsy in infancy [RCV000180892] |
Chr2:166046963..166046964 [GRCh38]
Chr2:166903473..166903474 [GRCh37]
Chr2:2q24.3 |
pathogenic |
| NM_001165963.4(SCN1A):c.1182_1183insA (p.Ala395fs) |
insertion |
Severe myoclonic epilepsy in infancy [RCV000180893] |
Chr2:166046964..166046965 [GRCh38]
Chr2:166903474..166903475 [GRCh37]
Chr2:2q24.3 |
pathogenic |
| NM_001165963.4(SCN1A):c.1834C>T (p.Arg612Ter) |
single nucleotide variant |
Early infantile epileptic encephalopathy with suppression bursts [RCV000699982]|Severe myoclonic epilepsy in infancy [RCV000180894] |
Chr2:166043878 [GRCh38]
Chr2:166900388 [GRCh37]
Chr2:2q24.3 |
pathogenic |
| NM_001165963.4(SCN1A):c.4086C>G (p.Ser1362Arg) |
single nucleotide variant |
Early infantile epileptic encephalopathy with suppression bursts [RCV002515210]|Severe myoclonic epilepsy in infancy [RCV000180895] |
Chr2:166002670 [GRCh38]
Chr2:166859180 [GRCh37]
Chr2:2q24.3 |
pathogenic|uncertain significance |
| NM_001165963.4(SCN1A):c.5404G>T (p.Glu1802Ter) |
single nucleotide variant |
Severe myoclonic epilepsy in infancy [RCV000180896] |
Chr2:165991871 [GRCh38]
Chr2:166848381 [GRCh37]
Chr2:2q24.3 |
pathogenic |
| NM_001165963.4(SCN1A):c.5461C>T (p.Gln1821Ter) |
single nucleotide variant |
Severe myoclonic epilepsy in infancy [RCV000180897] |
Chr2:165991814 [GRCh38]
Chr2:166848324 [GRCh37]
Chr2:2q24.3 |
pathogenic |
| NM_001165963.4(SCN1A):c.1033T>C (p.Cys345Arg) |
single nucleotide variant |
Early infantile epileptic encephalopathy with suppression bursts [RCV002516538]|Severe myoclonic epilepsy in infancy [RCV000180898] |
Chr2:166047764 [GRCh38]
Chr2:166904274 [GRCh37]
Chr2:2q24.3 |
pathogenic |
| NM_001165963.4(SCN1A):c.5334del (p.Asn1779fs) |
deletion |
Severe myoclonic epilepsy in infancy [RCV000180899] |
Chr2:165991941 [GRCh38]
Chr2:166848451 [GRCh37]
Chr2:2q24.3 |
pathogenic |
| NM_001165963.4(SCN1A):c.4223G>A (p.Trp1408Ter) |
single nucleotide variant |
Generalized epilepsy with febrile seizures plus, type 2 [RCV001527712]|Severe myoclonic epilepsy in infancy [RCV000180900] |
Chr2:166002533 [GRCh38]
Chr2:166859043 [GRCh37]
Chr2:2q24.3 |
pathogenic |
| NM_001165963.4(SCN1A):c.4823del (p.Asp1608fs) |
deletion |
Severe myoclonic epilepsy in infancy [RCV000180901] |
Chr2:165994175 [GRCh38]
Chr2:166850685 [GRCh37]
Chr2:2q24.3 |
pathogenic |
| NM_001165963.4(SCN1A):c.2615C>A (p.Ser872Tyr) |
single nucleotide variant |
Severe myoclonic epilepsy in infancy [RCV000180902]|not provided [RCV001531324] |
Chr2:166038107 [GRCh38]
Chr2:166894617 [GRCh37]
Chr2:2q24.3 |
pathogenic|likely pathogenic |
| NM_001165963.4(SCN1A):c.2603del (p.Lys868fs) |
deletion |
Severe myoclonic epilepsy in infancy [RCV000180903] |
Chr2:166038119 [GRCh38]
Chr2:166894629 [GRCh37]
Chr2:2q24.3 |
pathogenic |
| NM_001165963.4(SCN1A):c.896_905del (p.Asn299fs) |
deletion |
Severe myoclonic epilepsy in infancy [RCV000180904] |
Chr2:166051778..166051787 [GRCh38]
Chr2:166908288..166908297 [GRCh37]
Chr2:2q24.3 |
pathogenic |
| NM_001165963.4(SCN1A):c.4016C>T (p.Ala1339Val) |
single nucleotide variant |
Severe myoclonic epilepsy in infancy [RCV000180905] |
Chr2:166002740 [GRCh38]
Chr2:166859250 [GRCh37]
Chr2:2q24.3 |
pathogenic |
| NM_001165963.4(SCN1A):c.1516C>T (p.Gln506Ter) |
single nucleotide variant |
Early infantile epileptic encephalopathy with suppression bursts [RCV001850421]|Severe myoclonic epilepsy in infancy [RCV000180906] |
Chr2:166045189 [GRCh38]
Chr2:166901699 [GRCh37]
Chr2:2q24.3 |
pathogenic |
| NM_001165963.4(SCN1A):c.185del (p.Pro62fs) |
deletion |
Severe myoclonic epilepsy in infancy [RCV000180907] |
Chr2:166073437 [GRCh38]
Chr2:166929947 [GRCh37]
Chr2:2q24.3 |
pathogenic |
| NM_001165963.4(SCN1A):c.1096_1115del (p.Asp366fs) |
deletion |
Severe myoclonic epilepsy in infancy [RCV000180908] |
Chr2:166047682..166047701 [GRCh38]
Chr2:166904192..166904211 [GRCh37]
Chr2:2q24.3 |
pathogenic |
| NM_001165963.4(SCN1A):c.323T>C (p.Leu108Pro) |
single nucleotide variant |
Severe myoclonic epilepsy in infancy [RCV000180910] |
Chr2:166058630 [GRCh38]
Chr2:166915140 [GRCh37]
Chr2:2q24.3 |
pathogenic |
| NM_001165963.4(SCN1A):c.2537A>G (p.Glu846Gly) |
single nucleotide variant |
Severe myoclonic epilepsy in infancy [RCV000180911] |
Chr2:166039475 [GRCh38]
Chr2:166895985 [GRCh37]
Chr2:2q24.3 |
pathogenic |
| NM_001165963.4(SCN1A):c.2176+3T>A |
single nucleotide variant |
Severe myoclonic epilepsy in infancy [RCV000180912] |
Chr2:166042289 [GRCh38]
Chr2:166898799 [GRCh37]
Chr2:2q24.3 |
pathogenic |
| NM_001165963.4(SCN1A):c.289_292del (p.Lys97fs) |
deletion |
Severe myoclonic epilepsy in infancy [RCV000180913] |
Chr2:166058661..166058664 [GRCh38]
Chr2:166915171..166915174 [GRCh37]
Chr2:2q24.3 |
pathogenic |
| NM_001165963.4(SCN1A):c.1025C>T (p.Ala342Val) |
single nucleotide variant |
Severe myoclonic epilepsy in infancy [RCV000180914] |
Chr2:166048889 [GRCh38]
Chr2:166905399 [GRCh37]
Chr2:2q24.3 |
pathogenic |
| NM_001165963.4(SCN1A):c.2792G>C (p.Arg931Pro) |
single nucleotide variant |
Early infantile epileptic encephalopathy with suppression bursts [RCV001376917]|Severe myoclonic epilepsy in infancy [RCV000180915] |
Chr2:166037930 [GRCh38]
Chr2:166894440 [GRCh37]
Chr2:2q24.3 |
pathogenic|likely pathogenic |
| NM_001165963.4(SCN1A):c.1007G>A (p.Cys336Tyr) |
single nucleotide variant |
Early infantile epileptic encephalopathy with suppression bursts [RCV003588584]|Severe myoclonic epilepsy in infancy [RCV000180916] |
Chr2:166048907 [GRCh38]
Chr2:166905417 [GRCh37]
Chr2:2q24.3 |
pathogenic |
| NM_001165963.4(SCN1A):c.1129C>T (p.Arg377Ter) |
single nucleotide variant |
Early infantile epileptic encephalopathy with suppression bursts [RCV000529401]|Seizure [RCV002274946]|Severe myoclonic epilepsy in infancy [RCV000180917]|not provided [RCV000423099] |
Chr2:166047668 [GRCh38]
Chr2:166904178 [GRCh37]
Chr2:2q24.3 |
pathogenic|likely pathogenic |
| NM_001165963.4(SCN1A):c.4811G>A (p.Trp1604Ter) |
single nucleotide variant |
Early infantile epileptic encephalopathy with suppression bursts [RCV002515211]|Severe myoclonic epilepsy in infancy [RCV000180918] |
Chr2:165994187 [GRCh38]
Chr2:166850697 [GRCh37]
Chr2:2q24.3 |
pathogenic |
| NM_001165963.4(SCN1A):c.5515C>G (p.Leu1839Val) |
single nucleotide variant |
Severe myoclonic epilepsy in infancy [RCV000180919]|not provided [RCV003480074] |
Chr2:165991760 [GRCh38]
Chr2:166848270 [GRCh37]
Chr2:2q24.3 |
pathogenic|likely pathogenic |
| NM_001165963.4(SCN1A):c.5108A>T (p.Asp1703Val) |
single nucleotide variant |
Severe myoclonic epilepsy in infancy [RCV000180920] |
Chr2:165992167 [GRCh38]
Chr2:166848677 [GRCh37]
Chr2:2q24.3 |
pathogenic |
| NM_001165963.4(SCN1A):c.383+1A>G |
single nucleotide variant |
Early infantile epileptic encephalopathy with suppression bursts [RCV000824285]|Inborn genetic diseases [RCV002316980]|Severe myoclonic epilepsy in infancy [RCV000180921] |
Chr2:166058569 [GRCh38]
Chr2:166915079 [GRCh37]
Chr2:2q24.3 |
pathogenic |
| NM_001165963.4(SCN1A):c.3899C>G (p.Thr1300Arg) |
single nucleotide variant |
Severe myoclonic epilepsy in infancy [RCV000180922] |
Chr2:166009822 [GRCh38]
Chr2:166866332 [GRCh37]
Chr2:2q24.3 |
pathogenic |
| NM_001165963.4(SCN1A):c.2213G>A (p.Trp738Ter) |
single nucleotide variant |
Early infantile epileptic encephalopathy with suppression bursts [RCV002515212]|Severe myoclonic epilepsy in infancy [RCV000180923]|not provided [RCV000578911] |
Chr2:166041433 [GRCh38]
Chr2:166897943 [GRCh37]
Chr2:2q24.3 |
pathogenic |
| NM_001165963.4(SCN1A):c.5106T>A (p.Asp1702Glu) |
single nucleotide variant |
Severe myoclonic epilepsy in infancy [RCV000180924] |
Chr2:165992169 [GRCh38]
Chr2:166848679 [GRCh37]
Chr2:2q24.3 |
pathogenic |
| NM_001165963.4(SCN1A):c.2479T>G (p.Tyr827Asp) |
single nucleotide variant |
Severe myoclonic epilepsy in infancy [RCV000180925] |
Chr2:166039533 [GRCh38]
Chr2:166896043 [GRCh37]
Chr2:2q24.3 |
pathogenic |
| NM_001165963.4(SCN1A):c.2100del (p.Met701fs) |
deletion |
Severe myoclonic epilepsy in infancy [RCV000180926] |
Chr2:166042368 [GRCh38]
Chr2:166898878 [GRCh37]
Chr2:2q24.3 |
pathogenic |
| NM_001165963.4(SCN1A):c.1345G>T (p.Glu449Ter) |
single nucleotide variant |
Severe myoclonic epilepsy in infancy [RCV000180928] |
Chr2:166046802 [GRCh38]
Chr2:166903312 [GRCh37]
Chr2:2q24.3 |
pathogenic |
| NM_001165963.4(SCN1A):c.2872_2881del (p.Asp958fs) |
deletion |
Severe myoclonic epilepsy in infancy [RCV000180929] |
Chr2:166037841..166037850 [GRCh38]
Chr2:166894351..166894360 [GRCh37]
Chr2:2q24.3 |
pathogenic |
| NM_001165963.4(SCN1A):c.3106C>T (p.Gln1036Ter) |
single nucleotide variant |
Early infantile epileptic encephalopathy with suppression bursts [RCV000636324]|Severe myoclonic epilepsy in infancy [RCV000180930]|not provided [RCV003441770] |
Chr2:166036371 [GRCh38]
Chr2:166892881 [GRCh37]
Chr2:2q24.3 |
pathogenic |
| NM_001165963.4(SCN1A):c.4412C>T (p.Ser1471Phe) |
single nucleotide variant |
Early infantile epileptic encephalopathy with suppression bursts [RCV002516539]|Severe myoclonic epilepsy in infancy [RCV000180931] |
Chr2:165998102 [GRCh38]
Chr2:166854612 [GRCh37]
Chr2:2q24.3 |
pathogenic |
| NM_001165963.4(SCN1A):c.1301del (p.Leu434fs) |
deletion |
Severe myoclonic epilepsy in infancy [RCV000180932] |
Chr2:166046846 [GRCh38]
Chr2:166903356 [GRCh37]
Chr2:2q24.3 |
pathogenic |
| NM_001165963.4(SCN1A):c.2780G>T (p.Cys927Phe) |
single nucleotide variant |
SCN1A-related condition [RCV003416058]|Severe myoclonic epilepsy in infancy [RCV000180933] |
Chr2:166037942 [GRCh38]
Chr2:166894452 [GRCh37]
Chr2:2q24.3 |
pathogenic|uncertain significance |
| NM_001165963.4(SCN1A):c.825_826insGTATA (p.Lys276delinsValTer) |
insertion |
Severe myoclonic epilepsy in infancy [RCV000180934] |
Chr2:166051857..166051858 [GRCh38]
Chr2:166908367..166908368 [GRCh37]
Chr2:2q24.3 |
pathogenic |
| NM_001165963.4(SCN1A):c.3017del (p.Asp1006fs) |
deletion |
Severe myoclonic epilepsy in infancy [RCV000180935] |
Chr2:166036460 [GRCh38]
Chr2:166892970 [GRCh37]
Chr2:2q24.3 |
pathogenic |
| NM_001165963.4(SCN1A):c.747T>G (p.Asp249Glu) |
single nucleotide variant |
Severe myoclonic epilepsy in infancy [RCV000180938] |
Chr2:166051936 [GRCh38]
Chr2:166908446 [GRCh37]
Chr2:2q24.3 |
pathogenic |
| NM_001165963.4(SCN1A):c.5284_5291dup (p.Phe1764fs) |
duplication |
Severe myoclonic epilepsy in infancy [RCV000180939] |
Chr2:165991983..165991984 [GRCh38]
Chr2:166848493..166848494 [GRCh37]
Chr2:2q24.3 |
pathogenic |
| NM_001165963.4(SCN1A):c.2678T>A (p.Leu893Ter) |
single nucleotide variant |
Severe myoclonic epilepsy in infancy [RCV000180940] |
Chr2:166038044 [GRCh38]
Chr2:166894554 [GRCh37]
Chr2:2q24.3 |
pathogenic |
| NM_001165963.4(SCN1A):c.3880-2A>G |
single nucleotide variant |
Early infantile epileptic encephalopathy with suppression bursts [RCV000707470]|Severe myoclonic epilepsy in infancy [RCV000180941] |
Chr2:166009843 [GRCh38]
Chr2:166866353 [GRCh37]
Chr2:2q24.3 |
pathogenic |
| NM_001165963.4(SCN1A):c.3757G>T (p.Glu1253Ter) |
single nucleotide variant |
Severe myoclonic epilepsy in infancy [RCV000180942] |
Chr2:166012231 [GRCh38]
Chr2:166868741 [GRCh37]
Chr2:2q24.3 |
pathogenic |
| NM_001165963.4(SCN1A):c.1197_1198del (p.Met400fs) |
deletion |
Severe myoclonic epilepsy in infancy [RCV000180943] |
Chr2:166046949..166046950 [GRCh38]
Chr2:166903459..166903460 [GRCh37]
Chr2:2q24.3 |
pathogenic |
| NM_001165963.4(SCN1A):c.4993_4996dup (p.Ser1666fs) |
duplication |
Severe myoclonic epilepsy in infancy [RCV000180944] |
Chr2:165992278..165992279 [GRCh38]
Chr2:166848788..166848789 [GRCh37]
Chr2:2q24.3 |
pathogenic |
| NM_001165963.4(SCN1A):c.2318_2319insT (p.Ile774fs) |
insertion |
Severe myoclonic epilepsy in infancy [RCV000180945] |
Chr2:166041327..166041328 [GRCh38]
Chr2:166897837..166897838 [GRCh37]
Chr2:2q24.3 |
pathogenic |
| NM_001165963.4(SCN1A):c.4055T>C (p.Leu1352Pro) |
single nucleotide variant |
Early infantile epileptic encephalopathy with suppression bursts [RCV001219498]|Generalized epilepsy with febrile seizures plus, type 2 [RCV002272155]|Severe myoclonic epilepsy in infancy [RCV000180946] |
Chr2:166002701 [GRCh38]
Chr2:166859211 [GRCh37]
Chr2:2q24.3 |
pathogenic|uncertain significance |
| NM_001165963.4(SCN1A):c.4044G>A (p.Met1348Ile) |
single nucleotide variant |
Severe myoclonic epilepsy in infancy [RCV000180947] |
Chr2:166002712 [GRCh38]
Chr2:166859222 [GRCh37]
Chr2:2q24.3 |
pathogenic |
| NM_001165963.4(SCN1A):c.2903G>T (p.Cys968Phe) |
single nucleotide variant |
Severe myoclonic epilepsy in infancy [RCV000180948] |
Chr2:166037819 [GRCh38]
Chr2:166894329 [GRCh37]
Chr2:2q24.3 |
pathogenic |
| NM_001165963.4(SCN1A):c.965-1G>A |
single nucleotide variant |
Early infantile epileptic encephalopathy with suppression bursts [RCV000551280]|Inborn genetic diseases [RCV002381539]|Severe myoclonic epilepsy in infancy [RCV000180949]|not provided [RCV000188853] |
Chr2:166048950 [GRCh38]
Chr2:166905460 [GRCh37]
Chr2:2q24.3 |
pathogenic|likely pathogenic |
| NM_001165963.4(SCN1A):c.4554del (p.Lys1518fs) |
deletion |
Early infantile epileptic encephalopathy with suppression bursts [RCV001052311]|Severe myoclonic epilepsy in infancy [RCV000180950] |
Chr2:165996040 [GRCh38]
Chr2:166852550 [GRCh37]
Chr2:2q24.3 |
pathogenic |
| NM_001165963.4(SCN1A):c.1259C>T (p.Ala420Val) |
single nucleotide variant |
Early infantile epileptic encephalopathy with suppression bursts [RCV001850422]|Severe myoclonic epilepsy in infancy [RCV000180952] |
Chr2:166046888 [GRCh38]
Chr2:166903398 [GRCh37]
Chr2:2q24.3 |
pathogenic|uncertain significance |
| NM_001165963.4(SCN1A):c.602+1G>T |
single nucleotide variant |
Early infantile epileptic encephalopathy with suppression bursts [RCV001850423]|Severe myoclonic epilepsy in infancy [RCV000180953] |
Chr2:166054637 [GRCh38]
Chr2:166911147 [GRCh37]
Chr2:2q24.3 |
pathogenic |
| NM_001165963.4(SCN1A):c.4766T>G (p.Val1589Gly) |
single nucleotide variant |
Severe myoclonic epilepsy in infancy [RCV000180954] |
Chr2:165994232 [GRCh38]
Chr2:166850742 [GRCh37]
Chr2:2q24.3 |
pathogenic |
| NM_001165963.4(SCN1A):c.2929G>A (p.Val977Met) |
single nucleotide variant |
Severe myoclonic epilepsy in infancy [RCV000180955] |
Chr2:166037793 [GRCh38]
Chr2:166894303 [GRCh37]
Chr2:2q24.3 |
pathogenic |
| NM_001165963.4(SCN1A):c.1442_1445del (p.Asp481fs) |
deletion |
Severe myoclonic epilepsy in infancy [RCV000180956] |
Chr2:166045260..166045263 [GRCh38]
Chr2:166901770..166901773 [GRCh37]
Chr2:2q24.3 |
pathogenic |
| NM_001165963.4(SCN1A):c.2980_2981del (p.Ser994fs) |
deletion |
Severe myoclonic epilepsy in infancy [RCV000180957] |
Chr2:166036496..166036497 [GRCh38]
Chr2:166893006..166893007 [GRCh37]
Chr2:2q24.3 |
pathogenic |
| NM_001165963.4(SCN1A):c.380A>T (p.His127Leu) |
single nucleotide variant |
Severe myoclonic epilepsy in infancy [RCV000180958] |
Chr2:166058573 [GRCh38]
Chr2:166915083 [GRCh37]
Chr2:2q24.3 |
pathogenic |
| NM_001165963.4(SCN1A):c.5297_5298del (p.Phe1766fs) |
deletion |
Severe myoclonic epilepsy in infancy [RCV000180959] |
Chr2:165991977..165991978 [GRCh38]
Chr2:166848487..166848488 [GRCh37]
Chr2:2q24.3 |
pathogenic |
| NM_001165963.4(SCN1A):c.602+3A>C |
single nucleotide variant |
Severe myoclonic epilepsy in infancy [RCV000180960] |
Chr2:166054635 [GRCh38]
Chr2:166911145 [GRCh37]
Chr2:2q24.3 |
pathogenic |
| NM_001165963.4(SCN1A):c.4934G>C (p.Arg1645Pro) |
single nucleotide variant |
Severe myoclonic epilepsy in infancy [RCV000180961] |
Chr2:165992341 [GRCh38]
Chr2:166848851 [GRCh37]
Chr2:2q24.3 |
pathogenic |
| NM_001165963.4(SCN1A):c.1804G>T (p.Glu602Ter) |
single nucleotide variant |
Severe myoclonic epilepsy in infancy [RCV000180962] |
Chr2:166043908 [GRCh38]
Chr2:166900418 [GRCh37]
Chr2:2q24.3 |
pathogenic |
| NM_001165963.4(SCN1A):c.4549A>T (p.Lys1517Ter) |
single nucleotide variant |
Severe myoclonic epilepsy in infancy [RCV000180963]|not provided [RCV000352668] |
Chr2:165996045 [GRCh38]
Chr2:166852555 [GRCh37]
Chr2:2q24.3 |
pathogenic |
| NM_001165963.4(SCN1A):c.3550+1G>A |
single nucleotide variant |
Severe myoclonic epilepsy in infancy [RCV000180964] |
Chr2:166015606 [GRCh38]
Chr2:166872116 [GRCh37]
Chr2:2q24.3 |
pathogenic |
| NM_001165963.4(SCN1A):c.964+14T>G |
single nucleotide variant |
Severe myoclonic epilepsy in infancy [RCV000180965] |
Chr2:166051705 [GRCh38]
Chr2:166908215 [GRCh37]
Chr2:2q24.3 |
pathogenic |
| NM_001165963.4(SCN1A):c.1970C>T (p.Pro657Leu) |
single nucleotide variant |
Severe myoclonic epilepsy in infancy [RCV000180966] |
Chr2:166043742 [GRCh38]
Chr2:166900252 [GRCh37]
Chr2:2q24.3 |
pathogenic |
| NM_001165963.4(SCN1A):c.4985C>T (p.Ala1662Val) |
single nucleotide variant |
Inborn genetic diseases [RCV002316981]|Severe myoclonic epilepsy in infancy [RCV000180967] |
Chr2:165992290 [GRCh38]
Chr2:166848800 [GRCh37]
Chr2:2q24.3 |
pathogenic |
| NM_001165963.4(SCN1A):c.473+1G>C |
single nucleotide variant |
Severe myoclonic epilepsy in infancy [RCV000180968] |
Chr2:166056410 [GRCh38]
Chr2:166912920 [GRCh37]
Chr2:2q24.3 |
pathogenic |
| NM_001165963.4(SCN1A):c.3818C>T (p.Ala1273Val) |
single nucleotide variant |
Severe myoclonic epilepsy in infancy [RCV000180969]|not provided [RCV000442784] |
Chr2:166012170 [GRCh38]
Chr2:166868680 [GRCh37]
Chr2:2q24.3 |
pathogenic|likely pathogenic |
| NM_001165963.4(SCN1A):c.4168G>C (p.Val1390Leu) |
single nucleotide variant |
Severe myoclonic epilepsy in infancy [RCV000180970] |
Chr2:166002588 [GRCh38]
Chr2:166859098 [GRCh37]
Chr2:2q24.3 |
pathogenic |
| NM_001165963.4(SCN1A):c.2936G>A (p.Gly979Glu) |
single nucleotide variant |
Early infantile epileptic encephalopathy with suppression bursts [RCV002515213]|Severe myoclonic epilepsy in infancy [RCV000180972] |
Chr2:166037786 [GRCh38]
Chr2:166894296 [GRCh37]
Chr2:2q24.3 |
pathogenic |
| NM_001165963.4(SCN1A):c.1024G>T (p.Ala342Ser) |
single nucleotide variant |
Severe myoclonic epilepsy in infancy [RCV000180973]|not provided [RCV003228910] |
Chr2:166048890 [GRCh38]
Chr2:166905400 [GRCh37]
Chr2:2q24.3 |
pathogenic|likely pathogenic |
| NM_001165963.4(SCN1A):c.1046A>G (p.Tyr349Cys) |
single nucleotide variant |
Early infantile epileptic encephalopathy with suppression bursts [RCV003588585]|Severe myoclonic epilepsy in infancy [RCV000180974] |
Chr2:166047751 [GRCh38]
Chr2:166904261 [GRCh37]
Chr2:2q24.3 |
pathogenic|likely pathogenic |
| NM_001165963.4(SCN1A):c.5662C>T (p.Gln1888Ter) |
single nucleotide variant |
Severe myoclonic epilepsy in infancy [RCV000180975] |
Chr2:165991613 [GRCh38]
Chr2:166848123 [GRCh37]
Chr2:2q24.3 |
pathogenic |
| NM_001165963.4(SCN1A):c.930_931dup (p.Glu311fs) |
duplication |
Severe myoclonic epilepsy in infancy [RCV000180976] |
Chr2:166051751..166051752 [GRCh38]
Chr2:166908261..166908262 [GRCh37]
Chr2:2q24.3 |
pathogenic |
| NM_001165963.4(SCN1A):c.826A>C (p.Lys276Gln) |
single nucleotide variant |
Severe myoclonic epilepsy in infancy [RCV000180977] |
Chr2:166051857 [GRCh38]
Chr2:166908367 [GRCh37]
Chr2:2q24.3 |
pathogenic |
| NM_001165963.4(SCN1A):c.70G>A (p.Ala24Thr) |
single nucleotide variant |
Severe myoclonic epilepsy in infancy [RCV000180979] |
Chr2:166073552 [GRCh38]
Chr2:166930062 [GRCh37]
Chr2:2q24.3 |
pathogenic |
| NM_001165963.4(SCN1A):c.433A>G (p.Met145Val) |
single nucleotide variant |
Severe myoclonic epilepsy in infancy [RCV000180980] |
Chr2:166056451 [GRCh38]
Chr2:166912961 [GRCh37]
Chr2:2q24.3 |
pathogenic |
| NM_001165963.4(SCN1A):c.4829_4830dup (p.Val1611fs) |
microsatellite |
Severe myoclonic epilepsy in infancy [RCV000180981] |
Chr2:165994167..165994168 [GRCh38]
Chr2:166850677..166850678 [GRCh37]
Chr2:2q24.3 |
pathogenic |
| NM_001165963.4(SCN1A):c.5063G>T (p.Gly1688Val) |
single nucleotide variant |
Severe myoclonic epilepsy in infancy [RCV000180982] |
Chr2:165992212 [GRCh38]
Chr2:166848722 [GRCh37]
Chr2:2q24.3 |
pathogenic |
| NM_001165963.4(SCN1A):c.3821A>C (p.Tyr1274Ser) |
single nucleotide variant |
Severe myoclonic epilepsy in infancy [RCV000180984] |
Chr2:166012167 [GRCh38]
Chr2:166868677 [GRCh37]
Chr2:2q24.3 |
pathogenic |
| NM_001165963.4(SCN1A):c.3858G>A (p.Trp1286Ter) |
single nucleotide variant |
Severe myoclonic epilepsy in infancy [RCV000180985] |
Chr2:166012130 [GRCh38]
Chr2:166868640 [GRCh37]
Chr2:2q24.3 |
pathogenic |
| NM_006920.4(SCN1A):c.384_473del (p.Leu129_Glu158del) |
deletion |
Severe myoclonic epilepsy in infancy [RCV000180986] |
|
pathogenic |
| NM_001165963.4(SCN1A):c.3661G>C (p.Glu1221Gln) |
single nucleotide variant |
Early infantile epileptic encephalopathy with suppression bursts [RCV001035456]|Severe myoclonic epilepsy in infancy [RCV000180987] |
Chr2:166013788 [GRCh38]
Chr2:166870298 [GRCh37]
Chr2:2q24.3 |
pathogenic|uncertain significance |
| NM_001165963.4(SCN1A):c.638C>G (p.Ser213Trp) |
single nucleotide variant |
not provided [RCV000178835] |
Chr2:166052908 [GRCh38]
Chr2:166909418 [GRCh37]
Chr2:2q24.3 |
uncertain significance |
| NM_001165963.4(SCN1A):c.854C>T (p.Ala285Val) |
single nucleotide variant |
not provided [RCV000179374] |
Chr2:166051829 [GRCh38]
Chr2:166908339 [GRCh37]
Chr2:2q24.3 |
uncertain significance |
| NM_001165963.4(SCN1A):c.1194G>A (p.Thr398=) |
single nucleotide variant |
Early infantile epileptic encephalopathy with suppression bursts [RCV002515297]|not provided [RCV000180563] |
Chr2:166046953 [GRCh38]
Chr2:166903463 [GRCh37]
Chr2:2q24.3 |
likely benign|uncertain significance |
| NM_001165963.4(SCN1A):c.4389T>A (p.Phe1463Leu) |
single nucleotide variant |
not provided [RCV000176378] |
Chr2:165998125 [GRCh38]
Chr2:166854635 [GRCh37]
Chr2:2q24.3 |
uncertain significance |
| NM_001165963.4(SCN1A):c.4407T>A (p.Phe1469Leu) |
single nucleotide variant |
not provided [RCV000176379] |
Chr2:165998107 [GRCh38]
Chr2:166854617 [GRCh37]
Chr2:2q24.3 |
uncertain significance |
| NM_001165963.4(SCN1A):c.4582A>G (p.Asn1528Asp) |
single nucleotide variant |
Early infantile epileptic encephalopathy with suppression bursts [RCV003753097]|not provided [RCV000176537] |
Chr2:165994416 [GRCh38]
Chr2:166850926 [GRCh37]
Chr2:2q24.3 |
uncertain significance |
| NM_001165963.4(SCN1A):c.5389G>C (p.Ala1797Pro) |
single nucleotide variant |
not provided [RCV000302887] |
Chr2:165991886 [GRCh38]
Chr2:166848396 [GRCh37]
Chr2:2q24.3 |
likely pathogenic|uncertain significance |
| NM_001165963.4(SCN1A):c.5433T>C (p.Val1811=) |
single nucleotide variant |
Early infantile epileptic encephalopathy with suppression bursts [RCV001411647]|not provided [RCV000176628] |
Chr2:165991842 [GRCh38]
Chr2:166848352 [GRCh37]
Chr2:2q24.3 |
likely benign|uncertain significance |
| NM_001165963.4(SCN1A):c.4945C>T (p.Leu1649=) |
single nucleotide variant |
Early infantile epileptic encephalopathy with suppression bursts [RCV000553490]|Epilepsy [RCV000390173]|Generalized epilepsy with febrile seizures plus, type 2 [RCV001136465]|Inborn genetic diseases [RCV002314620]|Migraine, familial hemiplegic, 3 [RCV000351229]|not provided [RCV001727617]|not specified [RCV000176629] |
Chr2:165992330 [GRCh38]
Chr2:166848840 [GRCh37]
Chr2:2q24.3 |
benign|likely benign |
| NM_001165963.4(SCN1A):c.5286A>G (p.Gly1762=) |
single nucleotide variant |
Early infantile epileptic encephalopathy with suppression bursts [RCV000228454]|Inborn genetic diseases [RCV002314621]|not provided [RCV001689714]|not specified [RCV000176632] |
Chr2:165991989 [GRCh38]
Chr2:166848499 [GRCh37]
Chr2:2q24.3 |
likely pathogenic|benign|likely benign|conflicting interpretations of pathogenicity |
| NM_001165963.4(SCN1A):c.5557G>C (p.Asp1853His) |
single nucleotide variant |
not provided [RCV000176633] |
Chr2:165991718 [GRCh38]
Chr2:166848228 [GRCh37]
Chr2:2q24.3 |
uncertain significance |
| NM_001165963.4(SCN1A):c.5563C>T (p.Pro1855Ser) |
single nucleotide variant |
Early infantile epileptic encephalopathy with suppression bursts [RCV001057823]|not provided [RCV000484175] |
Chr2:165991712 [GRCh38]
Chr2:166848222 [GRCh37]
Chr2:2q24.3 |
likely pathogenic|conflicting interpretations of pathogenicity|uncertain significance |
| NM_001165963.4(SCN1A):c.5335A>G (p.Asn1779Asp) |
single nucleotide variant |
Early infantile epileptic encephalopathy with suppression bursts [RCV001852177]|not provided [RCV000176636] |
Chr2:165991940 [GRCh38]
Chr2:166848450 [GRCh37]
Chr2:2q24.3 |
uncertain significance |
| NM_001165963.4(SCN1A):c.4444A>C (p.Ile1482Leu) |
single nucleotide variant |
Generalized epilepsy with febrile seizures plus, type 2 [RCV000184019]|Severe myoclonic epilepsy in infancy [RCV000986878] |
Chr2:165998070 [GRCh38]
Chr2:166854580 [GRCh37]
Chr2:2q24.3 |
likely pathogenic |
| NM_001165963.4(SCN1A):c.2958_2959del (p.Phe987fs) |
microsatellite |
Severe myoclonic epilepsy in infancy [RCV000986894] |
Chr2:166036518..166036519 [GRCh38]
Chr2:166893030..166893031 [GRCh37]
Chr2:2q24.3 |
pathogenic|likely pathogenic |
| NM_001165963.4(SCN1A):c.3573T>C (p.Cys1191=) |
single nucleotide variant |
Early infantile epileptic encephalopathy with suppression bursts [RCV001477665]|Epilepsy [RCV000388144]|Generalized epilepsy with febrile seizures plus, type 2 [RCV001134607]|Inborn genetic diseases [RCV002450895]|Migraine, familial hemiplegic, 3 [RCV000349461]|not provided [RCV000636540] |
Chr2:166013876 [GRCh38]
Chr2:166870386 [GRCh37]
Chr2:2q24.3 |
likely benign|uncertain significance |
| NM_001165963.4(SCN1A):c.5634G>A (p.Glu1878=) |
single nucleotide variant |
Early infantile epileptic encephalopathy with suppression bursts [RCV000197812] |
Chr2:165991641 [GRCh38]
Chr2:166848151 [GRCh37]
Chr2:2q24.3 |
likely benign |
| NM_001165963.4(SCN1A):c.3165C>T (p.Asn1055=) |
single nucleotide variant |
Early infantile epileptic encephalopathy with suppression bursts [RCV002057016]|Inborn genetic diseases [RCV002321777]|not specified [RCV000194167] |
Chr2:166036312 [GRCh38]
Chr2:166892822 [GRCh37]
Chr2:2q24.3 |
likely benign|uncertain significance |
| NM_001165963.4(SCN1A):c.5336A>G (p.Asn1779Ser) |
single nucleotide variant |
Autosomal dominant epilepsy [RCV001192960]|not specified [RCV000194223] |
Chr2:165991939 [GRCh38]
Chr2:166848449 [GRCh37]
Chr2:2q24.3 |
likely pathogenic|uncertain significance |
| NM_001165963.4(SCN1A):c.719T>C (p.Leu240Pro) |
single nucleotide variant |
Seizure [RCV000194307] |
Chr2:166051964 [GRCh38]
Chr2:166908474 [GRCh37]
Chr2:2q24.3 |
likely pathogenic |
| NM_001165963.4(SCN1A):c.3705+10del |
deletion |
Early infantile epileptic encephalopathy with suppression bursts [RCV001512945]|SCN1A-related condition [RCV003947580]|not specified [RCV000188817] |
Chr2:166013734 [GRCh38]
Chr2:166870244 [GRCh37]
Chr2:2q24.3 |
benign|likely benign|conflicting interpretations of pathogenicity |
| NM_001165963.4(SCN1A):c.661C>G (p.Leu221Val) |
single nucleotide variant |
Early infantile epileptic encephalopathy with suppression bursts [RCV002521851]|Migraine, familial hemiplegic, 3 [RCV000763462]|not provided [RCV000255269] |
Chr2:166052885 [GRCh38]
Chr2:166909395 [GRCh37]
Chr2:2q24.3 |
likely pathogenic|uncertain significance |
| NM_001165963.1(SCN1A):c.1171-13_1171-12delTT |
deletion |
not specified [RCV000188815] |
Chr2:166046988..166046989 [GRCh38]
Chr2:166903498..166903499 [GRCh37]
Chr2:2q24.3 |
benign |
| NM_001165963.4(SCN1A):c.1378-6A>G |
single nucleotide variant |
not specified [RCV000188816] |
Chr2:166045333 [GRCh38]
Chr2:166901843 [GRCh37]
Chr2:2q24.3 |
likely benign |
| NM_001165963.4(SCN1A):c.5865A>G (p.Ile1955Met) |
single nucleotide variant |
Early infantile epileptic encephalopathy with suppression bursts [RCV001318625]|not provided [RCV001200251] |
Chr2:165991410 [GRCh38]
Chr2:166847920 [GRCh37]
Chr2:2q24.3 |
likely benign|uncertain significance |
| NM_001165963.4(SCN1A):c.265-1G>A |
single nucleotide variant |
Early infantile epileptic encephalopathy with suppression bursts [RCV001055748]|not provided [RCV000188826] |
Chr2:166058689 [GRCh38]
Chr2:166915199 [GRCh37]
Chr2:2q24.3 |
pathogenic |
| NM_001165963.4(SCN1A):c.3405A>G (p.Glu1135=) |
single nucleotide variant |
Early infantile epileptic encephalopathy with suppression bursts [RCV002517008]|not provided [RCV000188827] |
Chr2:166036072 [GRCh38]
Chr2:166892582 [GRCh37]
Chr2:2q24.3 |
likely benign|uncertain significance |
| NM_001165963.1(SCN1A):c.311C>T (p.Ala104Val) |
single nucleotide variant |
not provided [RCV000188830] |
Chr2:166058642 [GRCh38]
Chr2:166915152 [GRCh37]
Chr2:2q24.3 |
pathogenic |
| NM_001165963.4(SCN1A):c.418A>G (p.Thr140Ala) |
single nucleotide variant |
Early infantile epileptic encephalopathy with suppression bursts [RCV001221878]|not provided [RCV000188833] |
Chr2:166056466 [GRCh38]
Chr2:166912976 [GRCh37]
Chr2:2q24.3 |
uncertain significance |
| NM_001165963.4(SCN1A):c.505T>C (p.Ser169Pro) |
single nucleotide variant |
Severe myoclonic epilepsy in infancy [RCV000500830]|not provided [RCV000188835] |
Chr2:166054735 [GRCh38]
Chr2:166911245 [GRCh37]
Chr2:2q24.3 |
likely pathogenic |
| NM_001165963.4(SCN1A):c.602C>A (p.Ala201Glu) |
single nucleotide variant |
Early infantile epileptic encephalopathy with suppression bursts [RCV001992751] |
Chr2:166054638 [GRCh38]
Chr2:166911148 [GRCh37]
Chr2:2q24.3 |
pathogenic|likely pathogenic |
| NM_001165963.4(SCN1A):c.603-1G>A |
single nucleotide variant |
Early infantile epileptic encephalopathy with suppression bursts [RCV001056856]|not provided [RCV000188838] |
Chr2:166052944 [GRCh38]
Chr2:166909454 [GRCh37]
Chr2:2q24.3 |
pathogenic |
| NM_001165963.4(SCN1A):c.656G>C (p.Arg219Thr) |
single nucleotide variant |
Early infantile epileptic encephalopathy with suppression bursts [RCV002517009]|not provided [RCV000188839] |
Chr2:166052890 [GRCh38]
Chr2:166909400 [GRCh37]
Chr2:2q24.3 |
pathogenic|likely pathogenic |
| NM_001165963.4(SCN1A):c.662T>C (p.Leu221Pro) |
single nucleotide variant |
Severe myoclonic epilepsy in infancy [RCV003448282]|not provided [RCV000188840] |
Chr2:166052884 [GRCh38]
Chr2:166909394 [GRCh37]
Chr2:2q24.3 |
pathogenic|likely pathogenic |
| NM_001165963.4(SCN1A):c.748G>A (p.Val250Ile) |
single nucleotide variant |
not provided [RCV000188844] |
Chr2:166051935 [GRCh38]
Chr2:166908445 [GRCh37]
Chr2:2q24.3 |
likely pathogenic|conflicting interpretations of pathogenicity |
| NM_001165963.4(SCN1A):c.827A>T (p.Lys276Ile) |
single nucleotide variant |
not provided [RCV000188848] |
Chr2:166051856 [GRCh38]
Chr2:166908366 [GRCh37]
Chr2:2q24.3 |
likely pathogenic |
| NM_001165963.4(SCN1A):c.842C>T (p.Pro281Leu) |
single nucleotide variant |
not provided [RCV000188849] |
Chr2:166051841 [GRCh38]
Chr2:166908351 [GRCh37]
Chr2:2q24.3 |
pathogenic |
| NM_001165963.4(SCN1A):c.964+5G>A |
single nucleotide variant |
not provided [RCV000188850] |
Chr2:166051714 [GRCh38]
Chr2:166908224 [GRCh37]
Chr2:2q24.3 |
pathogenic|likely pathogenic |
| NM_001165963.4(SCN1A):c.862G>C (p.Glu288Gln) |
single nucleotide variant |
not provided [RCV000188851] |
Chr2:166051821 [GRCh38]
Chr2:166908331 [GRCh37]
Chr2:2q24.3 |
uncertain significance |
| NM_001165963.4(SCN1A):c.959A>T (p.Asp320Val) |
single nucleotide variant |
not provided [RCV000188852] |
Chr2:166051724 [GRCh38]
Chr2:166908234 [GRCh37]
Chr2:2q24.3 |
uncertain significance |
| NM_001165963.4(SCN1A):c.984G>C (p.Glu328Asp) |
single nucleotide variant |
not provided [RCV000188855] |
Chr2:166048930 [GRCh38]
Chr2:166905440 [GRCh37]
Chr2:2q24.3 |
uncertain significance |
| NM_001165963.4(SCN1A):c.995A>G (p.Asp332Gly) |
single nucleotide variant |
Early infantile epileptic encephalopathy with suppression bursts [RCV001059847]|not provided [RCV000188857] |
Chr2:166048919 [GRCh38]
Chr2:166905429 [GRCh37]
Chr2:2q24.3 |
likely pathogenic|uncertain significance |
| NM_001165963.4(SCN1A):c.1094T>C (p.Phe365Ser) |
single nucleotide variant |
Early infantile epileptic encephalopathy with suppression bursts [RCV000705694] |
Chr2:166047703 [GRCh38]
Chr2:166904213 [GRCh37]
Chr2:2q24.3 |
pathogenic|uncertain significance |
| NM_001165963.4(SCN1A):c.1112C>T (p.Ala371Val) |
single nucleotide variant |
not provided [RCV000188860] |
Chr2:166047685 [GRCh38]
Chr2:166904195 [GRCh37]
Chr2:2q24.3 |
likely pathogenic |
| NM_001165963.4(SCN1A):c.1153G>A (p.Glu385Lys) |
single nucleotide variant |
Early infantile epileptic encephalopathy with suppression bursts [RCV003072775] |
Chr2:166047644 [GRCh38]
Chr2:166904154 [GRCh37]
Chr2:2q24.3 |
pathogenic |
| NM_001165963.4(SCN1A):c.1277A>G (p.Tyr426Cys) |
single nucleotide variant |
Early infantile epileptic encephalopathy with suppression bursts [RCV001857645]|Severe myoclonic epilepsy in infancy [RCV001528187]|not provided [RCV000188864] |
Chr2:166046870 [GRCh38]
Chr2:166903380 [GRCh37]
Chr2:2q24.3 |
pathogenic|likely pathogenic |
| NM_001165963.4(SCN1A):c.1195T>G (p.Tyr399Asp) |
single nucleotide variant |
not provided [RCV000188866] |
Chr2:166046952 [GRCh38]
Chr2:166903462 [GRCh37]
Chr2:2q24.3 |
pathogenic|likely pathogenic |
| NM_001165963.4(SCN1A):c.1262T>C (p.Val421Ala) |
single nucleotide variant |
not provided [RCV000188867] |
Chr2:166046885 [GRCh38]
Chr2:166903395 [GRCh37]
Chr2:2q24.3 |
uncertain significance |
| NM_001165963.4(SCN1A):c.1348C>T (p.Gln450Ter) |
single nucleotide variant |
Early infantile epileptic encephalopathy with suppression bursts [RCV003588593]|not provided [RCV000188869] |
Chr2:166046799 [GRCh38]
Chr2:166903309 [GRCh37]
Chr2:2q24.3 |
pathogenic |
| NM_001165963.4(SCN1A):c.1662G>A (p.Gln554=) |
single nucleotide variant |
Early infantile epileptic encephalopathy with suppression bursts [RCV001857647]|not provided [RCV000188875] |
Chr2:166045043 [GRCh38]
Chr2:166901553 [GRCh37]
Chr2:2q24.3 |
pathogenic |
| NM_001165963.4(SCN1A):c.1706A>G (p.Asn569Ser) |
single nucleotide variant |
not provided [RCV000188877] |
Chr2:166044006 [GRCh38]
Chr2:166900516 [GRCh37]
Chr2:2q24.3 |
uncertain significance |
| NM_001165963.4(SCN1A):c.2035G>A (p.Asp679Asn) |
single nucleotide variant |
not provided [RCV000188885] |
Chr2:166043677 [GRCh38]
Chr2:166900187 [GRCh37]
Chr2:2q24.3 |
uncertain significance |
| NM_001165963.4(SCN1A):c.2272A>C (p.Lys758Gln) |
single nucleotide variant |
Early infantile epileptic encephalopathy with suppression bursts [RCV001320602] |
Chr2:166041374 [GRCh38]
Chr2:166897884 [GRCh37]
Chr2:2q24.3 |
pathogenic|uncertain significance |
| NM_001165963.4(SCN1A):c.2504T>C (p.Phe835Ser) |
single nucleotide variant |
Early infantile epileptic encephalopathy with suppression bursts [RCV002514042]|not provided [RCV000188890] |
Chr2:166039508 [GRCh38]
Chr2:166896018 [GRCh37]
Chr2:2q24.3 |
likely pathogenic|uncertain significance |
| NM_001165963.4(SCN1A):c.2569G>A (p.Val857Ile) |
single nucleotide variant |
not provided [RCV000188892] |
Chr2:166039443 [GRCh38]
Chr2:166895953 [GRCh37]
Chr2:2q24.3 |
likely pathogenic |
| NM_001165963.4(SCN1A):c.2681C>G (p.Thr894Ser) |
single nucleotide variant |
not provided [RCV000188893] |
Chr2:166038041 [GRCh38]
Chr2:166894551 [GRCh37]
Chr2:2q24.3 |
likely pathogenic |
| NM_001165963.4(SCN1A):c.2722G>C (p.Gly908Arg) |
single nucleotide variant |
not provided [RCV000188895] |
Chr2:166038000 [GRCh38]
Chr2:166894510 [GRCh37]
Chr2:2q24.3 |
likely pathogenic |
| NM_001165963.4(SCN1A):c.2782C>T (p.Gln928Ter) |
single nucleotide variant |
Early infantile epileptic encephalopathy with suppression bursts [RCV003753102]|not provided [RCV000188896] |
Chr2:166037940 [GRCh38]
Chr2:166894450 [GRCh37]
Chr2:2q24.3 |
pathogenic |
| NM_001165963.4(SCN1A):c.2839G>A (p.Val947Met) |
single nucleotide variant |
Early infantile epileptic encephalopathy with suppression bursts [RCV000559138]|Generalized epilepsy with febrile seizures plus, type 2 [RCV001253284]|not provided [RCV000188898] |
Chr2:166037883 [GRCh38]
Chr2:166894393 [GRCh37]
Chr2:2q24.3 |
pathogenic|likely pathogenic|conflicting interpretations of pathogenicity|uncertain significance |
| NM_001165963.4(SCN1A):c.2801T>G (p.Met934Arg) |
single nucleotide variant |
Early infantile epileptic encephalopathy with suppression bursts [RCV003094038]|Generalized epilepsy with febrile seizures plus, type 2 [RCV002250315] |
Chr2:166037921 [GRCh38]
Chr2:166894431 [GRCh37]
Chr2:2q24.3 |
pathogenic|likely pathogenic |
| NM_001165963.4(SCN1A):c.2806G>T (p.Asp936Tyr) |
single nucleotide variant |
Generalized epilepsy with febrile seizures plus, type 2 [RCV002247607]|not provided [RCV000188900] |
Chr2:166037916 [GRCh38]
Chr2:166894426 [GRCh37]
Chr2:2q24.3 |
pathogenic |
| NM_001165963.4(SCN1A):c.2939A>G (p.Asn980Ser) |
single nucleotide variant |
not provided [RCV002460962] |
Chr2:166037783 [GRCh38]
Chr2:166894293 [GRCh37]
Chr2:2q24.3 |
pathogenic|uncertain significance |
| NM_001165963.4(SCN1A):c.2966C>T (p.Ala989Val) |
single nucleotide variant |
Early infantile epileptic encephalopathy with suppression bursts [RCV001317116]|not provided [RCV000188905] |
Chr2:166036511 [GRCh38]
Chr2:166893021 [GRCh37]
Chr2:2q24.3 |
likely pathogenic|uncertain significance |
| NM_001165963.4(SCN1A):c.2994C>A (p.Asp998Glu) |
single nucleotide variant |
Developmental and epileptic encephalopathy 6B [RCV003448283]|Early infantile epileptic encephalopathy with suppression bursts [RCV002514043]|Severe myoclonic epilepsy in infancy [RCV001509553]|not provided [RCV000188907] |
Chr2:166036483 [GRCh38]
Chr2:166892993 [GRCh37]
Chr2:2q24.3 |
likely pathogenic|uncertain significance |
| NM_001165963.4(SCN1A):c.3098T>C (p.Phe1033Ser) |
single nucleotide variant |
Early infantile epileptic encephalopathy with suppression bursts [RCV002514044]|Migraine, familial hemiplegic, 3 [RCV002478662]|not provided [RCV000188909] |
Chr2:166036379 [GRCh38]
Chr2:166892889 [GRCh37]
Chr2:2q24.3 |
uncertain significance |
| NM_001165963.4(SCN1A):c.3361G>T (p.Glu1121Ter) |
single nucleotide variant |
not provided [RCV000188912] |
Chr2:166036116 [GRCh38]
Chr2:166892626 [GRCh37]
Chr2:2q24.3 |
pathogenic |
| NM_001165963.4(SCN1A):c.3429G>A (p.Glu1143=) |
single nucleotide variant |
Early infantile epileptic encephalopathy with suppression bursts [RCV001857648]|not provided [RCV000188913] |
Chr2:166036048 [GRCh38]
Chr2:166892558 [GRCh37]
Chr2:2q24.3 |
pathogenic|likely pathogenic|conflicting interpretations of pathogenicity|uncertain significance |
| NM_001165963.4(SCN1A):c.3607C>T (p.Gln1203Ter) |
single nucleotide variant |
Early infantile epileptic encephalopathy with suppression bursts [RCV001852495]|not provided [RCV000188920] |
Chr2:166013842 [GRCh38]
Chr2:166870352 [GRCh37]
Chr2:2q24.3 |
pathogenic |
| NM_001165963.4(SCN1A):c.3650A>G (p.His1217Arg) |
single nucleotide variant |
not provided [RCV000188922] |
Chr2:166013799 [GRCh38]
Chr2:166870309 [GRCh37]
Chr2:2q24.3 |
uncertain significance |
| NM_001165963.4(SCN1A):c.3683T>G (p.Ile1228Ser) |
single nucleotide variant |
Early infantile epileptic encephalopathy with suppression bursts [RCV003753103]|not provided [RCV000188923] |
Chr2:166013766 [GRCh38]
Chr2:166870276 [GRCh37]
Chr2:2q24.3 |
likely pathogenic|uncertain significance |
| NM_001165963.4(SCN1A):c.3772G>A (p.Val1258Ile) |
single nucleotide variant |
not provided [RCV000188928] |
Chr2:166012216 [GRCh38]
Chr2:166868726 [GRCh37]
Chr2:2q24.3 |
uncertain significance |
| NM_001165963.4(SCN1A):c.3879+5G>A |
single nucleotide variant |
not provided [RCV000188930] |
Chr2:166012104 [GRCh38]
Chr2:166868614 [GRCh37]
Chr2:2q24.3 |
likely pathogenic|conflicting interpretations of pathogenicity |
| NM_001165963.4(SCN1A):c.3824G>A (p.Gly1275Asp) |
single nucleotide variant |
Generalized epilepsy with febrile seizures plus, type 2 [RCV002247608]|not provided [RCV000188931] |
Chr2:166012164 [GRCh38]
Chr2:166868674 [GRCh37]
Chr2:2q24.3 |
pathogenic|likely pathogenic |
| NM_001165963.4(SCN1A):c.3850T>C (p.Trp1284Arg) |
single nucleotide variant |
Generalized epilepsy with febrile seizures plus, type 2 [RCV002247609]|Severe myoclonic epilepsy in infancy [RCV001375621]|not provided [RCV000188932] |
Chr2:166012138 [GRCh38]
Chr2:166868648 [GRCh37]
Chr2:2q24.3 |
pathogenic|likely pathogenic |
| NM_001165963.1(SCN1A):c.3918C>A (p.Tyr1306Ter) |
single nucleotide variant |
not provided [RCV000188934] |
Chr2:166009803 [GRCh38]
Chr2:166866313 [GRCh37]
Chr2:2q24.3 |
pathogenic |
| NM_001165963.1(SCN1A):c.3934A>G (p.Ile1312Val) |
single nucleotide variant |
not specified [RCV000188937] |
Chr2:166009787 [GRCh38]
Chr2:166866297 [GRCh37]
Chr2:2q24.3 |
uncertain significance |
| NM_001165963.4(SCN1A):c.3985C>T (p.Arg1329Ter) |
single nucleotide variant |
Developmental and epileptic encephalopathy, 6 [RCV002470805]|Early infantile epileptic encephalopathy with suppression bursts [RCV001385509]|Generalized epilepsy with febrile seizures plus, type 2 [RCV001194614]|Inborn genetic diseases [RCV000622874]|Severe myoclonic epilepsy in infancy [RCV000201135]|not provided [RCV000188938] |
Chr2:166009736 [GRCh38]
Chr2:166866246 [GRCh37]
Chr2:2q24.3 |
pathogenic |
| NM_001165963.4(SCN1A):c.4006G>A (p.Val1336Ile) |
single nucleotide variant |
not provided [RCV000188939] |
Chr2:166002750 [GRCh38]
Chr2:166859260 [GRCh37]
Chr2:2q24.3 |
pathogenic|uncertain significance |
| NM_001165963.4(SCN1A):c.4027G>C (p.Ala1343Pro) |
single nucleotide variant |
not provided [RCV000188941] |
Chr2:166002729 [GRCh38]
Chr2:166859239 [GRCh37]
Chr2:2q24.3 |
pathogenic |
| NM_001165963.4(SCN1A):c.4285-4A>G |
single nucleotide variant |
Early infantile epileptic encephalopathy with suppression bursts [RCV001326213]|Inborn genetic diseases [RCV002327016]|not provided [RCV000188944] |
Chr2:165999780 [GRCh38]
Chr2:166856290 [GRCh37]
Chr2:2q24.3 |
likely pathogenic|uncertain significance |
| NM_001165963.4(SCN1A):c.4285G>A (p.Ala1429Thr) |
single nucleotide variant |
Early infantile epileptic encephalopathy with suppression bursts [RCV003753104]|not provided [RCV000188945] |
Chr2:165999776 [GRCh38]
Chr2:166856286 [GRCh37]
Chr2:2q24.3 |
pathogenic |
| NM_001165963.1(SCN1A):c.4304T>G (p.Met1435Arg) |
single nucleotide variant |
not provided [RCV000188946] |
Chr2:165999757 [GRCh38]
Chr2:166856267 [GRCh37]
Chr2:2q24.3 |
pathogenic |
| NM_001165963.4(SCN1A):c.4313T>C (p.Met1438Thr) |
single nucleotide variant |
Early infantile epileptic encephalopathy with suppression bursts [RCV001898418] |
Chr2:165999748 [GRCh38]
Chr2:166856258 [GRCh37]
Chr2:2q24.3 |
pathogenic|likely pathogenic |
| NM_001165963.4(SCN1A):c.4338+5G>A |
single nucleotide variant |
Early infantile epileptic encephalopathy with suppression bursts [RCV002514046]|SCN1A-related condition [RCV003401029]|not provided [RCV000188948] |
Chr2:165999718 [GRCh38]
Chr2:166856228 [GRCh37]
Chr2:2q24.3 |
pathogenic|likely pathogenic|uncertain significance |
| NM_001165963.4(SCN1A):c.4360G>A (p.Glu1454Lys) |
single nucleotide variant |
Early infantile epileptic encephalopathy with suppression bursts [RCV002000214] |
Chr2:165998154 [GRCh38]
Chr2:166854664 [GRCh37]
Chr2:2q24.3 |
pathogenic |
| NM_001165963.4(SCN1A):c.4369C>G (p.Leu1457Val) |
single nucleotide variant |
not provided [RCV000188951] |
Chr2:165998145 [GRCh38]
Chr2:166854655 [GRCh37]
Chr2:2q24.3 |
uncertain significance |
| NM_001165963.4(SCN1A):c.4476+1A>G |
single nucleotide variant |
Early infantile epileptic encephalopathy with suppression bursts [RCV001852496]|Severe myoclonic epilepsy in infancy [RCV000201073]|not provided [RCV000188953] |
Chr2:165998037 [GRCh38]
Chr2:166854547 [GRCh37]
Chr2:2q24.3 |
pathogenic|likely pathogenic |
| NM_001165963.4(SCN1A):c.4438G>T (p.Gly1480Cys) |
single nucleotide variant |
not provided [RCV000188954] |
Chr2:165998076 [GRCh38]
Chr2:166854586 [GRCh37]
Chr2:2q24.3 |
likely pathogenic |
| NM_001165963.4(SCN1A):c.243C>G (p.Asp81Glu) |
single nucleotide variant |
not provided [RCV000188955] |
Chr2:166073379 [GRCh38]
Chr2:166929889 [GRCh37]
Chr2:2q24.3 |
likely pathogenic |
| NM_001165963.4(SCN1A):c.4476+1A>T |
single nucleotide variant |
not provided [RCV000188956] |
Chr2:165998037 [GRCh38]
Chr2:166854547 [GRCh37]
Chr2:2q24.3 |
pathogenic |
| NM_001165963.4(SCN1A):c.4493T>A (p.Ile1498Asn) |
single nucleotide variant |
not provided [RCV000505789] |
Chr2:165996101 [GRCh38]
Chr2:166852611 [GRCh37]
Chr2:2q24.3 |
likely pathogenic |
| NM_001165963.4(SCN1A):c.4511A>T (p.Gln1504Leu) |
single nucleotide variant |
not provided [RCV000188958] |
Chr2:165996083 [GRCh38]
Chr2:166852593 [GRCh37]
Chr2:2q24.3 |
likely pathogenic |
| NM_001165963.1(SCN1A):c.4529C>G (p.Ala1510Gly) |
single nucleotide variant |
not provided [RCV000188959] |
Chr2:165996065 [GRCh38]
Chr2:166852575 [GRCh37]
Chr2:2q24.3 |
pathogenic |
| NM_001165963.4(SCN1A):c.4543G>A (p.Gly1515Arg) |
single nucleotide variant |
Early infantile epileptic encephalopathy with suppression bursts [RCV003588594]|not provided [RCV000188960] |
Chr2:165996051 [GRCh38]
Chr2:166852561 [GRCh37]
Chr2:2q24.3 |
pathogenic|likely pathogenic|uncertain significance |
| NM_001165963.4(SCN1A):c.4555C>A (p.Pro1519Thr) |
single nucleotide variant |
Early infantile epileptic encephalopathy with suppression bursts [RCV000818881]|Generalized epilepsy with febrile seizures plus, type 2 [RCV001254862]|Inborn genetic diseases [RCV002517889]|not provided [RCV000188963] |
Chr2:165996039 [GRCh38]
Chr2:166852549 [GRCh37]
Chr2:2q24.3 |
pathogenic|likely pathogenic|uncertain significance |
| NM_001165963.4(SCN1A):c.4577C>G (p.Pro1526Arg) |
single nucleotide variant |
Early infantile epileptic encephalopathy with suppression bursts [RCV002514048]|not provided [RCV000188966] |
Chr2:165996017 [GRCh38]
Chr2:166852527 [GRCh37]
Chr2:2q24.3 |
pathogenic|likely pathogenic|uncertain significance |
| NM_001165963.4(SCN1A):c.4674G>A (p.Met1558Ile) |
single nucleotide variant |
not provided [RCV000188969] |
Chr2:165994324 [GRCh38]
Chr2:166850834 [GRCh37]
Chr2:2q24.3 |
likely pathogenic|uncertain significance |
| NM_001165963.4(SCN1A):c.4681G>T (p.Glu1561Ter) |
single nucleotide variant |
not provided [RCV000188970] |
Chr2:165994317 [GRCh38]
Chr2:166850827 [GRCh37]
Chr2:2q24.3 |
pathogenic |
| NM_001165963.4(SCN1A):c.4701A>G (p.Glu1567=) |
single nucleotide variant |
not provided [RCV000188971] |
Chr2:165994297 [GRCh38]
Chr2:166850807 [GRCh37]
Chr2:2q24.3 |
likely pathogenic |
| NM_001165963.4(SCN1A):c.4794T>G (p.Tyr1598Ter) |
single nucleotide variant |
not provided [RCV000188975] |
Chr2:165994204 [GRCh38]
Chr2:166850714 [GRCh37]
Chr2:2q24.3 |
pathogenic |
| NM_001165963.4(SCN1A):c.4765G>T (p.Val1589Leu) |
single nucleotide variant |
Early infantile epileptic encephalopathy with suppression bursts [RCV002514049]|not provided [RCV000188976] |
Chr2:165994233 [GRCh38]
Chr2:166850743 [GRCh37]
Chr2:2q24.3 |
uncertain significance |
| NM_001165963.1(SCN1A):c.4781C>A (p.Ser1594Tyr) |
single nucleotide variant |
not provided [RCV000188977] |
Chr2:165994217 [GRCh38]
Chr2:166850727 [GRCh37]
Chr2:2q24.3 |
pathogenic |
| NM_001165963.4(SCN1A):c.4916G>C (p.Arg1639Pro) |
single nucleotide variant |
Early infantile epileptic encephalopathy with suppression bursts [RCV001244268]|not provided [RCV000188984] |
Chr2:165992359 [GRCh38]
Chr2:166848869 [GRCh37]
Chr2:2q24.3 |
pathogenic|likely pathogenic|uncertain significance |
| NM_001165963.4(SCN1A):c.4931G>A (p.Gly1644Asp) |
single nucleotide variant |
not provided [RCV000188985] |
Chr2:165992344 [GRCh38]
Chr2:166848854 [GRCh37]
Chr2:2q24.3 |
pathogenic |
| NM_001165963.4(SCN1A):c.4995G>A (p.Met1665Ile) |
single nucleotide variant |
Early infantile epileptic encephalopathy with suppression bursts [RCV003753105]|not provided [RCV000188989] |
Chr2:165992280 [GRCh38]
Chr2:166848790 [GRCh37]
Chr2:2q24.3 |
likely pathogenic |
| NM_001165963.4(SCN1A):c.4999C>T (p.Leu1667Phe) |
single nucleotide variant |
not provided [RCV000188990] |
Chr2:165992276 [GRCh38]
Chr2:166848786 [GRCh37]
Chr2:2q24.3 |
likely pathogenic |
| NM_001165963.4(SCN1A):c.5121T>A (p.Phe1707Leu) |
single nucleotide variant |
Early infantile epileptic encephalopathy with suppression bursts [RCV000806458]|not provided [RCV000188992] |
Chr2:165992154 [GRCh38]
Chr2:166848664 [GRCh37]
Chr2:2q24.3 |
pathogenic|likely pathogenic|uncertain significance |
| NM_001165963.1(SCN1A):c.5201T>C (p.Leu1734Pro) |
single nucleotide variant |
not provided [RCV000188994] |
Chr2:165992074 [GRCh38]
Chr2:166848584 [GRCh37]
Chr2:2q24.3 |
likely pathogenic |
| NM_001165963.4(SCN1A):c.5218G>A (p.Asp1740Asn) |
single nucleotide variant |
Autosomal dominant epilepsy [RCV000781836]|Early infantile epileptic encephalopathy with suppression bursts [RCV001210054]|Inborn genetic diseases [RCV002336501]|not provided [RCV000188995] |
Chr2:165992057 [GRCh38]
Chr2:166848567 [GRCh37]
Chr2:2q24.3 |
pathogenic|likely pathogenic|conflicting interpretations of pathogenicity |
| NM_001165963.4(SCN1A):c.5261G>T (p.Gly1754Val) |
single nucleotide variant |
not provided [RCV000188997] |
Chr2:165992014 [GRCh38]
Chr2:166848524 [GRCh37]
Chr2:2q24.3 |
likely pathogenic |
| NM_001165963.4(SCN1A):c.5291T>A (p.Phe1764Tyr) |
single nucleotide variant |
Early infantile epileptic encephalopathy with suppression bursts [RCV001065456]|See cases [RCV003156083]|not provided [RCV000188998] |
Chr2:165991984 [GRCh38]
Chr2:166848494 [GRCh37]
Chr2:2q24.3 |
pathogenic|likely pathogenic|uncertain significance |
| NM_001165963.4(SCN1A):c.5361G>T (p.Glu1787Asp) |
single nucleotide variant |
not provided [RCV000189001] |
Chr2:165991914 [GRCh38]
Chr2:166848424 [GRCh37]
Chr2:2q24.3 |
likely pathogenic |
| NM_001165963.4(SCN1A):c.5416G>T (p.Glu1806Ter) |
single nucleotide variant |
not provided [RCV000189002] |
Chr2:165991859 [GRCh38]
Chr2:166848369 [GRCh37]
Chr2:2q24.3 |
pathogenic |
| NM_001165963.4(SCN1A):c.5435G>A (p.Trp1812Ter) |
single nucleotide variant |
not provided [RCV000189003] |
Chr2:165991840 [GRCh38]
Chr2:166848350 [GRCh37]
Chr2:2q24.3 |
pathogenic |
| NM_001165963.4(SCN1A):c.5567T>A (p.Met1856Lys) |
single nucleotide variant |
not provided [RCV000189007] |
Chr2:165991708 [GRCh38]
Chr2:166848218 [GRCh37]
Chr2:2q24.3 |
pathogenic |
| NM_001165963.4(SCN1A):c.5567T>C (p.Met1856Thr) |
single nucleotide variant |
Early infantile epileptic encephalopathy with suppression bursts [RCV001067049]|not provided [RCV000189008] |
Chr2:165991708 [GRCh38]
Chr2:166848218 [GRCh37]
Chr2:2q24.3 |
pathogenic|uncertain significance |
| NM_001165963.1(SCN1A):c.5582G>C (p.Arg1861Pro) |
single nucleotide variant |
not provided [RCV000189010] |
Chr2:165991693 [GRCh38]
Chr2:166848203 [GRCh37]
Chr2:2q24.3 |
likely pathogenic |
| NM_001165963.4(SCN1A):c.5620C>T (p.Arg1874Trp) |
single nucleotide variant |
Early infantile epileptic encephalopathy with suppression bursts [RCV000697361]|Generalized epilepsy with febrile seizures plus, type 2 [RCV002227087]|not provided [RCV000189011] |
Chr2:165991655 [GRCh38]
Chr2:166848165 [GRCh37]
Chr2:2q24.3 |
likely pathogenic|uncertain significance |
| NM_001165963.4(SCN1A):c.5627T>C (p.Leu1876Pro) |
single nucleotide variant |
not provided [RCV000189012] |
Chr2:165991648 [GRCh38]
Chr2:166848158 [GRCh37]
Chr2:2q24.3 |
likely pathogenic|uncertain significance |
| NM_001165963.4(SCN1A):c.5743G>A (p.Glu1915Lys) |
single nucleotide variant |
not provided [RCV000189016] |
Chr2:165991532 [GRCh38]
Chr2:166848042 [GRCh37]
Chr2:2q24.3 |
likely pathogenic|uncertain significance |
| NM_001165963.4(SCN1A):c.5746G>T (p.Glu1916Ter) |
single nucleotide variant |
not provided [RCV000189017] |
Chr2:165991529 [GRCh38]
Chr2:166848039 [GRCh37]
Chr2:2q24.3 |
pathogenic |
| NM_001165963.4(SCN1A):c.1139del (p.Thr380fs) |
deletion |
not provided [RCV000189018] |
Chr2:166047658 [GRCh38]
Chr2:166904168 [GRCh37]
Chr2:2q24.3 |
pathogenic |
| NM_001165963.4(SCN1A):c.5753C>T (p.Ser1918Phe) |
single nucleotide variant |
Early infantile epileptic encephalopathy with suppression bursts [RCV002517890]|not provided [RCV000189019] |
Chr2:165991522 [GRCh38]
Chr2:166848032 [GRCh37]
Chr2:2q24.3 |
pathogenic|likely pathogenic |
| NM_001165963.4(SCN1A):c.5806A>G (p.Lys1936Glu) |
single nucleotide variant |
not provided [RCV000189022] |
Chr2:165991469 [GRCh38]
Chr2:166847979 [GRCh37]
Chr2:2q24.3 |
likely pathogenic|uncertain significance |
| NM_001165963.4(SCN1A):c.292del (p.Ala98fs) |
deletion |
not provided [RCV000189030] |
Chr2:166058661 [GRCh38]
Chr2:166915171 [GRCh37]
Chr2:2q24.3 |
pathogenic |
| NM_001165963.4(SCN1A):c.305dup (p.Ser103fs) |
duplication |
not provided [RCV000189031] |
Chr2:166058647..166058648 [GRCh38]
Chr2:166915157..166915158 [GRCh37]
Chr2:2q24.3 |
pathogenic |
| NM_001165963.4(SCN1A):c.368del (p.Lys123fs) |
deletion |
not provided [RCV000189032] |
Chr2:166058585 [GRCh38]
Chr2:166915095 [GRCh37]
Chr2:2q24.3 |
pathogenic |
| NM_001165963.4(SCN1A):c.476del (p.Tyr159fs) |
deletion |
not provided [RCV000189033] |
Chr2:166054764 [GRCh38]
Chr2:166911274 [GRCh37]
Chr2:2q24.3 |
pathogenic |
| NM_001165963.4(SCN1A):c.602+2dup |
duplication |
Early infantile epileptic encephalopathy with suppression bursts [RCV000456491]|not provided [RCV000189034] |
Chr2:166054635..166054636 [GRCh38]
Chr2:166911145..166911146 [GRCh37]
Chr2:2q24.3 |
pathogenic|likely pathogenic|uncertain significance |
| NM_001165963.4(SCN1A):c.1192del (p.Thr398fs) |
deletion |
not provided [RCV000189035] |
Chr2:166046955 [GRCh38]
Chr2:166903465 [GRCh37]
Chr2:2q24.3 |
pathogenic |
| NM_001165963.4(SCN1A):c.1247_1248insGTAGA (p.Asn416delinsLysTer) |
insertion |
not provided [RCV000189036] |
Chr2:166046899..166046900 [GRCh38]
Chr2:166903409..166903410 [GRCh37]
Chr2:2q24.3 |
pathogenic |
| NM_001165963.4(SCN1A):c.1430del (p.Gly477fs) |
deletion |
not provided [RCV000189037] |
Chr2:166045275 [GRCh38]
Chr2:166901785 [GRCh37]
Chr2:2q24.3 |
pathogenic |
| NM_001165963.4(SCN1A):c.1518_1522del (p.Lys507fs) |
deletion |
not provided [RCV000189038] |
Chr2:166045183..166045187 [GRCh38]
Chr2:166901693..166901697 [GRCh37]
Chr2:2q24.3 |
pathogenic |
| NM_001165963.4(SCN1A):c.1537dup (p.Glu513fs) |
duplication |
not provided [RCV000189039] |
Chr2:166045167..166045168 [GRCh38]
Chr2:166901677..166901678 [GRCh37]
Chr2:2q24.3 |
pathogenic |
| NM_001165963.4(SCN1A):c.1739_1742dup (p.Lys582fs) |
duplication |
not provided [RCV000189040] |
Chr2:166043969..166043970 [GRCh38]
Chr2:166900479..166900480 [GRCh37]
Chr2:2q24.3 |
pathogenic |
| NM_001165963.4(SCN1A):c.1787_1789del (p.Ser596del) |
deletion |
Early infantile epileptic encephalopathy with suppression bursts [RCV001857649]|not specified [RCV000189041] |
Chr2:166043923..166043925 [GRCh38]
Chr2:166900433..166900435 [GRCh37]
Chr2:2q24.3 |
uncertain significance |
| NM_001165963.4(SCN1A):c.1819del (p.Ser607fs) |
deletion |
not provided [RCV000189042] |
Chr2:166043893 [GRCh38]
Chr2:166900403 [GRCh37]
Chr2:2q24.3 |
pathogenic |
| NM_001165963.4(SCN1A):c.1850_1851delinsAT (p.Arg617Asn) |
indel |
not specified [RCV000189043] |
Chr2:166043861..166043862 [GRCh38]
Chr2:166900371..166900372 [GRCh37]
Chr2:2q24.3 |
uncertain significance |
| NM_001165963.4(SCN1A):c.1852del (p.Arg618fs) |
deletion |
Early infantile epileptic encephalopathy with suppression bursts [RCV002517891]|not provided [RCV000189044] |
Chr2:166043860 [GRCh38]
Chr2:166900370 [GRCh37]
Chr2:2q24.3 |
pathogenic |
| NM_001165963.4(SCN1A):c.2569del (p.Val857fs) |
deletion |
Early infantile epileptic encephalopathy with suppression bursts [RCV003588596]|not provided [RCV000189045] |
Chr2:166039443 [GRCh38]
Chr2:166895953 [GRCh37]
Chr2:2q24.3 |
pathogenic |
| NM_001165963.4(SCN1A):c.2339_2340insTAT (p.Leu780delinsPheIle) |
insertion |
not provided [RCV000189046] |
Chr2:166041306..166041307 [GRCh38]
Chr2:166897816..166897817 [GRCh37]
Chr2:2q24.3 |
pathogenic |
| NM_001165963.4(SCN1A):c.2994del (p.Asp998fs) |
deletion |
not provided [RCV000189047] |
Chr2:166036483 [GRCh38]
Chr2:166892993 [GRCh37]
Chr2:2q24.3 |
pathogenic |
| NM_001165963.4(SCN1A):c.3553del (p.Cys1185fs) |
deletion |
not provided [RCV000189048] |
Chr2:166013896 [GRCh38]
Chr2:166870406 [GRCh37]
Chr2:2q24.3 |
pathogenic |
| NM_001165963.4(SCN1A):c.3165CAA[1] (p.Asn1056del) |
microsatellite |
not specified [RCV000189049] |
Chr2:166036307..166036309 [GRCh38]
Chr2:166892817..166892819 [GRCh37]
Chr2:2q24.3 |
uncertain significance |
| NM_001165963.4(SCN1A):c.3268dup (p.Ser1090fs) |
duplication |
not provided [RCV000189050] |
Chr2:166036208..166036209 [GRCh38]
Chr2:166892718..166892719 [GRCh37]
Chr2:2q24.3 |
pathogenic |
| NM_001165963.4(SCN1A):c.3409del (p.Asp1137fs) |
deletion |
not provided [RCV000189051] |
Chr2:166036068 [GRCh38]
Chr2:166892578 [GRCh37]
Chr2:2q24.3 |
pathogenic |
| NM_001165963.4(SCN1A):c.3724_3725dup (p.Asp1243fs) |
microsatellite |
Early infantile epileptic encephalopathy with suppression bursts [RCV000463766]|not provided [RCV000189052] |
Chr2:166012262..166012263 [GRCh38]
Chr2:166868772..166868773 [GRCh37]
Chr2:2q24.3 |
pathogenic |
| NM_001165963.4(SCN1A):c.3776dup (p.Thr1260fs) |
duplication |
not provided [RCV000189053] |
Chr2:166012211..166012212 [GRCh38]
Chr2:166868721..166868722 [GRCh37]
Chr2:2q24.3 |
pathogenic |
| NM_001165963.4(SCN1A):c.3853dup (p.Cys1285fs) |
duplication |
not provided [RCV000189054] |
Chr2:166012134..166012135 [GRCh38]
Chr2:166868644..166868645 [GRCh37]
Chr2:2q24.3 |
pathogenic |
| NM_001165963.4(SCN1A):c.140del (p.Asn47fs) |
deletion |
not provided [RCV000189055] |
Chr2:166073482 [GRCh38]
Chr2:166929992 [GRCh37]
Chr2:2q24.3 |
pathogenic |
| NM_001165963.4(SCN1A):c.141del (p.Asn47fs) |
deletion |
Migraine, familial hemiplegic, 3 [RCV002500578]|not provided [RCV000189056] |
Chr2:166073481 [GRCh38]
Chr2:166929991 [GRCh37]
Chr2:2q24.3 |
pathogenic |
| NM_001165963.4(SCN1A):c.4166del (p.Asp1389fs) |
deletion |
not provided [RCV000189057] |
Chr2:166002590 [GRCh38]
Chr2:166859100 [GRCh37]
Chr2:2q24.3 |
pathogenic |
| NM_001165963.4(SCN1A):c.4216dup (p.Ala1406fs) |
duplication |
not provided [RCV000189058] |
Chr2:166002539..166002540 [GRCh38]
Chr2:166859049..166859050 [GRCh37]
Chr2:2q24.3 |
pathogenic |
| NM_001165963.4(SCN1A):c.4318del (p.Ala1440fs) |
deletion |
not provided [RCV000189059] |
Chr2:165999743 [GRCh38]
Chr2:166856253 [GRCh37]
Chr2:2q24.3 |
pathogenic |
| NM_001165963.4(SCN1A):c.4777_4778del (p.Ile1593fs) |
deletion |
not provided [RCV000189060] |
Chr2:165994220..165994221 [GRCh38]
Chr2:166850730..166850731 [GRCh37]
Chr2:2q24.3 |
pathogenic |
| NM_001165963.4(SCN1A):c.4548del (p.Lys1518fs) |
deletion |
not provided [RCV000189061] |
Chr2:165996046 [GRCh38]
Chr2:166852556 [GRCh37]
Chr2:2q24.3 |
pathogenic|likely pathogenic |
| NM_001165963.4(SCN1A):c.4554dup (p.Pro1519fs) |
duplication |
Early infantile epileptic encephalopathy with suppression bursts [RCV002517892]|Migraine, familial hemiplegic, 3 [RCV002281570]|Seizure [RCV000502228]|not provided [RCV000189062] |
Chr2:165996039..165996040 [GRCh38]
Chr2:166852549..166852550 [GRCh37]
Chr2:2q24.3 |
pathogenic |
| NM_001165963.4(SCN1A):c.4821del (p.Phe1607fs) |
deletion |
not provided [RCV000189063] |
Chr2:165994177 [GRCh38]
Chr2:166850687 [GRCh37]
Chr2:2q24.3 |
pathogenic |
| NM_001165963.4(SCN1A):c.4896dup (p.Thr1633fs) |
duplication |
not provided [RCV000189064] |
Chr2:165992378..165992379 [GRCh38]
Chr2:166848888..166848889 [GRCh37]
Chr2:2q24.3 |
pathogenic |
| NM_001165963.4(SCN1A):c.5273_5277del (p.Asn1758fs) |
deletion |
Early infantile epileptic encephalopathy with suppression bursts [RCV001857650]|not provided [RCV000189066] |
Chr2:165991998..165992002 [GRCh38]
Chr2:166848508..166848512 [GRCh37]
Chr2:2q24.3 |
pathogenic |
| NM_001165963.4(SCN1A):c.5708_5711dup (p.Pro1905fs) |
duplication |
Early infantile epileptic encephalopathy with suppression bursts [RCV001387543]|not provided [RCV000189068] |
Chr2:165991563..165991564 [GRCh38]
Chr2:166848073..166848074 [GRCh37]
Chr2:2q24.3 |
pathogenic |
| NM_001165963.4(SCN1A):c.5746del (p.Glu1916fs) |
deletion |
not provided [RCV000189069] |
Chr2:165991529 [GRCh38]
Chr2:166848039 [GRCh37]
Chr2:2q24.3 |
pathogenic |
| NM_001165963.4(SCN1A):c.5770_5790del (p.Arg1924_Leu1930del) |
deletion |
not specified [RCV000189070] |
Chr2:165991485..165991505 [GRCh38]
Chr2:166847995..166848015 [GRCh37]
Chr2:2q24.3 |
uncertain significance |
| NM_001165963.4(SCN1A):c.314C>T (p.Thr105Ile) |
single nucleotide variant |
not provided [RCV000189071] |
Chr2:166058639 [GRCh38]
Chr2:166915149 [GRCh37]
Chr2:2q24.3 |
pathogenic|likely pathogenic |
| NM_001165963.4(SCN1A):c.472G>C (p.Glu158Gln) |
single nucleotide variant |
Early infantile epileptic encephalopathy with suppression bursts [RCV000636394]|Severe myoclonic epilepsy in infancy [RCV001252613]|not provided [RCV000189072] |
Chr2:166056412 [GRCh38]
Chr2:166912922 [GRCh37]
Chr2:2q24.3 |
likely pathogenic|uncertain significance |
| NM_001165963.4(SCN1A):c.671T>C (p.Leu224Ser) |
single nucleotide variant |
Generalized epilepsy with febrile seizures plus, type 2 [RCV003985290]|not provided [RCV000189073] |
Chr2:166052875 [GRCh38]
Chr2:166909385 [GRCh37]
Chr2:2q24.3 |
pathogenic|likely pathogenic |
| NM_001165963.4(SCN1A):c.739C>G (p.Leu247Val) |
single nucleotide variant |
not provided [RCV000189075] |
Chr2:166051944 [GRCh38]
Chr2:166908454 [GRCh37]
Chr2:2q24.3 |
pathogenic |
| NM_001165963.4(SCN1A):c.971A>G (p.His324Arg) |
single nucleotide variant |
Early infantile epileptic encephalopathy with suppression bursts [RCV001060675]|not provided [RCV000189076] |
Chr2:166048943 [GRCh38]
Chr2:166905453 [GRCh37]
Chr2:2q24.3 |
likely pathogenic|uncertain significance |
| NM_001165963.4(SCN1A):c.1204T>C (p.Phe402Leu) |
single nucleotide variant |
not provided [RCV000189079] |
Chr2:166046943 [GRCh38]
Chr2:166903453 [GRCh37]
Chr2:2q24.3 |
likely pathogenic|conflicting interpretations of pathogenicity |
| NM_001165963.4(SCN1A):c.2354T>C (p.Met785Thr) |
single nucleotide variant |
not provided [RCV000189083] |
Chr2:166041292 [GRCh38]
Chr2:166897802 [GRCh37]
Chr2:2q24.3 |
likely pathogenic |
| NM_001165963.4(SCN1A):c.55A>G (p.Arg19Gly) |
single nucleotide variant |
not provided [RCV000189087] |
Chr2:166073567 [GRCh38]
Chr2:166930077 [GRCh37]
Chr2:2q24.3 |
uncertain significance |
| NM_001165963.4(SCN1A):c.182T>C (p.Leu61Pro) |
single nucleotide variant |
Sudden unexplained death in childhood [RCV001787423] |
Chr2:166073440 [GRCh38]
Chr2:166929950 [GRCh37]
Chr2:2q24.3 |
likely pathogenic |
| NM_001165963.4(SCN1A):c.5131G>A (p.Gly1711Ser) |
single nucleotide variant |
Early infantile epileptic encephalopathy with suppression bursts [RCV000807986]|Inborn genetic diseases [RCV002345678]|not provided [RCV000189090] |
Chr2:165992144 [GRCh38]
Chr2:166848654 [GRCh37]
Chr2:2q24.3 |
likely pathogenic|uncertain significance |
| NM_001165963.4(SCN1A):c.5168C>T (p.Ser1723Phe) |
single nucleotide variant |
SCN1A Seizure Disorders [RCV001265591]|not provided [RCV000189091] |
Chr2:165992107 [GRCh38]
Chr2:166848617 [GRCh37]
Chr2:2q24.3 |
pathogenic|likely pathogenic |
| NM_001165963.4(SCN1A):c.5189T>C (p.Leu1730Pro) |
single nucleotide variant |
Early infantile epileptic encephalopathy with suppression bursts [RCV001056579]|not provided [RCV000189092] |
Chr2:165992086 [GRCh38]
Chr2:166848596 [GRCh37]
Chr2:2q24.3 |
likely pathogenic|uncertain significance |
| NM_001165963.4(SCN1A):c.5326G>A (p.Val1776Ile) |
single nucleotide variant |
not provided [RCV000189093] |
Chr2:165991949 [GRCh38]
Chr2:166848459 [GRCh37]
Chr2:2q24.3 |
uncertain significance |
| NM_001165963.1(SCN1A):c.5678T>C (p.Phe1893Ser) |
single nucleotide variant |
not specified [RCV000189094] |
Chr2:165991597 [GRCh38]
Chr2:166848107 [GRCh37]
Chr2:2q24.3 |
uncertain significance |
| NM_001165963.4(SCN1A):c.5710C>T (p.Gln1904Ter) |
single nucleotide variant |
Early infantile epileptic encephalopathy with suppression bursts [RCV001387544]|not provided [RCV000189095] |
Chr2:165991565 [GRCh38]
Chr2:166848075 [GRCh37]
Chr2:2q24.3 |
pathogenic |
| NM_001165963.4(SCN1A):c.5755G>C (p.Ala1919Pro) |
single nucleotide variant |
not provided [RCV000189096] |
Chr2:165991520 [GRCh38]
Chr2:166848030 [GRCh37]
Chr2:2q24.3 |
uncertain significance |
| NM_001165963.4(SCN1A):c.942del (p.Asp313_Trp314insTer) |
deletion |
not provided [RCV000189097] |
Chr2:166051741 [GRCh38]
Chr2:166908251 [GRCh37]
Chr2:2q24.3 |
pathogenic |
| NM_001165963.4(SCN1A):c.1053dup (p.Val352fs) |
duplication |
not provided [RCV000189098] |
Chr2:166047743..166047744 [GRCh38]
Chr2:166904253..166904254 [GRCh37]
Chr2:2q24.3 |
pathogenic |
| NM_001165963.4(SCN1A):c.3966_3976del (p.Arg1322fs) |
deletion |
not provided [RCV000189099] |
Chr2:166009745..166009755 [GRCh38]
Chr2:166866255..166866265 [GRCh37]
Chr2:2q24.3 |
pathogenic |
| NM_001165963.1(SCN1A):c.602+7_602+8insTG |
insertion |
not specified [RCV000188805] |
Chr2:166054630..166054631 [GRCh38]
Chr2:166911140..166911141 [GRCh37]
Chr2:2q24.3 |
benign |
| NM_001165963.4(SCN1A):c.1065T>C (p.Gly355=) |
single nucleotide variant |
Early infantile epileptic encephalopathy with suppression bursts [RCV001505335]|not specified [RCV000188814] |
Chr2:166047732 [GRCh38]
Chr2:166904242 [GRCh37]
Chr2:2q24.3 |
benign|likely benign|conflicting interpretations of pathogenicity |
| NM_001165963.4(SCN1A):c.3705+12T>G |
single nucleotide variant |
Early infantile epileptic encephalopathy with suppression bursts [RCV002054225]|Generalized epilepsy with febrile seizures plus, type 2 [RCV001134605]|Migraine, familial hemiplegic, 3 [RCV001134606]|Migraine, familial hemiplegic, 3 [RCV002492871]|not provided [RCV000589368]|not specified [RCV000188818] |
Chr2:166013732 [GRCh38]
Chr2:166870242 [GRCh37]
Chr2:2q24.3 |
benign|likely benign |
| NM_001165963.4(SCN1A):c.4317T>C (p.Tyr1439=) |
single nucleotide variant |
Early infantile epileptic encephalopathy with suppression bursts [RCV001499648]|Inborn genetic diseases [RCV002327015]|not specified [RCV000188819] |
Chr2:165999744 [GRCh38]
Chr2:166856254 [GRCh37]
Chr2:2q24.3 |
benign|likely benign |
| NM_001165963.4(SCN1A):c.5346C>T (p.Ile1782=) |
single nucleotide variant |
Early infantile epileptic encephalopathy with suppression bursts [RCV001430872]|not specified [RCV000188821] |
Chr2:165991929 [GRCh38]
Chr2:166848439 [GRCh37]
Chr2:2q24.3 |
benign|likely benign|conflicting interpretations of pathogenicity |
| NM_001165963.4(SCN1A):c.*20A>G |
single nucleotide variant |
not specified [RCV000188824] |
Chr2:165991225 [GRCh38]
Chr2:166847735 [GRCh37]
Chr2:2q24.3 |
benign |
| NM_001165963.4(SCN1A):c.2770G>A (p.Ala924Thr) |
single nucleotide variant |
Early infantile epileptic encephalopathy with suppression bursts [RCV001417377]|Global developmental delay [RCV001270122]|Inborn genetic diseases [RCV002433853]|SCN1A-related condition [RCV003947581]|not provided [RCV000188825] |
Chr2:166037952 [GRCh38]
Chr2:166894462 [GRCh37]
Chr2:2q24.3 |
likely benign|conflicting interpretations of pathogenicity|uncertain significance |
| NM_001165963.4(SCN1A):c.434T>A (p.Met145Lys) |
single nucleotide variant |
not provided [RCV000188834] |
Chr2:166056450 [GRCh38]
Chr2:166912960 [GRCh37]
Chr2:2q24.3 |
pathogenic |
| NM_001165963.4(SCN1A):c.602+1G>C |
single nucleotide variant |
Early infantile epileptic encephalopathy with suppression bursts [RCV000804719]|not provided [RCV000188837] |
Chr2:166054637 [GRCh38]
Chr2:166911147 [GRCh37]
Chr2:2q24.3 |
pathogenic |
| NM_001165963.4(SCN1A):c.778G>A (p.Val260Ile) |
single nucleotide variant |
Early infantile epileptic encephalopathy with suppression bursts [RCV000794006] |
Chr2:166051905 [GRCh38]
Chr2:166908415 [GRCh37]
Chr2:2q24.3 |
uncertain significance |
| NM_001165963.4(SCN1A):c.791T>C (p.Ile264Thr) |
single nucleotide variant |
Early infantile epileptic encephalopathy with suppression bursts [RCV001052796]|not provided [RCV000188847] |
Chr2:166051892 [GRCh38]
Chr2:166908402 [GRCh37]
Chr2:2q24.3 |
likely pathogenic|conflicting interpretations of pathogenicity|uncertain significance |
| NM_001165963.4(SCN1A):c.986G>T (p.Gly329Val) |
single nucleotide variant |
Generalized epilepsy with febrile seizures plus, type 2 [RCV000677680]|Severe myoclonic epilepsy in infancy [RCV000986909]|not provided [RCV000188856] |
Chr2:166048928 [GRCh38]
Chr2:166905438 [GRCh37]
Chr2:2q24.3 |
pathogenic|likely pathogenic|conflicting interpretations of pathogenicity|uncertain significance |
| NM_001165963.4(SCN1A):c.1076A>T (p.Asn359Ile) |
single nucleotide variant |
not provided [RCV000188858] |
Chr2:166047721 [GRCh38]
Chr2:166904231 [GRCh37]
Chr2:2q24.3 |
pathogenic |
| NM_001165963.4(SCN1A):c.1193C>T (p.Thr398Met) |
single nucleotide variant |
Early infantile epileptic encephalopathy with suppression bursts [RCV001320100]|Generalized epilepsy with febrile seizures plus, type 2 [RCV001134812]|Migraine, familial hemiplegic, 3 [RCV001134813]|Severe myoclonic epilepsy in infancy [RCV001775093]|not provided [RCV000188865] |
Chr2:166046954 [GRCh38]
Chr2:166903464 [GRCh37]
Chr2:2q24.3 |
pathogenic|likely pathogenic|uncertain significance |
| NM_001165963.4(SCN1A):c.1339A>G (p.Met447Val) |
single nucleotide variant |
Early infantile epileptic encephalopathy with suppression bursts [RCV002514041]|not provided [RCV000188868] |
Chr2:166046808 [GRCh38]
Chr2:166903318 [GRCh37]
Chr2:2q24.3 |
uncertain significance |
| NM_001165963.4(SCN1A):c.1485G>T (p.Lys495Asn) |
single nucleotide variant |
not provided [RCV000188871] |
Chr2:166045220 [GRCh38]
Chr2:166901730 [GRCh37]
Chr2:2q24.3 |
uncertain significance |
| NM_001165963.4(SCN1A):c.1499G>A (p.Arg500Gln) |
single nucleotide variant |
Early infantile epileptic encephalopathy with suppression bursts [RCV001408607]|not provided [RCV000734751] |
Chr2:166045206 [GRCh38]
Chr2:166901716 [GRCh37]
Chr2:2q24.3 |
likely benign|conflicting interpretations of pathogenicity|uncertain significance |
| NM_001165963.4(SCN1A):c.1582A>T (p.Ser528Cys) |
single nucleotide variant |
Early infantile epileptic encephalopathy with suppression bursts [RCV000686709]|not provided [RCV000656973] |
Chr2:166045123 [GRCh38]
Chr2:166901633 [GRCh37]
Chr2:2q24.3 |
likely benign|uncertain significance |
| NM_001165963.4(SCN1A):c.1604G>A (p.Arg535His) |
single nucleotide variant |
Early infantile epileptic encephalopathy with suppression bursts [RCV001857646]|Inborn genetic diseases [RCV002399702]|Severe myoclonic epilepsy in infancy [RCV000585879]|not provided [RCV000188874] |
Chr2:166045101 [GRCh38]
Chr2:166901611 [GRCh37]
Chr2:2q24.3 |
likely benign|uncertain significance |
| NM_001165963.4(SCN1A):c.1765G>A (p.Asp589Asn) |
single nucleotide variant |
Early infantile epileptic encephalopathy with suppression bursts [RCV002586871] |
Chr2:166043947 [GRCh38]
Chr2:166900457 [GRCh37]
Chr2:2q24.3 |
uncertain significance |
| NM_001165963.4(SCN1A):c.1790C>A (p.Thr597Asn) |
single nucleotide variant |
Early infantile epileptic encephalopathy with suppression bursts [RCV000691458]|Inborn genetic diseases [RCV002408845]|not provided [RCV000725552] |
Chr2:166043922 [GRCh38]
Chr2:166900432 [GRCh37]
Chr2:2q24.3 |
likely benign|conflicting interpretations of pathogenicity|uncertain significance |
| NM_001165963.4(SCN1A):c.1810C>T (p.Arg604Cys) |
single nucleotide variant |
Early infantile epileptic encephalopathy with suppression bursts [RCV001343972]|not provided [RCV000188881] |
Chr2:166043902 [GRCh38]
Chr2:166900412 [GRCh37]
Chr2:2q24.3 |
uncertain significance |
| NM_001165963.4(SCN1A):c.1814G>C (p.Arg605Thr) |
single nucleotide variant |
Early infantile epileptic encephalopathy with suppression bursts [RCV001060321]|Inborn genetic diseases [RCV002408846]|not provided [RCV000188882] |
Chr2:166043898 [GRCh38]
Chr2:166900408 [GRCh37]
Chr2:2q24.3 |
likely benign|uncertain significance |
| NM_001165963.4(SCN1A):c.1882T>A (p.Ser628Thr) |
single nucleotide variant |
Early infantile epileptic encephalopathy with suppression bursts [RCV000457774]|Epilepsy [RCV000392107]|Generalized epilepsy with febrile seizures plus, type 2 [RCV001132419]|Migraine, familial hemiplegic, 3 [RCV000300269]|not provided [RCV000188883] |
Chr2:166043830 [GRCh38]
Chr2:166900340 [GRCh37]
Chr2:2q24.3 |
uncertain significance |
| NM_001165963.4(SCN1A):c.2135G>A (p.Arg712Gln) |
single nucleotide variant |
Early infantile epileptic encephalopathy with suppression bursts [RCV001911706]|not provided [RCV003136283] |
Chr2:166042333 [GRCh38]
Chr2:166898843 [GRCh37]
Chr2:2q24.3 |
likely pathogenic|uncertain significance |
| NM_001165963.4(SCN1A):c.2378C>T (p.Thr793Met) |
single nucleotide variant |
Early infantile epileptic encephalopathy with suppression bursts [RCV001394862]|not provided [RCV000188889] |
Chr2:166041268 [GRCh38]
Chr2:166897778 [GRCh37]
Chr2:2q24.3 |
likely benign|conflicting interpretations of pathogenicity|uncertain significance |
| NM_001165963.4(SCN1A):c.2552A>G (p.Asn851Ser) |
single nucleotide variant |
Early infantile epileptic encephalopathy with suppression bursts [RCV001852494]|Severe myoclonic epilepsy in infancy [RCV001527713]|not provided [RCV000188891] |
Chr2:166039460 [GRCh38]
Chr2:166895970 [GRCh37]
Chr2:2q24.3 |
uncertain significance |
| NM_001165963.4(SCN1A):c.2877T>A (p.Cys959Ter) |
single nucleotide variant |
not provided [RCV000188901] |
Chr2:166037845 [GRCh38]
Chr2:166894355 [GRCh37]
Chr2:2q24.3 |
pathogenic |
| NM_001165963.4(SCN1A):c.2926A>C (p.Met976Leu) |
single nucleotide variant |
Early infantile epileptic encephalopathy with suppression bursts [RCV001042079]|Inborn genetic diseases [RCV002314752]|not provided [RCV001356386] |
Chr2:166037796 [GRCh38]
Chr2:166894306 [GRCh37]
Chr2:2q24.3 |
likely benign|uncertain significance |
| NM_001165963.4(SCN1A):c.3220G>A (p.Asp1074Asn) |
single nucleotide variant |
Early infantile epileptic encephalopathy with suppression bursts [RCV001229261]|not provided [RCV001311216] |
Chr2:166036257 [GRCh38]
Chr2:166892767 [GRCh37]
Chr2:2q24.3 |
conflicting interpretations of pathogenicity|uncertain significance |
| NM_001165963.4(SCN1A):c.68C>A (p.Ala23Glu) |
single nucleotide variant |
Early infantile epileptic encephalopathy with suppression bursts [RCV001061719]|not provided [RCV000188916] |
Chr2:166073554 [GRCh38]
Chr2:166930064 [GRCh37]
Chr2:2q24.3 |
uncertain significance |
| NM_001165963.4(SCN1A):c.68C>T (p.Ala23Val) |
single nucleotide variant |
Early infantile epileptic encephalopathy with suppression bursts [RCV001450564]|Inborn genetic diseases [RCV002362988]|not provided [RCV000534453]|not specified [RCV000188917] |
Chr2:166073554 [GRCh38]
Chr2:166930064 [GRCh37]
Chr2:2q24.3 |
benign|likely benign|uncertain significance |
| NM_001165963.4(SCN1A):c.82C>T (p.Arg28Cys) |
single nucleotide variant |
Early infantile epileptic encephalopathy with suppression bursts [RCV001241778]|Generalized epilepsy with febrile seizures plus, type 2 [RCV002225093]|Migraine, familial hemiplegic, 3 [RCV002485282]|not provided [RCV000188919] |
Chr2:166073540 [GRCh38]
Chr2:166930050 [GRCh37]
Chr2:2q24.3 |
pathogenic|likely pathogenic|uncertain significance |
| NM_001165963.4(SCN1A):c.3556G>T (p.Val1186Leu) |
single nucleotide variant |
Early infantile epileptic encephalopathy with suppression bursts [RCV001407708]|Inborn genetic diseases [RCV002517888]|not provided [RCV000188921] |
Chr2:166013893 [GRCh38]
Chr2:166870403 [GRCh37]
Chr2:2q24.3 |
likely benign|conflicting interpretations of pathogenicity|uncertain significance |
| NM_001165963.4(SCN1A):c.3749C>T (p.Thr1250Met) |
single nucleotide variant |
Early infantile epileptic encephalopathy with suppression bursts [RCV001413415]|Inborn genetic diseases [RCV002517010]|SCN1A-related condition [RCV003947582]|Severe myoclonic epilepsy in infancy [RCV000986886]|not provided [RCV000188927]|not specified [RCV003235112] |
Chr2:166012239 [GRCh38]
Chr2:166868749 [GRCh37]
Chr2:2q24.3 |
benign|likely benign|conflicting interpretations of pathogenicity|uncertain significance |
| NM_001165963.4(SCN1A):c.3899C>T (p.Thr1300Ile) |
single nucleotide variant |
Early infantile epileptic encephalopathy with suppression bursts [RCV000471568]|Inborn genetic diseases [RCV002314753]|Intellectual disability [RCV001252612]|Severe myoclonic epilepsy in infancy [RCV000986884]|not provided [RCV000724898]|not specified [RCV000188933] |
Chr2:166009822 [GRCh38]
Chr2:166866332 [GRCh37]
Chr2:2q24.3 |
likely benign|conflicting interpretations of pathogenicity|uncertain significance |
| NM_001165963.4(SCN1A):c.4297G>C (p.Gly1433Arg) |
single nucleotide variant |
Early infantile epileptic encephalopathy with suppression bursts [RCV002514045]|not provided [RCV000188935] |
Chr2:165999764 [GRCh38]
Chr2:166856274 [GRCh37]
Chr2:2q24.3 |
pathogenic |
| NM_001165963.4(SCN1A):c.4016C>A (p.Ala1339Asp) |
single nucleotide variant |
Early infantile epileptic encephalopathy with suppression bursts [RCV001222481]|not provided [RCV000188940] |
Chr2:166002740 [GRCh38]
Chr2:166859250 [GRCh37]
Chr2:2q24.3 |
pathogenic |
| NM_001165963.4(SCN1A):c.4162G>A (p.Glu1388Lys) |
single nucleotide variant |
Early infantile epileptic encephalopathy with suppression bursts [RCV000814902]|Inborn genetic diseases [RCV002517011]|Migraine, familial hemiplegic, 3 [RCV001328554]|not provided [RCV000188943] |
Chr2:166002594 [GRCh38]
Chr2:166859104 [GRCh37]
Chr2:2q24.3 |
likely benign|uncertain significance |
| NM_001165963.4(SCN1A):c.4345C>T (p.Leu1449Phe) |
single nucleotide variant |
Early infantile epileptic encephalopathy with suppression bursts [RCV001211105]|not provided [RCV000766760]|not specified [RCV000188949] |
Chr2:165998169 [GRCh38]
Chr2:166854679 [GRCh37]
Chr2:2q24.3 |
likely benign|uncertain significance |
| NM_001165963.4(SCN1A):c.4547C>A (p.Ser1516Ter) |
single nucleotide variant |
Early infantile epileptic encephalopathy with suppression bursts [RCV001050764]|Generalized epilepsy with febrile seizures plus, type 2 [RCV003448284]|Migraine, familial hemiplegic, 3 [RCV000763458]|Severe myoclonic epilepsy in infancy [RCV000416525]|not provided [RCV000188961] |
Chr2:165996047 [GRCh38]
Chr2:166852557 [GRCh37]
Chr2:2q24.3 |
pathogenic |
| NM_001165963.4(SCN1A):c.4556C>T (p.Pro1519Leu) |
single nucleotide variant |
Early infantile epileptic encephalopathy with suppression bursts [RCV001085148]|Inborn genetic diseases [RCV002317151]|Severe myoclonic epilepsy in infancy [RCV000986876]|not provided [RCV000188964] |
Chr2:165996038 [GRCh38]
Chr2:166852548 [GRCh37]
Chr2:2q24.3 |
likely pathogenic|benign|likely benign|conflicting interpretations of pathogenicity|uncertain significance |
| NM_001165963.4(SCN1A):c.4570C>A (p.Pro1524Thr) |
single nucleotide variant |
Early infantile epileptic encephalopathy with suppression bursts [RCV001345103]|Inborn genetic diseases [RCV002514047]|not provided [RCV001711484] |
Chr2:165996024 [GRCh38]
Chr2:166852534 [GRCh37]
Chr2:2q24.3 |
likely benign|conflicting interpretations of pathogenicity|uncertain significance |
| NM_001165963.4(SCN1A):c.4724G>A (p.Arg1575His) |
single nucleotide variant |
Early infantile epileptic encephalopathy with suppression bursts [RCV001393461]|not provided [RCV000731424]|not specified [RCV000188972] |
Chr2:165994274 [GRCh38]
Chr2:166850784 [GRCh37]
Chr2:2q24.3 |
benign|likely benign|conflicting interpretations of pathogenicity|uncertain significance |
| NM_001165963.4(SCN1A):c.4744G>C (p.Val1582Leu) |
single nucleotide variant |
not provided [RCV000188973] |
Chr2:165994254 [GRCh38]
Chr2:166850764 [GRCh37]
Chr2:2q24.3 |
uncertain significance |
| NM_001165963.4(SCN1A):c.4793A>T (p.Tyr1598Phe) |
single nucleotide variant |
Early infantile epileptic encephalopathy with suppression bursts [RCV000812724]|Inborn genetic diseases [RCV002317152]|not provided [RCV000188979] |
Chr2:165994205 [GRCh38]
Chr2:166850715 [GRCh37]
Chr2:2q24.3 |
likely pathogenic|likely benign|conflicting interpretations of pathogenicity|uncertain significance |
| NM_001165963.4(SCN1A):c.4855A>G (p.Met1619Val) |
single nucleotide variant |
Early infantile epileptic encephalopathy with suppression bursts [RCV001521140]|SCN1A-related condition [RCV003955128]|Severe myoclonic epilepsy in infancy [RCV000986873]|not provided [RCV000463438]|not specified [RCV000188980] |
Chr2:165992420 [GRCh38]
Chr2:166848930 [GRCh37]
Chr2:2q24.3 |
benign|likely benign|conflicting interpretations of pathogenicity|uncertain significance |
| NM_001165963.4(SCN1A):c.4943G>T (p.Arg1648Leu) |
single nucleotide variant |
not provided [RCV000188988] |
Chr2:165992332 [GRCh38]
Chr2:166848842 [GRCh37]
Chr2:2q24.3 |
pathogenic |
| NM_001165963.4(SCN1A):c.5104G>T (p.Asp1702Tyr) |
single nucleotide variant |
not provided [RCV000188991] |
Chr2:165992171 [GRCh38]
Chr2:166848681 [GRCh37]
Chr2:2q24.3 |
likely pathogenic |
| NM_001165963.4(SCN1A):c.5162C>A (p.Thr1721Lys) |
single nucleotide variant |
not provided [RCV000188993] |
Chr2:165992113 [GRCh38]
Chr2:166848623 [GRCh37]
Chr2:2q24.3 |
pathogenic |
| NM_001165963.4(SCN1A):c.5501C>T (p.Ala1834Val) |
single nucleotide variant |
Generalized epilepsy with febrile seizures plus, type 2 [RCV000714534]|Severe myoclonic epilepsy in infancy [RCV000714535]|Severe myoclonic epilepsy in infancy [RCV003128153]|not provided [RCV000189005] |
Chr2:165991774 [GRCh38]
Chr2:166848284 [GRCh37]
Chr2:2q24.3 |
likely pathogenic|uncertain significance |
| NM_001165963.4(SCN1A):c.5510C>T (p.Pro1837Leu) |
single nucleotide variant |
Early infantile epileptic encephalopathy with suppression bursts [RCV001317294]|Generalized epilepsy with febrile seizures plus, type 2 [RCV001808472]|not provided [RCV000189006]|not specified [RCV003401030] |
Chr2:165991765 [GRCh38]
Chr2:166848275 [GRCh37]
Chr2:2q24.3 |
likely pathogenic|uncertain significance |
| NM_001165963.4(SCN1A):c.5568G>A (p.Met1856Ile) |
single nucleotide variant |
Early infantile epileptic encephalopathy with suppression bursts [RCV001079061]|Inborn genetic diseases [RCV002314754]|not provided [RCV000726913]|not specified [RCV002469053] |
Chr2:165991707 [GRCh38]
Chr2:166848217 [GRCh37]
Chr2:2q24.3 |
likely benign|conflicting interpretations of pathogenicity|uncertain significance |
| NM_001165963.4(SCN1A):c.5639G>A (p.Gly1880Glu) |
single nucleotide variant |
Early infantile epileptic encephalopathy with suppression bursts [RCV000692247]|Generalized epilepsy with febrile seizures plus, type 2 [RCV001136463]|Inborn genetic diseases [RCV002345677]|Migraine, familial hemiplegic, 3 [RCV001136462]|See cases [RCV003128398]|not provided [RCV000488340] |
Chr2:165991636 [GRCh38]
Chr2:166848146 [GRCh37]
Chr2:2q24.3 |
likely benign|conflicting interpretations of pathogenicity|uncertain significance |
| NM_001165963.4(SCN1A):c.5681T>C (p.Met1894Thr) |
single nucleotide variant |
Early infantile epileptic encephalopathy with suppression bursts [RCV001071764]|Severe myoclonic epilepsy in infancy [RCV000986869]|not provided [RCV000189015] |
Chr2:165991594 [GRCh38]
Chr2:166848104 [GRCh37]
Chr2:2q24.3 |
likely pathogenic|likely benign|uncertain significance |
| NM_001165963.4(SCN1A):c.5771G>A (p.Arg1924His) |
single nucleotide variant |
Early infantile epileptic encephalopathy with suppression bursts [RCV003588595]|not provided [RCV000189021] |
Chr2:165991504 [GRCh38]
Chr2:166848014 [GRCh37]
Chr2:2q24.3 |
uncertain significance |
| NM_001165963.4(SCN1A):c.5822C>T (p.Thr1941Met) |
single nucleotide variant |
Early infantile epileptic encephalopathy with suppression bursts [RCV001852497]|not provided [RCV000189023] |
Chr2:165991453 [GRCh38]
Chr2:166847963 [GRCh37]
Chr2:2q24.3 |
uncertain significance |
| NM_001165963.4(SCN1A):c.5882T>C (p.Ile1961Thr) |
single nucleotide variant |
Early infantile epileptic encephalopathy with suppression bursts [RCV001359104]|Generalized epilepsy with febrile seizures plus, type 2 [RCV000678302] |
Chr2:165991393 [GRCh38]
Chr2:166847903 [GRCh37]
Chr2:2q24.3 |
uncertain significance |
| NM_001165963.4(SCN1A):c.5912A>G (p.Glu1971Gly) |
single nucleotide variant |
Early infantile epileptic encephalopathy with suppression bursts [RCV002514050]|Inborn genetic diseases [RCV002514051]|Severe myoclonic epilepsy in infancy [RCV001334844]|not provided [RCV000189026] |
Chr2:165991363 [GRCh38]
Chr2:166847873 [GRCh37]
Chr2:2q24.3 |
likely benign|uncertain significance |
| NM_001165963.4(SCN1A):c.5942C>A (p.Ala1981Asp) |
single nucleotide variant |
Early infantile epileptic encephalopathy with suppression bursts [RCV003090069] |
Chr2:165991333 [GRCh38]
Chr2:166847843 [GRCh37]
Chr2:2q24.3 |
uncertain significance |
| NM_001165963.4(SCN1A):c.5977A>G (p.Ile1993Val) |
single nucleotide variant |
Early infantile epileptic encephalopathy with suppression bursts [RCV001206735]|not provided [RCV003137765]|not specified [RCV000189029] |
Chr2:165991298 [GRCh38]
Chr2:166847808 [GRCh37]
Chr2:2q24.3 |
likely benign|uncertain significance |
| NM_001165963.4(SCN1A):c.677C>G (p.Thr226Arg) |
single nucleotide variant |
not provided [RCV000189074] |
Chr2:166052869 [GRCh38]
Chr2:166909379 [GRCh37]
Chr2:2q24.3 |
pathogenic |
| NM_001165963.4(SCN1A):c.985G>T (p.Gly329Cys) |
single nucleotide variant |
Early infantile epileptic encephalopathy with suppression bursts [RCV001857651]|Intellectual disability [RCV001255357]|Severe myoclonic epilepsy in infancy [RCV001253376]|not provided [RCV000189077] |
Chr2:166048929 [GRCh38]
Chr2:166905439 [GRCh37]
Chr2:2q24.3 |
pathogenic|likely pathogenic |
| NM_001165963.4(SCN1A):c.1000C>G (p.Leu334Val) |
single nucleotide variant |
Early infantile epileptic encephalopathy with suppression bursts [RCV000459597]|Epilepsy [RCV000397171]|Generalized epilepsy with febrile seizures plus, type 2 [RCV001129822]|Inborn genetic diseases [RCV002314755]|Migraine, familial hemiplegic, 3 [RCV000282791]|not provided [RCV001721215]|not specified [RCV001731424] |
Chr2:166048914 [GRCh38]
Chr2:166905424 [GRCh37]
Chr2:2q24.3 |
benign|likely benign|uncertain significance |
| NM_001165963.4(SCN1A):c.2078G>T (p.Arg693Met) |
single nucleotide variant |
Early infantile epileptic encephalopathy with suppression bursts [RCV001309830]|not provided [RCV000189080] |
Chr2:166042390 [GRCh38]
Chr2:166898900 [GRCh37]
Chr2:2q24.3 |
likely benign|uncertain significance |
| NM_001165963.4(SCN1A):c.2177-1G>T |
single nucleotide variant |
not provided [RCV000189081] |
Chr2:166041470 [GRCh38]
Chr2:166897980 [GRCh37]
Chr2:2q24.3 |
pathogenic |
| NM_001165963.4(SCN1A):c.3044C>T (p.Ala1015Val) |
single nucleotide variant |
Early infantile epileptic encephalopathy with suppression bursts [RCV001205593]|Generalized epilepsy with febrile seizures plus, type 2 [RCV001133243]|Migraine, familial hemiplegic, 3 [RCV001132322]|not provided [RCV000189086] |
Chr2:166036433 [GRCh38]
Chr2:166892943 [GRCh37]
Chr2:2q24.3 |
uncertain significance |
| NM_001165963.4(SCN1A):c.203T>G (p.Ile68Ser) |
single nucleotide variant |
Early infantile epileptic encephalopathy with suppression bursts [RCV001852498]|not provided [RCV000189089] |
Chr2:166073419 [GRCh38]
Chr2:166929929 [GRCh37]
Chr2:2q24.3 |
likely pathogenic|uncertain significance |
| NM_001165963.4(SCN1A):c.4266T>A (p.Tyr1422Ter) |
single nucleotide variant |
Severe myoclonic epilepsy in infancy [RCV000201009] |
Chr2:166002490 [GRCh38]
Chr2:166859000 [GRCh37]
Chr2:2q24.3 |
pathogenic |
| NM_001165963.4(SCN1A):c.1028+1G>T |
single nucleotide variant |
Early infantile epileptic encephalopathy with suppression bursts [RCV001242095]|Severe myoclonic epilepsy in infancy [RCV000201025] |
Chr2:166048885 [GRCh38]
Chr2:166905395 [GRCh37]
Chr2:2q24.3 |
pathogenic |
| NM_001165963.4(SCN1A):c.3852del (p.Trp1284fs) |
deletion |
Severe myoclonic epilepsy in infancy [RCV000201064] |
Chr2:166012136 [GRCh38]
Chr2:166868646 [GRCh37]
Chr2:2q24.3 |
pathogenic |
| NM_001165963.4(SCN1A):c.992dup (p.Leu331fs) |
duplication |
Severe myoclonic epilepsy in infancy [RCV000201079] |
Chr2:166048921..166048922 [GRCh38]
Chr2:166905431..166905432 [GRCh37]
Chr2:2q24.3 |
pathogenic|likely pathogenic |
| NM_001165963.4(SCN1A):c.1511_1515del (p.Arg504fs) |
microsatellite |
Early infantile epileptic encephalopathy with suppression bursts [RCV000542771]|not provided [RCV001008510] |
Chr2:166045190..166045194 [GRCh38]
Chr2:166901700..166901704 [GRCh37]
Chr2:2q24.3 |
pathogenic |
| NM_001165963.4(SCN1A):c.264+5G>A |
single nucleotide variant |
Autosomal dominant epilepsy [RCV002469061]|Early infantile epileptic encephalopathy with suppression bursts [RCV000692637]|Migraine, familial hemiplegic, 3 [RCV001197105]|Severe myoclonic epilepsy in infancy [RCV000201121] |
Chr2:166073353 [GRCh38]
Chr2:166929863 [GRCh37]
Chr2:2q24.3 |
pathogenic|likely pathogenic |
| NM_001165963.4(SCN1A):c.3657G>A (p.Trp1219Ter) |
single nucleotide variant |
Severe myoclonic epilepsy in infancy [RCV000201129] |
Chr2:166013792 [GRCh38]
Chr2:166870302 [GRCh37]
Chr2:2q24.3 |
pathogenic |
| NM_001165963.4(SCN1A):c.4477-2A>G |
single nucleotide variant |
Early infantile epileptic encephalopathy with suppression bursts [RCV001205577]|Severe myoclonic epilepsy in infancy [RCV000201155] |
Chr2:165996119 [GRCh38]
Chr2:166852629 [GRCh37]
Chr2:2q24.3 |
pathogenic|likely pathogenic|uncertain significance |
| NM_001165963.4(SCN1A):c.249C>A (p.Tyr83Ter) |
single nucleotide variant |
Early infantile epileptic encephalopathy with suppression bursts [RCV003588598]|Severe myoclonic epilepsy in infancy [RCV000201161] |
Chr2:166073373 [GRCh38]
Chr2:166929883 [GRCh37]
Chr2:2q24.3 |
pathogenic |
| NM_001165963.4(SCN1A):c.5436G>A (p.Trp1812Ter) |
single nucleotide variant |
Early infantile epileptic encephalopathy with suppression bursts [RCV003588599]|Severe myoclonic epilepsy in infancy [RCV000201173] |
Chr2:165991839 [GRCh38]
Chr2:166848349 [GRCh37]
Chr2:2q24.3 |
pathogenic |
| NM_001165963.4(SCN1A):c.3306C>A (p.Tyr1102Ter) |
single nucleotide variant |
Severe myoclonic epilepsy in infancy [RCV000201200] |
Chr2:166036171 [GRCh38]
Chr2:166892681 [GRCh37]
Chr2:2q24.3 |
pathogenic |
| NM_001165963.4(SCN1A):c.5217C>T (p.Pro1739=) |
single nucleotide variant |
Early infantile epileptic encephalopathy with suppression bursts [RCV001438907]|Inborn genetic diseases [RCV002350223]|Migraine, familial hemiplegic, 3 [RCV000768075]|Migraine, familial hemiplegic, 3 [RCV003224323]|not provided [RCV000828050] |
Chr2:165992058 [GRCh38]
Chr2:166848568 [GRCh37]
Chr2:2q24.3 |
likely benign|uncertain significance |
| NM_001165963.4(SCN1A):c.2044-5del |
deletion |
Early infantile epileptic encephalopathy with suppression bursts [RCV000636483]|Epilepsy [RCV000288507]|Familial hemiplegic migraine [RCV000394088]|not provided [RCV001727689]|not specified [RCV000614277] |
Chr2:166042429 [GRCh38]
Chr2:166898939 [GRCh37]
Chr2:2q24.3 |
benign|likely benign |
| NM_001165963.4(SCN1A):c.4551A>G (p.Lys1517=) |
single nucleotide variant |
Early infantile epileptic encephalopathy with suppression bursts [RCV000466572]|Epilepsy [RCV000381048]|Generalized epilepsy with febrile seizures plus, type 2 [RCV001132199]|Inborn genetic diseases [RCV002311418]|Migraine, familial hemiplegic, 3 [RCV000324110]|not provided [RCV001726126]|not specified [RCV000434964] |
Chr2:165996043 [GRCh38]
Chr2:166852553 [GRCh37]
Chr2:2q24.3 |
benign|likely benign |
| NM_001165963.4(SCN1A):c.354G>T (p.Arg118Ser) |
single nucleotide variant |
Severe myoclonic epilepsy in infancy [RCV000986918]|not provided [RCV000364532] |
Chr2:166058599 [GRCh38]
Chr2:166915109 [GRCh37]
Chr2:2q24.3 |
pathogenic|likely pathogenic |
| NM_001165963.4(SCN1A):c.1025C>A (p.Ala342Glu) |
single nucleotide variant |
Severe myoclonic epilepsy in infancy [RCV000258942] |
Chr2:166048889 [GRCh38]
Chr2:166905399 [GRCh37]
Chr2:2q24.3 |
pathogenic|likely pathogenic |
| NM_001165963.4(SCN1A):c.1852C>T (p.Arg618Cys) |
single nucleotide variant |
Early infantile epileptic encephalopathy with suppression bursts [RCV000204396]|Inborn genetic diseases [RCV002517377]|not provided [RCV001753614] |
Chr2:166043860 [GRCh38]
Chr2:166900370 [GRCh37]
Chr2:2q24.3 |
pathogenic|uncertain significance |
| NM_001165963.4(SCN1A):c.4158_4163delinsATAATCATACTGATTGCCTAAAACTAAT (p.Asp1386_Glu1388delinsGluTer) |
indel |
not provided [RCV000255327] |
Chr2:166002593..166002598 [GRCh38]
Chr2:166859103..166859108 [GRCh37]
Chr2:2q24.3 |
pathogenic |
| NM_001165963.4(SCN1A):c.707T>C (p.Ile236Thr) |
single nucleotide variant |
Developmental and epileptic encephalopathy 6B [RCV001775106]|not provided [RCV000255361] |
Chr2:166051976 [GRCh38]
Chr2:166908486 [GRCh37]
Chr2:2q24.3 |
pathogenic|likely pathogenic|conflicting interpretations of pathogenicity |
| NM_001165963.4(SCN1A):c.3425_3426del (p.Lys1142fs) |
deletion |
Seizure [RCV000991076]|not provided [RCV000255542] |
Chr2:166036051..166036052 [GRCh38]
Chr2:166892561..166892562 [GRCh37]
Chr2:2q24.3 |
pathogenic |
| NM_001165963.4(SCN1A):c.4581+2T>C |
single nucleotide variant |
not provided [RCV000255559] |
Chr2:165996011 [GRCh38]
Chr2:166852521 [GRCh37]
Chr2:2q24.3 |
likely pathogenic |
| NM_001165963.4(SCN1A):c.3496C>T (p.Gln1166Ter) |
single nucleotide variant |
Early infantile epileptic encephalopathy with suppression bursts [RCV001851457]|Severe myoclonic epilepsy in infancy [RCV000986891]|not provided [RCV000517686] |
Chr2:166015661 [GRCh38]
Chr2:166872171 [GRCh37]
Chr2:2q24.3 |
pathogenic |
| NM_001165963.4(SCN1A):c.4567A>G (p.Ile1523Val) |
single nucleotide variant |
Early infantile epileptic encephalopathy with suppression bursts [RCV000548405] |
Chr2:165996027 [GRCh38]
Chr2:166852537 [GRCh37]
Chr2:2q24.3 |
uncertain significance |
| NM_001165963.4(SCN1A):c.3704del (p.Leu1235fs) |
deletion |
Severe myoclonic epilepsy in infancy [RCV000209833] |
Chr2:166013745 [GRCh38]
Chr2:166870255 [GRCh37]
Chr2:2q24.3 |
pathogenic |
| NM_001165963.4(SCN1A):c.4002+2451G>C |
single nucleotide variant |
Early infantile epileptic encephalopathy with suppression bursts [RCV003588600]|Severe myoclonic epilepsy in infancy [RCV000209951] |
Chr2:166007268 [GRCh38]
Chr2:166863778 [GRCh37]
Chr2:2q24.3 |
pathogenic|uncertain significance |
| NM_001165963.4(SCN1A):c.3712G>C (p.Glu1238Gln) |
single nucleotide variant |
Early infantile epileptic encephalopathy with suppression bursts [RCV000228910] |
Chr2:166012276 [GRCh38]
Chr2:166868786 [GRCh37]
Chr2:2q24.3 |
uncertain significance |
| NM_001165963.4(SCN1A):c.5798G>T (p.Arg1933Leu) |
single nucleotide variant |
Early infantile epileptic encephalopathy with suppression bursts [RCV000232436]|not provided [RCV003137834] |
Chr2:165991477 [GRCh38]
Chr2:166847987 [GRCh37]
Chr2:2q24.3 |
uncertain significance |
| NM_001165963.4(SCN1A):c.2861A>T (p.Glu954Val) |
single nucleotide variant |
Early infantile epileptic encephalopathy with suppression bursts [RCV000228804] |
Chr2:166037861 [GRCh38]
Chr2:166894371 [GRCh37]
Chr2:2q24.3 |
likely pathogenic|uncertain significance |
| NM_001165963.4(SCN1A):c.2176+11A>C |
single nucleotide variant |
Early infantile epileptic encephalopathy with suppression bursts [RCV002057583]|Epilepsy [RCV000347094]|Generalized epilepsy with febrile seizures plus, type 2 [RCV001129705]|Migraine, familial hemiplegic, 3 [RCV000292259]|not specified [RCV000443334] |
Chr2:166042281 [GRCh38]
Chr2:166898791 [GRCh37]
Chr2:2q24.3 |
likely benign|uncertain significance |
| NM_001165963.4(SCN1A):c.4282G>T (p.Val1428Phe) |
single nucleotide variant |
Early infantile epileptic encephalopathy with suppression bursts [RCV000231750] |
Chr2:166002474 [GRCh38]
Chr2:166858984 [GRCh37]
Chr2:2q24.3 |
pathogenic |
| NM_001165963.4(SCN1A):c.4582-3C>G |
single nucleotide variant |
Early infantile epileptic encephalopathy with suppression bursts [RCV000226728] |
Chr2:165994419 [GRCh38]
Chr2:166850929 [GRCh37]
Chr2:2q24.3 |
uncertain significance |
| NM_001165963.4(SCN1A):c.3012T>C (p.Asp1004=) |
single nucleotide variant |
Early infantile epileptic encephalopathy with suppression bursts [RCV002057582]|Epilepsy [RCV000360511]|Generalized epilepsy with febrile seizures plus, type 2 [RCV001133244]|Inborn genetic diseases [RCV002436186]|Migraine, familial hemiplegic, 3 [RCV000303143] |
Chr2:166036465 [GRCh38]
Chr2:166892975 [GRCh37]
Chr2:2q24.3 |
likely benign|uncertain significance |
| GRCh37/hg19 2q24.3(chr2:166847469-166930620)x1 |
copy number loss |
See cases [RCV000239785] |
Chr2:166847469..166930620 [GRCh37]
Chr2:2q24.3 |
pathogenic |
| NM_001165963.4(SCN1A):c.4763G>A (p.Cys1588Tyr) |
single nucleotide variant |
Early infantile epileptic encephalopathy with suppression bursts [RCV000549298]|not provided [RCV001796101] |
Chr2:165994235 [GRCh38]
Chr2:166850745 [GRCh37]
Chr2:2q24.3 |
pathogenic|likely pathogenic|uncertain significance |
| NM_001165963.4(SCN1A):c.2044-14A>T |
single nucleotide variant |
Epilepsy [RCV000343443]|Generalized epilepsy with febrile seizures plus, type 2 [RCV001129706]|Migraine, familial hemiplegic, 3 [RCV000399542] |
Chr2:166042438 [GRCh38]
Chr2:166898948 [GRCh37]
Chr2:2q24.3 |
uncertain significance |
| GRCh37/hg19 2q24.1-31.3(chr2:156489430-182921298)x3 |
copy number gain |
See cases [RCV000239848] |
Chr2:156489430..182921298 [GRCh37]
Chr2:2q24.1-31.3 |
pathogenic |
| NM_001165963.4(SCN1A):c.4807G>T (p.Gly1603Ter) |
single nucleotide variant |
Early infantile epileptic encephalopathy with suppression bursts [RCV000525130] |
Chr2:165994191 [GRCh38]
Chr2:166850701 [GRCh37]
Chr2:2q24.3 |
pathogenic|likely pathogenic |
| NM_001165963.4(SCN1A):c.2933T>C (p.Ile978Thr) |
single nucleotide variant |
Early infantile epileptic encephalopathy with suppression bursts [RCV000547651] |
Chr2:166037789 [GRCh38]
Chr2:166894299 [GRCh37]
Chr2:2q24.3 |
uncertain significance |
| NM_001165963.4(SCN1A):c.4941A>G (p.Leu1647=) |
single nucleotide variant |
Early infantile epileptic encephalopathy with suppression bursts [RCV002521313]|Epilepsy [RCV000354865]|Generalized epilepsy with febrile seizures plus, type 2 [RCV001129474]|Migraine, familial hemiplegic, 3 [RCV000297484]|not provided [RCV001549750] |
Chr2:165992334 [GRCh38]
Chr2:166848844 [GRCh37]
Chr2:2q24.3 |
likely benign|uncertain significance |
| NM_001165963.4(SCN1A):c.3710T>C (p.Phe1237Ser) |
single nucleotide variant |
Early infantile epileptic encephalopathy with suppression bursts [RCV000706305]|not provided [RCV000520061] |
Chr2:166012278 [GRCh38]
Chr2:166868788 [GRCh37]
Chr2:2q24.3 |
likely pathogenic|uncertain significance |
| NM_001165963.4(SCN1A):c.3591A>G (p.Glu1197=) |
single nucleotide variant |
Early infantile epileptic encephalopathy with suppression bursts [RCV001413918]|not provided [RCV000727104]|not specified [RCV000595888] |
Chr2:166013858 [GRCh38]
Chr2:166870368 [GRCh37]
Chr2:2q24.3 |
likely benign|conflicting interpretations of pathogenicity|uncertain significance |
| GRCh37/hg19 2q24.3(chr2:166094617-166931348)x3 |
copy number gain |
See cases [RCV000240508] |
Chr2:166094617..166931348 [GRCh37]
Chr2:2q24.3 |
pathogenic |
| NM_001165963.4(SCN1A):c.3355G>A (p.Val1119Ile) |
single nucleotide variant |
Early infantile epileptic encephalopathy with suppression bursts [RCV001857941]|not provided [RCV000521833] |
Chr2:166036122 [GRCh38]
Chr2:166892632 [GRCh37]
Chr2:2q24.3 |
uncertain significance |
| NM_001165963.4(SCN1A):c.800A>C (p.Gln267Pro) |
single nucleotide variant |
not provided [RCV000519711] |
Chr2:166051883 [GRCh38]
Chr2:166908393 [GRCh37]
Chr2:2q24.3 |
likely pathogenic |
| NM_001165963.4(SCN1A):c.2817C>A (p.His939Gln) |
single nucleotide variant |
not provided [RCV000519717] |
Chr2:166037905 [GRCh38]
Chr2:166894415 [GRCh37]
Chr2:2q24.3 |
pathogenic |
| NM_001165963.4(SCN1A):c.5306A>G (p.Tyr1769Cys) |
single nucleotide variant |
Inborn genetic diseases [RCV000624688]|not provided [RCV000255765] |
Chr2:165991969 [GRCh38]
Chr2:166848479 [GRCh37]
Chr2:2q24.3 |
likely pathogenic|uncertain significance |
| GRCh37/hg19 2q24.3(chr2:166847469-166931348)x1 |
copy number loss |
See cases [RCV000240247] |
Chr2:166847469..166931348 [GRCh37]
Chr2:2q24.3 |
pathogenic |
| NM_001165963.4(SCN1A):c.*1952T>C |
single nucleotide variant |
Epilepsy [RCV000269587]|Generalized epilepsy with febrile seizures plus, type 2 [RCV001131843]|Migraine, familial hemiplegic, 3 [RCV000380567]|not provided [RCV001786369] |
Chr2:165989293 [GRCh38]
Chr2:166845803 [GRCh37]
Chr2:2q24.3 |
benign|likely benign |
| NM_001165963.4(SCN1A):c.*1224G>A |
single nucleotide variant |
Epilepsy [RCV000269916]|Generalized epilepsy with febrile seizures plus, type 2 [RCV001129269]|Migraine, familial hemiplegic, 3 [RCV000327283] |
Chr2:165990021 [GRCh38]
Chr2:166846531 [GRCh37]
Chr2:2q24.3 |
benign|likely benign |
| NM_001165963.4(SCN1A):c.3857G>A (p.Trp1286Ter) |
single nucleotide variant |
not provided [RCV000256163] |
Chr2:166012131 [GRCh38]
Chr2:166868641 [GRCh37]
Chr2:2q24.3 |
pathogenic |
| NM_001165963.4(SCN1A):c.602+6_602+7dup |
duplication |
Early infantile epileptic encephalopathy with suppression bursts [RCV000467090]|Migraine, familial hemiplegic, 3 [RCV002494728]|not provided [RCV003437037]|not specified [RCV000252266] |
Chr2:166054630..166054631 [GRCh38]
Chr2:166911140..166911141 [GRCh37]
Chr2:2q24.3 |
benign|likely benign |
| NM_001165963.4(SCN1A):c.5174G>A (p.Gly1725Asp) |
single nucleotide variant |
Early infantile epileptic encephalopathy with suppression bursts [RCV000530416] |
Chr2:165992101 [GRCh38]
Chr2:166848611 [GRCh37]
Chr2:2q24.3 |
likely pathogenic |
| NM_001165963.4(SCN1A):c.4284+14A>G |
single nucleotide variant |
Early infantile epileptic encephalopathy with suppression bursts [RCV002057989]|not specified [RCV000250061] |
Chr2:166002458 [GRCh38]
Chr2:166858968 [GRCh37]
Chr2:2q24.3 |
likely benign |
| NM_001165963.4(SCN1A):c.2415+8T>C |
single nucleotide variant |
Early infantile epileptic encephalopathy with suppression bursts [RCV002063828]|not provided [RCV000487563] |
Chr2:166041223 [GRCh38]
Chr2:166897733 [GRCh37]
Chr2:2q24.3 |
likely benign|uncertain significance |
| GRCh37/hg19 2q24.3(chr2:166894421-166903728)x1 |
copy number loss |
See cases [RCV000240289] |
Chr2:166894421..166903728 [GRCh37]
Chr2:2q24.3 |
pathogenic |
| NM_001165963.4(SCN1A):c.*460A>C |
single nucleotide variant |
Epilepsy [RCV000276619]|Generalized epilepsy with febrile seizures plus, type 2 [RCV001129371]|Migraine, familial hemiplegic, 3 [RCV000334058] |
Chr2:165990785 [GRCh38]
Chr2:166847295 [GRCh37]
Chr2:2q24.3 |
uncertain significance |
| NM_001165963.4(SCN1A):c.*1961C>T |
single nucleotide variant |
Epilepsy [RCV000266283]|Generalized epilepsy with febrile seizures plus, type 2 [RCV001129163]|Migraine, familial hemiplegic, 3 [RCV000323573]|not provided [RCV001672563] |
Chr2:165989284 [GRCh38]
Chr2:166845794 [GRCh37]
Chr2:2q24.3 |
benign|likely benign |
| NM_001165963.4(SCN1A):c.1931_1939delinsA (p.Thr644fs) |
indel |
Early infantile epileptic encephalopathy with suppression bursts [RCV000550335] |
Chr2:166043773..166043781 [GRCh38]
Chr2:166900283..166900291 [GRCh37]
Chr2:2q24.3 |
pathogenic |
| NM_001165963.4(SCN1A):c.*1989C>T |
single nucleotide variant |
Epilepsy [RCV000299209]|Generalized epilepsy with febrile seizures plus, type 2 [RCV001129162]|Migraine, familial hemiplegic, 3 [RCV000358635] |
Chr2:165989256 [GRCh38]
Chr2:166845766 [GRCh37]
Chr2:2q24.3 |
uncertain significance |
| NM_001165963.4(SCN1A):c.*1795G>A |
single nucleotide variant |
Epilepsy [RCV000399827]|Generalized epilepsy with febrile seizures plus, type 2 [RCV001131846]|Migraine, familial hemiplegic, 3 [RCV000352320] |
Chr2:165989450 [GRCh38]
Chr2:166845960 [GRCh37]
Chr2:2q24.3 |
likely benign|uncertain significance |
| NM_001165963.4(SCN1A):c.*1693A>G |
single nucleotide variant |
Epilepsy [RCV000400636]|Generalized epilepsy with febrile seizures plus, type 2 [RCV001132840]|Migraine, familial hemiplegic, 3 [RCV000301872]|not provided [RCV001618585] |
Chr2:165989552 [GRCh38]
Chr2:166846062 [GRCh37]
Chr2:2q24.3 |
benign|likely benign |
| NM_001165963.4(SCN1A):c.*1739C>T |
single nucleotide variant |
Epilepsy [RCV000337344]|Generalized epilepsy with febrile seizures plus, type 2 [RCV001132839]|Migraine, familial hemiplegic, 3 [RCV000298852]|not provided [RCV001618584] |
Chr2:165989506 [GRCh38]
Chr2:166846016 [GRCh37]
Chr2:2q24.3 |
benign |
| NM_001165963.4(SCN1A):c.*1950G>A |
single nucleotide variant |
Epilepsy [RCV000383993]|Generalized epilepsy with febrile seizures plus, type 2 [RCV001131844]|Migraine, familial hemiplegic, 3 [RCV000326961] |
Chr2:165989295 [GRCh38]
Chr2:166845805 [GRCh37]
Chr2:2q24.3 |
uncertain significance |
| NM_001165963.4(SCN1A):c.*1864T>A |
single nucleotide variant |
Epilepsy [RCV000387218]|Generalized epilepsy with febrile seizures plus, type 2 [RCV001131845]|Migraine, familial hemiplegic, 3 [RCV000295129]|not provided [RCV002263605] |
Chr2:165989381 [GRCh38]
Chr2:166845891 [GRCh37]
Chr2:2q24.3 |
benign|likely benign|uncertain significance |
| NM_001165963.4(SCN1A):c.*721A>G |
single nucleotide variant |
Epilepsy [RCV000308219]|Generalized epilepsy with febrile seizures plus, type 2 [RCV001136360]|Migraine, familial hemiplegic, 3 [RCV000398925]|not provided [RCV001690095] |
Chr2:165990524 [GRCh38]
Chr2:166847034 [GRCh37]
Chr2:2q24.3 |
benign |
| NM_001165963.4(SCN1A):c.*1653C>T |
single nucleotide variant |
Epilepsy [RCV000391940]|Generalized epilepsy with febrile seizures plus, type 2 [RCV001136239]|Migraine, familial hemiplegic, 3 [RCV000358973]|not provided [RCV001786370] |
Chr2:165989592 [GRCh38]
Chr2:166846102 [GRCh37]
Chr2:2q24.3 |
benign|likely benign |
| NM_001165963.4(SCN1A):c.*1025T>C |
single nucleotide variant |
Epilepsy [RCV000296183]|Generalized epilepsy with febrile seizures plus, type 2 [RCV001131977]|Migraine, familial hemiplegic, 3 [RCV000315961] |
Chr2:165990220 [GRCh38]
Chr2:166846730 [GRCh37]
Chr2:2q24.3 |
benign|likely benign |
| NM_001165963.4(SCN1A):c.*588A>G |
single nucleotide variant |
Epilepsy [RCV000311713]|Generalized epilepsy with febrile seizures plus, type 2 [RCV001136363]|Migraine, familial hemiplegic, 3 [RCV000368849] |
Chr2:165990657 [GRCh38]
Chr2:166847167 [GRCh37]
Chr2:2q24.3 |
benign|likely benign |
| NM_001165963.4(SCN1A):c.*1872del |
deletion |
Epilepsy [RCV000349000]|Familial hemiplegic migraine [RCV000292010]|not provided [RCV003437055] |
Chr2:165989373 [GRCh38]
Chr2:166845883 [GRCh37]
Chr2:2q24.3 |
benign|uncertain significance |
| NM_001165963.4(SCN1A):c.*1031A>T |
single nucleotide variant |
Epilepsy [RCV000331302]|Generalized epilepsy with febrile seizures plus, type 2 [RCV001131976]|Migraine, familial hemiplegic, 3 [RCV000388051] |
Chr2:165990214 [GRCh38]
Chr2:166846724 [GRCh37]
Chr2:2q24.3 |
likely benign |
| NM_001165963.4(SCN1A):c.3880-10G>C |
single nucleotide variant |
Early infantile epileptic encephalopathy with suppression bursts [RCV003588616]|Epilepsy [RCV000327373]|Generalized epilepsy with febrile seizures plus, type 2 [RCV001133133]|Migraine, familial hemiplegic, 3 [RCV000270000] |
Chr2:166009851 [GRCh38]
Chr2:166866361 [GRCh37]
Chr2:2q24.3 |
likely benign|uncertain significance |
| NM_001165963.4(SCN1A):c.*977T>C |
single nucleotide variant |
Epilepsy [RCV000372878]|Generalized epilepsy with febrile seizures plus, type 2 [RCV001132921]|Migraine, familial hemiplegic, 3 [RCV000280784] |
Chr2:165990268 [GRCh38]
Chr2:166846778 [GRCh37]
Chr2:2q24.3 |
uncertain significance |
| NM_001165963.4(SCN1A):c.323dup (p.Tyr109fs) |
duplication |
not provided [RCV000269751] |
Chr2:166058629..166058630 [GRCh38]
Chr2:166915139..166915140 [GRCh37]
Chr2:2q24.3 |
pathogenic |
| NM_001165963.4(SCN1A):c.144C>T (p.Gly48=) |
single nucleotide variant |
Early infantile epileptic encephalopathy with suppression bursts [RCV001398305]|Inborn genetic diseases [RCV002392805]|not provided [RCV000725928] |
Chr2:166073478 [GRCh38]
Chr2:166929988 [GRCh37]
Chr2:2q24.3 |
likely benign|conflicting interpretations of pathogenicity|uncertain significance |
| NM_001165963.4(SCN1A):c.972T>C (p.His324=) |
single nucleotide variant |
not provided [RCV000373417] |
Chr2:166048942 [GRCh38]
Chr2:166905452 [GRCh37]
Chr2:2q24.3 |
uncertain significance |
| NM_001165963.4(SCN1A):c.4610dup (p.Val1538fs) |
duplication |
not provided [RCV000278058] |
Chr2:165994387..165994388 [GRCh38]
Chr2:166850897..166850898 [GRCh37]
Chr2:2q24.3 |
pathogenic |
| NM_001165963.4(SCN1A):c.1028+1del |
deletion |
Severe myoclonic epilepsy in infancy [RCV003147436]|not provided [RCV000281741] |
Chr2:166048885 [GRCh38]
Chr2:166905395 [GRCh37]
Chr2:2q24.3 |
pathogenic|likely pathogenic |
| NM_001165963.4(SCN1A):c.2975dup (p.Ser993fs) |
duplication |
not provided [RCV000279077] |
Chr2:166036501..166036502 [GRCh38]
Chr2:166893011..166893012 [GRCh37]
Chr2:2q24.3 |
pathogenic |
| NM_001165963.4(SCN1A):c.1696C>T (p.Pro566Ser) |
single nucleotide variant |
not provided [RCV000272927] |
Chr2:166044016 [GRCh38]
Chr2:166900526 [GRCh37]
Chr2:2q24.3 |
uncertain significance |
| NM_001165963.4(SCN1A):c.3877del (p.Asp1293fs) |
deletion |
not provided [RCV000288524] |
Chr2:166012111 [GRCh38]
Chr2:166868621 [GRCh37]
Chr2:2q24.3 |
pathogenic |
| NM_001165963.4(SCN1A):c.4812del (p.Gly1603_Trp1604insTer) |
deletion |
not provided [RCV000293001] |
Chr2:165994186 [GRCh38]
Chr2:166850696 [GRCh37]
Chr2:2q24.3 |
pathogenic |
| NM_001165963.4(SCN1A):c.644T>A (p.Leu215Ter) |
single nucleotide variant |
not provided [RCV000294655] |
Chr2:166052902 [GRCh38]
Chr2:166909412 [GRCh37]
Chr2:2q24.3 |
pathogenic |
| NM_001165963.4(SCN1A):c.2659G>A (p.Val887Met) |
single nucleotide variant |
Early infantile epileptic encephalopathy with suppression bursts [RCV002521885]|Inborn genetic diseases [RCV003362741]|not provided [RCV000307557] |
Chr2:166038063 [GRCh38]
Chr2:166894573 [GRCh37]
Chr2:2q24.3 |
likely benign|uncertain significance |
| NM_001165963.4(SCN1A):c.*259T>C |
single nucleotide variant |
Epilepsy [RCV000260487]|Generalized epilepsy with febrile seizures plus, type 2 [RCV001132091]|Migraine, familial hemiplegic, 3 [RCV000353869] |
Chr2:165990986 [GRCh38]
Chr2:166847496 [GRCh37]
Chr2:2q24.3 |
uncertain significance |
| NM_001165963.4(SCN1A):c.2459T>C (p.Ile820Thr) |
single nucleotide variant |
Epilepsy [RCV000271788]|Generalized epilepsy with febrile seizures plus, type 2 [RCV001134708]|Migraine, familial hemiplegic, 3 [RCV000363888]|not provided [RCV003137931] |
Chr2:166039553 [GRCh38]
Chr2:166896063 [GRCh37]
Chr2:2q24.3 |
uncertain significance |
| NM_001165963.4(SCN1A):c.*129T>G |
single nucleotide variant |
Epilepsy [RCV000282761]|Generalized epilepsy with febrile seizures plus, type 2 [RCV001132094]|Migraine, familial hemiplegic, 3 [RCV000322521] |
Chr2:165991116 [GRCh38]
Chr2:166847626 [GRCh37]
Chr2:2q24.3 |
uncertain significance |
| NM_001165963.4(SCN1A):c.2797C>T (p.His933Tyr) |
single nucleotide variant |
Early infantile epileptic encephalopathy with suppression bursts [RCV001318445]|Inborn genetic diseases [RCV002436095]|not provided [RCV000302405] |
Chr2:166037925 [GRCh38]
Chr2:166894435 [GRCh37]
Chr2:2q24.3 |
pathogenic|likely pathogenic|uncertain significance |
| NM_001165963.4(SCN1A):c.1264G>A (p.Val422Met) |
single nucleotide variant |
SCN1A-related condition [RCV003955449]|Severe myoclonic epilepsy in infancy [RCV000314247]|not provided [RCV000725185] |
Chr2:166046883 [GRCh38]
Chr2:166903393 [GRCh37]
Chr2:2q24.3 |
pathogenic|likely pathogenic|conflicting interpretations of pathogenicity|uncertain significance |
| NM_001165963.4(SCN1A):c.705del (p.Ile236fs) |
deletion |
not provided [RCV000322686] |
Chr2:166051978 [GRCh38]
Chr2:166908488 [GRCh37]
Chr2:2q24.3 |
pathogenic |
| NM_001165963.4(SCN1A):c.2415+1G>C |
single nucleotide variant |
not provided [RCV000323591] |
Chr2:166041230 [GRCh38]
Chr2:166897740 [GRCh37]
Chr2:2q24.3 |
pathogenic |
| NM_001165963.4(SCN1A):c.*172dup |
duplication |
Epilepsy [RCV000318005]|Familial hemiplegic migraine [RCV000374900]|not provided [RCV001613077] |
Chr2:165991072..165991073 [GRCh38]
Chr2:166847582..166847583 [GRCh37]
Chr2:2q24.3 |
benign|likely benign |
| NM_001165963.4(SCN1A):c.*1121T>C |
single nucleotide variant |
Epilepsy [RCV000273857]|Generalized epilepsy with febrile seizures plus, type 2 [RCV001131975]|Migraine, familial hemiplegic, 3 [RCV000365580] |
Chr2:165990124 [GRCh38]
Chr2:166846634 [GRCh37]
Chr2:2q24.3 |
uncertain significance |
| NM_001165963.4(SCN1A):c.1377+1G>C |
single nucleotide variant |
not provided [RCV000349418] |
Chr2:166046769 [GRCh38]
Chr2:166903279 [GRCh37]
Chr2:2q24.3 |
pathogenic |
| NM_001165963.4(SCN1A):c.600dup (p.Ala201fs) |
duplication |
not provided [RCV000350770] |
Chr2:166054639..166054640 [GRCh38]
Chr2:166911149..166911150 [GRCh37]
Chr2:2q24.3 |
pathogenic |
| NM_001165963.4(SCN1A):c.2851del (p.Glu951fs) |
deletion |
Early infantile epileptic encephalopathy with suppression bursts [RCV003765583]|not provided [RCV000354930] |
Chr2:166037871 [GRCh38]
Chr2:166894381 [GRCh37]
Chr2:2q24.3 |
pathogenic |
| NM_001165963.4(SCN1A):c.4129A>G (p.Ile1377Val) |
single nucleotide variant |
Early infantile epileptic encephalopathy with suppression bursts [RCV000794768]|Inborn genetic diseases [RCV002317815]|not provided [RCV000725944] |
Chr2:166002627 [GRCh38]
Chr2:166859137 [GRCh37]
Chr2:2q24.3 |
likely benign|conflicting interpretations of pathogenicity|uncertain significance |
| NM_001165963.4(SCN1A):c.2498dup (p.Asn833fs) |
duplication |
not provided [RCV000359370] |
Chr2:166039513..166039514 [GRCh38]
Chr2:166896023..166896024 [GRCh37]
Chr2:2q24.3 |
pathogenic |
| NM_001165963.4(SCN1A):c.384dup (p.Leu129fs) |
duplication |
not provided [RCV000361255] |
Chr2:166056499..166056500 [GRCh38]
Chr2:166913009..166913010 [GRCh37]
Chr2:2q24.3 |
pathogenic |
| NM_001165963.4(SCN1A):c.1119del (p.Leu373fs) |
deletion |
not provided [RCV000363533] |
Chr2:166047678 [GRCh38]
Chr2:166904188 [GRCh37]
Chr2:2q24.3 |
pathogenic |
| NM_001165963.4(SCN1A):c.1853_1854del (p.Arg618fs) |
deletion |
not provided [RCV000364482] |
Chr2:166043858..166043859 [GRCh38]
Chr2:166900368..166900369 [GRCh37]
Chr2:2q24.3 |
pathogenic |
| NM_001165963.4(SCN1A):c.2177-11dup |
duplication |
Epilepsy [RCV000386585]|Familial hemiplegic migraine [RCV000350738]|Migraine, familial hemiplegic, 3 [RCV002480179]|not provided [RCV001529924]|not specified [RCV001727688] |
Chr2:166041479..166041480 [GRCh38]
Chr2:166897989..166897990 [GRCh37]
Chr2:2q24.3 |
benign|likely benign |
| NM_001165963.4(SCN1A):c.2057A>C (p.Glu686Ala) |
single nucleotide variant |
Early infantile epileptic encephalopathy with suppression bursts [RCV001043886]|not provided [RCV000430819] |
Chr2:166042411 [GRCh38]
Chr2:166898921 [GRCh37]
Chr2:2q24.3 |
conflicting interpretations of pathogenicity|uncertain significance |
| NM_001165963.4(SCN1A):c.1259C>A (p.Ala420Asp) |
single nucleotide variant |
Developmental and epileptic encephalopathy 6B [RCV001718573]|not provided [RCV000357729] |
Chr2:166046888 [GRCh38]
Chr2:166903398 [GRCh37]
Chr2:2q24.3 |
likely pathogenic|uncertain significance |
| NM_001165963.4(SCN1A):c.2177-8dup |
duplication |
Epilepsy [RCV000389705]|Familial hemiplegic migraine [RCV000295837]|not provided [RCV000958879] |
Chr2:166041476..166041477 [GRCh38]
Chr2:166897986..166897987 [GRCh37]
Chr2:2q24.3 |
likely benign |
| NM_001165963.4(SCN1A):c.765_766del (p.Phe256fs) |
microsatellite |
Developmental and epileptic encephalopathy 6B [RCV003343737]|Early infantile epileptic encephalopathy with suppression bursts [RCV001389473]|not provided [RCV000385485] |
Chr2:166051917..166051918 [GRCh38]
Chr2:166908427..166908428 [GRCh37]
Chr2:2q24.3 |
pathogenic |
| NM_001165963.4(SCN1A):c.1678C>T (p.Arg560Cys) |
single nucleotide variant |
Early infantile epileptic encephalopathy with suppression bursts [RCV001053786]|Inborn genetic diseases [RCV002518896]|not provided [RCV000293843] |
Chr2:166044034 [GRCh38]
Chr2:166900544 [GRCh37]
Chr2:2q24.3 |
uncertain significance |
| NM_001165963.4(SCN1A):c.935T>G (p.Phe312Cys) |
single nucleotide variant |
not provided [RCV000327566] |
Chr2:166051748 [GRCh38]
Chr2:166908258 [GRCh37]
Chr2:2q24.3 |
uncertain significance |
| NM_001165963.4(SCN1A):c.4581+12C>T |
single nucleotide variant |
Early infantile epileptic encephalopathy with suppression bursts [RCV002057581]|Epilepsy [RCV000358315]|Generalized epilepsy with febrile seizures plus, type 2 [RCV001129478]|Migraine, familial hemiplegic, 3 [RCV000266592]|not specified [RCV000439107] |
Chr2:165996001 [GRCh38]
Chr2:166852511 [GRCh37]
Chr2:2q24.3 |
likely benign|uncertain significance |
| NM_001165963.4(SCN1A):c.2331del (p.Ile776_Cys777insTer) |
deletion |
not provided [RCV000407595] |
Chr2:166041315 [GRCh38]
Chr2:166897825 [GRCh37]
Chr2:2q24.3 |
pathogenic |
| NM_001165963.4(SCN1A):c.5532A>G (p.Pro1844=) |
single nucleotide variant |
Early infantile epileptic encephalopathy with suppression bursts [RCV001409430]|not provided [RCV000725619] |
Chr2:165991743 [GRCh38]
Chr2:166848253 [GRCh37]
Chr2:2q24.3 |
likely benign|conflicting interpretations of pathogenicity|uncertain significance |
| NM_001165963.4(SCN1A):c.5338A>G (p.Met1780Val) |
single nucleotide variant |
not provided [RCV000489093] |
Chr2:165991937 [GRCh38]
Chr2:166848447 [GRCh37]
Chr2:2q24.3 |
likely pathogenic |
| NM_001165963.4(SCN1A):c.1603C>T (p.Arg535Cys) |
single nucleotide variant |
Early infantile epileptic encephalopathy with suppression bursts [RCV000636267]|not provided [RCV000489157] |
Chr2:166045102 [GRCh38]
Chr2:166901612 [GRCh37]
Chr2:2q24.3 |
likely benign|uncertain significance |
| NM_001165963.4(SCN1A):c.5403_5406del (p.Ser1801fs) |
microsatellite |
not provided [RCV000489185] |
Chr2:165991869..165991872 [GRCh38]
Chr2:166848379..166848382 [GRCh37]
Chr2:2q24.3 |
pathogenic |
| NM_001165963.4(SCN1A):c.3429+109T>A |
single nucleotide variant |
not provided [RCV001565806] |
Chr2:166035939 [GRCh38]
Chr2:166892449 [GRCh37]
Chr2:2q24.3 |
likely benign |
| NM_001165963.4(SCN1A):c.3880-2_3880-1del |
deletion |
Severe myoclonic epilepsy in infancy [RCV002284135] |
Chr2:166009842..166009843 [GRCh38]
Chr2:166866352..166866353 [GRCh37]
Chr2:2q24.3 |
pathogenic |
| NM_001165963.4(SCN1A):c.4380T>A (p.Tyr1460Ter) |
single nucleotide variant |
Early infantile epileptic encephalopathy with suppression bursts [RCV003753228]|Severe myoclonic epilepsy in infancy [RCV002284137] |
Chr2:165998134 [GRCh38]
Chr2:166854644 [GRCh37]
Chr2:2q24.3 |
pathogenic |
| NM_001165963.4(SCN1A):c.4550A>G (p.Lys1517Arg) |
single nucleotide variant |
Early infantile epileptic encephalopathy with suppression bursts [RCV002032562]|Inborn genetic diseases [RCV002334590]|SCN1A-related condition [RCV003405710]|not provided [RCV001546532] |
Chr2:165996044 [GRCh38]
Chr2:166852554 [GRCh37]
Chr2:2q24.3 |
uncertain significance |
| NM_001165963.4(SCN1A):c.2349T>G (p.Leu783=) |
single nucleotide variant |
Early infantile epileptic encephalopathy with suppression bursts [RCV000526153] |
Chr2:166041297 [GRCh38]
Chr2:166897807 [GRCh37]
Chr2:2q24.3 |
likely benign |
| NM_001165963.4(SCN1A):c.5383G>C (p.Glu1795Gln) |
single nucleotide variant |
Early infantile epileptic encephalopathy with suppression bursts [RCV003753125]|Generalized epilepsy with febrile seizures plus, type 2 [RCV001328671]|not provided [RCV000489481] |
Chr2:165991892 [GRCh38]
Chr2:166848402 [GRCh37]
Chr2:2q24.3 |
likely pathogenic|uncertain significance |
| NM_001165963.4(SCN1A):c.818T>C (p.Leu273Pro) |
single nucleotide variant |
not provided [RCV000489544] |
Chr2:166051865 [GRCh38]
Chr2:166908375 [GRCh37]
Chr2:2q24.3 |
likely pathogenic |
| NM_001165963.4(SCN1A):c.383+5C>A |
single nucleotide variant |
not provided [RCV000489621] |
Chr2:166058565 [GRCh38]
Chr2:166915075 [GRCh37]
Chr2:2q24.3 |
likely pathogenic|conflicting interpretations of pathogenicity |
| NM_001165963.4(SCN1A):c.4255G>T (p.Gly1419Ter) |
single nucleotide variant |
not provided [RCV000489767] |
Chr2:166002501 [GRCh38]
Chr2:166859011 [GRCh37]
Chr2:2q24.3 |
likely pathogenic |
| NM_001165963.4(SCN1A):c.4338+74C>T |
single nucleotide variant |
not provided [RCV001571949] |
Chr2:165999649 [GRCh38]
Chr2:166856159 [GRCh37]
Chr2:2q24.3 |
likely benign |
| NM_001165963.4(SCN1A):c.4529C>T (p.Ala1510Val) |
single nucleotide variant |
Early infantile epileptic encephalopathy with suppression bursts [RCV001385358]|Generalized epilepsy with febrile seizures plus, type 2 [RCV001328670]|not provided [RCV000487743] |
Chr2:165996065 [GRCh38]
Chr2:166852575 [GRCh37]
Chr2:2q24.3 |
pathogenic|likely pathogenic|uncertain significance |
| NM_001165963.4(SCN1A):c.249C>T (p.Tyr83=) |
single nucleotide variant |
not provided [RCV003312501] |
Chr2:166073373 [GRCh38]
Chr2:166929883 [GRCh37]
Chr2:2q24.3 |
likely benign |
| NM_001165963.4(SCN1A):c.5613T>A (p.Phe1871Leu) |
single nucleotide variant |
not provided [RCV000585452] |
Chr2:165991662 [GRCh38]
Chr2:166848172 [GRCh37]
Chr2:2q24.3 |
uncertain significance |
| NM_001165963.4(SCN1A):c.266del (p.Thr89fs) |
deletion |
not provided [RCV000487842] |
Chr2:166058687 [GRCh38]
Chr2:166915197 [GRCh37]
Chr2:2q24.3 |
likely pathogenic |
| NM_001165963.4(SCN1A):c.3074A>T (p.Tyr1025Phe) |
single nucleotide variant |
Early infantile epileptic encephalopathy with suppression bursts [RCV001448434]|not provided [RCV000487912] |
Chr2:166036403 [GRCh38]
Chr2:166892913 [GRCh37]
Chr2:2q24.3 |
likely benign|uncertain significance |
| NM_001165963.4(SCN1A):c.1388C>T (p.Thr463Met) |
single nucleotide variant |
Early infantile epileptic encephalopathy with suppression bursts [RCV001866051]|not provided [RCV001574278] |
Chr2:166045317 [GRCh38]
Chr2:166901827 [GRCh37]
Chr2:2q24.3 |
likely benign|uncertain significance |
| NM_001165963.4(SCN1A):c.2509G>A (p.Gly837Ser) |
single nucleotide variant |
Early infantile epileptic encephalopathy with suppression bursts [RCV001367628]|not provided [RCV001581102] |
Chr2:166039503 [GRCh38]
Chr2:166896013 [GRCh37]
Chr2:2q24.3 |
uncertain significance |
| NM_001165963.4(SCN1A):c.3862G>C (p.Asp1288His) |
single nucleotide variant |
not provided [RCV000523666] |
Chr2:166012126 [GRCh38]
Chr2:166868636 [GRCh37]
Chr2:2q24.3 |
likely pathogenic|uncertain significance |
| NM_001165963.4(SCN1A):c.2587T>C (p.Leu863=) |
single nucleotide variant |
Early infantile epileptic encephalopathy with suppression bursts [RCV001421069] |
Chr2:166039425 [GRCh38]
Chr2:166895935 [GRCh37]
Chr2:2q24.3 |
likely benign |
| NM_001165963.4(SCN1A):c.1680T>C (p.Arg560=) |
single nucleotide variant |
Early infantile epileptic encephalopathy with suppression bursts [RCV001078972]|Inborn genetic diseases [RCV002315889]|SCN1A-related condition [RCV003952960]|not provided [RCV000598096]|not specified [RCV002469216] |
Chr2:166044032 [GRCh38]
Chr2:166900542 [GRCh37]
Chr2:2q24.3 |
benign|likely benign|conflicting interpretations of pathogenicity|uncertain significance |
| NM_001165963.4(SCN1A):c.873T>C (p.Ser291=) |
single nucleotide variant |
not provided [RCV001574503] |
Chr2:166051810 [GRCh38]
Chr2:166908320 [GRCh37]
Chr2:2q24.3 |
likely benign |
| NM_001165963.4(SCN1A):c.607G>A (p.Val203Ile) |
single nucleotide variant |
Early infantile epileptic encephalopathy with suppression bursts [RCV000545965]|Seizure [RCV002275035]|not provided [RCV000489802] |
Chr2:166052939 [GRCh38]
Chr2:166909449 [GRCh37]
Chr2:2q24.3 |
likely pathogenic|uncertain significance |
| NM_001165963.4(SCN1A):c.3039A>G (p.Gln1013=) |
single nucleotide variant |
Early infantile epileptic encephalopathy with suppression bursts [RCV001470063]|Inborn genetic diseases [RCV002318590]|not provided [RCV000488083]|not specified [RCV000516590] |
Chr2:166036438 [GRCh38]
Chr2:166892948 [GRCh37]
Chr2:2q24.3 |
likely benign|conflicting interpretations of pathogenicity|uncertain significance |
| NM_001165963.4(SCN1A):c.5877G>T (p.Met1959Ile) |
single nucleotide variant |
Early infantile epileptic encephalopathy with suppression bursts [RCV001476355]|Inborn genetic diseases [RCV002356797]|SCN1A-related condition [RCV003419819]|not provided [RCV000488105] |
Chr2:165991398 [GRCh38]
Chr2:166847908 [GRCh37]
Chr2:2q24.3 |
likely benign|conflicting interpretations of pathogenicity|uncertain significance |
| NM_001165963.4(SCN1A):c.4284+5G>A |
single nucleotide variant |
not provided [RCV000488154] |
Chr2:166002467 [GRCh38]
Chr2:166858977 [GRCh37]
Chr2:2q24.3 |
uncertain significance |
| NM_001165963.4(SCN1A):c.4476G>A (p.Lys1492=) |
single nucleotide variant |
Early infantile epileptic encephalopathy with suppression bursts [RCV002526025]|Severe myoclonic epilepsy in infancy [RCV001814163]|not provided [RCV000489904] |
Chr2:165998038 [GRCh38]
Chr2:166854548 [GRCh37]
Chr2:2q24.3 |
pathogenic|likely pathogenic|uncertain significance |
| NM_001165963.4(SCN1A):c.5375C>A (p.Ala1792Asp) |
single nucleotide variant |
not provided [RCV000489965] |
Chr2:165991900 [GRCh38]
Chr2:166848410 [GRCh37]
Chr2:2q24.3 |
likely pathogenic |
| NM_001165963.4(SCN1A):c.5270G>A (p.Gly1757Glu) |
single nucleotide variant |
Early infantile epileptic encephalopathy with suppression bursts [RCV002526043]|not provided [RCV000489977] |
Chr2:165992005 [GRCh38]
Chr2:166848515 [GRCh37]
Chr2:2q24.3 |
pathogenic|likely pathogenic |
| NM_001165963.4(SCN1A):c.5677T>C (p.Phe1893Leu) |
single nucleotide variant |
not provided [RCV000489982] |
Chr2:165991598 [GRCh38]
Chr2:166848108 [GRCh37]
Chr2:2q24.3 |
uncertain significance |
| NM_001165963.4(SCN1A):c.1663-2A>C |
single nucleotide variant |
not provided [RCV000490185] |
Chr2:166044051 [GRCh38]
Chr2:166900561 [GRCh37]
Chr2:2q24.3 |
pathogenic |
| NM_001165963.4(SCN1A):c.3278A>G (p.Glu1093Gly) |
single nucleotide variant |
not provided [RCV003314984] |
Chr2:166036199 [GRCh38]
Chr2:166892709 [GRCh37]
Chr2:2q24.3 |
uncertain significance |
| NM_001165963.4(SCN1A):c.126del (p.Asp43fs) |
deletion |
Severe myoclonic epilepsy in infancy [RCV000588446] |
Chr2:166073496 [GRCh38]
Chr2:166930006 [GRCh37]
Chr2:2q24.3 |
pathogenic |
| NM_001165963.4(SCN1A):c.4441G>A (p.Val1481Ile) |
single nucleotide variant |
Intellectual disability [RCV001257670]|not provided [RCV000489011] |
Chr2:165998073 [GRCh38]
Chr2:166854583 [GRCh37]
Chr2:2q24.3 |
pathogenic|likely pathogenic |
| NM_001165963.4(SCN1A):c.*672_*675del |
deletion |
Epilepsy [RCV000392480]|Familial hemiplegic migraine [RCV000365260] |
Chr2:165990570..165990573 [GRCh38]
Chr2:166847080..166847083 [GRCh37]
Chr2:2q24.3 |
uncertain significance |
| NM_001165963.4(SCN1A):c.*1482G>A |
single nucleotide variant |
Epilepsy [RCV000305504]|Generalized epilepsy with febrile seizures plus, type 2 [RCV001136240]|Migraine, familial hemiplegic, 3 [RCV000362557] |
Chr2:165989763 [GRCh38]
Chr2:166846273 [GRCh37]
Chr2:2q24.3 |
uncertain significance |
| NM_001165963.4(SCN1A):c.5294T>G (p.Phe1765Cys) |
single nucleotide variant |
not provided [RCV000521738] |
Chr2:165991981 [GRCh38]
Chr2:166848491 [GRCh37]
Chr2:2q24.3 |
likely pathogenic |
| NM_001165963.4(SCN1A):c.1548T>G (p.Asp516Glu) |
single nucleotide variant |
not provided [RCV000521819] |
Chr2:166045157 [GRCh38]
Chr2:166901667 [GRCh37]
Chr2:2q24.3 |
uncertain significance |
| NM_001165963.4(SCN1A):c.3347C>A (p.Pro1116Gln) |
single nucleotide variant |
not provided [RCV000585308] |
Chr2:166036130 [GRCh38]
Chr2:166892640 [GRCh37]
Chr2:2q24.3 |
uncertain significance |
| NM_001165963.4(SCN1A):c.*878dup |
duplication |
Epilepsy [RCV000285778]|Familial hemiplegic migraine [RCV000343030] |
Chr2:165990366..165990367 [GRCh38]
Chr2:166846876..166846877 [GRCh37]
Chr2:2q24.3 |
uncertain significance |
| NM_001165963.4(SCN1A):c.565C>G (p.Pro189Ala) |
single nucleotide variant |
Early infantile epileptic encephalopathy with suppression bursts [RCV001327460]|Epilepsy [RCV000401719]|Generalized epilepsy with febrile seizures plus, type 2 [RCV001132514]|Migraine, familial hemiplegic, 3 [RCV000337898] |
Chr2:166054675 [GRCh38]
Chr2:166911185 [GRCh37]
Chr2:2q24.3 |
uncertain significance |
| NM_001165963.4(SCN1A):c.*912T>A |
single nucleotide variant |
Epilepsy [RCV000389978]|Generalized epilepsy with febrile seizures plus, type 2 [RCV001132924]|Migraine, familial hemiplegic, 3 [RCV000338191] |
Chr2:165990333 [GRCh38]
Chr2:166846843 [GRCh37]
Chr2:2q24.3 |
uncertain significance |
| NM_001165963.4(SCN1A):c.5992G>C (p.Glu1998Gln) |
single nucleotide variant |
Early infantile epileptic encephalopathy with suppression bursts [RCV001850783]|Epilepsy [RCV000287432]|Generalized epilepsy with febrile seizures plus, type 2 [RCV001133022]|Migraine, familial hemiplegic, 3 [RCV000379513] |
Chr2:165991283 [GRCh38]
Chr2:166847793 [GRCh37]
Chr2:2q24.3 |
uncertain significance |
| NM_001165963.4(SCN1A):c.3513T>C (p.Pro1171=) |
single nucleotide variant |
Epilepsy [RCV000299514]|Generalized epilepsy with febrile seizures plus, type 2 [RCV001129579]|Migraine, familial hemiplegic, 3 [RCV000399089] |
Chr2:166015644 [GRCh38]
Chr2:166872154 [GRCh37]
Chr2:2q24.3 |
uncertain significance |
| NM_001165963.4(SCN1A):c.4477-11C>A |
single nucleotide variant |
not specified [RCV000605470] |
Chr2:165996128 [GRCh38]
Chr2:166852638 [GRCh37]
Chr2:2q24.3 |
likely benign |
| NM_001165963.4(SCN1A):c.3295G>T (p.Glu1099Ter) |
single nucleotide variant |
not provided [RCV000520133] |
Chr2:166036182 [GRCh38]
Chr2:166892692 [GRCh37]
Chr2:2q24.3 |
pathogenic |
| NM_001165963.4(SCN1A):c.4171A>C (p.Asn1391His) |
single nucleotide variant |
Early infantile epileptic encephalopathy with suppression bursts [RCV001088294]|Inborn genetic diseases [RCV002311841]|SCN1A-related conditions [RCV001729621]|not provided [RCV000520201] |
Chr2:166002585 [GRCh38]
Chr2:166859095 [GRCh37]
Chr2:2q24.3 |
likely pathogenic|likely benign|conflicting interpretations of pathogenicity|uncertain significance |
| NM_001165963.4(SCN1A):c.5026C>T (p.Leu1676=) |
single nucleotide variant |
not specified [RCV000606047] |
Chr2:165992249 [GRCh38]
Chr2:166848759 [GRCh37]
Chr2:2q24.3 |
likely benign |
| NM_001165963.4(SCN1A):c.1360C>A (p.Gln454Lys) |
single nucleotide variant |
Early infantile epileptic encephalopathy with suppression bursts [RCV001854025]|not provided [RCV000591739] |
Chr2:166046787 [GRCh38]
Chr2:166903297 [GRCh37]
Chr2:2q24.3 |
uncertain significance |
| NM_001165963.4(SCN1A):c.3249A>C (p.Thr1083=) |
single nucleotide variant |
not specified [RCV000606294] |
Chr2:166036228 [GRCh38]
Chr2:166892738 [GRCh37]
Chr2:2q24.3 |
likely benign |
| NM_001165963.4(SCN1A):c.3706-20G>A |
single nucleotide variant |
Early infantile epileptic encephalopathy with suppression bursts [RCV002064065]|not specified [RCV000601491] |
Chr2:166012302 [GRCh38]
Chr2:166868812 [GRCh37]
Chr2:2q24.3 |
likely benign |
| NM_001165963.4(SCN1A):c.4003-8T>C |
single nucleotide variant |
not specified [RCV000601657] |
Chr2:166002761 [GRCh38]
Chr2:166859271 [GRCh37]
Chr2:2q24.3 |
likely benign |
| NM_001165963.4(SCN1A):c.1429G>C (p.Gly477Arg) |
single nucleotide variant |
not specified [RCV000516405] |
Chr2:166045276 [GRCh38]
Chr2:166901786 [GRCh37]
Chr2:2q24.3 |
uncertain significance |
| NM_001165963.4(SCN1A):c.4853-1G>C |
single nucleotide variant |
Early infantile epileptic encephalopathy with suppression bursts [RCV001387750]|Severe myoclonic epilepsy in infancy [RCV002289845]|not provided [RCV000578728] |
Chr2:165992423 [GRCh38]
Chr2:166848933 [GRCh37]
Chr2:2q24.3 |
pathogenic |
| NM_001165963.4(SCN1A):c.2416-1G>A |
single nucleotide variant |
Generalized epilepsy with febrile seizures plus, type 2 [RCV000626120] |
Chr2:166039597 [GRCh38]
Chr2:166896107 [GRCh37]
Chr2:2q24.3 |
pathogenic|uncertain significance |
| NM_001165963.4(SCN1A):c.1008T>G (p.Cys336Trp) |
single nucleotide variant |
Early infantile epileptic encephalopathy with suppression bursts [RCV000553399] |
Chr2:166048906 [GRCh38]
Chr2:166905416 [GRCh37]
Chr2:2q24.3 |
likely pathogenic|uncertain significance |
| NC_000002.11:g.(?_166847704)_(166930181_?)dup |
duplication |
Severe myoclonic epilepsy in infancy [RCV000585835] |
Chr2:165991194..166073671 [GRCh38]
Chr2:166847704..166930181 [GRCh37]
Chr2:2q24.3 |
likely pathogenic |
| NM_001165963.4(SCN1A):c.5351T>A (p.Val1784Asp) |
single nucleotide variant |
Early infantile epileptic encephalopathy with suppression bursts [RCV002298690]|Severe myoclonic epilepsy in infancy [RCV000578114] |
Chr2:165991924 [GRCh38]
Chr2:166848434 [GRCh37]
Chr2:2q24.3 |
uncertain significance |
| NM_001165963.4(SCN1A):c.3093T>A (p.Tyr1031Ter) |
single nucleotide variant |
not provided [RCV000578678] |
Chr2:166036384 [GRCh38]
Chr2:166892894 [GRCh37]
Chr2:2q24.3 |
pathogenic |
| NM_001165963.4(SCN1A):c.4040T>A (p.Ile1347Asn) |
single nucleotide variant |
Early infantile epileptic encephalopathy with suppression bursts [RCV003588648]|Severe myoclonic epilepsy in infancy [RCV000578191] |
Chr2:166002716 [GRCh38]
Chr2:166859226 [GRCh37]
Chr2:2q24.3 |
likely pathogenic |
| NM_001165963.4(SCN1A):c.3502G>A (p.Val1168Ile) |
single nucleotide variant |
Early infantile epileptic encephalopathy with suppression bursts [RCV002530921]|not provided [RCV000587683] |
Chr2:166015655 [GRCh38]
Chr2:166872165 [GRCh37]
Chr2:2q24.3 |
likely benign|uncertain significance |
| NM_001165963.4(SCN1A):c.3118A>C (p.Arg1040=) |
single nucleotide variant |
Early infantile epileptic encephalopathy with suppression bursts [RCV001490612]|not provided [RCV000596741] |
Chr2:166036359 [GRCh38]
Chr2:166892869 [GRCh37]
Chr2:2q24.3 |
likely benign|uncertain significance |
| NM_001165963.4(SCN1A):c.3952_3975del (p.Leu1318_Arg1325del) |
deletion |
Early infantile epileptic encephalopathy with suppression bursts [RCV003588650]|not provided [RCV000598964] |
Chr2:166009746..166009769 [GRCh38]
Chr2:166866256..166866279 [GRCh37]
Chr2:2q24.3 |
pathogenic |
| NM_001165963.4(SCN1A):c.5777A>G (p.Tyr1926Cys) |
single nucleotide variant |
Early infantile epileptic encephalopathy with suppression bursts [RCV000636264]|Inborn genetic diseases [RCV002358408]|not provided [RCV000520906] |
Chr2:165991498 [GRCh38]
Chr2:166848008 [GRCh37]
Chr2:2q24.3 |
likely benign|uncertain significance |
| NM_001165963.4(SCN1A):c.4612G>A (p.Val1538Ile) |
single nucleotide variant |
Early infantile epileptic encephalopathy with suppression bursts [RCV001337164]|Generalized epilepsy with febrile seizures plus, type 2 [RCV001262414]|Inborn genetic diseases [RCV002317333]|Migraine, familial hemiplegic, 3 [RCV000764285]|not provided [RCV000587898] |
Chr2:165994386 [GRCh38]
Chr2:166850896 [GRCh37]
Chr2:2q24.3 |
pathogenic|likely pathogenic|uncertain significance |
| NM_001165963.4(SCN1A):c.3852G>A (p.Trp1284Ter) |
single nucleotide variant |
not provided [RCV000627234] |
Chr2:166012136 [GRCh38]
Chr2:166868646 [GRCh37]
Chr2:2q24.3 |
pathogenic |
| NM_001165963.4(SCN1A):c.5911G>C (p.Glu1971Gln) |
single nucleotide variant |
not provided [RCV000523148] |
Chr2:165991364 [GRCh38]
Chr2:166847874 [GRCh37]
Chr2:2q24.3 |
uncertain significance |
| NM_001165963.4(SCN1A):c.3660del (p.Phe1220fs) |
deletion |
not provided [RCV000584976] |
Chr2:166013789 [GRCh38]
Chr2:166870299 [GRCh37]
Chr2:2q24.3 |
likely pathogenic |
| NM_001165963.4(SCN1A):c.2380G>A (p.Asp794Asn) |
single nucleotide variant |
Early infantile epileptic encephalopathy with suppression bursts [RCV001227486]|not provided [RCV000585058] |
Chr2:166041266 [GRCh38]
Chr2:166897776 [GRCh37]
Chr2:2q24.3 |
uncertain significance |
| NM_001165963.4(SCN1A):c.3120G>T (p.Arg1040Ser) |
single nucleotide variant |
Early infantile epileptic encephalopathy with suppression bursts [RCV001045518]|Inborn genetic diseases [RCV002325127]|SCN1A-related condition [RCV003915713]|not provided [RCV000592994] |
Chr2:166036357 [GRCh38]
Chr2:166892867 [GRCh37]
Chr2:2q24.3 |
likely benign|uncertain significance |
| NM_001165963.4(SCN1A):c.4172A>G (p.Asn1391Ser) |
single nucleotide variant |
not provided [RCV000523236] |
Chr2:166002584 [GRCh38]
Chr2:166859094 [GRCh37]
Chr2:2q24.3 |
likely pathogenic |
| NM_001165963.4(SCN1A):c.5117A>C (p.Asn1706Thr) |
single nucleotide variant |
Early infantile epileptic encephalopathy with suppression bursts [RCV002530922]|not provided [RCV000586336] |
Chr2:165992158 [GRCh38]
Chr2:166848668 [GRCh37]
Chr2:2q24.3 |
uncertain significance |
| NM_001165963.4(SCN1A):c.971ATT[1] (p.Tyr325del) |
microsatellite |
Obesity [RCV000626774]|not provided [RCV000599280] |
Chr2:166048938..166048940 [GRCh38]
Chr2:166905448..166905450 [GRCh37]
Chr2:2q24.3 |
pathogenic|likely pathogenic |
| NM_001165963.4(SCN1A):c.5606T>C (p.Phe1869Ser) |
single nucleotide variant |
not provided [RCV000593202] |
Chr2:165991669 [GRCh38]
Chr2:166848179 [GRCh37]
Chr2:2q24.3 |
uncertain significance |
| NM_001165963.4(SCN1A):c.5988A>C (p.Lys1996Asn) |
single nucleotide variant |
Early infantile epileptic encephalopathy with suppression bursts [RCV000636263]|Migraine, familial hemiplegic, 3 [RCV000764281]|not provided [RCV000593278] |
Chr2:165991287 [GRCh38]
Chr2:166847797 [GRCh37]
Chr2:2q24.3 |
likely benign|uncertain significance |
| NM_001165963.4(SCN1A):c.607_611del (p.Val203fs) |
deletion |
not provided [RCV000599363] |
Chr2:166052935..166052939 [GRCh38]
Chr2:166909445..166909449 [GRCh37]
Chr2:2q24.3 |
pathogenic |
| NM_001165963.4(SCN1A):c.2946+19T>C |
single nucleotide variant |
Early infantile epileptic encephalopathy with suppression bursts [RCV002061975]|not provided [RCV000589166] |
Chr2:166037757 [GRCh38]
Chr2:166894267 [GRCh37]
Chr2:2q24.3 |
benign|likely benign |
| NM_001165963.4(SCN1A):c.1462_1466del (p.Lys488fs) |
deletion |
not provided [RCV000599210] |
Chr2:166045239..166045243 [GRCh38]
Chr2:166901749..166901753 [GRCh37]
Chr2:2q24.3 |
pathogenic |
| NM_001165963.4(SCN1A):c.2565_2568dup (p.Val857fs) |
duplication |
Early infantile epileptic encephalopathy with suppression bursts [RCV000551996] |
Chr2:166039443..166039444 [GRCh38]
Chr2:166895953..166895954 [GRCh37]
Chr2:2q24.3 |
pathogenic |
| NM_001165963.4(SCN1A):c.1797G>A (p.Glu599=) |
single nucleotide variant |
Early infantile epileptic encephalopathy with suppression bursts [RCV001088910]|Inborn genetic diseases [RCV002315893]|not provided [RCV000593564] |
Chr2:166043915 [GRCh38]
Chr2:166900425 [GRCh37]
Chr2:2q24.3 |
likely benign|conflicting interpretations of pathogenicity|uncertain significance |
| NM_001165963.4(SCN1A):c.5407G>A (p.Asp1803Asn) |
single nucleotide variant |
not provided [RCV000590085] |
Chr2:165991868 [GRCh38]
Chr2:166848378 [GRCh37]
Chr2:2q24.3 |
uncertain significance |
| NM_001165963.4(SCN1A):c.4905C>T (p.Phe1635=) |
single nucleotide variant |
Early infantile epileptic encephalopathy with suppression bursts [RCV001516756]|Inborn genetic diseases [RCV002341500]|not provided [RCV000590195] |
Chr2:165992370 [GRCh38]
Chr2:166848880 [GRCh37]
Chr2:2q24.3 |
benign|likely benign |
| NM_001165963.4(SCN1A):c.5734C>T (p.Arg1912Ter) |
single nucleotide variant |
Autosomal dominant epilepsy [RCV000586829]|Early infantile epileptic encephalopathy with suppression bursts [RCV001223212]|Migraine, familial hemiplegic, 3 [RCV002221562]|not provided [RCV001090356] |
Chr2:165991541 [GRCh38]
Chr2:166848051 [GRCh37]
Chr2:2q24.3 |
pathogenic |
| NM_001165963.4(SCN1A):c.1028+21T>C |
single nucleotide variant |
not provided [RCV000590529] |
Chr2:166048865 [GRCh38]
Chr2:166905375 [GRCh37]
Chr2:2q24.3 |
benign |
| NM_001165963.4(SCN1A):c.4043T>C (p.Met1348Thr) |
single nucleotide variant |
Generalized epilepsy with febrile seizures plus, type 2 [RCV000767349] |
Chr2:166002713 [GRCh38]
Chr2:166859223 [GRCh37]
Chr2:2q24.3 |
likely pathogenic |
| NM_001165963.4(SCN1A):c.3477C>T (p.Ile1159=) |
single nucleotide variant |
Early infantile epileptic encephalopathy with suppression bursts [RCV003753144]|not specified [RCV000603260] |
Chr2:166015680 [GRCh38]
Chr2:166872190 [GRCh37]
Chr2:2q24.3 |
benign|likely benign |
| NM_001165963.4(SCN1A):c.6009_6013dup (p.Lys2005fs) |
duplication |
not provided [RCV000627500] |
Chr2:165991261..165991262 [GRCh38]
Chr2:166847771..166847772 [GRCh37]
Chr2:2q24.3 |
uncertain significance |
| NM_001165963.4(SCN1A):c.2125C>G (p.Gln709Glu) |
single nucleotide variant |
Early infantile epileptic encephalopathy with suppression bursts [RCV000691064]|not specified [RCV000414418] |
Chr2:166042343 [GRCh38]
Chr2:166898853 [GRCh37]
Chr2:2q24.3 |
likely benign|uncertain significance |
| NM_001165963.4(SCN1A):c.5670A>G (p.Glu1890=) |
single nucleotide variant |
not provided [RCV000415768] |
Chr2:165991605 [GRCh38]
Chr2:166848115 [GRCh37]
Chr2:2q24.3 |
uncertain significance |
| NM_001165963.4(SCN1A):c.4582-3C>T |
single nucleotide variant |
not provided [RCV000415775] |
Chr2:165994419 [GRCh38]
Chr2:166850929 [GRCh37]
Chr2:2q24.3 |
pathogenic|uncertain significance |
| NM_001165963.4(SCN1A):c.3902C>T (p.Ala1301Val) |
single nucleotide variant |
Early infantile epileptic encephalopathy with suppression bursts [RCV000556885] |
Chr2:166009819 [GRCh38]
Chr2:166866329 [GRCh37]
Chr2:2q24.3 |
uncertain significance |
| NM_001165963.4(SCN1A):c.2816A>C (p.His939Pro) |
single nucleotide variant |
not provided [RCV001092112] |
Chr2:166037906 [GRCh38]
Chr2:166894416 [GRCh37]
Chr2:2q24.3 |
likely pathogenic |
| NM_001165963.4(SCN1A):c.5351T>C (p.Val1784Ala) |
single nucleotide variant |
Severe myoclonic epilepsy in infancy [RCV000414903] |
Chr2:165991924 [GRCh38]
Chr2:166848434 [GRCh37]
Chr2:2q24.3 |
likely pathogenic |
| NM_001165963.4(SCN1A):c.3821A>G (p.Tyr1274Cys) |
single nucleotide variant |
not provided [RCV000728735] |
Chr2:166012167 [GRCh38]
Chr2:166868677 [GRCh37]
Chr2:2q24.3 |
uncertain significance |
| NM_001165963.4(SCN1A):c.1709G>A (p.Ser570Asn) |
single nucleotide variant |
Early infantile epileptic encephalopathy with suppression bursts [RCV001861452]|Inborn genetic diseases [RCV002402109]|Severe myoclonic epilepsy in infancy [RCV000415450]|not provided [RCV001584109] |
Chr2:166044003 [GRCh38]
Chr2:166900513 [GRCh37]
Chr2:2q24.3 |
likely pathogenic|uncertain significance |
| NM_001165963.4(SCN1A):c.580G>T (p.Asp194Tyr) |
single nucleotide variant |
Early infantile epileptic encephalopathy with suppression bursts [RCV000557448] |
Chr2:166054660 [GRCh38]
Chr2:166911170 [GRCh37]
Chr2:2q24.3 |
pathogenic|uncertain significance |
| NC_000002.12:g.(?_165874735)_(166311776_?)del |
deletion |
Early infantile epileptic encephalopathy with suppression bursts [RCV000539384] |
Chr2:165874735..166311776 [GRCh38]
Chr2:166731245..167168286 [GRCh37]
Chr2:2q24.3 |
pathogenic |
| NM_001165963.4(SCN1A):c.2947-7T>G |
single nucleotide variant |
Early infantile epileptic encephalopathy with suppression bursts [RCV001088766]|not provided [RCV000840211] |
Chr2:166036537 [GRCh38]
Chr2:166893047 [GRCh37]
Chr2:2q24.3 |
likely benign |
| NM_001165963.4(SCN1A):c.4109C>T (p.Ala1370Val) |
single nucleotide variant |
Early infantile epileptic encephalopathy with suppression bursts [RCV000557695] |
Chr2:166002647 [GRCh38]
Chr2:166859157 [GRCh37]
Chr2:2q24.3 |
pathogenic |
| NM_001165963.4(SCN1A):c.18T>G (p.Leu6=) |
single nucleotide variant |
Early infantile epileptic encephalopathy with suppression bursts [RCV000537859]|Inborn genetic diseases [RCV002413488]|not specified [RCV000604377] |
Chr2:166073604 [GRCh38]
Chr2:166930114 [GRCh37]
Chr2:2q24.3 |
likely benign |
| NM_001165963.4(SCN1A):c.134A>G (p.Asp45Gly) |
single nucleotide variant |
Early infantile epileptic encephalopathy with suppression bursts [RCV001058607]|not provided [RCV000729035] |
Chr2:166073488 [GRCh38]
Chr2:166929998 [GRCh37]
Chr2:2q24.3 |
uncertain significance |
| NM_001165963.4(SCN1A):c.384-3T>C |
single nucleotide variant |
Early infantile epileptic encephalopathy with suppression bursts [RCV001494212] |
Chr2:166056503 [GRCh38]
Chr2:166913013 [GRCh37]
Chr2:2q24.3 |
likely benign|uncertain significance |
| NM_001165963.4(SCN1A):c.5245G>A (p.Gly1749Arg) |
single nucleotide variant |
Early infantile epileptic encephalopathy with suppression bursts [RCV001861426]|not provided [RCV000412769] |
Chr2:165992030 [GRCh38]
Chr2:166848540 [GRCh37]
Chr2:2q24.3 |
pathogenic|likely pathogenic |
| NM_001165963.4(SCN1A):c.454dup (p.Asp152fs) |
duplication |
Early infantile epileptic encephalopathy with suppression bursts [RCV000535776] |
Chr2:166056429..166056430 [GRCh38]
Chr2:166912939..166912940 [GRCh37]
Chr2:2q24.3 |
pathogenic |
| NM_001165963.4(SCN1A):c.1377+1del |
deletion |
not provided [RCV000413091] |
Chr2:166046769 [GRCh38]
Chr2:166903279 [GRCh37]
Chr2:2q24.3 |
pathogenic |
| NM_001165963.4(SCN1A):c.2362G>A (p.Glu788Lys) |
single nucleotide variant |
Early infantile epileptic encephalopathy with suppression bursts [RCV003588626]|not provided [RCV000413156] |
Chr2:166041284 [GRCh38]
Chr2:166897794 [GRCh37]
Chr2:2q24.3 |
pathogenic|likely pathogenic |
| NM_001165963.4(SCN1A):c.5282T>C (p.Val1761Ala) |
single nucleotide variant |
Early infantile epileptic encephalopathy with suppression bursts [RCV001865292]|not provided [RCV000413245] |
Chr2:165991993 [GRCh38]
Chr2:166848503 [GRCh37]
Chr2:2q24.3 |
likely pathogenic|uncertain significance |
| NM_001165963.4(SCN1A):c.2927T>C (p.Met976Thr) |
single nucleotide variant |
Early infantile epileptic encephalopathy with suppression bursts [RCV002523945]|Generalized epilepsy with febrile seizures plus, type 2 [RCV002274024]|not provided [RCV000413254] |
Chr2:166037795 [GRCh38]
Chr2:166894305 [GRCh37]
Chr2:2q24.3 |
pathogenic|likely pathogenic |
| NM_001165963.4(SCN1A):c.2594G>A (p.Arg865Gln) |
single nucleotide variant |
Early infantile epileptic encephalopathy with suppression bursts [RCV000696398]|Generalized epilepsy with febrile seizures plus, type 2 [RCV002248644]|not provided [RCV000413258] |
Chr2:166038128 [GRCh38]
Chr2:166894638 [GRCh37]
Chr2:2q24.3 |
pathogenic|likely pathogenic|uncertain significance |
| NM_001165963.4(SCN1A):c.5039T>A (p.Val1680Asp) |
single nucleotide variant |
Early infantile epileptic encephalopathy with suppression bursts [RCV000541932] |
Chr2:165992236 [GRCh38]
Chr2:166848746 [GRCh37]
Chr2:2q24.3 |
pathogenic|likely pathogenic |
| NM_001165963.4(SCN1A):c.3016del (p.Asp1006fs) |
deletion |
Generalized epilepsy with febrile seizures plus, type 2 [RCV001194609] |
Chr2:166036461 [GRCh38]
Chr2:166892971 [GRCh37]
Chr2:2q24.3 |
pathogenic |
| NM_001165963.4(SCN1A):c.4321G>A (p.Ala1441Thr) |
single nucleotide variant |
Early infantile epileptic encephalopathy with suppression bursts [RCV000692374]|not provided [RCV000413422] |
Chr2:165999740 [GRCh38]
Chr2:166856250 [GRCh37]
Chr2:2q24.3 |
pathogenic|likely pathogenic|uncertain significance |
| NM_001165963.4(SCN1A):c.2589+1G>T |
single nucleotide variant |
Early infantile epileptic encephalopathy with suppression bursts [RCV002523916]|Generalized epilepsy with febrile seizures plus, type 2 [RCV001270445]|not provided [RCV000413444] |
Chr2:166039422 [GRCh38]
Chr2:166895932 [GRCh37]
Chr2:2q24.3 |
pathogenic |
| NM_001165963.4(SCN1A):c.3082del (p.Arg1028fs) |
deletion |
Early infantile epileptic encephalopathy with suppression bursts [RCV000536084] |
Chr2:166036395 [GRCh38]
Chr2:166892905 [GRCh37]
Chr2:2q24.3 |
pathogenic |
| NM_001165963.4(SCN1A):c.4462del (p.Gln1488fs) |
deletion |
Early infantile epileptic encephalopathy with suppression bursts [RCV000558740] |
Chr2:165998052 [GRCh38]
Chr2:166854562 [GRCh37]
Chr2:2q24.3 |
pathogenic |
| NM_001165963.4(SCN1A):c.2941C>A (p.Leu981Ile) |
single nucleotide variant |
not provided [RCV000413641] |
Chr2:166037781 [GRCh38]
Chr2:166894291 [GRCh37]
Chr2:2q24.3 |
likely pathogenic|conflicting interpretations of pathogenicity |
| NM_001165963.4(SCN1A):c.1662G>C (p.Gln554His) |
single nucleotide variant |
not provided [RCV000413693] |
Chr2:166045043 [GRCh38]
Chr2:166901553 [GRCh37]
Chr2:2q24.3 |
pathogenic |
| NM_001165963.4(SCN1A):c.2606T>C (p.Leu869Ser) |
single nucleotide variant |
not provided [RCV000413718] |
Chr2:166038116 [GRCh38]
Chr2:166894626 [GRCh37]
Chr2:2q24.3 |
likely pathogenic |
| NM_001165963.4(SCN1A):c.1261G>A (p.Val421Met) |
single nucleotide variant |
Severe myoclonic epilepsy in infancy [RCV001328664]|not provided [RCV000413776] |
Chr2:166046886 [GRCh38]
Chr2:166903396 [GRCh37]
Chr2:2q24.3 |
pathogenic|likely pathogenic |
| NM_001165963.4(SCN1A):c.1034G>T (p.Cys345Phe) |
single nucleotide variant |
not provided [RCV000413989] |
Chr2:166047763 [GRCh38]
Chr2:166904273 [GRCh37]
Chr2:2q24.3 |
pathogenic |
| NM_001165963.4(SCN1A):c.5735G>A (p.Arg1912Gln) |
single nucleotide variant |
Early infantile epileptic encephalopathy with suppression bursts [RCV000806199]|Generalized epilepsy with febrile seizures plus, type 2 [RCV001375624]|Inborn genetic diseases [RCV001266647]|not provided [RCV001585733] |
Chr2:165991540 [GRCh38]
Chr2:166848050 [GRCh37]
Chr2:2q24.3 |
uncertain significance |
| NM_001165963.4(SCN1A):c.2404G>A (p.Val802Ile) |
single nucleotide variant |
Early infantile epileptic encephalopathy with suppression bursts [RCV003588628]|not specified [RCV000413874] |
Chr2:166041242 [GRCh38]
Chr2:166897752 [GRCh37]
Chr2:2q24.3 |
uncertain significance |
| NM_001165963.4(SCN1A):c.3898del (p.Thr1300fs) |
deletion |
not provided [RCV000414152] |
Chr2:166009823 [GRCh38]
Chr2:166866333 [GRCh37]
Chr2:2q24.3 |
pathogenic |
| NM_001165963.4(SCN1A):c.1090A>C (p.Ser364Arg) |
single nucleotide variant |
not provided [RCV000414158] |
Chr2:166047707 [GRCh38]
Chr2:166904217 [GRCh37]
Chr2:2q24.3 |
likely pathogenic |
| NM_001165963.4(SCN1A):c.4280A>T (p.Gln1427Leu) |
single nucleotide variant |
not provided [RCV000414265] |
Chr2:166002476 [GRCh38]
Chr2:166858986 [GRCh37]
Chr2:2q24.3 |
likely pathogenic |
| NM_001165963.4(SCN1A):c.5564C>T (p.Pro1855Leu) |
single nucleotide variant |
not provided [RCV000414318] |
Chr2:165991711 [GRCh38]
Chr2:166848221 [GRCh37]
Chr2:2q24.3 |
likely pathogenic |
| NM_001165963.4(SCN1A):c.4788C>T (p.Arg1596=) |
single nucleotide variant |
Early infantile epileptic encephalopathy with suppression bursts [RCV000541205] |
Chr2:165994210 [GRCh38]
Chr2:166850720 [GRCh37]
Chr2:2q24.3 |
likely benign |
| NM_001165963.4(SCN1A):c.566del (p.Pro189fs) |
deletion |
Developmental and epileptic encephalopathy 6B [RCV002289748]|Early infantile epileptic encephalopathy with suppression bursts [RCV000531433] |
Chr2:166054674 [GRCh38]
Chr2:166911184 [GRCh37]
Chr2:2q24.3 |
pathogenic|likely pathogenic |
| GRCh37/hg19 2q24.2-24.3(chr2:163168812-167567296)x3 |
copy number gain |
See cases [RCV000447420] |
Chr2:163168812..167567296 [GRCh37]
Chr2:2q24.2-24.3 |
pathogenic |
| NM_001165963.4(SCN1A):c.429G>A (p.Val143=) |
single nucleotide variant |
Early infantile epileptic encephalopathy with suppression bursts [RCV002061499]|not provided [RCV000997290] |
Chr2:166056455 [GRCh38]
Chr2:166912965 [GRCh37]
Chr2:2q24.3 |
likely benign |
| NM_001165963.4(SCN1A):c.1624C>A (p.Arg542=) |
single nucleotide variant |
Early infantile epileptic encephalopathy with suppression bursts [RCV001516893]|Inborn genetic diseases [RCV002402170]|not provided [RCV000865218] |
Chr2:166045081 [GRCh38]
Chr2:166901591 [GRCh37]
Chr2:2q24.3 |
benign|likely benign |
| NM_001165963.4(SCN1A):c.4003-15C>T |
single nucleotide variant |
not specified [RCV000420635] |
Chr2:166002768 [GRCh38]
Chr2:166859278 [GRCh37]
Chr2:2q24.3 |
likely benign |
| NM_001165963.4(SCN1A):c.4582-12A>G |
single nucleotide variant |
Early infantile epileptic encephalopathy with suppression bursts [RCV002522415]|not specified [RCV000420698] |
Chr2:165994428 [GRCh38]
Chr2:166850938 [GRCh37]
Chr2:2q24.3 |
likely benign |
| NM_001165963.4(SCN1A):c.1548T>C (p.Asp516=) |
single nucleotide variant |
Early infantile epileptic encephalopathy with suppression bursts [RCV001495225]|not provided [RCV000871604]|not specified [RCV000427361] |
Chr2:166045157 [GRCh38]
Chr2:166901667 [GRCh37]
Chr2:2q24.3 |
likely benign |
| NM_001165963.4(SCN1A):c.5896G>T (p.Glu1966Ter) |
single nucleotide variant |
not provided [RCV000434152] |
Chr2:165991379 [GRCh38]
Chr2:166847889 [GRCh37]
Chr2:2q24.3 |
uncertain significance |
| NM_001165963.4(SCN1A):c.579C>T (p.Leu193=) |
single nucleotide variant |
Early infantile epileptic encephalopathy with suppression bursts [RCV001401833]|Inborn genetic diseases [RCV002356528]|SCN1A-related condition [RCV003970122]|not provided [RCV000734486]|not specified [RCV000441457] |
Chr2:166054661 [GRCh38]
Chr2:166911171 [GRCh37]
Chr2:2q24.3 |
benign|likely benign|conflicting interpretations of pathogenicity|uncertain significance |
| NM_001165963.4(SCN1A):c.1170+5G>C |
single nucleotide variant |
Early infantile epileptic encephalopathy with suppression bursts [RCV001071465]|not provided [RCV000443082] |
Chr2:166047622 [GRCh38]
Chr2:166904132 [GRCh37]
Chr2:2q24.3 |
likely pathogenic|uncertain significance |
| NM_001165963.4(SCN1A):c.1069A>T (p.Asn357Tyr) |
single nucleotide variant |
not provided [RCV000443388] |
Chr2:166047728 [GRCh38]
Chr2:166904238 [GRCh37]
Chr2:2q24.3 |
likely pathogenic |
| NM_001165963.4(SCN1A):c.4923T>C (p.Ala1641=) |
single nucleotide variant |
Early infantile epileptic encephalopathy with suppression bursts [RCV001512193]|Inborn genetic diseases [RCV002314163]|SCN1A-related condition [RCV003959883]|not provided [RCV001720010] |
Chr2:165992352 [GRCh38]
Chr2:166848862 [GRCh37]
Chr2:2q24.3 |
benign|likely benign |
| NM_001165963.4(SCN1A):c.3430-7C>A |
single nucleotide variant |
Early infantile epileptic encephalopathy with suppression bursts [RCV001477390]|not specified [RCV000423867] |
Chr2:166015734 [GRCh38]
Chr2:166872244 [GRCh37]
Chr2:2q24.3 |
likely benign |
| NM_001165963.4(SCN1A):c.5823G>A (p.Thr1941=) |
single nucleotide variant |
Early infantile epileptic encephalopathy with suppression bursts [RCV000636534]|not specified [RCV000431114] |
Chr2:165991452 [GRCh38]
Chr2:166847962 [GRCh37]
Chr2:2q24.3 |
likely benign |
| NM_001165963.4(SCN1A):c.2649C>T (p.Ile883=) |
single nucleotide variant |
Early infantile epileptic encephalopathy with suppression bursts [RCV001483665]|Generalized epilepsy with febrile seizures plus, type 2 [RCV001134705]|Migraine, familial hemiplegic, 3 [RCV001133248]|not specified [RCV000431181] |
Chr2:166038073 [GRCh38]
Chr2:166894583 [GRCh37]
Chr2:2q24.3 |
likely benign|uncertain significance |
| NM_001165963.4(SCN1A):c.5763T>C (p.Ile1921=) |
single nucleotide variant |
Early infantile epileptic encephalopathy with suppression bursts [RCV001414320]|not provided [RCV001718866] |
Chr2:165991512 [GRCh38]
Chr2:166848022 [GRCh37]
Chr2:2q24.3 |
likely benign |
| NM_001165963.4(SCN1A):c.1098T>C (p.Asp366=) |
single nucleotide variant |
not provided [RCV001703642] |
Chr2:166047699 [GRCh38]
Chr2:166904209 [GRCh37]
Chr2:2q24.3 |
likely benign |
| NM_001165963.4(SCN1A):c.1759G>A (p.Glu587Lys) |
single nucleotide variant |
not provided [RCV000424180] |
Chr2:166043953 [GRCh38]
Chr2:166900463 [GRCh37]
Chr2:2q24.3 |
uncertain significance |
| NM_001165963.4(SCN1A):c.870T>C (p.His290=) |
single nucleotide variant |
Early infantile epileptic encephalopathy with suppression bursts [RCV003753113]|not specified [RCV000424191] |
Chr2:166051813 [GRCh38]
Chr2:166908323 [GRCh37]
Chr2:2q24.3 |
likely benign |
| NM_001165963.4(SCN1A):c.5852C>T (p.Ala1951Val) |
single nucleotide variant |
not provided [RCV000424221] |
Chr2:165991423 [GRCh38]
Chr2:166847933 [GRCh37]
Chr2:2q24.3 |
uncertain significance |
| NM_001165963.4(SCN1A):c.5739A>G (p.Lys1913=) |
single nucleotide variant |
Early infantile epileptic encephalopathy with suppression bursts [RCV001523625]|not specified [RCV000438196] |
Chr2:165991536 [GRCh38]
Chr2:166848046 [GRCh37]
Chr2:2q24.3 |
benign|likely benign |
| NM_001165963.4(SCN1A):c.1170+16C>T |
single nucleotide variant |
Early infantile epileptic encephalopathy with suppression bursts [RCV002519534]|not specified [RCV000427989] |
Chr2:166047611 [GRCh38]
Chr2:166904121 [GRCh37]
Chr2:2q24.3 |
likely benign |
| NM_001165963.4(SCN1A):c.3512C>T (p.Pro1171Leu) |
single nucleotide variant |
Severe myoclonic epilepsy in infancy [RCV000680090] |
Chr2:166015645 [GRCh38]
Chr2:166872155 [GRCh37]
Chr2:2q24.3 |
uncertain significance |
| NM_001165963.4(SCN1A):c.474-13T>A |
single nucleotide variant |
not specified [RCV000428119] |
Chr2:166054779 [GRCh38]
Chr2:166911289 [GRCh37]
Chr2:2q24.3 |
likely benign |
| NM_001165963.4(SCN1A):c.1988C>T (p.Pro663Leu) |
single nucleotide variant |
not provided [RCV000729887] |
Chr2:166043724 [GRCh38]
Chr2:166900234 [GRCh37]
Chr2:2q24.3 |
uncertain significance |
| NM_001165963.4(SCN1A):c.4913T>A (p.Ile1638Asn) |
single nucleotide variant |
Generalized epilepsy with febrile seizures plus, type 2 [RCV001004732]|not provided [RCV000417978] |
Chr2:165992362 [GRCh38]
Chr2:166848872 [GRCh37]
Chr2:2q24.3 |
pathogenic|likely pathogenic |
| NM_001165963.4(SCN1A):c.3750G>T (p.Thr1250=) |
single nucleotide variant |
Early infantile epileptic encephalopathy with suppression bursts [RCV001402998]|not specified [RCV000442502] |
Chr2:166012238 [GRCh38]
Chr2:166868748 [GRCh37]
Chr2:2q24.3 |
likely benign |
| NM_001165963.4(SCN1A):c.4167C>T (p.Asp1389=) |
single nucleotide variant |
Early infantile epileptic encephalopathy with suppression bursts [RCV001404055]|Inborn genetic diseases [RCV002328919]|not specified [RCV000442561] |
Chr2:166002589 [GRCh38]
Chr2:166859099 [GRCh37]
Chr2:2q24.3 |
likely benign|uncertain significance |
| NM_001165963.4(SCN1A):c.1096G>C (p.Asp366His) |
single nucleotide variant |
Early infantile epileptic encephalopathy with suppression bursts [RCV002522586]|not provided [RCV000419099] |
Chr2:166047701 [GRCh38]
Chr2:166904211 [GRCh37]
Chr2:2q24.3 |
pathogenic|likely pathogenic |
| NM_001165963.4(SCN1A):c.3888G>T (p.Leu1296Phe) |
single nucleotide variant |
not provided [RCV000419495] |
Chr2:166009833 [GRCh38]
Chr2:166866343 [GRCh37]
Chr2:2q24.3 |
uncertain significance |
| NM_001165963.4(SCN1A):c.235G>A (p.Asp79Asn) |
single nucleotide variant |
not provided [RCV000419539] |
Chr2:166073387 [GRCh38]
Chr2:166929897 [GRCh37]
Chr2:2q24.3 |
pathogenic |
| NM_001165963.4(SCN1A):c.1150T>A (p.Trp384Arg) |
single nucleotide variant |
Early infantile epileptic encephalopathy with suppression bursts [RCV000636430]|not provided [RCV000420406] |
Chr2:166047647 [GRCh38]
Chr2:166904157 [GRCh37]
Chr2:2q24.3 |
pathogenic|likely pathogenic |
| NM_001165963.4(SCN1A):c.1170+1G>A |
single nucleotide variant |
Early infantile epileptic encephalopathy with suppression bursts [RCV001861507]|not provided [RCV000420830] |
Chr2:166047626 [GRCh38]
Chr2:166904136 [GRCh37]
Chr2:2q24.3 |
pathogenic |
| NM_001165963.4(SCN1A):c.5127C>A (p.Thr1709=) |
single nucleotide variant |
Early infantile epileptic encephalopathy with suppression bursts [RCV003753116]|not specified [RCV000428601] |
Chr2:165992148 [GRCh38]
Chr2:166848658 [GRCh37]
Chr2:2q24.3 |
likely benign |
| NM_001165963.4(SCN1A):c.3585T>C (p.Asn1195=) |
single nucleotide variant |
Early infantile epileptic encephalopathy with suppression bursts [RCV001451113]|not provided [RCV000734284]|not specified [RCV000431979] |
Chr2:166013864 [GRCh38]
Chr2:166870374 [GRCh37]
Chr2:2q24.3 |
likely benign|uncertain significance |
| NM_001165963.4(SCN1A):c.3525T>G (p.Leu1175=) |
single nucleotide variant |
Early infantile epileptic encephalopathy with suppression bursts [RCV001442108]|not specified [RCV000435561] |
Chr2:166015632 [GRCh38]
Chr2:166872142 [GRCh37]
Chr2:2q24.3 |
likely benign |
| NM_001165963.4(SCN1A):c.265-4A>G |
single nucleotide variant |
Early infantile epileptic encephalopathy with suppression bursts [RCV000636450]|Inborn genetic diseases [RCV002524798]|not specified [RCV000435574] |
Chr2:166058692 [GRCh38]
Chr2:166915202 [GRCh37]
Chr2:2q24.3 |
benign|likely benign |
| NM_001165963.4(SCN1A):c.3121A>G (p.Lys1041Glu) |
single nucleotide variant |
Early infantile epileptic encephalopathy with suppression bursts [RCV001851107]|not provided [RCV000439062] |
Chr2:166036356 [GRCh38]
Chr2:166892866 [GRCh37]
Chr2:2q24.3 |
uncertain significance |
| NM_001165963.4(SCN1A):c.4980C>T (p.Leu1660=) |
single nucleotide variant |
not specified [RCV000442740] |
Chr2:165992295 [GRCh38]
Chr2:166848805 [GRCh37]
Chr2:2q24.3 |
likely benign |
| NM_001165963.4(SCN1A):c.90A>G (p.Ala30=) |
single nucleotide variant |
Early infantile epileptic encephalopathy with suppression bursts [RCV001410971]|not provided [RCV000731561]|not specified [RCV000419108] |
Chr2:166073532 [GRCh38]
Chr2:166930042 [GRCh37]
Chr2:2q24.3 |
likely benign|uncertain significance |
| NM_001165963.4(SCN1A):c.3717T>C (p.Asp1239=) |
single nucleotide variant |
Early infantile epileptic encephalopathy with suppression bursts [RCV001444790]|Inborn genetic diseases [RCV002348172]|not provided [RCV001703609] |
Chr2:166012271 [GRCh38]
Chr2:166868781 [GRCh37]
Chr2:2q24.3 |
likely benign |
| NM_001165963.4(SCN1A):c.3480C>T (p.Gly1160=) |
single nucleotide variant |
Early infantile epileptic encephalopathy with suppression bursts [RCV001476330]|SCN1A-related condition [RCV003970173]|not provided [RCV000863738] |
Chr2:166015677 [GRCh38]
Chr2:166872187 [GRCh37]
Chr2:2q24.3 |
likely benign |
| NM_001165963.4(SCN1A):c.603-20G>A |
single nucleotide variant |
not specified [RCV000425161] |
Chr2:166052963 [GRCh38]
Chr2:166909473 [GRCh37]
Chr2:2q24.3 |
likely benign |
| NM_001165963.4(SCN1A):c.4338+12T>C |
single nucleotide variant |
Early infantile epileptic encephalopathy with suppression bursts [RCV002524799]|not specified [RCV000425230] |
Chr2:165999711 [GRCh38]
Chr2:166856221 [GRCh37]
Chr2:2q24.3 |
likely benign |
| NM_001165963.4(SCN1A):c.4476+6T>C |
single nucleotide variant |
not specified [RCV000435673] |
Chr2:165998032 [GRCh38]
Chr2:166854542 [GRCh37]
Chr2:2q24.3 |
likely benign |
| NM_001165963.4(SCN1A):c.4582-4A>C |
single nucleotide variant |
not specified [RCV000443058] |
Chr2:165994420 [GRCh38]
Chr2:166850930 [GRCh37]
Chr2:2q24.3 |
likely benign |
| NM_001165963.4(SCN1A):c.2947-9G>T |
single nucleotide variant |
not specified [RCV000419326] |
Chr2:166036539 [GRCh38]
Chr2:166893049 [GRCh37]
Chr2:2q24.3 |
likely benign |
| NM_001165963.4(SCN1A):c.4791T>C (p.His1597=) |
single nucleotide variant |
Early infantile epileptic encephalopathy with suppression bursts [RCV001484560]|Inborn genetic diseases [RCV002339067]|not provided [RCV001815328]|not specified [RCV000421937] |
Chr2:165994207 [GRCh38]
Chr2:166850717 [GRCh37]
Chr2:2q24.3 |
likely benign |
| NM_001165963.4(SCN1A):c.4521C>T (p.Tyr1507=) |
single nucleotide variant |
Early infantile epileptic encephalopathy with suppression bursts [RCV002061574]|not provided [RCV001703523] |
Chr2:165996073 [GRCh38]
Chr2:166852583 [GRCh37]
Chr2:2q24.3 |
likely benign |
| NM_001165963.4(SCN1A):c.3630G>A (p.Thr1210=) |
single nucleotide variant |
Early infantile epileptic encephalopathy with suppression bursts [RCV001494737]|not provided [RCV001718865] |
Chr2:166013819 [GRCh38]
Chr2:166870329 [GRCh37]
Chr2:2q24.3 |
likely benign |
| NM_001165963.4(SCN1A):c.3480C>A (p.Gly1160=) |
single nucleotide variant |
Early infantile epileptic encephalopathy with suppression bursts [RCV001459874]|not specified [RCV000429198] |
Chr2:166015677 [GRCh38]
Chr2:166872187 [GRCh37]
Chr2:2q24.3 |
likely benign |
| NM_001165963.4(SCN1A):c.1275C>A (p.Ala425=) |
single nucleotide variant |
not specified [RCV000436029] |
Chr2:166046872 [GRCh38]
Chr2:166903382 [GRCh37]
Chr2:2q24.3 |
likely benign |
| NM_001165963.4(SCN1A):c.3888G>A (p.Leu1296=) |
single nucleotide variant |
Early infantile epileptic encephalopathy with suppression bursts [RCV001462210]|not specified [RCV000436138] |
Chr2:166009833 [GRCh38]
Chr2:166866343 [GRCh37]
Chr2:2q24.3 |
likely benign |
| NM_001165963.4(SCN1A):c.2715C>T (p.Ala905=) |
single nucleotide variant |
Early infantile epileptic encephalopathy with suppression bursts [RCV001464797]|not provided [RCV003333984]|not specified [RCV000439793] |
Chr2:166038007 [GRCh38]
Chr2:166894517 [GRCh37]
Chr2:2q24.3 |
likely benign |
| NM_001165963.4(SCN1A):c.2819C>T (p.Ser940Phe) |
single nucleotide variant |
Early infantile epileptic encephalopathy with suppression bursts [RCV000794021]|not provided [RCV000428224] |
Chr2:166037903 [GRCh38]
Chr2:166894413 [GRCh37]
Chr2:2q24.3 |
pathogenic|likely pathogenic |
| NM_001165963.4(SCN1A):c.2044-20A>G |
single nucleotide variant |
Early infantile epileptic encephalopathy with suppression bursts [RCV002061501]|not specified [RCV000432857] |
Chr2:166042444 [GRCh38]
Chr2:166898954 [GRCh37]
Chr2:2q24.3 |
benign |
| NM_001165963.4(SCN1A):c.2554G>A (p.Val852Met) |
single nucleotide variant |
not provided [RCV000432882] |
Chr2:166039458 [GRCh38]
Chr2:166895968 [GRCh37]
Chr2:2q24.3 |
uncertain significance |
| NM_001165963.4(SCN1A):c.144C>A (p.Gly48=) |
single nucleotide variant |
Early infantile epileptic encephalopathy with suppression bursts [RCV002525412]|not specified [RCV000432957] |
Chr2:166073478 [GRCh38]
Chr2:166929988 [GRCh37]
Chr2:2q24.3 |
likely benign |
| NM_001165963.4(SCN1A):c.3105A>G (p.Gln1035=) |
single nucleotide variant |
not specified [RCV000443727] |
Chr2:166036372 [GRCh38]
Chr2:166892882 [GRCh37]
Chr2:2q24.3 |
likely benign |
| NM_001165963.4(SCN1A):c.3968C>A (p.Pro1323His) |
single nucleotide variant |
Early infantile epileptic encephalopathy with suppression bursts [RCV002525370]|Inborn genetic diseases [RCV002318436]|not provided [RCV000430833] |
Chr2:166009753 [GRCh38]
Chr2:166866263 [GRCh37]
Chr2:2q24.3 |
pathogenic|likely pathogenic |
| NM_001165963.4(SCN1A):c.861G>A (p.Leu287=) |
single nucleotide variant |
Early infantile epileptic encephalopathy with suppression bursts [RCV002521844]|not provided [RCV000443954] |
Chr2:166051822 [GRCh38]
Chr2:166908332 [GRCh37]
Chr2:2q24.3 |
likely benign |
| NM_001165963.4(SCN1A):c.72T>C (p.Ala24=) |
single nucleotide variant |
Early infantile epileptic encephalopathy with suppression bursts [RCV001487007]|Inborn genetic diseases [RCV002379330]|not specified [RCV000426461] |
Chr2:166073550 [GRCh38]
Chr2:166930060 [GRCh37]
Chr2:2q24.3 |
likely benign |
| NM_001165963.4(SCN1A):c.1005A>G (p.Leu335=) |
single nucleotide variant |
not specified [RCV000433334] |
Chr2:166048909 [GRCh38]
Chr2:166905419 [GRCh37]
Chr2:2q24.3 |
likely benign |
| NM_001165963.4(SCN1A):c.4339-5G>A |
single nucleotide variant |
Early infantile epileptic encephalopathy with suppression bursts [RCV003753117]|not provided [RCV000726683]|not specified [RCV000440412] |
Chr2:165998180 [GRCh38]
Chr2:166854690 [GRCh37]
Chr2:2q24.3 |
likely benign|conflicting interpretations of pathogenicity|uncertain significance |
| NM_001165963.4(SCN1A):c.993A>C (p.Leu331Phe) |
single nucleotide variant |
not provided [RCV000440481] |
Chr2:166048921 [GRCh38]
Chr2:166905431 [GRCh37]
Chr2:2q24.3 |
uncertain significance |
| NM_001165963.4(SCN1A):c.1663-3T>C |
single nucleotide variant |
Early infantile epileptic encephalopathy with suppression bursts [RCV001346078]|Inborn genetic diseases [RCV002402127]|not specified [RCV000423037] |
Chr2:166044052 [GRCh38]
Chr2:166900562 [GRCh37]
Chr2:2q24.3 |
benign|likely benign|uncertain significance |
| NM_001165963.4(SCN1A):c.2322C>A (p.Ile774=) |
single nucleotide variant |
Early infantile epileptic encephalopathy with suppression bursts [RCV001445343]|not specified [RCV000430215] |
Chr2:166041324 [GRCh38]
Chr2:166897834 [GRCh37]
Chr2:2q24.3 |
likely benign |
| NM_001165963.4(SCN1A):c.560G>A (p.Arg187Gln) |
single nucleotide variant |
Early infantile epileptic encephalopathy with suppression bursts [RCV001216763]|Generalized epilepsy with febrile seizures plus, type 2 [RCV001132516]|Migraine, familial hemiplegic, 3 [RCV001132515]|not provided [RCV001703810] |
Chr2:166054680 [GRCh38]
Chr2:166911190 [GRCh37]
Chr2:2q24.3 |
likely pathogenic|uncertain significance |
| NM_001165963.4(SCN1A):c.657A>T (p.Arg219Ser) |
single nucleotide variant |
not provided [RCV000437152] |
Chr2:166052889 [GRCh38]
Chr2:166909399 [GRCh37]
Chr2:2q24.3 |
likely pathogenic |
| NM_001165963.4(SCN1A):c.327C>G (p.Tyr109Ter) |
single nucleotide variant |
Febrile seizure (within the age range of 3 months to 6 years) [RCV000504593] |
Chr2:166058626 [GRCh38]
Chr2:166915136 [GRCh37]
Chr2:2q24.3 |
pathogenic |
| NM_001165963.4(SCN1A):c.2229C>G (p.Asn743Lys) |
single nucleotide variant |
not provided [RCV000423213] |
Chr2:166041417 [GRCh38]
Chr2:166897927 [GRCh37]
Chr2:2q24.3 |
uncertain significance |
| NM_001165963.4(SCN1A):c.965-21C>T |
single nucleotide variant |
not specified [RCV000430486] |
Chr2:166048970 [GRCh38]
Chr2:166905480 [GRCh37]
Chr2:2q24.3 |
benign |
| NM_001165963.4(SCN1A):c.965-20G>A |
single nucleotide variant |
Early infantile epileptic encephalopathy with suppression bursts [RCV002059679]|not specified [RCV000444574] |
Chr2:166048969 [GRCh38]
Chr2:166905479 [GRCh37]
Chr2:2q24.3 |
likely benign |
| NM_001165963.4(SCN1A):c.2946+5G>A |
single nucleotide variant |
Early infantile epileptic encephalopathy with suppression bursts [RCV002521550]|not provided [RCV000439519] |
Chr2:166037771 [GRCh38]
Chr2:166894281 [GRCh37]
Chr2:2q24.3 |
pathogenic|likely pathogenic |
| NM_001165963.4(SCN1A):c.4061G>C (p.Cys1354Ser) |
single nucleotide variant |
not provided [RCV000439959] |
Chr2:166002695 [GRCh38]
Chr2:166859205 [GRCh37]
Chr2:2q24.3 |
likely pathogenic |
| NM_001165963.4(SCN1A):c.1029-12C>T |
single nucleotide variant |
Early infantile epileptic encephalopathy with suppression bursts [RCV002061500]|SCN1A-related condition [RCV003950365]|not provided [RCV001718864] |
Chr2:166047780 [GRCh38]
Chr2:166904290 [GRCh37]
Chr2:2q24.3 |
benign|likely benign |
| NM_001165963.4(SCN1A):c.4632C>T (p.Asp1544=) |
single nucleotide variant |
Early infantile epileptic encephalopathy with suppression bursts [RCV001439060]|not specified [RCV000441235] |
Chr2:165994366 [GRCh38]
Chr2:166850876 [GRCh37]
Chr2:2q24.3 |
likely benign |
| NM_001165963.4(SCN1A):c.852T>C (p.Asn284=) |
single nucleotide variant |
Early infantile epileptic encephalopathy with suppression bursts [RCV002524895]|not provided [RCV000730295]|not specified [RCV000444725] |
Chr2:166051831 [GRCh38]
Chr2:166908341 [GRCh37]
Chr2:2q24.3 |
likely benign|uncertain significance |
| NM_001165963.4(SCN1A):c.5053G>T (p.Ala1685Ser) |
single nucleotide variant |
Early infantile epileptic encephalopathy with suppression bursts [RCV002522649]|not provided [RCV000441570] |
Chr2:165992222 [GRCh38]
Chr2:166848732 [GRCh37]
Chr2:2q24.3 |
likely pathogenic|conflicting interpretations of pathogenicity|uncertain significance |
| NM_001165963.4(SCN1A):c.3690dup (p.Ser1231Ter) |
duplication |
Severe myoclonic epilepsy in infancy [RCV000416955] |
Chr2:166013758..166013759 [GRCh38]
Chr2:166870268..166870269 [GRCh37]
Chr2:2q24.3 |
pathogenic |
| NM_001165963.4(SCN1A):c.1848G>C (p.Glu616Asp) |
single nucleotide variant |
Epileptic encephalopathy [RCV000417000] |
Chr2:166043864 [GRCh38]
Chr2:166900374 [GRCh37]
Chr2:2q24.3 |
pathogenic |
| NM_001165963.4(SCN1A):c.603-2A>G |
single nucleotide variant |
Early infantile epileptic encephalopathy with suppression bursts [RCV002524682]|Severe myoclonic epilepsy in infancy [RCV000417006] |
Chr2:166052945 [GRCh38]
Chr2:166909455 [GRCh37]
Chr2:2q24.3 |
pathogenic |
| NM_001165963.4(SCN1A):c.4820_4821del (p.Ile1606_Phe1607insTer) |
deletion |
Epileptic encephalopathy [RCV000416979] |
Chr2:165994177..165994178 [GRCh38]
Chr2:166850687..166850688 [GRCh37]
Chr2:2q24.3 |
pathogenic |
| NM_001165963.4(SCN1A):c.4814A>T (p.Asn1605Ile) |
single nucleotide variant |
Severe myoclonic epilepsy in infancy [RCV000417022] |
Chr2:165994184 [GRCh38]
Chr2:166850694 [GRCh37]
Chr2:2q24.3 |
likely pathogenic |
| NM_001165963.4(SCN1A):c.682T>C (p.Ser228Pro) |
single nucleotide variant |
Severe myoclonic epilepsy in infancy [RCV000416974] |
Chr2:166052864 [GRCh38]
Chr2:166909374 [GRCh37]
Chr2:2q24.3 |
likely pathogenic |
| NM_001165963.4(SCN1A):c.1377+3A>C |
single nucleotide variant |
Early infantile epileptic encephalopathy with suppression bursts [RCV000458937] |
Chr2:166046767 [GRCh38]
Chr2:166903277 [GRCh37]
Chr2:2q24.3 |
uncertain significance |
| NM_001165963.4(SCN1A):c.3953_3956del (p.Leu1318fs) |
deletion |
not provided [RCV000480815] |
Chr2:166009765..166009768 [GRCh38]
Chr2:166866275..166866278 [GRCh37]
Chr2:2q24.3 |
likely pathogenic |
| NM_001165963.4(SCN1A):c.4160del (p.Ile1387fs) |
deletion |
not provided [RCV000481049] |
Chr2:166002596 [GRCh38]
Chr2:166859106 [GRCh37]
Chr2:2q24.3 |
pathogenic |
| NM_001165963.4(SCN1A):c.5182_5198del (p.Gly1728fs) |
deletion |
Early infantile epileptic encephalopathy with suppression bursts [RCV003753121]|not provided [RCV000479323] |
Chr2:165992077..165992093 [GRCh38]
Chr2:166848587..166848603 [GRCh37]
Chr2:2q24.3 |
pathogenic |
| NM_001165963.4(SCN1A):c.3929_3970del (p.Gly1310_Leu1324delinsVal) |
deletion |
Early infantile epileptic encephalopathy with suppression bursts [RCV002525907]|not provided [RCV000487217] |
Chr2:166009751..166009792 [GRCh38]
Chr2:166866261..166866302 [GRCh37]
Chr2:2q24.3 |
pathogenic|likely pathogenic |
| NM_001165963.4(SCN1A):c.3448_3451del (p.Ser1150fs) |
deletion |
not provided [RCV000481280] |
Chr2:166015706..166015709 [GRCh38]
Chr2:166872216..166872219 [GRCh37]
Chr2:2q24.3 |
likely pathogenic |
| NM_001165963.4(SCN1A):c.5053G>C (p.Ala1685Pro) |
single nucleotide variant |
not provided [RCV000481441] |
Chr2:165992222 [GRCh38]
Chr2:166848732 [GRCh37]
Chr2:2q24.3 |
pathogenic|likely pathogenic |
| NM_001165963.4(SCN1A):c.312del (p.Thr105fs) |
deletion |
Early infantile epileptic encephalopathy with suppression bursts [RCV000467130] |
Chr2:166058641 [GRCh38]
Chr2:166915151 [GRCh37]
Chr2:2q24.3 |
pathogenic |
| NM_001165963.4(SCN1A):c.3752T>C (p.Met1251Thr) |
single nucleotide variant |
Early infantile epileptic encephalopathy with suppression bursts [RCV000474433]|not provided [RCV002222515] |
Chr2:166012236 [GRCh38]
Chr2:166868746 [GRCh37]
Chr2:2q24.3 |
likely benign|uncertain significance |
| NM_001165963.4(SCN1A):c.350T>C (p.Leu117Pro) |
single nucleotide variant |
Early infantile epileptic encephalopathy with suppression bursts [RCV001851250]|Generalized epilepsy with febrile seizures plus, type 2 [RCV001262228]|not provided [RCV000481610] |
Chr2:166058603 [GRCh38]
Chr2:166915113 [GRCh37]
Chr2:2q24.3 |
pathogenic|likely pathogenic |
| NM_001165963.4(SCN1A):c.509T>C (p.Leu170Pro) |
single nucleotide variant |
not provided [RCV000481626] |
Chr2:166054731 [GRCh38]
Chr2:166911241 [GRCh37]
Chr2:2q24.3 |
likely pathogenic |
| NM_001165963.4(SCN1A):c.4262G>A (p.Gly1421Glu) |
single nucleotide variant |
not provided [RCV000481871] |
Chr2:166002494 [GRCh38]
Chr2:166859004 [GRCh37]
Chr2:2q24.3 |
likely pathogenic |
| NM_001165963.4(SCN1A):c.5582G>A (p.Arg1861Gln) |
single nucleotide variant |
Early infantile epileptic encephalopathy with suppression bursts [RCV001043102]|Inborn genetic diseases [RCV002350068]|not provided [RCV000481884] |
Chr2:165991693 [GRCh38]
Chr2:166848203 [GRCh37]
Chr2:2q24.3 |
likely pathogenic|uncertain significance |
| NM_001165963.4(SCN1A):c.5851G>T (p.Ala1951Ser) |
single nucleotide variant |
Early infantile epileptic encephalopathy with suppression bursts [RCV001224688]|Migraine, familial hemiplegic, 3 [RCV002506178]|not provided [RCV000479848] |
Chr2:165991424 [GRCh38]
Chr2:166847934 [GRCh37]
Chr2:2q24.3 |
uncertain significance |
| NM_001165963.4(SCN1A):c.3165C>A (p.Asn1055Lys) |
single nucleotide variant |
Early infantile epileptic encephalopathy with suppression bursts [RCV000474614] |
Chr2:166036312 [GRCh38]
Chr2:166892822 [GRCh37]
Chr2:2q24.3 |
likely benign|uncertain significance |
| NM_001165963.4(SCN1A):c.1660C>T (p.Gln554Ter) |
single nucleotide variant |
not provided [RCV000482122] |
Chr2:166045045 [GRCh38]
Chr2:166901555 [GRCh37]
Chr2:2q24.3 |
likely pathogenic |
| NM_001165963.4(SCN1A):c.4096G>T (p.Val1366Leu) |
single nucleotide variant |
Early infantile epileptic encephalopathy with suppression bursts [RCV002525772]|not provided [RCV000482328] |
Chr2:166002660 [GRCh38]
Chr2:166859170 [GRCh37]
Chr2:2q24.3 |
likely pathogenic |
| NM_001165963.4(SCN1A):c.4972A>C (p.Thr1658Pro) |
single nucleotide variant |
Severe myoclonic epilepsy in infancy [RCV003221302]|not provided [RCV000482880] |
Chr2:165992303 [GRCh38]
Chr2:166848813 [GRCh37]
Chr2:2q24.3 |
likely pathogenic |
| NM_001165963.4(SCN1A):c.4991T>C (p.Met1664Thr) |
single nucleotide variant |
Early infantile epileptic encephalopathy with suppression bursts [RCV000460126] |
Chr2:165992284 [GRCh38]
Chr2:166848794 [GRCh37]
Chr2:2q24.3 |
likely pathogenic|uncertain significance |
| NM_001165963.4(SCN1A):c.4061G>T (p.Cys1354Phe) |
single nucleotide variant |
Early infantile epileptic encephalopathy with suppression bursts [RCV000474675] |
Chr2:166002695 [GRCh38]
Chr2:166859205 [GRCh37]
Chr2:2q24.3 |
pathogenic |
| NM_001165963.4(SCN1A):c.2897_2910del (p.Ala966fs) |
deletion |
not provided [RCV000483010] |
Chr2:166037812..166037825 [GRCh38]
Chr2:166894322..166894335 [GRCh37]
Chr2:2q24.3 |
likely pathogenic |
| NM_001165963.4(SCN1A):c.3938A>C (p.Lys1313Thr) |
single nucleotide variant |
not provided [RCV000483132] |
Chr2:166009783 [GRCh38]
Chr2:166866293 [GRCh37]
Chr2:2q24.3 |
likely pathogenic |
| NM_001165963.4(SCN1A):c.853G>T (p.Ala285Ser) |
single nucleotide variant |
Early infantile epileptic encephalopathy with suppression bursts [RCV000456703] |
Chr2:166051830 [GRCh38]
Chr2:166908340 [GRCh37]
Chr2:2q24.3 |
uncertain significance |
| NM_001165963.4(SCN1A):c.383+5C>G |
single nucleotide variant |
Early infantile epileptic encephalopathy with suppression bursts [RCV000468024] |
Chr2:166058565 [GRCh38]
Chr2:166915075 [GRCh37]
Chr2:2q24.3 |
likely pathogenic |
| NM_001165963.4(SCN1A):c.5318C>A (p.Ser1773Tyr) |
single nucleotide variant |
Early infantile epileptic encephalopathy with suppression bursts [RCV000471658] |
Chr2:165991957 [GRCh38]
Chr2:166848467 [GRCh37]
Chr2:2q24.3 |
pathogenic|likely pathogenic |
| NM_001165963.4(SCN1A):c.5778C>G (p.Tyr1926Ter) |
single nucleotide variant |
not provided [RCV000483721] |
Chr2:165991497 [GRCh38]
Chr2:166848007 [GRCh37]
Chr2:2q24.3 |
pathogenic |
| NM_001165963.4(SCN1A):c.5506G>T (p.Glu1836Ter) |
single nucleotide variant |
Early infantile epileptic encephalopathy with suppression bursts [RCV001232515]|not provided [RCV000483871] |
Chr2:165991769 [GRCh38]
Chr2:166848279 [GRCh37]
Chr2:2q24.3 |
pathogenic|likely pathogenic |
| NM_001165963.4(SCN1A):c.5787C>G (p.His1929Gln) |
single nucleotide variant |
Early infantile epileptic encephalopathy with suppression bursts [RCV000464386]|not provided [RCV003320649] |
Chr2:165991488 [GRCh38]
Chr2:166847998 [GRCh37]
Chr2:2q24.3 |
uncertain significance |
| NM_001165963.4(SCN1A):c.2783A>C (p.Gln928Pro) |
single nucleotide variant |
Early infantile epileptic encephalopathy with suppression bursts [RCV000468240] |
Chr2:166037939 [GRCh38]
Chr2:166894449 [GRCh37]
Chr2:2q24.3 |
uncertain significance |
| NM_001165963.4(SCN1A):c.3822T>G (p.Tyr1274Ter) |
single nucleotide variant |
Early infantile epileptic encephalopathy with suppression bursts [RCV000475845] |
Chr2:166012166 [GRCh38]
Chr2:166868676 [GRCh37]
Chr2:2q24.3 |
pathogenic |
| NM_001165963.4(SCN1A):c.2644A>T (p.Ile882Phe) |
single nucleotide variant |
not provided [RCV000484204] |
Chr2:166038078 [GRCh38]
Chr2:166894588 [GRCh37]
Chr2:2q24.3 |
likely pathogenic |
| NM_001165963.4(SCN1A):c.1835G>A (p.Arg612Gln) |
single nucleotide variant |
Early infantile epileptic encephalopathy with suppression bursts [RCV000461044] |
Chr2:166043877 [GRCh38]
Chr2:166900387 [GRCh37]
Chr2:2q24.3 |
likely benign|uncertain significance |
| NM_001165963.4(SCN1A):c.694+9A>G |
single nucleotide variant |
Early infantile epileptic encephalopathy with suppression bursts [RCV001493844]|not provided [RCV000472463]|not specified [RCV000614092] |
Chr2:166052843 [GRCh38]
Chr2:166909353 [GRCh37]
Chr2:2q24.3 |
likely benign |
| NM_001165963.4(SCN1A):c.1363C>T (p.Gln455Ter) |
single nucleotide variant |
not provided [RCV000485033] |
Chr2:166046784 [GRCh38]
Chr2:166903294 [GRCh37]
Chr2:2q24.3 |
likely pathogenic |
| NM_001165963.4(SCN1A):c.3377dup (p.Asn1126fs) |
duplication |
Early infantile epileptic encephalopathy with suppression bursts [RCV001865474]|not provided [RCV000485245] |
Chr2:166036099..166036100 [GRCh38]
Chr2:166892609..166892610 [GRCh37]
Chr2:2q24.3 |
pathogenic |
| NM_001165963.4(SCN1A):c.4267C>G (p.Leu1423Val) |
single nucleotide variant |
Early infantile epileptic encephalopathy with suppression bursts [RCV000472521] |
Chr2:166002489 [GRCh38]
Chr2:166858999 [GRCh37]
Chr2:2q24.3 |
pathogenic|likely pathogenic |
| NM_001165963.4(SCN1A):c.2334_2335insTTCCCCTTGTATT (p.Val779fs) |
insertion |
not provided [RCV000478021] |
Chr2:166041311..166041312 [GRCh38]
Chr2:166897821..166897822 [GRCh37]
Chr2:2q24.3 |
pathogenic |
| NM_001165963.4(SCN1A):c.1347del (p.Glu449fs) |
deletion |
not provided [RCV000478204] |
Chr2:166046800 [GRCh38]
Chr2:166903310 [GRCh37]
Chr2:2q24.3 |
pathogenic |
| NM_001165963.4(SCN1A):c.5492T>G (p.Phe1831Cys) |
single nucleotide variant |
not provided [RCV000478355] |
Chr2:165991783 [GRCh38]
Chr2:166848293 [GRCh37]
Chr2:2q24.3 |
pathogenic |
| NM_001165963.4(SCN1A):c.1344dup (p.Glu449Ter) |
duplication |
not provided [RCV000485300] |
Chr2:166046802..166046803 [GRCh38]
Chr2:166903312..166903313 [GRCh37]
Chr2:2q24.3 |
pathogenic |
| NM_001165963.4(SCN1A):c.637_650delinsCACA (p.Ser213fs) |
indel |
not provided [RCV000485303] |
Chr2:166052896..166052909 [GRCh38]
Chr2:166909406..166909419 [GRCh37]
Chr2:2q24.3 |
pathogenic |
| NM_001165963.4(SCN1A):c.4581+2T>A |
single nucleotide variant |
not provided [RCV000485310] |
Chr2:165996011 [GRCh38]
Chr2:166852521 [GRCh37]
Chr2:2q24.3 |
likely pathogenic |
| NM_001165963.4(SCN1A):c.4562del (p.Lys1521fs) |
deletion |
not provided [RCV000485464] |
Chr2:165996032 [GRCh38]
Chr2:166852542 [GRCh37]
Chr2:2q24.3 |
pathogenic |
| NM_001165963.4(SCN1A):c.1498C>T (p.Arg500Trp) |
single nucleotide variant |
Early infantile epileptic encephalopathy with suppression bursts [RCV003766659]|not provided [RCV000486171] |
Chr2:166045207 [GRCh38]
Chr2:166901717 [GRCh37]
Chr2:2q24.3 |
likely pathogenic|uncertain significance |
| NM_001165963.4(SCN1A):c.4236del (p.Lys1412_Val1413insTer) |
deletion |
Early infantile epileptic encephalopathy with suppression bursts [RCV000472741] |
Chr2:166002520 [GRCh38]
Chr2:166859030 [GRCh37]
Chr2:2q24.3 |
pathogenic |
| NM_001165963.4(SCN1A):c.755T>C (p.Ile252Thr) |
single nucleotide variant |
Early infantile epileptic encephalopathy with suppression bursts [RCV000476602] |
Chr2:166051928 [GRCh38]
Chr2:166908438 [GRCh37]
Chr2:2q24.3 |
pathogenic|likely pathogenic|uncertain significance |
| NM_001165963.4(SCN1A):c.5121T>G (p.Phe1707Leu) |
single nucleotide variant |
not provided [RCV000478480] |
Chr2:165992154 [GRCh38]
Chr2:166848664 [GRCh37]
Chr2:2q24.3 |
likely pathogenic |
| NM_001165963.4(SCN1A):c.278_279dup (p.Asn94Ter) |
duplication |
Early infantile epileptic encephalopathy with suppression bursts [RCV001063362]|not provided [RCV000478560] |
Chr2:166058673..166058674 [GRCh38]
Chr2:166915183..166915184 [GRCh37]
Chr2:2q24.3 |
pathogenic |
| NM_001165963.4(SCN1A):c.3800T>C (p.Met1267Thr) |
single nucleotide variant |
Developmental and epileptic encephalopathy 6B [RCV003338607]|not provided [RCV000478580] |
Chr2:166012188 [GRCh38]
Chr2:166868698 [GRCh37]
Chr2:2q24.3 |
likely pathogenic|uncertain significance |
| NM_001165963.4(SCN1A):c.2946+1_2946+2dup |
duplication |
not provided [RCV000486145] |
Chr2:166037773..166037774 [GRCh38]
Chr2:166894283..166894284 [GRCh37]
Chr2:2q24.3 |
pathogenic |
| NM_001165963.4(SCN1A):c.2577T>C (p.Arg859=) |
single nucleotide variant |
Early infantile epileptic encephalopathy with suppression bursts [RCV001475004]|not provided [RCV000458137] |
Chr2:166039435 [GRCh38]
Chr2:166895945 [GRCh37]
Chr2:2q24.3 |
likely benign |
| NM_001165963.4(SCN1A):c.3705+5G>A |
single nucleotide variant |
Early infantile epileptic encephalopathy with suppression bursts [RCV000461916]|Severe myoclonic epilepsy in infancy [RCV000986887] |
Chr2:166013739 [GRCh38]
Chr2:166870249 [GRCh37]
Chr2:2q24.3 |
pathogenic|likely pathogenic|uncertain significance |
| NM_001165963.4(SCN1A):c.2799C>A (p.His933Gln) |
single nucleotide variant |
not provided [RCV000479119] |
Chr2:166037923 [GRCh38]
Chr2:166894433 [GRCh37]
Chr2:2q24.3 |
likely pathogenic |
| NM_001165963.4(SCN1A):c.4412C>A (p.Ser1471Tyr) |
single nucleotide variant |
not provided [RCV000479185] |
Chr2:165998102 [GRCh38]
Chr2:166854612 [GRCh37]
Chr2:2q24.3 |
likely pathogenic |
| NM_001165963.4(SCN1A):c.2111dup (p.Glu705fs) |
duplication |
not provided [RCV000486464] |
Chr2:166042356..166042357 [GRCh38]
Chr2:166898866..166898867 [GRCh37]
Chr2:2q24.3 |
likely pathogenic |
| NM_001165963.4(SCN1A):c.3018T>G (p.Asp1006Glu) |
single nucleotide variant |
Early infantile epileptic encephalopathy with suppression bursts [RCV001315158]|not provided [RCV000522963] |
Chr2:166036459 [GRCh38]
Chr2:166892969 [GRCh37]
Chr2:2q24.3 |
uncertain significance |
| GRCh37/hg19 2p25.3-q37.3(chr2:12771-242783384) |
copy number gain |
See cases [RCV000512056] |
Chr2:12771..242783384 [GRCh37]
Chr2:2p25.3-q37.3 |
pathogenic |
| NM_001165963.4(SCN1A):c.5621G>A (p.Arg1874Gln) |
single nucleotide variant |
Early infantile epileptic encephalopathy with suppression bursts [RCV000469429]|not provided [RCV003318579] |
Chr2:165991654 [GRCh38]
Chr2:166848164 [GRCh37]
Chr2:2q24.3 |
likely pathogenic|likely benign|uncertain significance |
| NM_001165963.4(SCN1A):c.5571G>A (p.Val1857=) |
single nucleotide variant |
Early infantile epileptic encephalopathy with suppression bursts [RCV001516762]|not provided [RCV000473260] |
Chr2:165991704 [GRCh38]
Chr2:166848214 [GRCh37]
Chr2:2q24.3 |
benign |
| NM_001165963.4(SCN1A):c.5486del (p.Ser1829fs) |
deletion |
not provided [RCV000479294] |
Chr2:165991789 [GRCh38]
Chr2:166848299 [GRCh37]
Chr2:2q24.3 |
likely pathogenic |
| NM_001165963.4(SCN1A):c.5275C>T (p.Pro1759Ser) |
single nucleotide variant |
not provided [RCV000479372] |
Chr2:165992000 [GRCh38]
Chr2:166848510 [GRCh37]
Chr2:2q24.3 |
likely pathogenic |
| NM_001165963.4(SCN1A):c.2314del (p.Leu772fs) |
deletion |
not provided [RCV000479576] |
Chr2:166041332 [GRCh38]
Chr2:166897842 [GRCh37]
Chr2:2q24.3 |
likely pathogenic |
| NM_001165963.4(SCN1A):c.893_894del (p.Val298fs) |
microsatellite |
not provided [RCV000486831] |
Chr2:166051789..166051790 [GRCh38]
Chr2:166908299..166908300 [GRCh37]
Chr2:2q24.3 |
pathogenic |
| NM_001165963.4(SCN1A):c.473+5G>C |
single nucleotide variant |
not provided [RCV000486953] |
Chr2:166056406 [GRCh38]
Chr2:166912916 [GRCh37]
Chr2:2q24.3 |
likely pathogenic |
| NM_001165963.4(SCN1A):c.1230del (p.Ser411fs) |
deletion |
not provided [RCV000486955] |
Chr2:166046917 [GRCh38]
Chr2:166903427 [GRCh37]
Chr2:2q24.3 |
pathogenic |
| NM_001165963.4(SCN1A):c.2043+1G>A |
single nucleotide variant |
Autosomal dominant epilepsy [RCV003987560]|Severe myoclonic epilepsy in infancy [RCV002244954]|not provided [RCV000486990] |
Chr2:166043668 [GRCh38]
Chr2:166900178 [GRCh37]
Chr2:2q24.3 |
likely pathogenic |
| NM_001165963.4(SCN1A):c.4338+18dup |
duplication |
not specified [RCV000487093] |
Chr2:165999704..165999705 [GRCh38]
Chr2:166856214..166856215 [GRCh37]
Chr2:2q24.3 |
likely benign |
| NM_001165963.1(SCN1A):c.4853-110_4853-108delins129 |
indel |
Early infantile epileptic encephalopathy with suppression bursts [RCV000458520] |
Chr2:165992530..165992532 [GRCh38]
Chr2:166849040..166849042 [GRCh37]
Chr2:2q24.3 |
pathogenic|likely benign|uncertain significance |
| NM_001165963.4(SCN1A):c.926T>A (p.Val309Asp) |
single nucleotide variant |
Early infantile epileptic encephalopathy with suppression bursts [RCV000462342] |
Chr2:166051757 [GRCh38]
Chr2:166908267 [GRCh37]
Chr2:2q24.3 |
likely benign|uncertain significance |
| NM_001165963.4(SCN1A):c.3631dup (p.Cys1211fs) |
duplication |
Early infantile epileptic encephalopathy with suppression bursts [RCV000466170] |
Chr2:166013817..166013818 [GRCh38]
Chr2:166870327..166870328 [GRCh37]
Chr2:2q24.3 |
pathogenic |
| NM_001165963.4(SCN1A):c.4111G>C (p.Gly1371Arg) |
single nucleotide variant |
not provided [RCV000480007] |
Chr2:166002645 [GRCh38]
Chr2:166859155 [GRCh37]
Chr2:2q24.3 |
likely pathogenic |
| NM_001165963.4(SCN1A):c.2729A>G (p.Gln910Arg) |
single nucleotide variant |
Early infantile epileptic encephalopathy with suppression bursts [RCV000636316]|not provided [RCV000487225] |
Chr2:166037993 [GRCh38]
Chr2:166894503 [GRCh37]
Chr2:2q24.3 |
likely pathogenic|uncertain significance |
| NM_001165963.4(SCN1A):c.5765T>G (p.Ile1922Ser) |
single nucleotide variant |
Early infantile epileptic encephalopathy with suppression bursts [RCV000466422] |
Chr2:165991510 [GRCh38]
Chr2:166848020 [GRCh37]
Chr2:2q24.3 |
pathogenic|uncertain significance |
| NM_001165963.4(SCN1A):c.185_189dup (p.Ile64fs) |
duplication |
not provided [RCV000480508] |
Chr2:166073432..166073433 [GRCh38]
Chr2:166929942..166929943 [GRCh37]
Chr2:2q24.3 |
pathogenic |
| NM_001165963.4(SCN1A):c.1633T>C (p.Tyr545His) |
single nucleotide variant |
not provided [RCV000480519] |
Chr2:166045072 [GRCh38]
Chr2:166901582 [GRCh37]
Chr2:2q24.3 |
likely pathogenic |
| NM_001165963.4(SCN1A):c.731T>C (p.Val244Ala) |
single nucleotide variant |
not provided [RCV000498685] |
Chr2:166051952 [GRCh38]
Chr2:166908462 [GRCh37]
Chr2:2q24.3 |
likely pathogenic |
| NM_001165963.4(SCN1A):c.1151G>A (p.Trp384Ter) |
single nucleotide variant |
not provided [RCV000498723] |
Chr2:166047646 [GRCh38]
Chr2:166904156 [GRCh37]
Chr2:2q24.3 |
pathogenic |
| NM_001165963.4(SCN1A):c.632A>G (p.Asn211Ser) |
single nucleotide variant |
Early infantile epileptic encephalopathy with suppression bursts [RCV001857000]|not provided [RCV000498818] |
Chr2:166052914 [GRCh38]
Chr2:166909424 [GRCh37]
Chr2:2q24.3 |
likely pathogenic|uncertain significance |
| NM_001165963.4(SCN1A):c.4192A>T (p.Lys1398Ter) |
single nucleotide variant |
not provided [RCV000498858] |
Chr2:166002564 [GRCh38]
Chr2:166859074 [GRCh37]
Chr2:2q24.3 |
likely pathogenic |
| NM_001165963.4(SCN1A):c.2947-1G>A |
single nucleotide variant |
not provided [RCV000498906] |
Chr2:166036531 [GRCh38]
Chr2:166893041 [GRCh37]
Chr2:2q24.3 |
pathogenic|likely pathogenic |
| NM_001165963.4(SCN1A):c.3387G>A (p.Thr1129=) |
single nucleotide variant |
Early infantile epileptic encephalopathy with suppression bursts [RCV001037743]|Inborn genetic diseases [RCV002455972]|not provided [RCV000828537]|not specified [RCV000503636] |
Chr2:166036090 [GRCh38]
Chr2:166892600 [GRCh37]
Chr2:2q24.3 |
likely benign|uncertain significance |
| NM_001165963.4(SCN1A):c.5632G>C (p.Glu1878Gln) |
single nucleotide variant |
Early infantile epileptic encephalopathy with suppression bursts [RCV001066109]|SCN1A-related condition [RCV003409688]|not provided [RCV000766785]|not specified [RCV000497883] |
Chr2:165991643 [GRCh38]
Chr2:166848153 [GRCh37]
Chr2:2q24.3 |
uncertain significance |
| NM_001165963.4(SCN1A):c.4853-3dup |
duplication |
not provided [RCV003313091] |
Chr2:165992424..165992425 [GRCh38]
Chr2:166848934..166848935 [GRCh37]
Chr2:2q24.3 |
uncertain significance |
| NM_001165963.4(SCN1A):c.2815C>G (p.His939Asp) |
single nucleotide variant |
Seizure [RCV000504450] |
Chr2:166037907 [GRCh38]
Chr2:166894417 [GRCh37]
Chr2:2q24.3 |
likely pathogenic |
| NM_001165963.4(SCN1A):c.3723_3726del (p.Ile1240_Tyr1241insTer) |
deletion |
Seizure [RCV000502041] |
Chr2:166012262..166012265 [GRCh38]
Chr2:166868772..166868775 [GRCh37]
Chr2:2q24.3 |
pathogenic |
| NM_001165963.4(SCN1A):c.4532T>G (p.Met1511Arg) |
single nucleotide variant |
not provided [RCV000497641] |
Chr2:165996062 [GRCh38]
Chr2:166852572 [GRCh37]
Chr2:2q24.3 |
likely pathogenic |
| NM_001165963.4(SCN1A):c.4141del (p.Thr1381fs) |
deletion |
not provided [RCV000497741] |
Chr2:166002615 [GRCh38]
Chr2:166859125 [GRCh37]
Chr2:2q24.3 |
pathogenic |
| NM_001165963.4(SCN1A):c.3698G>A (p.Gly1233Asp) |
single nucleotide variant |
Early infantile epileptic encephalopathy with suppression bursts [RCV002527157]|not provided [RCV000513029] |
Chr2:166013751 [GRCh38]
Chr2:166870261 [GRCh37]
Chr2:2q24.3 |
pathogenic|likely pathogenic|conflicting interpretations of pathogenicity|uncertain significance |
| NM_001165963.4(SCN1A):c.366T>G (p.Ile122Met) |
single nucleotide variant |
not provided [RCV000497798] |
Chr2:166058587 [GRCh38]
Chr2:166915097 [GRCh37]
Chr2:2q24.3 |
likely pathogenic |
| NM_001165963.4(SCN1A):c.1027G>A (p.Gly343Ser) |
single nucleotide variant |
Early infantile epileptic encephalopathy with suppression bursts [RCV003588638]|not provided [RCV000497813] |
Chr2:166048887 [GRCh38]
Chr2:166905397 [GRCh37]
Chr2:2q24.3 |
likely pathogenic|uncertain significance |
| NM_001165963.4(SCN1A):c.695-2_697delinsCCACAA |
indel |
not provided [RCV000497940] |
Chr2:166051986..166051990 [GRCh38]
Chr2:166908496..166908500 [GRCh37]
Chr2:2q24.3 |
pathogenic |
| NM_001165963.4(SCN1A):c.5600T>C (p.Ile1867Thr) |
single nucleotide variant |
Early infantile epileptic encephalopathy with suppression bursts [RCV002527097]|not provided [RCV000493585] |
Chr2:165991675 [GRCh38]
Chr2:166848185 [GRCh37]
Chr2:2q24.3 |
pathogenic|likely pathogenic |
| GRCh37/hg19 2q24.3(chr2:166374955-169671203)x1 |
copy number loss |
See cases [RCV000511973] |
Chr2:166374955..169671203 [GRCh37]
Chr2:2q24.3 |
pathogenic |
| NM_001165963.4(SCN1A):c.1797G>T (p.Glu599Asp) |
single nucleotide variant |
not provided [RCV000493618] |
Chr2:166043915 [GRCh38]
Chr2:166900425 [GRCh37]
Chr2:2q24.3 |
uncertain significance |
| NM_001165963.4(SCN1A):c.2111T>C (p.Leu704Pro) |
single nucleotide variant |
Early infantile epileptic encephalopathy with suppression bursts [RCV000705457]|not provided [RCV000493647] |
Chr2:166042357 [GRCh38]
Chr2:166898867 [GRCh37]
Chr2:2q24.3 |
uncertain significance |
| NM_001165963.4(SCN1A):c.4060T>C (p.Cys1354Arg) |
single nucleotide variant |
not provided [RCV000493779] |
Chr2:166002696 [GRCh38]
Chr2:166859206 [GRCh37]
Chr2:2q24.3 |
likely pathogenic |
| NM_001165963.4(SCN1A):c.4630G>C (p.Asp1544His) |
single nucleotide variant |
not provided [RCV000493824] |
Chr2:165994368 [GRCh38]
Chr2:166850878 [GRCh37]
Chr2:2q24.3 |
likely pathogenic |
| NM_001165963.4(SCN1A):c.4979T>C (p.Leu1660Pro) |
single nucleotide variant |
Early infantile epileptic encephalopathy with suppression bursts [RCV001865550]|not provided [RCV000493826] |
Chr2:165992296 [GRCh38]
Chr2:166848806 [GRCh37]
Chr2:2q24.3 |
pathogenic|likely pathogenic |
| NM_001165963.4(SCN1A):c.4926G>T (p.Arg1642Ser) |
single nucleotide variant |
not provided [RCV000493827] |
Chr2:165992349 [GRCh38]
Chr2:166848859 [GRCh37]
Chr2:2q24.3 |
likely pathogenic |
| NM_001165963.4(SCN1A):c.4044G>C (p.Met1348Ile) |
single nucleotide variant |
not provided [RCV000493892] |
Chr2:166002712 [GRCh38]
Chr2:166859222 [GRCh37]
Chr2:2q24.3 |
likely pathogenic |
| NM_001165963.4(SCN1A):c.398T>A (p.Leu133Gln) |
single nucleotide variant |
not specified [RCV000493934] |
Chr2:166056486 [GRCh38]
Chr2:166912996 [GRCh37]
Chr2:2q24.3 |
uncertain significance |
| NM_001165963.4(SCN1A):c.5452del (p.Asp1818fs) |
deletion |
not provided [RCV000494226] |
Chr2:165991823 [GRCh38]
Chr2:166848333 [GRCh37]
Chr2:2q24.3 |
likely pathogenic |
| NM_001165963.4(SCN1A):c.596C>T (p.Thr199Ile) |
single nucleotide variant |
Early infantile epileptic encephalopathy with suppression bursts [RCV000796912]|not provided [RCV000494282] |
Chr2:166054644 [GRCh38]
Chr2:166911154 [GRCh37]
Chr2:2q24.3 |
likely pathogenic|uncertain significance |
| NM_001165963.4(SCN1A):c.3371_3372del (p.Asp1123_Phe1124insTer) |
deletion |
Early infantile epileptic encephalopathy with suppression bursts [RCV001037785]|not provided [RCV000494292] |
Chr2:166036105..166036106 [GRCh38]
Chr2:166892615..166892616 [GRCh37]
Chr2:2q24.3 |
pathogenic |
| NM_001165963.4(SCN1A):c.5000T>C (p.Leu1667Pro) |
single nucleotide variant |
Early infantile epileptic encephalopathy with suppression bursts [RCV002527098]|not provided [RCV000494294] |
Chr2:165992275 [GRCh38]
Chr2:166848785 [GRCh37]
Chr2:2q24.3 |
pathogenic|likely pathogenic |
| NM_001165963.4(SCN1A):c.5153T>C (p.Phe1718Ser) |
single nucleotide variant |
not provided [RCV000494447] |
Chr2:165992122 [GRCh38]
Chr2:166848632 [GRCh37]
Chr2:2q24.3 |
pathogenic |
| GRCh37/hg19 2q24.3(chr2:164366067-169069454)x1 |
copy number loss |
See cases [RCV000511424] |
Chr2:164366067..169069454 [GRCh37]
Chr2:2q24.3 |
pathogenic |
| NM_001165963.4(SCN1A):c.5483T>C (p.Leu1828Ser) |
single nucleotide variant |
not provided [RCV000492918] |
Chr2:165991792 [GRCh38]
Chr2:166848302 [GRCh37]
Chr2:2q24.3 |
likely pathogenic |
| NM_001165963.4(SCN1A):c.1087A>C (p.Thr363Pro) |
single nucleotide variant |
Early infantile epileptic encephalopathy with suppression bursts [RCV001390613]|not provided [RCV000492923] |
Chr2:166047710 [GRCh38]
Chr2:166904220 [GRCh37]
Chr2:2q24.3 |
pathogenic|likely pathogenic |
| NM_001165963.4(SCN1A):c.1662+2T>C |
single nucleotide variant |
not provided [RCV000492939] |
Chr2:166045041 [GRCh38]
Chr2:166901551 [GRCh37]
Chr2:2q24.3 |
pathogenic |
| NM_001165963.4(SCN1A):c.4304T>A (p.Met1435Lys) |
single nucleotide variant |
not provided [RCV000493007] |
Chr2:165999757 [GRCh38]
Chr2:166856267 [GRCh37]
Chr2:2q24.3 |
likely pathogenic |
| NM_001165963.4(SCN1A):c.4133A>C (p.Asn1378Thr) |
single nucleotide variant |
Early infantile epileptic encephalopathy with suppression bursts [RCV001851360]|not provided [RCV000493143] |
Chr2:166002623 [GRCh38]
Chr2:166859133 [GRCh37]
Chr2:2q24.3 |
pathogenic|likely pathogenic |
| NM_001165963.4(SCN1A):c.4363G>A (p.Glu1455Lys) |
single nucleotide variant |
Early infantile epileptic encephalopathy with suppression bursts [RCV002524036]|not provided [RCV000493229] |
Chr2:165998151 [GRCh38]
Chr2:166854661 [GRCh37]
Chr2:2q24.3 |
pathogenic|uncertain significance |
| NM_001165963.4(SCN1A):c.3046G>A (p.Val1016Met) |
single nucleotide variant |
Early infantile epileptic encephalopathy with suppression bursts [RCV001227551]|Generalized epilepsy with febrile seizures plus, type 2 [RCV001132321]|Migraine, familial hemiplegic, 3 [RCV001132320]|not provided [RCV000493354] |
Chr2:166036431 [GRCh38]
Chr2:166892941 [GRCh37]
Chr2:2q24.3 |
likely benign|uncertain significance |
| NM_001165963.4(SCN1A):c.5167T>C (p.Ser1723Pro) |
single nucleotide variant |
Early infantile epileptic encephalopathy with suppression bursts [RCV000554528] |
Chr2:165992108 [GRCh38]
Chr2:166848618 [GRCh37]
Chr2:2q24.3 |
pathogenic|likely pathogenic|uncertain significance |
| NM_001165963.4(SCN1A):c.2947-41C>T |
single nucleotide variant |
Migraine, familial hemiplegic, 3 [RCV000576463]|not provided [RCV001619799] |
Chr2:166036571 [GRCh38]
Chr2:166893081 [GRCh37]
Chr2:2q24.3 |
benign |
| NM_001165963.4(SCN1A):c.3618C>A (p.Asn1206Lys) |
single nucleotide variant |
Early infantile epileptic encephalopathy with suppression bursts [RCV002528292]|not provided [RCV000522892] |
Chr2:166013831 [GRCh38]
Chr2:166870341 [GRCh37]
Chr2:2q24.3 |
uncertain significance |
| GRCh37/hg19 2p25.3-q37.3(chr2:12771-242783384)x3 |
copy number gain |
See cases [RCV000511212] |
Chr2:12771..242783384 [GRCh37]
Chr2:2p25.3-q37.3 |
pathogenic |
| NM_001165963.4(SCN1A):c.4338+1G>T |
single nucleotide variant |
not provided [RCV000517633] |
Chr2:165999722 [GRCh38]
Chr2:166856232 [GRCh37]
Chr2:2q24.3 |
pathogenic |
| NM_001165963.4(SCN1A):c.302G>T (p.Arg101Leu) |
single nucleotide variant |
not provided [RCV000518488] |
Chr2:166058651 [GRCh38]
Chr2:166915161 [GRCh37]
Chr2:2q24.3 |
pathogenic |
| GRCh37/hg19 2q24.3(chr2:166032047-168283204)x1 |
copy number loss |
See cases [RCV000511103] |
Chr2:166032047..168283204 [GRCh37]
Chr2:2q24.3 |
pathogenic |
| NM_001165963.4(SCN1A):c.1343T>C (p.Ile448Thr) |
single nucleotide variant |
Early infantile epileptic encephalopathy with suppression bursts [RCV001855718]|Generalized epilepsy with febrile seizures plus, type 2 [RCV002287444]|Migraine, familial hemiplegic, 3 [RCV000768078]|Migraine, familial hemiplegic, 3 [RCV003224425]|not provided [RCV001568765] |
Chr2:166046804 [GRCh38]
Chr2:166903314 [GRCh37]
Chr2:2q24.3 |
uncertain significance |
| NM_001165963.4(SCN1A):c.5104G>A (p.Asp1702Asn) |
single nucleotide variant |
Early infantile epileptic encephalopathy with suppression bursts [RCV000636342] |
Chr2:165992171 [GRCh38]
Chr2:166848681 [GRCh37]
Chr2:2q24.3 |
likely benign|uncertain significance |
| NM_001165963.4(SCN1A):c.1795G>T (p.Glu599Ter) |
single nucleotide variant |
Early infantile epileptic encephalopathy with suppression bursts [RCV000636345] |
Chr2:166043917 [GRCh38]
Chr2:166900427 [GRCh37]
Chr2:2q24.3 |
pathogenic |
| NM_001165963.4(SCN1A):c.3886T>A (p.Leu1296Met) |
single nucleotide variant |
Early infantile epileptic encephalopathy with suppression bursts [RCV000636357]|SUDDEN INFANT DEATH SYNDROME [RCV001788307] |
Chr2:166009835 [GRCh38]
Chr2:166866345 [GRCh37]
Chr2:2q24.3 |
likely benign|uncertain significance |
| NM_001165963.4(SCN1A):c.949T>C (p.Tyr317His) |
single nucleotide variant |
Early infantile epileptic encephalopathy with suppression bursts [RCV000636370]|not provided [RCV001092951] |
Chr2:166051734 [GRCh38]
Chr2:166908244 [GRCh37]
Chr2:2q24.3 |
pathogenic|likely pathogenic|uncertain significance |
| NM_001165963.4(SCN1A):c.3G>A (p.Met1Ile) |
single nucleotide variant |
Early infantile epileptic encephalopathy with suppression bursts [RCV000636371] |
Chr2:166073619 [GRCh38]
Chr2:166930129 [GRCh37]
Chr2:2q24.3 |
pathogenic|likely pathogenic |
| NM_001165963.4(SCN1A):c.4375A>G (p.Met1459Val) |
single nucleotide variant |
Early infantile epileptic encephalopathy with suppression bursts [RCV000636373] |
Chr2:165998139 [GRCh38]
Chr2:166854649 [GRCh37]
Chr2:2q24.3 |
uncertain significance |
| NM_001165963.4(SCN1A):c.264+1G>C |
single nucleotide variant |
Early infantile epileptic encephalopathy with suppression bursts [RCV000636380] |
Chr2:166073357 [GRCh38]
Chr2:166929867 [GRCh37]
Chr2:2q24.3 |
likely pathogenic |
| NM_001165963.4(SCN1A):c.1296del (p.Thr433fs) |
deletion |
Early infantile epileptic encephalopathy with suppression bursts [RCV000636390] |
Chr2:166046851 [GRCh38]
Chr2:166903361 [GRCh37]
Chr2:2q24.3 |
pathogenic |
| NM_001165963.4(SCN1A):c.3215A>G (p.Asp1072Gly) |
single nucleotide variant |
Early infantile epileptic encephalopathy with suppression bursts [RCV000636435] |
Chr2:166036262 [GRCh38]
Chr2:166892772 [GRCh37]
Chr2:2q24.3 |
likely benign|uncertain significance |
| NM_001165963.4(SCN1A):c.2862G>T (p.Glu954Asp) |
single nucleotide variant |
Early infantile epileptic encephalopathy with suppression bursts [RCV000636437] |
Chr2:166037860 [GRCh38]
Chr2:166894370 [GRCh37]
Chr2:2q24.3 |
likely pathogenic|uncertain significance |
| NM_001165963.4(SCN1A):c.1842C>T (p.His614=) |
single nucleotide variant |
Early infantile epileptic encephalopathy with suppression bursts [RCV000636492]|not provided [RCV000997280] |
Chr2:166043870 [GRCh38]
Chr2:166900380 [GRCh37]
Chr2:2q24.3 |
likely benign |
| NM_001165963.4(SCN1A):c.5277A>C (p.Pro1759=) |
single nucleotide variant |
Early infantile epileptic encephalopathy with suppression bursts [RCV000636464]|Inborn genetic diseases [RCV002317388] |
Chr2:165991998 [GRCh38]
Chr2:166848508 [GRCh37]
Chr2:2q24.3 |
likely benign |
| NM_001165963.4(SCN1A):c.3879+9C>T |
single nucleotide variant |
Early infantile epileptic encephalopathy with suppression bursts [RCV000636515] |
Chr2:166012100 [GRCh38]
Chr2:166868610 [GRCh37]
Chr2:2q24.3 |
likely benign |
| NM_001165963.4(SCN1A):c.384-21T>A |
single nucleotide variant |
Early infantile epileptic encephalopathy with suppression bursts [RCV000636552]|Inborn genetic diseases [RCV002529852]|SCN1A-related condition [RCV003965334]|not provided [RCV001591418] |
Chr2:166056521 [GRCh38]
Chr2:166913031 [GRCh37]
Chr2:2q24.3 |
likely benign |
| NM_001165963.4(SCN1A):c.1029-4G>T |
single nucleotide variant |
Early infantile epileptic encephalopathy with suppression bursts [RCV000636508] |
Chr2:166047772 [GRCh38]
Chr2:166904282 [GRCh37]
Chr2:2q24.3 |
likely benign |
| NM_001165963.4(SCN1A):c.1803C>T (p.Asn601=) |
single nucleotide variant |
Early infantile epileptic encephalopathy with suppression bursts [RCV001400963]|Migraine, familial hemiplegic, 3 [RCV000768076]|Migraine, familial hemiplegic, 3 [RCV003224357]|not provided [RCV000828047] |
Chr2:166043909 [GRCh38]
Chr2:166900419 [GRCh37]
Chr2:2q24.3 |
likely benign|uncertain significance |
| NM_001165963.4(SCN1A):c.720G>C (p.Leu240=) |
single nucleotide variant |
Early infantile epileptic encephalopathy with suppression bursts [RCV000636621] |
Chr2:166051963 [GRCh38]
Chr2:166908473 [GRCh37]
Chr2:2q24.3 |
likely benign |
| NC_000002.12:g.(?_165090130)_(166228992_?)del |
deletion |
Early infantile epileptic encephalopathy with suppression bursts [RCV000636624]|Neuropathy, hereditary sensory and autonomic, type 2A [RCV001387895] |
Chr2:165090130..166228992 [GRCh38]
Chr2:165946640..167085502 [GRCh37]
Chr2:2q24.3 |
pathogenic |
| NM_001165963.4(SCN1A):c.3501C>T (p.Pro1167=) |
single nucleotide variant |
Early infantile epileptic encephalopathy with suppression bursts [RCV000556171] |
Chr2:166015656 [GRCh38]
Chr2:166872166 [GRCh37]
Chr2:2q24.3 |
likely benign |
| NM_001165963.4(SCN1A):c.2590-11T>A |
single nucleotide variant |
not specified [RCV000601501] |
Chr2:166038143 [GRCh38]
Chr2:166894653 [GRCh37]
Chr2:2q24.3 |
likely benign |
| NM_001165963.4(SCN1A):c.4209T>C (p.Asn1403=) |
single nucleotide variant |
Early infantile epileptic encephalopathy with suppression bursts [RCV001443078]|not provided [RCV000533868] |
Chr2:166002547 [GRCh38]
Chr2:166859057 [GRCh37]
Chr2:2q24.3 |
benign|likely benign |
| NM_001165963.4(SCN1A):c.4476+5G>T |
single nucleotide variant |
Generalized epilepsy with febrile seizures plus, type 2 [RCV000578331] |
Chr2:165998033 [GRCh38]
Chr2:166854543 [GRCh37]
Chr2:2q24.3 |
likely pathogenic |
| NM_001165963.4(SCN1A):c.2868G>A (p.Met956Ile) |
single nucleotide variant |
Early infantile epileptic encephalopathy with suppression bursts [RCV000535322] |
Chr2:166037854 [GRCh38]
Chr2:166894364 [GRCh37]
Chr2:2q24.3 |
likely pathogenic|uncertain significance |
| NM_001165963.4(SCN1A):c.338C>G (p.Pro113Arg) |
single nucleotide variant |
Severe myoclonic epilepsy in infancy [RCV000585829] |
Chr2:166058615 [GRCh38]
Chr2:166915125 [GRCh37]
Chr2:2q24.3 |
likely pathogenic |
| NM_001165963.4(SCN1A):c.1273del (p.Ala425fs) |
deletion |
Autosomal dominant epilepsy [RCV000590735]|Inborn genetic diseases [RCV002377216] |
Chr2:166046874 [GRCh38]
Chr2:166903384 [GRCh37]
Chr2:2q24.3 |
pathogenic|likely pathogenic |
| NM_001165963.4(SCN1A):c.964+11T>C |
single nucleotide variant |
Early infantile epileptic encephalopathy with suppression bursts [RCV002066733]|not specified [RCV000599919] |
Chr2:166051708 [GRCh38]
Chr2:166908218 [GRCh37]
Chr2:2q24.3 |
likely benign |
| NM_001165963.4(SCN1A):c.3292del (p.Asp1098fs) |
deletion |
Inborn genetic diseases [RCV000622550] |
Chr2:166036185 [GRCh38]
Chr2:166892695 [GRCh37]
Chr2:2q24.3 |
pathogenic |
| NM_001165963.4(SCN1A):c.2353A>T (p.Met785Leu) |
single nucleotide variant |
Early infantile epileptic encephalopathy with suppression bursts [RCV001248589]|Inborn genetic diseases [RCV000622760] |
Chr2:166041293 [GRCh38]
Chr2:166897803 [GRCh37]
Chr2:2q24.3 |
likely pathogenic|uncertain significance |
| NM_001165963.4(SCN1A):c.172_183del (p.Gly58_Leu61del) |
deletion |
Early infantile epileptic encephalopathy with suppression bursts [RCV000536922] |
Chr2:166073439..166073450 [GRCh38]
Chr2:166929949..166929960 [GRCh37]
Chr2:2q24.3 |
pathogenic|likely pathogenic|uncertain significance |
| NM_001165963.4(SCN1A):c.1958T>A (p.Leu653Ter) |
single nucleotide variant |
Early infantile epileptic encephalopathy with suppression bursts [RCV000636256] |
Chr2:166043754 [GRCh38]
Chr2:166900264 [GRCh37]
Chr2:2q24.3 |
pathogenic |
| NM_001165963.4(SCN1A):c.3997del (p.Gly1332_Met1333insTer) |
deletion |
Early infantile epileptic encephalopathy with suppression bursts [RCV000636269] |
Chr2:166009724 [GRCh38]
Chr2:166866234 [GRCh37]
Chr2:2q24.3 |
pathogenic |
| NM_001165963.4(SCN1A):c.135C>G (p.Asp45Glu) |
single nucleotide variant |
Early infantile epileptic encephalopathy with suppression bursts [RCV000636274] |
Chr2:166073487 [GRCh38]
Chr2:166929997 [GRCh37]
Chr2:2q24.3 |
likely benign|uncertain significance |
| NM_001165963.4(SCN1A):c.5813C>T (p.Ala1938Val) |
single nucleotide variant |
Early infantile epileptic encephalopathy with suppression bursts [RCV000636278]|Generalized epilepsy with febrile seizures plus, type 2 [RCV001706692]|Severe myoclonic epilepsy in infancy [RCV001089689] |
Chr2:165991462 [GRCh38]
Chr2:166847972 [GRCh37]
Chr2:2q24.3 |
likely pathogenic|likely benign|uncertain significance |
| NM_001165963.4(SCN1A):c.5171C>T (p.Ala1724Val) |
single nucleotide variant |
Early infantile epileptic encephalopathy with suppression bursts [RCV000636279] |
Chr2:165992104 [GRCh38]
Chr2:166848614 [GRCh37]
Chr2:2q24.3 |
pathogenic|uncertain significance |
| NM_001165963.4(SCN1A):c.3539G>T (p.Cys1180Phe) |
single nucleotide variant |
Early infantile epileptic encephalopathy with suppression bursts [RCV000636302] |
Chr2:166015618 [GRCh38]
Chr2:166872128 [GRCh37]
Chr2:2q24.3 |
uncertain significance |
| NM_001165963.4(SCN1A):c.5263G>T (p.Asp1755Tyr) |
single nucleotide variant |
Early infantile epileptic encephalopathy with suppression bursts [RCV000636304] |
Chr2:165992012 [GRCh38]
Chr2:166848522 [GRCh37]
Chr2:2q24.3 |
pathogenic|uncertain significance |
| NM_001165963.4(SCN1A):c.3671T>C (p.Ile1224Thr) |
single nucleotide variant |
Early infantile epileptic encephalopathy with suppression bursts [RCV000636319] |
Chr2:166013778 [GRCh38]
Chr2:166870288 [GRCh37]
Chr2:2q24.3 |
uncertain significance |
| NM_001165963.4(SCN1A):c.4174_4186del (p.Asn1392fs) |
deletion |
Early infantile epileptic encephalopathy with suppression bursts [RCV000636320] |
Chr2:166002570..166002582 [GRCh38]
Chr2:166859080..166859092 [GRCh37]
Chr2:2q24.3 |
pathogenic |
| NM_001165963.4(SCN1A):c.4333A>T (p.Arg1445Ter) |
single nucleotide variant |
Early infantile epileptic encephalopathy with suppression bursts [RCV000636325] |
Chr2:165999728 [GRCh38]
Chr2:166856238 [GRCh37]
Chr2:2q24.3 |
pathogenic |
| NM_001165963.4(SCN1A):c.4052T>C (p.Leu1351Pro) |
single nucleotide variant |
Early infantile epileptic encephalopathy with suppression bursts [RCV000636329]|not provided [RCV001091664] |
Chr2:166002704 [GRCh38]
Chr2:166859214 [GRCh37]
Chr2:2q24.3 |
likely pathogenic|uncertain significance |
| NM_001165963.4(SCN1A):c.4477-1C>T |
single nucleotide variant |
Early infantile epileptic encephalopathy with suppression bursts [RCV000636331]|Generalized epilepsy with febrile seizures plus, type 2 [RCV002510580] |
Chr2:165996118 [GRCh38]
Chr2:166852628 [GRCh37]
Chr2:2q24.3 |
pathogenic|likely pathogenic |
| NM_001165963.4(SCN1A):c.1278C>G (p.Tyr426Ter) |
single nucleotide variant |
Early infantile epileptic encephalopathy with suppression bursts [RCV000636340] |
Chr2:166046869 [GRCh38]
Chr2:166903379 [GRCh37]
Chr2:2q24.3 |
pathogenic |
| NM_001165963.4(SCN1A):c.4582-4A>G |
single nucleotide variant |
not specified [RCV000603154] |
Chr2:165994420 [GRCh38]
Chr2:166850930 [GRCh37]
Chr2:2q24.3 |
likely benign |
| NM_001165963.4(SCN1A):c.3741G>A (p.Thr1247=) |
single nucleotide variant |
Early infantile epileptic encephalopathy with suppression bursts [RCV001470959]|SCN1A-related condition [RCV003892382]|not specified [RCV000602450] |
Chr2:166012247 [GRCh38]
Chr2:166868757 [GRCh37]
Chr2:2q24.3 |
likely benign |
| NM_001165963.4(SCN1A):c.2094C>T (p.His698=) |
single nucleotide variant |
Early infantile epileptic encephalopathy with suppression bursts [RCV001414331]|not provided [RCV001726261]|not specified [RCV000602452] |
Chr2:166042374 [GRCh38]
Chr2:166898884 [GRCh37]
Chr2:2q24.3 |
likely benign |
| NM_001165963.4(SCN1A):c.1028+5G>C |
single nucleotide variant |
Seizure [RCV000626773]|not provided [RCV001815354] |
Chr2:166048881 [GRCh38]
Chr2:166905391 [GRCh37]
Chr2:2q24.3 |
uncertain significance |
| NM_001165963.4(SCN1A):c.346C>T (p.Pro116Ser) |
single nucleotide variant |
Inborn genetic diseases [RCV003262403] |
Chr2:166058607 [GRCh38]
Chr2:166915117 [GRCh37]
Chr2:2q24.3 |
uncertain significance |
| NM_001165963.4(SCN1A):c.559C>T (p.Arg187Trp) |
single nucleotide variant |
Early infantile epileptic encephalopathy with suppression bursts [RCV001070318]|not provided [RCV000524084] |
Chr2:166054681 [GRCh38]
Chr2:166911191 [GRCh37]
Chr2:2q24.3 |
uncertain significance |
| NM_001165963.4(SCN1A):c.1707T>C (p.Asn569=) |
single nucleotide variant |
not specified [RCV000605461] |
Chr2:166044005 [GRCh38]
Chr2:166900515 [GRCh37]
Chr2:2q24.3 |
likely benign |
| NM_001165963.4(SCN1A):c.5379T>A (p.Thr1793=) |
single nucleotide variant |
not specified [RCV000615746] |
Chr2:165991896 [GRCh38]
Chr2:166848406 [GRCh37]
Chr2:2q24.3 |
likely benign |
| NM_001165963.4(SCN1A):c.812del (p.Gly271fs) |
deletion |
Inborn genetic diseases [RCV000624888] |
Chr2:166051871 [GRCh38]
Chr2:166908381 [GRCh37]
Chr2:2q24.3 |
pathogenic |
| NM_001165963.4(SCN1A):c.2947-20A>C |
single nucleotide variant |
Early infantile epileptic encephalopathy with suppression bursts [RCV002066800]|not specified [RCV000609918] |
Chr2:166036550 [GRCh38]
Chr2:166893060 [GRCh37]
Chr2:2q24.3 |
likely benign |
| NM_001165963.4(SCN1A):c.2043+9G>A |
single nucleotide variant |
Early infantile epileptic encephalopathy with suppression bursts [RCV002528664]|not specified [RCV000609984] |
Chr2:166043660 [GRCh38]
Chr2:166900170 [GRCh37]
Chr2:2q24.3 |
likely benign |
| NM_001165963.4(SCN1A):c.2590C>T (p.Leu864=) |
single nucleotide variant |
Early infantile epileptic encephalopathy with suppression bursts [RCV000636607]|Inborn genetic diseases [RCV002431767]|not specified [RCV000615892] |
Chr2:166038132 [GRCh38]
Chr2:166894642 [GRCh37]
Chr2:2q24.3 |
likely benign|uncertain significance |
| NM_001165963.4(SCN1A):c.3638G>A (p.Arg1213Gln) |
single nucleotide variant |
Early infantile epileptic encephalopathy with suppression bursts [RCV001401866]|not provided [RCV002066773]|not specified [RCV000600699] |
Chr2:166013811 [GRCh38]
Chr2:166870321 [GRCh37]
Chr2:2q24.3 |
likely benign |
| NM_001165963.4(SCN1A):c.3576T>C (p.Cys1192=) |
single nucleotide variant |
Early infantile epileptic encephalopathy with suppression bursts [RCV002063929]|not provided [RCV001697861] |
Chr2:166013873 [GRCh38]
Chr2:166870383 [GRCh37]
Chr2:2q24.3 |
likely benign |
| NM_001165963.4(SCN1A):c.2020_2023del (p.Asp674fs) |
deletion |
Severe myoclonic epilepsy in infancy [RCV000585813] |
Chr2:166043689..166043692 [GRCh38]
Chr2:166900199..166900202 [GRCh37]
Chr2:2q24.3 |
likely pathogenic |
| NM_001165963.4(SCN1A):c.2728C>T (p.Gln910Ter) |
single nucleotide variant |
Severe myoclonic epilepsy in infancy [RCV000585857] |
Chr2:166037994 [GRCh38]
Chr2:166894504 [GRCh37]
Chr2:2q24.3 |
likely pathogenic |
| NM_001165963.4(SCN1A):c.558T>C (p.Leu186=) |
single nucleotide variant |
Early infantile epileptic encephalopathy with suppression bursts [RCV001520006]|SCN1A-related condition [RCV003980143]|not provided [RCV001722646] |
Chr2:166054682 [GRCh38]
Chr2:166911192 [GRCh37]
Chr2:2q24.3 |
benign|likely benign |
| NM_001165963.4(SCN1A):c.1177del (p.Arg393fs) |
deletion |
not provided [RCV000596868] |
Chr2:166046970 [GRCh38]
Chr2:166903480 [GRCh37]
Chr2:2q24.3 |
pathogenic |
| NM_001165963.4(SCN1A):c.695-18T>C |
single nucleotide variant |
Early infantile epileptic encephalopathy with suppression bursts [RCV002066503]|not specified [RCV000607502] |
Chr2:166052006 [GRCh38]
Chr2:166908516 [GRCh37]
Chr2:2q24.3 |
likely benign |
| NM_001165963.4(SCN1A):c.1538A>G (p.Glu513Gly) |
single nucleotide variant |
Early infantile epileptic encephalopathy with suppression bursts [RCV000560873] |
Chr2:166045167 [GRCh38]
Chr2:166901677 [GRCh37]
Chr2:2q24.3 |
uncertain significance |
| NM_001165963.4(SCN1A):c.2973T>C (p.Leu991=) |
single nucleotide variant |
not specified [RCV000607976] |
Chr2:166036504 [GRCh38]
Chr2:166893014 [GRCh37]
Chr2:2q24.3 |
likely benign |
| NM_001165963.4(SCN1A):c.678G>A (p.Thr226=) |
single nucleotide variant |
Early infantile epileptic encephalopathy with suppression bursts [RCV001399178]|not provided [RCV001722651] |
Chr2:166052868 [GRCh38]
Chr2:166909378 [GRCh37]
Chr2:2q24.3 |
likely benign |
| NM_001165963.4(SCN1A):c.2350_2351del (p.Phe784fs) |
deletion |
Early infantile epileptic encephalopathy with suppression bursts [RCV000538577]|Severe myoclonic epilepsy in infancy [RCV000986898] |
Chr2:166041295..166041296 [GRCh38]
Chr2:166897805..166897806 [GRCh37]
Chr2:2q24.3 |
pathogenic|likely pathogenic |
| NM_001165963.4(SCN1A):c.1710C>T (p.Ser570=) |
single nucleotide variant |
Early infantile epileptic encephalopathy with suppression bursts [RCV000636553]|not provided [RCV001697493] |
Chr2:166044002 [GRCh38]
Chr2:166900512 [GRCh37]
Chr2:2q24.3 |
likely benign |
| NM_001165963.4(SCN1A):c.3111C>A (p.Ser1037=) |
single nucleotide variant |
Early infantile epileptic encephalopathy with suppression bursts [RCV002064296]|not specified [RCV000616959] |
Chr2:166036366 [GRCh38]
Chr2:166892876 [GRCh37]
Chr2:2q24.3 |
likely benign |
| NM_001165963.4(SCN1A):c.3431_3432del (p.Lys1144fs) |
deletion |
Early infantile epileptic encephalopathy with suppression bursts [RCV000539067] |
Chr2:166015725..166015726 [GRCh38]
Chr2:166872235..166872236 [GRCh37]
Chr2:2q24.3 |
pathogenic |
| NM_001165963.4(SCN1A):c.4284+19C>A |
single nucleotide variant |
Early infantile epileptic encephalopathy with suppression bursts [RCV003753145]|not specified [RCV000608417] |
Chr2:166002453 [GRCh38]
Chr2:166858963 [GRCh37]
Chr2:2q24.3 |
likely benign |
| NM_001165963.4(SCN1A):c.695-10T>C |
single nucleotide variant |
not specified [RCV000611191] |
Chr2:166051998 [GRCh38]
Chr2:166908508 [GRCh37]
Chr2:2q24.3 |
likely benign |
| NM_001165963.4(SCN1A):c.2522C>G (p.Thr841Arg) |
single nucleotide variant |
Early infantile epileptic encephalopathy with suppression bursts [RCV000539521] |
Chr2:166039490 [GRCh38]
Chr2:166896000 [GRCh37]
Chr2:2q24.3 |
pathogenic|uncertain significance |
| NM_001165963.4(SCN1A):c.606C>T (p.Tyr202=) |
single nucleotide variant |
Early infantile epileptic encephalopathy with suppression bursts [RCV001481810]|Generalized epilepsy with febrile seizures plus, type 2 [RCV001129826]|Migraine, familial hemiplegic, 3 [RCV001129825]|not provided [RCV000992882]|not specified [RCV000611417] |
Chr2:166052940 [GRCh38]
Chr2:166909450 [GRCh37]
Chr2:2q24.3 |
likely benign|uncertain significance |
| NM_001165963.4(SCN1A):c.3246T>C (p.Thr1082=) |
single nucleotide variant |
Early infantile epileptic encephalopathy with suppression bursts [RCV001415434]|not specified [RCV000611428] |
Chr2:166036231 [GRCh38]
Chr2:166892741 [GRCh37]
Chr2:2q24.3 |
likely benign |
| NM_001165963.4(SCN1A):c.602+7G>A |
single nucleotide variant |
not specified [RCV000609039] |
Chr2:166054631 [GRCh38]
Chr2:166911141 [GRCh37]
Chr2:2q24.3 |
likely benign |
| GRCh37/hg19 2q12.1-24.3(chr2:104172062-168223828)x1 |
copy number loss |
Poly (ADP-Ribose) polymerase inhibitor response [RCV000626436] |
Chr2:104172062..168223828 [GRCh37]
Chr2:2q12.1-24.3 |
drug response |
| NM_001165963.4(SCN1A):c.4870C>T (p.Leu1624=) |
single nucleotide variant |
not specified [RCV000609137] |
Chr2:165992405 [GRCh38]
Chr2:166848915 [GRCh37]
Chr2:2q24.3 |
likely benign |
| NM_001165963.4(SCN1A):c.3655T>A (p.Trp1219Arg) |
single nucleotide variant |
Early infantile epileptic encephalopathy with suppression bursts [RCV000540121] |
Chr2:166013794 [GRCh38]
Chr2:166870304 [GRCh37]
Chr2:2q24.3 |
uncertain significance |
| NM_001165963.4(SCN1A):c.1911G>A (p.Ala637=) |
single nucleotide variant |
Early infantile epileptic encephalopathy with suppression bursts [RCV001407736]|not specified [RCV000612016] |
Chr2:166043801 [GRCh38]
Chr2:166900311 [GRCh37]
Chr2:2q24.3 |
likely benign |
| GRCh37/hg19 2q24.1-24.3(chr2:157970774-169270675)x1 |
copy number loss |
See cases [RCV000512264] |
Chr2:157970774..169270675 [GRCh37]
Chr2:2q24.1-24.3 |
pathogenic |
| NM_001165963.4(SCN1A):c.383+7T>C |
single nucleotide variant |
Early infantile epileptic encephalopathy with suppression bursts [RCV002062825]|not specified [RCV000604345] |
Chr2:166058563 [GRCh38]
Chr2:166915073 [GRCh37]
Chr2:2q24.3 |
likely benign |
| NM_001165963.4(SCN1A):c.1080T>C (p.Tyr360=) |
single nucleotide variant |
Early infantile epileptic encephalopathy with suppression bursts [RCV001463458]|not provided [RCV001697561] |
Chr2:166047717 [GRCh38]
Chr2:166904227 [GRCh37]
Chr2:2q24.3 |
likely benign |
| NM_001165963.4(SCN1A):c.2T>C (p.Met1Thr) |
single nucleotide variant |
Early infantile epileptic encephalopathy with suppression bursts [RCV000524577]|not provided [RCV000579160] |
Chr2:166073620 [GRCh38]
Chr2:166930130 [GRCh37]
Chr2:2q24.3 |
pathogenic|likely pathogenic |
| NM_001165963.4(SCN1A):c.695-11C>T |
single nucleotide variant |
not specified [RCV000603749] |
Chr2:166051999 [GRCh38]
Chr2:166908509 [GRCh37]
Chr2:2q24.3 |
likely benign |
| NM_001165963.4(SCN1A):c.1753G>C (p.Gly585Arg) |
single nucleotide variant |
Early infantile epileptic encephalopathy with suppression bursts [RCV000636257]|Generalized epilepsy with febrile seizures plus, type 2 [RCV001133332]|Migraine, familial hemiplegic, 3 [RCV001133333]|not provided [RCV001562231] |
Chr2:166043959 [GRCh38]
Chr2:166900469 [GRCh37]
Chr2:2q24.3 |
uncertain significance |
| NM_001165963.4(SCN1A):c.5597A>G (p.Asp1866Gly) |
single nucleotide variant |
Early infantile epileptic encephalopathy with suppression bursts [RCV000636288] |
Chr2:165991678 [GRCh38]
Chr2:166848188 [GRCh37]
Chr2:2q24.3 |
likely pathogenic |
| NM_001165963.4(SCN1A):c.752T>G (p.Met251Arg) |
single nucleotide variant |
Early infantile epileptic encephalopathy with suppression bursts [RCV000636289] |
Chr2:166051931 [GRCh38]
Chr2:166908441 [GRCh37]
Chr2:2q24.3 |
likely pathogenic|uncertain significance |
| NM_001165963.4(SCN1A):c.4451A>C (p.Asp1484Ala) |
single nucleotide variant |
Early infantile epileptic encephalopathy with suppression bursts [RCV000636338] |
Chr2:165998063 [GRCh38]
Chr2:166854573 [GRCh37]
Chr2:2q24.3 |
uncertain significance |
| NM_001165963.4(SCN1A):c.397C>G (p.Leu133Val) |
single nucleotide variant |
Early infantile epileptic encephalopathy with suppression bursts [RCV001396226] |
Chr2:166056487 [GRCh38]
Chr2:166912997 [GRCh37]
Chr2:2q24.3 |
likely benign|uncertain significance |
| NM_001165963.4(SCN1A):c.1584_1588del (p.Ser528fs) |
deletion |
Early infantile epileptic encephalopathy with suppression bursts [RCV000636344] |
Chr2:166045117..166045121 [GRCh38]
Chr2:166901627..166901631 [GRCh37]
Chr2:2q24.3 |
pathogenic |
| NM_001165963.4(SCN1A):c.1178G>C (p.Arg393Pro) |
single nucleotide variant |
Early infantile epileptic encephalopathy with suppression bursts [RCV000636355] |
Chr2:166046969 [GRCh38]
Chr2:166903479 [GRCh37]
Chr2:2q24.3 |
pathogenic |
| NM_001165963.4(SCN1A):c.5269G>C (p.Gly1757Arg) |
single nucleotide variant |
Early infantile epileptic encephalopathy with suppression bursts [RCV000636358] |
Chr2:165992006 [GRCh38]
Chr2:166848516 [GRCh37]
Chr2:2q24.3 |
pathogenic |
| NM_001165963.4(SCN1A):c.264_264+5delinsTGCC |
indel |
Early infantile epileptic encephalopathy with suppression bursts [RCV000636364] |
Chr2:166073353..166073358 [GRCh38]
Chr2:166929863..166929868 [GRCh37]
Chr2:2q24.3 |
pathogenic|likely pathogenic |
| NM_001165963.4(SCN1A):c.4036T>C (p.Ser1346Pro) |
single nucleotide variant |
Early infantile epileptic encephalopathy with suppression bursts [RCV000636368]|Epileptic encephalopathy [RCV001731191]|Generalized epilepsy with febrile seizures plus, type 2 [RCV001333849]|not provided [RCV003488746] |
Chr2:166002720 [GRCh38]
Chr2:166859230 [GRCh37]
Chr2:2q24.3 |
likely pathogenic|uncertain significance |
| NM_001165963.4(SCN1A):c.5932T>A (p.Ser1978Thr) |
single nucleotide variant |
Early infantile epileptic encephalopathy with suppression bursts [RCV000636369] |
Chr2:165991343 [GRCh38]
Chr2:166847853 [GRCh37]
Chr2:2q24.3 |
uncertain significance |
| NM_001165963.4(SCN1A):c.214_216dup (p.Met72dup) |
duplication |
Early infantile epileptic encephalopathy with suppression bursts [RCV000636377] |
Chr2:166073405..166073406 [GRCh38]
Chr2:166929915..166929916 [GRCh37]
Chr2:2q24.3 |
likely pathogenic |
| NM_001165963.4(SCN1A):c.1648TCC[1] (p.Ser551del) |
microsatellite |
Early infantile epileptic encephalopathy with suppression bursts [RCV000636379] |
Chr2:166045052..166045054 [GRCh38]
Chr2:166901562..166901564 [GRCh37]
Chr2:2q24.3 |
uncertain significance |
| NM_001165963.4(SCN1A):c.4179T>A (p.His1393Gln) |
single nucleotide variant |
Early infantile epileptic encephalopathy with suppression bursts [RCV000636381] |
Chr2:166002577 [GRCh38]
Chr2:166859087 [GRCh37]
Chr2:2q24.3 |
uncertain significance |
| NM_001165963.4(SCN1A):c.4102T>G (p.Leu1368Val) |
single nucleotide variant |
Early infantile epileptic encephalopathy with suppression bursts [RCV000636385] |
Chr2:166002654 [GRCh38]
Chr2:166859164 [GRCh37]
Chr2:2q24.3 |
uncertain significance |
| NM_001165963.4(SCN1A):c.5754del (p.Ala1919fs) |
deletion |
Early infantile epileptic encephalopathy with suppression bursts [RCV000636388] |
Chr2:165991521 [GRCh38]
Chr2:166848031 [GRCh37]
Chr2:2q24.3 |
pathogenic |
| NM_001165963.4(SCN1A):c.1435C>A (p.Leu479Ile) |
single nucleotide variant |
Early infantile epileptic encephalopathy with suppression bursts [RCV001424674] |
Chr2:166045270 [GRCh38]
Chr2:166901780 [GRCh37]
Chr2:2q24.3 |
likely benign|uncertain significance |
| NM_001165963.4(SCN1A):c.4900C>G (p.Leu1634Val) |
single nucleotide variant |
Early infantile epileptic encephalopathy with suppression bursts [RCV000636395] |
Chr2:165992375 [GRCh38]
Chr2:166848885 [GRCh37]
Chr2:2q24.3 |
uncertain significance |
| NM_001165963.4(SCN1A):c.4453A>G (p.Asn1485Asp) |
single nucleotide variant |
Early infantile epileptic encephalopathy with suppression bursts [RCV000636398] |
Chr2:165998061 [GRCh38]
Chr2:166854571 [GRCh37]
Chr2:2q24.3 |
pathogenic|likely pathogenic |
| NM_001165963.4(SCN1A):c.4964G>C (p.Gly1655Ala) |
single nucleotide variant |
Early infantile epileptic encephalopathy with suppression bursts [RCV000636401] |
Chr2:165992311 [GRCh38]
Chr2:166848821 [GRCh37]
Chr2:2q24.3 |
likely pathogenic|uncertain significance |
| NM_001165963.4(SCN1A):c.265-3C>G |
single nucleotide variant |
Early infantile epileptic encephalopathy with suppression bursts [RCV000636421] |
Chr2:166058691 [GRCh38]
Chr2:166915201 [GRCh37]
Chr2:2q24.3 |
likely pathogenic|uncertain significance |
| NM_001165963.4(SCN1A):c.1936G>A (p.Asp646Asn) |
single nucleotide variant |
Early infantile epileptic encephalopathy with suppression bursts [RCV000636423] |
Chr2:166043776 [GRCh38]
Chr2:166900286 [GRCh37]
Chr2:2q24.3 |
uncertain significance |
| NM_001165963.4(SCN1A):c.5719ACT[2] (p.Thr1909del) |
microsatellite |
Early infantile epileptic encephalopathy with suppression bursts [RCV000636425]|not provided [RCV003126887] |
Chr2:165991548..165991550 [GRCh38]
Chr2:166848058..166848060 [GRCh37]
Chr2:2q24.3 |
pathogenic|likely pathogenic |
| NM_001165963.4(SCN1A):c.4284+1G>T |
single nucleotide variant |
Early infantile epileptic encephalopathy with suppression bursts [RCV000636436] |
Chr2:166002471 [GRCh38]
Chr2:166858981 [GRCh37]
Chr2:2q24.3 |
pathogenic |
| NM_001165963.4(SCN1A):c.4161C>T (p.Ile1387=) |
single nucleotide variant |
Early infantile epileptic encephalopathy with suppression bursts [RCV000636475]|Inborn genetic diseases [RCV002331142] |
Chr2:166002595 [GRCh38]
Chr2:166859105 [GRCh37]
Chr2:2q24.3 |
likely benign |
| NM_001165963.4(SCN1A):c.4906del (p.Arg1636fs) |
deletion |
not provided [RCV000512652] |
Chr2:165992369 [GRCh38]
Chr2:166848879 [GRCh37]
Chr2:2q24.3 |
likely pathogenic |
| NM_001165963.4(SCN1A):c.3926T>G (p.Leu1309Arg) |
single nucleotide variant |
not provided [RCV000512678] |
Chr2:166009795 [GRCh38]
Chr2:166866305 [GRCh37]
Chr2:2q24.3 |
likely pathogenic |
| NM_001165963.4(SCN1A):c.816C>T (p.Asn272=) |
single nucleotide variant |
Early infantile epileptic encephalopathy with suppression bursts [RCV000636617] |
Chr2:166051867 [GRCh38]
Chr2:166908377 [GRCh37]
Chr2:2q24.3 |
likely benign |
| NM_001165963.4(SCN1A):c.667G>C (p.Ala223Pro) |
single nucleotide variant |
not provided [RCV000512832] |
Chr2:166052879 [GRCh38]
Chr2:166909389 [GRCh37]
Chr2:2q24.3 |
likely pathogenic |
| NM_001165963.4(SCN1A):c.493T>C (p.Tyr165His) |
single nucleotide variant |
Early infantile epileptic encephalopathy with suppression bursts [RCV001853962]|Severe myoclonic epilepsy in infancy [RCV000585806] |
Chr2:166054747 [GRCh38]
Chr2:166911257 [GRCh37]
Chr2:2q24.3 |
pathogenic|likely pathogenic |
| NM_001165963.4(SCN1A):c.4389T>C (p.Phe1463=) |
single nucleotide variant |
not provided [RCV000513134] |
Chr2:165998125 [GRCh38]
Chr2:166854635 [GRCh37]
Chr2:2q24.3 |
likely benign|uncertain significance |
| NM_001165963.4(SCN1A):c.1091G>T (p.Ser364Ile) |
single nucleotide variant |
not provided [RCV000597440] |
Chr2:166047706 [GRCh38]
Chr2:166904216 [GRCh37]
Chr2:2q24.3 |
conflicting interpretations of pathogenicity|uncertain significance |
| NM_001165963.4(SCN1A):c.2156T>A (p.Ile719Asn) |
single nucleotide variant |
Early infantile epileptic encephalopathy with suppression bursts [RCV001371494]|not provided [RCV000585282] |
Chr2:166042312 [GRCh38]
Chr2:166898822 [GRCh37]
Chr2:2q24.3 |
uncertain significance |
| NM_001165963.4(SCN1A):c.5214A>T (p.Pro1738=) |
single nucleotide variant |
not provided [RCV000513328] |
Chr2:165992061 [GRCh38]
Chr2:166848571 [GRCh37]
Chr2:2q24.3 |
uncertain significance |
| NM_001165963.4(SCN1A):c.5615del (p.Thr1872fs) |
deletion |
not provided [RCV000585326] |
Chr2:165991660 [GRCh38]
Chr2:166848170 [GRCh37]
Chr2:2q24.3 |
likely pathogenic |
| GRCh37/hg19 2q24.3-31.1(chr2:165173620-169779326)x1 |
copy number loss |
not provided [RCV000585557] |
Chr2:165173620..169779326 [GRCh37]
Chr2:2q24.3-31.1 |
likely pathogenic |
| NM_001165963.4(SCN1A):c.2122T>C (p.Ser708Pro) |
single nucleotide variant |
not provided [RCV000585611] |
Chr2:166042346 [GRCh38]
Chr2:166898856 [GRCh37]
Chr2:2q24.3 |
uncertain significance |
| NM_001165963.4(SCN1A):c.3426A>G (p.Lys1142=) |
single nucleotide variant |
not specified [RCV000585996] |
Chr2:166036051 [GRCh38]
Chr2:166892561 [GRCh37]
Chr2:2q24.3 |
likely benign|uncertain significance |
| NM_001165963.4(SCN1A):c.4341G>A (p.Val1447=) |
single nucleotide variant |
not provided [RCV000513352] |
Chr2:165998173 [GRCh38]
Chr2:166854683 [GRCh37]
Chr2:2q24.3 |
uncertain significance |
| NM_001165963.4(SCN1A):c.749T>A (p.Val250Glu) |
single nucleotide variant |
not provided [RCV000513507] |
Chr2:166051934 [GRCh38]
Chr2:166908444 [GRCh37]
Chr2:2q24.3 |
likely pathogenic |
| NM_001165963.4(SCN1A):c.841C>A (p.Pro281Thr) |
single nucleotide variant |
Inborn genetic diseases [RCV000623125] |
Chr2:166051842 [GRCh38]
Chr2:166908352 [GRCh37]
Chr2:2q24.3 |
likely pathogenic |
| NM_001165963.4(SCN1A):c.3530C>G (p.Pro1177Arg) |
single nucleotide variant |
Generalized epilepsy with febrile seizures plus, type 2 [RCV001543134]|Inborn genetic diseases [RCV000624256]|not provided [RCV002510935] |
Chr2:166015627 [GRCh38]
Chr2:166872137 [GRCh37]
Chr2:2q24.3 |
pathogenic|likely pathogenic|uncertain significance |
| NM_001165963.4(SCN1A):c.2979_2992del (p.Ser993fs) |
deletion |
not provided [RCV000627568] |
Chr2:166036485..166036498 [GRCh38]
Chr2:166892995..166893008 [GRCh37]
Chr2:2q24.3 |
likely pathogenic |
| NM_001165963.4(SCN1A):c.5386del (p.Ser1796fs) |
deletion |
not provided [RCV000627577] |
Chr2:165991889 [GRCh38]
Chr2:166848399 [GRCh37]
Chr2:2q24.3 |
pathogenic |
| NM_001165963.4(SCN1A):c.4216G>A (p.Ala1406Thr) |
single nucleotide variant |
Early infantile epileptic encephalopathy with suppression bursts [RCV000699236] |
Chr2:166002540 [GRCh38]
Chr2:166859050 [GRCh37]
Chr2:2q24.3 |
pathogenic|uncertain significance |
| NM_001165963.4(SCN1A):c.3224A>G (p.Tyr1075Cys) |
single nucleotide variant |
Early infantile epileptic encephalopathy with suppression bursts [RCV001486218]|not provided [RCV003432743] |
Chr2:166036253 [GRCh38]
Chr2:166892763 [GRCh37]
Chr2:2q24.3 |
likely benign|uncertain significance |
| NM_001165963.4(SCN1A):c.3128A>T (p.Lys1043Met) |
single nucleotide variant |
not provided [RCV000658203] |
Chr2:166036349 [GRCh38]
Chr2:166892859 [GRCh37]
Chr2:2q24.3 |
uncertain significance |
| NM_001165963.4(SCN1A):c.643T>C (p.Leu215=) |
single nucleotide variant |
Early infantile epileptic encephalopathy with suppression bursts [RCV002534301]|not provided [RCV000658885] |
Chr2:166052903 [GRCh38]
Chr2:166909413 [GRCh37]
Chr2:2q24.3 |
likely benign |
| NM_001165963.4(SCN1A):c.5018_5019delinsAG (p.Ile1673Lys) |
indel |
not provided [RCV000658442] |
Chr2:165992256..165992257 [GRCh38]
Chr2:166848766..166848767 [GRCh37]
Chr2:2q24.3 |
likely pathogenic |
| NM_001165963.4(SCN1A):c.5436G>C (p.Trp1812Cys) |
single nucleotide variant |
not provided [RCV000658882] |
Chr2:165991839 [GRCh38]
Chr2:166848349 [GRCh37]
Chr2:2q24.3 |
likely pathogenic|uncertain significance |
| NM_001165963.4(SCN1A):c.4651A>T (p.Ile1551Phe) |
single nucleotide variant |
Early infantile epileptic encephalopathy with suppression bursts [RCV002536319]|not provided [RCV000657975] |
Chr2:165994347 [GRCh38]
Chr2:166850857 [GRCh37]
Chr2:2q24.3 |
uncertain significance |
| NM_001165963.4(SCN1A):c.4859T>C (p.Phe1620Ser) |
single nucleotide variant |
not provided [RCV000658883] |
Chr2:165992416 [GRCh38]
Chr2:166848926 [GRCh37]
Chr2:2q24.3 |
likely pathogenic |
| NM_001165963.4(SCN1A):c.5657G>A (p.Arg1886Gln) |
single nucleotide variant |
Early infantile epileptic encephalopathy with suppression bursts [RCV000685637]|not provided [RCV001541571]|not specified [RCV003323683] |
Chr2:165991618 [GRCh38]
Chr2:166848128 [GRCh37]
Chr2:2q24.3 |
likely pathogenic|uncertain significance |
| NM_001165963.4(SCN1A):c.5222G>C (p.Cys1741Ser) |
single nucleotide variant |
Early infantile epileptic encephalopathy with suppression bursts [RCV000700259] |
Chr2:165992053 [GRCh38]
Chr2:166848563 [GRCh37]
Chr2:2q24.3 |
pathogenic |
| NM_001165963.4(SCN1A):c.717C>A (p.Ala239=) |
single nucleotide variant |
Early infantile epileptic encephalopathy with suppression bursts [RCV001414812]|not provided [RCV000658884] |
Chr2:166051966 [GRCh38]
Chr2:166908476 [GRCh37]
Chr2:2q24.3 |
likely benign|conflicting interpretations of pathogenicity|uncertain significance |
| NM_001165963.4(SCN1A):c.3152T>C (p.Leu1051Pro) |
single nucleotide variant |
Early infantile epileptic encephalopathy with suppression bursts [RCV001862022]|Inborn genetic diseases [RCV002316150] |
Chr2:166036325 [GRCh38]
Chr2:166892835 [GRCh37]
Chr2:2q24.3 |
likely benign|uncertain significance |
| NM_001165963.4(SCN1A):c.132C>T (p.Asp44=) |
single nucleotide variant |
Early infantile epileptic encephalopathy with suppression bursts [RCV001411229]|Inborn genetic diseases [RCV002314549] |
Chr2:166073490 [GRCh38]
Chr2:166930000 [GRCh37]
Chr2:2q24.3 |
likely benign |
| NM_001165963.4(SCN1A):c.1876A>T (p.Ser626Cys) |
single nucleotide variant |
Inborn genetic diseases [RCV002314381] |
Chr2:166043836 [GRCh38]
Chr2:166900346 [GRCh37]
Chr2:2q24.3 |
uncertain significance |
| NM_001165963.4(SCN1A):c.1663-2A>G |
single nucleotide variant |
Early infantile epileptic encephalopathy with suppression bursts [RCV001862025]|Inborn genetic diseases [RCV002314384] |
Chr2:166044051 [GRCh38]
Chr2:166900561 [GRCh37]
Chr2:2q24.3 |
likely pathogenic |
| GRCh37/hg19 2q24.3(chr2:166395880-167016281)x3 |
copy number gain |
not provided [RCV000682093] |
Chr2:166395880..167016281 [GRCh37]
Chr2:2q24.3 |
uncertain significance |
| NM_001165963.4(SCN1A):c.2178A>T (p.Glu726Asp) |
single nucleotide variant |
not provided [RCV001760496] |
Chr2:166041468 [GRCh38]
Chr2:166897978 [GRCh37]
Chr2:2q24.3 |
uncertain significance |
| NM_001165963.4(SCN1A):c.652T>C (p.Phe218Leu) |
single nucleotide variant |
Early infantile epileptic encephalopathy with suppression bursts [RCV001862014]|Inborn genetic diseases [RCV002312318]|not provided [RCV001567210] |
Chr2:166052894 [GRCh38]
Chr2:166909404 [GRCh37]
Chr2:2q24.3 |
pathogenic|likely pathogenic |
| NM_001165963.4(SCN1A):c.3644T>A (p.Val1215Asp) |
single nucleotide variant |
Early infantile epileptic encephalopathy with suppression bursts [RCV000698903] |
Chr2:166013805 [GRCh38]
Chr2:166870315 [GRCh37]
Chr2:2q24.3 |
uncertain significance |
| NM_001165963.4(SCN1A):c.2268del (p.Lys756_Val757insTer) |
deletion |
Early infantile epileptic encephalopathy with suppression bursts [RCV000685692] |
Chr2:166041378 [GRCh38]
Chr2:166897888 [GRCh37]
Chr2:2q24.3 |
pathogenic |
| NM_001165963.4(SCN1A):c.4057G>T (p.Val1353Phe) |
single nucleotide variant |
Early infantile epileptic encephalopathy with suppression bursts [RCV000700817]|SCN1A-related condition [RCV003411633] |
Chr2:166002699 [GRCh38]
Chr2:166859209 [GRCh37]
Chr2:2q24.3 |
pathogenic|uncertain significance |
| NM_001165963.4(SCN1A):c.1819T>A (p.Ser607Thr) |
single nucleotide variant |
Early infantile epileptic encephalopathy with suppression bursts [RCV000701305]|not provided [RCV001538136] |
Chr2:166043893 [GRCh38]
Chr2:166900403 [GRCh37]
Chr2:2q24.3 |
uncertain significance |
| NM_001165963.4(SCN1A):c.3623G>A (p.Arg1208Lys) |
single nucleotide variant |
Early infantile epileptic encephalopathy with suppression bursts [RCV001861862]|not provided [RCV003222098]|pharmacoresistant multifocal epilepsy [RCV000678839] |
Chr2:166013826 [GRCh38]
Chr2:166870336 [GRCh37]
Chr2:2q24.3 |
uncertain significance |
| NM_001165963.4(SCN1A):c.3851G>A (p.Trp1284Ter) |
single nucleotide variant |
Early infantile epileptic encephalopathy with suppression bursts [RCV001868296]|Primary generalized epilepsy [RCV000678840] |
Chr2:166012137 [GRCh38]
Chr2:166868647 [GRCh37]
Chr2:2q24.3 |
pathogenic|likely pathogenic |
| NM_001165963.4(SCN1A):c.1889G>C (p.Arg630Pro) |
single nucleotide variant |
Early infantile epileptic encephalopathy with suppression bursts [RCV001301463]|myoclonic epilepsy [RCV000678838] |
Chr2:166043823 [GRCh38]
Chr2:166900333 [GRCh37]
Chr2:2q24.3 |
uncertain significance |
| NM_001165963.4(SCN1A):c.3783C>G (p.Tyr1261Ter) |
single nucleotide variant |
Early infantile epileptic encephalopathy with suppression bursts [RCV000687317] |
Chr2:166012205 [GRCh38]
Chr2:166868715 [GRCh37]
Chr2:2q24.3 |
pathogenic |
| NM_001165963.4(SCN1A):c.311C>A (p.Ala104Asp) |
single nucleotide variant |
Early infantile epileptic encephalopathy with suppression bursts [RCV000687341]|Severe myoclonic epilepsy in infancy [RCV002283507] |
Chr2:166058642 [GRCh38]
Chr2:166915152 [GRCh37]
Chr2:2q24.3 |
pathogenic|uncertain significance |
| NM_001165963.4(SCN1A):c.5495_5496insT (p.Ala1833fs) |
insertion |
Early infantile epileptic encephalopathy with suppression bursts [RCV000687680] |
Chr2:165991779..165991780 [GRCh38]
Chr2:166848289..166848290 [GRCh37]
Chr2:2q24.3 |
pathogenic |
| NM_001165963.4(SCN1A):c.3943C>T (p.Leu1315Phe) |
single nucleotide variant |
Early infantile epileptic encephalopathy with suppression bursts [RCV000702257] |
Chr2:166009778 [GRCh38]
Chr2:166866288 [GRCh37]
Chr2:2q24.3 |
uncertain significance |
| NM_001165963.4(SCN1A):c.3705+1G>T |
single nucleotide variant |
Early infantile epileptic encephalopathy with suppression bursts [RCV000702514] |
Chr2:166013743 [GRCh38]
Chr2:166870253 [GRCh37]
Chr2:2q24.3 |
pathogenic |
| NM_001165963.4(SCN1A):c.1738dup (p.Arg580fs) |
duplication |
Early infantile epileptic encephalopathy with suppression bursts [RCV000688538] |
Chr2:166043973..166043974 [GRCh38]
Chr2:166900483..166900484 [GRCh37]
Chr2:2q24.3 |
pathogenic |
| NM_001165963.4(SCN1A):c.2559A>C (p.Glu853Asp) |
single nucleotide variant |
Early infantile epileptic encephalopathy with suppression bursts [RCV000685800] |
Chr2:166039453 [GRCh38]
Chr2:166895963 [GRCh37]
Chr2:2q24.3 |
uncertain significance |
| NM_001165963.4(SCN1A):c.1850_1851dup (p.Arg618fs) |
microsatellite |
Early infantile epileptic encephalopathy with suppression bursts [RCV000699993] |
Chr2:166043860..166043861 [GRCh38]
Chr2:166900370..166900371 [GRCh37]
Chr2:2q24.3 |
pathogenic |
| NM_001165963.4(SCN1A):c.3454T>A (p.Ser1152Thr) |
single nucleotide variant |
Early infantile epileptic encephalopathy with suppression bursts [RCV000686810]|Generalized epilepsy with febrile seizures plus, type 2 [RCV003126903]|not provided [RCV001766467] |
Chr2:166015703 [GRCh38]
Chr2:166872213 [GRCh37]
Chr2:2q24.3 |
uncertain significance |
| NM_001165963.4(SCN1A):c.4783C>A (p.Leu1595Ile) |
single nucleotide variant |
Early infantile epileptic encephalopathy with suppression bursts [RCV000689911]|not provided [RCV002263933] |
Chr2:165994215 [GRCh38]
Chr2:166850725 [GRCh37]
Chr2:2q24.3 |
likely pathogenic|uncertain significance |
| NM_001165963.4(SCN1A):c.379C>T (p.His127Tyr) |
single nucleotide variant |
Early infantile epileptic encephalopathy with suppression bursts [RCV000706754]|Generalized epilepsy with febrile seizures plus, type 2 [RCV002249425] |
Chr2:166058574 [GRCh38]
Chr2:166915084 [GRCh37]
Chr2:2q24.3 |
pathogenic|likely pathogenic |
| NM_001165963.4(SCN1A):c.3989T>C (p.Phe1330Ser) |
single nucleotide variant |
Early infantile epileptic encephalopathy with suppression bursts [RCV000692909] |
Chr2:166009732 [GRCh38]
Chr2:166866242 [GRCh37]
Chr2:2q24.3 |
uncertain significance |
| NM_001165963.4(SCN1A):c.3752T>G (p.Met1251Arg) |
single nucleotide variant |
Early infantile epileptic encephalopathy with suppression bursts [RCV000704402]|not specified [RCV003323695] |
Chr2:166012236 [GRCh38]
Chr2:166868746 [GRCh37]
Chr2:2q24.3 |
likely pathogenic|uncertain significance |
| NM_001165963.4(SCN1A):c.3880-1G>T |
single nucleotide variant |
Early infantile epileptic encephalopathy with suppression bursts [RCV000704404] |
Chr2:166009842 [GRCh38]
Chr2:166866352 [GRCh37]
Chr2:2q24.3 |
pathogenic |
| NM_001165963.4(SCN1A):c.5145C>G (p.Ile1715Met) |
single nucleotide variant |
Early infantile epileptic encephalopathy with suppression bursts [RCV000707014] |
Chr2:165992130 [GRCh38]
Chr2:166848640 [GRCh37]
Chr2:2q24.3 |
uncertain significance |
| NM_001165963.4(SCN1A):c.4003-11_4036del |
deletion |
Early infantile epileptic encephalopathy with suppression bursts [RCV000702114] |
Chr2:166002720..166002764 [GRCh38]
Chr2:166859230..166859274 [GRCh37]
Chr2:2q24.3 |
pathogenic |
| NM_001165963.4(SCN1A):c.942G>C (p.Trp314Cys) |
single nucleotide variant |
Early infantile epileptic encephalopathy with suppression bursts [RCV000693359] |
Chr2:166051741 [GRCh38]
Chr2:166908251 [GRCh37]
Chr2:2q24.3 |
likely pathogenic |
| NM_001165963.4(SCN1A):c.3971dup (p.Arg1325fs) |
duplication |
Early infantile epileptic encephalopathy with suppression bursts [RCV000690701] |
Chr2:166009749..166009750 [GRCh38]
Chr2:166866259..166866260 [GRCh37]
Chr2:2q24.3 |
pathogenic |
| NM_001165963.4(SCN1A):c.1700G>A (p.Arg567Lys) |
single nucleotide variant |
Early infantile epileptic encephalopathy with suppression bursts [RCV000707586] |
Chr2:166044012 [GRCh38]
Chr2:166900522 [GRCh37]
Chr2:2q24.3 |
uncertain significance |
| NM_001165963.4(SCN1A):c.833T>C (p.Ile278Thr) |
single nucleotide variant |
Early infantile epileptic encephalopathy with suppression bursts [RCV000688016] |
Chr2:166051850 [GRCh38]
Chr2:166908360 [GRCh37]
Chr2:2q24.3 |
uncertain significance |
| NM_001165963.4(SCN1A):c.4002+2T>C |
single nucleotide variant |
Early infantile epileptic encephalopathy with suppression bursts [RCV000688127] |
Chr2:166009717 [GRCh38]
Chr2:166866227 [GRCh37]
Chr2:2q24.3 |
pathogenic |
| NM_001165963.4(SCN1A):c.2066T>C (p.Met689Thr) |
single nucleotide variant |
Early infantile epileptic encephalopathy with suppression bursts [RCV000688315] |
Chr2:166042402 [GRCh38]
Chr2:166898912 [GRCh37]
Chr2:2q24.3 |
uncertain significance |
| NM_001165963.4(SCN1A):c.2948T>A (p.Val983Asp) |
single nucleotide variant |
Early infantile epileptic encephalopathy with suppression bursts [RCV000688318] |
Chr2:166036529 [GRCh38]
Chr2:166893039 [GRCh37]
Chr2:2q24.3 |
pathogenic|uncertain significance |
| NM_001165963.4(SCN1A):c.2354T>G (p.Met785Arg) |
single nucleotide variant |
Early infantile epileptic encephalopathy with suppression bursts [RCV000705575] |
Chr2:166041292 [GRCh38]
Chr2:166897802 [GRCh37]
Chr2:2q24.3 |
pathogenic|likely pathogenic|uncertain significance |
| NM_001165963.4(SCN1A):c.5702T>G (p.Val1901Gly) |
single nucleotide variant |
Early infantile epileptic encephalopathy with suppression bursts [RCV001431918] |
Chr2:165991573 [GRCh38]
Chr2:166848083 [GRCh37]
Chr2:2q24.3 |
likely benign|uncertain significance |
| NM_001165963.4(SCN1A):c.1001T>C (p.Leu334Pro) |
single nucleotide variant |
Early infantile epileptic encephalopathy with suppression bursts [RCV000705801] |
Chr2:166048913 [GRCh38]
Chr2:166905423 [GRCh37]
Chr2:2q24.3 |
pathogenic|uncertain significance |
| NM_001165963.4(SCN1A):c.797T>C (p.Leu266Pro) |
single nucleotide variant |
Early infantile epileptic encephalopathy with suppression bursts [RCV000699313]|not provided [RCV002263940] |
Chr2:166051886 [GRCh38]
Chr2:166908396 [GRCh37]
Chr2:2q24.3 |
likely pathogenic|uncertain significance |
| NM_001165963.4(SCN1A):c.3343_3344del (p.Val1115fs) |
deletion |
Early infantile epileptic encephalopathy with suppression bursts [RCV000685309] |
Chr2:166036133..166036134 [GRCh38]
Chr2:166892643..166892644 [GRCh37]
Chr2:2q24.3 |
pathogenic |
| NM_001165963.4(SCN1A):c.4541T>G (p.Leu1514Ter) |
single nucleotide variant |
Early infantile epileptic encephalopathy with suppression bursts [RCV000706022] |
Chr2:165996053 [GRCh38]
Chr2:166852563 [GRCh37]
Chr2:2q24.3 |
pathogenic |
| NM_001165963.4(SCN1A):c.4339G>C (p.Val1447Leu) |
single nucleotide variant |
Early infantile epileptic encephalopathy with suppression bursts [RCV000706100] |
Chr2:165998175 [GRCh38]
Chr2:166854685 [GRCh37]
Chr2:2q24.3 |
uncertain significance |
| NM_001165963.4(SCN1A):c.4563_4581+39del |
deletion |
Early infantile epileptic encephalopathy with suppression bursts [RCV000699910] |
Chr2:165995974..165996031 [GRCh38]
Chr2:166852484..166852541 [GRCh37]
Chr2:2q24.3 |
likely pathogenic |
| NM_001165963.4(SCN1A):c.3787T>C (p.Phe1263Leu) |
single nucleotide variant |
Early infantile epileptic encephalopathy with suppression bursts [RCV000700072]|not provided [RCV003140110] |
Chr2:166012201 [GRCh38]
Chr2:166868711 [GRCh37]
Chr2:2q24.3 |
likely pathogenic|uncertain significance |
| NM_001165963.4(SCN1A):c.542A>G (p.Glu181Gly) |
single nucleotide variant |
Early infantile epileptic encephalopathy with suppression bursts [RCV000689363]|Migraine, familial hemiplegic, 3 [RCV002477544] |
Chr2:166054698 [GRCh38]
Chr2:166911208 [GRCh37]
Chr2:2q24.3 |
uncertain significance |
| NM_001165963.4(SCN1A):c.3579A>C (p.Gln1193His) |
single nucleotide variant |
Early infantile epileptic encephalopathy with suppression bursts [RCV000691953] |
Chr2:166013870 [GRCh38]
Chr2:166870380 [GRCh37]
Chr2:2q24.3 |
uncertain significance |
| NM_001165963.4(SCN1A):c.3597C>T (p.Gly1199=) |
single nucleotide variant |
Early infantile epileptic encephalopathy with suppression bursts [RCV000700240]|not provided [RCV001549456] |
Chr2:166013852 [GRCh38]
Chr2:166870362 [GRCh37]
Chr2:2q24.3 |
likely benign|uncertain significance |
| NM_001165963.4(SCN1A):c.4216G>T (p.Ala1406Ser) |
single nucleotide variant |
Early infantile epileptic encephalopathy with suppression bursts [RCV000686244] |
Chr2:166002540 [GRCh38]
Chr2:166859050 [GRCh37]
Chr2:2q24.3 |
likely pathogenic|uncertain significance |
| NM_001165963.4(SCN1A):c.4734G>A (p.Leu1578=) |
single nucleotide variant |
Early infantile epileptic encephalopathy with suppression bursts [RCV000703746] |
Chr2:165994264 [GRCh38]
Chr2:166850774 [GRCh37]
Chr2:2q24.3 |
uncertain significance |
| NM_001165963.4(SCN1A):c.4581+5G>C |
single nucleotide variant |
Early infantile epileptic encephalopathy with suppression bursts [RCV000692314]|Severe myoclonic epilepsy in infancy [RCV002289971] |
Chr2:165996008 [GRCh38]
Chr2:166852518 [GRCh37]
Chr2:2q24.3 |
pathogenic|likely pathogenic |
| NM_001165963.4(SCN1A):c.1269del (p.Met424fs) |
deletion |
Early infantile epileptic encephalopathy with suppression bursts [RCV000686531] |
Chr2:166046878 [GRCh38]
Chr2:166903388 [GRCh37]
Chr2:2q24.3 |
pathogenic |
| NM_001165963.4(SCN1A):c.981G>A (p.Leu327=) |
single nucleotide variant |
Early infantile epileptic encephalopathy with suppression bursts [RCV000706421] |
Chr2:166048933 [GRCh38]
Chr2:166905443 [GRCh37]
Chr2:2q24.3 |
likely benign|uncertain significance |
| NM_001165963.4(SCN1A):c.5267G>A (p.Cys1756Tyr) |
single nucleotide variant |
Early infantile epileptic encephalopathy with suppression bursts [RCV000701720] |
Chr2:165992008 [GRCh38]
Chr2:166848518 [GRCh37]
Chr2:2q24.3 |
pathogenic|uncertain significance |
| NM_001165963.4(SCN1A):c.4234A>G (p.Lys1412Glu) |
single nucleotide variant |
Early infantile epileptic encephalopathy with suppression bursts [RCV000697510]|Migraine, familial hemiplegic, 3 [RCV002275118] |
Chr2:166002522 [GRCh38]
Chr2:166859032 [GRCh37]
Chr2:2q24.3 |
uncertain significance |
| NM_001165963.4(SCN1A):c.4512G>C (p.Gln1504His) |
single nucleotide variant |
Early infantile epileptic encephalopathy with suppression bursts [RCV000703998] |
Chr2:165996082 [GRCh38]
Chr2:166852592 [GRCh37]
Chr2:2q24.3 |
pathogenic|uncertain significance |
| NM_001165963.4(SCN1A):c.1118dup (p.Leu373fs) |
duplication |
Early infantile epileptic encephalopathy with suppression bursts [RCV000692737] |
Chr2:166047678..166047679 [GRCh38]
Chr2:166904188..166904189 [GRCh37]
Chr2:2q24.3 |
pathogenic |
| NM_001165963.4(SCN1A):c.4002+1953_4221del |
deletion |
Early infantile epileptic encephalopathy with suppression bursts [RCV000692745] |
Chr2:166002535..166007766 [GRCh38]
Chr2:166859045..166864276 [GRCh37]
Chr2:2q24.3 |
pathogenic |
| NM_001165963.4(SCN1A):c.1153G>C (p.Glu385Gln) |
single nucleotide variant |
Early infantile epileptic encephalopathy with suppression bursts [RCV000689931] |
Chr2:166047644 [GRCh38]
Chr2:166904154 [GRCh37]
Chr2:2q24.3 |
pathogenic|uncertain significance |
| NM_001165963.4(SCN1A):c.655_964+402del |
deletion |
Early infantile epileptic encephalopathy with suppression bursts [RCV000702298] |
Chr2:166051317..166052891 [GRCh38]
Chr2:166907827..166909401 [GRCh37]
Chr2:2q24.3 |
pathogenic |
| NM_001165963.4(SCN1A):c.1975G>C (p.Val659Leu) |
single nucleotide variant |
Early infantile epileptic encephalopathy with suppression bursts [RCV000704340] |
Chr2:166043737 [GRCh38]
Chr2:166900247 [GRCh37]
Chr2:2q24.3 |
likely benign|uncertain significance |
| NM_001165963.4(SCN1A):c.4976T>C (p.Leu1659Pro) |
single nucleotide variant |
Early infantile epileptic encephalopathy with suppression bursts [RCV000695436] |
Chr2:165992299 [GRCh38]
Chr2:166848809 [GRCh37]
Chr2:2q24.3 |
pathogenic|uncertain significance |
| NM_001165963.4(SCN1A):c.1181_1182delinsGA (p.Ala394Gly) |
indel |
Early infantile epileptic encephalopathy with suppression bursts [RCV000702492] |
Chr2:166046965..166046966 [GRCh38]
Chr2:166903475..166903476 [GRCh37]
Chr2:2q24.3 |
uncertain significance |
| NM_001165963.4(SCN1A):c.1518_1519del (p.Lys507fs) |
deletion |
Early infantile epileptic encephalopathy with suppression bursts [RCV000690595] |
Chr2:166045186..166045187 [GRCh38]
Chr2:166901696..166901697 [GRCh37]
Chr2:2q24.3 |
pathogenic |
| NM_001165963.4(SCN1A):c.2747A>G (p.Tyr916Cys) |
single nucleotide variant |
Early infantile epileptic encephalopathy with suppression bursts [RCV000688398] |
Chr2:166037975 [GRCh38]
Chr2:166894485 [GRCh37]
Chr2:2q24.3 |
uncertain significance |
| NM_001165963.4(SCN1A):c.4238T>A (p.Val1413Glu) |
single nucleotide variant |
Early infantile epileptic encephalopathy with suppression bursts [RCV000704851] |
Chr2:166002518 [GRCh38]
Chr2:166859028 [GRCh37]
Chr2:2q24.3 |
uncertain significance |
| NM_001165963.4(SCN1A):c.5468T>C (p.Met1823Thr) |
single nucleotide variant |
Early infantile epileptic encephalopathy with suppression bursts [RCV000693631]|Severe myoclonic epilepsy in infancy [RCV001253286]|not provided [RCV001200252] |
Chr2:165991807 [GRCh38]
Chr2:166848317 [GRCh37]
Chr2:2q24.3 |
pathogenic|likely pathogenic|uncertain significance |
| NM_001165963.4(SCN1A):c.5804T>C (p.Val1935Ala) |
single nucleotide variant |
Early infantile epileptic encephalopathy with suppression bursts [RCV000695694] |
Chr2:165991471 [GRCh38]
Chr2:166847981 [GRCh37]
Chr2:2q24.3 |
uncertain significance |
| NM_001165963.4(SCN1A):c.2665del (p.Ala889fs) |
deletion |
Early infantile epileptic encephalopathy with suppression bursts [RCV000688616] |
Chr2:166038057 [GRCh38]
Chr2:166894567 [GRCh37]
Chr2:2q24.3 |
pathogenic |
| NM_001165963.4(SCN1A):c.4697G>A (p.Ser1566Asn) |
single nucleotide variant |
Early infantile epileptic encephalopathy with suppression bursts [RCV000693716]|Inborn genetic diseases [RCV002315994] |
Chr2:165994301 [GRCh38]
Chr2:166850811 [GRCh37]
Chr2:2q24.3 |
uncertain significance |
| NM_001165963.4(SCN1A):c.423C>A (p.Asn141Lys) |
single nucleotide variant |
Early infantile epileptic encephalopathy with suppression bursts [RCV000707710] |
Chr2:166056461 [GRCh38]
Chr2:166912971 [GRCh37]
Chr2:2q24.3 |
likely pathogenic |
| NM_001165963.4(SCN1A):c.2800A>G (p.Met934Val) |
single nucleotide variant |
Early infantile epileptic encephalopathy with suppression bursts [RCV000695864]|not provided [RCV003235356] |
Chr2:166037922 [GRCh38]
Chr2:166894432 [GRCh37]
Chr2:2q24.3 |
pathogenic |
| NM_001165963.4(SCN1A):c.557T>C (p.Leu186Pro) |
single nucleotide variant |
Early infantile epileptic encephalopathy with suppression bursts [RCV000703113] |
Chr2:166054683 [GRCh38]
Chr2:166911193 [GRCh37]
Chr2:2q24.3 |
likely pathogenic |
| NM_001165963.4(SCN1A):c.3139G>A (p.Glu1047Lys) |
single nucleotide variant |
Early infantile epileptic encephalopathy with suppression bursts [RCV000691199] |
Chr2:166036338 [GRCh38]
Chr2:166892848 [GRCh37]
Chr2:2q24.3 |
uncertain significance |
| NM_001165963.4(SCN1A):c.2234T>G (p.Phe745Cys) |
single nucleotide variant |
Early infantile epileptic encephalopathy with suppression bursts [RCV000696439]|Generalized epilepsy with febrile seizures plus, type 2 [RCV001129703]|Migraine, familial hemiplegic, 3 [RCV001129704] |
Chr2:166041412 [GRCh38]
Chr2:166897922 [GRCh37]
Chr2:2q24.3 |
uncertain significance |
| NM_001165963.4(SCN1A):c.4688_4692del (p.Asp1563fs) |
deletion |
Early infantile epileptic encephalopathy with suppression bursts [RCV000696442] |
Chr2:165994306..165994310 [GRCh38]
Chr2:166850816..166850820 [GRCh37]
Chr2:2q24.3 |
pathogenic |
| NM_001165963.4(SCN1A):c.4980_4981del (p.Phe1661fs) |
microsatellite |
Early infantile epileptic encephalopathy with suppression bursts [RCV000685119] |
Chr2:165992294..165992295 [GRCh38]
Chr2:166848804..166848805 [GRCh37]
Chr2:2q24.3 |
pathogenic |
| NM_001165963.4(SCN1A):c.3611G>A (p.Trp1204Ter) |
single nucleotide variant |
Early infantile epileptic encephalopathy with suppression bursts [RCV000703313]|Severe myoclonic epilepsy in infancy [RCV000986888] |
Chr2:166013838 [GRCh38]
Chr2:166870348 [GRCh37]
Chr2:2q24.3 |
pathogenic |
| NC_000002.11:g.(?_166929868)_(167056374_?)dup |
duplication |
Early infantile epileptic encephalopathy with suppression bursts [RCV000708260]|Neuropathy, hereditary sensory and autonomic, type 2A [RCV001338734] |
Chr2:166073358..166199864 [GRCh38]
Chr2:166929868..167056374 [GRCh37]
Chr2:2q24.3 |
uncertain significance |
| NM_001165963.4(SCN1A):c.4319C>T (p.Ala1440Val) |
single nucleotide variant |
Early infantile epileptic encephalopathy with suppression bursts [RCV000696751]|Severe myoclonic epilepsy in infancy [RCV001251425] |
Chr2:165999742 [GRCh38]
Chr2:166856252 [GRCh37]
Chr2:2q24.3 |
pathogenic|likely pathogenic|uncertain significance |
| NM_001165963.4(SCN1A):c.1306G>T (p.Glu436Ter) |
single nucleotide variant |
Early infantile epileptic encephalopathy with suppression bursts [RCV000706152] |
Chr2:166046841 [GRCh38]
Chr2:166903351 [GRCh37]
Chr2:2q24.3 |
pathogenic |
| NM_001165963.4(SCN1A):c.3368A>C (p.Asp1123Ala) |
single nucleotide variant |
Early infantile epileptic encephalopathy with suppression bursts [RCV000697051] |
Chr2:166036109 [GRCh38]
Chr2:166892619 [GRCh37]
Chr2:2q24.3 |
uncertain significance |
| NM_001165963.4(SCN1A):c.1975G>A (p.Val659Ile) |
single nucleotide variant |
Early infantile epileptic encephalopathy with suppression bursts [RCV000697043] |
Chr2:166043737 [GRCh38]
Chr2:166900247 [GRCh37]
Chr2:2q24.3 |
uncertain significance |
| NM_001165963.4(SCN1A):c.2997C>G (p.Asn999Lys) |
single nucleotide variant |
Early infantile epileptic encephalopathy with suppression bursts [RCV000703775] |
Chr2:166036480 [GRCh38]
Chr2:166892990 [GRCh37]
Chr2:2q24.3 |
likely pathogenic|uncertain significance |
| NM_001165963.4(SCN1A):c.2726T>G (p.Met909Arg) |
single nucleotide variant |
Early infantile epileptic encephalopathy with suppression bursts [RCV000692279] |
Chr2:166037996 [GRCh38]
Chr2:166894506 [GRCh37]
Chr2:2q24.3 |
uncertain significance |
| NM_001165963.4(SCN1A):c.4582-254G>A |
single nucleotide variant |
not provided [RCV001575233] |
Chr2:165994670 [GRCh38]
Chr2:166851180 [GRCh37]
Chr2:2q24.3 |
likely benign |
| NM_001165963.4(SCN1A):c.4338+1G>C |
single nucleotide variant |
Inborn genetic diseases [RCV002313643] |
Chr2:165999722 [GRCh38]
Chr2:166856232 [GRCh37]
Chr2:2q24.3 |
pathogenic |
| NM_001165963.4(SCN1A):c.5995C>T (p.Gln1999Ter) |
single nucleotide variant |
Inborn genetic diseases [RCV002315354] |
Chr2:165991280 [GRCh38]
Chr2:166847790 [GRCh37]
Chr2:2q24.3 |
uncertain significance |
| NM_001165963.4(SCN1A):c.4301G>A (p.Trp1434Ter) |
single nucleotide variant |
Inborn genetic diseases [RCV002317509] |
Chr2:165999760 [GRCh38]
Chr2:166856270 [GRCh37]
Chr2:2q24.3 |
pathogenic |
| NM_001165963.4(SCN1A):c.4384T>C (p.Tyr1462His) |
single nucleotide variant |
Early infantile epileptic encephalopathy with suppression bursts [RCV001862072]|Inborn genetic diseases [RCV002317523] |
Chr2:165998130 [GRCh38]
Chr2:166854640 [GRCh37]
Chr2:2q24.3 |
pathogenic |
| NM_001165963.4(SCN1A):c.1118T>A (p.Leu373Ter) |
single nucleotide variant |
Inborn genetic diseases [RCV002318865] |
Chr2:166047679 [GRCh38]
Chr2:166904189 [GRCh37]
Chr2:2q24.3 |
pathogenic |
| NM_001165963.4(SCN1A):c.4574G>A (p.Arg1525Gln) |
single nucleotide variant |
Early infantile epileptic encephalopathy with suppression bursts [RCV000795943]|Inborn genetic diseases [RCV002316697]|not provided [RCV003106035] |
Chr2:165996020 [GRCh38]
Chr2:166852530 [GRCh37]
Chr2:2q24.3 |
likely pathogenic|uncertain significance |
| NM_001165963.4(SCN1A):c.4450_4453del (p.Asp1484fs) |
deletion |
Inborn genetic diseases [RCV002315492] |
Chr2:165998061..165998064 [GRCh38]
Chr2:166854571..166854574 [GRCh37]
Chr2:2q24.3 |
pathogenic |
| NM_001165963.4(SCN1A):c.2481T>C (p.Tyr827=) |
single nucleotide variant |
Inborn genetic diseases [RCV002317634] |
Chr2:166039531 [GRCh38]
Chr2:166896041 [GRCh37]
Chr2:2q24.3 |
likely benign |
| NM_001165963.4(SCN1A):c.2636T>G (p.Leu879Arg) |
single nucleotide variant |
Inborn genetic diseases [RCV002317508] |
Chr2:166038086 [GRCh38]
Chr2:166894596 [GRCh37]
Chr2:2q24.3 |
likely pathogenic |
| NM_001165963.4(SCN1A):c.3166A>G (p.Asn1056Asp) |
single nucleotide variant |
Early infantile epileptic encephalopathy with suppression bursts [RCV001034011]|Inborn genetic diseases [RCV002317564]|not provided [RCV001546517] |
Chr2:166036311 [GRCh38]
Chr2:166892821 [GRCh37]
Chr2:2q24.3 |
likely benign |
| NM_001165963.4(SCN1A):c.909A>G (p.Thr303=) |
single nucleotide variant |
Early infantile epileptic encephalopathy with suppression bursts [RCV002534971]|Inborn genetic diseases [RCV002317507] |
Chr2:166051774 [GRCh38]
Chr2:166908284 [GRCh37]
Chr2:2q24.3 |
pathogenic|uncertain significance |
| NM_001165963.4(SCN1A):c.4717T>C (p.Leu1573=) |
single nucleotide variant |
Early infantile epileptic encephalopathy with suppression bursts [RCV002534982]|Inborn genetic diseases [RCV002318249] |
Chr2:165994281 [GRCh38]
Chr2:166850791 [GRCh37]
Chr2:2q24.3 |
likely benign |
| NM_001165963.4(SCN1A):c.2811C>T (p.Phe937=) |
single nucleotide variant |
Early infantile epileptic encephalopathy with suppression bursts [RCV001487471]|Inborn genetic diseases [RCV002318348]|not provided [RCV001552415] |
Chr2:166037911 [GRCh38]
Chr2:166894421 [GRCh37]
Chr2:2q24.3 |
likely benign |
| NM_001165963.4(SCN1A):c.3922G>A (p.Glu1308Lys) |
single nucleotide variant |
not provided [RCV001573771] |
Chr2:166009799 [GRCh38]
Chr2:166866309 [GRCh37]
Chr2:2q24.3 |
uncertain significance |
| NM_001165963.4(SCN1A):c.5399del (p.Leu1800fs) |
deletion |
Early infantile epileptic encephalopathy with suppression bursts [RCV000806062] |
Chr2:165991876 [GRCh38]
Chr2:166848386 [GRCh37]
Chr2:2q24.3 |
pathogenic |
| GRCh37/hg19 2p25.3-q37.3(chr2:14238-243048760)x3 |
copy number gain |
not provided [RCV000752802] |
Chr2:14238..243048760 [GRCh37]
Chr2:2p25.3-q37.3 |
pathogenic |
| NM_001165963.4(SCN1A):c.2791C>A (p.Arg931Ser) |
single nucleotide variant |
Early infantile epileptic encephalopathy with suppression bursts [RCV002568884]|Severe myoclonic epilepsy in infancy [RCV001530193] |
Chr2:166037931 [GRCh38]
Chr2:166894441 [GRCh37]
Chr2:2q24.3 |
pathogenic|likely pathogenic |
| GRCh37/hg19 2p25.3-q37.3(chr2:15672-243101834)x3 |
copy number gain |
not provided [RCV000752804] |
Chr2:15672..243101834 [GRCh37]
Chr2:2p25.3-q37.3 |
pathogenic |
| GRCh37/hg19 2q23.3-31.2(chr2:152409978-179325736)x3 |
copy number gain |
not provided [RCV000740654] |
Chr2:152409978..179325736 [GRCh37]
Chr2:2q23.3-31.2 |
pathogenic |
| GRCh37/hg19 2q24.3(chr2:166821406-166911866)x3 |
copy number gain |
not provided [RCV000740666] |
Chr2:166821406..166911866 [GRCh37]
Chr2:2q24.3 |
benign |
| GRCh37/hg19 2q24.3(chr2:166821406-166939893)x3 |
copy number gain |
not provided [RCV000740667] |
Chr2:166821406..166939893 [GRCh37]
Chr2:2q24.3 |
benign |
| GRCh37/hg19 2q24.3(chr2:166844240-166879265)x3 |
copy number gain |
not provided [RCV000740668] |
Chr2:166844240..166879265 [GRCh37]
Chr2:2q24.3 |
benign |
| GRCh37/hg19 2q24.3(chr2:166844240-166914593)x3 |
copy number gain |
not provided [RCV000740669] |
Chr2:166844240..166914593 [GRCh37]
Chr2:2q24.3 |
benign |
| GRCh37/hg19 2q24.3(chr2:166844240-166939277)x3 |
copy number gain |
not provided [RCV000740670] |
Chr2:166844240..166939277 [GRCh37]
Chr2:2q24.3 |
benign |
| GRCh37/hg19 2q24.3(chr2:166845794-166917408)x3 |
copy number gain |
not provided [RCV000740671] |
Chr2:166845794..166917408 [GRCh37]
Chr2:2q24.3 |
benign |
| GRCh37/hg19 2q24.3(chr2:166845794-166940301)x3 |
copy number gain |
not provided [RCV000740672] |
Chr2:166845794..166940301 [GRCh37]
Chr2:2q24.3 |
benign |
| GRCh37/hg19 2q24.3(chr2:166849203-166924472)x3 |
copy number gain |
not provided [RCV000740673] |
Chr2:166849203..166924472 [GRCh37]
Chr2:2q24.3 |
benign |
| GRCh37/hg19 2q24.3(chr2:166849955-166866307)x1 |
copy number loss |
not provided [RCV000740674] |
Chr2:166849955..166866307 [GRCh37]
Chr2:2q24.3 |
benign |
| GRCh37/hg19 2q24.3(chr2:166851429-166869198)x3 |
copy number gain |
not provided [RCV000740675] |
Chr2:166851429..166869198 [GRCh37]
Chr2:2q24.3 |
benign |
| GRCh37/hg19 2q24.3(chr2:166851429-166869446)x3 |
copy number gain |
not provided [RCV000740676] |
Chr2:166851429..166869446 [GRCh37]
Chr2:2q24.3 |
benign |
| GRCh37/hg19 2q24.3(chr2:166851429-166882828)x3 |
copy number gain |
not provided [RCV000740677] |
Chr2:166851429..166882828 [GRCh37]
Chr2:2q24.3 |
benign |
| GRCh37/hg19 2q24.3(chr2:166851429-166939893)x3 |
copy number gain |
not provided [RCV000740678] |
Chr2:166851429..166939893 [GRCh37]
Chr2:2q24.3 |
benign |
| GRCh37/hg19 2q24.3(chr2:166851429-166940301)x3 |
copy number gain |
not provided [RCV000740679] |
Chr2:166851429..166940301 [GRCh37]
Chr2:2q24.3 |
benign |
| GRCh37/hg19 2q24.3(chr2:166854158-166866307)x1 |
copy number loss |
not provided [RCV000740680] |
Chr2:166854158..166866307 [GRCh37]
Chr2:2q24.3 |
benign |
| GRCh37/hg19 2q24.3(chr2:166854158-166869198)x3 |
copy number gain |
not provided [RCV000740681] |
Chr2:166854158..166869198 [GRCh37]
Chr2:2q24.3 |
benign |
| GRCh37/hg19 2q24.3(chr2:166854158-166879265)x1 |
copy number loss |
not provided [RCV000740682] |
Chr2:166854158..166879265 [GRCh37]
Chr2:2q24.3 |
benign |
| GRCh37/hg19 2q24.3(chr2:166905375-166909104)x4 |
copy number gain |
not provided [RCV000740683] |
Chr2:166905375..166909104 [GRCh37]
Chr2:2q24.3 |
benign |
| GRCh37/hg19 2q24.3(chr2:166905572-166911685)x3 |
copy number gain |
not provided [RCV000740684] |
Chr2:166905572..166911685 [GRCh37]
Chr2:2q24.3 |
benign |
| GRCh37/hg19 2q24.3(chr2:166999968-167000966)x1 |
copy number loss |
not provided [RCV000740685] |
Chr2:166999968..167000966 [GRCh37]
Chr2:2q24.3 |
benign |
| NM_001165963.4(SCN1A):c.495T>C (p.Tyr165=) |
single nucleotide variant |
not provided [RCV001528948] |
Chr2:166054745 [GRCh38]
Chr2:166911255 [GRCh37]
Chr2:2q24.3 |
likely benign |
| NM_001165963.4(SCN1A):c.1247A>G (p.Asn416Ser) |
single nucleotide variant |
Severe myoclonic epilepsy in infancy [RCV001724786] |
Chr2:166046900 [GRCh38]
Chr2:166903410 [GRCh37]
Chr2:2q24.3 |
likely pathogenic |
| NM_001165963.4(SCN1A):c.3506T>G (p.Val1169Gly) |
single nucleotide variant |
Early infantile epileptic encephalopathy with suppression bursts [RCV002001790] |
Chr2:166015651 [GRCh38]
Chr2:166872161 [GRCh37]
Chr2:2q24.3 |
likely benign|uncertain significance |
| NM_001165963.4(SCN1A):c.4581A>G (p.Gly1527=) |
single nucleotide variant |
not provided [RCV001571234] |
Chr2:165996013 [GRCh38]
Chr2:166852523 [GRCh37]
Chr2:2q24.3 |
likely benign |
| NM_001165963.4(SCN1A):c.5601C>T (p.Ile1867=) |
single nucleotide variant |
Early infantile epileptic encephalopathy with suppression bursts [RCV001486618] |
Chr2:165991674 [GRCh38]
Chr2:166848184 [GRCh37]
Chr2:2q24.3 |
likely benign |
| NM_001165963.4(SCN1A):c.2166T>C (p.Asn722=) |
single nucleotide variant |
Early infantile epileptic encephalopathy with suppression bursts [RCV001451697] |
Chr2:166042302 [GRCh38]
Chr2:166898812 [GRCh37]
Chr2:2q24.3 |
likely benign |
| NM_001165963.4(SCN1A):c.725A>G (p.Gln242Arg) |
single nucleotide variant |
Generalized epilepsy with febrile seizures plus, type 2 [RCV001543135] |
Chr2:166051958 [GRCh38]
Chr2:166908468 [GRCh37]
Chr2:2q24.3 |
likely pathogenic |
| NM_001165963.4(SCN1A):c.4999del (p.Leu1667fs) |
deletion |
Generalized epilepsy with febrile seizures plus, type 2 [RCV001580609] |
Chr2:165992276 [GRCh38]
Chr2:166848786 [GRCh37]
Chr2:2q24.3 |
pathogenic |
| NM_001165963.4(SCN1A):c.4489G>A (p.Asp1497Asn) |
single nucleotide variant |
Generalized epilepsy with febrile seizures plus, type 2 [RCV001706866] |
Chr2:165996105 [GRCh38]
Chr2:166852615 [GRCh37]
Chr2:2q24.3 |
uncertain significance |
| NM_001165963.4(SCN1A):c.2879T>C (p.Met960Thr) |
single nucleotide variant |
Generalized epilepsy with febrile seizures plus, type 2 [RCV001004752] |
Chr2:166037843 [GRCh38]
Chr2:166894353 [GRCh37]
Chr2:2q24.3 |
pathogenic |
| NM_001165963.4(SCN1A):c.3887T>C (p.Leu1296Ser) |
single nucleotide variant |
not provided [RCV000762054] |
Chr2:166009834 [GRCh38]
Chr2:166866344 [GRCh37]
Chr2:2q24.3 |
uncertain significance |
| NM_001165963.4(SCN1A):c.320C>T (p.Ala107Val) |
single nucleotide variant |
not provided [RCV000762057] |
Chr2:166058633 [GRCh38]
Chr2:166915143 [GRCh37]
Chr2:2q24.3 |
uncertain significance |
| NM_001165963.4(SCN1A):c.2667T>C (p.Ala889=) |
single nucleotide variant |
not provided [RCV000762055] |
Chr2:166038055 [GRCh38]
Chr2:166894565 [GRCh37]
Chr2:2q24.3 |
likely benign |
| NM_001165963.4(SCN1A):c.2177-6A>G |
single nucleotide variant |
not provided [RCV000762056] |
Chr2:166041475 [GRCh38]
Chr2:166897985 [GRCh37]
Chr2:2q24.3 |
uncertain significance |
| NM_001165963.4(SCN1A):c.237C>T (p.Asp79=) |
single nucleotide variant |
not provided [RCV000762058] |
Chr2:166073385 [GRCh38]
Chr2:166929895 [GRCh37]
Chr2:2q24.3 |
likely benign |
| NM_001165963.4(SCN1A):c.4582-11T>G |
single nucleotide variant |
not provided [RCV003312498] |
Chr2:165994427 [GRCh38]
Chr2:166850937 [GRCh37]
Chr2:2q24.3 |
likely pathogenic|uncertain significance |
| NM_001165963.4(SCN1A):c.4343A>G (p.Glu1448Gly) |
single nucleotide variant |
not provided [RCV003312499] |
Chr2:165998171 [GRCh38]
Chr2:166854681 [GRCh37]
Chr2:2q24.3 |
uncertain significance |
| NM_001165963.4(SCN1A):c.382_383+4del |
deletion |
not provided [RCV003312500] |
Chr2:166058566..166058571 [GRCh38]
Chr2:166915076..166915081 [GRCh37]
Chr2:2q24.3 |
pathogenic |
| NM_001165963.4(SCN1A):c.1378C>T (p.Gln460Ter) |
single nucleotide variant |
not provided [RCV000760322] |
Chr2:166045327 [GRCh38]
Chr2:166901837 [GRCh37]
Chr2:2q24.3 |
pathogenic |
| NM_001165963.4(SCN1A):c.3457G>T (p.Glu1153Ter) |
single nucleotide variant |
not provided [RCV000760388] |
Chr2:166015700 [GRCh38]
Chr2:166872210 [GRCh37]
Chr2:2q24.3 |
likely pathogenic |
| NM_001165963.4(SCN1A):c.4504G>T (p.Glu1502Ter) |
single nucleotide variant |
not provided [RCV000760539] |
Chr2:165996090 [GRCh38]
Chr2:166852600 [GRCh37]
Chr2:2q24.3 |
pathogenic |
| NM_001165963.4(SCN1A):c.2208del (p.Cys737fs) |
deletion |
SCN1A Seizure Disorders [RCV003315103] |
Chr2:166041438 [GRCh38]
Chr2:166897948 [GRCh37]
Chr2:2q24.3 |
pathogenic |
| NM_001165963.4(SCN1A):c.1354A>T (p.Lys452Ter) |
single nucleotide variant |
Migraine, familial hemiplegic, 3 [RCV002500983]|not provided [RCV000760615] |
Chr2:166046793 [GRCh38]
Chr2:166903303 [GRCh37]
Chr2:2q24.3 |
pathogenic |
| NM_001165963.4(SCN1A):c.3762T>A (p.Tyr1254Ter) |
single nucleotide variant |
Early infantile epileptic encephalopathy with suppression bursts [RCV001068081]|Generalized epilepsy with febrile seizures plus, type 2 [RCV001194608] |
Chr2:166012226 [GRCh38]
Chr2:166868736 [GRCh37]
Chr2:2q24.3 |
pathogenic |
| NM_001165963.4(SCN1A):c.575G>A (p.Trp192Ter) |
single nucleotide variant |
Early infantile epileptic encephalopathy with suppression bursts [RCV001068164] |
Chr2:166054665 [GRCh38]
Chr2:166911175 [GRCh37]
Chr2:2q24.3 |
pathogenic |
| NC_000002.12:g.(?_166036028)_(166039616_?)dup |
duplication |
Early infantile epileptic encephalopathy with suppression bursts [RCV001032341] |
Chr2:166892538..166896126 [GRCh37]
Chr2:2q24.3 |
uncertain significance |
| NM_001165963.4(SCN1A):c.1186G>A (p.Gly396Arg) |
single nucleotide variant |
Early infantile epileptic encephalopathy with suppression bursts [RCV003753267]|Severe myoclonic epilepsy in infancy [RCV003314358] |
Chr2:166046961 [GRCh38]
Chr2:166903471 [GRCh37]
Chr2:2q24.3 |
pathogenic |
| NM_001165963.4(SCN1A):c.4477-3T>C |
single nucleotide variant |
Early infantile epileptic encephalopathy with suppression bursts [RCV001044276]|not provided [RCV003141963] |
Chr2:165996120 [GRCh38]
Chr2:166852630 [GRCh37]
Chr2:2q24.3 |
pathogenic|uncertain significance |
| NM_001165963.4(SCN1A):c.5044T>C (p.Phe1682Leu) |
single nucleotide variant |
not provided [RCV003238931] |
Chr2:165992231 [GRCh38]
Chr2:166848741 [GRCh37]
Chr2:2q24.3 |
uncertain significance |
| NM_001165963.4(SCN1A):c.1225T>C (p.Leu409=) |
single nucleotide variant |
Early infantile epileptic encephalopathy with suppression bursts [RCV002568454]|not provided [RCV001569928] |
Chr2:166046922 [GRCh38]
Chr2:166903432 [GRCh37]
Chr2:2q24.3 |
likely benign |
| NM_001165963.4(SCN1A):c.3726del (p.Ile1242fs) |
deletion |
Early infantile epileptic encephalopathy with suppression bursts [RCV001066245] |
Chr2:166012262 [GRCh38]
Chr2:166868772 [GRCh37]
Chr2:2q24.3 |
pathogenic |
| NM_001165963.4(SCN1A):c.3429+109_3429+113del |
deletion |
not provided [RCV001641800] |
Chr2:166035935..166035939 [GRCh38]
Chr2:166892445..166892449 [GRCh37]
Chr2:2q24.3 |
benign |
| NM_001165963.4(SCN1A):c.2425G>A (p.Gly809Arg) |
single nucleotide variant |
See cases [RCV001568398] |
Chr2:166039587 [GRCh38]
Chr2:166896097 [GRCh37]
Chr2:2q24.3 |
not provided |
| NM_001165963.4(SCN1A):c.36del (p.Asp12fs) |
deletion |
Severe myoclonic epilepsy in infancy [RCV001090160] |
Chr2:166073586 [GRCh38]
Chr2:166930096 [GRCh37]
Chr2:2q24.3 |
pathogenic |
| NM_001165963.4(SCN1A):c.3550+34T>G |
single nucleotide variant |
not provided [RCV001547757] |
Chr2:166015573 [GRCh38]
Chr2:166872083 [GRCh37]
Chr2:2q24.3 |
likely benign |
| NM_001165963.4(SCN1A):c.2961del (p.Leu988fs) |
deletion |
Early infantile epileptic encephalopathy with suppression bursts [RCV001067211] |
Chr2:166036516 [GRCh38]
Chr2:166893026 [GRCh37]
Chr2:2q24.3 |
pathogenic |
| NM_001165963.4(SCN1A):c.1639_1640del (p.Lys547fs) |
deletion |
Severe myoclonic epilepsy in infancy [RCV001706836] |
Chr2:166045065..166045066 [GRCh38]
Chr2:166901575..166901576 [GRCh37]
Chr2:2q24.3 |
pathogenic |
| NC_000002.12:g.(?_166073338)_(166073641_?)del |
deletion |
Early infantile epileptic encephalopathy with suppression bursts [RCV001031584] |
Chr2:166929848..166930151 [GRCh37]
Chr2:2q24.3 |
pathogenic |
| NM_001165963.4(SCN1A):c.4521C>A (p.Tyr1507Ter) |
single nucleotide variant |
Early infantile epileptic encephalopathy with suppression bursts [RCV003753181]|Inborn genetic diseases [RCV002334593]|not provided [RCV001548105] |
Chr2:165996073 [GRCh38]
Chr2:166852583 [GRCh37]
Chr2:2q24.3 |
pathogenic |
| NM_001165963.4(SCN1A):c.779dup (p.Phe261fs) |
duplication |
not provided [RCV000997287] |
Chr2:166051903..166051904 [GRCh38]
Chr2:166908413..166908414 [GRCh37]
Chr2:2q24.3 |
likely pathogenic |
| NM_001165963.4(SCN1A):c.3325C>A (p.Pro1109Thr) |
single nucleotide variant |
Early infantile epileptic encephalopathy with suppression bursts [RCV001882689]|not provided [RCV001576256] |
Chr2:166036152 [GRCh38]
Chr2:166892662 [GRCh37]
Chr2:2q24.3 |
uncertain significance |
| NM_001165963.4(SCN1A):c.5956T>C (p.Tyr1986His) |
single nucleotide variant |
not provided [RCV001568918] |
Chr2:165991319 [GRCh38]
Chr2:166847829 [GRCh37]
Chr2:2q24.3 |
uncertain significance |
| NM_001165963.4(SCN1A):c.5261G>A (p.Gly1754Glu) |
single nucleotide variant |
Early infantile epileptic encephalopathy with suppression bursts [RCV001380827]|Severe myoclonic epilepsy in infancy [RCV000986870] |
Chr2:165992014 [GRCh38]
Chr2:166848524 [GRCh37]
Chr2:2q24.3 |
pathogenic|likely pathogenic |
| NM_001165963.4(SCN1A):c.5217del (p.Asp1740fs) |
deletion |
Severe myoclonic epilepsy in infancy [RCV000986871] |
Chr2:165992058 [GRCh38]
Chr2:166848568 [GRCh37]
Chr2:2q24.3 |
pathogenic |
| NM_001165963.4(SCN1A):c.4539dup (p.Leu1514fs) |
duplication |
Early infantile epileptic encephalopathy with suppression bursts [RCV003588704]|Severe myoclonic epilepsy in infancy [RCV000986877] |
Chr2:165996054..165996055 [GRCh38]
Chr2:166852564..166852565 [GRCh37]
Chr2:2q24.3 |
pathogenic |
| NM_001165963.4(SCN1A):c.4146del (p.Asp1383fs) |
deletion |
Severe myoclonic epilepsy in infancy [RCV000986881] |
Chr2:166002610 [GRCh38]
Chr2:166859120 [GRCh37]
Chr2:2q24.3 |
likely pathogenic |
| NM_001165963.4(SCN1A):c.2415+1G>A |
single nucleotide variant |
Severe myoclonic epilepsy in infancy [RCV000986897] |
Chr2:166041230 [GRCh38]
Chr2:166897740 [GRCh37]
Chr2:2q24.3 |
pathogenic |
| NM_001165963.4(SCN1A):c.1810dup (p.Arg604fs) |
duplication |
Severe myoclonic epilepsy in infancy [RCV000986904] |
Chr2:166043901..166043902 [GRCh38]
Chr2:166900411..166900412 [GRCh37]
Chr2:2q24.3 |
likely pathogenic |
| NM_001165963.4(SCN1A):c.1543A>T (p.Lys515Ter) |
single nucleotide variant |
Severe myoclonic epilepsy in infancy [RCV000986905] |
Chr2:166045162 [GRCh38]
Chr2:166901672 [GRCh37]
Chr2:2q24.3 |
pathogenic |
| NM_001165963.4(SCN1A):c.1077T>A (p.Asn359Lys) |
single nucleotide variant |
Severe myoclonic epilepsy in infancy [RCV000986907] |
Chr2:166047720 [GRCh38]
Chr2:166904230 [GRCh37]
Chr2:2q24.3 |
likely pathogenic |
| NM_001165963.4(SCN1A):c.262_264+1del |
deletion |
Severe myoclonic epilepsy in infancy [RCV000986919] |
Chr2:166073357..166073360 [GRCh38]
Chr2:166929867..166929870 [GRCh37]
Chr2:2q24.3 |
pathogenic |
| NC_000002.12:g.(?_165995993)_(166073641_?)del |
deletion |
Early infantile epileptic encephalopathy with suppression bursts [RCV001031811] |
Chr2:166852503..166930151 [GRCh37]
Chr2:2q24.3 |
pathogenic |
| NM_001165963.4(SCN1A):c.2946+10C>T |
single nucleotide variant |
not provided [RCV000922770] |
Chr2:166037766 [GRCh38]
Chr2:166894276 [GRCh37]
Chr2:2q24.3 |
likely benign |
| NM_001165963.4(SCN1A):c.4359T>C (p.Tyr1453=) |
single nucleotide variant |
Early infantile epileptic encephalopathy with suppression bursts [RCV001418761]|not provided [RCV000868255] |
Chr2:165998155 [GRCh38]
Chr2:166854665 [GRCh37]
Chr2:2q24.3 |
benign|likely benign |
| NM_001165963.4(SCN1A):c.5283T>G (p.Val1761=) |
single nucleotide variant |
Early infantile epileptic encephalopathy with suppression bursts [RCV001506332] |
Chr2:165991992 [GRCh38]
Chr2:166848502 [GRCh37]
Chr2:2q24.3 |
likely benign |
| NM_001165963.4(SCN1A):c.5787C>T (p.His1929=) |
single nucleotide variant |
Early infantile epileptic encephalopathy with suppression bursts [RCV001407304] |
Chr2:165991488 [GRCh38]
Chr2:166847998 [GRCh37]
Chr2:2q24.3 |
likely benign |
| NM_001165963.4(SCN1A):c.1527G>A (p.Gln509=) |
single nucleotide variant |
Early infantile epileptic encephalopathy with suppression bursts [RCV001463539] |
Chr2:166045178 [GRCh38]
Chr2:166901688 [GRCh37]
Chr2:2q24.3 |
likely benign |
| NM_001165963.4(SCN1A):c.2236T>C (p.Leu746=) |
single nucleotide variant |
Early infantile epileptic encephalopathy with suppression bursts [RCV002548343]|not provided [RCV000970401] |
Chr2:166041410 [GRCh38]
Chr2:166897920 [GRCh37]
Chr2:2q24.3 |
benign|likely benign |
| NM_001165963.4(SCN1A):c.1440A>C (p.Ser480=) |
single nucleotide variant |
Early infantile epileptic encephalopathy with suppression bursts [RCV001447803]|not provided [RCV000866979] |
Chr2:166045265 [GRCh38]
Chr2:166901775 [GRCh37]
Chr2:2q24.3 |
likely benign |
| NM_001165963.4(SCN1A):c.4920T>C (p.Leu1640=) |
single nucleotide variant |
Early infantile epileptic encephalopathy with suppression bursts [RCV001473754] |
Chr2:165992355 [GRCh38]
Chr2:166848865 [GRCh37]
Chr2:2q24.3 |
likely benign |
| NM_001165963.4(SCN1A):c.5007G>A (p.Ala1669=) |
single nucleotide variant |
Early infantile epileptic encephalopathy with suppression bursts [RCV001416579] |
Chr2:165992268 [GRCh38]
Chr2:166848778 [GRCh37]
Chr2:2q24.3 |
likely benign |
| NM_001165963.4(SCN1A):c.2177-7A>T |
single nucleotide variant |
not provided [RCV000950949] |
Chr2:166041476 [GRCh38]
Chr2:166897986 [GRCh37]
Chr2:2q24.3 |
likely benign |
| NM_001165963.4(SCN1A):c.2523G>A (p.Thr841=) |
single nucleotide variant |
Early infantile epileptic encephalopathy with suppression bursts [RCV001396560]|Inborn genetic diseases [RCV002427133] |
Chr2:166039489 [GRCh38]
Chr2:166895999 [GRCh37]
Chr2:2q24.3 |
likely benign |
| NM_001165963.4(SCN1A):c.4662C>A (p.Asn1554Lys) |
single nucleotide variant |
Early infantile epileptic encephalopathy with suppression bursts [RCV001040511] |
Chr2:165994336 [GRCh38]
Chr2:166850846 [GRCh37]
Chr2:2q24.3 |
uncertain significance |
| NM_001165963.4(SCN1A):c.4656T>A (p.Cys1552Ter) |
single nucleotide variant |
Early infantile epileptic encephalopathy with suppression bursts [RCV001058447] |
Chr2:165994342 [GRCh38]
Chr2:166850852 [GRCh37]
Chr2:2q24.3 |
pathogenic |
| NM_001165963.4(SCN1A):c.4339G>T (p.Val1447Leu) |
single nucleotide variant |
Early infantile epileptic encephalopathy with suppression bursts [RCV001058488] |
Chr2:165998175 [GRCh38]
Chr2:166854685 [GRCh37]
Chr2:2q24.3 |
uncertain significance |
| NM_001165963.4(SCN1A):c.3962T>C (p.Leu1321Pro) |
single nucleotide variant |
Early infantile epileptic encephalopathy with suppression bursts [RCV001069101] |
Chr2:166009759 [GRCh38]
Chr2:166866269 [GRCh37]
Chr2:2q24.3 |
uncertain significance |
| NM_001165963.4(SCN1A):c.539T>A (p.Leu180Ter) |
single nucleotide variant |
Early infantile epileptic encephalopathy with suppression bursts [RCV001037788]|Severe myoclonic epilepsy in infancy [RCV001089717] |
Chr2:166054701 [GRCh38]
Chr2:166911211 [GRCh37]
Chr2:2q24.3 |
pathogenic |
| NM_001165963.4(SCN1A):c.2522C>T (p.Thr841Met) |
single nucleotide variant |
Early infantile epileptic encephalopathy with suppression bursts [RCV001055611]|Inborn genetic diseases [RCV002553797]|Severe myoclonic epilepsy in infancy [RCV001729785] |
Chr2:166039490 [GRCh38]
Chr2:166896000 [GRCh37]
Chr2:2q24.3 |
likely pathogenic|likely benign|uncertain significance |
| NM_001165963.4(SCN1A):c.2344A>T (p.Thr782Ser) |
single nucleotide variant |
Early infantile epileptic encephalopathy with suppression bursts [RCV001062381] |
Chr2:166041302 [GRCh38]
Chr2:166897812 [GRCh37]
Chr2:2q24.3 |
uncertain significance |
| NM_001165963.4(SCN1A):c.886A>G (p.Ile296Val) |
single nucleotide variant |
Early infantile epileptic encephalopathy with suppression bursts [RCV001041409]|Migraine, familial hemiplegic, 3 [RCV002489571] |
Chr2:166051797 [GRCh38]
Chr2:166908307 [GRCh37]
Chr2:2q24.3 |
likely benign|uncertain significance |
| NM_001165963.4(SCN1A):c.2970G>C (p.Leu990Phe) |
single nucleotide variant |
Early infantile epileptic encephalopathy with suppression bursts [RCV001055731] |
Chr2:166036507 [GRCh38]
Chr2:166893017 [GRCh37]
Chr2:2q24.3 |
likely pathogenic|uncertain significance |
| NM_001165963.4(SCN1A):c.4244T>C (p.Phe1415Ser) |
single nucleotide variant |
Early infantile epileptic encephalopathy with suppression bursts [RCV001061500] |
Chr2:166002512 [GRCh38]
Chr2:166859022 [GRCh37]
Chr2:2q24.3 |
pathogenic|likely pathogenic |
| NM_001165963.4(SCN1A):c.4358A>G (p.Tyr1453Cys) |
single nucleotide variant |
Early infantile epileptic encephalopathy with suppression bursts [RCV001049503] |
Chr2:165998156 [GRCh38]
Chr2:166854666 [GRCh37]
Chr2:2q24.3 |
pathogenic|uncertain significance |
| NM_001165963.4(SCN1A):c.4040T>C (p.Ile1347Thr) |
single nucleotide variant |
Early infantile epileptic encephalopathy with suppression bursts [RCV001055991]|not provided [RCV003326533] |
Chr2:166002716 [GRCh38]
Chr2:166859226 [GRCh37]
Chr2:2q24.3 |
pathogenic|likely pathogenic |
| NM_001165963.4(SCN1A):c.1047T>G (p.Tyr349Ter) |
single nucleotide variant |
Early infantile epileptic encephalopathy with suppression bursts [RCV001056049]|SCN1A-related condition [RCV003396690] |
Chr2:166047750 [GRCh38]
Chr2:166904260 [GRCh37]
Chr2:2q24.3 |
pathogenic |
| NM_001165963.4(SCN1A):c.4964_4965del (p.Gly1655fs) |
deletion |
Early infantile epileptic encephalopathy with suppression bursts [RCV001041679] |
Chr2:165992310..165992311 [GRCh38]
Chr2:166848820..166848821 [GRCh37]
Chr2:2q24.3 |
pathogenic |
| NM_001165963.4(SCN1A):c.2172del (p.Glu725fs) |
deletion |
Early infantile epileptic encephalopathy with suppression bursts [RCV001041715] |
Chr2:166042296 [GRCh38]
Chr2:166898806 [GRCh37]
Chr2:2q24.3 |
pathogenic |
| NM_001165963.4(SCN1A):c.5444T>C (p.Phe1815Ser) |
single nucleotide variant |
Early infantile epileptic encephalopathy with suppression bursts [RCV001065356] |
Chr2:165991831 [GRCh38]
Chr2:166848341 [GRCh37]
Chr2:2q24.3 |
pathogenic|uncertain significance |
| NM_001165963.4(SCN1A):c.2758_2759del (p.Val920fs) |
microsatellite |
Severe myoclonic epilepsy in infancy [RCV000995638] |
Chr2:166037963..166037964 [GRCh38]
Chr2:166894473..166894474 [GRCh37]
Chr2:2q24.3 |
pathogenic |
| NM_001165963.4(SCN1A):c.2947-10T>A |
single nucleotide variant |
Early infantile epileptic encephalopathy with suppression bursts [RCV001058743] |
Chr2:166036540 [GRCh38]
Chr2:166893050 [GRCh37]
Chr2:2q24.3 |
uncertain significance |
| NM_001165963.4(SCN1A):c.5789T>C (p.Leu1930Pro) |
single nucleotide variant |
Early infantile epileptic encephalopathy with suppression bursts [RCV001053513] |
Chr2:165991486 [GRCh38]
Chr2:166847996 [GRCh37]
Chr2:2q24.3 |
uncertain significance |
| NM_001165963.4(SCN1A):c.4581+2del |
deletion |
Early infantile epileptic encephalopathy with suppression bursts [RCV001047984] |
Chr2:165996011 [GRCh38]
Chr2:166852521 [GRCh37]
Chr2:2q24.3 |
pathogenic |
| NM_001165963.4(SCN1A):c.4231G>A (p.Val1411Met) |
single nucleotide variant |
Early infantile epileptic encephalopathy with suppression bursts [RCV001052241]|not provided [RCV003106104] |
Chr2:166002525 [GRCh38]
Chr2:166859035 [GRCh37]
Chr2:2q24.3 |
uncertain significance |
| NM_001165963.4(SCN1A):c.4490del (p.Asp1497fs) |
deletion |
Early infantile epileptic encephalopathy with suppression bursts [RCV001052661] |
Chr2:165996104 [GRCh38]
Chr2:166852614 [GRCh37]
Chr2:2q24.3 |
pathogenic |
| NM_001165963.4(SCN1A):c.3180_3181insA (p.Cys1061fs) |
insertion |
Early infantile epileptic encephalopathy with suppression bursts [RCV001048203] |
Chr2:166036296..166036297 [GRCh38]
Chr2:166892806..166892807 [GRCh37]
Chr2:2q24.3 |
pathogenic |
| NM_001165963.4(SCN1A):c.2771C>T (p.Ala924Val) |
single nucleotide variant |
Early infantile epileptic encephalopathy with suppression bursts [RCV001035871] |
Chr2:166037951 [GRCh38]
Chr2:166894461 [GRCh37]
Chr2:2q24.3 |
uncertain significance |
| NM_001165963.4(SCN1A):c.2798A>T (p.His933Leu) |
single nucleotide variant |
Early infantile epileptic encephalopathy with suppression bursts [RCV001071816] |
Chr2:166037924 [GRCh38]
Chr2:166894434 [GRCh37]
Chr2:2q24.3 |
uncertain significance |
| NM_001165963.4(SCN1A):c.842C>G (p.Pro281Arg) |
single nucleotide variant |
Generalized epilepsy with febrile seizures plus, type 2 [RCV000995860] |
Chr2:166051841 [GRCh38]
Chr2:166908351 [GRCh37]
Chr2:2q24.3 |
pathogenic |
| NM_001165963.4(SCN1A):c.3551G>A (p.Gly1184Asp) |
single nucleotide variant |
Early infantile epileptic encephalopathy with suppression bursts [RCV001052248] |
Chr2:166013898 [GRCh38]
Chr2:166870408 [GRCh37]
Chr2:2q24.3 |
uncertain significance |
| NM_001165963.4(SCN1A):c.5701G>A (p.Val1901Ile) |
single nucleotide variant |
Early infantile epileptic encephalopathy with suppression bursts [RCV001033965] |
Chr2:165991574 [GRCh38]
Chr2:166848084 [GRCh37]
Chr2:2q24.3 |
likely benign |
| NM_001165963.4(SCN1A):c.4789_4792del (p.His1597fs) |
deletion |
Severe myoclonic epilepsy in infancy [RCV001089686] |
Chr2:165994206..165994209 [GRCh38]
Chr2:166850716..166850719 [GRCh37]
Chr2:2q24.3 |
pathogenic |
| NM_001165963.4(SCN1A):c.4007T>G (p.Val1336Gly) |
single nucleotide variant |
Severe myoclonic epilepsy in infancy [RCV001089687] |
Chr2:166002749 [GRCh38]
Chr2:166859259 [GRCh37]
Chr2:2q24.3 |
uncertain significance |
| NM_001165963.4(SCN1A):c.1164delinsGG (p.Tyr388Ter) |
indel |
Severe myoclonic epilepsy in infancy [RCV001089692] |
Chr2:166047633 [GRCh38]
Chr2:166904143 [GRCh37]
Chr2:2q24.3 |
pathogenic |
| NM_001165963.4(SCN1A):c.2243G>A (p.Trp748Ter) |
single nucleotide variant |
Early infantile epileptic encephalopathy with suppression bursts [RCV001051932] |
Chr2:166041403 [GRCh38]
Chr2:166897913 [GRCh37]
Chr2:2q24.3 |
pathogenic |
| NM_001165963.4(SCN1A):c.5349G>A (p.Ala1783=) |
single nucleotide variant |
Early infantile epileptic encephalopathy with suppression bursts [RCV001038096]|Inborn genetic diseases [RCV002346252] |
Chr2:165991926 [GRCh38]
Chr2:166848436 [GRCh37]
Chr2:2q24.3 |
likely benign|uncertain significance |
| NM_001165963.4(SCN1A):c.2018T>C (p.Ile673Thr) |
single nucleotide variant |
Early infantile epileptic encephalopathy with suppression bursts [RCV001034230]|not provided [RCV001593192] |
Chr2:166043694 [GRCh38]
Chr2:166900204 [GRCh37]
Chr2:2q24.3 |
likely benign|uncertain significance |
| NM_001165963.4(SCN1A):c.2095G>A (p.Val699Ile) |
single nucleotide variant |
Early infantile epileptic encephalopathy with suppression bursts [RCV001034237]|not provided [RCV001092117] |
Chr2:166042373 [GRCh38]
Chr2:166898883 [GRCh37]
Chr2:2q24.3 |
likely benign |
| NM_001165963.4(SCN1A):c.377T>C (p.Val126Ala) |
single nucleotide variant |
Early infantile epileptic encephalopathy with suppression bursts [RCV001052491] |
Chr2:166058576 [GRCh38]
Chr2:166915086 [GRCh37]
Chr2:2q24.3 |
uncertain significance |
| NM_001165963.4(SCN1A):c.4048G>A (p.Val1350Met) |
single nucleotide variant |
Early infantile epileptic encephalopathy with suppression bursts [RCV001039629]|Severe myoclonic epilepsy in infancy [RCV002283519] |
Chr2:166002708 [GRCh38]
Chr2:166859218 [GRCh37]
Chr2:2q24.3 |
pathogenic|likely pathogenic|uncertain significance |
| NM_001165963.4(SCN1A):c.974A>G (p.Tyr325Cys) |
single nucleotide variant |
Early infantile epileptic encephalopathy with suppression bursts [RCV001060255] |
Chr2:166048940 [GRCh38]
Chr2:166905450 [GRCh37]
Chr2:2q24.3 |
pathogenic |
| NM_001165963.4(SCN1A):c.5353A>T (p.Ile1785Phe) |
single nucleotide variant |
Early infantile epileptic encephalopathy with suppression bursts [RCV001070507] |
Chr2:165991922 [GRCh38]
Chr2:166848432 [GRCh37]
Chr2:2q24.3 |
uncertain significance |
| NM_001165963.4(SCN1A):c.2835C>G (p.Phe945Leu) |
single nucleotide variant |
Early infantile epileptic encephalopathy with suppression bursts [RCV001039756]|Generalized epilepsy with febrile seizures plus, type 2 [RCV001809961] |
Chr2:166037887 [GRCh38]
Chr2:166894397 [GRCh37]
Chr2:2q24.3 |
pathogenic|likely pathogenic |
| NM_001165963.4(SCN1A):c.5756C>G (p.Ala1919Gly) |
single nucleotide variant |
Early infantile epileptic encephalopathy with suppression bursts [RCV001052555] |
Chr2:165991519 [GRCh38]
Chr2:166848029 [GRCh37]
Chr2:2q24.3 |
likely pathogenic |
| NM_001165963.4(SCN1A):c.5111T>C (p.Met1704Thr) |
single nucleotide variant |
Early infantile epileptic encephalopathy with suppression bursts [RCV001054226] |
Chr2:165992164 [GRCh38]
Chr2:166848674 [GRCh37]
Chr2:2q24.3 |
likely pathogenic|uncertain significance |
| NM_001165963.4(SCN1A):c.3706-2A>T |
single nucleotide variant |
Early infantile epileptic encephalopathy with suppression bursts [RCV001054340] |
Chr2:166012284 [GRCh38]
Chr2:166868794 [GRCh37]
Chr2:2q24.3 |
pathogenic |
| NM_001165963.4(SCN1A):c.238dup (p.Leu80fs) |
duplication |
Early infantile epileptic encephalopathy with suppression bursts [RCV001054342]|Migraine, familial hemiplegic, 3 [RCV003483768] |
Chr2:166073383..166073384 [GRCh38]
Chr2:166929893..166929894 [GRCh37]
Chr2:2q24.3 |
pathogenic|not provided |
| NM_001165963.4(SCN1A):c.338C>T (p.Pro113Leu) |
single nucleotide variant |
Early infantile epileptic encephalopathy with suppression bursts [RCV001060729] |
Chr2:166058615 [GRCh38]
Chr2:166915125 [GRCh37]
Chr2:2q24.3 |
pathogenic |
| NM_001165963.4(SCN1A):c.2460dup (p.Ala821fs) |
duplication |
Early infantile epileptic encephalopathy with suppression bursts [RCV001040319] |
Chr2:166039551..166039552 [GRCh38]
Chr2:166896061..166896062 [GRCh37]
Chr2:2q24.3 |
pathogenic |
| NM_001165963.4(SCN1A):c.5312T>G (p.Ile1771Ser) |
single nucleotide variant |
Early infantile epileptic encephalopathy with suppression bursts [RCV001057675] |
Chr2:165991963 [GRCh38]
Chr2:166848473 [GRCh37]
Chr2:2q24.3 |
pathogenic |
| NM_001165963.4(SCN1A):c.3429+212T>C |
single nucleotide variant |
not provided [RCV000828408] |
Chr2:166035836 [GRCh38]
Chr2:166892346 [GRCh37]
Chr2:2q24.3 |
benign |
| NM_001165963.4(SCN1A):c.5860C>T (p.Leu1954Phe) |
single nucleotide variant |
Early infantile epileptic encephalopathy with suppression bursts [RCV000807180] |
Chr2:165991415 [GRCh38]
Chr2:166847925 [GRCh37]
Chr2:2q24.3 |
uncertain significance |
| NM_001165963.4(SCN1A):c.1171-19C>A |
single nucleotide variant |
Early infantile epileptic encephalopathy with suppression bursts [RCV002067370]|not specified [RCV000780699] |
Chr2:166046995 [GRCh38]
Chr2:166903505 [GRCh37]
Chr2:2q24.3 |
likely benign|uncertain significance |
| NM_001165963.4(SCN1A):c.4338+616G>A |
single nucleotide variant |
Severe myoclonic epilepsy in infancy [RCV000855538] |
Chr2:165999107 [GRCh38]
Chr2:166855617 [GRCh37]
Chr2:2q24.3 |
likely pathogenic |
| Single allele |
deletion |
not provided [RCV000768457] |
Chr2:162485583..168295583 [GRCh37]
Chr2:2q24.2-24.3 |
pathogenic |
| NM_001165963.4(SCN1A):c.4467del (p.Lys1491fs) |
deletion |
Autosomal dominant epilepsy [RCV000780698] |
Chr2:165998047 [GRCh38]
Chr2:166854557 [GRCh37]
Chr2:2q24.3 |
likely pathogenic |
| NM_001165963.4(SCN1A):c.3968C>T (p.Pro1323Leu) |
single nucleotide variant |
Early infantile epileptic encephalopathy with suppression bursts [RCV001054959]|not specified [RCV000781833] |
Chr2:166009753 [GRCh38]
Chr2:166866263 [GRCh37]
Chr2:2q24.3 |
likely pathogenic|uncertain significance |
| NM_001165963.4(SCN1A):c.203T>C (p.Ile68Thr) |
single nucleotide variant |
Early infantile epileptic encephalopathy with suppression bursts [RCV000819544]|not provided [RCV001759474]|not specified [RCV000781834] |
Chr2:166073419 [GRCh38]
Chr2:166929929 [GRCh37]
Chr2:2q24.3 |
likely pathogenic|uncertain significance |
| Single allele |
deletion |
Epilepsy [RCV000787428] |
Chr2:166818453..166939516 [GRCh37]
Chr2:2q24.3 |
pathogenic |
| NM_001165963.4(SCN1A):c.965-310G>C |
single nucleotide variant |
not provided [RCV000827781] |
Chr2:166049259 [GRCh38]
Chr2:166905769 [GRCh37]
Chr2:2q24.3 |
benign |
| NM_001165963.4(SCN1A):c.3551-3C>T |
single nucleotide variant |
Early infantile epileptic encephalopathy with suppression bursts [RCV000806198] |
Chr2:166013901 [GRCh38]
Chr2:166870411 [GRCh37]
Chr2:2q24.3 |
likely benign|uncertain significance |
| NM_001165963.4(SCN1A):c.4002+8A>G |
single nucleotide variant |
Early infantile epileptic encephalopathy with suppression bursts [RCV000868450] |
Chr2:166009711 [GRCh38]
Chr2:166866221 [GRCh37]
Chr2:2q24.3 |
likely benign |
| NM_001165963.4(SCN1A):c.265-2143G>A |
single nucleotide variant |
Severe myoclonic epilepsy in infancy [RCV000855539] |
Chr2:166060831 [GRCh38]
Chr2:166917341 [GRCh37]
Chr2:2q24.3 |
likely pathogenic |
| NM_001165963.4(SCN1A):c.1821C>G (p.Ser607=) |
single nucleotide variant |
Early infantile epileptic encephalopathy with suppression bursts [RCV001395409] |
Chr2:166043891 [GRCh38]
Chr2:166900401 [GRCh37]
Chr2:2q24.3 |
likely benign |
| NM_001165963.4(SCN1A):c.5349G>C (p.Ala1783=) |
single nucleotide variant |
not provided [RCV000874353] |
Chr2:165991926 [GRCh38]
Chr2:166848436 [GRCh37]
Chr2:2q24.3 |
likely benign |
| NM_001165963.4(SCN1A):c.5970A>C (p.Thr1990=) |
single nucleotide variant |
Early infantile epileptic encephalopathy with suppression bursts [RCV001422868] |
Chr2:165991305 [GRCh38]
Chr2:166847815 [GRCh37]
Chr2:2q24.3 |
likely benign |
| NM_001165963.4(SCN1A):c.2177-10dup |
duplication |
Early infantile epileptic encephalopathy with suppression bursts [RCV001444889] |
Chr2:166041478..166041479 [GRCh38]
Chr2:166897988..166897989 [GRCh37]
Chr2:2q24.3 |
likely benign |
| NM_001165963.4(SCN1A):c.4146T>C (p.Gly1382=) |
single nucleotide variant |
Early infantile epileptic encephalopathy with suppression bursts [RCV002065673] |
Chr2:166002610 [GRCh38]
Chr2:166859120 [GRCh37]
Chr2:2q24.3 |
likely benign |
| NM_001165963.4(SCN1A):c.2278G>A (p.Val760Ile) |
single nucleotide variant |
Early infantile epileptic encephalopathy with suppression bursts [RCV001480508] |
Chr2:166041368 [GRCh38]
Chr2:166897878 [GRCh37]
Chr2:2q24.3 |
likely benign |
| NM_001165963.4(SCN1A):c.1770C>T (p.Phe590=) |
single nucleotide variant |
Early infantile epileptic encephalopathy with suppression bursts [RCV001475919]|Inborn genetic diseases [RCV002399940] |
Chr2:166043942 [GRCh38]
Chr2:166900452 [GRCh37]
Chr2:2q24.3 |
likely benign |
| NM_001165963.4(SCN1A):c.1038A>G (p.Pro346=) |
single nucleotide variant |
Early infantile epileptic encephalopathy with suppression bursts [RCV001490009] |
Chr2:166047759 [GRCh38]
Chr2:166904269 [GRCh37]
Chr2:2q24.3 |
likely benign |
| NM_001165963.4(SCN1A):c.4003-8T>G |
single nucleotide variant |
not provided [RCV002284645] |
Chr2:166002761 [GRCh38]
Chr2:166859271 [GRCh37]
Chr2:2q24.3 |
uncertain significance |
| NM_001165963.4(SCN1A):c.2081C>A (p.Ser694Ter) |
single nucleotide variant |
Seizure [RCV002279982] |
Chr2:166042387 [GRCh38]
Chr2:166898897 [GRCh37]
Chr2:2q24.3 |
likely pathogenic |
| NM_001165963.4(SCN1A):c.5066T>C (p.Met1689Thr) |
single nucleotide variant |
Early infantile epileptic encephalopathy with suppression bursts [RCV001216747]|Generalized epilepsy with febrile seizures plus, type 2 [RCV000770782]|Severe myoclonic epilepsy in infancy [RCV001004769] |
Chr2:165992209 [GRCh38]
Chr2:166848719 [GRCh37]
Chr2:2q24.3 |
likely pathogenic|uncertain significance |
| NM_001165963.4(SCN1A):c.2590-285A>G |
single nucleotide variant |
not provided [RCV000827782] |
Chr2:166038417 [GRCh38]
Chr2:166894927 [GRCh37]
Chr2:2q24.3 |
benign |
| NM_001165963.4(SCN1A):c.694+224dup |
duplication |
not provided [RCV000831938] |
Chr2:166052625..166052626 [GRCh38]
Chr2:166909135..166909136 [GRCh37]
Chr2:2q24.3 |
benign |
| NM_001165963.4(SCN1A):c.2946+120del |
deletion |
not provided [RCV000833289] |
Chr2:166037656 [GRCh38]
Chr2:166894166 [GRCh37]
Chr2:2q24.3 |
benign |
| NM_001165963.4(SCN1A):c.2051C>T (p.Thr684Ile) |
single nucleotide variant |
Early infantile epileptic encephalopathy with suppression bursts [RCV000797562]|not provided [RCV001592978] |
Chr2:166042417 [GRCh38]
Chr2:166898927 [GRCh37]
Chr2:2q24.3 |
uncertain significance |
| NM_001165963.4(SCN1A):c.4631A>G (p.Asp1544Gly) |
single nucleotide variant |
Early infantile epileptic encephalopathy with suppression bursts [RCV000810151] |
Chr2:165994367 [GRCh38]
Chr2:166850877 [GRCh37]
Chr2:2q24.3 |
pathogenic|likely pathogenic |
| NM_001165963.4(SCN1A):c.3551-246C>G |
single nucleotide variant |
not provided [RCV000828343] |
Chr2:166014144 [GRCh38]
Chr2:166870654 [GRCh37]
Chr2:2q24.3 |
benign |
| NM_001165963.4(SCN1A):c.4512G>T (p.Gln1504His) |
single nucleotide variant |
Early infantile epileptic encephalopathy with suppression bursts [RCV000796639]|not provided [RCV001592977] |
Chr2:165996082 [GRCh38]
Chr2:166852592 [GRCh37]
Chr2:2q24.3 |
pathogenic|uncertain significance |
| NM_001165963.4(SCN1A):c.3925C>G (p.Leu1309Val) |
single nucleotide variant |
Early infantile epileptic encephalopathy with suppression bursts [RCV000821070] |
Chr2:166009796 [GRCh38]
Chr2:166866306 [GRCh37]
Chr2:2q24.3 |
likely pathogenic|uncertain significance |
| NM_001165963.4(SCN1A):c.3955A>G (p.Arg1319Gly) |
single nucleotide variant |
Early infantile epileptic encephalopathy with suppression bursts [RCV000821102] |
Chr2:166009766 [GRCh38]
Chr2:166866276 [GRCh37]
Chr2:2q24.3 |
uncertain significance |
| NM_001165963.4(SCN1A):c.1248T>A (p.Asn416Lys) |
single nucleotide variant |
Early infantile epileptic encephalopathy with suppression bursts [RCV000806659] |
Chr2:166046899 [GRCh38]
Chr2:166903409 [GRCh37]
Chr2:2q24.3 |
pathogenic|likely pathogenic |
| NM_001165963.4(SCN1A):c.1171-174A>G |
single nucleotide variant |
not provided [RCV000828337] |
Chr2:166047150 [GRCh38]
Chr2:166903660 [GRCh37]
Chr2:2q24.3 |
benign |
| NM_001165963.4(SCN1A):c.1170+112C>T |
single nucleotide variant |
not provided [RCV000834269] |
Chr2:166047515 [GRCh38]
Chr2:166904025 [GRCh37]
Chr2:2q24.3 |
benign |
| NM_001165963.4(SCN1A):c.3689T>C (p.Leu1230Pro) |
single nucleotide variant |
Early infantile epileptic encephalopathy with suppression bursts [RCV000804796] |
Chr2:166013760 [GRCh38]
Chr2:166870270 [GRCh37]
Chr2:2q24.3 |
pathogenic|uncertain significance |
| NM_001165963.4(SCN1A):c.473+164G>A |
single nucleotide variant |
not provided [RCV000828334] |
Chr2:166056247 [GRCh38]
Chr2:166912757 [GRCh37]
Chr2:2q24.3 |
benign |
| NM_001165963.4(SCN1A):c.2044-168A>T |
single nucleotide variant |
not provided [RCV000828338] |
Chr2:166042592 [GRCh38]
Chr2:166899102 [GRCh37]
Chr2:2q24.3 |
benign |
| NM_001165963.4(SCN1A):c.1840_1852delinsGATTCCTTGTTTGTGCACTCAGGT (p.His614fs) |
indel |
Early infantile epileptic encephalopathy with suppression bursts [RCV000814820] |
Chr2:166043860..166043872 [GRCh38]
Chr2:166900370..166900382 [GRCh37]
Chr2:2q24.3 |
pathogenic |
| NM_001165963.4(SCN1A):c.3635_3636delinsA (p.Phe1212fs) |
indel |
Early infantile epileptic encephalopathy with suppression bursts [RCV000798537] |
Chr2:166013813..166013814 [GRCh38]
Chr2:166870323..166870324 [GRCh37]
Chr2:2q24.3 |
pathogenic |
| NM_001165963.4(SCN1A):c.2170G>C (p.Val724Leu) |
single nucleotide variant |
Early infantile epileptic encephalopathy with suppression bursts [RCV000797254] |
Chr2:166042298 [GRCh38]
Chr2:166898808 [GRCh37]
Chr2:2q24.3 |
likely benign|uncertain significance |
| NM_001165963.4(SCN1A):c.5430G>A (p.Glu1810=) |
single nucleotide variant |
Early infantile epileptic encephalopathy with suppression bursts [RCV001308689]|not provided [RCV000997272] |
Chr2:165991845 [GRCh38]
Chr2:166848355 [GRCh37]
Chr2:2q24.3 |
likely benign|uncertain significance |
| NM_001165963.4(SCN1A):c.491T>A (p.Ile164Lys) |
single nucleotide variant |
not provided [RCV000997289] |
Chr2:166054749 [GRCh38]
Chr2:166911259 [GRCh37]
Chr2:2q24.3 |
likely pathogenic |
| NM_001165963.4(SCN1A):c.264+4A>T |
single nucleotide variant |
not provided [RCV000997292] |
Chr2:166073354 [GRCh38]
Chr2:166929864 [GRCh37]
Chr2:2q24.3 |
uncertain significance |
| NM_001165963.4(SCN1A):c.4444dup (p.Ile1482fs) |
duplication |
Early infantile epileptic encephalopathy with suppression bursts [RCV000806746] |
Chr2:165998069..165998070 [GRCh38]
Chr2:166854579..166854580 [GRCh37]
Chr2:2q24.3 |
pathogenic |
| NM_001165963.4(SCN1A):c.2495G>A (p.Trp832Ter) |
single nucleotide variant |
Early infantile epileptic encephalopathy with suppression bursts [RCV000806866] |
Chr2:166039517 [GRCh38]
Chr2:166896027 [GRCh37]
Chr2:2q24.3 |
pathogenic |
| NM_001165963.4(SCN1A):c.640G>A (p.Ala214Thr) |
single nucleotide variant |
Early infantile epileptic encephalopathy with suppression bursts [RCV000819574] |
Chr2:166052906 [GRCh38]
Chr2:166909416 [GRCh37]
Chr2:2q24.3 |
uncertain significance |
| NM_001165963.4(SCN1A):c.1151G>C (p.Trp384Ser) |
single nucleotide variant |
Early infantile epileptic encephalopathy with suppression bursts [RCV000803142] |
Chr2:166047646 [GRCh38]
Chr2:166904156 [GRCh37]
Chr2:2q24.3 |
pathogenic|uncertain significance |
| NM_001165963.4(SCN1A):c.5288_5289delinsCCCATCTG (p.Ile1763delinsThrHisLeu) |
indel |
Early infantile epileptic encephalopathy with suppression bursts [RCV000821412] |
Chr2:165991986..165991987 [GRCh38]
Chr2:166848496..166848497 [GRCh37]
Chr2:2q24.3 |
likely pathogenic|uncertain significance |
| NM_001165963.4(SCN1A):c.5767C>A (p.Gln1923Lys) |
single nucleotide variant |
Early infantile epileptic encephalopathy with suppression bursts [RCV000806046] |
Chr2:165991508 [GRCh38]
Chr2:166848018 [GRCh37]
Chr2:2q24.3 |
likely pathogenic |
| NM_001165963.4(SCN1A):c.2518G>A (p.Val840Met) |
single nucleotide variant |
Early infantile epileptic encephalopathy with suppression bursts [RCV000801482] |
Chr2:166039494 [GRCh38]
Chr2:166896004 [GRCh37]
Chr2:2q24.3 |
uncertain significance |
| NM_001165963.4(SCN1A):c.2860G>C (p.Glu954Gln) |
single nucleotide variant |
Early infantile epileptic encephalopathy with suppression bursts [RCV000819723] |
Chr2:166037862 [GRCh38]
Chr2:166894372 [GRCh37]
Chr2:2q24.3 |
likely pathogenic|uncertain significance |
| NM_001165963.4(SCN1A):c.5651C>T (p.Ala1884Val) |
single nucleotide variant |
Early infantile epileptic encephalopathy with suppression bursts [RCV000819762] |
Chr2:165991624 [GRCh38]
Chr2:166848134 [GRCh37]
Chr2:2q24.3 |
uncertain significance |
| NM_001165963.4(SCN1A):c.2117A>T (p.Asp706Val) |
single nucleotide variant |
not provided [RCV000992878] |
Chr2:166042351 [GRCh38]
Chr2:166898861 [GRCh37]
Chr2:2q24.3 |
uncertain significance |
| NM_001165963.4(SCN1A):c.3506T>C (p.Val1169Ala) |
single nucleotide variant |
not provided [RCV000992879] |
Chr2:166015651 [GRCh38]
Chr2:166872161 [GRCh37]
Chr2:2q24.3 |
uncertain significance |
| NM_001165963.4(SCN1A):c.2020G>C (p.Asp674His) |
single nucleotide variant |
Developmental and epileptic encephalopathy, 1 [RCV000791093]|Early infantile epileptic encephalopathy with suppression bursts [RCV001036370]|Generalized epilepsy with febrile seizures plus, type 1 [RCV000791092] |
Chr2:166043692 [GRCh38]
Chr2:166900202 [GRCh37]
Chr2:2q24.3 |
likely pathogenic|uncertain significance |
| NM_001165963.4(SCN1A):c.4048G>C (p.Val1350Leu) |
single nucleotide variant |
Early infantile epileptic encephalopathy with suppression bursts [RCV000810423] |
Chr2:166002708 [GRCh38]
Chr2:166859218 [GRCh37]
Chr2:2q24.3 |
pathogenic|likely pathogenic|uncertain significance |
| NM_001165963.4(SCN1A):c.2176+44C>T |
single nucleotide variant |
not provided [RCV000832439] |
Chr2:166042248 [GRCh38]
Chr2:166898758 [GRCh37]
Chr2:2q24.3 |
likely benign |
| NM_001165963.4(SCN1A):c.384-10_384-5del |
deletion |
Early infantile epileptic encephalopathy with suppression bursts [RCV001434602] |
Chr2:166056505..166056510 [GRCh38]
Chr2:166913015..166913020 [GRCh37]
Chr2:2q24.3 |
likely benign |
| NM_001165963.4(SCN1A):c.1029-68C>T |
single nucleotide variant |
not provided [RCV000829754] |
Chr2:166047836 [GRCh38]
Chr2:166904346 [GRCh37]
Chr2:2q24.3 |
benign |
| NM_001165963.4(SCN1A):c.295_301del (p.Ile99fs) |
deletion |
Early infantile epileptic encephalopathy with suppression bursts [RCV000794151] |
Chr2:166058652..166058658 [GRCh38]
Chr2:166915162..166915168 [GRCh37]
Chr2:2q24.3 |
pathogenic |
| NM_001165963.4(SCN1A):c.1539del (p.Glu514fs) |
deletion |
Early infantile epileptic encephalopathy with suppression bursts [RCV000814479] |
Chr2:166045166 [GRCh38]
Chr2:166901676 [GRCh37]
Chr2:2q24.3 |
pathogenic |
| NM_001165963.4(SCN1A):c.2131C>T (p.Gln711Ter) |
single nucleotide variant |
Early infantile epileptic encephalopathy with suppression bursts [RCV001382871]|Severe myoclonic epilepsy in infancy [RCV000986901] |
Chr2:166042337 [GRCh38]
Chr2:166898847 [GRCh37]
Chr2:2q24.3 |
pathogenic |
| NC_000002.11:g.(?_166152314)_(167108415_?)dup |
duplication |
Early infantile epileptic encephalopathy with suppression bursts [RCV000811357]|Neuropathy, hereditary sensory and autonomic, type 2A [RCV001372278] |
Chr2:165295804..166251905 [GRCh38]
Chr2:166152314..167108415 [GRCh37]
Chr2:2q24.3 |
uncertain significance |
| NM_001165963.4(SCN1A):c.393C>G (p.Ser131Arg) |
single nucleotide variant |
Early infantile epileptic encephalopathy with suppression bursts [RCV000800238] |
Chr2:166056491 [GRCh38]
Chr2:166913001 [GRCh37]
Chr2:2q24.3 |
uncertain significance |
| NM_001165963.4(SCN1A):c.4582-27G>A |
single nucleotide variant |
not provided [RCV000834971] |
Chr2:165994443 [GRCh38]
Chr2:166850953 [GRCh37]
Chr2:2q24.3 |
likely benign |
| NM_001165963.4(SCN1A):c.4682A>G (p.Glu1561Gly) |
single nucleotide variant |
Early infantile epileptic encephalopathy with suppression bursts [RCV000816783] |
Chr2:165994316 [GRCh38]
Chr2:166850826 [GRCh37]
Chr2:2q24.3 |
likely pathogenic|uncertain significance |
| NM_001165963.4(SCN1A):c.905del (p.Gly302fs) |
deletion |
Early infantile epileptic encephalopathy with suppression bursts [RCV000803785] |
Chr2:166051778 [GRCh38]
Chr2:166908288 [GRCh37]
Chr2:2q24.3 |
pathogenic |
| NM_001165963.4(SCN1A):c.1898C>T (p.Ala633Val) |
single nucleotide variant |
Severe myoclonic epilepsy in infancy [RCV000986903] |
Chr2:166043814 [GRCh38]
Chr2:166900324 [GRCh37]
Chr2:2q24.3 |
uncertain significance |
| NM_001165963.4(SCN1A):c.3550+212G>T |
single nucleotide variant |
not provided [RCV000829669] |
Chr2:166015395 [GRCh38]
Chr2:166871905 [GRCh37]
Chr2:2q24.3 |
benign |
| NM_001165963.4(SCN1A):c.383+66T>C |
single nucleotide variant |
not provided [RCV000829752] |
Chr2:166058504 [GRCh38]
Chr2:166915014 [GRCh37]
Chr2:2q24.3 |
benign |
| NM_001165963.4(SCN1A):c.5125A>G (p.Thr1709Ala) |
single nucleotide variant |
Early infantile epileptic encephalopathy with suppression bursts [RCV000798796] |
Chr2:165992150 [GRCh38]
Chr2:166848660 [GRCh37]
Chr2:2q24.3 |
uncertain significance |
| NM_001165963.4(SCN1A):c.2486A>T (p.Gln829Leu) |
single nucleotide variant |
Early infantile epileptic encephalopathy with suppression bursts [RCV000820333]|SCN1A-related condition [RCV003413654]|not provided [RCV001508454] |
Chr2:166039526 [GRCh38]
Chr2:166896036 [GRCh37]
Chr2:2q24.3 |
uncertain significance |
| NM_001165963.4(SCN1A):c.2946+162_2946+165del |
microsatellite |
not provided [RCV000828342] |
Chr2:166037611..166037614 [GRCh38]
Chr2:166894121..166894124 [GRCh37]
Chr2:2q24.3 |
benign |
| NM_001165963.4(SCN1A):c.2177-38C>A |
single nucleotide variant |
not provided [RCV000830011] |
Chr2:166041507 [GRCh38]
Chr2:166898017 [GRCh37]
Chr2:2q24.3 |
benign |
| NM_001165963.4(SCN1A):c.1040A>G (p.Glu347Gly) |
single nucleotide variant |
Early infantile epileptic encephalopathy with suppression bursts [RCV000816908] |
Chr2:166047757 [GRCh38]
Chr2:166904267 [GRCh37]
Chr2:2q24.3 |
uncertain significance |
| NM_001165963.4(SCN1A):c.694+184G>A |
single nucleotide variant |
not provided [RCV000837004] |
Chr2:166052668 [GRCh38]
Chr2:166909178 [GRCh37]
Chr2:2q24.3 |
benign |
| NM_001165963.4(SCN1A):c.3706-146C>G |
single nucleotide variant |
not provided [RCV000837005] |
Chr2:166012428 [GRCh38]
Chr2:166868938 [GRCh37]
Chr2:2q24.3 |
likely benign |
| NM_001165963.4(SCN1A):c.4581+124C>G |
single nucleotide variant |
not provided [RCV000837030] |
Chr2:165995889 [GRCh38]
Chr2:166852399 [GRCh37]
Chr2:2q24.3 |
likely benign |
| NM_001165963.4(SCN1A):c.2043+301C>T |
single nucleotide variant |
not provided [RCV000844430] |
Chr2:166043368 [GRCh38]
Chr2:166899878 [GRCh37]
Chr2:2q24.3 |
benign |
| NM_001165963.4(SCN1A):c.2416-256C>T |
single nucleotide variant |
not provided [RCV000844434] |
Chr2:166039852 [GRCh38]
Chr2:166896362 [GRCh37]
Chr2:2q24.3 |
benign |
| NM_001165963.4(SCN1A):c.3880-338T>C |
single nucleotide variant |
not provided [RCV000844435] |
Chr2:166010179 [GRCh38]
Chr2:166866689 [GRCh37]
Chr2:2q24.3 |
benign |
| NM_001165963.4(SCN1A):c.4003-320_4003-319insAAAC |
insertion |
not provided [RCV000844437] |
Chr2:166003072..166003073 [GRCh38]
Chr2:166859582..166859583 [GRCh37]
Chr2:2q24.3 |
benign |
| NM_001165963.4(SCN1A):c.1228G>C (p.Gly410Arg) |
single nucleotide variant |
Early infantile epileptic encephalopathy with suppression bursts [RCV000792354] |
Chr2:166046919 [GRCh38]
Chr2:166903429 [GRCh37]
Chr2:2q24.3 |
uncertain significance |
| NM_001165963.4(SCN1A):c.3104_3110del (p.Gln1035fs) |
deletion |
Early infantile epileptic encephalopathy with suppression bursts [RCV000808946] |
Chr2:166036367..166036373 [GRCh38]
Chr2:166892877..166892883 [GRCh37]
Chr2:2q24.3 |
pathogenic |
| NM_001165963.4(SCN1A):c.4581+173_4581+176del |
deletion |
not provided [RCV000833290] |
Chr2:165995837..165995840 [GRCh38]
Chr2:166852347..166852350 [GRCh37]
Chr2:2q24.3 |
benign |
| NM_001165963.4(SCN1A):c.2043+107G>A |
single nucleotide variant |
not provided [RCV000835352] |
Chr2:166043562 [GRCh38]
Chr2:166900072 [GRCh37]
Chr2:2q24.3 |
benign |
| NM_001165963.4(SCN1A):c.5978T>C (p.Ile1993Thr) |
single nucleotide variant |
Early infantile epileptic encephalopathy with suppression bursts [RCV000818688]|Seizure [RCV001281561] |
Chr2:165991297 [GRCh38]
Chr2:166847807 [GRCh37]
Chr2:2q24.3 |
uncertain significance |
| NM_001165963.4(SCN1A):c.474-113T>C |
single nucleotide variant |
not provided [RCV000835408] |
Chr2:166054879 [GRCh38]
Chr2:166911389 [GRCh37]
Chr2:2q24.3 |
benign |
| NM_001165963.4(SCN1A):c.265-226T>C |
single nucleotide variant |
not provided [RCV000837248] |
Chr2:166058914 [GRCh38]
Chr2:166915424 [GRCh37]
Chr2:2q24.3 |
likely benign |
| NM_001165963.4(SCN1A):c.4556C>G (p.Pro1519Arg) |
single nucleotide variant |
Early infantile epileptic encephalopathy with suppression bursts [RCV000820559] |
Chr2:165996038 [GRCh38]
Chr2:166852548 [GRCh37]
Chr2:2q24.3 |
likely pathogenic|uncertain significance |
| NM_001165963.4(SCN1A):c.2611A>G (p.Lys871Glu) |
single nucleotide variant |
Early infantile epileptic encephalopathy with suppression bursts [RCV000820677] |
Chr2:166038111 [GRCh38]
Chr2:166894621 [GRCh37]
Chr2:2q24.3 |
uncertain significance |
| NM_001165963.4(SCN1A):c.4852+1G>T |
single nucleotide variant |
Early infantile epileptic encephalopathy with suppression bursts [RCV000808951] |
Chr2:165994145 [GRCh38]
Chr2:166850655 [GRCh37]
Chr2:2q24.3 |
pathogenic|likely pathogenic |
| NM_001165963.4(SCN1A):c.5117A>G (p.Asn1706Ser) |
single nucleotide variant |
not provided [RCV000992881] |
Chr2:165992158 [GRCh38]
Chr2:166848668 [GRCh37]
Chr2:2q24.3 |
uncertain significance |
| NM_001165963.4(SCN1A):c.1170+75C>A |
single nucleotide variant |
not provided [RCV000830010] |
Chr2:166047552 [GRCh38]
Chr2:166904062 [GRCh37]
Chr2:2q24.3 |
benign |
| NM_001165963.4(SCN1A):c.371T>G (p.Ile124Ser) |
single nucleotide variant |
Early infantile epileptic encephalopathy with suppression bursts [RCV000799108] |
Chr2:166058582 [GRCh38]
Chr2:166915092 [GRCh37]
Chr2:2q24.3 |
uncertain significance |
| NM_001165963.4(SCN1A):c.3550+2T>C |
single nucleotide variant |
Early infantile epileptic encephalopathy with suppression bursts [RCV000815834] |
Chr2:166015605 [GRCh38]
Chr2:166872115 [GRCh37]
Chr2:2q24.3 |
pathogenic |
| NM_001165963.4(SCN1A):c.964+116A>T |
single nucleotide variant |
not provided [RCV000834335] |
Chr2:166051603 [GRCh38]
Chr2:166908113 [GRCh37]
Chr2:2q24.3 |
benign |
| NM_001165963.4(SCN1A):c.603-242T>C |
single nucleotide variant |
not provided [RCV000828335] |
Chr2:166053185 [GRCh38]
Chr2:166909695 [GRCh37]
Chr2:2q24.3 |
benign |
| NM_001165963.4(SCN1A):c.965-215T>C |
single nucleotide variant |
not provided [RCV000828336] |
Chr2:166049164 [GRCh38]
Chr2:166905674 [GRCh37]
Chr2:2q24.3 |
benign |
| NM_001165963.4(SCN1A):c.1028G>C (p.Gly343Ala) |
single nucleotide variant |
Early infantile epileptic encephalopathy with suppression bursts [RCV000803742] |
Chr2:166048886 [GRCh38]
Chr2:166905396 [GRCh37]
Chr2:2q24.3 |
likely pathogenic |
| NM_001165963.4(SCN1A):c.1170+5G>A |
single nucleotide variant |
Early infantile epileptic encephalopathy with suppression bursts [RCV000800334] |
Chr2:166047622 [GRCh38]
Chr2:166904132 [GRCh37]
Chr2:2q24.3 |
pathogenic|uncertain significance |
| NM_001165963.4(SCN1A):c.932A>G (p.Glu311Gly) |
single nucleotide variant |
Early infantile epileptic encephalopathy with suppression bursts [RCV000813042] |
Chr2:166051751 [GRCh38]
Chr2:166908261 [GRCh37]
Chr2:2q24.3 |
likely benign|uncertain significance |
| NM_001165963.4(SCN1A):c.4409G>A (p.Gly1470Glu) |
single nucleotide variant |
Early infantile epileptic encephalopathy with suppression bursts [RCV000803849]|Severe myoclonic epilepsy in infancy [RCV001089688] |
Chr2:165998105 [GRCh38]
Chr2:166854615 [GRCh37]
Chr2:2q24.3 |
uncertain significance |
| NM_001165963.4(SCN1A):c.3929G>A (p.Gly1310Glu) |
single nucleotide variant |
Early infantile epileptic encephalopathy with suppression bursts [RCV000822869] |
Chr2:166009792 [GRCh38]
Chr2:166866302 [GRCh37]
Chr2:2q24.3 |
pathogenic|likely pathogenic|uncertain significance |
| NM_001165963.4(SCN1A):c.958G>T (p.Asp320Tyr) |
single nucleotide variant |
Early infantile epileptic encephalopathy with suppression bursts [RCV000822889] |
Chr2:166051725 [GRCh38]
Chr2:166908235 [GRCh37]
Chr2:2q24.3 |
uncertain significance |
| NM_001165963.4(SCN1A):c.266C>T (p.Thr89Ile) |
single nucleotide variant |
Early infantile epileptic encephalopathy with suppression bursts [RCV000813210] |
Chr2:166058687 [GRCh38]
Chr2:166915197 [GRCh37]
Chr2:2q24.3 |
uncertain significance |
| NM_001165963.4(SCN1A):c.2729A>T (p.Gln910Leu) |
single nucleotide variant |
Early infantile epileptic encephalopathy with suppression bursts [RCV000806987] |
Chr2:166037993 [GRCh38]
Chr2:166894503 [GRCh37]
Chr2:2q24.3 |
pathogenic|likely pathogenic |
| NM_001165963.4(SCN1A):c.638C>T (p.Ser213Leu) |
single nucleotide variant |
Early infantile epileptic encephalopathy with suppression bursts [RCV000823411]|Inborn genetic diseases [RCV002363173]|not provided [RCV001585765] |
Chr2:166052908 [GRCh38]
Chr2:166909418 [GRCh37]
Chr2:2q24.3 |
likely benign|uncertain significance |
| NM_001165963.4(SCN1A):c.713G>T (p.Gly238Val) |
single nucleotide variant |
Early infantile epileptic encephalopathy with suppression bursts [RCV000801256] |
Chr2:166051970 [GRCh38]
Chr2:166908480 [GRCh37]
Chr2:2q24.3 |
uncertain significance |
| NM_001165963.4(SCN1A):c.4955G>A (p.Gly1652Glu) |
single nucleotide variant |
Early infantile epileptic encephalopathy with suppression bursts [RCV000804506] |
Chr2:165992320 [GRCh38]
Chr2:166848830 [GRCh37]
Chr2:2q24.3 |
uncertain significance |
| NM_001165963.4(SCN1A):c.4177_4180delinsTG (p.His1393fs) |
indel |
Early infantile epileptic encephalopathy with suppression bursts [RCV000797535] |
Chr2:166002576..166002579 [GRCh38]
Chr2:166859086..166859089 [GRCh37]
Chr2:2q24.3 |
pathogenic |
| NM_001165963.4(SCN1A):c.811_815dup (p.Asn272fs) |
duplication |
Early infantile epileptic encephalopathy with suppression bursts [RCV000797563]|not provided [RCV001008855] |
Chr2:166051867..166051868 [GRCh38]
Chr2:166908377..166908378 [GRCh37]
Chr2:2q24.3 |
pathogenic |
| NM_001165963.4(SCN1A):c.2947-125G>T |
single nucleotide variant |
not provided [RCV000832229] |
Chr2:166036655 [GRCh38]
Chr2:166893165 [GRCh37]
Chr2:2q24.3 |
likely benign |
| NM_001165963.4(SCN1A):c.2802G>A (p.Met934Ile) |
single nucleotide variant |
Early infantile epileptic encephalopathy with suppression bursts [RCV000823725] |
Chr2:166037920 [GRCh38]
Chr2:166894430 [GRCh37]
Chr2:2q24.3 |
pathogenic |
| NM_001165963.4(SCN1A):c.253A>G (p.Ile85Val) |
single nucleotide variant |
Early infantile epileptic encephalopathy with suppression bursts [RCV000808158] |
Chr2:166073369 [GRCh38]
Chr2:166929879 [GRCh37]
Chr2:2q24.3 |
uncertain significance |
| NM_001165963.4(SCN1A):c.964+1G>A |
single nucleotide variant |
Early infantile epileptic encephalopathy with suppression bursts [RCV000808196] |
Chr2:166051718 [GRCh38]
Chr2:166908228 [GRCh37]
Chr2:2q24.3 |
pathogenic|likely pathogenic |
| NM_001165963.4(SCN1A):c.2579C>A (p.Ser860Ter) |
single nucleotide variant |
Early infantile epileptic encephalopathy with suppression bursts [RCV000818091]|Seizure [RCV002463740] |
Chr2:166039433 [GRCh38]
Chr2:166895943 [GRCh37]
Chr2:2q24.3 |
pathogenic |
| NM_001165963.4(SCN1A):c.746A>G (p.Asp249Gly) |
single nucleotide variant |
Early infantile epileptic encephalopathy with suppression bursts [RCV000818172] |
Chr2:166051937 [GRCh38]
Chr2:166908447 [GRCh37]
Chr2:2q24.3 |
likely pathogenic|uncertain significance |
| NC_000002.12:g.166036537A>C |
single nucleotide variant |
not provided [RCV000840211] |
Chr2:166893047 [GRCh37]
Chr2:2q24.3 |
likely benign |
| NM_001165963.4(SCN1A):c.4111G>T (p.Gly1371Cys) |
single nucleotide variant |
Early infantile epileptic encephalopathy with suppression bursts [RCV000798720]|not provided [RCV003141788] |
Chr2:166002645 [GRCh38]
Chr2:166859155 [GRCh37]
Chr2:2q24.3 |
uncertain significance |
| NM_001165963.4(SCN1A):c.2589+221_2589+224del |
deletion |
not provided [RCV000831973] |
Chr2:166039199..166039202 [GRCh38]
Chr2:166895709..166895712 [GRCh37]
Chr2:2q24.3 |
benign |
| NM_001165963.4(SCN1A):c.2393_2411del (p.Asn798fs) |
deletion |
Early infantile epileptic encephalopathy with suppression bursts [RCV000802708] |
Chr2:166041235..166041253 [GRCh38]
Chr2:166897745..166897763 [GRCh37]
Chr2:2q24.3 |
pathogenic |
| NM_001165963.4(SCN1A):c.4810T>C (p.Trp1604Arg) |
single nucleotide variant |
not provided [RCV000997274] |
Chr2:165994188 [GRCh38]
Chr2:166850698 [GRCh37]
Chr2:2q24.3 |
uncertain significance |
| NM_001165963.4(SCN1A):c.1479T>A (p.Ser493Arg) |
single nucleotide variant |
Early infantile epileptic encephalopathy with suppression bursts [RCV001858857]|not provided [RCV000997282] |
Chr2:166045226 [GRCh38]
Chr2:166901736 [GRCh37]
Chr2:2q24.3 |
uncertain significance |
| NM_001165963.4(SCN1A):c.1377+52G>A |
single nucleotide variant |
not provided [RCV000829755] |
Chr2:166046718 [GRCh38]
Chr2:166903228 [GRCh37]
Chr2:2q24.3 |
benign |
| NM_001165963.4(SCN1A):c.4853-223dup |
duplication |
not provided [RCV000829672] |
Chr2:165992644..165992645 [GRCh38]
Chr2:166849154..166849155 [GRCh37]
Chr2:2q24.3 |
benign |
| NM_001165963.4(SCN1A):c.*1325G>A |
single nucleotide variant |
Generalized epilepsy with febrile seizures plus, type 2 [RCV001136243]|Migraine, familial hemiplegic, 3 [RCV001136244] |
Chr2:165989920 [GRCh38]
Chr2:166846430 [GRCh37]
Chr2:2q24.3 |
uncertain significance |
| NM_001165963.4(SCN1A):c.4220G>A (p.Arg1407Gln) |
single nucleotide variant |
Early infantile epileptic encephalopathy with suppression bursts [RCV001873524]|Generalized epilepsy with febrile seizures plus, type 2 [RCV001132201]|Migraine, familial hemiplegic, 3 [RCV001132200] |
Chr2:166002536 [GRCh38]
Chr2:166859046 [GRCh37]
Chr2:2q24.3 |
uncertain significance |
| NC_000002.12:g.166048865A>G |
single nucleotide variant |
not provided [RCV000829753] |
Chr2:166905375 [GRCh37]
Chr2:2q24.3 |
benign |
| NM_001165963.4(SCN1A):c.1663-47T>G |
single nucleotide variant |
not provided [RCV000829756] |
Chr2:166044096 [GRCh38]
Chr2:166900606 [GRCh37]
Chr2:2q24.3 |
benign |
| NM_001165963.4(SCN1A):c.2946+56A>G |
single nucleotide variant |
not provided [RCV000829777] |
Chr2:166037720 [GRCh38]
Chr2:166894230 [GRCh37]
Chr2:2q24.3 |
benign |
| NM_001165963.4(SCN1A):c.5488_5489del (p.Gln1830fs) |
deletion |
Early infantile epileptic encephalopathy with suppression bursts [RCV001066562] |
Chr2:165991786..165991787 [GRCh38]
Chr2:166848296..166848297 [GRCh37]
Chr2:2q24.3 |
pathogenic |
| NM_001165963.4(SCN1A):c.474-310A>G |
single nucleotide variant |
not provided [RCV000827941] |
Chr2:166055076 [GRCh38]
Chr2:166911586 [GRCh37]
Chr2:2q24.3 |
benign |
| NM_001165963.4(SCN1A):c.*774G>A |
single nucleotide variant |
Generalized epilepsy with febrile seizures plus, type 2 [RCV001136358]|Migraine, familial hemiplegic, 3 [RCV001136359]|not provided [RCV003438664] |
Chr2:165990471 [GRCh38]
Chr2:166846981 [GRCh37]
Chr2:2q24.3 |
likely benign|uncertain significance |
| NM_001165963.4(SCN1A):c.*677G>A |
single nucleotide variant |
Generalized epilepsy with febrile seizures plus, type 2 [RCV001136361]|Migraine, familial hemiplegic, 3 [RCV001136362]|not provided [RCV003438665] |
Chr2:165990568 [GRCh38]
Chr2:166847078 [GRCh37]
Chr2:2q24.3 |
benign|likely benign|uncertain significance |
| NM_001165963.4(SCN1A):c.2946+77A>G |
single nucleotide variant |
not provided [RCV000829950] |
Chr2:166037699 [GRCh38]
Chr2:166894209 [GRCh37]
Chr2:2q24.3 |
likely benign |
| NM_001165963.4(SCN1A):c.242A>G (p.Asp81Gly) |
single nucleotide variant |
Early infantile epileptic encephalopathy with suppression bursts [RCV001379829]|Severe myoclonic epilepsy in infancy [RCV001030755] |
Chr2:166073380 [GRCh38]
Chr2:166929890 [GRCh37]
Chr2:2q24.3 |
likely pathogenic|uncertain significance |
| NM_001165963.4(SCN1A):c.265-137G>T |
single nucleotide variant |
not provided [RCV000828332] |
Chr2:166058825 [GRCh38]
Chr2:166915335 [GRCh37]
Chr2:2q24.3 |
benign |
| NM_001165963.4(SCN1A):c.2416-181A>C |
single nucleotide variant |
not provided [RCV000828339] |
Chr2:166039777 [GRCh38]
Chr2:166896287 [GRCh37]
Chr2:2q24.3 |
benign |
| NC_000002.12:g.(?_166009699)_(166015748_?)del |
deletion |
Early infantile epileptic encephalopathy with suppression bursts [RCV001032030] |
Chr2:166866209..166872258 [GRCh37]
Chr2:2q24.3 |
pathogenic |
| NM_001165963.4(SCN1A):c.5901C>A (p.Asn1967Lys) |
single nucleotide variant |
Generalized epilepsy with febrile seizures plus, type 2 [RCV001133023]|Migraine, familial hemiplegic, 3 [RCV001133024] |
Chr2:165991374 [GRCh38]
Chr2:166847884 [GRCh37]
Chr2:2q24.3 |
uncertain significance |
| NC_000002.12:g.(?_165090130)_(166286643_?)del |
deletion |
Early infantile epileptic encephalopathy with suppression bursts [RCV000808624]|Neuropathy, hereditary sensory and autonomic, type 2A [RCV001387894] |
Chr2:165090130..166286643 [GRCh38]
Chr2:165946640..167143153 [GRCh37]
Chr2:2q24.3 |
pathogenic |
| GRCh37/hg19 2q24.3(chr2:166680709-166947043)x1 |
copy number loss |
not provided [RCV000846478] |
Chr2:166680709..166947043 [GRCh37]
Chr2:2q24.3 |
pathogenic |
| NM_001165963.4(SCN1A):c.3401G>A (p.Ser1134Asn) |
single nucleotide variant |
Early infantile epileptic encephalopathy with suppression bursts [RCV000812118] |
Chr2:166036076 [GRCh38]
Chr2:166892586 [GRCh37]
Chr2:2q24.3 |
uncertain significance |
| NM_001165963.4(SCN1A):c.673A>G (p.Lys225Glu) |
single nucleotide variant |
Early infantile epileptic encephalopathy with suppression bursts [RCV000806441] |
Chr2:166052873 [GRCh38]
Chr2:166909383 [GRCh37]
Chr2:2q24.3 |
likely pathogenic |
| NM_001165963.4(SCN1A):c.2903G>A (p.Cys968Tyr) |
single nucleotide variant |
Early infantile epileptic encephalopathy with suppression bursts [RCV001067689] |
Chr2:166037819 [GRCh38]
Chr2:166894329 [GRCh37]
Chr2:2q24.3 |
pathogenic|uncertain significance |
| NM_001165963.4(SCN1A):c.1049T>A (p.Met350Lys) |
single nucleotide variant |
Early infantile epileptic encephalopathy with suppression bursts [RCV000795921] |
Chr2:166047748 [GRCh38]
Chr2:166904258 [GRCh37]
Chr2:2q24.3 |
uncertain significance |
| NM_001165963.4(SCN1A):c.2975T>C (p.Leu992Pro) |
single nucleotide variant |
Severe myoclonic epilepsy in infancy [RCV001095667] |
Chr2:166036502 [GRCh38]
Chr2:166893012 [GRCh37]
Chr2:2q24.3 |
likely pathogenic |
| NM_001165963.4(SCN1A):c.942G>T (p.Trp314Cys) |
single nucleotide variant |
Severe myoclonic epilepsy in infancy [RCV000986910] |
Chr2:166051741 [GRCh38]
Chr2:166908251 [GRCh37]
Chr2:2q24.3 |
likely pathogenic |
| NM_001165963.4(SCN1A):c.207del (p.Pro70fs) |
deletion |
Severe myoclonic epilepsy in infancy [RCV000986920] |
Chr2:166073415 [GRCh38]
Chr2:166929925 [GRCh37]
Chr2:2q24.3 |
pathogenic |
| NM_001165963.4(SCN1A):c.3627_3630del (p.Arg1209fs) |
deletion |
not provided [RCV001091669] |
Chr2:166013819..166013822 [GRCh38]
Chr2:166870329..166870332 [GRCh37]
Chr2:2q24.3 |
pathogenic |
| NM_001165963.4(SCN1A):c.4401C>A (p.Ile1467=) |
single nucleotide variant |
not provided [RCV001091660] |
Chr2:165998113 [GRCh38]
Chr2:166854623 [GRCh37]
Chr2:2q24.3 |
likely benign |
| GRCh37/hg19 2q24.3(chr2:166915080-166915198)x1 |
copy number loss |
not provided [RCV001091278] |
Chr2:166915080..166915198 [GRCh37]
Chr2:2q24.3 |
pathogenic |
| NM_001165963.4(SCN1A):c.4853-271T>C |
single nucleotide variant |
not provided [RCV000828926] |
Chr2:165992693 [GRCh38]
Chr2:166849203 [GRCh37]
Chr2:2q24.3 |
benign |
| NM_001165963.4(SCN1A):c.3717dup (p.Ile1240fs) |
duplication |
not provided [RCV001091666] |
Chr2:166012270..166012271 [GRCh38]
Chr2:166868780..166868781 [GRCh37]
Chr2:2q24.3 |
pathogenic |
| NM_001165963.4(SCN1A):c.264+4_264+7del |
microsatellite |
Early infantile epileptic encephalopathy with suppression bursts [RCV000810298]|Severe myoclonic epilepsy in infancy [RCV001528183]|not provided [RCV003482316] |
Chr2:166073351..166073354 [GRCh38]
Chr2:166929861..166929864 [GRCh37]
Chr2:2q24.3 |
pathogenic|likely pathogenic |
| NM_001165963.4(SCN1A):c.964+424_2022del |
deletion |
Early infantile epileptic encephalopathy with suppression bursts [RCV000799732] |
Chr2:166043690..166051295 [GRCh38]
Chr2:166900200..166907805 [GRCh37]
Chr2:2q24.3 |
pathogenic |
| NM_001165963.4(SCN1A):c.3880-305del |
deletion |
not provided [RCV000828914] |
Chr2:166010146 [GRCh38]
Chr2:166866656 [GRCh37]
Chr2:2q24.3 |
benign |
| NM_001165963.4(SCN1A):c.4133A>T (p.Asn1378Ile) |
single nucleotide variant |
Migraine, familial hemiplegic, 3 [RCV000850510] |
Chr2:166002623 [GRCh38]
Chr2:166859133 [GRCh37]
Chr2:2q24.3 |
likely pathogenic |
| NM_001165963.4(SCN1A):c.474-333T>G |
single nucleotide variant |
not provided [RCV000827992] |
Chr2:166055099 [GRCh38]
Chr2:166911609 [GRCh37]
Chr2:2q24.3 |
likely benign |
| NM_001165963.4(SCN1A):c.2143A>C (p.Ser715Arg) |
single nucleotide variant |
Early infantile epileptic encephalopathy with suppression bursts [RCV000812180] |
Chr2:166042325 [GRCh38]
Chr2:166898835 [GRCh37]
Chr2:2q24.3 |
uncertain significance |
| NM_001165963.4(SCN1A):c.1663-278C>T |
single nucleotide variant |
not provided [RCV000830379] |
Chr2:166044327 [GRCh38]
Chr2:166900837 [GRCh37]
Chr2:2q24.3 |
likely benign |
| NM_001165963.4(SCN1A):c.3629C>T (p.Thr1210Met) |
single nucleotide variant |
Early infantile epileptic encephalopathy with suppression bursts [RCV000814810]|Inborn genetic diseases [RCV002453849] |
Chr2:166013820 [GRCh38]
Chr2:166870330 [GRCh37]
Chr2:2q24.3 |
likely pathogenic|uncertain significance |
| NM_001165963.4(SCN1A):c.383+185T>C |
single nucleotide variant |
not provided [RCV000828333] |
Chr2:166058385 [GRCh38]
Chr2:166914895 [GRCh37]
Chr2:2q24.3 |
benign |
| NM_001165963.4(SCN1A):c.2589+172T>C |
single nucleotide variant |
not provided [RCV000828340] |
Chr2:166039251 [GRCh38]
Chr2:166895761 [GRCh37]
Chr2:2q24.3 |
benign |
| NM_001165963.4(SCN1A):c.2589+208A>G |
single nucleotide variant |
not provided [RCV000828341] |
Chr2:166039215 [GRCh38]
Chr2:166895725 [GRCh37]
Chr2:2q24.3 |
benign |
| NM_001165963.4(SCN1A):c.1426del (p.Ala476fs) |
deletion |
Early infantile epileptic encephalopathy with suppression bursts [RCV000795934] |
Chr2:166045279 [GRCh38]
Chr2:166901789 [GRCh37]
Chr2:2q24.3 |
pathogenic |
| NM_001165963.4(SCN1A):c.5990A>G (p.His1997Arg) |
single nucleotide variant |
Early infantile epileptic encephalopathy with suppression bursts [RCV000818256] |
Chr2:165991285 [GRCh38]
Chr2:166847795 [GRCh37]
Chr2:2q24.3 |
likely benign|uncertain significance |
| NM_001165963.4(SCN1A):c.4159A>G (p.Ile1387Val) |
single nucleotide variant |
Early infantile epileptic encephalopathy with suppression bursts [RCV000824524]|not provided [RCV003226985] |
Chr2:166002597 [GRCh38]
Chr2:166859107 [GRCh37]
Chr2:2q24.3 |
likely benign|uncertain significance |
| NM_001165963.4(SCN1A):c.2343T>C (p.Asn781=) |
single nucleotide variant |
Early infantile epileptic encephalopathy with suppression bursts [RCV003753159]|not provided [RCV000828536] |
Chr2:166041303 [GRCh38]
Chr2:166897813 [GRCh37]
Chr2:2q24.3 |
likely benign |
| NM_001165963.4(SCN1A):c.1566dup (p.Ser523fs) |
duplication |
Early infantile epileptic encephalopathy with suppression bursts [RCV000798725] |
Chr2:166045138..166045139 [GRCh38]
Chr2:166901648..166901649 [GRCh37]
Chr2:2q24.3 |
pathogenic |
| NM_001165963.4(SCN1A):c.3161T>G (p.Leu1054Arg) |
single nucleotide variant |
Early infantile epileptic encephalopathy with suppression bursts [RCV000805375]|Inborn genetic diseases [RCV002325563]|not provided [RCV001280748] |
Chr2:166036316 [GRCh38]
Chr2:166892826 [GRCh37]
Chr2:2q24.3 |
uncertain significance |
| NM_001165963.4(SCN1A):c.3229_3262dup (p.Thr1088fs) |
duplication |
Early infantile epileptic encephalopathy with suppression bursts [RCV000796174] |
Chr2:166036214..166036215 [GRCh38]
Chr2:166892724..166892725 [GRCh37]
Chr2:2q24.3 |
pathogenic |
| NM_001165963.4(SCN1A):c.1029-177C>T |
single nucleotide variant |
not provided [RCV000836953] |
Chr2:166047945 [GRCh38]
Chr2:166904455 [GRCh37]
Chr2:2q24.3 |
benign |
| NM_001165963.4(SCN1A):c.3429+216C>G |
single nucleotide variant |
not provided [RCV000836988] |
Chr2:166035832 [GRCh38]
Chr2:166892342 [GRCh37]
Chr2:2q24.3 |
benign |
| NM_001165963.4(SCN1A):c.226C>T (p.Pro76Ser) |
single nucleotide variant |
Early infantile epileptic encephalopathy with suppression bursts [RCV000805529] |
Chr2:166073396 [GRCh38]
Chr2:166929906 [GRCh37]
Chr2:2q24.3 |
uncertain significance |
| NM_001165963.4(SCN1A):c.5962C>T (p.Arg1988Trp) |
single nucleotide variant |
Early infantile epileptic encephalopathy with suppression bursts [RCV000810745]|See cases [RCV002252246]|not provided [RCV002264001] |
Chr2:165991313 [GRCh38]
Chr2:166847823 [GRCh37]
Chr2:2q24.3 |
conflicting interpretations of pathogenicity|uncertain significance |
| NM_001165963.4(SCN1A):c.4925G>T (p.Arg1642Met) |
single nucleotide variant |
Early infantile epileptic encephalopathy with suppression bursts [RCV000815477] |
Chr2:165992350 [GRCh38]
Chr2:166848860 [GRCh37]
Chr2:2q24.3 |
pathogenic|uncertain significance |
| NM_001165963.4(SCN1A):c.964+41T>A |
single nucleotide variant |
not provided [RCV000833771] |
Chr2:166051678 [GRCh38]
Chr2:166908188 [GRCh37]
Chr2:2q24.3 |
benign |
| NM_001165963.4(SCN1A):c.964+185T>A |
single nucleotide variant |
not provided [RCV000837176] |
Chr2:166051534 [GRCh38]
Chr2:166908044 [GRCh37]
Chr2:2q24.3 |
likely benign |
| NM_001165963.4(SCN1A):c.3669C>T (p.Phe1223=) |
single nucleotide variant |
Early infantile epileptic encephalopathy with suppression bursts [RCV001481410] |
Chr2:166013780 [GRCh38]
Chr2:166870290 [GRCh37]
Chr2:2q24.3 |
likely benign |
| NM_001165963.4(SCN1A):c.248A>G (p.Tyr83Cys) |
single nucleotide variant |
Early infantile epileptic encephalopathy with suppression bursts [RCV000796600] |
Chr2:166073374 [GRCh38]
Chr2:166929884 [GRCh37]
Chr2:2q24.3 |
pathogenic|uncertain significance |
| NM_001165963.4(SCN1A):c.5639G>C (p.Gly1880Ala) |
single nucleotide variant |
Early infantile epileptic encephalopathy with suppression bursts [RCV000799453] |
Chr2:165991636 [GRCh38]
Chr2:166848146 [GRCh37]
Chr2:2q24.3 |
uncertain significance |
| NM_001165963.4(SCN1A):c.5225A>C (p.Asp1742Ala) |
single nucleotide variant |
Early infantile epileptic encephalopathy with suppression bursts [RCV000822742] |
Chr2:165992050 [GRCh38]
Chr2:166848560 [GRCh37]
Chr2:2q24.3 |
uncertain significance |
| NM_001165963.4(SCN1A):c.5452G>A (p.Asp1818Asn) |
single nucleotide variant |
Early infantile epileptic encephalopathy with suppression bursts [RCV000791481]|Inborn genetic diseases [RCV002535844]|not provided [RCV001772042] |
Chr2:165991823 [GRCh38]
Chr2:166848333 [GRCh37]
Chr2:2q24.3 |
uncertain significance |
| NM_001165963.4(SCN1A):c.32C>A (p.Pro11His) |
single nucleotide variant |
Early infantile epileptic encephalopathy with suppression bursts [RCV000791708]|not provided [RCV001355130] |
Chr2:166073590 [GRCh38]
Chr2:166930100 [GRCh37]
Chr2:2q24.3 |
uncertain significance |
| NM_001165963.4(SCN1A):c.603-106G>T |
single nucleotide variant |
not provided [RCV000834267] |
Chr2:166053049 [GRCh38]
Chr2:166909559 [GRCh37]
Chr2:2q24.3 |
benign |
| NM_001165963.4(SCN1A):c.965-113A>T |
single nucleotide variant |
not provided [RCV000834268] |
Chr2:166049062 [GRCh38]
Chr2:166905572 [GRCh37]
Chr2:2q24.3 |
benign |
| NM_001165963.4(SCN1A):c.2589+114T>C |
single nucleotide variant |
not provided [RCV000834270] |
Chr2:166039309 [GRCh38]
Chr2:166895819 [GRCh37]
Chr2:2q24.3 |
benign |
| NM_001165963.4(SCN1A):c.3785_3797del (p.Ile1262fs) |
deletion |
Early infantile epileptic encephalopathy with suppression bursts [RCV000816143] |
Chr2:166012191..166012203 [GRCh38]
Chr2:166868701..166868713 [GRCh37]
Chr2:2q24.3 |
pathogenic |
| NM_001165963.4(SCN1A):c.694+258G>A |
single nucleotide variant |
not provided [RCV000844419] |
Chr2:166052594 [GRCh38]
Chr2:166909104 [GRCh37]
Chr2:2q24.3 |
benign |
| NM_001165963.4(SCN1A):c.964+258G>A |
single nucleotide variant |
not provided [RCV000844420] |
Chr2:166051461 [GRCh38]
Chr2:166907971 [GRCh37]
Chr2:2q24.3 |
benign |
| NM_001165963.4(SCN1A):c.1171-270G>T |
single nucleotide variant |
not provided [RCV000844421] |
Chr2:166047246 [GRCh38]
Chr2:166903756 [GRCh37]
Chr2:2q24.3 |
benign |
| NM_001165963.4(SCN1A):c.1378-266T>A |
single nucleotide variant |
not provided [RCV000844422] |
Chr2:166045593 [GRCh38]
Chr2:166902103 [GRCh37]
Chr2:2q24.3 |
benign |
| NM_001165963.4(SCN1A):c.2177-270A>G |
single nucleotide variant |
not provided [RCV000844431] |
Chr2:166041739 [GRCh38]
Chr2:166898249 [GRCh37]
Chr2:2q24.3 |
benign |
| NM_001165963.4(SCN1A):c.3890T>G (p.Val1297Gly) |
single nucleotide variant |
Early infantile epileptic encephalopathy with suppression bursts [RCV000819559] |
Chr2:166009831 [GRCh38]
Chr2:166866341 [GRCh37]
Chr2:2q24.3 |
uncertain significance |
| NM_001165963.4(SCN1A):c.2838C>T (p.Arg946=) |
single nucleotide variant |
Early infantile epileptic encephalopathy with suppression bursts [RCV001473166]|Generalized epilepsy with febrile seizures plus, type 2 [RCV001133247]|Migraine, familial hemiplegic, 3 [RCV001133246]|not provided [RCV000861427] |
Chr2:166037884 [GRCh38]
Chr2:166894394 [GRCh37]
Chr2:2q24.3 |
likely benign|uncertain significance |
| NM_001165963.4(SCN1A):c.4003-5A>G |
single nucleotide variant |
not provided [RCV000918158] |
Chr2:166002758 [GRCh38]
Chr2:166859268 [GRCh37]
Chr2:2q24.3 |
likely benign |
| NM_001165963.4(SCN1A):c.777C>T (p.Ser259=) |
single nucleotide variant |
Early infantile epileptic encephalopathy with suppression bursts [RCV001436268]|not provided [RCV000875063] |
Chr2:166051906 [GRCh38]
Chr2:166908416 [GRCh37]
Chr2:2q24.3 |
likely benign |
| NM_001165963.4(SCN1A):c.4095C>T (p.Gly1365=) |
single nucleotide variant |
Early infantile epileptic encephalopathy with suppression bursts [RCV001445654]|Generalized epilepsy with febrile seizures plus, type 2 [RCV001132203]|Migraine, familial hemiplegic, 3 [RCV001132202]|not provided [RCV000831426] |
Chr2:166002661 [GRCh38]
Chr2:166859171 [GRCh37]
Chr2:2q24.3 |
likely benign|uncertain significance |
| NM_001165963.4(SCN1A):c.3812G>A (p.Trp1271Ter) |
single nucleotide variant |
Early infantile epileptic encephalopathy with suppression bursts [RCV000816654] |
Chr2:166012176 [GRCh38]
Chr2:166868686 [GRCh37]
Chr2:2q24.3 |
pathogenic |
| NM_001165963.4(SCN1A):c.846C>A (p.Pro282=) |
single nucleotide variant |
Early infantile epileptic encephalopathy with suppression bursts [RCV001444809]|not provided [RCV000875207] |
Chr2:166051837 [GRCh38]
Chr2:166908347 [GRCh37]
Chr2:2q24.3 |
likely benign |
| NM_001165963.4(SCN1A):c.5632_5634delinsAAT (p.Glu1878Asn) |
indel |
Early infantile epileptic encephalopathy with suppression bursts [RCV000803746]|not provided [RCV000841512] |
Chr2:165991641..165991643 [GRCh38]
Chr2:166848151..166848153 [GRCh37]
Chr2:2q24.3 |
likely benign|uncertain significance |
| NM_001165963.4(SCN1A):c.964+199T>G |
single nucleotide variant |
not provided [RCV000831972] |
Chr2:166051520 [GRCh38]
Chr2:166908030 [GRCh37]
Chr2:2q24.3 |
benign |
| NM_001165963.4(SCN1A):c.1278C>A (p.Tyr426Ter) |
single nucleotide variant |
Early infantile epileptic encephalopathy with suppression bursts [RCV000816991] |
Chr2:166046869 [GRCh38]
Chr2:166903379 [GRCh37]
Chr2:2q24.3 |
pathogenic |
| NM_001165963.4(SCN1A):c.1028+112C>A |
single nucleotide variant |
not provided [RCV000835277] |
Chr2:166048774 [GRCh38]
Chr2:166905284 [GRCh37]
Chr2:2q24.3 |
benign |
| NM_001165963.4(SCN1A):c.4269_4272del (p.Ser1424fs) |
microsatellite |
Early infantile epileptic encephalopathy with suppression bursts [RCV000820266] |
Chr2:166002484..166002487 [GRCh38]
Chr2:166858994..166858997 [GRCh37]
Chr2:2q24.3 |
pathogenic |
| NM_001165963.4(SCN1A):c.4582-110C>T |
single nucleotide variant |
not provided [RCV000835409] |
Chr2:165994526 [GRCh38]
Chr2:166851036 [GRCh37]
Chr2:2q24.3 |
benign |
| NM_001165963.4(SCN1A):c.964+104_964+110del |
deletion |
not provided [RCV000835303] |
Chr2:166051609..166051615 [GRCh38]
Chr2:166908119..166908125 [GRCh37]
Chr2:2q24.3 |
benign |
| NM_001165963.4(SCN1A):c.3718_3729del (p.Ile1240_Asp1243del) |
deletion |
Early infantile epileptic encephalopathy with suppression bursts [RCV000797770]|Global developmental delay [RCV001255048]|Inborn genetic diseases [RCV002345764] |
Chr2:166012259..166012270 [GRCh38]
Chr2:166868769..166868780 [GRCh37]
Chr2:2q24.3 |
pathogenic|uncertain significance |
| NM_001165963.4(SCN1A):c.4801A>G (p.Thr1601Ala) |
single nucleotide variant |
Early infantile epileptic encephalopathy with suppression bursts [RCV000823434]|Generalized epilepsy with febrile seizures plus, type 2 [RCV003106077] |
Chr2:165994197 [GRCh38]
Chr2:166850707 [GRCh37]
Chr2:2q24.3 |
uncertain significance |
| NM_001165963.4(SCN1A):c.118G>A (p.Asp40Asn) |
single nucleotide variant |
Early infantile epileptic encephalopathy with suppression bursts [RCV000793046] |
Chr2:166073504 [GRCh38]
Chr2:166930014 [GRCh37]
Chr2:2q24.3 |
likely benign|uncertain significance |
| NC_000002.12:g.(?_165090130)_(166311776_?)del |
deletion |
Early infantile epileptic encephalopathy with suppression bursts [RCV000807258]|Neuropathy, hereditary sensory and autonomic, type 2A [RCV003117597]|Seizures, benign familial infantile, 3 [RCV003106069]|not provided [RCV003106068] |
Chr2:165090130..166311776 [GRCh38]
Chr2:165946640..167168286 [GRCh37]
Chr2:2q24.3 |
pathogenic|uncertain significance|no classifications from unflagged records |
| NM_001165963.4(SCN1A):c.4033C>T (p.Pro1345Ser) |
single nucleotide variant |
Developmental and epileptic encephalopathy 6B [RCV001420538]|Early infantile epileptic encephalopathy with suppression bursts [RCV000814237] |
Chr2:166002723 [GRCh38]
Chr2:166859233 [GRCh37]
Chr2:2q24.3 |
pathogenic|likely pathogenic |
| NM_001165963.4(SCN1A):c.5656C>A (p.Arg1886=) |
single nucleotide variant |
Early infantile epileptic encephalopathy with suppression bursts [RCV001393361]|Generalized epilepsy with febrile seizures plus, type 2 [RCV001136460]|Migraine, familial hemiplegic, 3 [RCV001136461]|not provided [RCV000842353] |
Chr2:165991619 [GRCh38]
Chr2:166848129 [GRCh37]
Chr2:2q24.3 |
likely benign|uncertain significance |
| NM_001165963.4(SCN1A):c.4477-338T>A |
single nucleotide variant |
not provided [RCV000827953] |
Chr2:165996455 [GRCh38]
Chr2:166852965 [GRCh37]
Chr2:2q24.3 |
benign |
| NM_001165963.4(SCN1A):c.725A>T (p.Gln242Leu) |
single nucleotide variant |
Early infantile epileptic encephalopathy with suppression bursts [RCV000812030] |
Chr2:166051958 [GRCh38]
Chr2:166908468 [GRCh37]
Chr2:2q24.3 |
uncertain significance |
| NM_001165963.4(SCN1A):c.692C>T (p.Pro231Leu) |
single nucleotide variant |
Early infantile epileptic encephalopathy with suppression bursts [RCV000804622] |
Chr2:166052854 [GRCh38]
Chr2:166909364 [GRCh37]
Chr2:2q24.3 |
uncertain significance |
| NM_001165963.4(SCN1A):c.3372T>G (p.Phe1124Leu) |
single nucleotide variant |
Early infantile epileptic encephalopathy with suppression bursts [RCV001067614] |
Chr2:166036105 [GRCh38]
Chr2:166892615 [GRCh37]
Chr2:2q24.3 |
likely benign|uncertain significance |
| NM_001165963.4(SCN1A):c.5157A>C (p.Gln1719His) |
single nucleotide variant |
Early infantile epileptic encephalopathy with suppression bursts [RCV001046061] |
Chr2:165992118 [GRCh38]
Chr2:166848628 [GRCh37]
Chr2:2q24.3 |
pathogenic|uncertain significance |
| NM_001165963.4(SCN1A):c.5691T>G (p.Asn1897Lys) |
single nucleotide variant |
Generalized epilepsy with febrile seizures plus, type 2 [RCV001262255]|Seizure [RCV002275267]|not provided [RCV001090358] |
Chr2:165991584 [GRCh38]
Chr2:166848094 [GRCh37]
Chr2:2q24.3 |
uncertain significance |
| NM_001165963.4(SCN1A):c.533T>C (p.Phe178Ser) |
single nucleotide variant |
Early infantile epileptic encephalopathy with suppression bursts [RCV001046412] |
Chr2:166054707 [GRCh38]
Chr2:166911217 [GRCh37]
Chr2:2q24.3 |
uncertain significance |
| NM_001165963.4(SCN1A):c.3351del (p.Ile1117fs) |
deletion |
not provided [RCV001092109] |
Chr2:166036126 [GRCh38]
Chr2:166892636 [GRCh37]
Chr2:2q24.3 |
pathogenic |
| NC_000002.12:g.(?_166052832)_(166053034_?)del |
deletion |
Early infantile epileptic encephalopathy with suppression bursts [RCV001032291] |
Chr2:166909342..166909544 [GRCh37]
Chr2:2q24.3 |
pathogenic |
| NM_001165963.4(SCN1A):c.3538T>G (p.Cys1180Gly) |
single nucleotide variant |
not provided [RCV000997277] |
Chr2:166015619 [GRCh38]
Chr2:166872129 [GRCh37]
Chr2:2q24.3 |
uncertain significance |
| NM_001165963.4(SCN1A):c.1271T>C (p.Met424Thr) |
single nucleotide variant |
Early infantile epileptic encephalopathy with suppression bursts [RCV001061197]|Inborn genetic diseases [RCV002372718]|not provided [RCV000997284] |
Chr2:166046876 [GRCh38]
Chr2:166903386 [GRCh37]
Chr2:2q24.3 |
pathogenic|uncertain significance |
| NM_001165963.4(SCN1A):c.746A>T (p.Asp249Val) |
single nucleotide variant |
not provided [RCV000992883] |
Chr2:166051937 [GRCh38]
Chr2:166908447 [GRCh37]
Chr2:2q24.3 |
uncertain significance |
| NM_001165963.4(SCN1A):c.2371C>G (p.Pro791Ala) |
single nucleotide variant |
Early infantile epileptic encephalopathy with suppression bursts [RCV001046814] |
Chr2:166041275 [GRCh38]
Chr2:166897785 [GRCh37]
Chr2:2q24.3 |
uncertain significance |
| NM_001165963.4(SCN1A):c.3569dup (p.Cys1191fs) |
duplication |
not provided [RCV001091671] |
Chr2:166013879..166013880 [GRCh38]
Chr2:166870389..166870390 [GRCh37]
Chr2:2q24.3 |
pathogenic |
| NM_001165963.4(SCN1A):c.2240T>C (p.Ile747Thr) |
single nucleotide variant |
Early infantile epileptic encephalopathy with suppression bursts [RCV001362140]|not provided [RCV001092115] |
Chr2:166041406 [GRCh38]
Chr2:166897916 [GRCh37]
Chr2:2q24.3 |
pathogenic|conflicting interpretations of pathogenicity|uncertain significance |
| NM_001165963.4(SCN1A):c.384-1C>T |
single nucleotide variant |
Early infantile epileptic encephalopathy with suppression bursts [RCV001045316] |
Chr2:166056501 [GRCh38]
Chr2:166913011 [GRCh37]
Chr2:2q24.3 |
uncertain significance |
| NM_001165963.4(SCN1A):c.5443T>C (p.Phe1815Leu) |
single nucleotide variant |
Early infantile epileptic encephalopathy with suppression bursts [RCV001045336] |
Chr2:165991832 [GRCh38]
Chr2:166848342 [GRCh37]
Chr2:2q24.3 |
likely pathogenic|uncertain significance |
| NM_001165963.4(SCN1A):c.2852A>G (p.Glu951Gly) |
single nucleotide variant |
not provided [RCV000997279] |
Chr2:166037870 [GRCh38]
Chr2:166894380 [GRCh37]
Chr2:2q24.3 |
uncertain significance |
| NM_001165963.4(SCN1A):c.416T>G (p.Leu139Trp) |
single nucleotide variant |
Early infantile epileptic encephalopathy with suppression bursts [RCV001050027]|not provided [RCV000997291] |
Chr2:166056468 [GRCh38]
Chr2:166912978 [GRCh37]
Chr2:2q24.3 |
likely pathogenic|uncertain significance |
| NM_001165963.4(SCN1A):c.4170G>C (p.Val1390=) |
single nucleotide variant |
Early infantile epileptic encephalopathy with suppression bursts [RCV001473366] |
Chr2:166002586 [GRCh38]
Chr2:166859096 [GRCh37]
Chr2:2q24.3 |
likely benign |
| GRCh37/hg19 2q24.3(chr2:166338194-167854823)x3 |
copy number gain |
not provided [RCV001005353] |
Chr2:166338194..167854823 [GRCh37]
Chr2:2q24.3 |
uncertain significance |
| GRCh37/hg19 2q24.3(chr2:166727672-167372934)x3 |
copy number gain |
not provided [RCV000849819] |
Chr2:166727672..167372934 [GRCh37]
Chr2:2q24.3 |
uncertain significance |
| NM_001165963.4(SCN1A):c.4704T>A (p.Tyr1568Ter) |
single nucleotide variant |
Severe myoclonic epilepsy in infancy [RCV000986875] |
Chr2:165994294 [GRCh38]
Chr2:166850804 [GRCh37]
Chr2:2q24.3 |
pathogenic |
| NM_001165963.4(SCN1A):c.4003-14C>T |
single nucleotide variant |
Severe myoclonic epilepsy in infancy [RCV000986883] |
Chr2:166002767 [GRCh38]
Chr2:166859277 [GRCh37]
Chr2:2q24.3 |
likely benign |
| NM_001165963.4(SCN1A):c.5489_5490insAA (p.Phe1831fs) |
insertion |
not provided [RCV001008231] |
Chr2:165991785..165991786 [GRCh38]
Chr2:166848295..166848296 [GRCh37]
Chr2:2q24.3 |
likely pathogenic |
| NM_001165963.4(SCN1A):c.4013_4015dup (p.Asn1338_Ala1339insAsp) |
duplication |
Early infantile epileptic encephalopathy with suppression bursts [RCV001043551] |
Chr2:166002740..166002741 [GRCh38]
Chr2:166859250..166859251 [GRCh37]
Chr2:2q24.3 |
pathogenic |
| NM_001165963.4(SCN1A):c.1028+1G>A |
single nucleotide variant |
Seizure [RCV002275232]|Severe myoclonic epilepsy in infancy [RCV000986908] |
Chr2:166048885 [GRCh38]
Chr2:166905395 [GRCh37]
Chr2:2q24.3 |
pathogenic|likely pathogenic |
| NM_001165963.4(SCN1A):c.830G>A (p.Cys277Tyr) |
single nucleotide variant |
Early infantile epileptic encephalopathy with suppression bursts [RCV001338678]|Severe myoclonic epilepsy in infancy [RCV000986911] |
Chr2:166051853 [GRCh38]
Chr2:166908363 [GRCh37]
Chr2:2q24.3 |
likely pathogenic|uncertain significance |
| NM_001165963.4(SCN1A):c.684del (p.Val229fs) |
deletion |
Severe myoclonic epilepsy in infancy [RCV000986913] |
Chr2:166052862 [GRCh38]
Chr2:166909372 [GRCh37]
Chr2:2q24.3 |
pathogenic |
| NM_001165963.4(SCN1A):c.635T>C (p.Val212Ala) |
single nucleotide variant |
Severe myoclonic epilepsy in infancy [RCV000986915] |
Chr2:166052911 [GRCh38]
Chr2:166909421 [GRCh37]
Chr2:2q24.3 |
uncertain significance |
| NM_001165963.4(SCN1A):c.184_187del (p.Pro62fs) |
deletion |
Early infantile epileptic encephalopathy with suppression bursts [RCV001043257] |
Chr2:166073435..166073438 [GRCh38]
Chr2:166929945..166929948 [GRCh37]
Chr2:2q24.3 |
pathogenic |
| NM_001165963.4(SCN1A):c.3517dup (p.Glu1173fs) |
duplication |
Early infantile epileptic encephalopathy with suppression bursts [RCV001065621] |
Chr2:166015639..166015640 [GRCh38]
Chr2:166872149..166872150 [GRCh37]
Chr2:2q24.3 |
pathogenic |
| NM_001165963.4(SCN1A):c.1377+2T>C |
single nucleotide variant |
Early infantile epileptic encephalopathy with suppression bursts [RCV001066067] |
Chr2:166046768 [GRCh38]
Chr2:166903278 [GRCh37]
Chr2:2q24.3 |
pathogenic|likely pathogenic |
| NM_001165963.4(SCN1A):c.*1297G>A |
single nucleotide variant |
Generalized epilepsy with febrile seizures plus, type 2 [RCV001129267]|Migraine, familial hemiplegic, 3 [RCV001129268] |
Chr2:165989948 [GRCh38]
Chr2:166846458 [GRCh37]
Chr2:2q24.3 |
uncertain significance |
| NM_001165963.4(SCN1A):c.4565del (p.Pro1522fs) |
deletion |
Early infantile epileptic encephalopathy with suppression bursts [RCV001229483] |
Chr2:165996029 [GRCh38]
Chr2:166852539 [GRCh37]
Chr2:2q24.3 |
pathogenic |
| NM_001165963.4(SCN1A):c.1060G>C (p.Ala354Pro) |
single nucleotide variant |
Early infantile epileptic encephalopathy with suppression bursts [RCV001219108]|Severe myoclonic epilepsy in infancy [RCV001194611] |
Chr2:166047737 [GRCh38]
Chr2:166904247 [GRCh37]
Chr2:2q24.3 |
pathogenic|uncertain significance |
| NM_001165963.4(SCN1A):c.257A>G (p.Asn86Ser) |
single nucleotide variant |
Early infantile epileptic encephalopathy with suppression bursts [RCV001231119]|Inborn genetic diseases [RCV002451545] |
Chr2:166073365 [GRCh38]
Chr2:166929875 [GRCh37]
Chr2:2q24.3 |
uncertain significance |
| NC_000002.12:g.(?_165090130)_(166204484_?)del |
deletion |
Early infantile epileptic encephalopathy with suppression bursts [RCV001031030] |
Chr2:165946640..167060994 [GRCh37]
Chr2:2q24.3 |
pathogenic |
| NM_001165963.4(SCN1A):c.4862T>C (p.Leu1621Pro) |
single nucleotide variant |
Early infantile epileptic encephalopathy with suppression bursts [RCV001206932]|Severe myoclonic epilepsy in infancy [RCV000986872] |
Chr2:165992413 [GRCh38]
Chr2:166848923 [GRCh37]
Chr2:2q24.3 |
pathogenic|likely pathogenic |
| NM_001165963.4(SCN1A):c.4327G>A (p.Asp1443Asn) |
single nucleotide variant |
Severe myoclonic epilepsy in infancy [RCV000986880] |
Chr2:165999734 [GRCh38]
Chr2:166856244 [GRCh37]
Chr2:2q24.3 |
likely pathogenic|conflicting interpretations of pathogenicity |
| NM_001165963.4(SCN1A):c.4003-1G>A |
single nucleotide variant |
Early infantile epileptic encephalopathy with suppression bursts [RCV001869341]|Severe myoclonic epilepsy in infancy [RCV000986882] |
Chr2:166002754 [GRCh38]
Chr2:166859264 [GRCh37]
Chr2:2q24.3 |
pathogenic|likely pathogenic |
| NM_001165963.4(SCN1A):c.3757_3763dup (p.Ala1255fs) |
duplication |
Severe myoclonic epilepsy in infancy [RCV000986885] |
Chr2:166012224..166012225 [GRCh38]
Chr2:166868734..166868735 [GRCh37]
Chr2:2q24.3 |
pathogenic |
| NM_001165963.4(SCN1A):c.3429+1G>T |
single nucleotide variant |
Early infantile epileptic encephalopathy with suppression bursts [RCV002549674]|Severe myoclonic epilepsy in infancy [RCV000986892]|not provided [RCV001593162] |
Chr2:166036047 [GRCh38]
Chr2:166892557 [GRCh37]
Chr2:2q24.3 |
pathogenic|likely pathogenic |
| NM_001165963.4(SCN1A):c.2686G>A (p.Val896Ile) |
single nucleotide variant |
Early infantile epileptic encephalopathy with suppression bursts [RCV001204733]|Severe myoclonic epilepsy in infancy [RCV000986896]|not provided [RCV002298811] |
Chr2:166038036 [GRCh38]
Chr2:166894546 [GRCh37]
Chr2:2q24.3 |
pathogenic|likely pathogenic|uncertain significance |
| GRCh37/hg19 2q24.2-34(chr2:163233162-211927188)x3 |
copy number gain |
not provided [RCV001005349] |
Chr2:163233162..211927188 [GRCh37]
Chr2:2q24.2-34 |
pathogenic |
| NM_001165963.4(SCN1A):c.2012T>C (p.Val671Ala) |
single nucleotide variant |
Seizure [RCV002275196]|Severe myoclonic epilepsy in infancy [RCV000986902] |
Chr2:166043700 [GRCh38]
Chr2:166900210 [GRCh37]
Chr2:2q24.3 |
uncertain significance |
| NM_001165963.4(SCN1A):c.683C>T (p.Ser228Leu) |
single nucleotide variant |
Severe myoclonic epilepsy in infancy [RCV000986914] |
Chr2:166052863 [GRCh38]
Chr2:166909373 [GRCh37]
Chr2:2q24.3 |
likely pathogenic |
| NM_001165963.4(SCN1A):c.384-12A>C |
single nucleotide variant |
Severe myoclonic epilepsy in infancy [RCV000986917] |
Chr2:166056512 [GRCh38]
Chr2:166913022 [GRCh37]
Chr2:2q24.3 |
likely pathogenic |
| NM_001165963.4(SCN1A):c.310_312del (p.Ala104del) |
deletion |
not provided [RCV001171719] |
Chr2:166058641..166058643 [GRCh38]
Chr2:166915151..166915153 [GRCh37]
Chr2:2q24.3 |
uncertain significance |
| NM_001165963.4(SCN1A):c.4372del (p.Tyr1458fs) |
deletion |
Early infantile epileptic encephalopathy with suppression bursts [RCV001211935] |
Chr2:165998142 [GRCh38]
Chr2:166854652 [GRCh37]
Chr2:2q24.3 |
pathogenic |
| NM_001165963.4(SCN1A):c.2650G>C (p.Gly884Arg) |
single nucleotide variant |
Early infantile epileptic encephalopathy with suppression bursts [RCV001202541] |
Chr2:166038072 [GRCh38]
Chr2:166894582 [GRCh37]
Chr2:2q24.3 |
uncertain significance |
| NM_001165963.4(SCN1A):c.5022C>T (p.Gly1674=) |
single nucleotide variant |
Early infantile epileptic encephalopathy with suppression bursts [RCV001474960]|not provided [RCV001171716] |
Chr2:165992253 [GRCh38]
Chr2:166848763 [GRCh37]
Chr2:2q24.3 |
likely benign |
| NC_000002.12:g.(?_166042272)_(166044069_?)del |
deletion |
Early infantile epileptic encephalopathy with suppression bursts [RCV001032105] |
Chr2:166898782..166900579 [GRCh37]
Chr2:2q24.3 |
pathogenic |
| NM_001165963.4(SCN1A):c.1028+2T>C |
single nucleotide variant |
Early infantile epileptic encephalopathy with suppression bursts [RCV001385213]|Migraine, familial hemiplegic, 3 [RCV001199340] |
Chr2:166048884 [GRCh38]
Chr2:166905394 [GRCh37]
Chr2:2q24.3 |
pathogenic |
| NM_001165963.4(SCN1A):c.474-1G>A |
single nucleotide variant |
Early infantile epileptic encephalopathy with suppression bursts [RCV001215571]|Severe myoclonic epilepsy in infancy [RCV003313993] |
Chr2:166054767 [GRCh38]
Chr2:166911277 [GRCh37]
Chr2:2q24.3 |
pathogenic |
| NM_001165963.4(SCN1A):c.2044-1G>A |
single nucleotide variant |
Early infantile epileptic encephalopathy with suppression bursts [RCV001233124] |
Chr2:166042425 [GRCh38]
Chr2:166898935 [GRCh37]
Chr2:2q24.3 |
pathogenic |
| NM_001165963.4(SCN1A):c.4031T>C (p.Ile1344Thr) |
single nucleotide variant |
Early infantile epileptic encephalopathy with suppression bursts [RCV001210469] |
Chr2:166002725 [GRCh38]
Chr2:166859235 [GRCh37]
Chr2:2q24.3 |
uncertain significance |
| NM_001165963.4(SCN1A):c.845C>A (p.Pro282His) |
single nucleotide variant |
Early infantile epileptic encephalopathy with suppression bursts [RCV001226795] |
Chr2:166051838 [GRCh38]
Chr2:166908348 [GRCh37]
Chr2:2q24.3 |
uncertain significance |
| NM_001165963.4(SCN1A):c.4051C>T (p.Leu1351Phe) |
single nucleotide variant |
Early infantile epileptic encephalopathy with suppression bursts [RCV001226832] |
Chr2:166002705 [GRCh38]
Chr2:166859215 [GRCh37]
Chr2:2q24.3 |
likely pathogenic|uncertain significance |
| NM_001165963.4(SCN1A):c.4531del (p.Ala1510_Met1511insTer) |
deletion |
Early infantile epileptic encephalopathy with suppression bursts [RCV001215832] |
Chr2:165996063 [GRCh38]
Chr2:166852573 [GRCh37]
Chr2:2q24.3 |
pathogenic |
| NM_001165963.4(SCN1A):c.5579A>C (p.Asp1860Ala) |
single nucleotide variant |
Early infantile epileptic encephalopathy with suppression bursts [RCV001236784] |
Chr2:165991696 [GRCh38]
Chr2:166848206 [GRCh37]
Chr2:2q24.3 |
uncertain significance |
| NM_001165963.4(SCN1A):c.2429T>A (p.Ile810Asn) |
single nucleotide variant |
Early infantile epileptic encephalopathy with suppression bursts [RCV001220233] |
Chr2:166039583 [GRCh38]
Chr2:166896093 [GRCh37]
Chr2:2q24.3 |
likely pathogenic|uncertain significance |
| NM_001165963.4(SCN1A):c.5534A>C (p.Asn1845Thr) |
single nucleotide variant |
Early infantile epileptic encephalopathy with suppression bursts [RCV001227247]|not specified [RCV002249814] |
Chr2:165991741 [GRCh38]
Chr2:166848251 [GRCh37]
Chr2:2q24.3 |
uncertain significance |
| NM_001165963.4(SCN1A):c.551C>T (p.Thr184Ile) |
single nucleotide variant |
Early infantile epileptic encephalopathy with suppression bursts [RCV001231687] |
Chr2:166054689 [GRCh38]
Chr2:166911199 [GRCh37]
Chr2:2q24.3 |
uncertain significance |
| NM_001165963.4(SCN1A):c.2681C>A (p.Thr894Asn) |
single nucleotide variant |
Early infantile epileptic encephalopathy with suppression bursts [RCV001233476] |
Chr2:166038041 [GRCh38]
Chr2:166894551 [GRCh37]
Chr2:2q24.3 |
uncertain significance |
| NM_001165963.4(SCN1A):c.5359G>C (p.Glu1787Gln) |
single nucleotide variant |
Early infantile epileptic encephalopathy with suppression bursts [RCV001237552] |
Chr2:165991916 [GRCh38]
Chr2:166848426 [GRCh37]
Chr2:2q24.3 |
uncertain significance |
| NM_001165963.4(SCN1A):c.4408G>C (p.Gly1470Arg) |
single nucleotide variant |
Early infantile epileptic encephalopathy with suppression bursts [RCV001209417] |
Chr2:165998106 [GRCh38]
Chr2:166854616 [GRCh37]
Chr2:2q24.3 |
uncertain significance |
| NM_001165963.4(SCN1A):c.1100C>T (p.Thr367Ile) |
single nucleotide variant |
Early infantile epileptic encephalopathy with suppression bursts [RCV001222801]|Seizure [RCV002275319] |
Chr2:166047697 [GRCh38]
Chr2:166904207 [GRCh37]
Chr2:2q24.3 |
uncertain significance |
| NM_001165963.4(SCN1A):c.3863A>C (p.Asp1288Ala) |
single nucleotide variant |
Early infantile epileptic encephalopathy with suppression bursts [RCV001222804] |
Chr2:166012125 [GRCh38]
Chr2:166868635 [GRCh37]
Chr2:2q24.3 |
likely pathogenic|uncertain significance |
| NM_001165963.4(SCN1A):c.5114_5115delinsGT (p.Phe1705Cys) |
indel |
Early infantile epileptic encephalopathy with suppression bursts [RCV001209180] |
Chr2:165992160..165992161 [GRCh38]
Chr2:166848670..166848671 [GRCh37]
Chr2:2q24.3 |
likely pathogenic|uncertain significance |
| NM_001165963.4(SCN1A):c.5697del (p.Lys1900fs) |
deletion |
Early infantile epileptic encephalopathy with suppression bursts [RCV001220743] |
Chr2:165991578 [GRCh38]
Chr2:166848088 [GRCh37]
Chr2:2q24.3 |
pathogenic |
| NM_001165963.4(SCN1A):c.459G>A (p.Trp153Ter) |
single nucleotide variant |
Early infantile epileptic encephalopathy with suppression bursts [RCV001224755] |
Chr2:166056425 [GRCh38]
Chr2:166912935 [GRCh37]
Chr2:2q24.3 |
pathogenic |
| NM_001165963.4(SCN1A):c.4906C>A (p.Arg1636=) |
single nucleotide variant |
Early infantile epileptic encephalopathy with suppression bursts [RCV001223047]|not provided [RCV001587249] |
Chr2:165992369 [GRCh38]
Chr2:166848879 [GRCh37]
Chr2:2q24.3 |
likely benign|uncertain significance |
| NM_001165963.4(SCN1A):c.4574G>C (p.Arg1525Pro) |
single nucleotide variant |
Early infantile epileptic encephalopathy with suppression bursts [RCV001221237] |
Chr2:165996020 [GRCh38]
Chr2:166852530 [GRCh37]
Chr2:2q24.3 |
uncertain significance |
| NM_001165963.4(SCN1A):c.1229G>T (p.Gly410Val) |
single nucleotide variant |
Early infantile epileptic encephalopathy with suppression bursts [RCV001225036] |
Chr2:166046918 [GRCh38]
Chr2:166903428 [GRCh37]
Chr2:2q24.3 |
likely pathogenic |
| NM_001165963.4(SCN1A):c.4581+1G>A |
single nucleotide variant |
Early infantile epileptic encephalopathy with suppression bursts [RCV001235040]|Generalized epilepsy with febrile seizures plus, type 2 [RCV002246223]|Severe myoclonic epilepsy in infancy [RCV002290651] |
Chr2:165996012 [GRCh38]
Chr2:166852522 [GRCh37]
Chr2:2q24.3 |
pathogenic |
| NM_001165963.4(SCN1A):c.1634_1635del (p.Thr544_Tyr545insTer) |
microsatellite |
Early infantile epileptic encephalopathy with suppression bursts [RCV001240244] |
Chr2:166045070..166045071 [GRCh38]
Chr2:166901580..166901581 [GRCh37]
Chr2:2q24.3 |
pathogenic |
| NM_001165963.4(SCN1A):c.5235A>G (p.Lys1745=) |
single nucleotide variant |
Early infantile epileptic encephalopathy with suppression bursts [RCV001237966] |
Chr2:165992040 [GRCh38]
Chr2:166848550 [GRCh37]
Chr2:2q24.3 |
uncertain significance |
| NM_001165963.4(SCN1A):c.1549G>T (p.Glu517Ter) |
single nucleotide variant |
Early infantile epileptic encephalopathy with suppression bursts [RCV001225066] |
Chr2:166045156 [GRCh38]
Chr2:166901666 [GRCh37]
Chr2:2q24.3 |
pathogenic |
| NM_001165963.4(SCN1A):c.576G>A (p.Trp192Ter) |
single nucleotide variant |
Early infantile epileptic encephalopathy with suppression bursts [RCV001240448] |
Chr2:166054664 [GRCh38]
Chr2:166911174 [GRCh37]
Chr2:2q24.3 |
pathogenic |
| NM_001165963.4(SCN1A):c.3829C>T (p.Gln1277Ter) |
single nucleotide variant |
Early infantile epileptic encephalopathy with suppression bursts [RCV001221444] |
Chr2:166012159 [GRCh38]
Chr2:166868669 [GRCh37]
Chr2:2q24.3 |
pathogenic |
| NM_001165963.4(SCN1A):c.716C>G (p.Ala239Gly) |
single nucleotide variant |
Early infantile epileptic encephalopathy with suppression bursts [RCV001210172] |
Chr2:166051967 [GRCh38]
Chr2:166908477 [GRCh37]
Chr2:2q24.3 |
pathogenic |
| NM_001165963.4(SCN1A):c.4580G>C (p.Gly1527Ala) |
single nucleotide variant |
Early infantile epileptic encephalopathy with suppression bursts [RCV001221773] |
Chr2:165996014 [GRCh38]
Chr2:166852524 [GRCh37]
Chr2:2q24.3 |
uncertain significance |
| NM_001165963.4(SCN1A):c.2627T>G (p.Leu876Ter) |
single nucleotide variant |
Early infantile epileptic encephalopathy with suppression bursts [RCV001242091] |
Chr2:166038095 [GRCh38]
Chr2:166894605 [GRCh37]
Chr2:2q24.3 |
pathogenic |
| NM_001165963.4(SCN1A):c.1049T>C (p.Met350Thr) |
single nucleotide variant |
Early infantile epileptic encephalopathy with suppression bursts [RCV001214948] |
Chr2:166047748 [GRCh38]
Chr2:166904258 [GRCh37]
Chr2:2q24.3 |
uncertain significance |
| NM_001165963.4(SCN1A):c.2869T>G (p.Trp957Gly) |
single nucleotide variant |
Early infantile epileptic encephalopathy with suppression bursts [RCV001210248] |
Chr2:166037853 [GRCh38]
Chr2:166894363 [GRCh37]
Chr2:2q24.3 |
likely pathogenic |
| NM_001165963.4(SCN1A):c.4929T>C (p.Ile1643=) |
single nucleotide variant |
not provided [RCV000997273] |
Chr2:165992346 [GRCh38]
Chr2:166848856 [GRCh37]
Chr2:2q24.3 |
likely benign |
| NM_001165963.4(SCN1A):c.2981C>T (p.Ser994Leu) |
single nucleotide variant |
not provided [RCV000997278] |
Chr2:166036496 [GRCh38]
Chr2:166893006 [GRCh37]
Chr2:2q24.3 |
likely pathogenic |
| NM_001165963.4(SCN1A):c.539T>G (p.Leu180Ter) |
single nucleotide variant |
Early infantile epileptic encephalopathy with suppression bursts [RCV002549972]|not provided [RCV000997288] |
Chr2:166054701 [GRCh38]
Chr2:166911211 [GRCh37]
Chr2:2q24.3 |
pathogenic|likely pathogenic |
| NM_001165963.4(SCN1A):c.5634G>C (p.Glu1878Asp) |
single nucleotide variant |
Developmental and epileptic encephalopathy, 6 [RCV002471045]|Early infantile epileptic encephalopathy with suppression bursts [RCV001210604]|Inborn genetic diseases [RCV002348687]|not provided [RCV003142143] |
Chr2:165991641 [GRCh38]
Chr2:166848151 [GRCh37]
Chr2:2q24.3 |
uncertain significance |
| NM_001165963.4(SCN1A):c.1121C>A (p.Ser374Tyr) |
single nucleotide variant |
Early infantile epileptic encephalopathy with suppression bursts [RCV001224562] |
Chr2:166047676 [GRCh38]
Chr2:166904186 [GRCh37]
Chr2:2q24.3 |
likely pathogenic |
| NM_001165963.4(SCN1A):c.2883_2892del (p.Glu961fs) |
deletion |
Early infantile epileptic encephalopathy with suppression bursts [RCV001241803] |
Chr2:166037830..166037839 [GRCh38]
Chr2:166894340..166894349 [GRCh37]
Chr2:2q24.3 |
pathogenic |
| NM_001165963.4(SCN1A):c.1034G>A (p.Cys345Tyr) |
single nucleotide variant |
not provided [RCV000992877] |
Chr2:166047763 [GRCh38]
Chr2:166904273 [GRCh37]
Chr2:2q24.3 |
pathogenic |
| NM_001165963.4(SCN1A):c.4476+6T>G |
single nucleotide variant |
not provided [RCV000992880] |
Chr2:165998032 [GRCh38]
Chr2:166854542 [GRCh37]
Chr2:2q24.3 |
likely pathogenic |
| NM_001165963.4(SCN1A):c.3284A>G (p.Tyr1095Cys) |
single nucleotide variant |
Early infantile epileptic encephalopathy with suppression bursts [RCV001238847] |
Chr2:166036193 [GRCh38]
Chr2:166892703 [GRCh37]
Chr2:2q24.3 |
uncertain significance |
| NM_001165963.4(SCN1A):c.4988T>C (p.Leu1663Ser) |
single nucleotide variant |
Early infantile epileptic encephalopathy with suppression bursts [RCV003588723]|Migraine, familial hemiplegic, 3 [RCV001196601] |
Chr2:165992287 [GRCh38]
Chr2:166848797 [GRCh37]
Chr2:2q24.3 |
likely pathogenic|uncertain significance |
| NM_001165963.4(SCN1A):c.4990A>C (p.Met1664Leu) |
single nucleotide variant |
not provided [RCV001200253] |
Chr2:165992285 [GRCh38]
Chr2:166848795 [GRCh37]
Chr2:2q24.3 |
pathogenic |
| NM_001165963.4(SCN1A):c.2737G>C (p.Gly913Arg) |
single nucleotide variant |
Early infantile epileptic encephalopathy with suppression bursts [RCV001232573] |
Chr2:166037985 [GRCh38]
Chr2:166894495 [GRCh37]
Chr2:2q24.3 |
uncertain significance |
| NM_001165963.4(SCN1A):c.1754G>C (p.Gly585Ala) |
single nucleotide variant |
Migraine, familial hemiplegic, 3 [RCV001198182] |
Chr2:166043958 [GRCh38]
Chr2:166900468 [GRCh37]
Chr2:2q24.3 |
likely benign |
| NM_001165963.4(SCN1A):c.2983T>C (p.Phe995Leu) |
single nucleotide variant |
Early infantile epileptic encephalopathy with suppression bursts [RCV001242378] |
Chr2:166036494 [GRCh38]
Chr2:166893004 [GRCh37]
Chr2:2q24.3 |
pathogenic |
| NM_001165963.4(SCN1A):c.3975A>C (p.Arg1325Ser) |
single nucleotide variant |
Early infantile epileptic encephalopathy with suppression bursts [RCV001215386] |
Chr2:166009746 [GRCh38]
Chr2:166866256 [GRCh37]
Chr2:2q24.3 |
uncertain significance |
| NM_001165963.4(SCN1A):c.1757C>T (p.Ser586Phe) |
single nucleotide variant |
Early infantile epileptic encephalopathy with suppression bursts [RCV001216520] |
Chr2:166043955 [GRCh38]
Chr2:166900465 [GRCh37]
Chr2:2q24.3 |
uncertain significance |
| NM_001165963.4(SCN1A):c.1839del (p.His614fs) |
deletion |
Early infantile epileptic encephalopathy with suppression bursts [RCV001233952] |
Chr2:166043873 [GRCh38]
Chr2:166900383 [GRCh37]
Chr2:2q24.3 |
pathogenic |
| NM_001165963.4(SCN1A):c.4414T>C (p.Phe1472Leu) |
single nucleotide variant |
Early infantile epileptic encephalopathy with suppression bursts [RCV001205652] |
Chr2:165998100 [GRCh38]
Chr2:166854610 [GRCh37]
Chr2:2q24.3 |
likely pathogenic |
| NM_001165963.4(SCN1A):c.2616_3206delinsAAGTTGGCAAAA (p.Trp873_Ile1069delinsSerTrpGlnAsn) |
indel |
Generalized epilepsy with febrile seizures plus, type 2 [RCV000851368] |
Chr2:166036271..166038106 [GRCh38]
Chr2:166892781..166894616 [GRCh37]
Chr2:2q24.3 |
pathogenic |
| NM_001165963.4(SCN1A):c.4953A>G (p.Lys1651=) |
single nucleotide variant |
Early infantile epileptic encephalopathy with suppression bursts [RCV003588885]|not provided [RCV003312496] |
Chr2:165992322 [GRCh38]
Chr2:166848832 [GRCh37]
Chr2:2q24.3 |
likely benign |
| NM_001165963.4(SCN1A):c.4943G>C (p.Arg1648Pro) |
single nucleotide variant |
not provided [RCV003312497] |
Chr2:165992332 [GRCh38]
Chr2:166848842 [GRCh37]
Chr2:2q24.3 |
pathogenic |
| NM_001165963.4(SCN1A):c.4428C>A (p.Asn1476Lys) |
single nucleotide variant |
Early infantile epileptic encephalopathy with suppression bursts [RCV001070314]|Severe myoclonic epilepsy in infancy [RCV000986879] |
Chr2:165998086 [GRCh38]
Chr2:166854596 [GRCh37]
Chr2:2q24.3 |
pathogenic|likely pathogenic |
| NM_001165963.4(SCN1A):c.3531_3534dup (p.Ala1179fs) |
duplication |
Severe myoclonic epilepsy in infancy [RCV000986889] |
Chr2:166015622..166015623 [GRCh38]
Chr2:166872132..166872133 [GRCh37]
Chr2:2q24.3 |
pathogenic |
| NM_001165963.4(SCN1A):c.1204T>A (p.Phe402Ile) |
single nucleotide variant |
Severe myoclonic epilepsy in infancy [RCV000986906] |
Chr2:166046943 [GRCh38]
Chr2:166903453 [GRCh37]
Chr2:2q24.3 |
likely pathogenic |
| NC_000002.12:g.166051989del |
deletion |
Severe myoclonic epilepsy in infancy [RCV000986912] |
Chr2:166051988 [GRCh38]
Chr2:166908498 [GRCh37]
Chr2:2q24.3 |
pathogenic |
| NM_001165963.4(SCN1A):c.126dup (p.Asp43fs) |
duplication |
Severe myoclonic epilepsy in infancy [RCV000986921] |
Chr2:166073495..166073496 [GRCh38]
Chr2:166930005..166930006 [GRCh37]
Chr2:2q24.3 |
pathogenic |
| NM_001165963.4(SCN1A):c.5279C>A (p.Ser1760Tyr) |
single nucleotide variant |
not provided [RCV003313331] |
Chr2:165991996 [GRCh38]
Chr2:166848506 [GRCh37]
Chr2:2q24.3 |
likely benign |
| NM_001165963.4(SCN1A):c.2066T>G (p.Met689Arg) |
single nucleotide variant |
not provided [RCV003313683] |
Chr2:166042402 [GRCh38]
Chr2:166898912 [GRCh37]
Chr2:2q24.3 |
uncertain significance |
| NM_001165963.4(SCN1A):c.*1794C>T |
single nucleotide variant |
Generalized epilepsy with febrile seizures plus, type 2 [RCV001132837]|Migraine, familial hemiplegic, 3 [RCV001132838] |
Chr2:165989451 [GRCh38]
Chr2:166845961 [GRCh37]
Chr2:2q24.3 |
uncertain significance |
| NM_001165963.4(SCN1A):c.4019T>C (p.Leu1340Pro) |
single nucleotide variant |
Migraine, familial hemiplegic, 3 [RCV001198998] |
Chr2:166002737 [GRCh38]
Chr2:166859247 [GRCh37]
Chr2:2q24.3 |
likely pathogenic |
| NM_001165963.4(SCN1A):c.345T>A (p.Asn115Lys) |
single nucleotide variant |
Early infantile epileptic encephalopathy with suppression bursts [RCV003753168]|Severe myoclonic epilepsy in infancy [RCV001249174]|Severe myoclonic epilepsy in infancy [RCV002508953] |
Chr2:166058608 [GRCh38]
Chr2:166915118 [GRCh37]
Chr2:2q24.3 |
pathogenic|not provided |
| NM_001165963.4(SCN1A):c.3305del (p.Tyr1102fs) |
deletion |
Early infantile epileptic encephalopathy with suppression bursts [RCV001229041] |
Chr2:166036172 [GRCh38]
Chr2:166892682 [GRCh37]
Chr2:2q24.3 |
pathogenic |
| NM_001165963.4(SCN1A):c.2177-10_2177-9insA |
insertion |
Migraine, familial hemiplegic, 3 [RCV001195801] |
Chr2:166041478..166041479 [GRCh38]
Chr2:166897988..166897989 [GRCh37]
Chr2:2q24.3 |
uncertain significance |
| NM_001165963.4(SCN1A):c.5341T>C (p.Tyr1781His) |
single nucleotide variant |
Early infantile epileptic encephalopathy with suppression bursts [RCV001863098]|Migraine, familial hemiplegic, 3 [RCV001195896] |
Chr2:165991934 [GRCh38]
Chr2:166848444 [GRCh37]
Chr2:2q24.3 |
pathogenic |
| NM_001165963.4(SCN1A):c.5716A>G (p.Ile1906Val) |
single nucleotide variant |
Early infantile epileptic encephalopathy with suppression bursts [RCV003769015]|not provided [RCV001090357] |
Chr2:165991559 [GRCh38]
Chr2:166848069 [GRCh37]
Chr2:2q24.3 |
uncertain significance |
| NM_001165963.4(SCN1A):c.2508C>T (p.Asp836=) |
single nucleotide variant |
Early infantile epileptic encephalopathy with suppression bursts [RCV001413466]|Generalized epilepsy with febrile seizures plus, type 2 [RCV001134706]|Migraine, familial hemiplegic, 3 [RCV001134707] |
Chr2:166039504 [GRCh38]
Chr2:166896014 [GRCh37]
Chr2:2q24.3 |
likely benign|uncertain significance |
| NM_001165963.4(SCN1A):c.4973C>A (p.Thr1658Lys) |
single nucleotide variant |
Early infantile epileptic encephalopathy with suppression bursts [RCV001043566] |
Chr2:165992302 [GRCh38]
Chr2:166848812 [GRCh37]
Chr2:2q24.3 |
pathogenic|uncertain significance |
| NM_001165963.4(SCN1A):c.3957_3958del (p.Arg1319fs) |
microsatellite |
not provided [RCV001091665] |
Chr2:166009763..166009764 [GRCh38]
Chr2:166866273..166866274 [GRCh37]
Chr2:2q24.3 |
pathogenic |
| NM_001165963.4(SCN1A):c.5869G>C (p.Glu1957Gln) |
single nucleotide variant |
Early infantile epileptic encephalopathy with suppression bursts [RCV001247682] |
Chr2:165991406 [GRCh38]
Chr2:166847916 [GRCh37]
Chr2:2q24.3 |
uncertain significance |
| NM_001165963.4(SCN1A):c.594del (p.Thr199fs) |
deletion |
not provided [RCV001092953] |
Chr2:166054646 [GRCh38]
Chr2:166911156 [GRCh37]
Chr2:2q24.3 |
pathogenic |
| NM_001165963.4(SCN1A):c.4571del (p.Pro1524fs) |
deletion |
Early infantile epileptic encephalopathy with suppression bursts [RCV001212529] |
Chr2:165996023 [GRCh38]
Chr2:166852533 [GRCh37]
Chr2:2q24.3 |
pathogenic |
| NM_001165963.4(SCN1A):c.4916G>A (p.Arg1639His) |
single nucleotide variant |
not specified [RCV003230956] |
Chr2:165992359 [GRCh38]
Chr2:166848869 [GRCh37]
Chr2:2q24.3 |
uncertain significance |
| NC_000002.11:g.(?_166894266)_(166894662_?)del |
deletion |
Early infantile epileptic encephalopathy with suppression bursts [RCV003105601] |
Chr2:166894266..166894662 [GRCh37]
Chr2:2q24.3 |
pathogenic |
| NC_000002.11:g.(?_166909342)_(166913030_?)del |
deletion |
Early infantile epileptic encephalopathy with suppression bursts [RCV003105604] |
Chr2:166909342..166913030 [GRCh37]
Chr2:2q24.3 |
pathogenic |
| NC_000002.11:g.(?_166897758)_(166901790_?)del |
deletion |
Early infantile epileptic encephalopathy with suppression bursts [RCV003105607] |
Chr2:166897758..166901790 [GRCh37]
Chr2:2q24.3 |
pathogenic |
| NC_000002.11:g.(?_166908336)_(166920943_?)del |
deletion |
Early infantile epileptic encephalopathy with suppression bursts [RCV003105608] |
Chr2:166908336..166920943 [GRCh37]
Chr2:2q24.3 |
pathogenic |
| NM_001165963.4(SCN1A):c.2713G>A (p.Ala905Thr) |
single nucleotide variant |
not provided [RCV003232024] |
Chr2:166038009 [GRCh38]
Chr2:166894519 [GRCh37]
Chr2:2q24.3 |
pathogenic |
| NM_001165963.4(SCN1A):c.5299G>T (p.Val1767Phe) |
single nucleotide variant |
Developmental and epileptic encephalopathy 6B [RCV003128166] |
Chr2:165991976 [GRCh38]
Chr2:166848486 [GRCh37]
Chr2:2q24.3 |
likely pathogenic |
| NC_000002.11:g.(?_166895913)_(167145173_?)del |
deletion |
Early infantile epileptic encephalopathy with suppression bursts [RCV003105602]|Neuropathy, hereditary sensory and autonomic, type 2A [RCV003122551] |
Chr2:166895913..167145173 [GRCh37]
Chr2:2q24.3 |
pathogenic |
| NC_000002.11:g.(?_166605291)_(166868812_?)del |
deletion |
Early infantile epileptic encephalopathy with suppression bursts [RCV003105603] |
Chr2:166605291..166868812 [GRCh37]
Chr2:2q24.3 |
pathogenic |
| NC_000002.11:g.(?_165946660)_(166894662_?)dup |
duplication |
Early infantile epileptic encephalopathy with suppression bursts [RCV003105605] |
Chr2:165946660..166894662 [GRCh37]
Chr2:2q24.3 |
uncertain significance |
| NC_000002.11:g.(?_166856213)_(166868812_?)dup |
duplication |
Early infantile epileptic encephalopathy with suppression bursts [RCV003105606] |
Chr2:166856213..166868812 [GRCh37]
Chr2:2q24.3 |
uncertain significance |
| NM_001165963.4(SCN1A):c.3999G>A (p.Met1333Ile) |
single nucleotide variant |
Developmental and epileptic encephalopathy 6B [RCV003128167] |
Chr2:166009722 [GRCh38]
Chr2:166866232 [GRCh37]
Chr2:2q24.3 |
likely pathogenic |
| NM_001165963.4(SCN1A):c.3793C>A (p.Leu1265Met) |
single nucleotide variant |
Developmental and epileptic encephalopathy 6B [RCV003128168] |
Chr2:166012195 [GRCh38]
Chr2:166868705 [GRCh37]
Chr2:2q24.3 |
likely pathogenic |
| NM_001165963.4(SCN1A):c.2589+2dup |
duplication |
Migraine, familial hemiplegic, 3 [RCV003128169] |
Chr2:166039420..166039421 [GRCh38]
Chr2:166895930..166895931 [GRCh37]
Chr2:2q24.3 |
likely pathogenic |
| NM_001165963.4(SCN1A):c.1466T>A (p.Leu489Ter) |
single nucleotide variant |
Severe myoclonic epilepsy in infancy [RCV003128170] |
Chr2:166045239 [GRCh38]
Chr2:166901749 [GRCh37]
Chr2:2q24.3 |
likely pathogenic |
| NM_001165963.4(SCN1A):c.3038_3044del (p.Gln1013fs) |
deletion |
Severe myoclonic epilepsy in infancy [RCV003128174] |
Chr2:166036433..166036439 [GRCh38]
Chr2:166892943..166892949 [GRCh37]
Chr2:2q24.3 |
likely pathogenic |
| NM_001165963.4(SCN1A):c.4002+2543A>G |
single nucleotide variant |
Severe myoclonic epilepsy in infancy [RCV003128183] |
Chr2:166007176 [GRCh38]
Chr2:166863686 [GRCh37]
Chr2:2q24.3 |
uncertain significance |
| NM_001165963.4(SCN1A):c.5158A>G (p.Ile1720Val) |
single nucleotide variant |
Severe myoclonic epilepsy in infancy [RCV003128079] |
Chr2:165992117 [GRCh38]
Chr2:166848627 [GRCh37]
Chr2:2q24.3 |
uncertain significance |
| NM_001165963.4(SCN1A):c.2843T>C (p.Leu948Pro) |
single nucleotide variant |
not provided [RCV001544885] |
Chr2:166037879 [GRCh38]
Chr2:166894389 [GRCh37]
Chr2:2q24.3 |
likely pathogenic |
| NM_001165963.4(SCN1A):c.1641G>T (p.Lys547Asn) |
single nucleotide variant |
Early infantile epileptic encephalopathy with suppression bursts [RCV002568316]|not provided [RCV001550380] |
Chr2:166045064 [GRCh38]
Chr2:166901574 [GRCh37]
Chr2:2q24.3 |
benign|uncertain significance |
| NM_001165963.4(SCN1A):c.5421G>A (p.Met1807Ile) |
single nucleotide variant |
not provided [RCV001572148] |
Chr2:165991854 [GRCh38]
Chr2:166848364 [GRCh37]
Chr2:2q24.3 |
likely pathogenic |
| NM_001165963.4(SCN1A):c.1171-25A>G |
single nucleotide variant |
not provided [RCV001569318] |
Chr2:166047001 [GRCh38]
Chr2:166903511 [GRCh37]
Chr2:2q24.3 |
likely benign |
| NM_001165963.4(SCN1A):c.4476+33G>A |
single nucleotide variant |
not provided [RCV001551827] |
Chr2:165998005 [GRCh38]
Chr2:166854515 [GRCh37]
Chr2:2q24.3 |
likely benign |
| NM_001165963.4(SCN1A):c.4074G>T (p.Trp1358Cys) |
single nucleotide variant |
not provided [RCV001548531] |
Chr2:166002682 [GRCh38]
Chr2:166859192 [GRCh37]
Chr2:2q24.3 |
likely pathogenic |
| NM_001165963.4(SCN1A):c.4476+316C>T |
single nucleotide variant |
not provided [RCV001580863] |
Chr2:165997722 [GRCh38]
Chr2:166854232 [GRCh37]
Chr2:2q24.3 |
likely benign |
| NC_000002.11:g.(?_166210682)_(167168266_?)dup |
duplication |
Neuropathy, hereditary sensory and autonomic, type 2A [RCV003113170]|Seizures, benign familial infantile, 3 [RCV003107714] |
Chr2:166210682..167168266 [GRCh37]
Chr2:2q24.3 |
uncertain significance |
| NM_001165963.4(SCN1A):c.964+12_964+15del |
deletion |
not specified [RCV003317796] |
Chr2:166051704..166051707 [GRCh38]
Chr2:166908214..166908217 [GRCh37]
Chr2:2q24.3 |
uncertain significance |
| NM_001165963.4(SCN1A):c.3030T>A (p.Asn1010Lys) |
single nucleotide variant |
Inborn genetic diseases [RCV003292980] |
Chr2:166036447 [GRCh38]
Chr2:166892957 [GRCh37]
Chr2:2q24.3 |
uncertain significance |
| NM_001165963.4(SCN1A):c.4003-69T>C |
single nucleotide variant |
not provided [RCV001678270] |
Chr2:166002822 [GRCh38]
Chr2:166859332 [GRCh37]
Chr2:2q24.3 |
benign |
| NM_001165963.4(SCN1A):c.4477-3T>A |
single nucleotide variant |
Severe myoclonic epilepsy in infancy [RCV001533454] |
Chr2:165996120 [GRCh38]
Chr2:166852630 [GRCh37]
Chr2:2q24.3 |
likely pathogenic |
| NM_001165963.4(SCN1A):c.4339-96dup |
duplication |
not provided [RCV001576149] |
Chr2:165998270..165998271 [GRCh38]
Chr2:166854780..166854781 [GRCh37]
Chr2:2q24.3 |
likely benign |
| NM_001165963.4(SCN1A):c.3862G>T (p.Asp1288Tyr) |
single nucleotide variant |
Severe myoclonic epilepsy in infancy [RCV001706948] |
Chr2:166012126 [GRCh38]
Chr2:166868636 [GRCh37]
Chr2:2q24.3 |
likely pathogenic |
| NM_001165963.4(SCN1A):c.3053G>A (p.Arg1018Lys) |
single nucleotide variant |
not provided [RCV001659106] |
Chr2:166036424 [GRCh38]
Chr2:166892934 [GRCh37]
Chr2:2q24.3 |
uncertain significance |
| NM_001165963.4(SCN1A):c.2947-12G>A |
single nucleotide variant |
Early infantile epileptic encephalopathy with suppression bursts [RCV002570728]|not provided [RCV001561150] |
Chr2:166036542 [GRCh38]
Chr2:166893052 [GRCh37]
Chr2:2q24.3 |
likely benign |
| NM_001165963.4(SCN1A):c.3429+111_3429+113del |
deletion |
not provided [RCV001717703] |
Chr2:166035935..166035937 [GRCh38]
Chr2:166892445..166892447 [GRCh37]
Chr2:2q24.3 |
benign |
| NM_001165963.4(SCN1A):c.5621G>C (p.Arg1874Pro) |
single nucleotide variant |
not provided [RCV002284662] |
Chr2:165991654 [GRCh38]
Chr2:166848164 [GRCh37]
Chr2:2q24.3 |
uncertain significance |
| NM_001165963.4(SCN1A):c.2590-239A>G |
single nucleotide variant |
not provided [RCV001669846] |
Chr2:166038371 [GRCh38]
Chr2:166894881 [GRCh37]
Chr2:2q24.3 |
benign |
| NM_001165963.4(SCN1A):c.3932C>T (p.Ala1311Val) |
single nucleotide variant |
Early infantile epileptic encephalopathy with suppression bursts [RCV001866017]|not provided [RCV001569863] |
Chr2:166009789 [GRCh38]
Chr2:166866299 [GRCh37]
Chr2:2q24.3 |
likely pathogenic|uncertain significance |
| NM_001165963.4(SCN1A):c.-49-34A>T |
single nucleotide variant |
not provided [RCV001676407] |
Chr2:166073704 [GRCh38]
Chr2:166930214 [GRCh37]
Chr2:2q24.3 |
benign |
| NM_001165963.4(SCN1A):c.2590-227A>G |
single nucleotide variant |
not provided [RCV001592335] |
Chr2:166038359 [GRCh38]
Chr2:166894869 [GRCh37]
Chr2:2q24.3 |
likely benign |
| NM_001165963.4(SCN1A):c.1522G>C (p.Glu508Gln) |
single nucleotide variant |
Early infantile epileptic encephalopathy with suppression bursts [RCV001963950] |
Chr2:166045183 [GRCh38]
Chr2:166901693 [GRCh37]
Chr2:2q24.3 |
uncertain significance |
| NM_001165963.4(SCN1A):c.4284+271T>A |
single nucleotide variant |
not provided [RCV001563243] |
Chr2:166002201 [GRCh38]
Chr2:166858711 [GRCh37]
Chr2:2q24.3 |
likely benign |
| NM_001165963.4(SCN1A):c.3820T>A (p.Tyr1274Asn) |
single nucleotide variant |
not provided [RCV001565617] |
Chr2:166012168 [GRCh38]
Chr2:166868678 [GRCh37]
Chr2:2q24.3 |
likely pathogenic |
| NM_001165963.4(SCN1A):c.4853-222A>T |
single nucleotide variant |
not provided [RCV001546730] |
Chr2:165992644 [GRCh38]
Chr2:166849154 [GRCh37]
Chr2:2q24.3 |
likely benign |
| NM_001165963.4(SCN1A):c.694+227_694+228dup |
duplication |
not provided [RCV001647847] |
Chr2:166052612..166052613 [GRCh38]
Chr2:166909122..166909123 [GRCh37]
Chr2:2q24.3 |
benign |
| NM_001165963.4(SCN1A):c.5655A>C (p.Leu1885=) |
single nucleotide variant |
Early infantile epileptic encephalopathy with suppression bursts [RCV001438518]|Inborn genetic diseases [RCV002346035] |
Chr2:165991620 [GRCh38]
Chr2:166848130 [GRCh37]
Chr2:2q24.3 |
likely benign |
| NM_001165963.4(SCN1A):c.2177-10C>T |
single nucleotide variant |
Early infantile epileptic encephalopathy with suppression bursts [RCV002539180]|not provided [RCV000874208] |
Chr2:166041479 [GRCh38]
Chr2:166897989 [GRCh37]
Chr2:2q24.3 |
benign |
| NM_001165963.4(SCN1A):c.1827T>C (p.Phe609=) |
single nucleotide variant |
Early infantile epileptic encephalopathy with suppression bursts [RCV003588689] |
Chr2:166043885 [GRCh38]
Chr2:166900395 [GRCh37]
Chr2:2q24.3 |
likely benign |
| NM_001165963.4(SCN1A):c.675G>A (p.Lys225=) |
single nucleotide variant |
Early infantile epileptic encephalopathy with suppression bursts [RCV001398419] |
Chr2:166052871 [GRCh38]
Chr2:166909381 [GRCh37]
Chr2:2q24.3 |
likely benign |
| NM_001165963.4(SCN1A):c.228C>G (p.Pro76=) |
single nucleotide variant |
Early infantile epileptic encephalopathy with suppression bursts [RCV001459917]|not provided [RCV003438534] |
Chr2:166073394 [GRCh38]
Chr2:166929904 [GRCh37]
Chr2:2q24.3 |
likely benign |
| NM_001165963.4(SCN1A):c.1350G>A (p.Gln450=) |
single nucleotide variant |
Early infantile epileptic encephalopathy with suppression bursts [RCV001409596] |
Chr2:166046797 [GRCh38]
Chr2:166903307 [GRCh37]
Chr2:2q24.3 |
likely benign |
| NM_001165963.4(SCN1A):c.4423T>G (p.Leu1475Val) |
single nucleotide variant |
Severe myoclonic epilepsy in infancy [RCV001797854] |
Chr2:165998091 [GRCh38]
Chr2:166854601 [GRCh37]
Chr2:2q24.3 |
pathogenic |
| NM_001165963.4(SCN1A):c.2499T>C (p.Asn833=) |
single nucleotide variant |
Early infantile epileptic encephalopathy with suppression bursts [RCV001393614] |
Chr2:166039513 [GRCh38]
Chr2:166896023 [GRCh37]
Chr2:2q24.3 |
likely benign |
| NM_001165963.4(SCN1A):c.2593C>A (p.Arg865=) |
single nucleotide variant |
Early infantile epileptic encephalopathy with suppression bursts [RCV001431003] |
Chr2:166038129 [GRCh38]
Chr2:166894639 [GRCh37]
Chr2:2q24.3 |
likely benign |
| NM_001165963.4(SCN1A):c.670T>C (p.Leu224=) |
single nucleotide variant |
Early infantile epileptic encephalopathy with suppression bursts [RCV001426426]|not provided [RCV000867678] |
Chr2:166052876 [GRCh38]
Chr2:166909386 [GRCh37]
Chr2:2q24.3 |
likely benign |
| NM_001165963.4(SCN1A):c.5379T>C (p.Thr1793=) |
single nucleotide variant |
Early infantile epileptic encephalopathy with suppression bursts [RCV001411710] |
Chr2:165991896 [GRCh38]
Chr2:166848406 [GRCh37]
Chr2:2q24.3 |
likely benign |
| NM_001165963.4(SCN1A):c.1932T>C (p.Thr644=) |
single nucleotide variant |
Early infantile epileptic encephalopathy with suppression bursts [RCV001462966] |
Chr2:166043780 [GRCh38]
Chr2:166900290 [GRCh37]
Chr2:2q24.3 |
likely benign |
| NM_001165963.4(SCN1A):c.4477-6C>G |
single nucleotide variant |
Early infantile epileptic encephalopathy with suppression bursts [RCV000977588] |
Chr2:165996123 [GRCh38]
Chr2:166852633 [GRCh37]
Chr2:2q24.3 |
likely benign |
| NM_001165963.4(SCN1A):c.6024G>A (p.Gly2008=) |
single nucleotide variant |
Early infantile epileptic encephalopathy with suppression bursts [RCV001419258] |
Chr2:165991251 [GRCh38]
Chr2:166847761 [GRCh37]
Chr2:2q24.3 |
likely benign |
| NM_001165963.4(SCN1A):c.5330T>C (p.Val1777Ala) |
single nucleotide variant |
Early infantile epileptic encephalopathy with suppression bursts [RCV001225930]|not provided [RCV003159190] |
Chr2:165991945 [GRCh38]
Chr2:166848455 [GRCh37]
Chr2:2q24.3 |
pathogenic|uncertain significance |
| NM_001165963.4(SCN1A):c.488G>A (p.Gly163Glu) |
single nucleotide variant |
Early infantile epileptic encephalopathy with suppression bursts [RCV001229925] |
Chr2:166054752 [GRCh38]
Chr2:166911262 [GRCh37]
Chr2:2q24.3 |
pathogenic|uncertain significance |
| NM_001165963.4(SCN1A):c.3705G>C (p.Leu1235=) |
single nucleotide variant |
Early infantile epileptic encephalopathy with suppression bursts [RCV001203357] |
Chr2:166013744 [GRCh38]
Chr2:166870254 [GRCh37]
Chr2:2q24.3 |
uncertain significance |
| NM_001165963.4(SCN1A):c.5243C>G (p.Pro1748Arg) |
single nucleotide variant |
Early infantile epileptic encephalopathy with suppression bursts [RCV001070909] |
Chr2:165992032 [GRCh38]
Chr2:166848542 [GRCh37]
Chr2:2q24.3 |
uncertain significance |
| NM_001165963.4(SCN1A):c.1879dup (p.Arg627fs) |
duplication |
Early infantile epileptic encephalopathy with suppression bursts [RCV001218729] |
Chr2:166043832..166043833 [GRCh38]
Chr2:166900342..166900343 [GRCh37]
Chr2:2q24.3 |
pathogenic |
| NM_001165963.4(SCN1A):c.1272G>A (p.Met424Ile) |
single nucleotide variant |
Early infantile epileptic encephalopathy with suppression bursts [RCV001222294] |
Chr2:166046875 [GRCh38]
Chr2:166903385 [GRCh37]
Chr2:2q24.3 |
uncertain significance |
| NM_001165963.4(SCN1A):c.5216C>G (p.Pro1739Arg) |
single nucleotide variant |
Early infantile epileptic encephalopathy with suppression bursts [RCV001049598] |
Chr2:165992059 [GRCh38]
Chr2:166848569 [GRCh37]
Chr2:2q24.3 |
uncertain significance |
| NM_001165963.4(SCN1A):c.5212_5213del (p.Pro1738fs) |
deletion |
Early infantile epileptic encephalopathy with suppression bursts [RCV001218933] |
Chr2:165992062..165992063 [GRCh38]
Chr2:166848572..166848573 [GRCh37]
Chr2:2q24.3 |
pathogenic |
| NM_001165963.4(SCN1A):c.495_496del (p.Thr166fs) |
microsatellite |
Early infantile epileptic encephalopathy with suppression bursts [RCV001226636] |
Chr2:166054744..166054745 [GRCh38]
Chr2:166911254..166911255 [GRCh37]
Chr2:2q24.3 |
pathogenic |
| NM_001165963.4(SCN1A):c.3282del (p.Lys1094fs) |
deletion |
Early infantile epileptic encephalopathy with suppression bursts [RCV001071946]|not provided [RCV002464369] |
Chr2:166036195 [GRCh38]
Chr2:166892705 [GRCh37]
Chr2:2q24.3 |
pathogenic |
| NM_001165963.4(SCN1A):c.*374T>C |
single nucleotide variant |
Generalized epilepsy with febrile seizures plus, type 2 [RCV001132089]|Migraine, familial hemiplegic, 3 [RCV001132090] |
Chr2:165990871 [GRCh38]
Chr2:166847381 [GRCh37]
Chr2:2q24.3 |
uncertain significance |
| NM_001165963.4(SCN1A):c.2006C>T (p.Pro669Leu) |
single nucleotide variant |
Early infantile epileptic encephalopathy with suppression bursts [RCV001245482]|Generalized epilepsy with febrile seizures plus, type 2 [RCV001132416]|Migraine, familial hemiplegic, 3 [RCV001132417]|not provided [RCV001759895] |
Chr2:166043706 [GRCh38]
Chr2:166900216 [GRCh37]
Chr2:2q24.3 |
uncertain significance |
| NM_001165963.4(SCN1A):c.5218G>C (p.Asp1740His) |
single nucleotide variant |
Early infantile epileptic encephalopathy with suppression bursts [RCV001208266] |
Chr2:165992057 [GRCh38]
Chr2:166848567 [GRCh37]
Chr2:2q24.3 |
likely pathogenic|uncertain significance |
| NM_001165963.4(SCN1A):c.*926C>T |
single nucleotide variant |
Generalized epilepsy with febrile seizures plus, type 2 [RCV001132922]|Migraine, familial hemiplegic, 3 [RCV001132923] |
Chr2:165990319 [GRCh38]
Chr2:166846829 [GRCh37]
Chr2:2q24.3 |
uncertain significance |
| NM_001165963.4(SCN1A):c.5306A>C (p.Tyr1769Ser) |
single nucleotide variant |
Early infantile epileptic encephalopathy with suppression bursts [RCV001236640] |
Chr2:165991969 [GRCh38]
Chr2:166848479 [GRCh37]
Chr2:2q24.3 |
uncertain significance |
| NM_001165963.4(SCN1A):c.396G>T (p.Met132Ile) |
single nucleotide variant |
Early infantile epileptic encephalopathy with suppression bursts [RCV001239912] |
Chr2:166056488 [GRCh38]
Chr2:166912998 [GRCh37]
Chr2:2q24.3 |
likely benign|uncertain significance |
| NM_001165963.4(SCN1A):c.4294A>G (p.Lys1432Glu) |
single nucleotide variant |
Early infantile epileptic encephalopathy with suppression bursts [RCV001227407]|Inborn genetic diseases [RCV002327543] |
Chr2:165999767 [GRCh38]
Chr2:166856277 [GRCh37]
Chr2:2q24.3 |
pathogenic|uncertain significance |
| NM_001165963.4(SCN1A):c.2573T>C (p.Leu858Pro) |
single nucleotide variant |
not provided [RCV001092114] |
Chr2:166039439 [GRCh38]
Chr2:166895949 [GRCh37]
Chr2:2q24.3 |
pathogenic |
| NM_001165963.4(SCN1A):c.3329G>C (p.Ser1110Thr) |
single nucleotide variant |
Early infantile epileptic encephalopathy with suppression bursts [RCV001245406]|Generalized epilepsy with febrile seizures plus, type 2 [RCV001823186]|not provided [RCV002069311] |
Chr2:166036148 [GRCh38]
Chr2:166892658 [GRCh37]
Chr2:2q24.3 |
uncertain significance |
| NM_001165963.4(SCN1A):c.1280A>C (p.Glu427Ala) |
single nucleotide variant |
not provided [RCV001092949] |
Chr2:166046867 [GRCh38]
Chr2:166903377 [GRCh37]
Chr2:2q24.3 |
uncertain significance |
| NM_001165963.4(SCN1A):c.137_165del (p.Glu46fs) |
deletion |
not provided [RCV001092956] |
Chr2:166073457..166073485 [GRCh38]
Chr2:166929967..166929995 [GRCh37]
Chr2:2q24.3 |
pathogenic |
| NM_001165963.4(SCN1A):c.3879+5G>T |
single nucleotide variant |
Early infantile epileptic encephalopathy with suppression bursts [RCV001216784]|Severe myoclonic epilepsy in infancy [RCV003339537]|not provided [RCV003142161] |
Chr2:166012104 [GRCh38]
Chr2:166868614 [GRCh37]
Chr2:2q24.3 |
likely pathogenic|uncertain significance |
| NM_001165963.4(SCN1A):c.1253T>C (p.Ile418Thr) |
single nucleotide variant |
Early infantile epileptic encephalopathy with suppression bursts [RCV001240290]|not provided [RCV001558803] |
Chr2:166046894 [GRCh38]
Chr2:166903404 [GRCh37]
Chr2:2q24.3 |
uncertain significance |
| NM_001165963.4(SCN1A):c.1285C>T (p.Gln429Ter) |
single nucleotide variant |
Early infantile epileptic encephalopathy with suppression bursts [RCV001245350] |
Chr2:166046862 [GRCh38]
Chr2:166903372 [GRCh37]
Chr2:2q24.3 |
pathogenic |
| NM_001165963.4(SCN1A):c.5414T>C (p.Phe1805Ser) |
single nucleotide variant |
Early infantile epileptic encephalopathy with suppression bursts [RCV001245542] |
Chr2:165991861 [GRCh38]
Chr2:166848371 [GRCh37]
Chr2:2q24.3 |
uncertain significance |
| NM_001165963.4(SCN1A):c.1801A>G (p.Asn601Asp) |
single nucleotide variant |
Early infantile epileptic encephalopathy with suppression bursts [RCV001043907] |
Chr2:166043911 [GRCh38]
Chr2:166900421 [GRCh37]
Chr2:2q24.3 |
uncertain significance |
| NM_001165963.4(SCN1A):c.3880G>T (p.Val1294Phe) |
single nucleotide variant |
Early infantile epileptic encephalopathy with suppression bursts [RCV001037109] |
Chr2:166009841 [GRCh38]
Chr2:166866351 [GRCh37]
Chr2:2q24.3 |
uncertain significance |
| NM_001165963.4(SCN1A):c.31C>T (p.Pro11Ser) |
single nucleotide variant |
Early infantile epileptic encephalopathy with suppression bursts [RCV001037110] |
Chr2:166073591 [GRCh38]
Chr2:166930101 [GRCh37]
Chr2:2q24.3 |
uncertain significance |
| NM_001165963.4(SCN1A):c.1579G>A (p.Asp527Asn) |
single nucleotide variant |
Early infantile epileptic encephalopathy with suppression bursts [RCV001236963] |
Chr2:166045126 [GRCh38]
Chr2:166901636 [GRCh37]
Chr2:2q24.3 |
uncertain significance |
| NM_001165963.4(SCN1A):c.2415G>T (p.Leu805Phe) |
single nucleotide variant |
Early infantile epileptic encephalopathy with suppression bursts [RCV001223975] |
Chr2:166041231 [GRCh38]
Chr2:166897741 [GRCh37]
Chr2:2q24.3 |
uncertain significance |
| NM_001165963.4(SCN1A):c.3526G>T (p.Glu1176Ter) |
single nucleotide variant |
Seizure [RCV001175166] |
Chr2:166015631 [GRCh38]
Chr2:166872141 [GRCh37]
Chr2:2q24.3 |
pathogenic |
| NM_001165963.4(SCN1A):c.4969del (p.Arg1657fs) |
deletion |
Early infantile epileptic encephalopathy with suppression bursts [RCV001220872] |
Chr2:165992306 [GRCh38]
Chr2:166848816 [GRCh37]
Chr2:2q24.3 |
pathogenic |
| NM_001165963.4(SCN1A):c.4352C>G (p.Pro1451Arg) |
single nucleotide variant |
Early infantile epileptic encephalopathy with suppression bursts [RCV001045298] |
Chr2:165998162 [GRCh38]
Chr2:166854672 [GRCh37]
Chr2:2q24.3 |
likely pathogenic|uncertain significance |
| NC_000002.12:g.(?_165295804)_(166311776_?)dup |
duplication |
Early infantile epileptic encephalopathy with suppression bursts [RCV001033512] |
Chr2:166152314..167168286 [GRCh37]
Chr2:2q24.3 |
uncertain significance |
| NM_001165963.4(SCN1A):c.5781_5782delinsTG (p.Arg1927_Arg1928delinsSerGly) |
indel |
Early infantile epileptic encephalopathy with suppression bursts [RCV001221045] |
Chr2:165991493..165991494 [GRCh38]
Chr2:166848003..166848004 [GRCh37]
Chr2:2q24.3 |
likely pathogenic |
| NM_001165963.4(SCN1A):c.115C>A (p.Pro39Thr) |
single nucleotide variant |
Early infantile epileptic encephalopathy with suppression bursts [RCV001224900] |
Chr2:166073507 [GRCh38]
Chr2:166930017 [GRCh37]
Chr2:2q24.3 |
uncertain significance |
| NM_001165963.4(SCN1A):c.2893C>T (p.Gln965Ter) |
single nucleotide variant |
Early infantile epileptic encephalopathy with suppression bursts [RCV001221323] |
Chr2:166037829 [GRCh38]
Chr2:166894339 [GRCh37]
Chr2:2q24.3 |
pathogenic |
| NM_001165963.4(SCN1A):c.3944_3945del (p.Leu1315fs) |
microsatellite |
Early infantile epileptic encephalopathy with suppression bursts [RCV001067778]|Severe myoclonic epilepsy in infancy [RCV001290253] |
Chr2:166009776..166009777 [GRCh38]
Chr2:166866286..166866287 [GRCh37]
Chr2:2q24.3 |
pathogenic |
| NM_001165963.4(SCN1A):c.4201G>A (p.Glu1401Lys) |
single nucleotide variant |
Early infantile epileptic encephalopathy with suppression bursts [RCV001217913] |
Chr2:166002555 [GRCh38]
Chr2:166859065 [GRCh37]
Chr2:2q24.3 |
uncertain significance |
| NM_001165963.4(SCN1A):c.4181_4182del (p.Thr1394fs) |
deletion |
Early infantile epileptic encephalopathy with suppression bursts [RCV001206877] |
Chr2:166002574..166002575 [GRCh38]
Chr2:166859084..166859085 [GRCh37]
Chr2:2q24.3 |
pathogenic |
| NM_001165963.4(SCN1A):c.2468A>G (p.Asp823Gly) |
single nucleotide variant |
Early infantile epileptic encephalopathy with suppression bursts [RCV001227954] |
Chr2:166039544 [GRCh38]
Chr2:166896054 [GRCh37]
Chr2:2q24.3 |
uncertain significance |
| NM_001165963.4(SCN1A):c.715_823del (p.Ala239fs) |
deletion |
Early infantile epileptic encephalopathy with suppression bursts [RCV001218209] |
Chr2:166051860..166051968 [GRCh38]
Chr2:166908370..166908478 [GRCh37]
Chr2:2q24.3 |
pathogenic |
| NM_001165963.4(SCN1A):c.3552C>T (p.Gly1184=) |
single nucleotide variant |
Early infantile epileptic encephalopathy with suppression bursts [RCV001422064] |
Chr2:166013897 [GRCh38]
Chr2:166870407 [GRCh37]
Chr2:2q24.3 |
likely benign |
| NM_001165963.4(SCN1A):c.3712G>A (p.Glu1238Lys) |
single nucleotide variant |
Early infantile epileptic encephalopathy with suppression bursts [RCV002550709]|not provided [RCV000997275] |
Chr2:166012276 [GRCh38]
Chr2:166868786 [GRCh37]
Chr2:2q24.3 |
likely pathogenic|uncertain significance |
| NM_001165963.4(SCN1A):c.3632G>A (p.Cys1211Tyr) |
single nucleotide variant |
Early infantile epileptic encephalopathy with suppression bursts [RCV001373329]|not provided [RCV000997276] |
Chr2:166013817 [GRCh38]
Chr2:166870327 [GRCh37]
Chr2:2q24.3 |
likely pathogenic|conflicting interpretations of pathogenicity|uncertain significance |
| NM_001165963.4(SCN1A):c.1546G>A (p.Asp516Asn) |
single nucleotide variant |
Early infantile epileptic encephalopathy with suppression bursts [RCV002549971]|not provided [RCV000997281] |
Chr2:166045159 [GRCh38]
Chr2:166901669 [GRCh37]
Chr2:2q24.3 |
likely benign|uncertain significance |
| NM_001165963.4(SCN1A):c.1477A>C (p.Ser493Arg) |
single nucleotide variant |
not provided [RCV000997283] |
Chr2:166045228 [GRCh38]
Chr2:166901738 [GRCh37]
Chr2:2q24.3 |
uncertain significance |
| NM_001165963.4(SCN1A):c.3311C>G (p.Ser1104Ter) |
single nucleotide variant |
Severe myoclonic epilepsy in infancy [RCV000986893] |
Chr2:166036166 [GRCh38]
Chr2:166892676 [GRCh37]
Chr2:2q24.3 |
pathogenic |
| NM_001165963.4(SCN1A):c.2691G>T (p.Leu897Phe) |
single nucleotide variant |
Severe myoclonic epilepsy in infancy [RCV000986895] |
Chr2:166038031 [GRCh38]
Chr2:166894541 [GRCh37]
Chr2:2q24.3 |
pathogenic |
| NM_001165963.4(SCN1A):c.2177-2A>T |
single nucleotide variant |
Severe myoclonic epilepsy in infancy [RCV000986899] |
Chr2:166041471 [GRCh38]
Chr2:166897981 [GRCh37]
Chr2:2q24.3 |
uncertain significance |
| NM_001165963.4(SCN1A):c.2147_2150del (p.Ile716fs) |
deletion |
Severe myoclonic epilepsy in infancy [RCV000986900] |
Chr2:166042318..166042321 [GRCh38]
Chr2:166898828..166898831 [GRCh37]
Chr2:2q24.3 |
pathogenic |
| NM_001165963.4(SCN1A):c.404T>C (p.Met135Thr) |
single nucleotide variant |
Severe myoclonic epilepsy in infancy [RCV000986916] |
Chr2:166056480 [GRCh38]
Chr2:166912990 [GRCh37]
Chr2:2q24.3 |
likely pathogenic|uncertain significance |
| NM_001165963.4(SCN1A):c.293C>T (p.Ala98Val) |
single nucleotide variant |
Early infantile epileptic encephalopathy with suppression bursts [RCV001882623]|not provided [RCV001547978] |
Chr2:166058660 [GRCh38]
Chr2:166915170 [GRCh37]
Chr2:2q24.3 |
uncertain significance |
| NM_001165963.4(SCN1A):c.2416-1G>T |
single nucleotide variant |
not provided [RCV001575073] |
Chr2:166039597 [GRCh38]
Chr2:166896107 [GRCh37]
Chr2:2q24.3 |
pathogenic |
| NM_001165963.4(SCN1A):c.4582-262GTTT[6] |
microsatellite |
not provided [RCV001661036] |
Chr2:165994651..165994654 [GRCh38]
Chr2:166851161..166851164 [GRCh37]
Chr2:2q24.3 |
benign |
| NM_001165963.4(SCN1A):c.3837T>G (p.Tyr1279Ter) |
single nucleotide variant |
Severe myoclonic epilepsy in infancy [RCV002471421] |
Chr2:166012151 [GRCh38]
Chr2:166868661 [GRCh37]
Chr2:2q24.3 |
pathogenic |
| NM_001165963.4(SCN1A):c.5495C>A (p.Ala1832Glu) |
single nucleotide variant |
not provided [RCV001548656] |
Chr2:165991780 [GRCh38]
Chr2:166848290 [GRCh37]
Chr2:2q24.3 |
likely pathogenic |
| NM_001165963.4(SCN1A):c.4907G>C (p.Arg1636Pro) |
single nucleotide variant |
Severe myoclonic epilepsy in infancy [RCV003234956] |
Chr2:165992368 [GRCh38]
Chr2:166848878 [GRCh37]
Chr2:2q24.3 |
likely pathogenic |
| NM_001165963.4(SCN1A):c.2496G>T (p.Trp832Cys) |
single nucleotide variant |
not provided [RCV001558452] |
Chr2:166039516 [GRCh38]
Chr2:166896026 [GRCh37]
Chr2:2q24.3 |
uncertain significance |
| NM_001165963.4(SCN1A):c.4867G>C (p.Glu1623Gln) |
single nucleotide variant |
Generalized epilepsy with febrile seizures plus, type 2 [RCV002470205] |
Chr2:165992408 [GRCh38]
Chr2:166848918 [GRCh37]
Chr2:2q24.3 |
likely pathogenic |
| NM_001165963.4(SCN1A):c.5665A>C (p.Met1889Leu) |
single nucleotide variant |
not provided [RCV002464776] |
Chr2:165991610 [GRCh38]
Chr2:166848120 [GRCh37]
Chr2:2q24.3 |
uncertain significance |
| NM_001165963.4(SCN1A):c.4853-142A>T |
single nucleotide variant |
not provided [RCV001719370] |
Chr2:165992564 [GRCh38]
Chr2:166849074 [GRCh37]
Chr2:2q24.3 |
benign |
| NM_001165963.4(SCN1A):c.810G>A (p.Met270Ile) |
single nucleotide variant |
Early infantile epileptic encephalopathy with suppression bursts [RCV002032590]|not provided [RCV001552637] |
Chr2:166051873 [GRCh38]
Chr2:166908383 [GRCh37]
Chr2:2q24.3 |
likely pathogenic|uncertain significance |
| NM_001165963.4(SCN1A):c.4511del (p.Gln1504fs) |
deletion |
Severe myoclonic epilepsy in infancy [RCV002465066] |
Chr2:165996083 [GRCh38]
Chr2:166852593 [GRCh37]
Chr2:2q24.3 |
pathogenic |
| NM_001165963.4(SCN1A):c.4284+179A>T |
single nucleotide variant |
not provided [RCV001643956] |
Chr2:166002293 [GRCh38]
Chr2:166858803 [GRCh37]
Chr2:2q24.3 |
benign |
| NM_001165963.4(SCN1A):c.2176+2T>C |
single nucleotide variant |
Generalized epilepsy with febrile seizures plus, type 2 [RCV002463569] |
Chr2:166042290 [GRCh38]
Chr2:166898800 [GRCh37]
Chr2:2q24.3 |
pathogenic |
| NM_001165963.4(SCN1A):c.1006T>C (p.Cys336Arg) |
single nucleotide variant |
Severe myoclonic epilepsy in infancy [RCV002466351] |
Chr2:166048908 [GRCh38]
Chr2:166905418 [GRCh37]
Chr2:2q24.3 |
likely pathogenic |
| NM_001165963.4(SCN1A):c.4003-4T>G |
single nucleotide variant |
Severe myoclonic epilepsy in infancy [RCV002466354] |
Chr2:166002757 [GRCh38]
Chr2:166859267 [GRCh37]
Chr2:2q24.3 |
likely pathogenic |
| NM_001165963.4(SCN1A):c.4602C>G (p.Val1534=) |
single nucleotide variant |
See cases [RCV002252532] |
Chr2:165994396 [GRCh38]
Chr2:166850906 [GRCh37]
Chr2:2q24.3 |
uncertain significance |
| NM_001165963.4(SCN1A):c.3551-192T>C |
single nucleotide variant |
not provided [RCV001596026] |
Chr2:166014090 [GRCh38]
Chr2:166870600 [GRCh37]
Chr2:2q24.3 |
benign |
| NM_001165963.4(SCN1A):c.458G>T (p.Trp153Leu) |
single nucleotide variant |
not provided [RCV001575851] |
Chr2:166056426 [GRCh38]
Chr2:166912936 [GRCh37]
Chr2:2q24.3 |
uncertain significance |
| NM_001165963.4(SCN1A):c.2701G>A (p.Val901Ile) |
single nucleotide variant |
Early infantile epileptic encephalopathy with suppression bursts [RCV003771751]|not provided [RCV001576000] |
Chr2:166038021 [GRCh38]
Chr2:166894531 [GRCh37]
Chr2:2q24.3 |
uncertain significance |
| NM_001165963.4(SCN1A):c.4769T>C (p.Leu1590Pro) |
single nucleotide variant |
Severe myoclonic epilepsy in infancy [RCV003326175] |
Chr2:165994229 [GRCh38]
Chr2:166850739 [GRCh37]
Chr2:2q24.3 |
pathogenic |
| NM_001165963.4(SCN1A):c.3429G>C (p.Glu1143Asp) |
single nucleotide variant |
not provided [RCV001560387] |
Chr2:166036048 [GRCh38]
Chr2:166892558 [GRCh37]
Chr2:2q24.3 |
likely pathogenic |
| NM_001165963.4(SCN1A):c.2898C>T (p.Ala966=) |
single nucleotide variant |
SCN1A-related condition [RCV003900826]|not provided [RCV001594149] |
Chr2:166037824 [GRCh38]
Chr2:166894334 [GRCh37]
Chr2:2q24.3 |
likely benign |
| NM_001165963.4(SCN1A):c.2584C>A (p.Arg862=) |
single nucleotide variant |
not provided [RCV001658986] |
Chr2:166039428 [GRCh38]
Chr2:166895938 [GRCh37]
Chr2:2q24.3 |
uncertain significance |
| NM_001165963.4(SCN1A):c.2415+38A>G |
single nucleotide variant |
not provided [RCV001555605] |
Chr2:166041193 [GRCh38]
Chr2:166897703 [GRCh37]
Chr2:2q24.3 |
likely benign |
| NM_001165963.4(SCN1A):c.4476+202T>A |
single nucleotide variant |
not provided [RCV001555606] |
Chr2:165997836 [GRCh38]
Chr2:166854346 [GRCh37]
Chr2:2q24.3 |
likely benign |
| NM_001165963.4(SCN1A):c.5888G>C (p.Arg1963Thr) |
single nucleotide variant |
Early infantile epileptic encephalopathy with suppression bursts [RCV003588843]|not provided [RCV002467264] |
Chr2:165991387 [GRCh38]
Chr2:166847897 [GRCh37]
Chr2:2q24.3 |
uncertain significance |
| NM_001165963.4(SCN1A):c.2955T>G (p.Asn985Lys) |
single nucleotide variant |
not provided [RCV001574431] |
Chr2:166036522 [GRCh38]
Chr2:166893032 [GRCh37]
Chr2:2q24.3 |
likely pathogenic |
| NM_001165963.4(SCN1A):c.836A>G (p.Gln279Arg) |
single nucleotide variant |
Generalized epilepsy with febrile seizures plus, type 2 [RCV002471757] |
Chr2:166051847 [GRCh38]
Chr2:166908357 [GRCh37]
Chr2:2q24.3 |
uncertain significance |
| NM_001165963.4(SCN1A):c.5564C>A (p.Pro1855His) |
single nucleotide variant |
Severe myoclonic epilepsy in infancy [RCV002463570] |
Chr2:165991711 [GRCh38]
Chr2:166848221 [GRCh37]
Chr2:2q24.3 |
pathogenic |
| NM_001165963.4(SCN1A):c.1133T>C (p.Leu378Pro) |
single nucleotide variant |
Early infantile epileptic encephalopathy with suppression bursts [RCV001065394] |
Chr2:166047664 [GRCh38]
Chr2:166904174 [GRCh37]
Chr2:2q24.3 |
pathogenic|uncertain significance |
| NM_001165963.4(SCN1A):c.5368A>G (p.Ser1790Gly) |
single nucleotide variant |
not provided [RCV001531931] |
Chr2:165991907 [GRCh38]
Chr2:166848417 [GRCh37]
Chr2:2q24.3 |
uncertain significance |
| NM_001165963.4(SCN1A):c.3429+110T>A |
single nucleotide variant |
not provided [RCV001684574] |
Chr2:166035938 [GRCh38]
Chr2:166892448 [GRCh37]
Chr2:2q24.3 |
benign |
| NM_001165963.4(SCN1A):c.201C>T (p.Asp67=) |
single nucleotide variant |
not provided [RCV001717023] |
Chr2:166073421 [GRCh38]
Chr2:166929931 [GRCh37]
Chr2:2q24.3 |
likely benign |
| NM_001165963.4(SCN1A):c.5624_5630del (p.Val1875fs) |
deletion |
Generalized epilepsy with febrile seizures plus, type 2 [RCV001527710] |
Chr2:165991645..165991651 [GRCh38]
Chr2:166848155..166848161 [GRCh37]
Chr2:2q24.3 |
likely pathogenic |
| NM_001165963.4(SCN1A):c.383+335G>A |
single nucleotide variant |
not provided [RCV001643598] |
Chr2:166058235 [GRCh38]
Chr2:166914745 [GRCh37]
Chr2:2q24.3 |
benign |
| NM_001165963.4(SCN1A):c.4002+2651dup |
duplication |
not provided [RCV001608957] |
Chr2:166007055..166007056 [GRCh38]
Chr2:166863565..166863566 [GRCh37]
Chr2:2q24.3 |
benign |
| NM_001165963.4(SCN1A):c.3398G>T (p.Ser1133Ile) |
single nucleotide variant |
not provided [RCV001589967] |
Chr2:166036079 [GRCh38]
Chr2:166892589 [GRCh37]
Chr2:2q24.3 |
uncertain significance |
| NM_001165963.4(SCN1A):c.3705+55C>G |
single nucleotide variant |
not provided [RCV001696586] |
Chr2:166013689 [GRCh38]
Chr2:166870199 [GRCh37]
Chr2:2q24.3 |
benign |
| NM_001165963.4(SCN1A):c.3276T>G (p.Val1092=) |
single nucleotide variant |
Early infantile epileptic encephalopathy with suppression bursts [RCV002072349]|not provided [RCV001594144]|not specified [RCV001825010] |
Chr2:166036201 [GRCh38]
Chr2:166892711 [GRCh37]
Chr2:2q24.3 |
likely benign |
| NM_001165963.4(SCN1A):c.4582-262GTTT[5] |
microsatellite |
not provided [RCV001597987] |
Chr2:165994651..165994658 [GRCh38]
Chr2:166851161..166851168 [GRCh37]
Chr2:2q24.3 |
benign |
| NM_001165963.4(SCN1A):c.2946+112dup |
duplication |
not provided [RCV001715581] |
Chr2:166037655..166037656 [GRCh38]
Chr2:166894165..166894166 [GRCh37]
Chr2:2q24.3 |
benign |
| NM_001165963.4(SCN1A):c.1378-153_1378-152del |
deletion |
not provided [RCV001596154] |
Chr2:166045479..166045480 [GRCh38]
Chr2:166901989..166901990 [GRCh37]
Chr2:2q24.3 |
likely benign |
| NM_001165963.4(SCN1A):c.602+269CA[3] |
microsatellite |
not provided [RCV001694192] |
Chr2:166054360..166054363 [GRCh38]
Chr2:166910870..166910873 [GRCh37]
Chr2:2q24.3 |
benign |
| NM_001165963.4(SCN1A):c.919G>A (p.Glu307Lys) |
single nucleotide variant |
Early infantile epileptic encephalopathy with suppression bursts [RCV001034047] |
Chr2:166051764 [GRCh38]
Chr2:166908274 [GRCh37]
Chr2:2q24.3 |
likely benign |
| NM_001165963.4(SCN1A):c.3283T>C (p.Tyr1095His) |
single nucleotide variant |
Early infantile epileptic encephalopathy with suppression bursts [RCV001070528] |
Chr2:166036194 [GRCh38]
Chr2:166892704 [GRCh37]
Chr2:2q24.3 |
uncertain significance |
| NM_001165963.4(SCN1A):c.782_788del (p.Val260_Phe261insTer) |
deletion |
not provided [RCV001092952] |
Chr2:166051895..166051901 [GRCh38]
Chr2:166908405..166908411 [GRCh37]
Chr2:2q24.3 |
pathogenic |
| NM_001165963.4(SCN1A):c.2867T>C (p.Met956Thr) |
single nucleotide variant |
Early infantile epileptic encephalopathy with suppression bursts [RCV001242431]|Generalized epilepsy with febrile seizures plus, type 1 [RCV001171310] |
Chr2:166037855 [GRCh38]
Chr2:166894365 [GRCh37]
Chr2:2q24.3 |
pathogenic|likely pathogenic |
| NM_001165963.4(SCN1A):c.4783_4784del (p.Leu1595fs) |
microsatellite |
Autosomal dominant epilepsy [RCV001192961]|Early infantile epileptic encephalopathy with suppression bursts [RCV003588722]|not provided [RCV003142119] |
Chr2:165994214..165994215 [GRCh38]
Chr2:166850724..166850725 [GRCh37]
Chr2:2q24.3 |
pathogenic|likely pathogenic |
| NM_001165963.4(SCN1A):c.4965del (p.Ile1656fs) |
deletion |
not provided [RCV001008213] |
Chr2:165992310 [GRCh38]
Chr2:166848820 [GRCh37]
Chr2:2q24.3 |
likely pathogenic |
| NM_001165963.4(SCN1A):c.5294_5298del (p.Phe1765fs) |
deletion |
not provided [RCV001008888] |
Chr2:165991977..165991981 [GRCh38]
Chr2:166848487..166848491 [GRCh37]
Chr2:2q24.3 |
pathogenic |
| NM_001165963.4(SCN1A):c.*553G>A |
single nucleotide variant |
Generalized epilepsy with febrile seizures plus, type 2 [RCV001129368]|Migraine, familial hemiplegic, 3 [RCV001129367] |
Chr2:165990692 [GRCh38]
Chr2:166847202 [GRCh37]
Chr2:2q24.3 |
uncertain significance |
| NM_001165963.4(SCN1A):c.*515G>T |
single nucleotide variant |
Generalized epilepsy with febrile seizures plus, type 2 [RCV001129369]|Migraine, familial hemiplegic, 3 [RCV001129370] |
Chr2:165990730 [GRCh38]
Chr2:166847240 [GRCh37]
Chr2:2q24.3 |
uncertain significance |
| NM_001165963.4(SCN1A):c.5179G>T (p.Asp1727Tyr) |
single nucleotide variant |
Early infantile epileptic encephalopathy with suppression bursts [RCV001035628] |
Chr2:165992096 [GRCh38]
Chr2:166848606 [GRCh37]
Chr2:2q24.3 |
likely pathogenic |
| NM_001165963.4(SCN1A):c.4830_4836delinsAGGTAATGG (p.Val1611fs) |
indel |
not provided [RCV001008221] |
Chr2:165994162..165994168 [GRCh38]
Chr2:166850672..166850678 [GRCh37]
Chr2:2q24.3 |
likely pathogenic |
| NM_001165963.4(SCN1A):c.3835del (p.Tyr1279fs) |
deletion |
not provided [RCV001008496] |
Chr2:166012153 [GRCh38]
Chr2:166868663 [GRCh37]
Chr2:2q24.3 |
pathogenic |
| NM_001165963.4(SCN1A):c.2885T>C (p.Val962Ala) |
single nucleotide variant |
not provided [RCV001092110] |
Chr2:166037837 [GRCh38]
Chr2:166894347 [GRCh37]
Chr2:2q24.3 |
uncertain significance |
| NM_001165963.4(SCN1A):c.2585G>T (p.Arg862Leu) |
single nucleotide variant |
Early infantile epileptic encephalopathy with suppression bursts [RCV001214741]|Generalized epilepsy with febrile seizures plus, type 2 [RCV002249679]|not provided [RCV001092113] |
Chr2:166039427 [GRCh38]
Chr2:166895937 [GRCh37]
Chr2:2q24.3 |
pathogenic|likely pathogenic |
| NM_001165963.4(SCN1A):c.4525A>C (p.Asn1509His) |
single nucleotide variant |
Severe myoclonic epilepsy in infancy [RCV001169858] |
Chr2:165996069 [GRCh38]
Chr2:166852579 [GRCh37]
Chr2:2q24.3 |
likely pathogenic |
| NM_001165963.4(SCN1A):c.1489del (p.Arg497fs) |
deletion |
Severe myoclonic epilepsy in infancy [RCV001089899] |
Chr2:166045216 [GRCh38]
Chr2:166901726 [GRCh37]
Chr2:2q24.3 |
pathogenic |
| NM_001165963.4(SCN1A):c.429_430del (p.Phe144fs) |
microsatellite |
Early infantile epileptic encephalopathy with suppression bursts [RCV001227198]|Severe myoclonic epilepsy in infancy [RCV001194607] |
Chr2:166056454..166056455 [GRCh38]
Chr2:166912964..166912965 [GRCh37]
Chr2:2q24.3 |
pathogenic |
| NM_001165963.4(SCN1A):c.4331C>A (p.Ser1444Tyr) |
single nucleotide variant |
Generalized epilepsy with febrile seizures plus, type 2 [RCV001194610] |
Chr2:165999730 [GRCh38]
Chr2:166856240 [GRCh37]
Chr2:2q24.3 |
pathogenic |
| NM_001165963.4(SCN1A):c.4205_4208del (p.Arg1402fs) |
microsatellite |
Early infantile epileptic encephalopathy with suppression bursts [RCV003588716]|not provided [RCV001091663] |
Chr2:166002548..166002551 [GRCh38]
Chr2:166859058..166859061 [GRCh37]
Chr2:2q24.3 |
pathogenic |
| NC_000002.12:g.(?_165991225)_(166311776_?)del |
deletion |
Early infantile epileptic encephalopathy with suppression bursts [RCV001032875] |
Chr2:166847735..167168286 [GRCh37]
Chr2:2q24.3 |
pathogenic |
| NM_001165963.4(SCN1A):c.3706-3T>C |
single nucleotide variant |
Early infantile epileptic encephalopathy with suppression bursts [RCV001045369] |
Chr2:166012285 [GRCh38]
Chr2:166868795 [GRCh37]
Chr2:2q24.3 |
likely benign|uncertain significance |
| NM_001165963.4(SCN1A):c.4024G>T (p.Gly1342Ter) |
single nucleotide variant |
Generalized epilepsy with febrile seizures plus, type 2 [RCV001031009] |
Chr2:166002732 [GRCh38]
Chr2:166859242 [GRCh37]
Chr2:2q24.3 |
pathogenic |
| NM_001165963.4(SCN1A):c.417G>C (p.Leu139Phe) |
single nucleotide variant |
Early infantile epileptic encephalopathy with suppression bursts [RCV001045388]|not provided [RCV003227900] |
Chr2:166056467 [GRCh38]
Chr2:166912977 [GRCh37]
Chr2:2q24.3 |
likely pathogenic|uncertain significance |
| NM_001165963.4(SCN1A):c.964+1G>C |
single nucleotide variant |
not provided [RCV001092950] |
Chr2:166051718 [GRCh38]
Chr2:166908228 [GRCh37]
Chr2:2q24.3 |
pathogenic |
| NC_000002.12:g.(?_165991225)_(166048969_?)del |
deletion |
Early infantile epileptic encephalopathy with suppression bursts [RCV001033276] |
Chr2:166847735..166905479 [GRCh37]
Chr2:2q24.3 |
pathogenic |
| NC_000002.12:g.(?_165090130)_(166311776_?)dup |
duplication |
Early infantile epileptic encephalopathy with suppression bursts [RCV001032318]|Neuropathy, hereditary sensory and autonomic, type 2A [RCV001324549]|Seizures, benign familial infantile, 3 [RCV001365121]|not provided [RCV001300704] |
Chr2:165946640..167168286 [GRCh37]
Chr2:2q24.3 |
uncertain significance|no classifications from unflagged records |
| NM_001165963.4(SCN1A):c.685G>C (p.Val229Leu) |
single nucleotide variant |
Early infantile epileptic encephalopathy with suppression bursts [RCV001047939] |
Chr2:166052861 [GRCh38]
Chr2:166909371 [GRCh37]
Chr2:2q24.3 |
uncertain significance |
| NM_001165963.4(SCN1A):c.5209A>G (p.Lys1737Glu) |
single nucleotide variant |
Early infantile epileptic encephalopathy with suppression bursts [RCV003769859]|not provided [RCV003223701]|not specified [RCV001174864] |
Chr2:165992066 [GRCh38]
Chr2:166848576 [GRCh37]
Chr2:2q24.3 |
uncertain significance |
| NM_001165963.4(SCN1A):c.487G>T (p.Gly163Ter) |
single nucleotide variant |
not provided [RCV001092954] |
Chr2:166054753 [GRCh38]
Chr2:166911263 [GRCh37]
Chr2:2q24.3 |
pathogenic |
| NM_001165963.4(SCN1A):c.4107T>G (p.Phe1369Leu) |
single nucleotide variant |
not provided [RCV001588470] |
Chr2:166002649 [GRCh38]
Chr2:166859159 [GRCh37]
Chr2:2q24.3 |
uncertain significance |
| NM_001165963.4(SCN1A):c.1378-152del |
deletion |
not provided [RCV001666897] |
Chr2:166045479 [GRCh38]
Chr2:166901989 [GRCh37]
Chr2:2q24.3 |
benign |
| NC_000002.12:g.(?_165991225)_(166041489_?)del |
deletion |
Early infantile epileptic encephalopathy with suppression bursts [RCV001032706] |
Chr2:166847735..166897999 [GRCh37]
Chr2:2q24.3 |
pathogenic |
| NM_001165963.4(SCN1A):c.1154A>C (p.Glu385Ala) |
single nucleotide variant |
Early infantile epileptic encephalopathy with suppression bursts [RCV001034995] |
Chr2:166047643 [GRCh38]
Chr2:166904153 [GRCh37]
Chr2:2q24.3 |
likely pathogenic|uncertain significance |
| NM_001165963.4(SCN1A):c.3705+166del |
deletion |
not provided [RCV001586489] |
Chr2:166013578 [GRCh38]
Chr2:166870088 [GRCh37]
Chr2:2q24.3 |
likely benign |
| NC_000002.12:g.(?_165991225)_(166073641_?)del |
deletion |
Early infantile epileptic encephalopathy with suppression bursts [RCV001033009] |
Chr2:166847735..166930151 [GRCh37]
Chr2:2q24.3 |
pathogenic |
| NM_001165963.4(SCN1A):c.5046C>A (p.Phe1682Leu) |
single nucleotide variant |
Early infantile epileptic encephalopathy with suppression bursts [RCV001049575] |
Chr2:165992229 [GRCh38]
Chr2:166848739 [GRCh37]
Chr2:2q24.3 |
uncertain significance |
| NM_001165963.4(SCN1A):c.5108del (p.Asp1703fs) |
deletion |
Early infantile epileptic encephalopathy with suppression bursts [RCV001071457] |
Chr2:165992167 [GRCh38]
Chr2:166848677 [GRCh37]
Chr2:2q24.3 |
pathogenic |
| NM_001165963.4(SCN1A):c.1323_1328del (p.Ala442_Glu443del) |
deletion |
Early infantile epileptic encephalopathy with suppression bursts [RCV001873585]|not provided [RCV001171718] |
Chr2:166046819..166046824 [GRCh38]
Chr2:166903329..166903334 [GRCh37]
Chr2:2q24.3 |
uncertain significance |
| NM_001165963.4(SCN1A):c.386T>G (p.Leu129Ter) |
single nucleotide variant |
not provided [RCV001665542] |
Chr2:166056498 [GRCh38]
Chr2:166913008 [GRCh37]
Chr2:2q24.3 |
pathogenic |
| NC_000002.12:g.(?_165995993)_(165998195_?)del |
deletion |
Early infantile epileptic encephalopathy with suppression bursts [RCV001033379] |
Chr2:166852503..166854705 [GRCh37]
Chr2:2q24.3 |
pathogenic |
| NM_001165963.4(SCN1A):c.4339-3T>A |
single nucleotide variant |
not provided [RCV001582337] |
Chr2:165998178 [GRCh38]
Chr2:166854688 [GRCh37]
Chr2:2q24.3 |
uncertain significance |
| NM_001165963.4(SCN1A):c.694+232_694+233insA |
insertion |
not provided [RCV001609356] |
Chr2:166052619..166052620 [GRCh38]
Chr2:166909129..166909130 [GRCh37]
Chr2:2q24.3 |
benign |
| NC_000002.12:g.(?_165941007)_(166073641_?)del |
deletion |
Early infantile epileptic encephalopathy with suppression bursts [RCV001033411] |
Chr2:166797517..166930151 [GRCh37]
Chr2:2q24.3 |
pathogenic |
| NM_001165963.1:c.(3429+1_3430-1)_(4002+1_4003-1)del |
deletion |
Generalized epilepsy with febrile seizures plus, type 2 [RCV001706936] |
|
likely pathogenic |
| NM_001165963.4(SCN1A):c.4003-168dup |
duplication |
not provided [RCV001649208] |
Chr2:166002912..166002913 [GRCh38]
Chr2:166859422..166859423 [GRCh37]
Chr2:2q24.3 |
benign |
| NM_001165963.4(SCN1A):c.689_690insG (p.Ile230fs) |
insertion |
Severe myoclonic epilepsy in infancy [RCV001089691] |
Chr2:166052856..166052857 [GRCh38]
Chr2:166909366..166909367 [GRCh37]
Chr2:2q24.3 |
pathogenic |
| NM_001165963.4(SCN1A):c.4428C>G (p.Asn1476Lys) |
single nucleotide variant |
Severe myoclonic epilepsy in infancy [RCV001089693] |
Chr2:165998086 [GRCh38]
Chr2:166854596 [GRCh37]
Chr2:2q24.3 |
likely pathogenic |
| NM_001165963.4(SCN1A):c.591del (p.Ile198fs) |
deletion |
Severe myoclonic epilepsy in infancy [RCV001089694] |
Chr2:166054649 [GRCh38]
Chr2:166911159 [GRCh37]
Chr2:2q24.3 |
pathogenic |
| NM_001165963.4(SCN1A):c.5768A>C (p.Gln1923Pro) |
single nucleotide variant |
Severe myoclonic epilepsy in infancy [RCV001089695] |
Chr2:165991507 [GRCh38]
Chr2:166848017 [GRCh37]
Chr2:2q24.3 |
likely pathogenic |
| NM_001165963.4(SCN1A):c.5546T>C (p.Leu1849Pro) |
single nucleotide variant |
Severe myoclonic epilepsy in infancy [RCV001089696] |
Chr2:165991729 [GRCh38]
Chr2:166848239 [GRCh37]
Chr2:2q24.3 |
likely pathogenic |
| NM_001165963.4(SCN1A):c.2846G>A (p.Cys949Tyr) |
single nucleotide variant |
Early infantile epileptic encephalopathy with suppression bursts [RCV003588743]|Severe myoclonic epilepsy in infancy [RCV001535825]|not provided [RCV001552269] |
Chr2:166037876 [GRCh38]
Chr2:166894386 [GRCh37]
Chr2:2q24.3 |
pathogenic |
| NM_001165963.4(SCN1A):c.4396T>C (p.Phe1466Leu) |
single nucleotide variant |
Severe myoclonic epilepsy in infancy [RCV001527711] |
Chr2:165998118 [GRCh38]
Chr2:166854628 [GRCh37]
Chr2:2q24.3 |
uncertain significance |
| NM_001165963.4(SCN1A):c.5074T>A (p.Phe1692Ile) |
single nucleotide variant |
Early infantile epileptic encephalopathy with suppression bursts [RCV001048383] |
Chr2:165992201 [GRCh38]
Chr2:166848711 [GRCh37]
Chr2:2q24.3 |
uncertain significance |
| NM_001165963.4(SCN1A):c.*1144G>C |
single nucleotide variant |
Generalized epilepsy with febrile seizures plus, type 2 [RCV001129272]|Migraine, familial hemiplegic, 3 [RCV001129273] |
Chr2:165990101 [GRCh38]
Chr2:166846611 [GRCh37]
Chr2:2q24.3 |
uncertain significance |
| NM_001165963.4(SCN1A):c.4427A>C (p.Asn1476Thr) |
single nucleotide variant |
Severe myoclonic epilepsy in infancy [RCV001528178] |
Chr2:165998087 [GRCh38]
Chr2:166854597 [GRCh37]
Chr2:2q24.3 |
uncertain significance |
| NM_001165963.4(SCN1A):c.4477-37A>G |
single nucleotide variant |
not provided [RCV001566333] |
Chr2:165996154 [GRCh38]
Chr2:166852664 [GRCh37]
Chr2:2q24.3 |
likely benign |
| NM_001165963.4(SCN1A):c.361G>C (p.Ala121Pro) |
single nucleotide variant |
Generalized epilepsy with febrile seizures plus, type 2 [RCV001030999] |
Chr2:166058592 [GRCh38]
Chr2:166915102 [GRCh37]
Chr2:2q24.3 |
likely pathogenic |
| NM_001165963.4(SCN1A):c.1171-132del |
deletion |
not provided [RCV001582099] |
Chr2:166047108 [GRCh38]
Chr2:166903618 [GRCh37]
Chr2:2q24.3 |
likely benign |
| NM_001165963.4(SCN1A):c.1029-47A>G |
single nucleotide variant |
not provided [RCV001693034] |
Chr2:166047815 [GRCh38]
Chr2:166904325 [GRCh37]
Chr2:2q24.3 |
benign |
| NM_001165963.4(SCN1A):c.512del (p.Ile171fs) |
deletion |
not provided [RCV001531326] |
Chr2:166054728 [GRCh38]
Chr2:166911238 [GRCh37]
Chr2:2q24.3 |
pathogenic |
| NM_001165963.4(SCN1A):c.694+227dup |
duplication |
not provided [RCV001666573] |
Chr2:166052612..166052613 [GRCh38]
Chr2:166909122..166909123 [GRCh37]
Chr2:2q24.3 |
benign |
| NC_000002.12:g.(?_165874735)_(166073641_?)del |
deletion |
Early infantile epileptic encephalopathy with suppression bursts [RCV001031742] |
Chr2:166731245..166930151 [GRCh37]
Chr2:2q24.3 |
pathogenic |
| NM_001165963.4(SCN1A):c.2971C>T (p.Leu991Phe) |
single nucleotide variant |
Early infantile epileptic encephalopathy with suppression bursts [RCV001068032]|Severe myoclonic epilepsy in infancy [RCV001809976] |
Chr2:166036506 [GRCh38]
Chr2:166893016 [GRCh37]
Chr2:2q24.3 |
pathogenic|likely pathogenic|uncertain significance |
| NM_001165963.4(SCN1A):c.4487A>C (p.Gln1496Pro) |
single nucleotide variant |
Early infantile epileptic encephalopathy with suppression bursts [RCV002032663]|not provided [RCV001665543] |
Chr2:165996107 [GRCh38]
Chr2:166852617 [GRCh37]
Chr2:2q24.3 |
uncertain significance |
| NM_001165963.4(SCN1A):c.5618A>G (p.Lys1873Arg) |
single nucleotide variant |
Early infantile epileptic encephalopathy with suppression bursts [RCV001034764] |
Chr2:165991657 [GRCh38]
Chr2:166848167 [GRCh37]
Chr2:2q24.3 |
uncertain significance |
| NM_001165963.4(SCN1A):c.1575_1581del (p.Glu526fs) |
deletion |
Generalized epilepsy with febrile seizures plus, type 2 [RCV001194612] |
Chr2:166045124..166045130 [GRCh38]
Chr2:166901634..166901640 [GRCh37]
Chr2:2q24.3 |
pathogenic |
| NM_001165963.4(SCN1A):c.1111G>C (p.Ala371Pro) |
single nucleotide variant |
Severe myoclonic epilepsy in infancy [RCV001095640] |
Chr2:166047686 [GRCh38]
Chr2:166904196 [GRCh37]
Chr2:2q24.3 |
likely pathogenic |
| NM_001165963.4(SCN1A):c.319G>T (p.Ala107Ser) |
single nucleotide variant |
Early infantile epileptic encephalopathy with suppression bursts [RCV001213403] |
Chr2:166058634 [GRCh38]
Chr2:166915144 [GRCh37]
Chr2:2q24.3 |
uncertain significance |
| NM_001165963.4(SCN1A):c.5099G>A (p.Gly1700Glu) |
single nucleotide variant |
Early infantile epileptic encephalopathy with suppression bursts [RCV001202860] |
Chr2:165992176 [GRCh38]
Chr2:166848686 [GRCh37]
Chr2:2q24.3 |
uncertain significance |
| NM_001165963.4(SCN1A):c.4552A>C (p.Lys1518Gln) |
single nucleotide variant |
Early infantile epileptic encephalopathy with suppression bursts [RCV001231308] |
Chr2:165996042 [GRCh38]
Chr2:166852552 [GRCh37]
Chr2:2q24.3 |
uncertain significance |
| NM_001165963.4(SCN1A):c.5051A>G (p.Tyr1684Cys) |
single nucleotide variant |
Early infantile epileptic encephalopathy with suppression bursts [RCV001212263] |
Chr2:165992224 [GRCh38]
Chr2:166848734 [GRCh37]
Chr2:2q24.3 |
pathogenic|uncertain significance |
| NM_001165963.4(SCN1A):c.1883C>A (p.Ser628Ter) |
single nucleotide variant |
Early infantile epileptic encephalopathy with suppression bursts [RCV001218504] |
Chr2:166043829 [GRCh38]
Chr2:166900339 [GRCh37]
Chr2:2q24.3 |
pathogenic |
| NM_001165963.4(SCN1A):c.1054G>A (p.Val352Met) |
single nucleotide variant |
Early infantile epileptic encephalopathy with suppression bursts [RCV001217060] |
Chr2:166047743 [GRCh38]
Chr2:166904253 [GRCh37]
Chr2:2q24.3 |
uncertain significance |
| NM_001165963.4(SCN1A):c.4075C>A (p.Leu1359Ile) |
single nucleotide variant |
Early infantile epileptic encephalopathy with suppression bursts [RCV001234312] |
Chr2:166002681 [GRCh38]
Chr2:166859191 [GRCh37]
Chr2:2q24.3 |
uncertain significance |
| NM_001165963.4(SCN1A):c.1170G>A (p.Leu390=) |
single nucleotide variant |
Early infantile epileptic encephalopathy with suppression bursts [RCV001217095] |
Chr2:166047627 [GRCh38]
Chr2:166904137 [GRCh37]
Chr2:2q24.3 |
pathogenic |
| NM_001165963.4(SCN1A):c.2792G>T (p.Arg931Leu) |
single nucleotide variant |
Early infantile epileptic encephalopathy with suppression bursts [RCV001038397]|Severe myoclonic epilepsy in infancy [RCV001328666] |
Chr2:166037930 [GRCh38]
Chr2:166894440 [GRCh37]
Chr2:2q24.3 |
pathogenic|likely pathogenic |
| NM_001165963.4(SCN1A):c.5426del (p.Tyr1809fs) |
deletion |
Early infantile epileptic encephalopathy with suppression bursts [RCV001056031] |
Chr2:165991849 [GRCh38]
Chr2:166848359 [GRCh37]
Chr2:2q24.3 |
pathogenic |
| NM_001165963.4(SCN1A):c.2796G>A (p.Trp932Ter) |
single nucleotide variant |
Early infantile epileptic encephalopathy with suppression bursts [RCV001229322] |
Chr2:166037926 [GRCh38]
Chr2:166894436 [GRCh37]
Chr2:2q24.3 |
pathogenic |
| NM_001165963.4(SCN1A):c.1843G>T (p.Gly615Ter) |
single nucleotide variant |
Migraine, familial hemiplegic, 3 [RCV001196648] |
Chr2:166043869 [GRCh38]
Chr2:166900379 [GRCh37]
Chr2:2q24.3 |
pathogenic |
| NM_001165963.4(SCN1A):c.1029C>G (p.Gly343=) |
single nucleotide variant |
Early infantile epileptic encephalopathy with suppression bursts [RCV001206129] |
Chr2:166047768 [GRCh38]
Chr2:166904278 [GRCh37]
Chr2:2q24.3 |
uncertain significance |
| NM_001165963.4(SCN1A):c.4128T>G (p.Cys1376Trp) |
single nucleotide variant |
Early infantile epileptic encephalopathy with suppression bursts [RCV001217393] |
Chr2:166002628 [GRCh38]
Chr2:166859138 [GRCh37]
Chr2:2q24.3 |
uncertain significance |
| NM_001165963.4(SCN1A):c.5182G>A (p.Gly1728Arg) |
single nucleotide variant |
Early infantile epileptic encephalopathy with suppression bursts [RCV001049341] |
Chr2:165992093 [GRCh38]
Chr2:166848603 [GRCh37]
Chr2:2q24.3 |
likely pathogenic|uncertain significance |
| NM_001165963.4(SCN1A):c.5392G>A (p.Glu1798Lys) |
single nucleotide variant |
Early infantile epileptic encephalopathy with suppression bursts [RCV001041867] |
Chr2:165991883 [GRCh38]
Chr2:166848393 [GRCh37]
Chr2:2q24.3 |
uncertain significance |
| NM_001165963.4(SCN1A):c.788T>C (p.Leu263Pro) |
single nucleotide variant |
Early infantile epileptic encephalopathy with suppression bursts [RCV001049730] |
Chr2:166051895 [GRCh38]
Chr2:166908405 [GRCh37]
Chr2:2q24.3 |
likely pathogenic|uncertain significance |
| NM_001165963.4(SCN1A):c.879A>C (p.Glu293Asp) |
single nucleotide variant |
Early infantile epileptic encephalopathy with suppression bursts [RCV001060384]|not provided [RCV002469335] |
Chr2:166051804 [GRCh38]
Chr2:166908314 [GRCh37]
Chr2:2q24.3 |
benign|uncertain significance |
| NM_001165963.4(SCN1A):c.2846G>C (p.Cys949Ser) |
single nucleotide variant |
not provided [RCV001092111] |
Chr2:166037876 [GRCh38]
Chr2:166894386 [GRCh37]
Chr2:2q24.3 |
pathogenic |
| NM_001165963.4(SCN1A):c.2208_2209del (p.Cys737fs) |
deletion |
not provided [RCV001092116] |
Chr2:166041437..166041438 [GRCh38]
Chr2:166897947..166897948 [GRCh37]
Chr2:2q24.3 |
pathogenic |
| NM_001165963.4(SCN1A):c.4772A>T (p.Lys1591Ile) |
single nucleotide variant |
Migraine, familial hemiplegic, 3 [RCV001198758] |
Chr2:165994226 [GRCh38]
Chr2:166850736 [GRCh37]
Chr2:2q24.3 |
pathogenic |
| NM_001165963.4(SCN1A):c.5293T>C (p.Phe1765Leu) |
single nucleotide variant |
Early infantile epileptic encephalopathy with suppression bursts [RCV001237218] |
Chr2:165991982 [GRCh38]
Chr2:166848492 [GRCh37]
Chr2:2q24.3 |
pathogenic|likely pathogenic |
| NM_001165963.4(SCN1A):c.4510C>A (p.Gln1504Lys) |
single nucleotide variant |
Early infantile epileptic encephalopathy with suppression bursts [RCV001056655] |
Chr2:165996084 [GRCh38]
Chr2:166852594 [GRCh37]
Chr2:2q24.3 |
pathogenic|uncertain significance |
| NM_001165963.4(SCN1A):c.*1366A>T |
single nucleotide variant |
Generalized epilepsy with febrile seizures plus, type 2 [RCV001136242]|Migraine, familial hemiplegic, 3 [RCV001136241] |
Chr2:165989879 [GRCh38]
Chr2:166846389 [GRCh37]
Chr2:2q24.3 |
uncertain significance |
| NM_001165963.4(SCN1A):c.3106_3107del (p.Gln1036fs) |
deletion |
Early infantile epileptic encephalopathy with suppression bursts [RCV001201815]|not provided [RCV003132261] |
Chr2:166036370..166036371 [GRCh38]
Chr2:166892880..166892881 [GRCh37]
Chr2:2q24.3 |
pathogenic|likely pathogenic |
| NM_001165963.4(SCN1A):c.5087del (p.Lys1696fs) |
deletion |
Severe myoclonic epilepsy in infancy [RCV001089690] |
Chr2:165992188 [GRCh38]
Chr2:166848698 [GRCh37]
Chr2:2q24.3 |
pathogenic |
| NM_001165963.4(SCN1A):c.4409G>C (p.Gly1470Ala) |
single nucleotide variant |
Early infantile epileptic encephalopathy with suppression bursts [RCV001060988] |
Chr2:165998105 [GRCh38]
Chr2:166854615 [GRCh37]
Chr2:2q24.3 |
uncertain significance |
| NM_001165963.4(SCN1A):c.*1152A>G |
single nucleotide variant |
Generalized epilepsy with febrile seizures plus, type 2 [RCV001129270]|Migraine, familial hemiplegic, 3 [RCV001129271] |
Chr2:165990093 [GRCh38]
Chr2:166846603 [GRCh37]
Chr2:2q24.3 |
uncertain significance |
| NM_001165963.4(SCN1A):c.*458G>A |
single nucleotide variant |
Generalized epilepsy with febrile seizures plus, type 2 [RCV001129373]|Migraine, familial hemiplegic, 3 [RCV001129372] |
Chr2:165990787 [GRCh38]
Chr2:166847297 [GRCh37]
Chr2:2q24.3 |
uncertain significance |
| NM_001165963.4(SCN1A):c.4094G>A (p.Gly1365Asp) |
single nucleotide variant |
Early infantile epileptic encephalopathy with suppression bursts [RCV001862667]|Severe myoclonic epilepsy in infancy [RCV001089990] |
Chr2:166002662 [GRCh38]
Chr2:166859172 [GRCh37]
Chr2:2q24.3 |
pathogenic|likely pathogenic|uncertain significance |
| NM_001165963.4(SCN1A):c.1796_1803dup (p.Glu602fs) |
duplication |
Early infantile epileptic encephalopathy with suppression bursts [RCV001057601] |
Chr2:166043908..166043909 [GRCh38]
Chr2:166900418..166900419 [GRCh37]
Chr2:2q24.3 |
pathogenic |
| NM_001165963.4(SCN1A):c.1598del (p.Gly533fs) |
deletion |
not provided [RCV001092948] |
Chr2:166045107 [GRCh38]
Chr2:166901617 [GRCh37]
Chr2:2q24.3 |
pathogenic |
| NM_001165963.4(SCN1A):c.442del (p.Ser148fs) |
deletion |
not provided [RCV001092955] |
Chr2:166056442 [GRCh38]
Chr2:166912952 [GRCh37]
Chr2:2q24.3 |
pathogenic |
| NM_001165963.4(SCN1A):c.149_151del (p.Lys50_Pro51delinsThr) |
deletion |
Early infantile epileptic encephalopathy with suppression bursts [RCV001216515] |
Chr2:166073471..166073473 [GRCh38]
Chr2:166929981..166929983 [GRCh37]
Chr2:2q24.3 |
likely pathogenic |
| NM_001165963.4(SCN1A):c.3641T>C (p.Ile1214Thr) |
single nucleotide variant |
Early infantile epileptic encephalopathy with suppression bursts [RCV002554837]|Seizure [RCV002275268]|not provided [RCV001091668] |
Chr2:166013808 [GRCh38]
Chr2:166870318 [GRCh37]
Chr2:2q24.3 |
likely pathogenic|uncertain significance |
| NM_001165963.4(SCN1A):c.3656G>A (p.Trp1219Ter) |
single nucleotide variant |
Early infantile epileptic encephalopathy with suppression bursts [RCV003588717]|not provided [RCV001091667] |
Chr2:166013793 [GRCh38]
Chr2:166870303 [GRCh37]
Chr2:2q24.3 |
pathogenic |
| NM_001165963.4(SCN1A):c.5753C>A (p.Ser1918Tyr) |
single nucleotide variant |
Early infantile epileptic encephalopathy with suppression bursts [RCV001213862] |
Chr2:165991522 [GRCh38]
Chr2:166848032 [GRCh37]
Chr2:2q24.3 |
uncertain significance |
| NM_001165963.4(SCN1A):c.694+5G>A |
single nucleotide variant |
Early infantile epileptic encephalopathy with suppression bursts [RCV001051210] |
Chr2:166052847 [GRCh38]
Chr2:166909357 [GRCh37]
Chr2:2q24.3 |
pathogenic |
| NM_001165963.4(SCN1A):c.2043T>G (p.Asn681Lys) |
single nucleotide variant |
Early infantile epileptic encephalopathy with suppression bursts [RCV001039566] |
Chr2:166043669 [GRCh38]
Chr2:166900179 [GRCh37]
Chr2:2q24.3 |
uncertain significance |
| NM_001165963.4(SCN1A):c.4598T>A (p.Met1533Lys) |
single nucleotide variant |
Early infantile epileptic encephalopathy with suppression bursts [RCV001057828] |
Chr2:165994400 [GRCh38]
Chr2:166850910 [GRCh37]
Chr2:2q24.3 |
uncertain significance |
| NM_001165963.4(SCN1A):c.3611G>C (p.Trp1204Ser) |
single nucleotide variant |
Early infantile epileptic encephalopathy with suppression bursts [RCV001219016] |
Chr2:166013838 [GRCh38]
Chr2:166870348 [GRCh37]
Chr2:2q24.3 |
likely pathogenic|uncertain significance |
| NM_001165963.4(SCN1A):c.1613T>C (p.Ile538Thr) |
single nucleotide variant |
Early infantile epileptic encephalopathy with suppression bursts [RCV001234169] |
Chr2:166045092 [GRCh38]
Chr2:166901602 [GRCh37]
Chr2:2q24.3 |
likely benign|uncertain significance |
| NM_001165963.4(SCN1A):c.5666T>G (p.Met1889Arg) |
single nucleotide variant |
Early infantile epileptic encephalopathy with suppression bursts [RCV001205913]|Inborn genetic diseases [RCV002561203] |
Chr2:165991609 [GRCh38]
Chr2:166848119 [GRCh37]
Chr2:2q24.3 |
uncertain significance |
| NM_001165963.4(SCN1A):c.2552A>T (p.Asn851Ile) |
single nucleotide variant |
Early infantile epileptic encephalopathy with suppression bursts [RCV001217049] |
Chr2:166039460 [GRCh38]
Chr2:166895970 [GRCh37]
Chr2:2q24.3 |
uncertain significance |
| NM_001165963.4(SCN1A):c.4963G>A (p.Gly1655Arg) |
single nucleotide variant |
Early infantile epileptic encephalopathy with suppression bursts [RCV001215953] |
Chr2:165992312 [GRCh38]
Chr2:166848822 [GRCh37]
Chr2:2q24.3 |
likely pathogenic|uncertain significance |
| NM_001165963.4(SCN1A):c.384-5C>T |
single nucleotide variant |
Early infantile epileptic encephalopathy with suppression bursts [RCV001502562]|Generalized epilepsy with febrile seizures plus, type 2 [RCV001132518]|Migraine, familial hemiplegic, 3 [RCV001132517] |
Chr2:166056505 [GRCh38]
Chr2:166913015 [GRCh37]
Chr2:2q24.3 |
likely benign|uncertain significance |
| NM_001165963.4(SCN1A):c.5388T>A (p.Ser1796Arg) |
single nucleotide variant |
Generalized epilepsy with febrile seizures plus, type 2 [RCV001194615] |
Chr2:165991887 [GRCh38]
Chr2:166848397 [GRCh37]
Chr2:2q24.3 |
pathogenic |
| NM_001165963.4(SCN1A):c.4068A>G (p.Ile1356Met) |
single nucleotide variant |
Early infantile epileptic encephalopathy with suppression bursts [RCV001206835] |
Chr2:166002688 [GRCh38]
Chr2:166859198 [GRCh37]
Chr2:2q24.3 |
uncertain significance |
| NM_001165963.4(SCN1A):c.2369A>T (p.Tyr790Phe) |
single nucleotide variant |
Early infantile epileptic encephalopathy with suppression bursts [RCV001235451] |
Chr2:166041277 [GRCh38]
Chr2:166897787 [GRCh37]
Chr2:2q24.3 |
pathogenic|uncertain significance |
| NM_001165963.4(SCN1A):c.1170+3G>A |
single nucleotide variant |
Early infantile epileptic encephalopathy with suppression bursts [RCV001048017] |
Chr2:166047624 [GRCh38]
Chr2:166904134 [GRCh37]
Chr2:2q24.3 |
uncertain significance |
| NM_001165963.4(SCN1A):c.2698A>G (p.Ile900Val) |
single nucleotide variant |
Early infantile epileptic encephalopathy with suppression bursts [RCV001058988] |
Chr2:166038024 [GRCh38]
Chr2:166894534 [GRCh37]
Chr2:2q24.3 |
uncertain significance |
| NM_001165963.4(SCN1A):c.398T>G (p.Leu133Arg) |
single nucleotide variant |
Early infantile epileptic encephalopathy with suppression bursts [RCV001059061] |
Chr2:166056486 [GRCh38]
Chr2:166912996 [GRCh37]
Chr2:2q24.3 |
uncertain significance |
| NM_001165963.4(SCN1A):c.4028del (p.Ala1343fs) |
deletion |
Early infantile epileptic encephalopathy with suppression bursts [RCV001205194] |
Chr2:166002728 [GRCh38]
Chr2:166859238 [GRCh37]
Chr2:2q24.3 |
pathogenic |
| NM_001165963.4(SCN1A):c.3173_3176del (p.Lys1058fs) |
microsatellite |
Early infantile epileptic encephalopathy with suppression bursts [RCV001228328]|Severe myoclonic epilepsy in infancy [RCV002510589] |
Chr2:166036301..166036304 [GRCh38]
Chr2:166892811..166892814 [GRCh37]
Chr2:2q24.3 |
pathogenic |
| NC_000002.12:g.(?_165112865)_(166311776_?)dup |
duplication |
Early infantile epileptic encephalopathy with suppression bursts [RCV001033802]|not provided [RCV001346192] |
Chr2:165969375..167168286 [GRCh37]
Chr2:2q24.3 |
uncertain significance|no classifications from unflagged records |
| NM_001165963.4(SCN1A):c.1220T>A (p.Ile407Asn) |
single nucleotide variant |
Early infantile epileptic encephalopathy with suppression bursts [RCV001052269] |
Chr2:166046927 [GRCh38]
Chr2:166903437 [GRCh37]
Chr2:2q24.3 |
likely pathogenic|uncertain significance |
| NM_001165963.4(SCN1A):c.3478G>A (p.Gly1160Ser) |
single nucleotide variant |
Early infantile epileptic encephalopathy with suppression bursts [RCV001230963]|Migraine, familial hemiplegic, 3 [RCV002504309] |
Chr2:166015679 [GRCh38]
Chr2:166872189 [GRCh37]
Chr2:2q24.3 |
benign|uncertain significance |
| NM_001165963.4(SCN1A):c.4325T>C (p.Val1442Ala) |
single nucleotide variant |
Early infantile epileptic encephalopathy with suppression bursts [RCV001205592] |
Chr2:165999736 [GRCh38]
Chr2:166856246 [GRCh37]
Chr2:2q24.3 |
uncertain significance |
| NM_001165963.4(SCN1A):c.5126C>A (p.Thr1709Asn) |
single nucleotide variant |
Early infantile epileptic encephalopathy with suppression bursts [RCV001862677]|not provided [RCV001090359] |
Chr2:165992149 [GRCh38]
Chr2:166848659 [GRCh37]
Chr2:2q24.3 |
uncertain significance |
| NM_001165963.4(SCN1A):c.4764T>A (p.Cys1588Ter) |
single nucleotide variant |
not provided [RCV001090362] |
Chr2:165994234 [GRCh38]
Chr2:166850744 [GRCh37]
Chr2:2q24.3 |
pathogenic |
| NM_001165963.4(SCN1A):c.2947G>T (p.Val983Phe) |
single nucleotide variant |
Early infantile epileptic encephalopathy with suppression bursts [RCV001213249] |
Chr2:166036530 [GRCh38]
Chr2:166893040 [GRCh37]
Chr2:2q24.3 |
likely pathogenic |
| NM_001165963.4(SCN1A):c.606C>A (p.Tyr202Ter) |
single nucleotide variant |
Severe myoclonic epilepsy in infancy [RCV001250741] |
Chr2:166052940 [GRCh38]
Chr2:166909450 [GRCh37]
Chr2:2q24.3 |
likely pathogenic |
| NM_001165963.4(SCN1A):c.4775T>C (p.Leu1592Pro) |
single nucleotide variant |
Early infantile epileptic encephalopathy with suppression bursts [RCV001202705] |
Chr2:165994223 [GRCh38]
Chr2:166850733 [GRCh37]
Chr2:2q24.3 |
likely pathogenic|uncertain significance |
| NM_001165963.4(SCN1A):c.1922_1923delinsATC (p.Met641fs) |
indel |
Migraine, familial hemiplegic, 3 [RCV001197624] |
Chr2:166043789..166043790 [GRCh38]
Chr2:166900299..166900300 [GRCh37]
Chr2:2q24.3 |
likely pathogenic |
| NM_001165963.4(SCN1A):c.5176T>G (p.Trp1726Gly) |
single nucleotide variant |
Early infantile epileptic encephalopathy with suppression bursts [RCV001208194] |
Chr2:165992099 [GRCh38]
Chr2:166848609 [GRCh37]
Chr2:2q24.3 |
uncertain significance |
| NM_001165963.4(SCN1A):c.4351C>G (p.Pro1451Ala) |
single nucleotide variant |
Early infantile epileptic encephalopathy with suppression bursts [RCV001219623] |
Chr2:165998163 [GRCh38]
Chr2:166854673 [GRCh37]
Chr2:2q24.3 |
pathogenic |
| NM_001165963.4(SCN1A):c.1170+5G>T |
single nucleotide variant |
Early infantile epileptic encephalopathy with suppression bursts [RCV001055624] |
Chr2:166047622 [GRCh38]
Chr2:166904132 [GRCh37]
Chr2:2q24.3 |
uncertain significance |
| NM_001165963.4(SCN1A):c.5092G>A (p.Glu1698Lys) |
single nucleotide variant |
Early infantile epileptic encephalopathy with suppression bursts [RCV001041410]|Migraine, familial hemiplegic, 3 [RCV002481886] |
Chr2:165992183 [GRCh38]
Chr2:166848693 [GRCh37]
Chr2:2q24.3 |
uncertain significance |
| NM_001165963.4(SCN1A):c.2363A>T (p.Glu788Val) |
single nucleotide variant |
Early infantile epileptic encephalopathy with suppression bursts [RCV001059739] |
Chr2:166041283 [GRCh38]
Chr2:166897793 [GRCh37]
Chr2:2q24.3 |
likely pathogenic|uncertain significance |
| NM_001165963.4(SCN1A):c.5396C>G (p.Pro1799Arg) |
single nucleotide variant |
Early infantile epileptic encephalopathy with suppression bursts [RCV001053981] |
Chr2:165991879 [GRCh38]
Chr2:166848389 [GRCh37]
Chr2:2q24.3 |
uncertain significance |
| NM_001165963.4(SCN1A):c.602+3_602+6del |
deletion |
Migraine, familial hemiplegic, 3 [RCV001198246]|not specified [RCV002249785] |
Chr2:166054632..166054635 [GRCh38]
Chr2:166911142..166911145 [GRCh37]
Chr2:2q24.3 |
likely pathogenic|uncertain significance |
| NM_001165963.4(SCN1A):c.941G>A (p.Trp314Ter) |
single nucleotide variant |
Migraine, familial hemiplegic, 3 [RCV001197011] |
Chr2:166051742 [GRCh38]
Chr2:166908252 [GRCh37]
Chr2:2q24.3 |
likely pathogenic |
| NM_001165963.4(SCN1A):c.2624C>G (p.Thr875Arg) |
single nucleotide variant |
Early infantile epileptic encephalopathy with suppression bursts [RCV001035614] |
Chr2:166038098 [GRCh38]
Chr2:166894608 [GRCh37]
Chr2:2q24.3 |
uncertain significance |
| GRCh37/hg19 2q24.3(chr2:166610320-167356086)x1 |
copy number loss |
not provided [RCV001005354] |
Chr2:166610320..167356086 [GRCh37]
Chr2:2q24.3 |
pathogenic |
| NM_001165963.4(SCN1A):c.264+3G>C |
single nucleotide variant |
Early infantile epileptic encephalopathy with suppression bursts [RCV001064399] |
Chr2:166073355 [GRCh38]
Chr2:166929865 [GRCh37]
Chr2:2q24.3 |
likely pathogenic |
| NM_001165963.4(SCN1A):c.1463del (p.Lys488fs) |
deletion |
Early infantile epileptic encephalopathy with suppression bursts [RCV001064422] |
Chr2:166045242 [GRCh38]
Chr2:166901752 [GRCh37]
Chr2:2q24.3 |
pathogenic |
| NM_001165963.4(SCN1A):c.1813_1822del (p.Arg605fs) |
deletion |
not provided [RCV001092947] |
Chr2:166043890..166043899 [GRCh38]
Chr2:166900400..166900409 [GRCh37]
Chr2:2q24.3 |
pathogenic |
| NM_001165963.4(SCN1A):c.1160T>C (p.Leu387Pro) |
single nucleotide variant |
Early infantile epileptic encephalopathy with suppression bursts [RCV001212430] |
Chr2:166047637 [GRCh38]
Chr2:166904147 [GRCh37]
Chr2:2q24.3 |
likely pathogenic |
| NM_001165963.4(SCN1A):c.2806G>A (p.Asp936Asn) |
single nucleotide variant |
Early infantile epileptic encephalopathy with suppression bursts [RCV001230009] |
Chr2:166037916 [GRCh38]
Chr2:166894426 [GRCh37]
Chr2:2q24.3 |
uncertain significance |
| NM_001165963.4(SCN1A):c.4316A>G (p.Tyr1439Cys) |
single nucleotide variant |
Early infantile epileptic encephalopathy with suppression bursts [RCV001054489] |
Chr2:165999745 [GRCh38]
Chr2:166856255 [GRCh37]
Chr2:2q24.3 |
uncertain significance |
| NM_001165963.4(SCN1A):c.2415+2T>C |
single nucleotide variant |
Severe myoclonic epilepsy in infancy [RCV001027711] |
Chr2:166041229 [GRCh38]
Chr2:166897739 [GRCh37]
Chr2:2q24.3 |
likely pathogenic |
| NM_001165963.4(SCN1A):c.344A>G (p.Asn115Ser) |
single nucleotide variant |
Early infantile epileptic encephalopathy with suppression bursts [RCV001040645]|not provided [RCV002290565] |
Chr2:166058609 [GRCh38]
Chr2:166915119 [GRCh37]
Chr2:2q24.3 |
likely pathogenic|uncertain significance |
| NM_001165963.4(SCN1A):c.680T>C (p.Ile227Thr) |
single nucleotide variant |
Migraine, familial hemiplegic, 3 [RCV001195991]|not provided [RCV002280166] |
Chr2:166052866 [GRCh38]
Chr2:166909376 [GRCh37]
Chr2:2q24.3 |
pathogenic|likely pathogenic |
| NM_001165963.4(SCN1A):c.2928G>A (p.Met976Ile) |
single nucleotide variant |
Early infantile epileptic encephalopathy with suppression bursts [RCV001230259] |
Chr2:166037794 [GRCh38]
Chr2:166894304 [GRCh37]
Chr2:2q24.3 |
pathogenic|likely pathogenic |
| NM_001165963.4(SCN1A):c.468T>G (p.Asn156Lys) |
single nucleotide variant |
Early infantile epileptic encephalopathy with suppression bursts [RCV001201866] |
Chr2:166056416 [GRCh38]
Chr2:166912926 [GRCh37]
Chr2:2q24.3 |
uncertain significance |
| NM_001165963.4(SCN1A):c.2266A>T (p.Lys756Ter) |
single nucleotide variant |
Early infantile epileptic encephalopathy with suppression bursts [RCV001050864] |
Chr2:166041380 [GRCh38]
Chr2:166897890 [GRCh37]
Chr2:2q24.3 |
pathogenic |
| NM_001165963.4(SCN1A):c.*1125T>G |
single nucleotide variant |
Generalized epilepsy with febrile seizures plus, type 2 [RCV001131974]|Migraine, familial hemiplegic, 3 [RCV001131973] |
Chr2:165990120 [GRCh38]
Chr2:166846630 [GRCh37]
Chr2:2q24.3 |
uncertain significance |
| NM_001165963.4(SCN1A):c.*186G>A |
single nucleotide variant |
Generalized epilepsy with febrile seizures plus, type 2 [RCV001132092]|Migraine, familial hemiplegic, 3 [RCV001132093] |
Chr2:165991059 [GRCh38]
Chr2:166847569 [GRCh37]
Chr2:2q24.3 |
uncertain significance |
| NM_001165963.4(SCN1A):c.4581+4A>G |
single nucleotide variant |
not provided [RCV001200254] |
Chr2:165996009 [GRCh38]
Chr2:166852519 [GRCh37]
Chr2:2q24.3 |
uncertain significance |
| NM_001165963.4(SCN1A):c.3430-2A>G |
single nucleotide variant |
Early infantile epileptic encephalopathy with suppression bursts [RCV001230525] |
Chr2:166015729 [GRCh38]
Chr2:166872239 [GRCh37]
Chr2:2q24.3 |
pathogenic|likely pathogenic |
| NM_001165963.4(SCN1A):c.1888dup (p.Arg630fs) |
duplication |
Early infantile epileptic encephalopathy with suppression bursts [RCV001247969] |
Chr2:166043823..166043824 [GRCh38]
Chr2:166900333..166900334 [GRCh37]
Chr2:2q24.3 |
pathogenic |
| NM_001165963.4(SCN1A):c.*797T>C |
single nucleotide variant |
Generalized epilepsy with febrile seizures plus, type 2 [RCV001132926]|Migraine, familial hemiplegic, 3 [RCV001132925] |
Chr2:165990448 [GRCh38]
Chr2:166846958 [GRCh37]
Chr2:2q24.3 |
uncertain significance |
| NM_001165963.4(SCN1A):c.4002G>A (p.Arg1334=) |
single nucleotide variant |
Generalized epilepsy with febrile seizures plus, type 2 [RCV001133129]|Migraine, familial hemiplegic, 3 [RCV001133130] |
Chr2:166009719 [GRCh38]
Chr2:166866229 [GRCh37]
Chr2:2q24.3 |
uncertain significance |
| NM_001165963.4(SCN1A):c.4378T>C (p.Tyr1460His) |
single nucleotide variant |
Early infantile epileptic encephalopathy with suppression bursts [RCV003588715]|not provided [RCV001091661] |
Chr2:165998136 [GRCh38]
Chr2:166854646 [GRCh37]
Chr2:2q24.3 |
likely pathogenic|uncertain significance |
| NM_001165963.4(SCN1A):c.4915C>G (p.Arg1639Gly) |
single nucleotide variant |
Severe myoclonic epilepsy in infancy [RCV001003341] |
Chr2:165992360 [GRCh38]
Chr2:166848870 [GRCh37]
Chr2:2q24.3 |
pathogenic |
| NM_001165963.4(SCN1A):c.4210G>A (p.Glu1404Lys) |
single nucleotide variant |
Early infantile epileptic encephalopathy with suppression bursts [RCV001210924] |
Chr2:166002546 [GRCh38]
Chr2:166859056 [GRCh37]
Chr2:2q24.3 |
uncertain significance |
| NM_001165963.4(SCN1A):c.1144G>A (p.Asp382Asn) |
single nucleotide variant |
Early infantile epileptic encephalopathy with suppression bursts [RCV001037567] |
Chr2:166047653 [GRCh38]
Chr2:166904163 [GRCh37]
Chr2:2q24.3 |
pathogenic|likely pathogenic |
| NM_001165963.4(SCN1A):c.5006C>T (p.Ala1669Val) |
single nucleotide variant |
Early infantile epileptic encephalopathy with suppression bursts [RCV001041807] |
Chr2:165992269 [GRCh38]
Chr2:166848779 [GRCh37]
Chr2:2q24.3 |
uncertain significance |
| NM_001165963.4(SCN1A):c.3183T>A (p.Cys1061Ter) |
single nucleotide variant |
Early infantile epileptic encephalopathy with suppression bursts [RCV001233481] |
Chr2:166036294 [GRCh38]
Chr2:166892804 [GRCh37]
Chr2:2q24.3 |
pathogenic |
| NM_001165963.4(SCN1A):c.4693C>T (p.Gln1565Ter) |
single nucleotide variant |
Early infantile epileptic encephalopathy with suppression bursts [RCV001037740] |
Chr2:165994305 [GRCh38]
Chr2:166850815 [GRCh37]
Chr2:2q24.3 |
pathogenic |
| NM_001165963.4(SCN1A):c.4295A>T (p.Lys1432Ile) |
single nucleotide variant |
Early infantile epileptic encephalopathy with suppression bursts [RCV001037807] |
Chr2:165999766 [GRCh38]
Chr2:166856276 [GRCh37]
Chr2:2q24.3 |
pathogenic |
| NM_001165963.4(SCN1A):c.1010G>C (p.Gly337Ala) |
single nucleotide variant |
Early infantile epileptic encephalopathy with suppression bursts [RCV001062675] |
Chr2:166048904 [GRCh38]
Chr2:166905414 [GRCh37]
Chr2:2q24.3 |
pathogenic|uncertain significance |
| NM_001165963.4(SCN1A):c.2232_2233del (p.Phe745fs) |
microsatellite |
Early infantile epileptic encephalopathy with suppression bursts [RCV001062729] |
Chr2:166041413..166041414 [GRCh38]
Chr2:166897923..166897924 [GRCh37]
Chr2:2q24.3 |
pathogenic |
| GRCh37/hg19 2q24.3(chr2:166767837-167334206) |
copy number loss |
Severe myoclonic epilepsy in infancy [RCV001004096] |
Chr2:166767837..167334206 [GRCh37]
Chr2:2q24.3 |
pathogenic |
| NM_001165963.4(SCN1A):c.2295del (p.Met766fs) |
deletion |
Generalized epilepsy with febrile seizures plus, type 2 [RCV001004698] |
Chr2:166041351 [GRCh38]
Chr2:166897861 [GRCh37]
Chr2:2q24.3 |
pathogenic |
| NM_001165963.4(SCN1A):c.5717T>A (p.Ile1906Asn) |
single nucleotide variant |
Early infantile epileptic encephalopathy with suppression bursts [RCV001216421] |
Chr2:165991558 [GRCh38]
Chr2:166848068 [GRCh37]
Chr2:2q24.3 |
uncertain significance |
| NM_001165963.4(SCN1A):c.839G>A (p.Trp280Ter) |
single nucleotide variant |
Early infantile epileptic encephalopathy with suppression bursts [RCV001233783]|Generalized epilepsy with febrile seizures plus, type 2 [RCV002249823]|Migraine, familial hemiplegic, 3 [RCV002497799] |
Chr2:166051844 [GRCh38]
Chr2:166908354 [GRCh37]
Chr2:2q24.3 |
pathogenic |
| NM_001165963.4(SCN1A):c.5536A>G (p.Lys1846Glu) |
single nucleotide variant |
Early infantile epileptic encephalopathy with suppression bursts [RCV001214415]|not provided [RCV002508297] |
Chr2:165991739 [GRCh38]
Chr2:166848249 [GRCh37]
Chr2:2q24.3 |
uncertain significance |
| NM_001165963.4(SCN1A):c.280A>T (p.Asn94Tyr) |
single nucleotide variant |
Early infantile epileptic encephalopathy with suppression bursts [RCV001062966] |
Chr2:166058673 [GRCh38]
Chr2:166915183 [GRCh37]
Chr2:2q24.3 |
pathogenic|uncertain significance |
| NC_000002.12:g.(?_165898666)_(166311776_?)del |
deletion |
Early infantile epileptic encephalopathy with suppression bursts [RCV001033845] |
Chr2:166755176..167168286 [GRCh37]
Chr2:2q24.3 |
pathogenic |
| NM_001165963.4(SCN1A):c.3827A>T (p.Tyr1276Phe) |
single nucleotide variant |
Early infantile epileptic encephalopathy with suppression bursts [RCV001056848]|Inborn genetic diseases [RCV003259069] |
Chr2:166012161 [GRCh38]
Chr2:166868671 [GRCh37]
Chr2:2q24.3 |
uncertain significance |
| NM_001165963.4(SCN1A):c.4852+2T>A |
single nucleotide variant |
not provided [RCV001090361] |
Chr2:165994144 [GRCh38]
Chr2:166850654 [GRCh37]
Chr2:2q24.3 |
likely pathogenic |
| NM_001165963.4(SCN1A):c.1888C>T (p.Arg630Trp) |
single nucleotide variant |
Early infantile epileptic encephalopathy with suppression bursts [RCV001034079] |
Chr2:166043824 [GRCh38]
Chr2:166900334 [GRCh37]
Chr2:2q24.3 |
likely benign |
| NM_001165963.4(SCN1A):c.487_496del (p.Gly163fs) |
deletion |
Early infantile epileptic encephalopathy with suppression bursts [RCV001042838] |
Chr2:166054744..166054753 [GRCh38]
Chr2:166911254..166911263 [GRCh37]
Chr2:2q24.3 |
pathogenic |
| NM_001165963.4(SCN1A):c.2164A>G (p.Asn722Asp) |
single nucleotide variant |
Early infantile epileptic encephalopathy with suppression bursts [RCV001063218] |
Chr2:166042304 [GRCh38]
Chr2:166898814 [GRCh37]
Chr2:2q24.3 |
uncertain significance |
| NM_001165963.4(SCN1A):c.2710T>G (p.Phe904Val) |
single nucleotide variant |
Severe myoclonic epilepsy in infancy [RCV001095650] |
Chr2:166038012 [GRCh38]
Chr2:166894522 [GRCh37]
Chr2:2q24.3 |
uncertain significance |
| NM_001165963.4(SCN1A):c.3551-12C>T |
single nucleotide variant |
Early infantile epileptic encephalopathy with suppression bursts [RCV002070514]|Generalized epilepsy with febrile seizures plus, type 2 [RCV001129576]|Migraine, familial hemiplegic, 3 [RCV001129577] |
Chr2:166013910 [GRCh38]
Chr2:166870420 [GRCh37]
Chr2:2q24.3 |
likely benign|uncertain significance |
| NM_001165963.4(SCN1A):c.700A>G (p.Lys234Glu) |
single nucleotide variant |
Early infantile epileptic encephalopathy with suppression bursts [RCV001053323]|not provided [RCV003457928] |
Chr2:166051983 [GRCh38]
Chr2:166908493 [GRCh37]
Chr2:2q24.3 |
uncertain significance |
| NM_001165963.4(SCN1A):c.4324G>T (p.Val1442Phe) |
single nucleotide variant |
Severe myoclonic epilepsy in infancy [RCV001194674] |
Chr2:165999737 [GRCh38]
Chr2:166856247 [GRCh37]
Chr2:2q24.3 |
likely pathogenic|conflicting interpretations of pathogenicity |
| NM_001165963.4(SCN1A):c.602C>T (p.Ala201Val) |
single nucleotide variant |
Early infantile epileptic encephalopathy with suppression bursts [RCV001229412] |
Chr2:166054638 [GRCh38]
Chr2:166911148 [GRCh37]
Chr2:2q24.3 |
likely pathogenic|uncertain significance |
| NM_001165963.4(SCN1A):c.3926T>A (p.Leu1309His) |
single nucleotide variant |
Early infantile epileptic encephalopathy with suppression bursts [RCV001039489] |
Chr2:166009795 [GRCh38]
Chr2:166866305 [GRCh37]
Chr2:2q24.3 |
pathogenic |
| NM_001165963.4(SCN1A):c.5129T>C (p.Phe1710Ser) |
single nucleotide variant |
Early infantile epileptic encephalopathy with suppression bursts [RCV001228636] |
Chr2:165992146 [GRCh38]
Chr2:166848656 [GRCh37]
Chr2:2q24.3 |
likely pathogenic|uncertain significance |
| NM_001165963.4(SCN1A):c.25C>G (p.Pro9Ala) |
single nucleotide variant |
Early infantile epileptic encephalopathy with suppression bursts [RCV001063890] |
Chr2:166073597 [GRCh38]
Chr2:166930107 [GRCh37]
Chr2:2q24.3 |
uncertain significance |
| NM_001165963.4(SCN1A):c.3686T>C (p.Leu1229Pro) |
single nucleotide variant |
Generalized epilepsy with febrile seizures plus, type 2 [RCV001253246] |
Chr2:166013763 [GRCh38]
Chr2:166870273 [GRCh37]
Chr2:2q24.3 |
uncertain significance |
| NM_001165963.4(SCN1A):c.1072C>G (p.Pro358Ala) |
single nucleotide variant |
Severe myoclonic epilepsy in infancy [RCV001253422] |
Chr2:166047725 [GRCh38]
Chr2:166904235 [GRCh37]
Chr2:2q24.3 |
likely pathogenic |
| NM_001165963.4(SCN1A):c.4676T>C (p.Met1559Thr) |
single nucleotide variant |
Early infantile epileptic encephalopathy with suppression bursts [RCV002549243]|Microcephaly [RCV001252702] |
Chr2:165994322 [GRCh38]
Chr2:166850832 [GRCh37]
Chr2:2q24.3 |
likely pathogenic|uncertain significance |
| NM_001165963.4(SCN1A):c.841C>T (p.Pro281Ser) |
single nucleotide variant |
Early infantile epileptic encephalopathy with suppression bursts [RCV002570533]|Generalized epilepsy with febrile seizures plus, type 2 [RCV001253537] |
Chr2:166051842 [GRCh38]
Chr2:166908352 [GRCh37]
Chr2:2q24.3 |
uncertain significance |
| NM_001165963.4(SCN1A):c.986del (p.Gly329fs) |
deletion |
Generalized epilepsy with febrile seizures plus, type 2 [RCV001253752] |
Chr2:166048928 [GRCh38]
Chr2:166905438 [GRCh37]
Chr2:2q24.3 |
pathogenic |
| GRCh37/hg19 2q24.3(chr2:166340583-166904859) |
copy number loss |
Microcephaly [RCV001252946] |
Chr2:166340583..166904859 [GRCh37]
Chr2:2q24.3 |
pathogenic |
| NM_001165963.4(SCN1A):c.833T>A (p.Ile278Lys) |
single nucleotide variant |
Generalized epilepsy with febrile seizures plus, type 2 [RCV001253337] |
Chr2:166051850 [GRCh38]
Chr2:166908360 [GRCh37]
Chr2:2q24.3 |
likely pathogenic |
| NM_001165963.4(SCN1A):c.485C>T (p.Thr162Ile) |
single nucleotide variant |
Early infantile epileptic encephalopathy with suppression bursts [RCV001879864]|Severe myoclonic epilepsy in infancy [RCV001253083]|not provided [RCV003325310] |
Chr2:166054755 [GRCh38]
Chr2:166911265 [GRCh37]
Chr2:2q24.3 |
pathogenic|likely pathogenic |
| NM_001165963.4(SCN1A):c.5797C>A (p.Arg1933=) |
single nucleotide variant |
Early infantile epileptic encephalopathy with suppression bursts [RCV003588725]|not specified [RCV001251345] |
Chr2:165991478 [GRCh38]
Chr2:166847988 [GRCh37]
Chr2:2q24.3 |
likely benign |
| NM_001165963.4(SCN1A):c.4417T>C (p.Phe1473Leu) |
single nucleotide variant |
Generalized epilepsy with febrile seizures plus, type 2 [RCV001253687] |
Chr2:165998097 [GRCh38]
Chr2:166854607 [GRCh37]
Chr2:2q24.3 |
uncertain significance |
| NM_001165963.4(SCN1A):c.5343del (p.Met1780_Tyr1781insTer) |
deletion |
Severe myoclonic epilepsy in infancy [RCV001253471] |
Chr2:165991932 [GRCh38]
Chr2:166848442 [GRCh37]
Chr2:2q24.3 |
pathogenic |
| NM_001165963.4(SCN1A):c.2963T>G (p.Leu988Arg) |
single nucleotide variant |
Severe myoclonic epilepsy in infancy [RCV001256670] |
Chr2:166036514 [GRCh38]
Chr2:166893024 [GRCh37]
Chr2:2q24.3 |
likely pathogenic |
| NM_001165963.4(SCN1A):c.4250A>T (p.Asn1417Ile) |
single nucleotide variant |
Inborn genetic diseases [RCV001267495] |
Chr2:166002506 [GRCh38]
Chr2:166859016 [GRCh37]
Chr2:2q24.3 |
uncertain significance |
| NM_001165963.4(SCN1A):c.2416-35_2419dup |
duplication |
Early infantile epileptic encephalopathy with suppression bursts [RCV001304281] |
Chr2:166039592..166039593 [GRCh38]
Chr2:166896102..166896103 [GRCh37]
Chr2:2q24.3 |
uncertain significance |
| GRCh37/hg19 2q24.3(chr2:166727499-167386594)x3 |
copy number gain |
not provided [RCV001258557] |
Chr2:166727499..167386594 [GRCh37]
Chr2:2q24.3 |
uncertain significance |
| NM_001165963.4(SCN1A):c.4027G>A (p.Ala1343Thr) |
single nucleotide variant |
not provided [RCV001311215] |
Chr2:166002729 [GRCh38]
Chr2:166859239 [GRCh37]
Chr2:2q24.3 |
uncertain significance |
| NM_001165963.4(SCN1A):c.4284+4A>C |
single nucleotide variant |
Generalized epilepsy with febrile seizures plus, type 2 [RCV001262959] |
Chr2:166002468 [GRCh38]
Chr2:166858978 [GRCh37]
Chr2:2q24.3 |
likely pathogenic |
| NM_001165963.4(SCN1A):c.986G>C (p.Gly329Ala) |
single nucleotide variant |
Early infantile epileptic encephalopathy with suppression bursts [RCV002546700]|Severe myoclonic epilepsy in infancy [RCV001334845] |
Chr2:166048928 [GRCh38]
Chr2:166905438 [GRCh37]
Chr2:2q24.3 |
pathogenic|likely pathogenic |
| NM_001165963.4(SCN1A):c.2393_2404del (p.Asn798_Val802delinsIle) |
deletion |
Severe myoclonic epilepsy in infancy [RCV001255862] |
Chr2:166041242..166041253 [GRCh38]
Chr2:166897752..166897763 [GRCh37]
Chr2:2q24.3 |
likely pathogenic |
| NM_001165963.4(SCN1A):c.5717T>C (p.Ile1906Thr) |
single nucleotide variant |
not provided [RCV001311211] |
Chr2:165991558 [GRCh38]
Chr2:166848068 [GRCh37]
Chr2:2q24.3 |
uncertain significance |
| NM_001165963.4(SCN1A):c.629G>A (p.Gly210Asp) |
single nucleotide variant |
Generalized epilepsy with febrile seizures plus, type 2 [RCV001262229]|Severe myoclonic epilepsy in infancy [RCV001775164] |
Chr2:166052917 [GRCh38]
Chr2:166909427 [GRCh37]
Chr2:2q24.3 |
likely pathogenic |
| NM_001165963.4(SCN1A):c.1134_1147dup (p.Phe383Ter) |
duplication |
Inborn genetic diseases [RCV001266954] |
Chr2:166047649..166047650 [GRCh38]
Chr2:166904159..166904160 [GRCh37]
Chr2:2q24.3 |
pathogenic |
| NM_001165963.4(SCN1A):c.3879+4G>T |
single nucleotide variant |
Early infantile epileptic encephalopathy with suppression bursts [RCV001907958] |
Chr2:166012105 [GRCh38]
Chr2:166868615 [GRCh37]
Chr2:2q24.3 |
uncertain significance |
| NM_001165963.4(SCN1A):c.5653C>G (p.Leu1885Val) |
single nucleotide variant |
Generalized epilepsy with febrile seizures plus, type 2 [RCV001262230] |
Chr2:165991622 [GRCh38]
Chr2:166848132 [GRCh37]
Chr2:2q24.3 |
uncertain significance |
| NM_001165963.4(SCN1A):c.3844A>G (p.Asn1282Asp) |
single nucleotide variant |
Severe myoclonic epilepsy in infancy [RCV001260496] |
Chr2:166012144 [GRCh38]
Chr2:166868654 [GRCh37]
Chr2:2q24.3 |
uncertain significance |
| NM_001165963.4(SCN1A):c.2680dup (p.Thr894fs) |
duplication |
Severe myoclonic epilepsy in infancy [RCV001260587] |
Chr2:166038041..166038042 [GRCh38]
Chr2:166894551..166894552 [GRCh37]
Chr2:2q24.3 |
pathogenic |
| NM_001165963.4(SCN1A):c.2201G>A (p.Cys734Tyr) |
single nucleotide variant |
Early infantile epileptic encephalopathy with suppression bursts [RCV001859317]|Generalized epilepsy with febrile seizures plus, type 2 [RCV001333847]|Severe myoclonic epilepsy in infancy [RCV001542305]|not provided [RCV001773669] |
Chr2:166041445 [GRCh38]
Chr2:166897955 [GRCh37]
Chr2:2q24.3 |
uncertain significance |
| NM_001165963.4(SCN1A):c.4064T>G (p.Leu1355Arg) |
single nucleotide variant |
Seizure [RCV001263093] |
Chr2:166002692 [GRCh38]
Chr2:166859202 [GRCh37]
Chr2:2q24.3 |
likely pathogenic |
| NM_001165963.4(SCN1A):c.4386C>G (p.Tyr1462Ter) |
single nucleotide variant |
not provided [RCV001531322] |
Chr2:165998128 [GRCh38]
Chr2:166854638 [GRCh37]
Chr2:2q24.3 |
pathogenic |
| NM_001165963.4(SCN1A):c.5173G>A (p.Gly1725Ser) |
single nucleotide variant |
Early infantile epileptic encephalopathy with suppression bursts [RCV003753171]|Severe myoclonic epilepsy in infancy [RCV001289475] |
Chr2:165992102 [GRCh38]
Chr2:166848612 [GRCh37]
Chr2:2q24.3 |
likely pathogenic |
| GRCh37/hg19 2p25.3-q37.3(chr2:1-243199373) |
copy number gain |
Mosaic trisomy 2 [RCV002280628] |
Chr2:1..243199373 [GRCh37]
Chr2:2p25.3-q37.3 |
pathogenic |
| GRCh37/hg19 2q24.2-31.3(chr2:163078055-182119617)x1 |
copy number loss |
2q24 microdeletion syndrome [RCV001263223] |
Chr2:163078055..182119617 [GRCh37]
Chr2:2q24.2-31.3 |
pathogenic |
| NM_001165963.4(SCN1A):c.2645T>C (p.Ile882Thr) |
single nucleotide variant |
Intellectual disability [RCV001257706] |
Chr2:166038077 [GRCh38]
Chr2:166894587 [GRCh37]
Chr2:2q24.3 |
uncertain significance |
| NM_001165963.4(SCN1A):c.1891A>G (p.Met631Val) |
single nucleotide variant |
Early infantile epileptic encephalopathy with suppression bursts [RCV001880017]|Intellectual disability [RCV001261382]|not provided [RCV001760305] |
Chr2:166043821 [GRCh38]
Chr2:166900331 [GRCh37]
Chr2:2q24.3 |
likely benign|uncertain significance |
| NM_001165963.4(SCN1A):c.5180A>G (p.Asp1727Gly) |
single nucleotide variant |
Severe myoclonic epilepsy in infancy [RCV001261536] |
Chr2:165992095 [GRCh38]
Chr2:166848605 [GRCh37]
Chr2:2q24.3 |
likely pathogenic |
| NM_001165963.4(SCN1A):c.1133del (p.Leu378fs) |
deletion |
Severe myoclonic epilepsy in infancy [RCV001255853]|Severe myoclonic epilepsy in infancy [RCV001528186] |
Chr2:166047664 [GRCh38]
Chr2:166904174 [GRCh37]
Chr2:2q24.3 |
pathogenic|likely pathogenic |
| NM_001165963.4(SCN1A):c.4300T>A (p.Trp1434Arg) |
single nucleotide variant |
Migraine, familial hemiplegic, 3 [RCV001328668]|not provided [RCV001507578] |
Chr2:165999761 [GRCh38]
Chr2:166856271 [GRCh37]
Chr2:2q24.3 |
likely pathogenic|uncertain significance |
| NM_001165963.4(SCN1A):c.5489A>C (p.Gln1830Pro) |
single nucleotide variant |
Early infantile epileptic encephalopathy with suppression bursts [RCV001326643]|Inborn genetic diseases [RCV003169533] |
Chr2:165991786 [GRCh38]
Chr2:166848296 [GRCh37]
Chr2:2q24.3 |
likely benign|uncertain significance |
| NM_001165963.4(SCN1A):c.1028+6T>C |
single nucleotide variant |
Early infantile epileptic encephalopathy with suppression bursts [RCV001309836] |
Chr2:166048880 [GRCh38]
Chr2:166905390 [GRCh37]
Chr2:2q24.3 |
uncertain significance |
| NM_001165963.4(SCN1A):c.1959G>C (p.Leu653Phe) |
single nucleotide variant |
Early infantile epileptic encephalopathy with suppression bursts [RCV001326800] |
Chr2:166043753 [GRCh38]
Chr2:166900263 [GRCh37]
Chr2:2q24.3 |
uncertain significance |
| NM_001165963.4(SCN1A):c.2477A>G (p.Tyr826Cys) |
single nucleotide variant |
Early infantile epileptic encephalopathy with suppression bursts [RCV001304776]|Migraine, familial hemiplegic, 3 [RCV002504461] |
Chr2:166039535 [GRCh38]
Chr2:166896045 [GRCh37]
Chr2:2q24.3 |
uncertain significance |
| NM_001165963.4(SCN1A):c.4339-16T>G |
single nucleotide variant |
Generalized epilepsy with febrile seizures plus, type 2 [RCV001328669] |
Chr2:165998191 [GRCh38]
Chr2:166854701 [GRCh37]
Chr2:2q24.3 |
uncertain significance |
| NM_001165963.4(SCN1A):c.1622A>G (p.Asn541Ser) |
single nucleotide variant |
Early infantile epileptic encephalopathy with suppression bursts [RCV001314009]|not provided [RCV002280177] |
Chr2:166045083 [GRCh38]
Chr2:166901593 [GRCh37]
Chr2:2q24.3 |
uncertain significance |
| NM_001165963.4(SCN1A):c.2173G>T (p.Glu725Ter) |
single nucleotide variant |
Early infantile epileptic encephalopathy with suppression bursts [RCV001871712]|not provided [RCV001288392] |
Chr2:166042295 [GRCh38]
Chr2:166898805 [GRCh37]
Chr2:2q24.3 |
pathogenic |
| NM_001165963.4(SCN1A):c.5551G>T (p.Ala1851Ser) |
single nucleotide variant |
Early infantile epileptic encephalopathy with suppression bursts [RCV001317496] |
Chr2:165991724 [GRCh38]
Chr2:166848234 [GRCh37]
Chr2:2q24.3 |
uncertain significance |
| NM_001165963.4(SCN1A):c.4230T>G (p.Asn1410Lys) |
single nucleotide variant |
not provided [RCV001288394] |
Chr2:166002526 [GRCh38]
Chr2:166859036 [GRCh37]
Chr2:2q24.3 |
uncertain significance |
| NM_001165963.4(SCN1A):c.4871T>C (p.Leu1624Pro) |
single nucleotide variant |
not provided [RCV001288396] |
Chr2:165992404 [GRCh38]
Chr2:166848914 [GRCh37]
Chr2:2q24.3 |
likely pathogenic |
| NM_001165963.4(SCN1A):c.821G>A (p.Arg274Lys) |
single nucleotide variant |
Early infantile epileptic encephalopathy with suppression bursts [RCV001871713]|not provided [RCV001288397] |
Chr2:166051862 [GRCh38]
Chr2:166908372 [GRCh37]
Chr2:2q24.3 |
uncertain significance |
| NM_001165963.4(SCN1A):c.119A>G (p.Asp40Gly) |
single nucleotide variant |
Early infantile epileptic encephalopathy with suppression bursts [RCV001305914] |
Chr2:166073503 [GRCh38]
Chr2:166930013 [GRCh37]
Chr2:2q24.3 |
likely benign|uncertain significance |
| NM_001165963.4(SCN1A):c.3862G>A (p.Asp1288Asn) |
single nucleotide variant |
Early infantile epileptic encephalopathy with suppression bursts [RCV001325214] |
Chr2:166012126 [GRCh38]
Chr2:166868636 [GRCh37]
Chr2:2q24.3 |
pathogenic|uncertain significance |
| NM_001165963.4(SCN1A):c.6006_6008del (p.Lys2002_Asp2003delinsAsn) |
deletion |
Early infantile epileptic encephalopathy with suppression bursts [RCV001315081] |
Chr2:165991267..165991269 [GRCh38]
Chr2:166847777..166847779 [GRCh37]
Chr2:2q24.3 |
uncertain significance |
| NM_001165963.4(SCN1A):c.2416-10T>G |
single nucleotide variant |
Early infantile epileptic encephalopathy with suppression bursts [RCV001296108] |
Chr2:166039606 [GRCh38]
Chr2:166896116 [GRCh37]
Chr2:2q24.3 |
uncertain significance |
| NM_001165963.4(SCN1A):c.5885A>G (p.Asp1962Gly) |
single nucleotide variant |
Early infantile epileptic encephalopathy with suppression bursts [RCV001299358] |
Chr2:165991390 [GRCh38]
Chr2:166847900 [GRCh37]
Chr2:2q24.3 |
uncertain significance |
| NM_001165963.4(SCN1A):c.4795T>G (p.Tyr1599Asp) |
single nucleotide variant |
Early infantile epileptic encephalopathy with suppression bursts [RCV001317962]|Generalized epilepsy with febrile seizures plus, type 2 [RCV003883607] |
Chr2:165994203 [GRCh38]
Chr2:166850713 [GRCh37]
Chr2:2q24.3 |
pathogenic|uncertain significance |
| NM_001165963.4(SCN1A):c.4282G>C (p.Val1428Leu) |
single nucleotide variant |
Early infantile epileptic encephalopathy with suppression bursts [RCV001326017] |
Chr2:166002474 [GRCh38]
Chr2:166858984 [GRCh37]
Chr2:2q24.3 |
uncertain significance |
| NM_001165963.4(SCN1A):c.4390G>T (p.Val1464Phe) |
single nucleotide variant |
Early infantile epileptic encephalopathy with suppression bursts [RCV001340178] |
Chr2:165998124 [GRCh38]
Chr2:166854634 [GRCh37]
Chr2:2q24.3 |
uncertain significance |
| NM_001165963.4(SCN1A):c.3430-3C>G |
single nucleotide variant |
Early infantile epileptic encephalopathy with suppression bursts [RCV001340375] |
Chr2:166015730 [GRCh38]
Chr2:166872240 [GRCh37]
Chr2:2q24.3 |
uncertain significance |
| NM_001165963.4(SCN1A):c.1920G>T (p.Lys640Asn) |
single nucleotide variant |
Early infantile epileptic encephalopathy with suppression bursts [RCV001325655] |
Chr2:166043792 [GRCh38]
Chr2:166900302 [GRCh37]
Chr2:2q24.3 |
uncertain significance |
| NM_001165963.4(SCN1A):c.5425T>C (p.Tyr1809His) |
single nucleotide variant |
Generalized epilepsy with febrile seizures plus, type 2 [RCV001294080] |
Chr2:165991850 [GRCh38]
Chr2:166848360 [GRCh37]
Chr2:2q24.3 |
uncertain significance |
| NM_001165963.4(SCN1A):c.1377G>A (p.Gln459=) |
single nucleotide variant |
not provided [RCV001311220] |
Chr2:166046770 [GRCh38]
Chr2:166903280 [GRCh37]
Chr2:2q24.3 |
uncertain significance |
| NM_001165963.4(SCN1A):c.1141C>A (p.Gln381Lys) |
single nucleotide variant |
Early infantile epileptic encephalopathy with suppression bursts [RCV002298929]|not provided [RCV001311221] |
Chr2:166047656 [GRCh38]
Chr2:166904166 [GRCh37]
Chr2:2q24.3 |
uncertain significance |
| NM_001165963.4(SCN1A):c.4580G>A (p.Gly1527Glu) |
single nucleotide variant |
Early infantile epileptic encephalopathy with suppression bursts [RCV001338092]|not provided [RCV003229046] |
Chr2:165996014 [GRCh38]
Chr2:166852524 [GRCh37]
Chr2:2q24.3 |
uncertain significance |
| NM_001165963.4(SCN1A):c.4910T>C (p.Val1637Ala) |
single nucleotide variant |
Early infantile epileptic encephalopathy with suppression bursts [RCV001306046] |
Chr2:165992365 [GRCh38]
Chr2:166848875 [GRCh37]
Chr2:2q24.3 |
uncertain significance |
| NM_001165963.4(SCN1A):c.1064G>T (p.Gly355Val) |
single nucleotide variant |
Early infantile epileptic encephalopathy with suppression bursts [RCV001313481] |
Chr2:166047733 [GRCh38]
Chr2:166904243 [GRCh37]
Chr2:2q24.3 |
uncertain significance |
| NM_001165963.4(SCN1A):c.502G>A (p.Glu168Lys) |
single nucleotide variant |
Early infantile epileptic encephalopathy with suppression bursts [RCV001321646] |
Chr2:166054738 [GRCh38]
Chr2:166911248 [GRCh37]
Chr2:2q24.3 |
uncertain significance |
| NM_001165963.4(SCN1A):c.1933G>T (p.Val645Leu) |
single nucleotide variant |
Early infantile epileptic encephalopathy with suppression bursts [RCV001312958] |
Chr2:166043779 [GRCh38]
Chr2:166900289 [GRCh37]
Chr2:2q24.3 |
uncertain significance |
| NM_001165963.4(SCN1A):c.1657C>T (p.His553Tyr) |
single nucleotide variant |
Early infantile epileptic encephalopathy with suppression bursts [RCV001350071] |
Chr2:166045048 [GRCh38]
Chr2:166901558 [GRCh37]
Chr2:2q24.3 |
uncertain significance |
| NM_001165963.4(SCN1A):c.1163A>G (p.Tyr388Cys) |
single nucleotide variant |
Early infantile epileptic encephalopathy with suppression bursts [RCV001300048] |
Chr2:166047634 [GRCh38]
Chr2:166904144 [GRCh37]
Chr2:2q24.3 |
likely pathogenic|uncertain significance |
| NM_001165963.4(SCN1A):c.5396C>A (p.Pro1799His) |
single nucleotide variant |
Early infantile epileptic encephalopathy with suppression bursts [RCV001337672] |
Chr2:165991879 [GRCh38]
Chr2:166848389 [GRCh37]
Chr2:2q24.3 |
uncertain significance |
| NC_000002.11:g.(?_166929868)_(167056374_?)dup |
duplication |
Early infantile epileptic encephalopathy with suppression bursts [RCV001319217] |
Chr2:166929868..167056374 [GRCh37]
Chr2:2q24.3 |
uncertain significance |
| NM_001165963.4(SCN1A):c.3760T>C (p.Tyr1254His) |
single nucleotide variant |
Early infantile epileptic encephalopathy with suppression bursts [RCV001306352] |
Chr2:166012228 [GRCh38]
Chr2:166868738 [GRCh37]
Chr2:2q24.3 |
uncertain significance |
| NM_001165963.4(SCN1A):c.3662A>G (p.Glu1221Gly) |
single nucleotide variant |
Early infantile epileptic encephalopathy with suppression bursts [RCV001300911] |
Chr2:166013787 [GRCh38]
Chr2:166870297 [GRCh37]
Chr2:2q24.3 |
likely pathogenic|uncertain significance |
| NM_001165963.4(SCN1A):c.1324del (p.Ala442fs) |
deletion |
Early infantile epileptic encephalopathy with suppression bursts [RCV001382620] |
Chr2:166046823 [GRCh38]
Chr2:166903333 [GRCh37]
Chr2:2q24.3 |
pathogenic |
| NM_001165963.4(SCN1A):c.2855G>A (p.Trp952Ter) |
single nucleotide variant |
Early infantile epileptic encephalopathy with suppression bursts [RCV001382869] |
Chr2:166037867 [GRCh38]
Chr2:166894377 [GRCh37]
Chr2:2q24.3 |
pathogenic |
| NM_001165963.4(SCN1A):c.4966_4969dup (p.Arg1657fs) |
duplication |
Early infantile epileptic encephalopathy with suppression bursts [RCV001383077] |
Chr2:165992305..165992306 [GRCh38]
Chr2:166848815..166848816 [GRCh37]
Chr2:2q24.3 |
pathogenic |
| NM_001165963.4(SCN1A):c.5435G>C (p.Trp1812Ser) |
single nucleotide variant |
Early infantile epileptic encephalopathy with suppression bursts [RCV001339386] |
Chr2:165991840 [GRCh38]
Chr2:166848350 [GRCh37]
Chr2:2q24.3 |
uncertain significance |
| NM_001165963.4(SCN1A):c.5673G>A (p.Glu1891=) |
single nucleotide variant |
Early infantile epileptic encephalopathy with suppression bursts [RCV001396620] |
Chr2:165991602 [GRCh38]
Chr2:166848112 [GRCh37]
Chr2:2q24.3 |
likely benign |
| NM_001165963.4(SCN1A):c.270T>C (p.Phe90=) |
single nucleotide variant |
Early infantile epileptic encephalopathy with suppression bursts [RCV001433093] |
Chr2:166058683 [GRCh38]
Chr2:166915193 [GRCh37]
Chr2:2q24.3 |
likely benign |
| NM_001165963.4(SCN1A):c.519T>G (p.Ile173Met) |
single nucleotide variant |
Early infantile epileptic encephalopathy with suppression bursts [RCV003771032]|Seizure [RCV001353144]|not provided [RCV003442866] |
Chr2:166054721 [GRCh38]
Chr2:166911231 [GRCh37]
Chr2:2q24.3 |
likely pathogenic|uncertain significance |
| NM_001165963.4(SCN1A):c.4262G>T (p.Gly1421Val) |
single nucleotide variant |
Early infantile epileptic encephalopathy with suppression bursts [RCV001374160] |
Chr2:166002494 [GRCh38]
Chr2:166859004 [GRCh37]
Chr2:2q24.3 |
uncertain significance |
| NM_001165963.4(SCN1A):c.4359T>G (p.Tyr1453Ter) |
single nucleotide variant |
Early infantile epileptic encephalopathy with suppression bursts [RCV001382665] |
Chr2:165998155 [GRCh38]
Chr2:166854665 [GRCh37]
Chr2:2q24.3 |
pathogenic |
| NM_001165963.4(SCN1A):c.4821T>G (p.Phe1607Leu) |
single nucleotide variant |
not provided [RCV001288395] |
Chr2:165994177 [GRCh38]
Chr2:166850687 [GRCh37]
Chr2:2q24.3 |
uncertain significance |
| NM_001165963.4(SCN1A):c.3660T>G (p.Phe1220Leu) |
single nucleotide variant |
Early infantile epileptic encephalopathy with suppression bursts [RCV001374298] |
Chr2:166013789 [GRCh38]
Chr2:166870299 [GRCh37]
Chr2:2q24.3 |
pathogenic|uncertain significance |
| NM_001165963.4(SCN1A):c.3612G>A (p.Trp1204Ter) |
single nucleotide variant |
Early infantile epileptic encephalopathy with suppression bursts [RCV001390716]|Severe myoclonic epilepsy in infancy [RCV001375622] |
Chr2:166013837 [GRCh38]
Chr2:166870347 [GRCh37]
Chr2:2q24.3 |
pathogenic |
| NM_001165963.4(SCN1A):c.265del (p.Thr89fs) |
deletion |
Generalized epilepsy with febrile seizures plus, type 2 [RCV001537934] |
Chr2:166058688 [GRCh38]
Chr2:166915198 [GRCh37]
Chr2:2q24.3 |
likely pathogenic |
| NM_001165963.4(SCN1A):c.2284A>C (p.Asn762His) |
single nucleotide variant |
Early infantile epileptic encephalopathy with suppression bursts [RCV001422558] |
Chr2:166041362 [GRCh38]
Chr2:166897872 [GRCh37]
Chr2:2q24.3 |
likely benign |
| NM_001165963.4(SCN1A):c.3977C>A (p.Ala1326Asp) |
single nucleotide variant |
Early infantile epileptic encephalopathy with suppression bursts [RCV001385510]|Neurodevelopmental disorder [RCV001374977] |
Chr2:166009744 [GRCh38]
Chr2:166866254 [GRCh37]
Chr2:2q24.3 |
pathogenic|likely pathogenic |
| NM_001165963.4(SCN1A):c.3391G>A (p.Asp1131Asn) |
single nucleotide variant |
Early infantile epileptic encephalopathy with suppression bursts [RCV001871921]|not provided [RCV001354446] |
Chr2:166036086 [GRCh38]
Chr2:166892596 [GRCh37]
Chr2:2q24.3 |
uncertain significance |
| NM_001165963.4(SCN1A):c.1264G>T (p.Val422Leu) |
single nucleotide variant |
Developmental and epileptic encephalopathy 6B [RCV001420525] |
Chr2:166046883 [GRCh38]
Chr2:166903393 [GRCh37]
Chr2:2q24.3 |
pathogenic |
| NM_001165963.4(SCN1A):c.4524T>C (p.Tyr1508=) |
single nucleotide variant |
Early infantile epileptic encephalopathy with suppression bursts [RCV001396622]|not provided [RCV002286845] |
Chr2:165996070 [GRCh38]
Chr2:166852580 [GRCh37]
Chr2:2q24.3 |
likely benign|conflicting interpretations of pathogenicity|uncertain significance |
| NM_001165963.4(SCN1A):c.3625A>T (p.Arg1209Trp) |
single nucleotide variant |
West syndrome [RCV001375623] |
Chr2:166013824 [GRCh38]
Chr2:166870334 [GRCh37]
Chr2:2q24.3 |
uncertain significance |
| NM_001165963.4(SCN1A):c.1396G>A (p.Ala466Thr) |
single nucleotide variant |
not provided [RCV001355740] |
Chr2:166045309 [GRCh38]
Chr2:166901819 [GRCh37]
Chr2:2q24.3 |
uncertain significance |
| NM_001165963.4(SCN1A):c.4357T>G (p.Tyr1453Asp) |
single nucleotide variant |
Sudden unexplained death in childhood [RCV001787424] |
Chr2:165998157 [GRCh38]
Chr2:166854667 [GRCh37]
Chr2:2q24.3 |
likely pathogenic |
| NM_001165963.4(SCN1A):c.5198_5201dup (p.Asn1735fs) |
duplication |
Early infantile epileptic encephalopathy with suppression bursts [RCV001383127] |
Chr2:165992073..165992074 [GRCh38]
Chr2:166848583..166848584 [GRCh37]
Chr2:2q24.3 |
pathogenic |
| NM_001165963.4(SCN1A):c.1294G>C (p.Ala432Pro) |
single nucleotide variant |
Early infantile epileptic encephalopathy with suppression bursts [RCV003753178]|Epilepsy [RCV001375628]|not provided [RCV002466672] |
Chr2:166046853 [GRCh38]
Chr2:166903363 [GRCh37]
Chr2:2q24.3 |
pathogenic|likely pathogenic|uncertain significance |
| NM_001165963.4(SCN1A):c.3807A>C (p.Leu1269=) |
single nucleotide variant |
Early infantile epileptic encephalopathy with suppression bursts [RCV001397460] |
Chr2:166012181 [GRCh38]
Chr2:166868691 [GRCh37]
Chr2:2q24.3 |
likely benign |
| NM_001165963.4(SCN1A):c.2871G>C (p.Trp957Cys) |
single nucleotide variant |
Early infantile epileptic encephalopathy with suppression bursts [RCV001370933] |
Chr2:166037851 [GRCh38]
Chr2:166894361 [GRCh37]
Chr2:2q24.3 |
uncertain significance |
| NM_001165963.4(SCN1A):c.5581C>T (p.Arg1861Trp) |
single nucleotide variant |
Early infantile epileptic encephalopathy with suppression bursts [RCV001366596]|Seizure [RCV001353143] |
Chr2:165991694 [GRCh38]
Chr2:166848204 [GRCh37]
Chr2:2q24.3 |
pathogenic|likely pathogenic|uncertain significance |
| NM_001165963.4(SCN1A):c.3019A>G (p.Asn1007Asp) |
single nucleotide variant |
Early infantile epileptic encephalopathy with suppression bursts [RCV001304362] |
Chr2:166036458 [GRCh38]
Chr2:166892968 [GRCh37]
Chr2:2q24.3 |
uncertain significance |
| NM_001165963.4(SCN1A):c.2691G>C (p.Leu897Phe) |
single nucleotide variant |
not provided [RCV001311217] |
Chr2:166038031 [GRCh38]
Chr2:166894541 [GRCh37]
Chr2:2q24.3 |
likely pathogenic |
| NM_001165963.4(SCN1A):c.2336T>C (p.Val779Ala) |
single nucleotide variant |
not provided [RCV001311219] |
Chr2:166041310 [GRCh38]
Chr2:166897820 [GRCh37]
Chr2:2q24.3 |
uncertain significance |
| NM_001165963.4(SCN1A):c.479C>A (p.Thr160Asn) |
single nucleotide variant |
Early infantile epileptic encephalopathy with suppression bursts [RCV001294436]|Severe myoclonic epilepsy in infancy [RCV002466267] |
Chr2:166054761 [GRCh38]
Chr2:166911271 [GRCh37]
Chr2:2q24.3 |
likely pathogenic|uncertain significance |
| NM_001165963.4(SCN1A):c.2754T>C (p.Asp918=) |
single nucleotide variant |
Early infantile epileptic encephalopathy with suppression bursts [RCV001397256] |
Chr2:166037968 [GRCh38]
Chr2:166894478 [GRCh37]
Chr2:2q24.3 |
likely benign |
| NM_001165963.4(SCN1A):c.655A>G (p.Arg219Gly) |
single nucleotide variant |
Early infantile epileptic encephalopathy with suppression bursts [RCV001296131]|not provided [RCV001311223] |
Chr2:166052891 [GRCh38]
Chr2:166909401 [GRCh37]
Chr2:2q24.3 |
pathogenic|likely pathogenic|uncertain significance |
| NM_001165963.4(SCN1A):c.3154G>T (p.Asp1052Tyr) |
single nucleotide variant |
Early infantile epileptic encephalopathy with suppression bursts [RCV001313579] |
Chr2:166036323 [GRCh38]
Chr2:166892833 [GRCh37]
Chr2:2q24.3 |
uncertain significance |
| NM_001165963.4(SCN1A):c.4152G>A (p.Arg1384=) |
single nucleotide variant |
not provided [RCV001311214] |
Chr2:166002604 [GRCh38]
Chr2:166859114 [GRCh37]
Chr2:2q24.3 |
likely benign |
| NM_001165963.4(SCN1A):c.919G>T (p.Glu307Ter) |
single nucleotide variant |
not provided [RCV001311222] |
Chr2:166051764 [GRCh38]
Chr2:166908274 [GRCh37]
Chr2:2q24.3 |
pathogenic |
| NM_001165963.4(SCN1A):c.5822C>A (p.Thr1941Lys) |
single nucleotide variant |
Early infantile epileptic encephalopathy with suppression bursts [RCV001360628]|Migraine, familial hemiplegic, 3 [RCV001535564] |
Chr2:165991453 [GRCh38]
Chr2:166847963 [GRCh37]
Chr2:2q24.3 |
uncertain significance|not provided |
| NM_001165963.4(SCN1A):c.2379G>A (p.Thr793=) |
single nucleotide variant |
Early infantile epileptic encephalopathy with suppression bursts [RCV001360636] |
Chr2:166041267 [GRCh38]
Chr2:166897777 [GRCh37]
Chr2:2q24.3 |
likely benign|uncertain significance |
| NM_001165963.4(SCN1A):c.5561T>C (p.Leu1854Ser) |
single nucleotide variant |
Early infantile epileptic encephalopathy with suppression bursts [RCV001371718] |
Chr2:165991714 [GRCh38]
Chr2:166848224 [GRCh37]
Chr2:2q24.3 |
uncertain significance |
| NM_001165963.4(SCN1A):c.1719C>G (p.Ser573Arg) |
single nucleotide variant |
Early infantile epileptic encephalopathy with suppression bursts [RCV002568147]|Generalized epilepsy with febrile seizures plus, type 2 [RCV001527709] |
Chr2:166043993 [GRCh38]
Chr2:166900503 [GRCh37]
Chr2:2q24.3 |
uncertain significance |
| NM_001165963.4(SCN1A):c.5120T>C (p.Phe1707Ser) |
single nucleotide variant |
Generalized epilepsy with febrile seizures plus, type 2 [RCV001376169] |
Chr2:165992155 [GRCh38]
Chr2:166848665 [GRCh37]
Chr2:2q24.3 |
pathogenic |
| NM_001165963.4(SCN1A):c.3451T>C (p.Ser1151Pro) |
single nucleotide variant |
Severe myoclonic epilepsy in infancy [RCV001333848] |
Chr2:166015706 [GRCh38]
Chr2:166872216 [GRCh37]
Chr2:2q24.3 |
uncertain significance |
| NM_001165963.4(SCN1A):c.238C>G (p.Leu80Val) |
single nucleotide variant |
Early infantile epileptic encephalopathy with suppression bursts [RCV001362796] |
Chr2:166073384 [GRCh38]
Chr2:166929894 [GRCh37]
Chr2:2q24.3 |
uncertain significance |
| NM_001165963.4(SCN1A):c.6019A>G (p.Lys2007Glu) |
single nucleotide variant |
Early infantile epileptic encephalopathy with suppression bursts [RCV003771766]|not provided [RCV001581598] |
Chr2:165991256 [GRCh38]
Chr2:166847766 [GRCh37]
Chr2:2q24.3 |
uncertain significance |
| NM_001165963.4(SCN1A):c.4339-12C>A |
single nucleotide variant |
Autosomal dominant epilepsy [RCV003331125]|Early infantile epileptic encephalopathy with suppression bursts [RCV001344645] |
Chr2:165998187 [GRCh38]
Chr2:166854697 [GRCh37]
Chr2:2q24.3 |
likely pathogenic|uncertain significance |
| NM_001165963.4(SCN1A):c.5074T>G (p.Phe1692Val) |
single nucleotide variant |
Early infantile epileptic encephalopathy with suppression bursts [RCV001346386] |
Chr2:165992201 [GRCh38]
Chr2:166848711 [GRCh37]
Chr2:2q24.3 |
uncertain significance |
| NM_001165963.4(SCN1A):c.3565T>C (p.Phe1189Leu) |
single nucleotide variant |
Early infantile epileptic encephalopathy with suppression bursts [RCV001364094] |
Chr2:166013884 [GRCh38]
Chr2:166870394 [GRCh37]
Chr2:2q24.3 |
uncertain significance |
| NM_001165963.4(SCN1A):c.1679G>A (p.Arg560His) |
single nucleotide variant |
Early infantile epileptic encephalopathy with suppression bursts [RCV001319970]|not provided [RCV001760401] |
Chr2:166044033 [GRCh38]
Chr2:166900543 [GRCh37]
Chr2:2q24.3 |
uncertain significance |
| NM_001165963.4(SCN1A):c.2284A>G (p.Asn762Asp) |
single nucleotide variant |
Early infantile epileptic encephalopathy with suppression bursts [RCV001369101] |
Chr2:166041362 [GRCh38]
Chr2:166897872 [GRCh37]
Chr2:2q24.3 |
uncertain significance |
| NM_001165963.4(SCN1A):c.434T>G (p.Met145Arg) |
single nucleotide variant |
Severe myoclonic epilepsy in infancy [RCV001375629] |
Chr2:166056450 [GRCh38]
Chr2:166912960 [GRCh37]
Chr2:2q24.3 |
likely pathogenic |
| NM_001165963.4(SCN1A):c.2191A>G (p.Arg731Gly) |
single nucleotide variant |
Early infantile epileptic encephalopathy with suppression bursts [RCV001364167] |
Chr2:166041455 [GRCh38]
Chr2:166897965 [GRCh37]
Chr2:2q24.3 |
uncertain significance |
| NM_001165963.4(SCN1A):c.1771G>A (p.Ala591Thr) |
single nucleotide variant |
Early infantile epileptic encephalopathy with suppression bursts [RCV001297866] |
Chr2:166043941 [GRCh38]
Chr2:166900451 [GRCh37]
Chr2:2q24.3 |
uncertain significance |
| NM_001165963.4(SCN1A):c.3631T>C (p.Cys1211Arg) |
single nucleotide variant |
Early infantile epileptic encephalopathy with suppression bursts [RCV001320032] |
Chr2:166013818 [GRCh38]
Chr2:166870328 [GRCh37]
Chr2:2q24.3 |
uncertain significance |
| NM_001165963.4(SCN1A):c.2247C>G (p.Asp749Glu) |
single nucleotide variant |
Early infantile epileptic encephalopathy with suppression bursts [RCV001344764] |
Chr2:166041399 [GRCh38]
Chr2:166897909 [GRCh37]
Chr2:2q24.3 |
uncertain significance |
| NM_001165963.4(SCN1A):c.3719T>C (p.Ile1240Thr) |
single nucleotide variant |
Early infantile epileptic encephalopathy with suppression bursts [RCV001345813]|Inborn genetic diseases [RCV002350635]|not provided [RCV001788464] |
Chr2:166012269 [GRCh38]
Chr2:166868779 [GRCh37]
Chr2:2q24.3 |
uncertain significance |
| NC_000002.11:g.(?_165946660)_(167168266_?)del |
deletion |
Early infantile epileptic encephalopathy with suppression bursts [RCV001390921]|Jeune thoracic dystrophy [RCV001871956]|Neuropathy, hereditary sensory and autonomic, type 2A [RCV001387893]|Seizures, benign familial infantile, 3 [RCV001381177]|not provided [RCV001362895] |
Chr2:165946660..167168266 [GRCh37]
Chr2:2q24.3 |
pathogenic|uncertain significance|no classifications from unflagged records |
| NM_001165963.4(SCN1A):c.4499T>C (p.Met1500Thr) |
single nucleotide variant |
Early infantile epileptic encephalopathy with suppression bursts [RCV001364939]|not provided [RCV001762631] |
Chr2:165996095 [GRCh38]
Chr2:166852605 [GRCh37]
Chr2:2q24.3 |
uncertain significance |
| NM_001165963.4(SCN1A):c.5215C>T (p.Pro1739Ser) |
single nucleotide variant |
Early infantile epileptic encephalopathy with suppression bursts [RCV003588738]|Generalized epilepsy with febrile seizures plus, type 2 [RCV001293644] |
Chr2:165992060 [GRCh38]
Chr2:166848570 [GRCh37]
Chr2:2q24.3 |
likely pathogenic|uncertain significance |
| NM_001165963.4(SCN1A):c.4676T>G (p.Met1559Arg) |
single nucleotide variant |
Early infantile epileptic encephalopathy with suppression bursts [RCV001327294] |
Chr2:165994322 [GRCh38]
Chr2:166850832 [GRCh37]
Chr2:2q24.3 |
pathogenic|uncertain significance |
| NM_001165963.4(SCN1A):c.2177-1G>C |
single nucleotide variant |
Early infantile epileptic encephalopathy with suppression bursts [RCV003588735]|not provided [RCV001288393] |
Chr2:166041470 [GRCh38]
Chr2:166897980 [GRCh37]
Chr2:2q24.3 |
pathogenic |
| NM_001165963.4(SCN1A):c.3854G>A (p.Cys1285Tyr) |
single nucleotide variant |
Early infantile epileptic encephalopathy with suppression bursts [RCV001315714] |
Chr2:166012134 [GRCh38]
Chr2:166868644 [GRCh37]
Chr2:2q24.3 |
uncertain significance |
| NM_001165963.4(SCN1A):c.3392A>G (p.Asp1131Gly) |
single nucleotide variant |
Early infantile epileptic encephalopathy with suppression bursts [RCV001308716] |
Chr2:166036085 [GRCh38]
Chr2:166892595 [GRCh37]
Chr2:2q24.3 |
uncertain significance |
| NM_001165963.4(SCN1A):c.1404A>C (p.Glu468Asp) |
single nucleotide variant |
Early infantile epileptic encephalopathy with suppression bursts [RCV001323007] |
Chr2:166045301 [GRCh38]
Chr2:166901811 [GRCh37]
Chr2:2q24.3 |
uncertain significance |
| NM_001165963.4(SCN1A):c.2170G>A (p.Val724Ile) |
single nucleotide variant |
Early infantile epileptic encephalopathy with suppression bursts [RCV001323042] |
Chr2:166042298 [GRCh38]
Chr2:166898808 [GRCh37]
Chr2:2q24.3 |
uncertain significance |
| NM_001165963.4(SCN1A):c.1436T>C (p.Leu479Pro) |
single nucleotide variant |
Early infantile epileptic encephalopathy with suppression bursts [RCV001371702]|Severe myoclonic epilepsy in infancy [RCV003448401] |
Chr2:166045269 [GRCh38]
Chr2:166901779 [GRCh37]
Chr2:2q24.3 |
uncertain significance |
| NM_001165963.4(SCN1A):c.4339-21C>G |
single nucleotide variant |
Severe myoclonic epilepsy in infancy [RCV001280804] |
Chr2:165998196 [GRCh38]
Chr2:166854706 [GRCh37]
Chr2:2q24.3 |
uncertain significance |
| NM_001165963.4(SCN1A):c.1091G>C (p.Ser364Thr) |
single nucleotide variant |
Early infantile epileptic encephalopathy with suppression bursts [RCV001321927] |
Chr2:166047706 [GRCh38]
Chr2:166904216 [GRCh37]
Chr2:2q24.3 |
uncertain significance |
| NM_001165963.4(SCN1A):c.2245G>T (p.Asp749Tyr) |
single nucleotide variant |
Early infantile epileptic encephalopathy with suppression bursts [RCV001346907] |
Chr2:166041401 [GRCh38]
Chr2:166897911 [GRCh37]
Chr2:2q24.3 |
uncertain significance |
| NM_001165963.4(SCN1A):c.3077T>G (p.Val1026Gly) |
single nucleotide variant |
Early infantile epileptic encephalopathy with suppression bursts [RCV001346030] |
Chr2:166036400 [GRCh38]
Chr2:166892910 [GRCh37]
Chr2:2q24.3 |
uncertain significance |
| NM_001165963.4(SCN1A):c.1662+1G>C |
single nucleotide variant |
Early infantile epileptic encephalopathy with suppression bursts [RCV003753174]|Severe myoclonic epilepsy in infancy [RCV001328665] |
Chr2:166045042 [GRCh38]
Chr2:166901552 [GRCh37]
Chr2:2q24.3 |
pathogenic |
| NM_001165963.4(SCN1A):c.264A>C (p.Lys88Asn) |
single nucleotide variant |
Early infantile epileptic encephalopathy with suppression bursts [RCV001296296]|not provided [RCV001556767] |
Chr2:166073358 [GRCh38]
Chr2:166929868 [GRCh37]
Chr2:2q24.3 |
likely pathogenic|uncertain significance |
| NM_001165963.4(SCN1A):c.4739T>G (p.Phe1580Cys) |
single nucleotide variant |
Early infantile epileptic encephalopathy with suppression bursts [RCV001338943] |
Chr2:165994259 [GRCh38]
Chr2:166850769 [GRCh37]
Chr2:2q24.3 |
uncertain significance |
| NM_001165963.4(SCN1A):c.5308A>T (p.Ile1770Phe) |
single nucleotide variant |
Severe myoclonic epilepsy in infancy [RCV001375625] |
Chr2:165991967 [GRCh38]
Chr2:166848477 [GRCh37]
Chr2:2q24.3 |
likely pathogenic |
| NM_001165963.4(SCN1A):c.3677T>G (p.Phe1226Cys) |
single nucleotide variant |
Early infantile epileptic encephalopathy with suppression bursts [RCV001307881] |
Chr2:166013772 [GRCh38]
Chr2:166870282 [GRCh37]
Chr2:2q24.3 |
uncertain significance |
| NM_001165963.4(SCN1A):c.2372C>T (p.Pro791Leu) |
single nucleotide variant |
Early infantile epileptic encephalopathy with suppression bursts [RCV001302167] |
Chr2:166041274 [GRCh38]
Chr2:166897784 [GRCh37]
Chr2:2q24.3 |
uncertain significance |
| NM_001165963.4(SCN1A):c.3158A>T (p.Asp1053Val) |
single nucleotide variant |
Early infantile epileptic encephalopathy with suppression bursts [RCV001369861]|Seizure [RCV002276245] |
Chr2:166036319 [GRCh38]
Chr2:166892829 [GRCh37]
Chr2:2q24.3 |
uncertain significance |
| NM_001165963.4(SCN1A):c.5224G>T (p.Asp1742Tyr) |
single nucleotide variant |
Early infantile epileptic encephalopathy with suppression bursts [RCV001342827] |
Chr2:165992051 [GRCh38]
Chr2:166848561 [GRCh37]
Chr2:2q24.3 |
likely pathogenic|uncertain significance |
| NM_001165963.4(SCN1A):c.5539C>G (p.Leu1847Val) |
single nucleotide variant |
Early infantile epileptic encephalopathy with suppression bursts [RCV001322312]|Inborn genetic diseases [RCV002350593] |
Chr2:165991736 [GRCh38]
Chr2:166848246 [GRCh37]
Chr2:2q24.3 |
uncertain significance |
| NM_001165963.4(SCN1A):c.965-5A>G |
single nucleotide variant |
Early infantile epileptic encephalopathy with suppression bursts [RCV001323407] |
Chr2:166048954 [GRCh38]
Chr2:166905464 [GRCh37]
Chr2:2q24.3 |
pathogenic|uncertain significance |
| NM_001165963.4(SCN1A):c.965-3C>A |
single nucleotide variant |
Early infantile epileptic encephalopathy with suppression bursts [RCV001347532] |
Chr2:166048952 [GRCh38]
Chr2:166905462 [GRCh37]
Chr2:2q24.3 |
uncertain significance |
| NM_001165963.4(SCN1A):c.71C>G (p.Ala24Gly) |
single nucleotide variant |
Early infantile epileptic encephalopathy with suppression bursts [RCV001369923] |
Chr2:166073551 [GRCh38]
Chr2:166930061 [GRCh37]
Chr2:2q24.3 |
uncertain significance |
| NM_001165963.4(SCN1A):c.1274C>T (p.Ala425Val) |
single nucleotide variant |
Early infantile epileptic encephalopathy with suppression bursts [RCV001305984] |
Chr2:166046873 [GRCh38]
Chr2:166903383 [GRCh37]
Chr2:2q24.3 |
uncertain significance |
| NM_001165963.4(SCN1A):c.2716G>C (p.Val906Leu) |
single nucleotide variant |
Early infantile epileptic encephalopathy with suppression bursts [RCV001327894] |
Chr2:166038006 [GRCh38]
Chr2:166894516 [GRCh37]
Chr2:2q24.3 |
uncertain significance |
| NM_001165963.4(SCN1A):c.1117T>G (p.Leu373Val) |
single nucleotide variant |
Early infantile epileptic encephalopathy with suppression bursts [RCV001344308] |
Chr2:166047680 [GRCh38]
Chr2:166904190 [GRCh37]
Chr2:2q24.3 |
uncertain significance |
| NM_001165963.4(SCN1A):c.2385T>G (p.His795Gln) |
single nucleotide variant |
Early infantile epileptic encephalopathy with suppression bursts [RCV001322434] |
Chr2:166041261 [GRCh38]
Chr2:166897771 [GRCh37]
Chr2:2q24.3 |
uncertain significance |
| NM_001165963.4(SCN1A):c.4843T>A (p.Ser1615Thr) |
single nucleotide variant |
Early infantile epileptic encephalopathy with suppression bursts [RCV001361965] |
Chr2:165994155 [GRCh38]
Chr2:166850665 [GRCh37]
Chr2:2q24.3 |
uncertain significance |
| NM_001165963.4(SCN1A):c.3185T>A (p.Met1062Lys) |
single nucleotide variant |
Early infantile epileptic encephalopathy with suppression bursts [RCV001363513] |
Chr2:166036292 [GRCh38]
Chr2:166892802 [GRCh37]
Chr2:2q24.3 |
uncertain significance |
| NM_001165963.4(SCN1A):c.3506T>A (p.Val1169Glu) |
single nucleotide variant |
Early infantile epileptic encephalopathy with suppression bursts [RCV001319398] |
Chr2:166015651 [GRCh38]
Chr2:166872161 [GRCh37]
Chr2:2q24.3 |
uncertain significance |
| NM_001165963.4(SCN1A):c.2858T>C (p.Ile953Thr) |
single nucleotide variant |
Early infantile epileptic encephalopathy with suppression bursts [RCV001300876] |
Chr2:166037864 [GRCh38]
Chr2:166894374 [GRCh37]
Chr2:2q24.3 |
uncertain significance |
| NM_001165963.4(SCN1A):c.1201A>G (p.Ile401Val) |
single nucleotide variant |
Early infantile epileptic encephalopathy with suppression bursts [RCV001344374]|not provided [RCV003327508]|not specified [RCV001815035] |
Chr2:166046946 [GRCh38]
Chr2:166903456 [GRCh37]
Chr2:2q24.3 |
uncertain significance |
| NM_001165963.4(SCN1A):c.3845A>G (p.Asn1282Ser) |
single nucleotide variant |
Early infantile epileptic encephalopathy with suppression bursts [RCV001345403] |
Chr2:166012143 [GRCh38]
Chr2:166868653 [GRCh37]
Chr2:2q24.3 |
uncertain significance |
| NM_001165963.4(SCN1A):c.2140A>G (p.Met714Val) |
single nucleotide variant |
Early infantile epileptic encephalopathy with suppression bursts [RCV001341527] |
Chr2:166042328 [GRCh38]
Chr2:166898838 [GRCh37]
Chr2:2q24.3 |
uncertain significance |
| NM_001165963.4(SCN1A):c.2294T>C (p.Val765Ala) |
single nucleotide variant |
Early infantile epileptic encephalopathy with suppression bursts [RCV001364270]|not provided [RCV001762629] |
Chr2:166041352 [GRCh38]
Chr2:166897862 [GRCh37]
Chr2:2q24.3 |
uncertain significance |
| NM_001165963.4(SCN1A):c.1149C>A (p.Phe383Leu) |
single nucleotide variant |
Early infantile epileptic encephalopathy with suppression bursts [RCV001370765] |
Chr2:166047648 [GRCh38]
Chr2:166904158 [GRCh37]
Chr2:2q24.3 |
likely pathogenic|uncertain significance |
| NM_001165963.4(SCN1A):c.4712C>A (p.Thr1571Asn) |
single nucleotide variant |
Early infantile epileptic encephalopathy with suppression bursts [RCV001345541] |
Chr2:165994286 [GRCh38]
Chr2:166850796 [GRCh37]
Chr2:2q24.3 |
uncertain significance |
| NM_001165963.4(SCN1A):c.1037C>T (p.Pro346Leu) |
single nucleotide variant |
Severe myoclonic epilepsy in infancy [RCV001374630] |
Chr2:166047760 [GRCh38]
Chr2:166904270 [GRCh37]
Chr2:2q24.3 |
likely pathogenic |
| NM_001165963.4(SCN1A):c.447C>A (p.Asn149Lys) |
single nucleotide variant |
Early infantile epileptic encephalopathy with suppression bursts [RCV001364330] |
Chr2:166056437 [GRCh38]
Chr2:166912947 [GRCh37]
Chr2:2q24.3 |
uncertain significance |
| NM_001165963.4(SCN1A):c.5020G>A (p.Gly1674Ser) |
single nucleotide variant |
Early infantile epileptic encephalopathy with suppression bursts [RCV001325213]|not provided [RCV003229889] |
Chr2:165992255 [GRCh38]
Chr2:166848765 [GRCh37]
Chr2:2q24.3 |
pathogenic|likely pathogenic|uncertain significance |
| NM_001165963.4(SCN1A):c.3953T>C (p.Leu1318Pro) |
single nucleotide variant |
Severe myoclonic epilepsy in infancy [RCV001328667] |
Chr2:166009768 [GRCh38]
Chr2:166866278 [GRCh37]
Chr2:2q24.3 |
uncertain significance |
| NM_001165963.4(SCN1A):c.4010T>C (p.Val1337Ala) |
single nucleotide variant |
Early infantile epileptic encephalopathy with suppression bursts [RCV001317966] |
Chr2:166002746 [GRCh38]
Chr2:166859256 [GRCh37]
Chr2:2q24.3 |
uncertain significance |
| NM_001165963.4(SCN1A):c.1378-10T>C |
single nucleotide variant |
Early infantile epileptic encephalopathy with suppression bursts [RCV001413728] |
Chr2:166045337 [GRCh38]
Chr2:166901847 [GRCh37]
Chr2:2q24.3 |
likely benign |
| NM_001165963.4(SCN1A):c.1170+4A>G |
single nucleotide variant |
not provided [RCV001288391] |
Chr2:166047623 [GRCh38]
Chr2:166904133 [GRCh37]
Chr2:2q24.3 |
likely pathogenic |
| NM_001165963.4(SCN1A):c.1366G>C (p.Glu456Gln) |
single nucleotide variant |
Early infantile epileptic encephalopathy with suppression bursts [RCV001340320] |
Chr2:166046781 [GRCh38]
Chr2:166903291 [GRCh37]
Chr2:2q24.3 |
uncertain significance |
| NM_001165963.4(SCN1A):c.882G>T (p.Lys294Asn) |
single nucleotide variant |
Early infantile epileptic encephalopathy with suppression bursts [RCV001371158] |
Chr2:166051801 [GRCh38]
Chr2:166908311 [GRCh37]
Chr2:2q24.3 |
uncertain significance |
| NM_001165963.4(SCN1A):c.5324T>C (p.Leu1775Pro) |
single nucleotide variant |
Early infantile epileptic encephalopathy with suppression bursts [RCV001366597] |
Chr2:165991951 [GRCh38]
Chr2:166848461 [GRCh37]
Chr2:2q24.3 |
likely pathogenic|uncertain significance |
| NM_001165963.4(SCN1A):c.866A>T (p.Glu289Val) |
single nucleotide variant |
Early infantile epileptic encephalopathy with suppression bursts [RCV001366598] |
Chr2:166051817 [GRCh38]
Chr2:166908327 [GRCh37]
Chr2:2q24.3 |
pathogenic|uncertain significance |
| NM_001165963.4(SCN1A):c.265-3C>T |
single nucleotide variant |
Early infantile epileptic encephalopathy with suppression bursts [RCV001366599]|not provided [RCV001762635] |
Chr2:166058691 [GRCh38]
Chr2:166915201 [GRCh37]
Chr2:2q24.3 |
uncertain significance |
| NM_001165963.4(SCN1A):c.2289G>A (p.Leu763=) |
single nucleotide variant |
Early infantile epileptic encephalopathy with suppression bursts [RCV001337823] |
Chr2:166041357 [GRCh38]
Chr2:166897867 [GRCh37]
Chr2:2q24.3 |
uncertain significance |
| NM_001165963.4(SCN1A):c.3110C>G (p.Ser1037Cys) |
single nucleotide variant |
Early infantile epileptic encephalopathy with suppression bursts [RCV001326855]|not provided [RCV003234044] |
Chr2:166036367 [GRCh38]
Chr2:166892877 [GRCh37]
Chr2:2q24.3 |
uncertain significance |
| NM_001165963.4(SCN1A):c.1807_1808del (p.Ser603fs) |
microsatellite |
Seizure [RCV001374452] |
Chr2:166043904..166043905 [GRCh38]
Chr2:166900414..166900415 [GRCh37]
Chr2:2q24.3 |
pathogenic |
| NM_001165963.4(SCN1A):c.5797C>T (p.Arg1933Ter) |
single nucleotide variant |
Early infantile epileptic encephalopathy with suppression bursts [RCV001300333] |
Chr2:165991478 [GRCh38]
Chr2:166847988 [GRCh37]
Chr2:2q24.3 |
uncertain significance |
| NM_001165963.4(SCN1A):c.4726A>G (p.Ile1576Val) |
single nucleotide variant |
Early infantile epileptic encephalopathy with suppression bursts [RCV001326937]|not provided [RCV001773653] |
Chr2:165994272 [GRCh38]
Chr2:166850782 [GRCh37]
Chr2:2q24.3 |
uncertain significance |
| NM_001165963.4(SCN1A):c.1118T>C (p.Leu373Ser) |
single nucleotide variant |
Early infantile epileptic encephalopathy with suppression bursts [RCV003753177]|Severe myoclonic epilepsy in infancy [RCV001375626] |
Chr2:166047679 [GRCh38]
Chr2:166904189 [GRCh37]
Chr2:2q24.3 |
pathogenic|likely pathogenic |
| NM_001165963.4(SCN1A):c.4091T>C (p.Met1364Thr) |
single nucleotide variant |
Early infantile epileptic encephalopathy with suppression bursts [RCV001327518] |
Chr2:166002665 [GRCh38]
Chr2:166859175 [GRCh37]
Chr2:2q24.3 |
uncertain significance |
| NM_001165963.4(SCN1A):c.4843T>C (p.Ser1615Pro) |
single nucleotide variant |
Early infantile epileptic encephalopathy with suppression bursts [RCV001371666] |
Chr2:165994155 [GRCh38]
Chr2:166850665 [GRCh37]
Chr2:2q24.3 |
uncertain significance |
| NM_001165963.4(SCN1A):c.2269G>A (p.Val757Met) |
single nucleotide variant |
Early infantile epileptic encephalopathy with suppression bursts [RCV001325811] |
Chr2:166041377 [GRCh38]
Chr2:166897887 [GRCh37]
Chr2:2q24.3 |
uncertain significance |
| NM_001165963.4(SCN1A):c.1969C>A (p.Pro657Thr) |
single nucleotide variant |
Early infantile epileptic encephalopathy with suppression bursts [RCV001371859] |
Chr2:166043743 [GRCh38]
Chr2:166900253 [GRCh37]
Chr2:2q24.3 |
likely benign|uncertain significance |
| NM_001165963.4(SCN1A):c.1171A>T (p.Thr391Ser) |
single nucleotide variant |
Early infantile epileptic encephalopathy with suppression bursts [RCV001312320] |
Chr2:166046976 [GRCh38]
Chr2:166903486 [GRCh37]
Chr2:2q24.3 |
uncertain significance |
| NM_001165963.4(SCN1A):c.5169T>G (p.Ser1723=) |
single nucleotide variant |
Early infantile epileptic encephalopathy with suppression bursts [RCV001395122] |
Chr2:165992106 [GRCh38]
Chr2:166848616 [GRCh37]
Chr2:2q24.3 |
likely benign |
| NM_001165963.4(SCN1A):c.4342G>C (p.Glu1448Gln) |
single nucleotide variant |
Early infantile epileptic encephalopathy with suppression bursts [RCV002567972]|not provided [RCV001507577] |
Chr2:165998172 [GRCh38]
Chr2:166854682 [GRCh37]
Chr2:2q24.3 |
uncertain significance |
| NM_001165963.4(SCN1A):c.5741_5742del (p.Gln1914fs) |
deletion |
not provided [RCV001311210] |
Chr2:165991533..165991534 [GRCh38]
Chr2:166848043..166848044 [GRCh37]
Chr2:2q24.3 |
pathogenic |
| NM_001165963.4(SCN1A):c.4348C>T (p.Gln1450Ter) |
single nucleotide variant |
not provided [RCV001311213] |
Chr2:165998166 [GRCh38]
Chr2:166854676 [GRCh37]
Chr2:2q24.3 |
pathogenic |
| NM_001165963.4(SCN1A):c.5442G>A (p.Lys1814=) |
single nucleotide variant |
Early infantile epileptic encephalopathy with suppression bursts [RCV001421908] |
Chr2:165991833 [GRCh38]
Chr2:166848343 [GRCh37]
Chr2:2q24.3 |
likely benign |
| NM_001165963.4(SCN1A):c.126_128delinsCC (p.Lys42fs) |
indel |
Developmental and epileptic encephalopathy, 1 [RCV001527643] |
Chr2:166073494..166073496 [GRCh38]
Chr2:166930004..166930006 [GRCh37]
Chr2:2q24.3 |
pathogenic |
| NM_001165963.4(SCN1A):c.109C>A (p.Pro37Thr) |
single nucleotide variant |
Early infantile epileptic encephalopathy with suppression bursts [RCV001395256] |
Chr2:166073513 [GRCh38]
Chr2:166930023 [GRCh37]
Chr2:2q24.3 |
likely benign |
| NM_001165963.4(SCN1A):c.2443_2445del (p.Met815del) |
deletion |
Early infantile epileptic encephalopathy with suppression bursts [RCV001299015] |
Chr2:166039567..166039569 [GRCh38]
Chr2:166896077..166896079 [GRCh37]
Chr2:2q24.3 |
uncertain significance |
| NM_001165963.4(SCN1A):c.1199T>C (p.Met400Thr) |
single nucleotide variant |
Early infantile epileptic encephalopathy with suppression bursts [RCV001365856] |
Chr2:166046948 [GRCh38]
Chr2:166903458 [GRCh37]
Chr2:2q24.3 |
likely pathogenic|uncertain significance |
| NM_001165963.4(SCN1A):c.3705G>A (p.Leu1235=) |
single nucleotide variant |
Early infantile epileptic encephalopathy with suppression bursts [RCV001350715] |
Chr2:166013744 [GRCh38]
Chr2:166870254 [GRCh37]
Chr2:2q24.3 |
uncertain significance |
| NM_001165963.4(SCN1A):c.97A>G (p.Lys33Glu) |
single nucleotide variant |
Early infantile epileptic encephalopathy with suppression bursts [RCV001339838] |
Chr2:166073525 [GRCh38]
Chr2:166930035 [GRCh37]
Chr2:2q24.3 |
uncertain significance |
| NM_001165963.4(SCN1A):c.1169T>C (p.Leu390Pro) |
single nucleotide variant |
Early infantile epileptic encephalopathy with suppression bursts [RCV001365999] |
Chr2:166047628 [GRCh38]
Chr2:166904138 [GRCh37]
Chr2:2q24.3 |
likely pathogenic|uncertain significance |
| NM_001165963.4(SCN1A):c.5080T>G (p.Tyr1694Asp) |
single nucleotide variant |
Early infantile epileptic encephalopathy with suppression bursts [RCV001366069] |
Chr2:165992195 [GRCh38]
Chr2:166848705 [GRCh37]
Chr2:2q24.3 |
likely pathogenic|uncertain significance |
| NM_001165963.4(SCN1A):c.3066A>G (p.Gly1022=) |
single nucleotide variant |
Early infantile epileptic encephalopathy with suppression bursts [RCV001486533] |
Chr2:166036411 [GRCh38]
Chr2:166892921 [GRCh37]
Chr2:2q24.3 |
likely benign |
| NM_001165963.4(SCN1A):c.456T>C (p.Asp152=) |
single nucleotide variant |
Early infantile epileptic encephalopathy with suppression bursts [RCV001486554] |
Chr2:166056428 [GRCh38]
Chr2:166912938 [GRCh37]
Chr2:2q24.3 |
likely benign |
| NM_001165963.4(SCN1A):c.2835C>T (p.Phe945=) |
single nucleotide variant |
Early infantile epileptic encephalopathy with suppression bursts [RCV001486575] |
Chr2:166037887 [GRCh38]
Chr2:166894397 [GRCh37]
Chr2:2q24.3 |
likely benign |
| NM_001165963.4(SCN1A):c.5488C>T (p.Gln1830Ter) |
single nucleotide variant |
Severe myoclonic epilepsy in infancy [RCV001535823] |
Chr2:165991787 [GRCh38]
Chr2:166848297 [GRCh37]
Chr2:2q24.3 |
pathogenic |
| NM_001165963.4(SCN1A):c.5070C>T (p.Ser1690=) |
single nucleotide variant |
Early infantile epileptic encephalopathy with suppression bursts [RCV001393931]|Inborn genetic diseases [RCV002341841] |
Chr2:165992205 [GRCh38]
Chr2:166848715 [GRCh37]
Chr2:2q24.3 |
likely benign |
| NM_001165963.4(SCN1A):c.3067_3071del (p.Val1023fs) |
deletion |
not provided [RCV001508453] |
Chr2:166036406..166036410 [GRCh38]
Chr2:166892916..166892920 [GRCh37]
Chr2:2q24.3 |
pathogenic |
| NM_001165963.4(SCN1A):c.717C>G (p.Ala239=) |
single nucleotide variant |
Early infantile epileptic encephalopathy with suppression bursts [RCV001495315] |
Chr2:166051966 [GRCh38]
Chr2:166908476 [GRCh37]
Chr2:2q24.3 |
likely benign |
| NM_001165963.4(SCN1A):c.3070_3074del (p.Ala1024fs) |
deletion |
not provided [RCV001508452] |
Chr2:166036403..166036407 [GRCh38]
Chr2:166892913..166892917 [GRCh37]
Chr2:2q24.3 |
pathogenic |
| NM_001165963.4(SCN1A):c.243C>A (p.Asp81Glu) |
single nucleotide variant |
Early infantile epileptic encephalopathy with suppression bursts [RCV001380255] |
Chr2:166073379 [GRCh38]
Chr2:166929889 [GRCh37]
Chr2:2q24.3 |
pathogenic |
| NM_001165963.4(SCN1A):c.1525C>T (p.Gln509Ter) |
single nucleotide variant |
Early infantile epileptic encephalopathy with suppression bursts [RCV001389472] |
Chr2:166045180 [GRCh38]
Chr2:166901690 [GRCh37]
Chr2:2q24.3 |
pathogenic |
| NM_001165963.4(SCN1A):c.812G>T (p.Gly271Val) |
single nucleotide variant |
Early infantile epileptic encephalopathy with suppression bursts [RCV001384530]|Severe myoclonic epilepsy in infancy [RCV002283547] |
Chr2:166051871 [GRCh38]
Chr2:166908381 [GRCh37]
Chr2:2q24.3 |
pathogenic|likely pathogenic |
| NM_001165963.4(SCN1A):c.1423_1424delinsCT (p.Ala475Leu) |
indel |
Generalized epilepsy with febrile seizures plus, type 2 [RCV001528182]|Severe myoclonic epilepsy in infancy [RCV001509555]|not provided [RCV003136093] |
Chr2:166045281..166045282 [GRCh38]
Chr2:166901791..166901792 [GRCh37]
Chr2:2q24.3 |
pathogenic|uncertain significance |
| NM_001165963.4(SCN1A):c.1627T>C (p.Leu543=) |
single nucleotide variant |
Early infantile epileptic encephalopathy with suppression bursts [RCV001468338] |
Chr2:166045078 [GRCh38]
Chr2:166901588 [GRCh37]
Chr2:2q24.3 |
likely benign |
| NM_001165963.4(SCN1A):c.5769G>C (p.Gln1923His) |
single nucleotide variant |
Early infantile epileptic encephalopathy with suppression bursts [RCV001378012]|Generalized epilepsy with febrile seizures plus, type 2 [RCV002246355] |
Chr2:165991506 [GRCh38]
Chr2:166848016 [GRCh37]
Chr2:2q24.3 |
pathogenic|likely pathogenic |
| NM_001165963.4(SCN1A):c.5527C>T (p.Gln1843Ter) |
single nucleotide variant |
Early infantile epileptic encephalopathy with suppression bursts [RCV001384791] |
Chr2:165991748 [GRCh38]
Chr2:166848258 [GRCh37]
Chr2:2q24.3 |
pathogenic |
| NM_001165963.4(SCN1A):c.4601T>A (p.Val1534Asp) |
single nucleotide variant |
Early infantile epileptic encephalopathy with suppression bursts [RCV001865907]|Severe myoclonic epilepsy in infancy [RCV001420146] |
Chr2:165994397 [GRCh38]
Chr2:166850907 [GRCh37]
Chr2:2q24.3 |
pathogenic|likely pathogenic|uncertain significance |
| NM_001165963.4(SCN1A):c.5064G>T (p.Gly1688=) |
single nucleotide variant |
Early infantile epileptic encephalopathy with suppression bursts [RCV001506164] |
Chr2:165992211 [GRCh38]
Chr2:166848721 [GRCh37]
Chr2:2q24.3 |
likely benign |
| NM_001165963.4(SCN1A):c.473+9A>C |
single nucleotide variant |
Early infantile epileptic encephalopathy with suppression bursts [RCV001506232] |
Chr2:166056402 [GRCh38]
Chr2:166912912 [GRCh37]
Chr2:2q24.3 |
likely benign |
| NM_001165963.4(SCN1A):c.2547C>T (p.Leu849=) |
single nucleotide variant |
Early infantile epileptic encephalopathy with suppression bursts [RCV001470736]|not provided [RCV003883658] |
Chr2:166039465 [GRCh38]
Chr2:166895975 [GRCh37]
Chr2:2q24.3 |
likely benign |
| NC_000002.11:g.(?_166847793)_(166847921_?)dup |
duplication |
Early infantile epileptic encephalopathy with suppression bursts [RCV001476312] |
Chr2:166847793..166847921 [GRCh37]
Chr2:2q24.3 |
likely benign |
| NM_001165963.4(SCN1A):c.2278G>C (p.Val760Leu) |
single nucleotide variant |
Early infantile epileptic encephalopathy with suppression bursts [RCV001486068] |
Chr2:166041368 [GRCh38]
Chr2:166897878 [GRCh37]
Chr2:2q24.3 |
likely benign |
| NM_001165963.4(SCN1A):c.69G>A (p.Ala23=) |
single nucleotide variant |
Early infantile epileptic encephalopathy with suppression bursts [RCV001510470] |
Chr2:166073553 [GRCh38]
Chr2:166930063 [GRCh37]
Chr2:2q24.3 |
benign |
| NM_001165963.4(SCN1A):c.4477-4A>G |
single nucleotide variant |
Early infantile epileptic encephalopathy with suppression bursts [RCV001468960] |
Chr2:165996121 [GRCh38]
Chr2:166852631 [GRCh37]
Chr2:2q24.3 |
likely benign |
| NM_001165963.4(SCN1A):c.4050G>A (p.Val1350=) |
single nucleotide variant |
Early infantile epileptic encephalopathy with suppression bursts [RCV001499501]|not provided [RCV003438838] |
Chr2:166002706 [GRCh38]
Chr2:166859216 [GRCh37]
Chr2:2q24.3 |
likely benign |
| NM_001165963.4(SCN1A):c.265-6_265-5insTG |
insertion |
Early infantile epileptic encephalopathy with suppression bursts [RCV001491567] |
Chr2:166058693..166058694 [GRCh38]
Chr2:166915203..166915204 [GRCh37]
Chr2:2q24.3 |
likely benign |
| NM_001165963.4(SCN1A):c.1173A>G (p.Thr391=) |
single nucleotide variant |
Early infantile epileptic encephalopathy with suppression bursts [RCV001500954] |
Chr2:166046974 [GRCh38]
Chr2:166903484 [GRCh37]
Chr2:2q24.3 |
likely benign |
| NM_001165963.4(SCN1A):c.3395_3396del (p.Asp1131_Phe1132insTer) |
deletion |
Early infantile epileptic encephalopathy with suppression bursts [RCV001381437] |
Chr2:166036081..166036082 [GRCh38]
Chr2:166892591..166892592 [GRCh37]
Chr2:2q24.3 |
pathogenic |
| NM_001165963.4(SCN1A):c.3996del (p.Gly1332_Met1333insTer) |
deletion |
Early infantile epileptic encephalopathy with suppression bursts [RCV001390713] |
Chr2:166009725 [GRCh38]
Chr2:166866235 [GRCh37]
Chr2:2q24.3 |
pathogenic |
| NM_001165963.4(SCN1A):c.1663-7C>T |
single nucleotide variant |
Early infantile epileptic encephalopathy with suppression bursts [RCV001480529] |
Chr2:166044056 [GRCh38]
Chr2:166900566 [GRCh37]
Chr2:2q24.3 |
likely benign |
| NM_001165963.4(SCN1A):c.1326C>T (p.Ala442=) |
single nucleotide variant |
Early infantile epileptic encephalopathy with suppression bursts [RCV001483373] |
Chr2:166046821 [GRCh38]
Chr2:166903331 [GRCh37]
Chr2:2q24.3 |
likely benign |
| NM_001165963.4(SCN1A):c.3357A>G (p.Val1119=) |
single nucleotide variant |
Early infantile epileptic encephalopathy with suppression bursts [RCV001475797] |
Chr2:166036120 [GRCh38]
Chr2:166892630 [GRCh37]
Chr2:2q24.3 |
likely benign |
| NM_001165963.4(SCN1A):c.2877T>C (p.Cys959=) |
single nucleotide variant |
Early infantile epileptic encephalopathy with suppression bursts [RCV001453289]|SCN1A-related condition [RCV003938813] |
Chr2:166037845 [GRCh38]
Chr2:166894355 [GRCh37]
Chr2:2q24.3 |
likely benign |
| NM_001165963.4(SCN1A):c.1764C>T (p.Asn588=) |
single nucleotide variant |
Early infantile epileptic encephalopathy with suppression bursts [RCV001434460] |
Chr2:166043948 [GRCh38]
Chr2:166900458 [GRCh37]
Chr2:2q24.3 |
likely benign |
| NM_001165963.4(SCN1A):c.5798G>A (p.Arg1933Gln) |
single nucleotide variant |
Early infantile epileptic encephalopathy with suppression bursts [RCV001474649]|not specified [RCV003317501] |
Chr2:165991477 [GRCh38]
Chr2:166847987 [GRCh37]
Chr2:2q24.3 |
likely benign|uncertain significance |
| NM_001165963.4(SCN1A):c.4599G>T (p.Met1533Ile) |
single nucleotide variant |
Early infantile epileptic encephalopathy with suppression bursts [RCV001456707] |
Chr2:165994399 [GRCh38]
Chr2:166850909 [GRCh37]
Chr2:2q24.3 |
likely benign |
| NM_001165963.4(SCN1A):c.4234A>T (p.Lys1412Ter) |
single nucleotide variant |
Early infantile epileptic encephalopathy with suppression bursts [RCV001388663] |
Chr2:166002522 [GRCh38]
Chr2:166859032 [GRCh37]
Chr2:2q24.3 |
pathogenic |
| NM_001165963.4(SCN1A):c.4788C>A (p.Arg1596=) |
single nucleotide variant |
Early infantile epileptic encephalopathy with suppression bursts [RCV001506385] |
Chr2:165994210 [GRCh38]
Chr2:166850720 [GRCh37]
Chr2:2q24.3 |
likely benign |
| NM_001165963.4(SCN1A):c.4335A>G (p.Arg1445=) |
single nucleotide variant |
Early infantile epileptic encephalopathy with suppression bursts [RCV001467358] |
Chr2:165999726 [GRCh38]
Chr2:166856236 [GRCh37]
Chr2:2q24.3 |
likely benign |
| NM_001165963.4(SCN1A):c.4482A>G (p.Gly1494=) |
single nucleotide variant |
Early infantile epileptic encephalopathy with suppression bursts [RCV001470817] |
Chr2:165996112 [GRCh38]
Chr2:166852622 [GRCh37]
Chr2:2q24.3 |
likely benign |
| NM_001165963.4(SCN1A):c.695-2A>G |
single nucleotide variant |
Early infantile epileptic encephalopathy with suppression bursts [RCV001377291] |
Chr2:166051990 [GRCh38]
Chr2:166908500 [GRCh37]
Chr2:2q24.3 |
likely pathogenic |
| NM_001165963.4(SCN1A):c.5202C>T (p.Leu1734=) |
single nucleotide variant |
Early infantile epileptic encephalopathy with suppression bursts [RCV001469202]|not provided [RCV001531932] |
Chr2:165992073 [GRCh38]
Chr2:166848583 [GRCh37]
Chr2:2q24.3 |
likely benign |
| NM_001165963.4(SCN1A):c.2848G>A (p.Gly950Arg) |
single nucleotide variant |
Early infantile epileptic encephalopathy with suppression bursts [RCV001377583] |
Chr2:166037874 [GRCh38]
Chr2:166894384 [GRCh37]
Chr2:2q24.3 |
likely pathogenic |
| NM_001165963.4(SCN1A):c.762T>C (p.Thr254=) |
single nucleotide variant |
Early infantile epileptic encephalopathy with suppression bursts [RCV001419788] |
Chr2:166051921 [GRCh38]
Chr2:166908431 [GRCh37]
Chr2:2q24.3 |
likely benign |
| NM_001165963.4(SCN1A):c.2513_2514del (p.Phe838fs) |
deletion |
Early infantile epileptic encephalopathy with suppression bursts [RCV001381057] |
Chr2:166039498..166039499 [GRCh38]
Chr2:166896008..166896009 [GRCh37]
Chr2:2q24.3 |
pathogenic |
| NM_001165963.4(SCN1A):c.1738C>A (p.Arg580=) |
single nucleotide variant |
Early infantile epileptic encephalopathy with suppression bursts [RCV001402246] |
Chr2:166043974 [GRCh38]
Chr2:166900484 [GRCh37]
Chr2:2q24.3 |
likely benign |
| NM_001165963.4(SCN1A):c.3715_3721dup (p.Tyr1241Ter) |
duplication |
Early infantile epileptic encephalopathy with suppression bursts [RCV001382294] |
Chr2:166012266..166012267 [GRCh38]
Chr2:166868776..166868777 [GRCh37]
Chr2:2q24.3 |
pathogenic |
| NM_001165963.4(SCN1A):c.3635del (p.Phe1212fs) |
deletion |
Early infantile epileptic encephalopathy with suppression bursts [RCV001384660] |
Chr2:166013814 [GRCh38]
Chr2:166870324 [GRCh37]
Chr2:2q24.3 |
pathogenic |
| NM_001165963.4(SCN1A):c.3726T>C (p.Ile1242=) |
single nucleotide variant |
Early infantile epileptic encephalopathy with suppression bursts [RCV001446072]|Inborn genetic diseases [RCV002350894]|not provided [RCV001673061] |
Chr2:166012262 [GRCh38]
Chr2:166868772 [GRCh37]
Chr2:2q24.3 |
benign|likely benign |
| NM_001165963.4(SCN1A):c.1134A>G (p.Leu378=) |
single nucleotide variant |
Early infantile epileptic encephalopathy with suppression bursts [RCV001448656] |
Chr2:166047663 [GRCh38]
Chr2:166904173 [GRCh37]
Chr2:2q24.3 |
likely benign |
| NM_001165963.4(SCN1A):c.1028+35T>C |
single nucleotide variant |
not provided [RCV001540128] |
Chr2:166048851 [GRCh38]
Chr2:166905361 [GRCh37]
Chr2:2q24.3 |
likely benign |
| NM_001165963.4(SCN1A):c.2451G>C (p.Leu817=) |
single nucleotide variant |
Early infantile epileptic encephalopathy with suppression bursts [RCV001394268]|Inborn genetic diseases [RCV002449088] |
Chr2:166039561 [GRCh38]
Chr2:166896071 [GRCh37]
Chr2:2q24.3 |
likely benign |
| NM_001165963.4(SCN1A):c.2496G>A (p.Trp832Ter) |
single nucleotide variant |
Early infantile epileptic encephalopathy with suppression bursts [RCV001380290] |
Chr2:166039516 [GRCh38]
Chr2:166896026 [GRCh37]
Chr2:2q24.3 |
pathogenic |
| NM_001165963.4(SCN1A):c.1881G>A (p.Arg627=) |
single nucleotide variant |
Early infantile epileptic encephalopathy with suppression bursts [RCV001417400] |
Chr2:166043831 [GRCh38]
Chr2:166900341 [GRCh37]
Chr2:2q24.3 |
likely benign |
| NM_001165963.4(SCN1A):c.2510del (p.Gly837fs) |
deletion |
not provided [RCV001531325] |
Chr2:166039502 [GRCh38]
Chr2:166896012 [GRCh37]
Chr2:2q24.3 |
pathogenic |
| NM_001165963.4(SCN1A):c.1439C>A (p.Ser480Ter) |
single nucleotide variant |
Early infantile epileptic encephalopathy with suppression bursts [RCV001384856] |
Chr2:166045266 [GRCh38]
Chr2:166901776 [GRCh37]
Chr2:2q24.3 |
pathogenic |
| NM_001165963.4(SCN1A):c.984_986del (p.Glu328_Gly329delinsAsp) |
deletion |
Early infantile epileptic encephalopathy with suppression bursts [RCV001378497] |
Chr2:166048928..166048930 [GRCh38]
Chr2:166905438..166905440 [GRCh37]
Chr2:2q24.3 |
pathogenic|likely pathogenic |
| NM_001165963.4(SCN1A):c.2044G>A (p.Gly682Arg) |
single nucleotide variant |
Early infantile epileptic encephalopathy with suppression bursts [RCV001859331]|Inborn genetic diseases [RCV002420944]|Severe myoclonic epilepsy in infancy [RCV001420655] |
Chr2:166042424 [GRCh38]
Chr2:166898934 [GRCh37]
Chr2:2q24.3 |
uncertain significance |
| NM_001165963.4(SCN1A):c.3408G>A (p.Ser1136=) |
single nucleotide variant |
Early infantile epileptic encephalopathy with suppression bursts [RCV001400989]|SCN1A-related condition [RCV003908571] |
Chr2:166036069 [GRCh38]
Chr2:166892579 [GRCh37]
Chr2:2q24.3 |
likely benign |
| NM_001165963.4(SCN1A):c.765G>A (p.Val255=) |
single nucleotide variant |
Early infantile epileptic encephalopathy with suppression bursts [RCV001418745]|not provided [RCV001726551] |
Chr2:166051918 [GRCh38]
Chr2:166908428 [GRCh37]
Chr2:2q24.3 |
likely benign |
| NM_001165963.4(SCN1A):c.2044G>T (p.Gly682Ter) |
single nucleotide variant |
Early infantile epileptic encephalopathy with suppression bursts [RCV001387438] |
Chr2:166042424 [GRCh38]
Chr2:166898934 [GRCh37]
Chr2:2q24.3 |
pathogenic |
| NM_001165963.4(SCN1A):c.4119C>T (p.Phe1373=) |
single nucleotide variant |
Early infantile epileptic encephalopathy with suppression bursts [RCV001417203] |
Chr2:166002637 [GRCh38]
Chr2:166859147 [GRCh37]
Chr2:2q24.3 |
likely benign |
| NM_001165963.4(SCN1A):c.2346T>C (p.Thr782=) |
single nucleotide variant |
Early infantile epileptic encephalopathy with suppression bursts [RCV001417225] |
Chr2:166041300 [GRCh38]
Chr2:166897810 [GRCh37]
Chr2:2q24.3 |
likely benign |
| NM_001165963.4(SCN1A):c.2618G>A (p.Trp873Ter) |
single nucleotide variant |
Early infantile epileptic encephalopathy with suppression bursts [RCV001390158]|Severe myoclonic epilepsy in infancy [RCV003326150] |
Chr2:166038104 [GRCh38]
Chr2:166894614 [GRCh37]
Chr2:2q24.3 |
pathogenic |
| NM_001165963.4(SCN1A):c.4581+10A>G |
single nucleotide variant |
Early infantile epileptic encephalopathy with suppression bursts [RCV001407694] |
Chr2:165996003 [GRCh38]
Chr2:166852513 [GRCh37]
Chr2:2q24.3 |
likely benign |
| NM_001165963.4(SCN1A):c.4184_4187dup (p.Cys1396Ter) |
duplication |
Early infantile epileptic encephalopathy with suppression bursts [RCV001390322] |
Chr2:166002568..166002569 [GRCh38]
Chr2:166859078..166859079 [GRCh37]
Chr2:2q24.3 |
pathogenic |
| NM_001165963.4(SCN1A):c.639G>A (p.Ser213=) |
single nucleotide variant |
Early infantile epileptic encephalopathy with suppression bursts [RCV001428672] |
Chr2:166052907 [GRCh38]
Chr2:166909417 [GRCh37]
Chr2:2q24.3 |
likely benign |
| NM_001165963.4(SCN1A):c.5561dup (p.Leu1854fs) |
duplication |
Early infantile epileptic encephalopathy with suppression bursts [RCV001390463] |
Chr2:165991713..165991714 [GRCh38]
Chr2:166848223..166848224 [GRCh37]
Chr2:2q24.3 |
pathogenic |
| NM_001165963.4(SCN1A):c.787C>G (p.Leu263Val) |
single nucleotide variant |
Early infantile epileptic encephalopathy with suppression bursts [RCV002568220]|Familial hemiplegic migraine [RCV001533164] |
Chr2:166051896 [GRCh38]
Chr2:166908406 [GRCh37]
Chr2:2q24.3 |
pathogenic|not provided |
| NM_001165963.4(SCN1A):c.2341_2344del (p.Asn781fs) |
deletion |
Early infantile epileptic encephalopathy with suppression bursts [RCV001386602] |
Chr2:166041302..166041305 [GRCh38]
Chr2:166897812..166897815 [GRCh37]
Chr2:2q24.3 |
pathogenic |
| NM_001165963.4(SCN1A):c.1875C>A (p.Thr625=) |
single nucleotide variant |
Early infantile epileptic encephalopathy with suppression bursts [RCV001429285] |
Chr2:166043837 [GRCh38]
Chr2:166900347 [GRCh37]
Chr2:2q24.3 |
likely benign |
| NM_001165963.4(SCN1A):c.1767C>T (p.Asp589=) |
single nucleotide variant |
Early infantile epileptic encephalopathy with suppression bursts [RCV001405466] |
Chr2:166043945 [GRCh38]
Chr2:166900455 [GRCh37]
Chr2:2q24.3 |
likely benign |
| NM_001165963.4(SCN1A):c.3380T>G (p.Leu1127Ter) |
single nucleotide variant |
Early infantile epileptic encephalopathy with suppression bursts [RCV001386220] |
Chr2:166036097 [GRCh38]
Chr2:166892607 [GRCh37]
Chr2:2q24.3 |
pathogenic |
| NM_001165963.4(SCN1A):c.252T>A (p.Tyr84Ter) |
single nucleotide variant |
Early infantile epileptic encephalopathy with suppression bursts [RCV001388200]|not provided [RCV003311984] |
Chr2:166073370 [GRCh38]
Chr2:166929880 [GRCh37]
Chr2:2q24.3 |
pathogenic |
| NM_001165963.4(SCN1A):c.4515_4516del (p.Lys1506fs) |
deletion |
Early infantile epileptic encephalopathy with suppression bursts [RCV001388243] |
Chr2:165996078..165996079 [GRCh38]
Chr2:166852588..166852589 [GRCh37]
Chr2:2q24.3 |
pathogenic |
| NM_001165963.4(SCN1A):c.4125C>T (p.His1375=) |
single nucleotide variant |
Early infantile epileptic encephalopathy with suppression bursts [RCV001447474] |
Chr2:166002631 [GRCh38]
Chr2:166859141 [GRCh37]
Chr2:2q24.3 |
likely benign |
| NM_001165963.4(SCN1A):c.2904C>G (p.Cys968Trp) |
single nucleotide variant |
Early infantile epileptic encephalopathy with suppression bursts [RCV001379666] |
Chr2:166037818 [GRCh38]
Chr2:166894328 [GRCh37]
Chr2:2q24.3 |
likely pathogenic |
| NM_001165963.4(SCN1A):c.5511G>A (p.Pro1837=) |
single nucleotide variant |
Early infantile epileptic encephalopathy with suppression bursts [RCV001406085] |
Chr2:165991764 [GRCh38]
Chr2:166848274 [GRCh37]
Chr2:2q24.3 |
likely benign |
| NM_001165963.4(SCN1A):c.541del (p.Glu181fs) |
deletion |
Early infantile epileptic encephalopathy with suppression bursts [RCV001386732] |
Chr2:166054699 [GRCh38]
Chr2:166911209 [GRCh37]
Chr2:2q24.3 |
pathogenic |
| NM_001165963.4(SCN1A):c.3109_3119del (p.Ser1037fs) |
deletion |
Early infantile epileptic encephalopathy with suppression bursts [RCV001390494] |
Chr2:166036358..166036368 [GRCh38]
Chr2:166892868..166892878 [GRCh37]
Chr2:2q24.3 |
pathogenic |
| NM_001165963.4(SCN1A):c.3864CTT[1] (p.Phe1289del) |
microsatellite |
Early infantile epileptic encephalopathy with suppression bursts [RCV001385512] |
Chr2:166012119..166012121 [GRCh38]
Chr2:166868629..166868631 [GRCh37]
Chr2:2q24.3 |
pathogenic |
| NM_001165963.4(SCN1A):c.2721C>T (p.Val907=) |
single nucleotide variant |
Early infantile epileptic encephalopathy with suppression bursts [RCV001405880]|not provided [RCV003311988] |
Chr2:166038001 [GRCh38]
Chr2:166894511 [GRCh37]
Chr2:2q24.3 |
likely benign |
| NM_001165963.4(SCN1A):c.3879+10G>A |
single nucleotide variant |
Early infantile epileptic encephalopathy with suppression bursts [RCV001426928] |
Chr2:166012099 [GRCh38]
Chr2:166868609 [GRCh37]
Chr2:2q24.3 |
likely benign |
| NM_001165963.4(SCN1A):c.4428_4429insGTGAAGACACA (p.Leu1477fs) |
insertion |
Early infantile epileptic encephalopathy with suppression bursts [RCV001388642] |
Chr2:165998085..165998086 [GRCh38]
Chr2:166854595..166854596 [GRCh37]
Chr2:2q24.3 |
pathogenic |
| NM_001165963.4(SCN1A):c.3496C>A (p.Gln1166Lys) |
single nucleotide variant |
Early infantile epileptic encephalopathy with suppression bursts [RCV001445252]|Inborn genetic diseases [RCV002456748] |
Chr2:166015661 [GRCh38]
Chr2:166872171 [GRCh37]
Chr2:2q24.3 |
likely benign |
| NM_001165963.4(SCN1A):c.2648T>C (p.Ile883Thr) |
single nucleotide variant |
Generalized epilepsy with febrile seizures plus, type 2 [RCV001526477]|not provided [RCV003136097] |
Chr2:166038074 [GRCh38]
Chr2:166894584 [GRCh37]
Chr2:2q24.3 |
pathogenic|uncertain significance |
| NM_001165963.4(SCN1A):c.3551-1_3551delinsCT |
indel |
Early infantile epileptic encephalopathy with suppression bursts [RCV001377289] |
Chr2:166013898..166013899 [GRCh38]
Chr2:166870408..166870409 [GRCh37]
Chr2:2q24.3 |
likely pathogenic |
| NM_001165963.4(SCN1A):c.2595del (p.Val866fs) |
deletion |
Early infantile epileptic encephalopathy with suppression bursts [RCV001388908] |
Chr2:166038127 [GRCh38]
Chr2:166894637 [GRCh37]
Chr2:2q24.3 |
pathogenic |
| NM_001165963.4(SCN1A):c.5250C>T (p.Ser1750=) |
single nucleotide variant |
Early infantile epileptic encephalopathy with suppression bursts [RCV001431636] |
Chr2:165992025 [GRCh38]
Chr2:166848535 [GRCh37]
Chr2:2q24.3 |
likely benign |
| NM_001165963.4(SCN1A):c.1972del (p.Ser658fs) |
deletion |
Early infantile epileptic encephalopathy with suppression bursts [RCV001386754] |
Chr2:166043740 [GRCh38]
Chr2:166900250 [GRCh37]
Chr2:2q24.3 |
pathogenic |
| NM_001165963.4(SCN1A):c.4002+2461T>C |
single nucleotide variant |
Seizure [RCV001391280] |
Chr2:166007258 [GRCh38]
Chr2:166863768 [GRCh37]
Chr2:2q24.3 |
likely pathogenic |
| NM_001165963.4(SCN1A):c.4095C>G (p.Gly1365=) |
single nucleotide variant |
Early infantile epileptic encephalopathy with suppression bursts [RCV001428441] |
Chr2:166002661 [GRCh38]
Chr2:166859171 [GRCh37]
Chr2:2q24.3 |
likely benign |
| NM_001165963.4(SCN1A):c.2217T>G (p.Tyr739Ter) |
single nucleotide variant |
Early infantile epileptic encephalopathy with suppression bursts [RCV001390993] |
Chr2:166041429 [GRCh38]
Chr2:166897939 [GRCh37]
Chr2:2q24.3 |
pathogenic |
| NM_001165963.4(SCN1A):c.5151A>G (p.Leu1717=) |
single nucleotide variant |
Early infantile epileptic encephalopathy with suppression bursts [RCV001416584] |
Chr2:165992124 [GRCh38]
Chr2:166848634 [GRCh37]
Chr2:2q24.3 |
likely benign |
| NM_001165963.4(SCN1A):c.1389G>A (p.Thr463=) |
single nucleotide variant |
Early infantile epileptic encephalopathy with suppression bursts [RCV001438145] |
Chr2:166045316 [GRCh38]
Chr2:166901826 [GRCh37]
Chr2:2q24.3 |
likely benign |
| NM_001165963.4(SCN1A):c.4283T>A (p.Val1428Asp) |
single nucleotide variant |
Early infantile epileptic encephalopathy with suppression bursts [RCV001381948] |
Chr2:166002473 [GRCh38]
Chr2:166858983 [GRCh37]
Chr2:2q24.3 |
pathogenic |
| NM_001165963.4(SCN1A):c.2791C>G (p.Arg931Gly) |
single nucleotide variant |
Early infantile epileptic encephalopathy with suppression bursts [RCV001377448] |
Chr2:166037931 [GRCh38]
Chr2:166894441 [GRCh37]
Chr2:2q24.3 |
likely pathogenic |
| NM_001165963.4(SCN1A):c.3649_3650insTT (p.His1217fs) |
insertion |
Early infantile epileptic encephalopathy with suppression bursts [RCV001385745] |
Chr2:166013799..166013800 [GRCh38]
Chr2:166870309..166870310 [GRCh37]
Chr2:2q24.3 |
pathogenic |
| NM_001165963.4(SCN1A):c.5224G>A (p.Asp1742Asn) |
single nucleotide variant |
Early infantile epileptic encephalopathy with suppression bursts [RCV001377574] |
Chr2:165992051 [GRCh38]
Chr2:166848561 [GRCh37]
Chr2:2q24.3 |
likely pathogenic |
| NM_001165963.4(SCN1A):c.4555C>T (p.Pro1519Ser) |
single nucleotide variant |
Early infantile epileptic encephalopathy with suppression bursts [RCV001377575] |
Chr2:165996039 [GRCh38]
Chr2:166852549 [GRCh37]
Chr2:2q24.3 |
pathogenic|likely pathogenic |
| NM_001165963.4(SCN1A):c.5783G>A (p.Arg1928His) |
single nucleotide variant |
Early infantile epileptic encephalopathy with suppression bursts [RCV002568236]|Severe myoclonic epilepsy in infancy [RCV001537935] |
Chr2:165991492 [GRCh38]
Chr2:166848002 [GRCh37]
Chr2:2q24.3 |
uncertain significance |
| NM_001165963.4(SCN1A):c.5634G>T (p.Glu1878Asp) |
single nucleotide variant |
Early infantile epileptic encephalopathy with suppression bursts [RCV001435362] |
Chr2:165991641 [GRCh38]
Chr2:166848151 [GRCh37]
Chr2:2q24.3 |
likely benign |
| NM_001165963.4(SCN1A):c.2904C>A (p.Cys968Ter) |
single nucleotide variant |
Early infantile epileptic encephalopathy with suppression bursts [RCV001387942] |
Chr2:166037818 [GRCh38]
Chr2:166894328 [GRCh37]
Chr2:2q24.3 |
pathogenic |
| NM_001165963.4(SCN1A):c.2589+18_2589+19del |
deletion |
not provided [RCV001685433]|not specified [RCV001529885] |
Chr2:166039404..166039405 [GRCh38]
Chr2:166895914..166895915 [GRCh37]
Chr2:2q24.3 |
benign |
| NM_001165963.4(SCN1A):c.3769_3774del (p.Lys1257_Val1258del) |
deletion |
not provided [RCV001531323] |
Chr2:166012214..166012219 [GRCh38]
Chr2:166868724..166868729 [GRCh37]
Chr2:2q24.3 |
likely pathogenic |
| NM_001165963.4(SCN1A):c.962C>G (p.Ser321Ter) |
single nucleotide variant |
Inborn genetic diseases [RCV002564245]|not provided [RCV001508455] |
Chr2:166051721 [GRCh38]
Chr2:166908231 [GRCh37]
Chr2:2q24.3 |
pathogenic |
| NM_001165963.4(SCN1A):c.2370T>C (p.Tyr790=) |
single nucleotide variant |
Early infantile epileptic encephalopathy with suppression bursts [RCV001464394] |
Chr2:166041276 [GRCh38]
Chr2:166897786 [GRCh37]
Chr2:2q24.3 |
likely benign |
| NM_001165963.4(SCN1A):c.2589+17_2589+19del |
deletion |
not provided [RCV001715385] |
Chr2:166039404..166039406 [GRCh38]
Chr2:166895914..166895916 [GRCh37]
Chr2:2q24.3 |
benign |
| NM_001165963.4(SCN1A):c.1032A>G (p.Gln344=) |
single nucleotide variant |
Early infantile epileptic encephalopathy with suppression bursts [RCV001490722] |
Chr2:166047765 [GRCh38]
Chr2:166904275 [GRCh37]
Chr2:2q24.3 |
likely benign |
| NM_001165963.4(SCN1A):c.3889G>A (p.Val1297Ile) |
single nucleotide variant |
Early infantile epileptic encephalopathy with suppression bursts [RCV001866210]|Severe myoclonic epilepsy in infancy [RCV002275213]|not provided [RCV001588181] |
Chr2:166009832 [GRCh38]
Chr2:166866342 [GRCh37]
Chr2:2q24.3 |
benign|likely benign|uncertain significance |
| NM_001165963.4(SCN1A):c.3705+33T>G |
single nucleotide variant |
not provided [RCV001593329] |
Chr2:166013711 [GRCh38]
Chr2:166870221 [GRCh37]
Chr2:2q24.3 |
benign|likely benign |
| NM_001165963.4(SCN1A):c.2044-4A>T |
single nucleotide variant |
Early infantile epileptic encephalopathy with suppression bursts [RCV001502546] |
Chr2:166042428 [GRCh38]
Chr2:166898938 [GRCh37]
Chr2:2q24.3 |
likely benign |
| NM_001165963.4(SCN1A):c.5361G>A (p.Glu1787=) |
single nucleotide variant |
Early infantile epileptic encephalopathy with suppression bursts [RCV001479543] |
Chr2:165991914 [GRCh38]
Chr2:166848424 [GRCh37]
Chr2:2q24.3 |
likely benign |
| NM_001165963.4(SCN1A):c.4668C>A (p.Val1556=) |
single nucleotide variant |
Early infantile epileptic encephalopathy with suppression bursts [RCV001502724] |
Chr2:165994330 [GRCh38]
Chr2:166850840 [GRCh37]
Chr2:2q24.3 |
likely benign |
| NM_001165963.4(SCN1A):c.3724A>G (p.Ile1242Val) |
single nucleotide variant |
Early infantile epileptic encephalopathy with suppression bursts [RCV001483207] |
Chr2:166012264 [GRCh38]
Chr2:166868774 [GRCh37]
Chr2:2q24.3 |
likely benign |
| NM_001165963.4(SCN1A):c.2164A>C (p.Asn722His) |
single nucleotide variant |
Generalized epilepsy with febrile seizures plus, type 2 [RCV001528179] |
Chr2:166042304 [GRCh38]
Chr2:166898814 [GRCh37]
Chr2:2q24.3 |
uncertain significance |
| NM_001165963.4(SCN1A):c.4570C>T (p.Pro1524Ser) |
single nucleotide variant |
Severe myoclonic epilepsy in infancy [RCV001528185] |
Chr2:165996024 [GRCh38]
Chr2:166852534 [GRCh37]
Chr2:2q24.3 |
uncertain significance |
| NM_001165963.4(SCN1A):c.2589+19del |
deletion |
not provided [RCV001528266] |
Chr2:166039404 [GRCh38]
Chr2:166895914 [GRCh37]
Chr2:2q24.3 |
likely benign |
| NM_001165963.4(SCN1A):c.4401C>T (p.Ile1467=) |
single nucleotide variant |
Early infantile epileptic encephalopathy with suppression bursts [RCV001487335] |
Chr2:165998113 [GRCh38]
Chr2:166854623 [GRCh37]
Chr2:2q24.3 |
likely benign |
| NM_001165963.4(SCN1A):c.4582-262GTTT[8] |
microsatellite |
not provided [RCV001684844] |
Chr2:165994650..165994651 [GRCh38]
Chr2:166851160..166851161 [GRCh37]
Chr2:2q24.3 |
benign |
| NM_001165963.4(SCN1A):c.1377+92T>G |
single nucleotide variant |
not provided [RCV001715635] |
Chr2:166046678 [GRCh38]
Chr2:166903188 [GRCh37]
Chr2:2q24.3 |
benign |
| NM_001165963.4(SCN1A):c.4582-262GTTT[9] |
microsatellite |
not provided [RCV001617827] |
Chr2:165994650..165994651 [GRCh38]
Chr2:166851160..166851161 [GRCh37]
Chr2:2q24.3 |
benign |
| NM_001165963.4(SCN1A):c.3225T>C (p.Tyr1075=) |
single nucleotide variant |
Early infantile epileptic encephalopathy with suppression bursts [RCV001477637] |
Chr2:166036252 [GRCh38]
Chr2:166892762 [GRCh37]
Chr2:2q24.3 |
likely benign |
| NM_001165963.4(SCN1A):c.2911G>A (p.Val971Ile) |
single nucleotide variant |
Early infantile epileptic encephalopathy with suppression bursts [RCV002571171]|Inborn genetic diseases [RCV003355522]|not provided [RCV001591957] |
Chr2:166037811 [GRCh38]
Chr2:166894321 [GRCh37]
Chr2:2q24.3 |
likely pathogenic|uncertain significance |
| NM_001165963.4(SCN1A):c.3551-67G>A |
single nucleotide variant |
not provided [RCV001591959] |
Chr2:166013965 [GRCh38]
Chr2:166870475 [GRCh37]
Chr2:2q24.3 |
likely benign |
| NM_001165963.4(SCN1A):c.4573C>A (p.Arg1525=) |
single nucleotide variant |
Early infantile epileptic encephalopathy with suppression bursts [RCV001456680] |
Chr2:165996021 [GRCh38]
Chr2:166852531 [GRCh37]
Chr2:2q24.3 |
likely benign |
| NM_001165963.4(SCN1A):c.2589+16_2589+19del |
deletion |
not provided [RCV001612179] |
Chr2:166039404..166039407 [GRCh38]
Chr2:166895914..166895917 [GRCh37]
Chr2:2q24.3 |
benign |
| NM_001165963.4(SCN1A):c.2177-29G>C |
single nucleotide variant |
not provided [RCV001648291] |
Chr2:166041498 [GRCh38]
Chr2:166898008 [GRCh37]
Chr2:2q24.3 |
benign |
| NM_001165963.4(SCN1A):c.5751A>G (p.Val1917=) |
single nucleotide variant |
Early infantile epileptic encephalopathy with suppression bursts [RCV001425101] |
Chr2:165991524 [GRCh38]
Chr2:166848034 [GRCh37]
Chr2:2q24.3 |
likely benign |
| NM_001165963.4(SCN1A):c.4017C>T (p.Ala1339=) |
single nucleotide variant |
Early infantile epileptic encephalopathy with suppression bursts [RCV001482660] |
Chr2:166002739 [GRCh38]
Chr2:166859249 [GRCh37]
Chr2:2q24.3 |
likely benign |
| NM_001165963.4(SCN1A):c.2244G>A (p.Trp748Ter) |
single nucleotide variant |
Early infantile epileptic encephalopathy with suppression bursts [RCV001381061]|not provided [RCV001816000] |
Chr2:166041402 [GRCh38]
Chr2:166897912 [GRCh37]
Chr2:2q24.3 |
pathogenic |
| NM_001165963.4(SCN1A):c.1659_1660insT (p.Gln554fs) |
insertion |
Early infantile epileptic encephalopathy with suppression bursts [RCV001381107] |
Chr2:166045045..166045046 [GRCh38]
Chr2:166901555..166901556 [GRCh37]
Chr2:2q24.3 |
pathogenic |
| NM_001165963.4(SCN1A):c.509_510del (p.Leu170fs) |
deletion |
Early infantile epileptic encephalopathy with suppression bursts [RCV001381108] |
Chr2:166054730..166054731 [GRCh38]
Chr2:166911240..166911241 [GRCh37]
Chr2:2q24.3 |
pathogenic |
| NM_001165963.4(SCN1A):c.1845A>G (p.Gly615=) |
single nucleotide variant |
Early infantile epileptic encephalopathy with suppression bursts [RCV001456808] |
Chr2:166043867 [GRCh38]
Chr2:166900377 [GRCh37]
Chr2:2q24.3 |
likely benign |
| NM_001165963.4(SCN1A):c.3954A>G (p.Leu1318=) |
single nucleotide variant |
Early infantile epileptic encephalopathy with suppression bursts [RCV001504605] |
Chr2:166009767 [GRCh38]
Chr2:166866277 [GRCh37]
Chr2:2q24.3 |
likely benign |
| NM_001165963.4(SCN1A):c.1517del (p.Gln506fs) |
deletion |
Early infantile epileptic encephalopathy with suppression bursts [RCV001385055] |
Chr2:166045188 [GRCh38]
Chr2:166901698 [GRCh37]
Chr2:2q24.3 |
pathogenic |
| NM_001165963.4(SCN1A):c.2796G>T (p.Trp932Cys) |
single nucleotide variant |
Early infantile epileptic encephalopathy with suppression bursts [RCV001378135] |
Chr2:166037926 [GRCh38]
Chr2:166894436 [GRCh37]
Chr2:2q24.3 |
likely pathogenic |
| NM_001165963.4(SCN1A):c.5036T>C (p.Leu1679Pro) |
single nucleotide variant |
Early infantile epileptic encephalopathy with suppression bursts [RCV001379772] |
Chr2:165992239 [GRCh38]
Chr2:166848749 [GRCh37]
Chr2:2q24.3 |
likely pathogenic |
| NM_001165963.4(SCN1A):c.3582C>T (p.Ile1194=) |
single nucleotide variant |
Early infantile epileptic encephalopathy with suppression bursts [RCV001439662] |
Chr2:166013867 [GRCh38]
Chr2:166870377 [GRCh37]
Chr2:2q24.3 |
likely benign |
| NM_001165963.4(SCN1A):c.1107T>C (p.Ser369=) |
single nucleotide variant |
Early infantile epileptic encephalopathy with suppression bursts [RCV001506560] |
Chr2:166047690 [GRCh38]
Chr2:166904200 [GRCh37]
Chr2:2q24.3 |
likely benign |
| NM_001165963.4(SCN1A):c.3429+1G>A |
single nucleotide variant |
Early infantile epileptic encephalopathy with suppression bursts [RCV001390891] |
Chr2:166036047 [GRCh38]
Chr2:166892557 [GRCh37]
Chr2:2q24.3 |
pathogenic |
| NM_001165963.4(SCN1A):c.4539A>G (p.Lys1513=) |
single nucleotide variant |
Early infantile epileptic encephalopathy with suppression bursts [RCV001481705] |
Chr2:165996055 [GRCh38]
Chr2:166852565 [GRCh37]
Chr2:2q24.3 |
likely benign |
| NM_001165963.4(SCN1A):c.3201A>C (p.Ala1067=) |
single nucleotide variant |
Early infantile epileptic encephalopathy with suppression bursts [RCV001457693] |
Chr2:166036276 [GRCh38]
Chr2:166892786 [GRCh37]
Chr2:2q24.3 |
likely benign |
| NM_001165963.4(SCN1A):c.3706-12dup |
duplication |
Early infantile epileptic encephalopathy with suppression bursts [RCV001514605] |
Chr2:166012290..166012291 [GRCh38]
Chr2:166868800..166868801 [GRCh37]
Chr2:2q24.3 |
benign |
| NM_001165963.4(SCN1A):c.1003C>T (p.Leu335=) |
single nucleotide variant |
Early infantile epileptic encephalopathy with suppression bursts [RCV001406305] |
Chr2:166048911 [GRCh38]
Chr2:166905421 [GRCh37]
Chr2:2q24.3 |
likely benign |
| NM_001165963.4(SCN1A):c.265-7C>T |
single nucleotide variant |
Early infantile epileptic encephalopathy with suppression bursts [RCV001482263] |
Chr2:166058695 [GRCh38]
Chr2:166915205 [GRCh37]
Chr2:2q24.3 |
likely benign |
| NM_001165963.4(SCN1A):c.2655T>C (p.Asn885=) |
single nucleotide variant |
Early infantile epileptic encephalopathy with suppression bursts [RCV001488684] |
Chr2:166038067 [GRCh38]
Chr2:166894577 [GRCh37]
Chr2:2q24.3 |
likely benign |
| NM_001165963.4(SCN1A):c.5610T>A (p.Ala1870=) |
single nucleotide variant |
Early infantile epileptic encephalopathy with suppression bursts [RCV001459037]|not provided [RCV001664887] |
Chr2:165991665 [GRCh38]
Chr2:166848175 [GRCh37]
Chr2:2q24.3 |
likely benign |
| NM_001165963.4(SCN1A):c.480del (p.Phe161fs) |
deletion |
Early infantile epileptic encephalopathy with suppression bursts [RCV001388711] |
Chr2:166054760 [GRCh38]
Chr2:166911270 [GRCh37]
Chr2:2q24.3 |
pathogenic |
| NC_000002.11:g.(?_166605291)_(167168266_?)del |
deletion |
not provided [RCV001388756] |
Chr2:166605291..167168266 [GRCh37]
Chr2:2q24.3 |
pathogenic |
| NM_001165963.4(SCN1A):c.5781A>G (p.Arg1927=) |
single nucleotide variant |
Early infantile epileptic encephalopathy with suppression bursts [RCV001429482] |
Chr2:165991494 [GRCh38]
Chr2:166848004 [GRCh37]
Chr2:2q24.3 |
likely benign |
| NM_001165963.4(SCN1A):c.5048T>C (p.Ile1683Thr) |
single nucleotide variant |
Early infantile epileptic encephalopathy with suppression bursts [RCV001385323] |
Chr2:165992227 [GRCh38]
Chr2:166848737 [GRCh37]
Chr2:2q24.3 |
pathogenic |
| NM_001165963.4(SCN1A):c.4204del (p.Arg1402fs) |
deletion |
Early infantile epileptic encephalopathy with suppression bursts [RCV001386928] |
Chr2:166002552 [GRCh38]
Chr2:166859062 [GRCh37]
Chr2:2q24.3 |
pathogenic |
| NM_001165963.4(SCN1A):c.3525dup (p.Glu1176Ter) |
duplication |
Early infantile epileptic encephalopathy with suppression bursts [RCV001381928] |
Chr2:166015631..166015632 [GRCh38]
Chr2:166872141..166872142 [GRCh37]
Chr2:2q24.3 |
pathogenic |
| NM_001165963.4(SCN1A):c.4634T>A (p.Ile1545Lys) |
single nucleotide variant |
Early infantile epileptic encephalopathy with suppression bursts [RCV001378447] |
Chr2:165994364 [GRCh38]
Chr2:166850874 [GRCh37]
Chr2:2q24.3 |
likely pathogenic |
| NM_001165963.4(SCN1A):c.596del (p.Thr199fs) |
deletion |
Early infantile epileptic encephalopathy with suppression bursts [RCV001387194] |
Chr2:166054644 [GRCh38]
Chr2:166911154 [GRCh37]
Chr2:2q24.3 |
pathogenic |
| NM_001165963.4(SCN1A):c.3407C>A (p.Ser1136Ter) |
single nucleotide variant |
Early infantile epileptic encephalopathy with suppression bursts [RCV001387195] |
Chr2:166036070 [GRCh38]
Chr2:166892580 [GRCh37]
Chr2:2q24.3 |
pathogenic |
| NM_001165963.4(SCN1A):c.3869T>A (p.Leu1290Ter) |
single nucleotide variant |
Early infantile epileptic encephalopathy with suppression bursts [RCV001385511] |
Chr2:166012119 [GRCh38]
Chr2:166868629 [GRCh37]
Chr2:2q24.3 |
pathogenic |
| NM_001165963.4(SCN1A):c.5874C>T (p.Asp1958=) |
single nucleotide variant |
Early infantile epileptic encephalopathy with suppression bursts [RCV001503633] |
Chr2:165991401 [GRCh38]
Chr2:166847911 [GRCh37]
Chr2:2q24.3 |
likely benign |
| NM_001165963.4(SCN1A):c.3551-2A>T |
single nucleotide variant |
Early infantile epileptic encephalopathy with suppression bursts [RCV001378655] |
Chr2:166013900 [GRCh38]
Chr2:166870410 [GRCh37]
Chr2:2q24.3 |
likely pathogenic |
| NM_001165963.4(SCN1A):c.5662_5663del (p.Gln1888fs) |
deletion |
Early infantile epileptic encephalopathy with suppression bursts [RCV001389556] |
Chr2:165991612..165991613 [GRCh38]
Chr2:166848122..166848123 [GRCh37]
Chr2:2q24.3 |
pathogenic |
| NM_001165963.4(SCN1A):c.997G>A (p.Ala333Thr) |
single nucleotide variant |
Early infantile epileptic encephalopathy with suppression bursts [RCV001377323] |
Chr2:166048917 [GRCh38]
Chr2:166905427 [GRCh37]
Chr2:2q24.3 |
likely pathogenic |
| NM_001165963.4(SCN1A):c.1008T>A (p.Cys336Ter) |
single nucleotide variant |
Early infantile epileptic encephalopathy with suppression bursts [RCV001386040] |
Chr2:166048906 [GRCh38]
Chr2:166905416 [GRCh37]
Chr2:2q24.3 |
pathogenic |
| NM_001165963.4(SCN1A):c.231_247del (p.Glu78fs) |
deletion |
Early infantile epileptic encephalopathy with suppression bursts [RCV001384181] |
Chr2:166073375..166073391 [GRCh38]
Chr2:166929885..166929901 [GRCh37]
Chr2:2q24.3 |
pathogenic |
| NM_001165963.4(SCN1A):c.3651T>C (p.His1217=) |
single nucleotide variant |
Early infantile epileptic encephalopathy with suppression bursts [RCV001462093] |
Chr2:166013798 [GRCh38]
Chr2:166870308 [GRCh37]
Chr2:2q24.3 |
likely benign |
| NM_001165963.4(SCN1A):c.2887del (p.Ala963fs) |
deletion |
Early infantile epileptic encephalopathy with suppression bursts [RCV001386225] |
Chr2:166037835 [GRCh38]
Chr2:166894345 [GRCh37]
Chr2:2q24.3 |
pathogenic |
| NM_001165963.4(SCN1A):c.5179G>C (p.Asp1727His) |
single nucleotide variant |
Early infantile epileptic encephalopathy with suppression bursts [RCV001377447] |
Chr2:165992096 [GRCh38]
Chr2:166848606 [GRCh37]
Chr2:2q24.3 |
pathogenic|likely pathogenic |
| NM_001165963.4(SCN1A):c.4681G>A (p.Glu1561Lys) |
single nucleotide variant |
Early infantile epileptic encephalopathy with suppression bursts [RCV001379444] |
Chr2:165994317 [GRCh38]
Chr2:166850827 [GRCh37]
Chr2:2q24.3 |
likely pathogenic |
| NM_001165963.4(SCN1A):c.1875C>T (p.Thr625=) |
single nucleotide variant |
Early infantile epileptic encephalopathy with suppression bursts [RCV001484009] |
Chr2:166043837 [GRCh38]
Chr2:166900347 [GRCh37]
Chr2:2q24.3 |
likely benign |
| NM_001165963.4(SCN1A):c.514A>T (p.Lys172Ter) |
single nucleotide variant |
not provided [RCV001538877] |
Chr2:166054726 [GRCh38]
Chr2:166911236 [GRCh37]
Chr2:2q24.3 |
pathogenic |
| NM_001165963.4(SCN1A):c.2862G>C (p.Glu954Asp) |
single nucleotide variant |
Early infantile epileptic encephalopathy with suppression bursts [RCV001384352] |
Chr2:166037860 [GRCh38]
Chr2:166894370 [GRCh37]
Chr2:2q24.3 |
pathogenic |
| NM_001165963.4(SCN1A):c.4481G>A (p.Gly1494Glu) |
single nucleotide variant |
Early infantile epileptic encephalopathy with suppression bursts [RCV001377440] |
Chr2:165996113 [GRCh38]
Chr2:166852623 [GRCh37]
Chr2:2q24.3 |
likely pathogenic |
| NC_000002.11:g.(?_166859045)_166864276del |
deletion |
Early infantile epileptic encephalopathy with suppression bursts [RCV001380544] |
|
pathogenic |
| NC_000002.11:g.(?_166907827)_166909401del |
deletion |
Early infantile epileptic encephalopathy with suppression bursts [RCV001380545] |
|
pathogenic |
| NC_000002.11:g.(?_166900200)_166907805del |
deletion |
Early infantile epileptic encephalopathy with suppression bursts [RCV001380546] |
|
pathogenic |
| NM_001165963.4(SCN1A):c.2355G>A (p.Met785Ile) |
single nucleotide variant |
Early infantile epileptic encephalopathy with suppression bursts [RCV001377649] |
Chr2:166041291 [GRCh38]
Chr2:166897801 [GRCh37]
Chr2:2q24.3 |
likely pathogenic |
| NM_001165963.4(SCN1A):c.2520G>T (p.Val840=) |
single nucleotide variant |
Early infantile epileptic encephalopathy with suppression bursts [RCV001419284]|not provided [RCV001773748] |
Chr2:166039492 [GRCh38]
Chr2:166896002 [GRCh37]
Chr2:2q24.3 |
likely benign|conflicting interpretations of pathogenicity|uncertain significance |
| NM_001165963.4(SCN1A):c.4852+1G>A |
single nucleotide variant |
Early infantile epileptic encephalopathy with suppression bursts [RCV001387751] |
Chr2:165994145 [GRCh38]
Chr2:166850655 [GRCh37]
Chr2:2q24.3 |
pathogenic |
| NM_001165963.4(SCN1A):c.4847T>C (p.Ile1616Thr) |
single nucleotide variant |
Early infantile epileptic encephalopathy with suppression bursts [RCV001387752]|Generalized epilepsy with febrile seizures plus, type 2 [RCV001724308]|Inborn genetic diseases [RCV002341829] |
Chr2:165994151 [GRCh38]
Chr2:166850661 [GRCh37]
Chr2:2q24.3 |
pathogenic|likely pathogenic|uncertain significance |
| NM_001165963.4(SCN1A):c.4257A>T (p.Gly1419=) |
single nucleotide variant |
Early infantile epileptic encephalopathy with suppression bursts [RCV001435658] |
Chr2:166002499 [GRCh38]
Chr2:166859009 [GRCh37]
Chr2:2q24.3 |
likely benign |
| NM_001165963.4(SCN1A):c.172G>A (p.Gly58Arg) |
single nucleotide variant |
Early infantile epileptic encephalopathy with suppression bursts [RCV001377989] |
Chr2:166073450 [GRCh38]
Chr2:166929960 [GRCh37]
Chr2:2q24.3 |
pathogenic|likely pathogenic |
| NM_001165963.4(SCN1A):c.4433T>G (p.Phe1478Cys) |
single nucleotide variant |
not provided [RCV001756464] |
Chr2:165998081 [GRCh38]
Chr2:166854591 [GRCh37]
Chr2:2q24.3 |
uncertain significance |
| NM_001165963.4(SCN1A):c.2993A>G (p.Asp998Gly) |
single nucleotide variant |
not provided [RCV001756557] |
Chr2:166036484 [GRCh38]
Chr2:166892994 [GRCh37]
Chr2:2q24.3 |
uncertain significance |
| NM_001165963.4(SCN1A):c.2177-43G>A |
single nucleotide variant |
not provided [RCV001732726] |
Chr2:166041512 [GRCh38]
Chr2:166898022 [GRCh37]
Chr2:2q24.3 |
likely benign |
| NM_001165963.4(SCN1A):c.5531C>T (p.Pro1844Leu) |
single nucleotide variant |
not specified [RCV002248180] |
Chr2:165991744 [GRCh38]
Chr2:166848254 [GRCh37]
Chr2:2q24.3 |
uncertain significance |
| NM_001165963.4(SCN1A):c.2344A>G (p.Thr782Ala) |
single nucleotide variant |
SCN1A-related conditions [RCV001730183] |
Chr2:166041302 [GRCh38]
Chr2:166897812 [GRCh37]
Chr2:2q24.3 |
likely pathogenic |
| NM_001165963.4(SCN1A):c.5018T>C (p.Ile1673Thr) |
single nucleotide variant |
not provided [RCV001732483] |
Chr2:165992257 [GRCh38]
Chr2:166848767 [GRCh37]
Chr2:2q24.3 |
likely pathogenic |
| NM_001165963.4(SCN1A):c.4156G>T (p.Asp1386Tyr) |
single nucleotide variant |
not provided [RCV001727167] |
Chr2:166002600 [GRCh38]
Chr2:166859110 [GRCh37]
Chr2:2q24.3 |
uncertain significance |
| NM_001165963.4(SCN1A):c.4284+1G>A |
single nucleotide variant |
Severe myoclonic epilepsy in infancy [RCV001731221] |
Chr2:166002471 [GRCh38]
Chr2:166858981 [GRCh37]
Chr2:2q24.3 |
pathogenic |
| NM_001165963.4(SCN1A):c.1141C>G (p.Gln381Glu) |
single nucleotide variant |
not provided [RCV001732596] |
Chr2:166047656 [GRCh38]
Chr2:166904166 [GRCh37]
Chr2:2q24.3 |
likely pathogenic |
| NM_001165963.4(SCN1A):c.5635A>G (p.Ser1879Gly) |
single nucleotide variant |
not provided [RCV001755076] |
Chr2:165991640 [GRCh38]
Chr2:166848150 [GRCh37]
Chr2:2q24.3 |
uncertain significance |
| NM_001165963.4(SCN1A):c.3457G>A (p.Glu1153Lys) |
single nucleotide variant |
not provided [RCV001755002] |
Chr2:166015700 [GRCh38]
Chr2:166872210 [GRCh37]
Chr2:2q24.3 |
uncertain significance |
| NM_001165963.4(SCN1A):c.4905C>G (p.Phe1635Leu) |
single nucleotide variant |
not provided [RCV001727165] |
Chr2:165992370 [GRCh38]
Chr2:166848880 [GRCh37]
Chr2:2q24.3 |
uncertain significance |
| NM_001165963.4(SCN1A):c.4190T>C (p.Leu1397Pro) |
single nucleotide variant |
not provided [RCV001727166] |
Chr2:166002566 [GRCh38]
Chr2:166859076 [GRCh37]
Chr2:2q24.3 |
uncertain significance |
| NM_001165963.4(SCN1A):c.5318_5324del (p.Ser1773fs) |
deletion |
Generalized epilepsy with febrile seizures plus, type 2 [RCV002250306] |
Chr2:165991951..165991957 [GRCh38]
Chr2:166848461..166848467 [GRCh37]
Chr2:2q24.3 |
pathogenic |
| NM_001165963.4(SCN1A):c.5177G>C (p.Trp1726Ser) |
single nucleotide variant |
Generalized epilepsy with febrile seizures plus, type 2 [RCV002250307] |
Chr2:165992098 [GRCh38]
Chr2:166848608 [GRCh37]
Chr2:2q24.3 |
pathogenic |
| NM_001165963.4(SCN1A):c.5005G>A (p.Ala1669Thr) |
single nucleotide variant |
Generalized epilepsy with febrile seizures plus, type 2 [RCV002250308] |
Chr2:165992270 [GRCh38]
Chr2:166848780 [GRCh37]
Chr2:2q24.3 |
pathogenic |
| NM_001165963.4(SCN1A):c.4429del (p.Leu1477fs) |
deletion |
Generalized epilepsy with febrile seizures plus, type 2 [RCV002250309] |
Chr2:165998085 [GRCh38]
Chr2:166854595 [GRCh37]
Chr2:2q24.3 |
pathogenic |
| NM_001165963.4(SCN1A):c.2951T>C (p.Leu984Pro) |
single nucleotide variant |
Generalized epilepsy with febrile seizures plus, type 2 [RCV002250314] |
Chr2:166036526 [GRCh38]
Chr2:166893036 [GRCh37]
Chr2:2q24.3 |
pathogenic |
| NM_001165963.4(SCN1A):c.2644del (p.Ile882fs) |
deletion |
Generalized epilepsy with febrile seizures plus, type 2 [RCV002250317] |
Chr2:166038078 [GRCh38]
Chr2:166894588 [GRCh37]
Chr2:2q24.3 |
pathogenic |
| NM_001165963.4(SCN1A):c.2475C>A (p.Tyr825Ter) |
single nucleotide variant |
Generalized epilepsy with febrile seizures plus, type 2 [RCV002250318] |
Chr2:166039537 [GRCh38]
Chr2:166896047 [GRCh37]
Chr2:2q24.3 |
pathogenic |
| NM_001165963.4(SCN1A):c.2287del (p.Leu763fs) |
deletion |
Generalized epilepsy with febrile seizures plus, type 2 [RCV002250319] |
Chr2:166041359 [GRCh38]
Chr2:166897869 [GRCh37]
Chr2:2q24.3 |
pathogenic |
| NM_001165963.4(SCN1A):c.1751_1752dup (p.Gly585fs) |
microsatellite |
Generalized epilepsy with febrile seizures plus, type 2 [RCV002250321] |
Chr2:166043959..166043960 [GRCh38]
Chr2:166900469..166900470 [GRCh37]
Chr2:2q24.3 |
pathogenic |
| NM_001165963.4(SCN1A):c.1048_1051del (p.Met350fs) |
deletion |
Generalized epilepsy with febrile seizures plus, type 2 [RCV002250322] |
Chr2:166047746..166047749 [GRCh38]
Chr2:166904256..166904259 [GRCh37]
Chr2:2q24.3 |
pathogenic |
| NM_001165963.4(SCN1A):c.716C>A (p.Ala239Asp) |
single nucleotide variant |
Generalized epilepsy with febrile seizures plus, type 2 [RCV002250325] |
Chr2:166051967 [GRCh38]
Chr2:166908477 [GRCh37]
Chr2:2q24.3 |
pathogenic |
| NM_001165963.4(SCN1A):c.195T>G (p.Tyr65Ter) |
single nucleotide variant |
Generalized epilepsy with febrile seizures plus, type 2 [RCV002250326] |
Chr2:166073427 [GRCh38]
Chr2:166929937 [GRCh37]
Chr2:2q24.3 |
pathogenic |
| NM_001165963.4(SCN1A):c.3379T>G (p.Leu1127Val) |
single nucleotide variant |
not provided [RCV001756602] |
Chr2:166036098 [GRCh38]
Chr2:166892608 [GRCh37]
Chr2:2q24.3 |
uncertain significance |
| NM_001165963.4(SCN1A):c.5426A>G (p.Tyr1809Cys) |
single nucleotide variant |
not provided [RCV001756429] |
Chr2:165991849 [GRCh38]
Chr2:166848359 [GRCh37]
Chr2:2q24.3 |
uncertain significance |
| NM_001165963.4(SCN1A):c.200A>T (p.Asp67Val) |
single nucleotide variant |
not provided [RCV001755096] |
Chr2:166073422 [GRCh38]
Chr2:166929932 [GRCh37]
Chr2:2q24.3 |
uncertain significance |
| NM_001165963.4(SCN1A):c.3064_3065delinsAA (p.Gly1022Lys) |
indel |
not provided [RCV001754989] |
Chr2:166036412..166036413 [GRCh38]
Chr2:166892922..166892923 [GRCh37]
Chr2:2q24.3 |
uncertain significance |
| NM_001165963.4(SCN1A):c.3092A>G (p.Tyr1031Cys) |
single nucleotide variant |
not provided [RCV001754734] |
Chr2:166036385 [GRCh38]
Chr2:166892895 [GRCh37]
Chr2:2q24.3 |
uncertain significance |
| NM_001165963.4(SCN1A):c.2402C>T (p.Thr801Ile) |
single nucleotide variant |
not provided [RCV001755175] |
Chr2:166041244 [GRCh38]
Chr2:166897754 [GRCh37]
Chr2:2q24.3 |
uncertain significance |
| NM_001165963.4(SCN1A):c.5489dup (p.Phe1831fs) |
duplication |
Early infantile epileptic encephalopathy with suppression bursts [RCV002539801]|Severe myoclonic epilepsy in infancy [RCV001731219] |
Chr2:165991785..165991786 [GRCh38]
Chr2:166848295..166848296 [GRCh37]
Chr2:2q24.3 |
pathogenic |
| NM_001165963.4(SCN1A):c.2150C>A (p.Ala717Asp) |
single nucleotide variant |
not provided [RCV001779887] |
Chr2:166042318 [GRCh38]
Chr2:166898828 [GRCh37]
Chr2:2q24.3 |
uncertain significance |
| NM_001165963.4(SCN1A):c.3233A>C (p.Asp1078Ala) |
single nucleotide variant |
SCN1A-related condition [RCV003403746]|not provided [RCV002245141] |
Chr2:166036244 [GRCh38]
Chr2:166892754 [GRCh37]
Chr2:2q24.3 |
uncertain significance |
| NM_001165963.4(SCN1A):c.1895T>A (p.Leu632Gln) |
single nucleotide variant |
Early infantile epileptic encephalopathy with suppression bursts [RCV002539832]|not provided [RCV001732848] |
Chr2:166043817 [GRCh38]
Chr2:166900327 [GRCh37]
Chr2:2q24.3 |
likely benign|uncertain significance |
| NM_001165963.4(SCN1A):c.3068del (p.Val1023fs) |
deletion |
not provided [RCV003126328] |
Chr2:166036409 [GRCh38]
Chr2:166892919 [GRCh37]
Chr2:2q24.3 |
pathogenic |
| NM_001165963.4(SCN1A):c.2948T>G (p.Val983Gly) |
single nucleotide variant |
Generalized epilepsy with febrile seizures plus, type 2 [RCV002249158] |
Chr2:166036529 [GRCh38]
Chr2:166893039 [GRCh37]
Chr2:2q24.3 |
likely pathogenic |
| NM_001165963.4(SCN1A):c.4265A>T (p.Tyr1422Phe) |
single nucleotide variant |
Generalized epilepsy with febrile seizures plus, type 2 [RCV001779411] |
Chr2:166002491 [GRCh38]
Chr2:166859001 [GRCh37]
Chr2:2q24.3 |
likely pathogenic |
| NM_001165963.4(SCN1A):c.3166A>C (p.Asn1056His) |
single nucleotide variant |
not provided [RCV001763927] |
Chr2:166036311 [GRCh38]
Chr2:166892821 [GRCh37]
Chr2:2q24.3 |
uncertain significance |
| NM_001165963.4(SCN1A):c.1905T>G (p.Phe635Leu) |
single nucleotide variant |
not provided [RCV001769312] |
Chr2:166043807 [GRCh38]
Chr2:166900317 [GRCh37]
Chr2:2q24.3 |
uncertain significance |
| NM_001165963.4(SCN1A):c.1606T>G (p.Phe536Val) |
single nucleotide variant |
not provided [RCV001754053] |
Chr2:166045099 [GRCh38]
Chr2:166901609 [GRCh37]
Chr2:2q24.3 |
uncertain significance |
| NM_001165963.4(SCN1A):c.3514G>A (p.Glu1172Lys) |
single nucleotide variant |
Early infantile epileptic encephalopathy with suppression bursts [RCV002538809]|not provided [RCV001772479] |
Chr2:166015643 [GRCh38]
Chr2:166872153 [GRCh37]
Chr2:2q24.3 |
uncertain significance |
| NM_001165963.4(SCN1A):c.2330G>A (p.Cys777Tyr) |
single nucleotide variant |
Early infantile epileptic encephalopathy with suppression bursts [RCV001882877]|not provided [RCV001772510] |
Chr2:166041316 [GRCh38]
Chr2:166897826 [GRCh37]
Chr2:2q24.3 |
uncertain significance |
| NM_001165963.4(SCN1A):c.*1750T>C |
single nucleotide variant |
not provided [RCV001786036] |
Chr2:165989495 [GRCh38]
Chr2:166846005 [GRCh37]
Chr2:2q24.3 |
likely benign |
| NM_001165963.4(SCN1A):c.840G>A (p.Trp280Ter) |
single nucleotide variant |
not provided [RCV001784939] |
Chr2:166051843 [GRCh38]
Chr2:166908353 [GRCh37]
Chr2:2q24.3 |
pathogenic |
| NM_001165963.4(SCN1A):c.4853-1G>A |
single nucleotide variant |
not provided [RCV001784942] |
Chr2:165992423 [GRCh38]
Chr2:166848933 [GRCh37]
Chr2:2q24.3 |
pathogenic |
| NM_001165963.4(SCN1A):c.2057A>G (p.Glu686Gly) |
single nucleotide variant |
not provided [RCV001772753] |
Chr2:166042411 [GRCh38]
Chr2:166898921 [GRCh37]
Chr2:2q24.3 |
uncertain significance |
| NM_001165963.4(SCN1A):c.4699G>A (p.Glu1567Lys) |
single nucleotide variant |
Early infantile epileptic encephalopathy with suppression bursts [RCV002541263]|not provided [RCV001787566] |
Chr2:165994299 [GRCh38]
Chr2:166850809 [GRCh37]
Chr2:2q24.3 |
uncertain significance |
| NM_001165963.4(SCN1A):c.5877_5879del (p.Met1959del) |
deletion |
not provided [RCV001771149] |
Chr2:165991396..165991398 [GRCh38]
Chr2:166847906..166847908 [GRCh37]
Chr2:2q24.3 |
uncertain significance |
| NM_001165963.4(SCN1A):c.121A>G (p.Lys41Glu) |
single nucleotide variant |
not provided [RCV001763063] |
Chr2:166073501 [GRCh38]
Chr2:166930011 [GRCh37]
Chr2:2q24.3 |
uncertain significance |
| NM_001165963.4(SCN1A):c.5684C>A (p.Ala1895Asp) |
single nucleotide variant |
Early infantile epileptic encephalopathy with suppression bursts [RCV003772043]|not provided [RCV001773064] |
Chr2:165991591 [GRCh38]
Chr2:166848101 [GRCh37]
Chr2:2q24.3 |
uncertain significance |
| NM_001165963.4(SCN1A):c.916A>C (p.Asn306His) |
single nucleotide variant |
not provided [RCV001771202] |
Chr2:166051767 [GRCh38]
Chr2:166908277 [GRCh37]
Chr2:2q24.3 |
uncertain significance |
| NM_001165963.4(SCN1A):c.1465_1480del (p.Ser490fs) |
deletion |
Generalized epilepsy with febrile seizures plus, type 2 [RCV001785388] |
Chr2:166045225..166045240 [GRCh38]
Chr2:166901735..166901750 [GRCh37]
Chr2:2q24.3 |
likely pathogenic |
| NM_001165963.4(SCN1A):c.5300T>A (p.Val1767Asp) |
single nucleotide variant |
Severe myoclonic epilepsy in infancy [RCV001788511] |
Chr2:165991975 [GRCh38]
Chr2:166848485 [GRCh37]
Chr2:2q24.3 |
pathogenic |
| NM_001165963.4(SCN1A):c.3188C>T (p.Ser1063Phe) |
single nucleotide variant |
not provided [RCV001752471] |
Chr2:166036289 [GRCh38]
Chr2:166892799 [GRCh37]
Chr2:2q24.3 |
uncertain significance |
| NM_001165963.4(SCN1A):c.3637C>G (p.Arg1213Gly) |
single nucleotide variant |
not provided [RCV001763450] |
Chr2:166013812 [GRCh38]
Chr2:166870322 [GRCh37]
Chr2:2q24.3 |
uncertain significance |
| NM_001165963.4(SCN1A):c.3542T>C (p.Phe1181Ser) |
single nucleotide variant |
not provided [RCV001767826] |
Chr2:166015615 [GRCh38]
Chr2:166872125 [GRCh37]
Chr2:2q24.3 |
uncertain significance |
| NM_001165963.4(SCN1A):c.4217C>A (p.Ala1406Asp) |
single nucleotide variant |
not provided [RCV001767838] |
Chr2:166002539 [GRCh38]
Chr2:166859049 [GRCh37]
Chr2:2q24.3 |
uncertain significance |
| NM_001165963.4(SCN1A):c.376G>A (p.Val126Ile) |
single nucleotide variant |
Early infantile epileptic encephalopathy with suppression bursts [RCV001868493]|not provided [RCV001767856] |
Chr2:166058577 [GRCh38]
Chr2:166915087 [GRCh37]
Chr2:2q24.3 |
uncertain significance |
| NM_001165963.4(SCN1A):c.6021A>T (p.Lys2007Asn) |
single nucleotide variant |
not provided [RCV001767245] |
Chr2:165991254 [GRCh38]
Chr2:166847764 [GRCh37]
Chr2:2q24.3 |
uncertain significance |
| NM_001165963.4(SCN1A):c.3500C>T (p.Pro1167Leu) |
single nucleotide variant |
not provided [RCV001772743] |
Chr2:166015657 [GRCh38]
Chr2:166872167 [GRCh37]
Chr2:2q24.3 |
uncertain significance |
| NM_001165963.4(SCN1A):c.5917dup (p.Thr1973fs) |
duplication |
not provided [RCV001754597] |
Chr2:165991357..165991358 [GRCh38]
Chr2:166847867..166847868 [GRCh37]
Chr2:2q24.3 |
uncertain significance |
| NM_001165963.4(SCN1A):c.5693C>T (p.Pro1898Leu) |
single nucleotide variant |
not provided [RCV001774625] |
Chr2:165991582 [GRCh38]
Chr2:166848092 [GRCh37]
Chr2:2q24.3 |
uncertain significance |
| GRCh37/hg19 2q24.3(chr2:166152284-167760450)x1 |
copy number loss |
Severe myoclonic epilepsy in infancy [RCV001801211] |
Chr2:166152284..167760450 [GRCh37]
Chr2:2q24.3 |
pathogenic |
| NM_001165963.4(SCN1A):c.4523A>G (p.Tyr1508Cys) |
single nucleotide variant |
Early infantile epileptic encephalopathy with suppression bursts [RCV002539845]|not provided [RCV001754050] |
Chr2:165996071 [GRCh38]
Chr2:166852581 [GRCh37]
Chr2:2q24.3 |
uncertain significance |
| NM_001165963.4(SCN1A):c.5972del (p.Lys1991fs) |
deletion |
not provided [RCV001773374] |
Chr2:165991303 [GRCh38]
Chr2:166847813 [GRCh37]
Chr2:2q24.3 |
uncertain significance |
| NM_001165963.4(SCN1A):c.5623G>T (p.Val1875Phe) |
single nucleotide variant |
not provided [RCV001768921] |
Chr2:165991652 [GRCh38]
Chr2:166848162 [GRCh37]
Chr2:2q24.3 |
uncertain significance |
| NM_001165963.4(SCN1A):c.4018C>G (p.Leu1340Val) |
single nucleotide variant |
not provided [RCV001774024] |
Chr2:166002738 [GRCh38]
Chr2:166859248 [GRCh37]
Chr2:2q24.3 |
uncertain significance |
| NM_001165963.4(SCN1A):c.2297T>G (p.Met766Arg) |
single nucleotide variant |
not provided [RCV001752073] |
Chr2:166041349 [GRCh38]
Chr2:166897859 [GRCh37]
Chr2:2q24.3 |
uncertain significance |
| NM_001165963.4(SCN1A):c.2378C>A (p.Thr793Lys) |
single nucleotide variant |
not provided [RCV001752195] |
Chr2:166041268 [GRCh38]
Chr2:166897778 [GRCh37]
Chr2:2q24.3 |
uncertain significance |
| NM_001165963.4(SCN1A):c.3429+108T>A |
single nucleotide variant |
not provided [RCV001733326] |
Chr2:166035940 [GRCh38]
Chr2:166892450 [GRCh37]
Chr2:2q24.3 |
benign |
| NM_001165963.4(SCN1A):c.1652C>T (p.Ser551Phe) |
single nucleotide variant |
Early infantile epileptic encephalopathy with suppression bursts [RCV003753191]|not provided [RCV001768539] |
Chr2:166045053 [GRCh38]
Chr2:166901563 [GRCh37]
Chr2:2q24.3 |
benign|uncertain significance |
| NM_001165963.4(SCN1A):c.4338+5G>C |
single nucleotide variant |
Severe myoclonic epilepsy in infancy [RCV001800261] |
Chr2:165999718 [GRCh38]
Chr2:166856228 [GRCh37]
Chr2:2q24.3 |
uncertain significance |
| NM_001165963.4(SCN1A):c.1327G>A (p.Glu443Lys) |
single nucleotide variant |
Early infantile epileptic encephalopathy with suppression bursts [RCV001882899]|not provided [RCV001756883] |
Chr2:166046820 [GRCh38]
Chr2:166903330 [GRCh37]
Chr2:2q24.3 |
uncertain significance |
| NM_001165963.4(SCN1A):c.2590C>A (p.Leu864Met) |
single nucleotide variant |
Developmental and epileptic encephalopathy 6B [RCV001775487]|Early infantile epileptic encephalopathy with suppression bursts [RCV001861132]|not provided [RCV002280189] |
Chr2:166038132 [GRCh38]
Chr2:166894642 [GRCh37]
Chr2:2q24.3 |
likely pathogenic|uncertain significance |
| NM_001165963.4(SCN1A):c.364A>G (p.Ile122Val) |
single nucleotide variant |
Early infantile epileptic encephalopathy with suppression bursts [RCV002540483]|not provided [RCV001769085] |
Chr2:166058589 [GRCh38]
Chr2:166915099 [GRCh37]
Chr2:2q24.3 |
uncertain significance |
| NM_001165963.4(SCN1A):c.1313A>G (p.Glu438Gly) |
single nucleotide variant |
Early infantile epileptic encephalopathy with suppression bursts [RCV003771992]|not provided [RCV001765721] |
Chr2:166046834 [GRCh38]
Chr2:166903344 [GRCh37]
Chr2:2q24.3 |
uncertain significance |
| NM_001165963.4(SCN1A):c.4002+2422A>G |
single nucleotide variant |
Early infantile epileptic encephalopathy with suppression bursts [RCV002074071]|not provided [RCV001779558] |
Chr2:166007297 [GRCh38]
Chr2:166863807 [GRCh37]
Chr2:2q24.3 |
benign|likely benign |
| NM_001165963.4(SCN1A):c.3404A>G (p.Glu1135Gly) |
single nucleotide variant |
not provided [RCV001816272] |
Chr2:166036073 [GRCh38]
Chr2:166892583 [GRCh37]
Chr2:2q24.3 |
uncertain significance |
| NM_001165963.4(SCN1A):c.758T>C (p.Leu253Pro) |
single nucleotide variant |
Severe myoclonic epilepsy in infancy [RCV001814639] |
Chr2:166051925 [GRCh38]
Chr2:166908435 [GRCh37]
Chr2:2q24.3 |
likely pathogenic |
| NM_001165963.4(SCN1A):c.3281A>T (p.Lys1094Ile) |
single nucleotide variant |
Generalized epilepsy with febrile seizures plus, type 2 [RCV001771806] |
Chr2:166036196 [GRCh38]
Chr2:166892706 [GRCh37]
Chr2:2q24.3 |
likely pathogenic |
| NM_001165963.4(SCN1A):c.1232C>A (p.Ser411Ter) |
single nucleotide variant |
not provided [RCV001784941] |
Chr2:166046915 [GRCh38]
Chr2:166903425 [GRCh37]
Chr2:2q24.3 |
pathogenic |
| NM_001165963.4(SCN1A):c.1171-2A>G |
single nucleotide variant |
not provided [RCV001784943] |
Chr2:166046978 [GRCh38]
Chr2:166903488 [GRCh37]
Chr2:2q24.3 |
pathogenic |
| NM_001165963.4(SCN1A):c.1712G>A (p.Arg571Lys) |
single nucleotide variant |
Early infantile epileptic encephalopathy with suppression bursts [RCV002539160]|not provided [RCV001763758] |
Chr2:166044000 [GRCh38]
Chr2:166900510 [GRCh37]
Chr2:2q24.3 |
uncertain significance |
| NM_001165963.4(SCN1A):c.4003-1G>C |
single nucleotide variant |
Generalized epilepsy with febrile seizures plus, type 2 [RCV001806318] |
Chr2:166002754 [GRCh38]
Chr2:166859264 [GRCh37]
Chr2:2q24.3 |
pathogenic |
| NM_001165963.4(SCN1A):c.3721T>C (p.Tyr1241His) |
single nucleotide variant |
Early infantile epileptic encephalopathy with suppression bursts [RCV002538758]|not provided [RCV001762972] |
Chr2:166012267 [GRCh38]
Chr2:166868777 [GRCh37]
Chr2:2q24.3 |
likely pathogenic|uncertain significance |
| NM_001165963.4(SCN1A):c.5182G>T (p.Gly1728Ter) |
single nucleotide variant |
not provided [RCV001784940] |
Chr2:165992093 [GRCh38]
Chr2:166848603 [GRCh37]
Chr2:2q24.3 |
pathogenic |
| NM_001165963.4(SCN1A):c.2045G>T (p.Gly682Val) |
single nucleotide variant |
Inborn genetic diseases [RCV002422851]|SUDDEN INFANT DEATH SYNDROME [RCV001787410] |
Chr2:166042423 [GRCh38]
Chr2:166898933 [GRCh37]
Chr2:2q24.3 |
likely pathogenic|uncertain significance |
| NM_001165963.4(SCN1A):c.875T>C (p.Ile292Thr) |
single nucleotide variant |
Early infantile epileptic encephalopathy with suppression bursts [RCV003588765]|not provided [RCV001779841] |
Chr2:166051808 [GRCh38]
Chr2:166908318 [GRCh37]
Chr2:2q24.3 |
benign|uncertain significance |
| NM_001165963.4(SCN1A):c.5249del (p.Ser1750fs) |
deletion |
Severe myoclonic epilepsy in infancy [RCV001794530] |
Chr2:165992026 [GRCh38]
Chr2:166848536 [GRCh37]
Chr2:2q24.3 |
likely pathogenic |
| NM_001165963.4(SCN1A):c.4582-2A>G |
single nucleotide variant |
Early infantile epileptic encephalopathy with suppression bursts [RCV003588768]|Severe myoclonic epilepsy in infancy [RCV001794532] |
Chr2:165994418 [GRCh38]
Chr2:166850928 [GRCh37]
Chr2:2q24.3 |
pathogenic|likely pathogenic |
| NM_001165963.4(SCN1A):c.1707T>G (p.Asn569Lys) |
single nucleotide variant |
not provided [RCV001757172] |
Chr2:166044005 [GRCh38]
Chr2:166900515 [GRCh37]
Chr2:2q24.3 |
uncertain significance |
| NM_001165963.4(SCN1A):c.3551-12_3551-11delinsGC |
indel |
not provided [RCV001763017] |
Chr2:166013909..166013910 [GRCh38]
Chr2:166870419..166870420 [GRCh37]
Chr2:2q24.3 |
uncertain significance |
| NM_001165963.4(SCN1A):c.5389G>A (p.Ala1797Thr) |
single nucleotide variant |
not provided [RCV001815891] |
Chr2:165991886 [GRCh38]
Chr2:166848396 [GRCh37]
Chr2:2q24.3 |
uncertain significance |
| NM_001165963.4(SCN1A):c.3646_3659del (p.Val1215_Glu1216insTer) |
deletion |
not provided [RCV001815892] |
Chr2:166013790..166013803 [GRCh38]
Chr2:166870300..166870313 [GRCh37]
Chr2:2q24.3 |
pathogenic |
| NM_001165963.4(SCN1A):c.3508G>A (p.Glu1170Lys) |
single nucleotide variant |
not provided [RCV001815893] |
Chr2:166015649 [GRCh38]
Chr2:166872159 [GRCh37]
Chr2:2q24.3 |
uncertain significance |
| NM_001165963.4(SCN1A):c.1325C>G (p.Ala442Gly) |
single nucleotide variant |
not provided [RCV001758539] |
Chr2:166046822 [GRCh38]
Chr2:166903332 [GRCh37]
Chr2:2q24.3 |
uncertain significance |
| NM_001165963.4(SCN1A):c.1396G>C (p.Ala466Pro) |
single nucleotide variant |
not provided [RCV001758639] |
Chr2:166045309 [GRCh38]
Chr2:166901819 [GRCh37]
Chr2:2q24.3 |
uncertain significance |
| NM_001165963.4(SCN1A):c.2767A>G (p.Ile923Val) |
single nucleotide variant |
not provided [RCV001763578] |
Chr2:166037955 [GRCh38]
Chr2:166894465 [GRCh37]
Chr2:2q24.3 |
uncertain significance |
| NM_001165963.4(SCN1A):c.1571A>T (p.Glu524Val) |
single nucleotide variant |
not provided [RCV001758389] |
Chr2:166045134 [GRCh38]
Chr2:166901644 [GRCh37]
Chr2:2q24.3 |
uncertain significance |
| NM_001165963.4(SCN1A):c.86T>C (p.Ile29Thr) |
single nucleotide variant |
Early infantile epileptic encephalopathy with suppression bursts [RCV002540404]|not provided [RCV001760997] |
Chr2:166073536 [GRCh38]
Chr2:166930046 [GRCh37]
Chr2:2q24.3 |
uncertain significance |
| NM_001165963.4(SCN1A):c.5205C>T (p.Asn1735=) |
single nucleotide variant |
Early infantile epileptic encephalopathy with suppression bursts [RCV002541065]|not provided [RCV001776636] |
Chr2:165992070 [GRCh38]
Chr2:166848580 [GRCh37]
Chr2:2q24.3 |
likely benign |
| NM_001165963.4(SCN1A):c.807C>A (p.Phe269Leu) |
single nucleotide variant |
Early infantile epileptic encephalopathy with suppression bursts [RCV002034533]|Generalized epilepsy with febrile seizures plus, type 2 [RCV001779369] |
Chr2:166051876 [GRCh38]
Chr2:166908386 [GRCh37]
Chr2:2q24.3 |
pathogenic|uncertain significance |
| NM_001165963.4(SCN1A):c.5801C>T (p.Thr1934Ile) |
single nucleotide variant |
Early infantile epileptic encephalopathy with suppression bursts [RCV001868471]|not provided [RCV001758368] |
Chr2:165991474 [GRCh38]
Chr2:166847984 [GRCh37]
Chr2:2q24.3 |
uncertain significance |
| NM_001165963.4(SCN1A):c.3715G>C (p.Asp1239His) |
single nucleotide variant |
not provided [RCV001758406] |
Chr2:166012273 [GRCh38]
Chr2:166868783 [GRCh37]
Chr2:2q24.3 |
likely pathogenic|uncertain significance |
| NM_001165963.4(SCN1A):c.6G>C (p.Glu2Asp) |
single nucleotide variant |
not provided [RCV001806592] |
Chr2:166073616 [GRCh38]
Chr2:166930126 [GRCh37]
Chr2:2q24.3 |
uncertain significance |
| NM_001165963.4(SCN1A):c.1700G>C (p.Arg567Thr) |
single nucleotide variant |
Developmental and epileptic encephalopathy 6B [RCV001815057] |
Chr2:166044012 [GRCh38]
Chr2:166900522 [GRCh37]
Chr2:2q24.3 |
uncertain significance |
| NM_001165963.4(SCN1A):c.802C>T (p.Leu268=) |
single nucleotide variant |
Early infantile epileptic encephalopathy with suppression bursts [RCV003753205]|not provided [RCV001816273] |
Chr2:166051881 [GRCh38]
Chr2:166908391 [GRCh37]
Chr2:2q24.3 |
likely benign|uncertain significance |
| NM_001165963.4(SCN1A):c.3538T>C (p.Cys1180Arg) |
single nucleotide variant |
not provided [RCV001822144] |
Chr2:166015619 [GRCh38]
Chr2:166872129 [GRCh37]
Chr2:2q24.3 |
likely pathogenic |
| NM_001165963.4(SCN1A):c.5148C>A (p.Cys1716Ter) |
single nucleotide variant |
Focal-onset seizure [RCV001814638] |
Chr2:165992127 [GRCh38]
Chr2:166848637 [GRCh37]
Chr2:2q24.3 |
pathogenic |
| NM_001165963.4(SCN1A):c.3952C>G (p.Leu1318Val) |
single nucleotide variant |
Early infantile epileptic encephalopathy with suppression bursts [RCV001889064] |
Chr2:166009769 [GRCh38]
Chr2:166866279 [GRCh37]
Chr2:2q24.3 |
uncertain significance |
| NM_001165963.4(SCN1A):c.5494G>T (p.Ala1832Ser) |
single nucleotide variant |
Early infantile epileptic encephalopathy with suppression bursts [RCV002024991] |
Chr2:165991781 [GRCh38]
Chr2:166848291 [GRCh37]
Chr2:2q24.3 |
uncertain significance |
| NM_001165963.4(SCN1A):c.2516T>C (p.Ile839Thr) |
single nucleotide variant |
Early infantile epileptic encephalopathy with suppression bursts [RCV001971204]|Generalized epilepsy with febrile seizures plus, type 2 [RCV003147718] |
Chr2:166039496 [GRCh38]
Chr2:166896006 [GRCh37]
Chr2:2q24.3 |
likely pathogenic|uncertain significance |
| NM_001165963.4(SCN1A):c.2863A>T (p.Thr955Ser) |
single nucleotide variant |
Early infantile epileptic encephalopathy with suppression bursts [RCV002008496] |
Chr2:166037859 [GRCh38]
Chr2:166894369 [GRCh37]
Chr2:2q24.3 |
likely pathogenic|uncertain significance |
| NM_001165963.4(SCN1A):c.4651A>C (p.Ile1551Leu) |
single nucleotide variant |
Early infantile epileptic encephalopathy with suppression bursts [RCV002045288] |
Chr2:165994347 [GRCh38]
Chr2:166850857 [GRCh37]
Chr2:2q24.3 |
uncertain significance |
| NM_001165963.4(SCN1A):c.740T>C (p.Leu247Pro) |
single nucleotide variant |
Early infantile epileptic encephalopathy with suppression bursts [RCV001950364] |
Chr2:166051943 [GRCh38]
Chr2:166908453 [GRCh37]
Chr2:2q24.3 |
pathogenic |
| NM_001165963.4(SCN1A):c.1982C>T (p.Thr661Ile) |
single nucleotide variant |
Developmental and epileptic encephalopathy 6B [RCV003126073]|Early infantile epileptic encephalopathy with suppression bursts [RCV002003817] |
Chr2:166043730 [GRCh38]
Chr2:166900240 [GRCh37]
Chr2:2q24.3 |
likely benign|uncertain significance |
| NM_001165963.4(SCN1A):c.4247A>G (p.Asp1416Gly) |
single nucleotide variant |
Early infantile epileptic encephalopathy with suppression bursts [RCV001946710] |
Chr2:166002509 [GRCh38]
Chr2:166859019 [GRCh37]
Chr2:2q24.3 |
pathogenic |
| NM_001165963.4(SCN1A):c.5371_5372del (p.Val1791fs) |
microsatellite |
Early infantile epileptic encephalopathy with suppression bursts [RCV001987646] |
Chr2:165991903..165991904 [GRCh38]
Chr2:166848413..166848414 [GRCh37]
Chr2:2q24.3 |
pathogenic |
| NM_001165963.4(SCN1A):c.5422_5430del (p.Phe1808_Glu1810del) |
deletion |
Early infantile epileptic encephalopathy with suppression bursts [RCV002008502] |
Chr2:165991845..165991853 [GRCh38]
Chr2:166848355..166848363 [GRCh37]
Chr2:2q24.3 |
likely pathogenic |
| NM_001165963.4(SCN1A):c.2542G>T (p.Gly848Ter) |
single nucleotide variant |
Generalized epilepsy with febrile seizures plus, type 2 [RCV001836684] |
Chr2:166039470 [GRCh38]
Chr2:166895980 [GRCh37]
Chr2:2q24.3 |
likely pathogenic |
| NM_001165963.4(SCN1A):c.5354T>C (p.Ile1785Thr) |
single nucleotide variant |
Generalized epilepsy with febrile seizures plus, type 2 [RCV001823482] |
Chr2:165991921 [GRCh38]
Chr2:166848431 [GRCh37]
Chr2:2q24.3 |
uncertain significance |
| NM_001165963.4(SCN1A):c.4002+2161A>G |
single nucleotide variant |
Early infantile epileptic encephalopathy with suppression bursts [RCV001896206] |
Chr2:166007558 [GRCh38]
Chr2:166864068 [GRCh37]
Chr2:2q24.3 |
likely benign|uncertain significance |
| NM_001165963.4(SCN1A):c.4674G>T (p.Met1558Ile) |
single nucleotide variant |
Early infantile epileptic encephalopathy with suppression bursts [RCV001864119] |
Chr2:165994324 [GRCh38]
Chr2:166850834 [GRCh37]
Chr2:2q24.3 |
uncertain significance |
| NM_001165963.4(SCN1A):c.4424T>G (p.Leu1475Trp) |
single nucleotide variant |
Early infantile epileptic encephalopathy with suppression bursts [RCV002025733] |
Chr2:165998090 [GRCh38]
Chr2:166854600 [GRCh37]
Chr2:2q24.3 |
uncertain significance |
| NM_001165963.4(SCN1A):c.1018T>C (p.Ser340Pro) |
single nucleotide variant |
Early infantile epileptic encephalopathy with suppression bursts [RCV001896567] |
Chr2:166048896 [GRCh38]
Chr2:166905406 [GRCh37]
Chr2:2q24.3 |
pathogenic|uncertain significance |
| NM_001165963.4(SCN1A):c.2839G>C (p.Val947Leu) |
single nucleotide variant |
Generalized epilepsy with febrile seizures plus, type 2 [RCV001823552] |
Chr2:166037883 [GRCh38]
Chr2:166894393 [GRCh37]
Chr2:2q24.3 |
uncertain significance |
| NM_001165963.4(SCN1A):c.5675G>T (p.Arg1892Leu) |
single nucleotide variant |
Early infantile epileptic encephalopathy with suppression bursts [RCV001971255] |
Chr2:165991600 [GRCh38]
Chr2:166848110 [GRCh37]
Chr2:2q24.3 |
uncertain significance |
| NM_001165963.4(SCN1A):c.3670A>G (p.Ile1224Val) |
single nucleotide variant |
Early infantile epileptic encephalopathy with suppression bursts [RCV001915567] |
Chr2:166013779 [GRCh38]
Chr2:166870289 [GRCh37]
Chr2:2q24.3 |
uncertain significance |
| NM_001165963.4(SCN1A):c.2787_2794del (p.Pro930fs) |
deletion |
Early infantile epileptic encephalopathy with suppression bursts [RCV001970083] |
Chr2:166037928..166037935 [GRCh38]
Chr2:166894438..166894445 [GRCh37]
Chr2:2q24.3 |
pathogenic |
| NM_001165963.4(SCN1A):c.2784A>C (p.Gln928His) |
single nucleotide variant |
Early infantile epileptic encephalopathy with suppression bursts [RCV002044179] |
Chr2:166037938 [GRCh38]
Chr2:166894448 [GRCh37]
Chr2:2q24.3 |
uncertain significance |
| NM_001165963.4(SCN1A):c.4793A>G (p.Tyr1598Cys) |
single nucleotide variant |
Early infantile epileptic encephalopathy with suppression bursts [RCV002024807] |
Chr2:165994205 [GRCh38]
Chr2:166850715 [GRCh37]
Chr2:2q24.3 |
uncertain significance |
| NM_001165963.4(SCN1A):c.4690G>A (p.Asp1564Asn) |
single nucleotide variant |
Early infantile epileptic encephalopathy with suppression bursts [RCV002043407] |
Chr2:165994308 [GRCh38]
Chr2:166850818 [GRCh37]
Chr2:2q24.3 |
uncertain significance |
| NM_001165963.4(SCN1A):c.5302A>G (p.Ser1768Gly) |
single nucleotide variant |
Early infantile epileptic encephalopathy with suppression bursts [RCV002002485] |
Chr2:165991973 [GRCh38]
Chr2:166848483 [GRCh37]
Chr2:2q24.3 |
pathogenic |
| NM_001165963.4(SCN1A):c.2641A>G (p.Lys881Glu) |
single nucleotide variant |
Early infantile epileptic encephalopathy with suppression bursts [RCV001894212] |
Chr2:166038081 [GRCh38]
Chr2:166894591 [GRCh37]
Chr2:2q24.3 |
uncertain significance |
| NM_001165963.4(SCN1A):c.5371G>T (p.Val1791Phe) |
single nucleotide variant |
Early infantile epileptic encephalopathy with suppression bursts [RCV001928362] |
Chr2:165991904 [GRCh38]
Chr2:166848414 [GRCh37]
Chr2:2q24.3 |
uncertain significance |
| NM_001165963.4(SCN1A):c.5731A>G (p.Lys1911Glu) |
single nucleotide variant |
Early infantile epileptic encephalopathy with suppression bursts [RCV002044797] |
Chr2:165991544 [GRCh38]
Chr2:166848054 [GRCh37]
Chr2:2q24.3 |
uncertain significance |
| NM_001165963.4(SCN1A):c.5236G>C (p.Val1746Leu) |
single nucleotide variant |
Early infantile epileptic encephalopathy with suppression bursts [RCV002044256] |
Chr2:165992039 [GRCh38]
Chr2:166848549 [GRCh37]
Chr2:2q24.3 |
uncertain significance |
| NM_001165963.4(SCN1A):c.4926G>C (p.Arg1642Ser) |
single nucleotide variant |
Early infantile epileptic encephalopathy with suppression bursts [RCV001949274] |
Chr2:165992349 [GRCh38]
Chr2:166848859 [GRCh37]
Chr2:2q24.3 |
pathogenic |
| NM_001165963.4(SCN1A):c.1531G>C (p.Gly511Arg) |
single nucleotide variant |
Early infantile epileptic encephalopathy with suppression bursts [RCV001863868] |
Chr2:166045174 [GRCh38]
Chr2:166901684 [GRCh37]
Chr2:2q24.3 |
uncertain significance |
| NM_001165963.4(SCN1A):c.4752_4753del (p.Thr1585fs) |
deletion |
Severe myoclonic epilepsy in infancy [RCV002052236] |
Chr2:165994245..165994246 [GRCh38]
Chr2:166850755..166850756 [GRCh37]
Chr2:2q24.3 |
likely pathogenic |
| NM_001165963.4(SCN1A):c.5045del (p.Phe1682fs) |
deletion |
Early infantile epileptic encephalopathy with suppression bursts [RCV001949961] |
Chr2:165992230 [GRCh38]
Chr2:166848740 [GRCh37]
Chr2:2q24.3 |
pathogenic |
| NM_001165963.4(SCN1A):c.5062G>A (p.Gly1688Arg) |
single nucleotide variant |
Early infantile epileptic encephalopathy with suppression bursts [RCV001988547]|not provided [RCV003136419] |
Chr2:165992213 [GRCh38]
Chr2:166848723 [GRCh37]
Chr2:2q24.3 |
pathogenic|uncertain significance |
| NM_001165963.4(SCN1A):c.3407C>T (p.Ser1136Leu) |
single nucleotide variant |
Early infantile epileptic encephalopathy with suppression bursts [RCV001896802]|not provided [RCV002221690] |
Chr2:166036070 [GRCh38]
Chr2:166892580 [GRCh37]
Chr2:2q24.3 |
uncertain significance |
| NM_001165963.4(SCN1A):c.5138G>T (p.Ser1713Ile) |
single nucleotide variant |
Early infantile epileptic encephalopathy with suppression bursts [RCV001910777] |
Chr2:165992137 [GRCh38]
Chr2:166848647 [GRCh37]
Chr2:2q24.3 |
pathogenic|uncertain significance |
| NM_001165963.4(SCN1A):c.4972A>T (p.Thr1658Ser) |
single nucleotide variant |
Early infantile epileptic encephalopathy with suppression bursts [RCV001971003] |
Chr2:165992303 [GRCh38]
Chr2:166848813 [GRCh37]
Chr2:2q24.3 |
likely pathogenic |
| NM_001165963.4(SCN1A):c.2061_2062del (p.Glu688fs) |
deletion |
Early infantile epileptic encephalopathy with suppression bursts [RCV001914798] |
Chr2:166042406..166042407 [GRCh38]
Chr2:166898916..166898917 [GRCh37]
Chr2:2q24.3 |
pathogenic |
| NM_001165963.4(SCN1A):c.3874G>C (p.Val1292Leu) |
single nucleotide variant |
Early infantile epileptic encephalopathy with suppression bursts [RCV001864245] |
Chr2:166012114 [GRCh38]
Chr2:166868624 [GRCh37]
Chr2:2q24.3 |
pathogenic |
| NM_001165963.4(SCN1A):c.4994T>C (p.Met1665Thr) |
single nucleotide variant |
Early infantile epileptic encephalopathy with suppression bursts [RCV001971669] |
Chr2:165992281 [GRCh38]
Chr2:166848791 [GRCh37]
Chr2:2q24.3 |
uncertain significance |
| NM_001165963.4(SCN1A):c.2102T>G (p.Met701Arg) |
single nucleotide variant |
Early infantile epileptic encephalopathy with suppression bursts [RCV001986766] |
Chr2:166042366 [GRCh38]
Chr2:166898876 [GRCh37]
Chr2:2q24.3 |
uncertain significance |
| NM_001165963.4(SCN1A):c.3309G>A (p.Met1103Ile) |
single nucleotide variant |
Early infantile epileptic encephalopathy with suppression bursts [RCV001914257] |
Chr2:166036168 [GRCh38]
Chr2:166892678 [GRCh37]
Chr2:2q24.3 |
uncertain significance |
| NM_001165963.4(SCN1A):c.1181C>T (p.Ala394Val) |
single nucleotide variant |
Early infantile epileptic encephalopathy with suppression bursts [RCV001971010]|not provided [RCV003312031] |
Chr2:166046966 [GRCh38]
Chr2:166903476 [GRCh37]
Chr2:2q24.3 |
likely pathogenic|uncertain significance |
| NM_001165963.4(SCN1A):c.5374G>A (p.Ala1792Thr) |
single nucleotide variant |
Early infantile epileptic encephalopathy with suppression bursts [RCV001949456] |
Chr2:165991901 [GRCh38]
Chr2:166848411 [GRCh37]
Chr2:2q24.3 |
pathogenic |
| NM_001165963.4(SCN1A):c.859T>G (p.Leu287Val) |
single nucleotide variant |
Early infantile epileptic encephalopathy with suppression bursts [RCV001915320]|not provided [RCV002284500] |
Chr2:166051824 [GRCh38]
Chr2:166908334 [GRCh37]
Chr2:2q24.3 |
benign|uncertain significance |
| NM_001165963.4(SCN1A):c.3124C>T (p.Gln1042Ter) |
single nucleotide variant |
Early infantile epileptic encephalopathy with suppression bursts [RCV001985326]|Severe myoclonic epilepsy in infancy [RCV003228035] |
Chr2:166036353 [GRCh38]
Chr2:166892863 [GRCh37]
Chr2:2q24.3 |
pathogenic |
| NM_001165963.4(SCN1A):c.1961T>C (p.Val654Ala) |
single nucleotide variant |
Early infantile epileptic encephalopathy with suppression bursts [RCV001965996] |
Chr2:166043751 [GRCh38]
Chr2:166900261 [GRCh37]
Chr2:2q24.3 |
uncertain significance |
| NM_001165963.4(SCN1A):c.4780T>C (p.Ser1594Pro) |
single nucleotide variant |
Early infantile epileptic encephalopathy with suppression bursts [RCV002023097] |
Chr2:165994218 [GRCh38]
Chr2:166850728 [GRCh37]
Chr2:2q24.3 |
likely pathogenic |
| NM_001165963.4(SCN1A):c.1825T>C (p.Phe609Leu) |
single nucleotide variant |
Early infantile epileptic encephalopathy with suppression bursts [RCV001890988] |
Chr2:166043887 [GRCh38]
Chr2:166900397 [GRCh37]
Chr2:2q24.3 |
uncertain significance |
| NM_001165963.4(SCN1A):c.2110C>G (p.Leu704Val) |
single nucleotide variant |
Early infantile epileptic encephalopathy with suppression bursts [RCV001966163] |
Chr2:166042358 [GRCh38]
Chr2:166898868 [GRCh37]
Chr2:2q24.3 |
uncertain significance |
| GRCh37/hg19 2q24.2-24.3(chr2:163168812-167567296) |
copy number gain |
not specified [RCV002053259] |
Chr2:163168812..167567296 [GRCh37]
Chr2:2q24.2-24.3 |
pathogenic |
| GRCh37/hg19 2q24.3(chr2:165428510-166888012) |
copy number loss |
not specified [RCV002053261] |
Chr2:165428510..166888012 [GRCh37]
Chr2:2q24.3 |
pathogenic |
| NM_001165963.4(SCN1A):c.1786A>G (p.Ser596Gly) |
single nucleotide variant |
Early infantile epileptic encephalopathy with suppression bursts [RCV001909667] |
Chr2:166043926 [GRCh38]
Chr2:166900436 [GRCh37]
Chr2:2q24.3 |
likely pathogenic|uncertain significance |
| NM_001165963.4(SCN1A):c.1808G>A (p.Ser603Asn) |
single nucleotide variant |
Early infantile epileptic encephalopathy with suppression bursts [RCV001985801] |
Chr2:166043904 [GRCh38]
Chr2:166900414 [GRCh37]
Chr2:2q24.3 |
uncertain significance |
| NM_001165963.4(SCN1A):c.751A>G (p.Met251Val) |
single nucleotide variant |
Generalized epilepsy with febrile seizures plus, type 2 [RCV001823483] |
Chr2:166051932 [GRCh38]
Chr2:166908442 [GRCh37]
Chr2:2q24.3 |
uncertain significance |
| NM_001165963.4(SCN1A):c.5834A>G (p.Asn1945Ser) |
single nucleotide variant |
Early infantile epileptic encephalopathy with suppression bursts [RCV001909956] |
Chr2:165991441 [GRCh38]
Chr2:166847951 [GRCh37]
Chr2:2q24.3 |
uncertain significance |
| NM_001165963.4(SCN1A):c.3139G>T (p.Glu1047Ter) |
single nucleotide variant |
Early infantile epileptic encephalopathy with suppression bursts [RCV001985320] |
Chr2:166036338 [GRCh38]
Chr2:166892848 [GRCh37]
Chr2:2q24.3 |
pathogenic |
| NM_001165963.4(SCN1A):c.4073G>T (p.Trp1358Leu) |
single nucleotide variant |
Early infantile epileptic encephalopathy with suppression bursts [RCV001927510] |
Chr2:166002683 [GRCh38]
Chr2:166859193 [GRCh37]
Chr2:2q24.3 |
pathogenic |
| NM_001165963.4(SCN1A):c.475T>C (p.Tyr159His) |
single nucleotide variant |
not provided [RCV001843886] |
Chr2:166054765 [GRCh38]
Chr2:166911275 [GRCh37]
Chr2:2q24.3 |
uncertain significance |
| NM_001165963.4(SCN1A):c.3568A>C (p.Lys1190Gln) |
single nucleotide variant |
Early infantile epileptic encephalopathy with suppression bursts [RCV002041974] |
Chr2:166013881 [GRCh38]
Chr2:166870391 [GRCh37]
Chr2:2q24.3 |
uncertain significance |
| NM_001165963.4(SCN1A):c.603-17_603-15del |
deletion |
Early infantile epileptic encephalopathy with suppression bursts [RCV001965557] |
Chr2:166052958..166052960 [GRCh38]
Chr2:166909468..166909470 [GRCh37]
Chr2:2q24.3 |
uncertain significance |
| NM_001165963.4(SCN1A):c.2230A>G (p.Ile744Val) |
single nucleotide variant |
Early infantile epileptic encephalopathy with suppression bursts [RCV002041463] |
Chr2:166041416 [GRCh38]
Chr2:166897926 [GRCh37]
Chr2:2q24.3 |
uncertain significance |
| NM_001165963.4(SCN1A):c.4441_4442del (p.Val1481fs) |
microsatellite |
Early infantile epileptic encephalopathy with suppression bursts [RCV001891817] |
Chr2:165998072..165998073 [GRCh38]
Chr2:166854582..166854583 [GRCh37]
Chr2:2q24.3 |
pathogenic |
| NM_001165963.4(SCN1A):c.2215T>C (p.Tyr739His) |
single nucleotide variant |
Early infantile epileptic encephalopathy with suppression bursts [RCV001964527] |
Chr2:166041431 [GRCh38]
Chr2:166897941 [GRCh37]
Chr2:2q24.3 |
uncertain significance |
| NM_001165963.4(SCN1A):c.550A>T (p.Thr184Ser) |
single nucleotide variant |
Severe myoclonic epilepsy in infancy [RCV001823502]|not provided [RCV002223314] |
Chr2:166054690 [GRCh38]
Chr2:166911200 [GRCh37]
Chr2:2q24.3 |
uncertain significance |
| NM_001165963.4(SCN1A):c.5136C>G (p.Asn1712Lys) |
single nucleotide variant |
Early infantile epileptic encephalopathy with suppression bursts [RCV001966791] |
Chr2:165992139 [GRCh38]
Chr2:166848649 [GRCh37]
Chr2:2q24.3 |
likely pathogenic |
| NM_001165963.4(SCN1A):c.1805A>G (p.Glu602Gly) |
single nucleotide variant |
Early infantile epileptic encephalopathy with suppression bursts [RCV001912153] |
Chr2:166043907 [GRCh38]
Chr2:166900417 [GRCh37]
Chr2:2q24.3 |
uncertain significance |
| NM_001165963.4(SCN1A):c.4863T>A (p.Leu1621=) |
single nucleotide variant |
Early infantile epileptic encephalopathy with suppression bursts [RCV001984022] |
Chr2:165992412 [GRCh38]
Chr2:166848922 [GRCh37]
Chr2:2q24.3 |
likely benign|uncertain significance |
| NM_001165963.4(SCN1A):c.2043T>C (p.Asn681=) |
single nucleotide variant |
Early infantile epileptic encephalopathy with suppression bursts [RCV002041082] |
Chr2:166043669 [GRCh38]
Chr2:166900179 [GRCh37]
Chr2:2q24.3 |
uncertain significance |
| NM_001165963.4(SCN1A):c.4724G>C (p.Arg1575Pro) |
single nucleotide variant |
Early infantile epileptic encephalopathy with suppression bursts [RCV002021256] |
Chr2:165994274 [GRCh38]
Chr2:166850784 [GRCh37]
Chr2:2q24.3 |
uncertain significance |
| NM_001165963.4(SCN1A):c.5851G>C (p.Ala1951Pro) |
single nucleotide variant |
Developmental and epileptic encephalopathy 6B [RCV003225760]|Early infantile epileptic encephalopathy with suppression bursts [RCV002041166] |
Chr2:165991424 [GRCh38]
Chr2:166847934 [GRCh37]
Chr2:2q24.3 |
uncertain significance |
| NM_001165963.4(SCN1A):c.3423C>T (p.Ser1141=) |
single nucleotide variant |
Early infantile epileptic encephalopathy with suppression bursts [RCV001910887] |
Chr2:166036054 [GRCh38]
Chr2:166892564 [GRCh37]
Chr2:2q24.3 |
likely benign|uncertain significance |
| NM_001165963.4(SCN1A):c.4680G>A (p.Val1560=) |
single nucleotide variant |
Early infantile epileptic encephalopathy with suppression bursts [RCV001911052] |
Chr2:165994318 [GRCh38]
Chr2:166850828 [GRCh37]
Chr2:2q24.3 |
likely benign|uncertain significance |
| NM_001165963.4(SCN1A):c.4852G>A (p.Gly1618Ser) |
single nucleotide variant |
Severe myoclonic epilepsy in infancy [RCV001837541] |
Chr2:165994146 [GRCh38]
Chr2:166850656 [GRCh37]
Chr2:2q24.3 |
likely pathogenic |
| NM_001165963.4(SCN1A):c.5315_5316insC (p.Ser1773fs) |
insertion |
Early infantile epileptic encephalopathy with suppression bursts [RCV002007470] |
Chr2:165991959..165991960 [GRCh38]
Chr2:166848469..166848470 [GRCh37]
Chr2:2q24.3 |
pathogenic |
| NM_001165963.4(SCN1A):c.1511G>T (p.Arg504Ile) |
single nucleotide variant |
Early infantile epileptic encephalopathy with suppression bursts [RCV002024606] |
Chr2:166045194 [GRCh38]
Chr2:166901704 [GRCh37]
Chr2:2q24.3 |
uncertain significance |
| NM_001165963.4(SCN1A):c.1393A>G (p.Thr465Ala) |
single nucleotide variant |
Early infantile epileptic encephalopathy with suppression bursts [RCV002039737] |
Chr2:166045312 [GRCh38]
Chr2:166901822 [GRCh37]
Chr2:2q24.3 |
uncertain significance |
| NM_001165963.4(SCN1A):c.3803T>G (p.Leu1268Arg) |
single nucleotide variant |
Early infantile epileptic encephalopathy with suppression bursts [RCV001891058] |
Chr2:166012185 [GRCh38]
Chr2:166868695 [GRCh37]
Chr2:2q24.3 |
pathogenic|uncertain significance |
| NM_001165963.4(SCN1A):c.4073G>A (p.Trp1358Ter) |
single nucleotide variant |
Early infantile epileptic encephalopathy with suppression bursts [RCV001949459]|See cases [RCV002252740] |
Chr2:166002683 [GRCh38]
Chr2:166859193 [GRCh37]
Chr2:2q24.3 |
pathogenic|likely pathogenic |
| NM_001165963.4(SCN1A):c.1849A>G (p.Arg617Gly) |
single nucleotide variant |
Early infantile epileptic encephalopathy with suppression bursts [RCV001985935]|not provided [RCV003120792] |
Chr2:166043863 [GRCh38]
Chr2:166900373 [GRCh37]
Chr2:2q24.3 |
uncertain significance |
| NM_001165963.4(SCN1A):c.3914G>T (p.Gly1305Val) |
single nucleotide variant |
Early infantile epileptic encephalopathy with suppression bursts [RCV001983330]|not provided [RCV003136381] |
Chr2:166009807 [GRCh38]
Chr2:166866317 [GRCh37]
Chr2:2q24.3 |
uncertain significance |
| NM_001165963.4(SCN1A):c.4055T>A (p.Leu1352Gln) |
single nucleotide variant |
Early infantile epileptic encephalopathy with suppression bursts [RCV002003918]|Generalized epilepsy with febrile seizures plus, type 2 [RCV002246642] |
Chr2:166002701 [GRCh38]
Chr2:166859211 [GRCh37]
Chr2:2q24.3 |
pathogenic|uncertain significance |
| NM_001165963.4(SCN1A):c.5019C>A (p.Ile1673=) |
single nucleotide variant |
Early infantile epileptic encephalopathy with suppression bursts [RCV001928561] |
Chr2:165992256 [GRCh38]
Chr2:166848766 [GRCh37]
Chr2:2q24.3 |
likely benign|uncertain significance |
| NM_001165963.4(SCN1A):c.4474A>G (p.Lys1492Glu) |
single nucleotide variant |
Early infantile epileptic encephalopathy with suppression bursts [RCV001870741] |
Chr2:165998040 [GRCh38]
Chr2:166854550 [GRCh37]
Chr2:2q24.3 |
uncertain significance |
| NM_001165963.4(SCN1A):c.245C>T (p.Pro82Leu) |
single nucleotide variant |
Early infantile epileptic encephalopathy with suppression bursts [RCV001893008] |
Chr2:166073377 [GRCh38]
Chr2:166929887 [GRCh37]
Chr2:2q24.3 |
uncertain significance |
| NM_001165963.4(SCN1A):c.967T>A (p.Tyr323Asn) |
single nucleotide variant |
Early infantile epileptic encephalopathy with suppression bursts [RCV001948779] |
Chr2:166048947 [GRCh38]
Chr2:166905457 [GRCh37]
Chr2:2q24.3 |
uncertain significance |
| NM_001165963.4(SCN1A):c.125A>C (p.Lys42Thr) |
single nucleotide variant |
Early infantile epileptic encephalopathy with suppression bursts [RCV001895339] |
Chr2:166073497 [GRCh38]
Chr2:166930007 [GRCh37]
Chr2:2q24.3 |
uncertain significance |
| NM_001165963.4(SCN1A):c.1745dup (p.Asp583fs) |
duplication |
Early infantile epileptic encephalopathy with suppression bursts [RCV001910963] |
Chr2:166043966..166043967 [GRCh38]
Chr2:166900476..166900477 [GRCh37]
Chr2:2q24.3 |
pathogenic |
| NM_001165963.4(SCN1A):c.1133T>A (p.Leu378Gln) |
single nucleotide variant |
Early infantile epileptic encephalopathy with suppression bursts [RCV002043145]|not provided [RCV002511127] |
Chr2:166047664 [GRCh38]
Chr2:166904174 [GRCh37]
Chr2:2q24.3 |
likely pathogenic |
| NM_001165963.4(SCN1A):c.517dup (p.Ile173fs) |
duplication |
Early infantile epileptic encephalopathy with suppression bursts [RCV002007618] |
Chr2:166054722..166054723 [GRCh38]
Chr2:166911232..166911233 [GRCh37]
Chr2:2q24.3 |
pathogenic |
| NM_001165963.4(SCN1A):c.809T>C (p.Met270Thr) |
single nucleotide variant |
Early infantile epileptic encephalopathy with suppression bursts [RCV001889282] |
Chr2:166051874 [GRCh38]
Chr2:166908384 [GRCh37]
Chr2:2q24.3 |
uncertain significance |
| NM_001165963.4(SCN1A):c.1573T>A (p.Ser525Thr) |
single nucleotide variant |
Early infantile epileptic encephalopathy with suppression bursts [RCV001889585] |
Chr2:166045132 [GRCh38]
Chr2:166901642 [GRCh37]
Chr2:2q24.3 |
uncertain significance |
| NM_001165963.4(SCN1A):c.2278G>T (p.Val760Phe) |
single nucleotide variant |
Early infantile epileptic encephalopathy with suppression bursts [RCV001969962] |
Chr2:166041368 [GRCh38]
Chr2:166897878 [GRCh37]
Chr2:2q24.3 |
uncertain significance |
| NM_001165963.4(SCN1A):c.5600T>A (p.Ile1867Asn) |
single nucleotide variant |
not provided [RCV001847431] |
Chr2:165991675 [GRCh38]
Chr2:166848185 [GRCh37]
Chr2:2q24.3 |
likely pathogenic |
| NM_001165963.4(SCN1A):c.264+20C>T |
single nucleotide variant |
Early infantile epileptic encephalopathy with suppression bursts [RCV001948939] |
Chr2:166073338 [GRCh38]
Chr2:166929848 [GRCh37]
Chr2:2q24.3 |
likely benign|uncertain significance |
| NM_001165963.4(SCN1A):c.5462A>C (p.Gln1821Pro) |
single nucleotide variant |
SCN1A-related channelopathy [RCV001822989] |
Chr2:165991813 [GRCh38]
Chr2:166848323 [GRCh37]
Chr2:2q24.3 |
likely pathogenic |
| NM_001165963.4(SCN1A):c.3889dup (p.Val1297fs) |
duplication |
Severe myoclonic epilepsy in infancy [RCV001823029] |
Chr2:166009831..166009832 [GRCh38]
Chr2:166866341..166866342 [GRCh37]
Chr2:2q24.3 |
likely pathogenic |
| NM_001165963.4(SCN1A):c.5029C>T (p.Leu1677Phe) |
single nucleotide variant |
Early infantile epileptic encephalopathy with suppression bursts [RCV002008007] |
Chr2:165992246 [GRCh38]
Chr2:166848756 [GRCh37]
Chr2:2q24.3 |
pathogenic|likely pathogenic |
| NM_001165963.4(SCN1A):c.4363G>C (p.Glu1455Gln) |
single nucleotide variant |
Early infantile epileptic encephalopathy with suppression bursts [RCV001964950] |
Chr2:165998151 [GRCh38]
Chr2:166854661 [GRCh37]
Chr2:2q24.3 |
uncertain significance |
| NM_001165963.4(SCN1A):c.230T>C (p.Leu77Pro) |
single nucleotide variant |
Early infantile epileptic encephalopathy with suppression bursts [RCV001870771]|Inborn genetic diseases [RCV002449505] |
Chr2:166073392 [GRCh38]
Chr2:166929902 [GRCh37]
Chr2:2q24.3 |
pathogenic|likely pathogenic |
| NM_001165963.4(SCN1A):c.2262G>C (p.Trp754Cys) |
single nucleotide variant |
Early infantile epileptic encephalopathy with suppression bursts [RCV001911688] |
Chr2:166041384 [GRCh38]
Chr2:166897894 [GRCh37]
Chr2:2q24.3 |
uncertain significance |
| NM_001165963.4(SCN1A):c.751A>T (p.Met251Leu) |
single nucleotide variant |
Early infantile epileptic encephalopathy with suppression bursts [RCV002043376] |
Chr2:166051932 [GRCh38]
Chr2:166908442 [GRCh37]
Chr2:2q24.3 |
likely pathogenic |
| NM_001165963.4(SCN1A):c.5344A>C (p.Ile1782Leu) |
single nucleotide variant |
Early infantile epileptic encephalopathy with suppression bursts [RCV002021598] |
Chr2:165991931 [GRCh38]
Chr2:166848441 [GRCh37]
Chr2:2q24.3 |
uncertain significance |
| NM_001165963.4(SCN1A):c.5812G>A (p.Ala1938Thr) |
single nucleotide variant |
Early infantile epileptic encephalopathy with suppression bursts [RCV002042074] |
Chr2:165991463 [GRCh38]
Chr2:166847973 [GRCh37]
Chr2:2q24.3 |
uncertain significance |
| NM_001165963.4(SCN1A):c.5666T>C (p.Met1889Thr) |
single nucleotide variant |
Early infantile epileptic encephalopathy with suppression bursts [RCV002006994] |
Chr2:165991609 [GRCh38]
Chr2:166848119 [GRCh37]
Chr2:2q24.3 |
uncertain significance |
| NM_001165963.4(SCN1A):c.5832A>T (p.Lys1944Asn) |
single nucleotide variant |
Early infantile epileptic encephalopathy with suppression bursts [RCV002022800] |
Chr2:165991443 [GRCh38]
Chr2:166847953 [GRCh37]
Chr2:2q24.3 |
uncertain significance |
| NM_001165963.4(SCN1A):c.4002+2107C>T |
single nucleotide variant |
Early infantile epileptic encephalopathy with suppression bursts [RCV001965554] |
Chr2:166007612 [GRCh38]
Chr2:166864122 [GRCh37]
Chr2:2q24.3 |
likely benign|uncertain significance |
| NM_001165963.4(SCN1A):c.383C>A (p.Ser128Ter) |
single nucleotide variant |
Early infantile epileptic encephalopathy with suppression bursts [RCV002039735] |
Chr2:166058570 [GRCh38]
Chr2:166915080 [GRCh37]
Chr2:2q24.3 |
pathogenic |
| NM_001165963.4(SCN1A):c.554T>C (p.Phe185Ser) |
single nucleotide variant |
not provided [RCV001837083] |
Chr2:166054686 [GRCh38]
Chr2:166911196 [GRCh37]
Chr2:2q24.3 |
uncertain significance |
| NM_001165963.4(SCN1A):c.1327G>C (p.Glu443Gln) |
single nucleotide variant |
Early infantile epileptic encephalopathy with suppression bursts [RCV001984069] |
Chr2:166046820 [GRCh38]
Chr2:166903330 [GRCh37]
Chr2:2q24.3 |
uncertain significance |
| NM_001165963.4(SCN1A):c.1258G>C (p.Ala420Pro) |
single nucleotide variant |
Early infantile epileptic encephalopathy with suppression bursts [RCV002005275] |
Chr2:166046889 [GRCh38]
Chr2:166903399 [GRCh37]
Chr2:2q24.3 |
uncertain significance |
| NM_001165963.4(SCN1A):c.5440_5442del (p.Lys1814del) |
deletion |
Early infantile epileptic encephalopathy with suppression bursts [RCV002023102] |
Chr2:165991833..165991835 [GRCh38]
Chr2:166848343..166848345 [GRCh37]
Chr2:2q24.3 |
uncertain significance |
| NM_001165963.4(SCN1A):c.2684T>C (p.Leu895Pro) |
single nucleotide variant |
Early infantile epileptic encephalopathy with suppression bursts [RCV001947375] |
Chr2:166038038 [GRCh38]
Chr2:166894548 [GRCh37]
Chr2:2q24.3 |
pathogenic|uncertain significance |
| GRCh37/hg19 2q24.2-24.3(chr2:161551326-167762790) |
copy number loss |
not specified [RCV002053257] |
Chr2:161551326..167762790 [GRCh37]
Chr2:2q24.2-24.3 |
pathogenic |
| NM_001165963.4(SCN1A):c.5241C>A (p.Asn1747Lys) |
single nucleotide variant |
Early infantile epileptic encephalopathy with suppression bursts [RCV002043796] |
Chr2:165992034 [GRCh38]
Chr2:166848544 [GRCh37]
Chr2:2q24.3 |
uncertain significance |
| NM_001165963.4(SCN1A):c.2691G>A (p.Leu897=) |
single nucleotide variant |
Early infantile epileptic encephalopathy with suppression bursts [RCV001967173] |
Chr2:166038031 [GRCh38]
Chr2:166894541 [GRCh37]
Chr2:2q24.3 |
uncertain significance |
| NM_001165963.4(SCN1A):c.935T>C (p.Phe312Ser) |
single nucleotide variant |
Early infantile epileptic encephalopathy with suppression bursts [RCV001946717] |
Chr2:166051748 [GRCh38]
Chr2:166908258 [GRCh37]
Chr2:2q24.3 |
pathogenic |
| NM_001165963.4(SCN1A):c.2068A>G (p.Arg690Gly) |
single nucleotide variant |
Early infantile epileptic encephalopathy with suppression bursts [RCV001928063] |
Chr2:166042400 [GRCh38]
Chr2:166898910 [GRCh37]
Chr2:2q24.3 |
uncertain significance |
| NC_000002.11:g.(?_166909397)_(166913500_?)del |
deletion |
Early infantile epileptic encephalopathy with suppression bursts [RCV001913476] |
Chr2:166909397..166913500 [GRCh37]
Chr2:2q24.3 |
pathogenic |
| NM_001165963.4(SCN1A):c.3175G>T (p.Asp1059Tyr) |
single nucleotide variant |
Early infantile epileptic encephalopathy with suppression bursts [RCV002041011] |
Chr2:166036302 [GRCh38]
Chr2:166892812 [GRCh37]
Chr2:2q24.3 |
uncertain significance |
| NM_001165963.4(SCN1A):c.1376A>G (p.Gln459Arg) |
single nucleotide variant |
Early infantile epileptic encephalopathy with suppression bursts [RCV002002106] |
Chr2:166046771 [GRCh38]
Chr2:166903281 [GRCh37]
Chr2:2q24.3 |
uncertain significance |
| NM_001165963.4(SCN1A):c.2252C>T (p.Ser751Phe) |
single nucleotide variant |
Early infantile epileptic encephalopathy with suppression bursts [RCV001964138] |
Chr2:166041394 [GRCh38]
Chr2:166897904 [GRCh37]
Chr2:2q24.3 |
uncertain significance |
| NM_001165963.4(SCN1A):c.1709del (p.Ser570fs) |
deletion |
Early infantile epileptic encephalopathy with suppression bursts [RCV001967263] |
Chr2:166044003 [GRCh38]
Chr2:166900513 [GRCh37]
Chr2:2q24.3 |
pathogenic |
| NM_001165963.4(SCN1A):c.2266A>G (p.Lys756Glu) |
single nucleotide variant |
Early infantile epileptic encephalopathy with suppression bursts [RCV001946213]|not provided [RCV003149010] |
Chr2:166041380 [GRCh38]
Chr2:166897890 [GRCh37]
Chr2:2q24.3 |
uncertain significance |
| NM_001165963.4(SCN1A):c.5522T>C (p.Leu1841Pro) |
single nucleotide variant |
Early infantile epileptic encephalopathy with suppression bursts [RCV002002115] |
Chr2:165991753 [GRCh38]
Chr2:166848263 [GRCh37]
Chr2:2q24.3 |
uncertain significance |
| NM_001165963.4(SCN1A):c.5404G>A (p.Glu1802Lys) |
single nucleotide variant |
Early infantile epileptic encephalopathy with suppression bursts [RCV001892771]|Generalized epilepsy with febrile seizures plus, type 2 [RCV003330101]|Inborn genetic diseases [RCV002552875]|not provided [RCV002077341] |
Chr2:165991871 [GRCh38]
Chr2:166848381 [GRCh37]
Chr2:2q24.3 |
uncertain significance |
| NM_001165963.4(SCN1A):c.5599_5605del (p.Ile1867fs) |
deletion |
Severe myoclonic epilepsy in infancy [RCV001842254] |
Chr2:165991670..165991676 [GRCh38]
Chr2:166848180..166848186 [GRCh37]
Chr2:2q24.3 |
uncertain significance |
| NM_001165963.4(SCN1A):c.1301dup (p.Leu434fs) |
duplication |
Early infantile epileptic encephalopathy with suppression bursts [RCV002007285] |
Chr2:166046845..166046846 [GRCh38]
Chr2:166903355..166903356 [GRCh37]
Chr2:2q24.3 |
pathogenic |
| NM_001165963.4(SCN1A):c.5209_5210del (p.Lys1737fs) |
deletion |
Early infantile epileptic encephalopathy with suppression bursts [RCV002007300] |
Chr2:165992065..165992066 [GRCh38]
Chr2:166848575..166848576 [GRCh37]
Chr2:2q24.3 |
pathogenic |
| NM_001165963.4(SCN1A):c.3311dup (p.Phe1105fs) |
duplication |
Early infantile epileptic encephalopathy with suppression bursts [RCV002007304] |
Chr2:166036165..166036166 [GRCh38]
Chr2:166892675..166892676 [GRCh37]
Chr2:2q24.3 |
pathogenic |
| NM_001165963.4(SCN1A):c.5576del (p.Gly1859fs) |
deletion |
Early infantile epileptic encephalopathy with suppression bursts [RCV001947067] |
Chr2:165991699 [GRCh38]
Chr2:166848209 [GRCh37]
Chr2:2q24.3 |
pathogenic |
| NM_001165963.4(SCN1A):c.602+1del |
deletion |
Early infantile epileptic encephalopathy with suppression bursts [RCV002023550] |
Chr2:166054637 [GRCh38]
Chr2:166911147 [GRCh37]
Chr2:2q24.3 |
likely pathogenic |
| NM_001165963.4(SCN1A):c.506C>G (p.Ser169Ter) |
single nucleotide variant |
Early infantile epileptic encephalopathy with suppression bursts [RCV002039575] |
Chr2:166054734 [GRCh38]
Chr2:166911244 [GRCh37]
Chr2:2q24.3 |
pathogenic |
| NM_001165963.4(SCN1A):c.460A>G (p.Thr154Ala) |
single nucleotide variant |
Early infantile epileptic encephalopathy with suppression bursts [RCV001887383] |
Chr2:166056424 [GRCh38]
Chr2:166912934 [GRCh37]
Chr2:2q24.3 |
uncertain significance |
| NM_001165963.4(SCN1A):c.4473del (p.Lys1492fs) |
deletion |
Early infantile epileptic encephalopathy with suppression bursts [RCV002037829] |
Chr2:165998041 [GRCh38]
Chr2:166854551 [GRCh37]
Chr2:2q24.3 |
pathogenic |
| NM_001165963.4(SCN1A):c.1724del (p.Phe575fs) |
deletion |
Early infantile epileptic encephalopathy with suppression bursts [RCV001972659] |
Chr2:166043988 [GRCh38]
Chr2:166900498 [GRCh37]
Chr2:2q24.3 |
pathogenic |
| NM_001165963.4(SCN1A):c.861G>C (p.Leu287Phe) |
single nucleotide variant |
Early infantile epileptic encephalopathy with suppression bursts [RCV001957148] |
Chr2:166051822 [GRCh38]
Chr2:166908332 [GRCh37]
Chr2:2q24.3 |
uncertain significance |
| NM_001165963.4(SCN1A):c.4112G>T (p.Gly1371Val) |
single nucleotide variant |
Early infantile epileptic encephalopathy with suppression bursts [RCV001963710] |
Chr2:166002644 [GRCh38]
Chr2:166859154 [GRCh37]
Chr2:2q24.3 |
likely pathogenic|uncertain significance |
| NM_001165963.4(SCN1A):c.4582-1G>C |
single nucleotide variant |
Early infantile epileptic encephalopathy with suppression bursts [RCV001942175] |
Chr2:165994417 [GRCh38]
Chr2:166850927 [GRCh37]
Chr2:2q24.3 |
pathogenic |
| NM_001165963.4(SCN1A):c.5769G>T (p.Gln1923His) |
single nucleotide variant |
Early infantile epileptic encephalopathy with suppression bursts [RCV001942242] |
Chr2:165991506 [GRCh38]
Chr2:166848016 [GRCh37]
Chr2:2q24.3 |
pathogenic |
| NC_000002.11:g.(?_166852503)_(166856306_?)del |
deletion |
Early infantile epileptic encephalopathy with suppression bursts [RCV001942336] |
Chr2:166852503..166856306 [GRCh37]
Chr2:2q24.3 |
pathogenic |
| NC_000002.11:g.(?_166802014)_(166850946_?)del |
deletion |
Early infantile epileptic encephalopathy with suppression bursts [RCV001942338] |
Chr2:166802014..166850946 [GRCh37]
Chr2:2q24.3 |
pathogenic |
| NM_001165963.4(SCN1A):c.5016del (p.Asn1672fs) |
deletion |
Early infantile epileptic encephalopathy with suppression bursts [RCV001943194] |
Chr2:165992259 [GRCh38]
Chr2:166848769 [GRCh37]
Chr2:2q24.3 |
pathogenic |
| NM_001165963.4(SCN1A):c.3241G>A (p.Gly1081Arg) |
single nucleotide variant |
Early infantile epileptic encephalopathy with suppression bursts [RCV001884512] |
Chr2:166036236 [GRCh38]
Chr2:166892746 [GRCh37]
Chr2:2q24.3 |
likely pathogenic|uncertain significance |
| NM_001165963.4(SCN1A):c.942G>A (p.Trp314Ter) |
single nucleotide variant |
Early infantile epileptic encephalopathy with suppression bursts [RCV001938542] |
Chr2:166051741 [GRCh38]
Chr2:166908251 [GRCh37]
Chr2:2q24.3 |
pathogenic |
| NM_001165963.4(SCN1A):c.3893G>C (p.Ser1298Thr) |
single nucleotide variant |
Early infantile epileptic encephalopathy with suppression bursts [RCV001999575] |
Chr2:166009828 [GRCh38]
Chr2:166866338 [GRCh37]
Chr2:2q24.3 |
uncertain significance |
| NM_001165963.4(SCN1A):c.1195T>C (p.Tyr399His) |
single nucleotide variant |
Early infantile epileptic encephalopathy with suppression bursts [RCV002051017] |
Chr2:166046952 [GRCh38]
Chr2:166903462 [GRCh37]
Chr2:2q24.3 |
uncertain significance |
| NM_001165963.4(SCN1A):c.1203_1205del (p.Phe403del) |
deletion |
Early infantile epileptic encephalopathy with suppression bursts [RCV002001292] |
Chr2:166046942..166046944 [GRCh38]
Chr2:166903452..166903454 [GRCh37]
Chr2:2q24.3 |
likely pathogenic|uncertain significance |
| NM_001165963.4(SCN1A):c.4322C>T (p.Ala1441Val) |
single nucleotide variant |
Early infantile epileptic encephalopathy with suppression bursts [RCV001939397] |
Chr2:165999739 [GRCh38]
Chr2:166856249 [GRCh37]
Chr2:2q24.3 |
pathogenic |
| NM_001165963.4(SCN1A):c.4120T>C (p.Tyr1374His) |
single nucleotide variant |
Early infantile epileptic encephalopathy with suppression bursts [RCV002010733] |
Chr2:166002636 [GRCh38]
Chr2:166859146 [GRCh37]
Chr2:2q24.3 |
uncertain significance |
| NC_000002.11:g.(?_166847755)_(166898954_?)del |
deletion |
Early infantile epileptic encephalopathy with suppression bursts [RCV001942334] |
Chr2:166847755..166898954 [GRCh37]
Chr2:2q24.3 |
pathogenic |
| NC_000002.11:g.(?_166847755)_(166872257_?)del |
deletion |
Early infantile epileptic encephalopathy with suppression bursts [RCV001942335] |
Chr2:166847755..166872257 [GRCh37]
Chr2:2q24.3 |
pathogenic |
| NM_001165963.4(SCN1A):c.1184C>T (p.Ala395Val) |
single nucleotide variant |
Early infantile epileptic encephalopathy with suppression bursts [RCV001961854] |
Chr2:166046963 [GRCh38]
Chr2:166903473 [GRCh37]
Chr2:2q24.3 |
likely pathogenic|uncertain significance |
| NM_001165963.4(SCN1A):c.4543G>C (p.Gly1515Arg) |
single nucleotide variant |
Early infantile epileptic encephalopathy with suppression bursts [RCV001999963] |
Chr2:165996051 [GRCh38]
Chr2:166852561 [GRCh37]
Chr2:2q24.3 |
pathogenic |
| NC_000002.11:g.(?_166731265)_(166856306_?)del |
deletion |
Early infantile epileptic encephalopathy with suppression bursts [RCV001963014] |
Chr2:166731265..166856306 [GRCh37]
Chr2:2q24.3 |
pathogenic |
| NM_001165963.4(SCN1A):c.5675G>A (p.Arg1892Gln) |
single nucleotide variant |
Early infantile epileptic encephalopathy with suppression bursts [RCV001925018] |
Chr2:165991600 [GRCh38]
Chr2:166848110 [GRCh37]
Chr2:2q24.3 |
uncertain significance |
| NM_001165963.4(SCN1A):c.5052C>A (p.Tyr1684Ter) |
single nucleotide variant |
Early infantile epileptic encephalopathy with suppression bursts [RCV001950835] |
Chr2:165992223 [GRCh38]
Chr2:166848733 [GRCh37]
Chr2:2q24.3 |
pathogenic |
| NM_001165963.4(SCN1A):c.3905dup (p.Asn1302fs) |
duplication |
Early infantile epileptic encephalopathy with suppression bursts [RCV001956283] |
Chr2:166009815..166009816 [GRCh38]
Chr2:166866325..166866326 [GRCh37]
Chr2:2q24.3 |
pathogenic |
| NM_001165963.4(SCN1A):c.5594_5595dup (p.Asp1866fs) |
duplication |
Early infantile epileptic encephalopathy with suppression bursts [RCV001963044] |
Chr2:165991679..165991680 [GRCh38]
Chr2:166848189..166848190 [GRCh37]
Chr2:2q24.3 |
pathogenic |
| NM_001165963.4(SCN1A):c.337C>T (p.Pro113Ser) |
single nucleotide variant |
Early infantile epileptic encephalopathy with suppression bursts [RCV002001338] |
Chr2:166058616 [GRCh38]
Chr2:166915126 [GRCh37]
Chr2:2q24.3 |
pathogenic|likely pathogenic |
| NM_001165963.4(SCN1A):c.3342T>A (p.Thr1114=) |
single nucleotide variant |
Early infantile epileptic encephalopathy with suppression bursts [RCV001974510] |
Chr2:166036135 [GRCh38]
Chr2:166892645 [GRCh37]
Chr2:2q24.3 |
uncertain significance |
| NM_001165963.4(SCN1A):c.5782C>A (p.Arg1928Ser) |
single nucleotide variant |
Early infantile epileptic encephalopathy with suppression bursts [RCV001887844] |
Chr2:165991493 [GRCh38]
Chr2:166848003 [GRCh37]
Chr2:2q24.3 |
uncertain significance |
| NM_001165963.4(SCN1A):c.3767A>G (p.Asp1256Gly) |
single nucleotide variant |
Early infantile epileptic encephalopathy with suppression bursts [RCV002017215] |
Chr2:166012221 [GRCh38]
Chr2:166868731 [GRCh37]
Chr2:2q24.3 |
uncertain significance |
| NM_001165963.4(SCN1A):c.4921G>A (p.Ala1641Thr) |
single nucleotide variant |
Early infantile epileptic encephalopathy with suppression bursts [RCV001999845] |
Chr2:165992354 [GRCh38]
Chr2:166848864 [GRCh37]
Chr2:2q24.3 |
pathogenic |
| NM_001165963.4(SCN1A):c.3931G>A (p.Ala1311Thr) |
single nucleotide variant |
Early infantile epileptic encephalopathy with suppression bursts [RCV001942903] |
Chr2:166009790 [GRCh38]
Chr2:166866300 [GRCh37]
Chr2:2q24.3 |
likely benign|uncertain significance |
| NM_001165963.4(SCN1A):c.3942del (p.Leu1315fs) |
deletion |
Early infantile epileptic encephalopathy with suppression bursts [RCV001939457] |
Chr2:166009779 [GRCh38]
Chr2:166866289 [GRCh37]
Chr2:2q24.3 |
pathogenic |
| NM_001165963.4(SCN1A):c.4127G>A (p.Cys1376Tyr) |
single nucleotide variant |
Early infantile epileptic encephalopathy with suppression bursts [RCV001886984] |
Chr2:166002629 [GRCh38]
Chr2:166859139 [GRCh37]
Chr2:2q24.3 |
pathogenic |
| NM_001165963.4(SCN1A):c.1834dup (p.Arg612fs) |
duplication |
Early infantile epileptic encephalopathy with suppression bursts [RCV002037895] |
Chr2:166043877..166043878 [GRCh38]
Chr2:166900387..166900388 [GRCh37]
Chr2:2q24.3 |
pathogenic |
| NM_001165963.4(SCN1A):c.5383G>T (p.Glu1795Ter) |
single nucleotide variant |
Early infantile epileptic encephalopathy with suppression bursts [RCV001963142] |
Chr2:165991892 [GRCh38]
Chr2:166848402 [GRCh37]
Chr2:2q24.3 |
pathogenic |
| NM_001165963.4(SCN1A):c.4629T>C (p.Phe1543=) |
single nucleotide variant |
Early infantile epileptic encephalopathy with suppression bursts [RCV001875424] |
Chr2:165994369 [GRCh38]
Chr2:166850879 [GRCh37]
Chr2:2q24.3 |
likely benign |
| NM_001165963.4(SCN1A):c.5410G>A (p.Asp1804Asn) |
single nucleotide variant |
Early infantile epileptic encephalopathy with suppression bursts [RCV002048821] |
Chr2:165991865 [GRCh38]
Chr2:166848375 [GRCh37]
Chr2:2q24.3 |
uncertain significance |
| NM_001165963.4(SCN1A):c.2736del (p.Phe912fs) |
deletion |
Early infantile epileptic encephalopathy with suppression bursts [RCV001887016] |
Chr2:166037986 [GRCh38]
Chr2:166894496 [GRCh37]
Chr2:2q24.3 |
pathogenic |
| NM_001165963.4(SCN1A):c.4468A>G (p.Lys1490Glu) |
single nucleotide variant |
Early infantile epileptic encephalopathy with suppression bursts [RCV001962720] |
Chr2:165998046 [GRCh38]
Chr2:166854556 [GRCh37]
Chr2:2q24.3 |
uncertain significance |
| NM_001165963.4(SCN1A):c.2310T>A (p.Val770=) |
single nucleotide variant |
Early infantile epileptic encephalopathy with suppression bursts [RCV002038730] |
Chr2:166041336 [GRCh38]
Chr2:166897846 [GRCh37]
Chr2:2q24.3 |
uncertain significance |
| NM_001165963.4(SCN1A):c.4582-19C>T |
single nucleotide variant |
Early infantile epileptic encephalopathy with suppression bursts [RCV001923745] |
Chr2:165994435 [GRCh38]
Chr2:166850945 [GRCh37]
Chr2:2q24.3 |
likely benign|uncertain significance |
| NM_001165963.4(SCN1A):c.1170+1G>C |
single nucleotide variant |
Early infantile epileptic encephalopathy with suppression bursts [RCV002000125] |
Chr2:166047626 [GRCh38]
Chr2:166904136 [GRCh37]
Chr2:2q24.3 |
pathogenic |
| NM_001165963.4(SCN1A):c.940T>C (p.Trp314Arg) |
single nucleotide variant |
Early infantile epileptic encephalopathy with suppression bursts [RCV002030379] |
Chr2:166051743 [GRCh38]
Chr2:166908253 [GRCh37]
Chr2:2q24.3 |
likely pathogenic |
| NM_001165963.4(SCN1A):c.4144G>A (p.Gly1382Ser) |
single nucleotide variant |
Early infantile epileptic encephalopathy with suppression bursts [RCV001979479] |
Chr2:166002612 [GRCh38]
Chr2:166859122 [GRCh37]
Chr2:2q24.3 |
uncertain significance |
| NM_001165963.4(SCN1A):c.181C>T (p.Leu61Phe) |
single nucleotide variant |
Early infantile epileptic encephalopathy with suppression bursts [RCV001942164] |
Chr2:166073441 [GRCh38]
Chr2:166929951 [GRCh37]
Chr2:2q24.3 |
pathogenic |
| NM_001165963.4(SCN1A):c.5576G>C (p.Gly1859Ala) |
single nucleotide variant |
Early infantile epileptic encephalopathy with suppression bursts [RCV002017584] |
Chr2:165991699 [GRCh38]
Chr2:166848209 [GRCh37]
Chr2:2q24.3 |
uncertain significance |
| NM_001165963.4(SCN1A):c.3614G>A (p.Trp1205Ter) |
single nucleotide variant |
Early infantile epileptic encephalopathy with suppression bursts [RCV001943697] |
Chr2:166013835 [GRCh38]
Chr2:166870345 [GRCh37]
Chr2:2q24.3 |
pathogenic |
| NM_001165963.4(SCN1A):c.4860T>A (p.Phe1620Leu) |
single nucleotide variant |
Early infantile epileptic encephalopathy with suppression bursts [RCV002000271] |
Chr2:165992415 [GRCh38]
Chr2:166848925 [GRCh37]
Chr2:2q24.3 |
likely pathogenic |
| NM_001165963.4(SCN1A):c.392G>A (p.Ser131Asn) |
single nucleotide variant |
Early infantile epileptic encephalopathy with suppression bursts [RCV002014015] |
Chr2:166056492 [GRCh38]
Chr2:166913002 [GRCh37]
Chr2:2q24.3 |
uncertain significance |
| NM_001165963.4(SCN1A):c.2619G>T (p.Trp873Cys) |
single nucleotide variant |
Early infantile epileptic encephalopathy with suppression bursts [RCV001941714] |
Chr2:166038103 [GRCh38]
Chr2:166894613 [GRCh37]
Chr2:2q24.3 |
pathogenic |
| NM_001165963.4(SCN1A):c.2085T>G (p.Ser695Arg) |
single nucleotide variant |
Early infantile epileptic encephalopathy with suppression bursts [RCV001887609]|not provided [RCV002511101] |
Chr2:166042383 [GRCh38]
Chr2:166898893 [GRCh37]
Chr2:2q24.3 |
likely benign|uncertain significance |
| NM_001165963.4(SCN1A):c.4002+2494T>G |
single nucleotide variant |
Early infantile epileptic encephalopathy with suppression bursts [RCV001942604] |
Chr2:166007225 [GRCh38]
Chr2:166863735 [GRCh37]
Chr2:2q24.3 |
uncertain significance |
| NM_001165963.4(SCN1A):c.4853-12G>A |
single nucleotide variant |
Early infantile epileptic encephalopathy with suppression bursts [RCV002037671] |
Chr2:165992434 [GRCh38]
Chr2:166848944 [GRCh37]
Chr2:2q24.3 |
likely benign |
| NC_000002.11:g.(?_166929848)_(166930131_?)del |
deletion |
Early infantile epileptic encephalopathy with suppression bursts [RCV001975252] |
Chr2:166929848..166930131 [GRCh37]
Chr2:2q24.3 |
pathogenic |
| NM_001165963.4(SCN1A):c.5379del (p.Glu1794fs) |
deletion |
Early infantile epileptic encephalopathy with suppression bursts [RCV001902432] |
Chr2:165991896 [GRCh38]
Chr2:166848406 [GRCh37]
Chr2:2q24.3 |
pathogenic |
| NM_001165963.4(SCN1A):c.3676T>G (p.Phe1226Val) |
single nucleotide variant |
Early infantile epileptic encephalopathy with suppression bursts [RCV001973907]|not provided [RCV003136396] |
Chr2:166013773 [GRCh38]
Chr2:166870283 [GRCh37]
Chr2:2q24.3 |
likely pathogenic|uncertain significance |
| NC_000002.11:g.(?_166858962)_(166859283_?)del |
deletion |
Early infantile epileptic encephalopathy with suppression bursts [RCV001975033] |
Chr2:166858962..166859283 [GRCh37]
Chr2:2q24.3 |
pathogenic |
| NM_001165963.4(SCN1A):c.5112G>A (p.Met1704Ile) |
single nucleotide variant |
Early infantile epileptic encephalopathy with suppression bursts [RCV001933817] |
Chr2:165992163 [GRCh38]
Chr2:166848673 [GRCh37]
Chr2:2q24.3 |
uncertain significance |
| NM_001165963.4(SCN1A):c.1164T>A (p.Tyr388Ter) |
single nucleotide variant |
Early infantile epileptic encephalopathy with suppression bursts [RCV001917732] |
Chr2:166047633 [GRCh38]
Chr2:166904143 [GRCh37]
Chr2:2q24.3 |
pathogenic |
| NM_001165963.4(SCN1A):c.1512A>C (p.Arg504Ser) |
single nucleotide variant |
Early infantile epileptic encephalopathy with suppression bursts [RCV001932359] |
Chr2:166045193 [GRCh38]
Chr2:166901703 [GRCh37]
Chr2:2q24.3 |
uncertain significance |
| NM_001165963.4(SCN1A):c.1604G>C (p.Arg535Pro) |
single nucleotide variant |
Early infantile epileptic encephalopathy with suppression bursts [RCV001921770] |
Chr2:166045101 [GRCh38]
Chr2:166901611 [GRCh37]
Chr2:2q24.3 |
uncertain significance |
| NM_001165963.4(SCN1A):c.3424A>G (p.Lys1142Glu) |
single nucleotide variant |
Early infantile epileptic encephalopathy with suppression bursts [RCV001995000] |
Chr2:166036053 [GRCh38]
Chr2:166892563 [GRCh37]
Chr2:2q24.3 |
uncertain significance |
| NM_001165963.4(SCN1A):c.305T>C (p.Phe102Ser) |
single nucleotide variant |
Early infantile epileptic encephalopathy with suppression bursts [RCV001972685] |
Chr2:166058648 [GRCh38]
Chr2:166915158 [GRCh37]
Chr2:2q24.3 |
pathogenic |
| NM_001165963.4(SCN1A):c.4919T>A (p.Leu1640His) |
single nucleotide variant |
Early infantile epileptic encephalopathy with suppression bursts [RCV002032088] |
Chr2:165992356 [GRCh38]
Chr2:166848866 [GRCh37]
Chr2:2q24.3 |
uncertain significance |
| NM_001165963.4(SCN1A):c.4875_4918dup (p.Leu1640delinsGlnLysSerIleSerCysProLeuProCysSerGluTer) |
duplication |
Early infantile epileptic encephalopathy with suppression bursts [RCV001923050] |
Chr2:165992356..165992357 [GRCh38]
Chr2:166848866..166848867 [GRCh37]
Chr2:2q24.3 |
pathogenic |
| NM_001165963.4(SCN1A):c.2590-1G>A |
single nucleotide variant |
Early infantile epileptic encephalopathy with suppression bursts [RCV001933662] |
Chr2:166038133 [GRCh38]
Chr2:166894643 [GRCh37]
Chr2:2q24.3 |
pathogenic |
| NM_001165963.4(SCN1A):c.632A>C (p.Asn211Thr) |
single nucleotide variant |
Early infantile epileptic encephalopathy with suppression bursts [RCV001976629] |
Chr2:166052914 [GRCh38]
Chr2:166909424 [GRCh37]
Chr2:2q24.3 |
uncertain significance |
| NM_001165963.4(SCN1A):c.4844C>T (p.Ser1615Phe) |
single nucleotide variant |
Early infantile epileptic encephalopathy with suppression bursts [RCV002049641] |
Chr2:165994154 [GRCh38]
Chr2:166850664 [GRCh37]
Chr2:2q24.3 |
uncertain significance |
| NM_001165963.4(SCN1A):c.3584A>G (p.Asn1195Ser) |
single nucleotide variant |
Early infantile epileptic encephalopathy with suppression bursts [RCV001920750] |
Chr2:166013865 [GRCh38]
Chr2:166870375 [GRCh37]
Chr2:2q24.3 |
likely benign|uncertain significance |
| NM_001165963.4(SCN1A):c.3783C>A (p.Tyr1261Ter) |
single nucleotide variant |
Early infantile epileptic encephalopathy with suppression bursts [RCV001958376]|not provided [RCV003156365] |
Chr2:166012205 [GRCh38]
Chr2:166868715 [GRCh37]
Chr2:2q24.3 |
pathogenic |
| NM_001165963.4(SCN1A):c.1377+6G>T |
single nucleotide variant |
Early infantile epileptic encephalopathy with suppression bursts [RCV001867368] |
Chr2:166046764 [GRCh38]
Chr2:166903274 [GRCh37]
Chr2:2q24.3 |
uncertain significance |
| NM_001165963.4(SCN1A):c.4075C>G (p.Leu1359Val) |
single nucleotide variant |
Early infantile epileptic encephalopathy with suppression bursts [RCV001902034] |
Chr2:166002681 [GRCh38]
Chr2:166859191 [GRCh37]
Chr2:2q24.3 |
uncertain significance |
| NM_001165963.4(SCN1A):c.2928G>C (p.Met976Ile) |
single nucleotide variant |
Early infantile epileptic encephalopathy with suppression bursts [RCV001956011] |
Chr2:166037794 [GRCh38]
Chr2:166894304 [GRCh37]
Chr2:2q24.3 |
pathogenic |
| NM_001165963.4(SCN1A):c.2044-20_2051dup |
duplication |
Early infantile epileptic encephalopathy with suppression bursts [RCV001904294] |
Chr2:166042416..166042417 [GRCh38]
Chr2:166898926..166898927 [GRCh37]
Chr2:2q24.3 |
uncertain significance |
| NM_001165963.4(SCN1A):c.4002+2590T>C |
single nucleotide variant |
Early infantile epileptic encephalopathy with suppression bursts [RCV001995164] |
Chr2:166007129 [GRCh38]
Chr2:166863639 [GRCh37]
Chr2:2q24.3 |
likely benign|uncertain significance |
| NM_001165963.4(SCN1A):c.1457C>G (p.Ala486Gly) |
single nucleotide variant |
Early infantile epileptic encephalopathy with suppression bursts [RCV001864733]|Migraine, familial hemiplegic, 3 [RCV002503405] |
Chr2:166045248 [GRCh38]
Chr2:166901758 [GRCh37]
Chr2:2q24.3 |
likely benign|uncertain significance |
| NM_001165963.4(SCN1A):c.5195C>T (p.Pro1732Leu) |
single nucleotide variant |
Early infantile epileptic encephalopathy with suppression bursts [RCV001950833] |
Chr2:165992080 [GRCh38]
Chr2:166848590 [GRCh37]
Chr2:2q24.3 |
pathogenic |
| NM_001165963.4(SCN1A):c.4476+5G>A |
single nucleotide variant |
Early infantile epileptic encephalopathy with suppression bursts [RCV001950840] |
Chr2:165998033 [GRCh38]
Chr2:166854543 [GRCh37]
Chr2:2q24.3 |
pathogenic |
| NM_001165963.4(SCN1A):c.2596G>C (p.Val866Leu) |
single nucleotide variant |
Early infantile epileptic encephalopathy with suppression bursts [RCV001953417] |
Chr2:166038126 [GRCh38]
Chr2:166894636 [GRCh37]
Chr2:2q24.3 |
pathogenic |
| NM_001165963.4(SCN1A):c.2803A>T (p.Asn935Tyr) |
single nucleotide variant |
Early infantile epileptic encephalopathy with suppression bursts [RCV002013308] |
Chr2:166037919 [GRCh38]
Chr2:166894429 [GRCh37]
Chr2:2q24.3 |
uncertain significance |
| NM_001165963.4(SCN1A):c.3976G>A (p.Ala1326Thr) |
single nucleotide variant |
Early infantile epileptic encephalopathy with suppression bursts [RCV002028671] |
Chr2:166009745 [GRCh38]
Chr2:166866255 [GRCh37]
Chr2:2q24.3 |
likely pathogenic |
| NM_001165963.4(SCN1A):c.4588T>C (p.Phe1530Leu) |
single nucleotide variant |
Early infantile epileptic encephalopathy with suppression bursts [RCV001957807]|not provided [RCV003322907] |
Chr2:165994410 [GRCh38]
Chr2:166850920 [GRCh37]
Chr2:2q24.3 |
uncertain significance |
| NM_001165963.4(SCN1A):c.1411A>G (p.Arg471Gly) |
single nucleotide variant |
Early infantile epileptic encephalopathy with suppression bursts [RCV001995812] |
Chr2:166045294 [GRCh38]
Chr2:166901804 [GRCh37]
Chr2:2q24.3 |
uncertain significance |
| NM_001165963.4(SCN1A):c.3403G>T (p.Glu1135Ter) |
single nucleotide variant |
Early infantile epileptic encephalopathy with suppression bursts [RCV001864760] |
Chr2:166036074 [GRCh38]
Chr2:166892584 [GRCh37]
Chr2:2q24.3 |
pathogenic |
| NM_001165963.4(SCN1A):c.3705+3G>T |
single nucleotide variant |
Early infantile epileptic encephalopathy with suppression bursts [RCV002012188] |
Chr2:166013741 [GRCh38]
Chr2:166870251 [GRCh37]
Chr2:2q24.3 |
uncertain significance |
| NM_001165963.4(SCN1A):c.2399T>C (p.Leu800Pro) |
single nucleotide variant |
Early infantile epileptic encephalopathy with suppression bursts [RCV001974593] |
Chr2:166041247 [GRCh38]
Chr2:166897757 [GRCh37]
Chr2:2q24.3 |
uncertain significance |
| NM_001165963.4(SCN1A):c.3438_3442del (p.Asn1146fs) |
deletion |
Early infantile epileptic encephalopathy with suppression bursts [RCV001952468] |
Chr2:166015715..166015719 [GRCh38]
Chr2:166872225..166872229 [GRCh37]
Chr2:2q24.3 |
pathogenic |
| NC_000002.11:g.(?_166868599)_(166900579_?)del |
deletion |
Early infantile epileptic encephalopathy with suppression bursts [RCV001994661] |
Chr2:166868599..166900579 [GRCh37]
Chr2:2q24.3 |
pathogenic |
| NM_001165963.4(SCN1A):c.1923G>A (p.Met641Ile) |
single nucleotide variant |
Early infantile epileptic encephalopathy with suppression bursts [RCV001957936] |
Chr2:166043789 [GRCh38]
Chr2:166900299 [GRCh37]
Chr2:2q24.3 |
uncertain significance |
| NM_001165963.4(SCN1A):c.956A>G (p.Gln319Arg) |
single nucleotide variant |
Early infantile epileptic encephalopathy with suppression bursts [RCV001876945] |
Chr2:166051727 [GRCh38]
Chr2:166908237 [GRCh37]
Chr2:2q24.3 |
uncertain significance |
| NM_001165963.4(SCN1A):c.46TTC[1] (p.Phe17del) |
microsatellite |
Early infantile epileptic encephalopathy with suppression bursts [RCV001901341] |
Chr2:166073571..166073573 [GRCh38]
Chr2:166930081..166930083 [GRCh37]
Chr2:2q24.3 |
uncertain significance |
| NM_001165963.4(SCN1A):c.986G>A (p.Gly329Asp) |
single nucleotide variant |
Early infantile epileptic encephalopathy with suppression bursts [RCV001995946] |
Chr2:166048928 [GRCh38]
Chr2:166905438 [GRCh37]
Chr2:2q24.3 |
likely pathogenic |
| NM_001165963.4(SCN1A):c.1493G>C (p.Arg498Thr) |
single nucleotide variant |
Early infantile epileptic encephalopathy with suppression bursts [RCV001898668] |
Chr2:166045212 [GRCh38]
Chr2:166901722 [GRCh37]
Chr2:2q24.3 |
uncertain significance |
| NM_001165963.4(SCN1A):c.1668G>T (p.Leu556Phe) |
single nucleotide variant |
Early infantile epileptic encephalopathy with suppression bursts [RCV001865073] |
Chr2:166044044 [GRCh38]
Chr2:166900554 [GRCh37]
Chr2:2q24.3 |
uncertain significance |
| NM_001165963.4(SCN1A):c.5399T>G (p.Leu1800Arg) |
single nucleotide variant |
Early infantile epileptic encephalopathy with suppression bursts [RCV002046328] |
Chr2:165991876 [GRCh38]
Chr2:166848386 [GRCh37]
Chr2:2q24.3 |
pathogenic|likely pathogenic |
| NM_001165963.4(SCN1A):c.4555C>G (p.Pro1519Ala) |
single nucleotide variant |
Early infantile epileptic encephalopathy with suppression bursts [RCV001990657] |
Chr2:165996039 [GRCh38]
Chr2:166852549 [GRCh37]
Chr2:2q24.3 |
uncertain significance |
| NM_001165963.4(SCN1A):c.3884C>G (p.Ser1295Ter) |
single nucleotide variant |
Early infantile epileptic encephalopathy with suppression bursts [RCV001953864] |
Chr2:166009837 [GRCh38]
Chr2:166866347 [GRCh37]
Chr2:2q24.3 |
pathogenic |
| NM_001165963.4(SCN1A):c.4663A>G (p.Met1555Val) |
single nucleotide variant |
Early infantile epileptic encephalopathy with suppression bursts [RCV001916043] |
Chr2:165994335 [GRCh38]
Chr2:166850845 [GRCh37]
Chr2:2q24.3 |
uncertain significance |
| NM_001165963.4(SCN1A):c.208C>A (p.Pro70Thr) |
single nucleotide variant |
Early infantile epileptic encephalopathy with suppression bursts [RCV001919874] |
Chr2:166073414 [GRCh38]
Chr2:166929924 [GRCh37]
Chr2:2q24.3 |
uncertain significance |
| NM_001165963.4(SCN1A):c.2911_2913del (p.Val971del) |
deletion |
Early infantile epileptic encephalopathy with suppression bursts [RCV002029015] |
Chr2:166037809..166037811 [GRCh38]
Chr2:166894319..166894321 [GRCh37]
Chr2:2q24.3 |
pathogenic|likely pathogenic |
| NM_001165963.4(SCN1A):c.477C>A (p.Tyr159Ter) |
single nucleotide variant |
Early infantile epileptic encephalopathy with suppression bursts [RCV001993189] |
Chr2:166054763 [GRCh38]
Chr2:166911273 [GRCh37]
Chr2:2q24.3 |
pathogenic |
| NM_001165963.4(SCN1A):c.5636del (p.Ser1879fs) |
deletion |
Early infantile epileptic encephalopathy with suppression bursts [RCV001933360] |
Chr2:165991639 [GRCh38]
Chr2:166848149 [GRCh37]
Chr2:2q24.3 |
pathogenic |
| NM_001165963.4(SCN1A):c.3260del (p.Gly1087fs) |
deletion |
Early infantile epileptic encephalopathy with suppression bursts [RCV001921586] |
Chr2:166036217 [GRCh38]
Chr2:166892727 [GRCh37]
Chr2:2q24.3 |
pathogenic |
| NC_000002.11:g.(?_166847976)_(166851014_?)del |
deletion |
Early infantile epileptic encephalopathy with suppression bursts [RCV002047676] |
Chr2:166847976..166851014 [GRCh37]
Chr2:2q24.3 |
likely pathogenic |
| NM_001165963.4(SCN1A):c.5479A>T (p.Lys1827Ter) |
single nucleotide variant |
Early infantile epileptic encephalopathy with suppression bursts [RCV001994828]|Inborn genetic diseases [RCV002344116] |
Chr2:165991796 [GRCh38]
Chr2:166848306 [GRCh37]
Chr2:2q24.3 |
pathogenic |
| NM_001165963.4(SCN1A):c.4083C>A (p.Phe1361Leu) |
single nucleotide variant |
Early infantile epileptic encephalopathy with suppression bursts [RCV001904183] |
Chr2:166002673 [GRCh38]
Chr2:166859183 [GRCh37]
Chr2:2q24.3 |
pathogenic |
| NM_001165963.4(SCN1A):c.3241G>T (p.Gly1081Ter) |
single nucleotide variant |
Early infantile epileptic encephalopathy with suppression bursts [RCV001932225] |
Chr2:166036236 [GRCh38]
Chr2:166892746 [GRCh37]
Chr2:2q24.3 |
pathogenic |
| NM_001165963.4(SCN1A):c.1349del (p.Gln450fs) |
deletion |
Early infantile epileptic encephalopathy with suppression bursts [RCV001952852] |
Chr2:166046798 [GRCh38]
Chr2:166903308 [GRCh37]
Chr2:2q24.3 |
pathogenic |
| NC_000002.11:g.(?_165946660)_(166898954_?)dup |
duplication |
Early infantile epileptic encephalopathy with suppression bursts [RCV001916374] |
Chr2:165946660..166898954 [GRCh37]
Chr2:2q24.3 |
uncertain significance |
| NM_001165963.4(SCN1A):c.473+1G>A |
single nucleotide variant |
Early infantile epileptic encephalopathy with suppression bursts [RCV001958438]|Generalized epilepsy with febrile seizures plus, type 2 [RCV002246609] |
Chr2:166056410 [GRCh38]
Chr2:166912920 [GRCh37]
Chr2:2q24.3 |
pathogenic |
| NM_001165963.4(SCN1A):c.4017_4018dup (p.Leu1340fs) |
duplication |
Early infantile epileptic encephalopathy with suppression bursts [RCV001996919] |
Chr2:166002737..166002738 [GRCh38]
Chr2:166859247..166859248 [GRCh37]
Chr2:2q24.3 |
pathogenic |
| NM_001165963.4(SCN1A):c.5971A>G (p.Lys1991Glu) |
single nucleotide variant |
Early infantile epileptic encephalopathy with suppression bursts [RCV001998703] |
Chr2:165991304 [GRCh38]
Chr2:166847814 [GRCh37]
Chr2:2q24.3 |
uncertain significance |
| NC_000002.11:g.(?_166897721)_(167163604_?)dup |
duplication |
Early infantile epileptic encephalopathy with suppression bursts [RCV001940048]|Neuropathy, hereditary sensory and autonomic, type 2A [RCV001916373] |
Chr2:166897721..167163604 [GRCh37]
Chr2:2q24.3 |
uncertain significance |
| NM_001165963.4(SCN1A):c.4214C>T (p.Thr1405Ile) |
single nucleotide variant |
Early infantile epileptic encephalopathy with suppression bursts [RCV001956584] |
Chr2:166002542 [GRCh38]
Chr2:166859052 [GRCh37]
Chr2:2q24.3 |
uncertain significance |
| NM_001165963.4(SCN1A):c.4118T>C (p.Phe1373Ser) |
single nucleotide variant |
Early infantile epileptic encephalopathy with suppression bursts [RCV001882187] |
Chr2:166002638 [GRCh38]
Chr2:166859148 [GRCh37]
Chr2:2q24.3 |
uncertain significance |
| NM_001165963.4(SCN1A):c.5053_5054delinsTT (p.Ala1685Phe) |
indel |
Early infantile epileptic encephalopathy with suppression bursts [RCV001951700] |
Chr2:165992221..165992222 [GRCh38]
Chr2:166848731..166848732 [GRCh37]
Chr2:2q24.3 |
uncertain significance |
| NM_001165963.4(SCN1A):c.5957A>G (p.Tyr1986Cys) |
single nucleotide variant |
Early infantile epileptic encephalopathy with suppression bursts [RCV001881254] |
Chr2:165991318 [GRCh38]
Chr2:166847828 [GRCh37]
Chr2:2q24.3 |
uncertain significance |
| NM_001165963.4(SCN1A):c.5492T>A (p.Phe1831Tyr) |
single nucleotide variant |
Early infantile epileptic encephalopathy with suppression bursts [RCV001977666]|Generalized epilepsy with febrile seizures plus, type 2 [RCV002246633] |
Chr2:165991783 [GRCh38]
Chr2:166848293 [GRCh37]
Chr2:2q24.3 |
pathogenic|uncertain significance |
| NM_001165963.4(SCN1A):c.3445_3450del (p.Ser1151_Ser1152del) |
deletion |
Early infantile epileptic encephalopathy with suppression bursts [RCV001974126] |
Chr2:166015707..166015712 [GRCh38]
Chr2:166872217..166872222 [GRCh37]
Chr2:2q24.3 |
uncertain significance |
| NM_001165963.4(SCN1A):c.2515_2517del (p.Ile839del) |
deletion |
Early infantile epileptic encephalopathy with suppression bursts [RCV001977687] |
Chr2:166039495..166039497 [GRCh38]
Chr2:166896005..166896007 [GRCh37]
Chr2:2q24.3 |
uncertain significance |
| NM_001165963.4(SCN1A):c.2856G>C (p.Trp952Cys) |
single nucleotide variant |
Early infantile epileptic encephalopathy with suppression bursts [RCV002020101] |
Chr2:166037866 [GRCh38]
Chr2:166894376 [GRCh37]
Chr2:2q24.3 |
pathogenic|likely pathogenic |
| NM_001165963.4(SCN1A):c.892G>A (p.Val298Met) |
single nucleotide variant |
Early infantile epileptic encephalopathy with suppression bursts [RCV001931448] |
Chr2:166051791 [GRCh38]
Chr2:166908301 [GRCh37]
Chr2:2q24.3 |
likely benign|uncertain significance |
| NM_001165963.4(SCN1A):c.4727T>A (p.Ile1576Asn) |
single nucleotide variant |
Early infantile epileptic encephalopathy with suppression bursts [RCV002028532] |
Chr2:165994271 [GRCh38]
Chr2:166850781 [GRCh37]
Chr2:2q24.3 |
uncertain significance |
| NM_001165963.4(SCN1A):c.5474T>G (p.Phe1825Cys) |
single nucleotide variant |
Early infantile epileptic encephalopathy with suppression bursts [RCV001884564] |
Chr2:165991801 [GRCh38]
Chr2:166848311 [GRCh37]
Chr2:2q24.3 |
uncertain significance |
| NC_000002.11:g.(?_166847735)_(166852647_?)del |
deletion |
Early infantile epileptic encephalopathy with suppression bursts [RCV001879146] |
Chr2:166847735..166852647 [GRCh37]
Chr2:2q24.3 |
pathogenic |
| NM_001165963.4(SCN1A):c.1779T>G (p.Asp593Glu) |
single nucleotide variant |
Early infantile epileptic encephalopathy with suppression bursts [RCV002027319] |
Chr2:166043933 [GRCh38]
Chr2:166900443 [GRCh37]
Chr2:2q24.3 |
uncertain significance |
| NM_001165963.4(SCN1A):c.1900del (p.Val634fs) |
deletion |
Early infantile epileptic encephalopathy with suppression bursts [RCV001903017] |
Chr2:166043812 [GRCh38]
Chr2:166900322 [GRCh37]
Chr2:2q24.3 |
pathogenic |
| NM_001165963.4(SCN1A):c.1170+3_1170+4delinsTT |
indel |
Early infantile epileptic encephalopathy with suppression bursts [RCV002019011] |
Chr2:166047623..166047624 [GRCh38]
Chr2:166904133..166904134 [GRCh37]
Chr2:2q24.3 |
uncertain significance |
| NM_001165963.4(SCN1A):c.4653C>G (p.Ile1551Met) |
single nucleotide variant |
Early infantile epileptic encephalopathy with suppression bursts [RCV001990261] |
Chr2:165994345 [GRCh38]
Chr2:166850855 [GRCh37]
Chr2:2q24.3 |
uncertain significance |
| NM_001165963.4(SCN1A):c.247T>G (p.Tyr83Asp) |
single nucleotide variant |
Early infantile epileptic encephalopathy with suppression bursts [RCV001953484] |
Chr2:166073375 [GRCh38]
Chr2:166929885 [GRCh37]
Chr2:2q24.3 |
pathogenic |
| NM_001165963.4(SCN1A):c.1486del (p.Glu496fs) |
deletion |
Early infantile epileptic encephalopathy with suppression bursts [RCV001950843] |
Chr2:166045219 [GRCh38]
Chr2:166901729 [GRCh37]
Chr2:2q24.3 |
pathogenic |
| NM_001165963.4(SCN1A):c.5269G>A (p.Gly1757Arg) |
single nucleotide variant |
Early infantile epileptic encephalopathy with suppression bursts [RCV001956143] |
Chr2:165992006 [GRCh38]
Chr2:166848516 [GRCh37]
Chr2:2q24.3 |
pathogenic |
| NM_001165963.4(SCN1A):c.1817A>T (p.Asp606Val) |
single nucleotide variant |
Early infantile epileptic encephalopathy with suppression bursts [RCV001958037]|not provided [RCV003229071] |
Chr2:166043895 [GRCh38]
Chr2:166900405 [GRCh37]
Chr2:2q24.3 |
uncertain significance |
| NM_001165963.4(SCN1A):c.5428G>A (p.Glu1810Lys) |
single nucleotide variant |
Early infantile epileptic encephalopathy with suppression bursts [RCV001934229] |
Chr2:165991847 [GRCh38]
Chr2:166848357 [GRCh37]
Chr2:2q24.3 |
uncertain significance |
| NM_001165963.4(SCN1A):c.2940C>A (p.Asn980Lys) |
single nucleotide variant |
Early infantile epileptic encephalopathy with suppression bursts [RCV001866639] |
Chr2:166037782 [GRCh38]
Chr2:166894292 [GRCh37]
Chr2:2q24.3 |
pathogenic |
| NM_001165963.4(SCN1A):c.5831A>T (p.Lys1944Ile) |
single nucleotide variant |
Early infantile epileptic encephalopathy with suppression bursts [RCV001972010] |
Chr2:165991444 [GRCh38]
Chr2:166847954 [GRCh37]
Chr2:2q24.3 |
uncertain significance |
| NM_001165963.4(SCN1A):c.300C>G (p.Phe100Leu) |
single nucleotide variant |
Early infantile epileptic encephalopathy with suppression bursts [RCV001903205] |
Chr2:166058653 [GRCh38]
Chr2:166915163 [GRCh37]
Chr2:2q24.3 |
likely pathogenic|uncertain significance |
| NM_001165963.4(SCN1A):c.1051T>A (p.Cys351Ser) |
single nucleotide variant |
Early infantile epileptic encephalopathy with suppression bursts [RCV001996082] |
Chr2:166047746 [GRCh38]
Chr2:166904256 [GRCh37]
Chr2:2q24.3 |
uncertain significance |
| NM_001165963.4(SCN1A):c.3308T>C (p.Met1103Thr) |
single nucleotide variant |
Early infantile epileptic encephalopathy with suppression bursts [RCV001897278]|not provided [RCV003136245] |
Chr2:166036169 [GRCh38]
Chr2:166892679 [GRCh37]
Chr2:2q24.3 |
uncertain significance |
| NM_001165963.4(SCN1A):c.4378T>G (p.Tyr1460Asp) |
single nucleotide variant |
Early infantile epileptic encephalopathy with suppression bursts [RCV001931854] |
Chr2:165998136 [GRCh38]
Chr2:166854646 [GRCh37]
Chr2:2q24.3 |
uncertain significance |
| NM_001165963.4(SCN1A):c.3965G>C (p.Arg1322Thr) |
single nucleotide variant |
Early infantile epileptic encephalopathy with suppression bursts [RCV001956282]|not provided [RCV002285521] |
Chr2:166009756 [GRCh38]
Chr2:166866266 [GRCh37]
Chr2:2q24.3 |
pathogenic |
| NM_001165963.4(SCN1A):c.74_264+41del |
deletion |
Early infantile epileptic encephalopathy with suppression bursts [RCV001958832] |
Chr2:166073317..166073548 [GRCh38]
Chr2:166929827..166930058 [GRCh37]
Chr2:2q24.3 |
pathogenic |
| NM_001165963.4(SCN1A):c.2402_2403insT (p.Val802fs) |
insertion |
Early infantile epileptic encephalopathy with suppression bursts [RCV001939399] |
Chr2:166041243..166041244 [GRCh38]
Chr2:166897753..166897754 [GRCh37]
Chr2:2q24.3 |
pathogenic |
| NM_001165963.4(SCN1A):c.1199dup (p.Met400fs) |
duplication |
Early infantile epileptic encephalopathy with suppression bursts [RCV001951147] |
Chr2:166046947..166046948 [GRCh38]
Chr2:166903457..166903458 [GRCh37]
Chr2:2q24.3 |
pathogenic |
| NM_001165963.4(SCN1A):c.3365C>G (p.Ser1122Cys) |
single nucleotide variant |
Early infantile epileptic encephalopathy with suppression bursts [RCV001877007] |
Chr2:166036112 [GRCh38]
Chr2:166892622 [GRCh37]
Chr2:2q24.3 |
uncertain significance |
| NM_001165963.4(SCN1A):c.478del (p.Thr160fs) |
deletion |
Early infantile epileptic encephalopathy with suppression bursts [RCV001904953] |
Chr2:166054762 [GRCh38]
Chr2:166911272 [GRCh37]
Chr2:2q24.3 |
pathogenic |
| NC_000002.11:g.(?_166210682)_(167168266_?)del |
deletion |
Seizures, benign familial infantile, 3 [RCV001958879] |
Chr2:166210682..167168266 [GRCh37]
Chr2:2q24.3 |
pathogenic |
| NC_000002.11:g.(?_165946660)_(167168266_?)dup |
duplication |
Early infantile epileptic encephalopathy with suppression bursts [RCV001940047] |
Chr2:165946660..167168266 [GRCh37]
Chr2:2q24.3 |
uncertain significance |
| NM_001165963.4(SCN1A):c.4285G>T (p.Ala1429Ser) |
single nucleotide variant |
Early infantile epileptic encephalopathy with suppression bursts [RCV001925461] |
Chr2:165999776 [GRCh38]
Chr2:166856286 [GRCh37]
Chr2:2q24.3 |
uncertain significance |
| NM_001165963.4(SCN1A):c.427_430del (p.Val143fs) |
microsatellite |
Early infantile epileptic encephalopathy with suppression bursts [RCV001917437]|not provided [RCV002282634] |
Chr2:166056454..166056457 [GRCh38]
Chr2:166912964..166912967 [GRCh37]
Chr2:2q24.3 |
pathogenic |
| NM_001165963.4(SCN1A):c.2415+9A>G |
single nucleotide variant |
Early infantile epileptic encephalopathy with suppression bursts [RCV002012521]|Migraine, familial hemiplegic, 3 [RCV002507766] |
Chr2:166041222 [GRCh38]
Chr2:166897732 [GRCh37]
Chr2:2q24.3 |
likely benign |
| NM_001165963.4(SCN1A):c.5017A>G (p.Ile1673Val) |
single nucleotide variant |
Early infantile epileptic encephalopathy with suppression bursts [RCV002017469] |
Chr2:165992258 [GRCh38]
Chr2:166848768 [GRCh37]
Chr2:2q24.3 |
likely pathogenic |
| NM_001165963.4(SCN1A):c.2856G>A (p.Trp952Ter) |
single nucleotide variant |
Early infantile epileptic encephalopathy with suppression bursts [RCV002035338] |
Chr2:166037866 [GRCh38]
Chr2:166894376 [GRCh37]
Chr2:2q24.3 |
pathogenic |
| NM_001165963.4(SCN1A):c.5845G>T (p.Gly1949Cys) |
single nucleotide variant |
Early infantile epileptic encephalopathy with suppression bursts [RCV001926107] |
Chr2:165991430 [GRCh38]
Chr2:166847940 [GRCh37]
Chr2:2q24.3 |
uncertain significance |
| NM_001165963.4(SCN1A):c.4594G>A (p.Gly1532Arg) |
single nucleotide variant |
Early infantile epileptic encephalopathy with suppression bursts [RCV001922132] |
Chr2:165994404 [GRCh38]
Chr2:166850914 [GRCh37]
Chr2:2q24.3 |
uncertain significance |
| NM_001165963.4(SCN1A):c.2440G>T (p.Glu814Ter) |
single nucleotide variant |
Early infantile epileptic encephalopathy with suppression bursts [RCV001884894] |
Chr2:166039572 [GRCh38]
Chr2:166896082 [GRCh37]
Chr2:2q24.3 |
pathogenic |
| NM_001165963.4(SCN1A):c.1029-5T>G |
single nucleotide variant |
Early infantile epileptic encephalopathy with suppression bursts [RCV001925533] |
Chr2:166047773 [GRCh38]
Chr2:166904283 [GRCh37]
Chr2:2q24.3 |
uncertain significance |
| NC_000002.11:g.(?_166905376)_(166905479_?)del |
deletion |
Early infantile epileptic encephalopathy with suppression bursts [RCV001951456] |
Chr2:166905376..166905479 [GRCh37]
Chr2:2q24.3 |
pathogenic |
| NM_001165963.4(SCN1A):c.5123A>T (p.Glu1708Val) |
single nucleotide variant |
Early infantile epileptic encephalopathy with suppression bursts [RCV001902602] |
Chr2:165992152 [GRCh38]
Chr2:166848662 [GRCh37]
Chr2:2q24.3 |
uncertain significance |
| NM_001165963.4(SCN1A):c.3356T>C (p.Val1119Ala) |
single nucleotide variant |
Early infantile epileptic encephalopathy with suppression bursts [RCV002015105] |
Chr2:166036121 [GRCh38]
Chr2:166892631 [GRCh37]
Chr2:2q24.3 |
uncertain significance |
| NM_001165963.4(SCN1A):c.3386C>T (p.Thr1129Met) |
single nucleotide variant |
Early infantile epileptic encephalopathy with suppression bursts [RCV001980510] |
Chr2:166036091 [GRCh38]
Chr2:166892601 [GRCh37]
Chr2:2q24.3 |
uncertain significance |
| NM_001165963.4(SCN1A):c.931dup (p.Glu311fs) |
duplication |
Early infantile epileptic encephalopathy with suppression bursts [RCV001972469] |
Chr2:166051751..166051752 [GRCh38]
Chr2:166908261..166908262 [GRCh37]
Chr2:2q24.3 |
pathogenic |
| NM_001165963.4(SCN1A):c.1175T>C (p.Leu392Ser) |
single nucleotide variant |
Early infantile epileptic encephalopathy with suppression bursts [RCV001990893] |
Chr2:166046972 [GRCh38]
Chr2:166903482 [GRCh37]
Chr2:2q24.3 |
uncertain significance |
| NM_001165963.4(SCN1A):c.985G>A (p.Gly329Ser) |
single nucleotide variant |
Early infantile epileptic encephalopathy with suppression bursts [RCV002049198] |
Chr2:166048929 [GRCh38]
Chr2:166905439 [GRCh37]
Chr2:2q24.3 |
uncertain significance |
| NM_001165963.4(SCN1A):c.473+5G>A |
single nucleotide variant |
Early infantile epileptic encephalopathy with suppression bursts [RCV001932946] |
Chr2:166056406 [GRCh38]
Chr2:166912916 [GRCh37]
Chr2:2q24.3 |
pathogenic |
| NM_001165963.4(SCN1A):c.4256G>T (p.Gly1419Val) |
single nucleotide variant |
Early infantile epileptic encephalopathy with suppression bursts [RCV001992444] |
Chr2:166002500 [GRCh38]
Chr2:166859010 [GRCh37]
Chr2:2q24.3 |
likely pathogenic|uncertain significance |
| NM_001165963.4(SCN1A):c.1574C>T (p.Ser525Phe) |
single nucleotide variant |
Early infantile epileptic encephalopathy with suppression bursts [RCV001979725] |
Chr2:166045131 [GRCh38]
Chr2:166901641 [GRCh37]
Chr2:2q24.3 |
likely pathogenic|uncertain significance |
| NM_001165963.4(SCN1A):c.926_931del (p.Val309_Phe310del) |
deletion |
Early infantile epileptic encephalopathy with suppression bursts [RCV002048500]|Generalized epilepsy with febrile seizures plus, type 2 [RCV002471221] |
Chr2:166051752..166051757 [GRCh38]
Chr2:166908262..166908267 [GRCh37]
Chr2:2q24.3 |
uncertain significance |
| NM_001165963.4(SCN1A):c.1478G>C (p.Ser493Thr) |
single nucleotide variant |
Early infantile epileptic encephalopathy with suppression bursts [RCV002028623] |
Chr2:166045227 [GRCh38]
Chr2:166901737 [GRCh37]
Chr2:2q24.3 |
uncertain significance |
| NM_001165963.4(SCN1A):c.1052G>C (p.Cys351Ser) |
single nucleotide variant |
Early infantile epileptic encephalopathy with suppression bursts [RCV002034121] |
Chr2:166047745 [GRCh38]
Chr2:166904255 [GRCh37]
Chr2:2q24.3 |
likely pathogenic|uncertain significance |
| NM_001165963.4(SCN1A):c.1166A>C (p.Gln389Pro) |
single nucleotide variant |
Early infantile epileptic encephalopathy with suppression bursts [RCV001951656] |
Chr2:166047631 [GRCh38]
Chr2:166904141 [GRCh37]
Chr2:2q24.3 |
uncertain significance |
| NM_001165963.4(SCN1A):c.2601C>A (p.Phe867Leu) |
single nucleotide variant |
Early infantile epileptic encephalopathy with suppression bursts [RCV002012155] |
Chr2:166038121 [GRCh38]
Chr2:166894631 [GRCh37]
Chr2:2q24.3 |
uncertain significance |
| NM_001165963.4(SCN1A):c.7C>A (p.Gln3Lys) |
single nucleotide variant |
Early infantile epileptic encephalopathy with suppression bursts [RCV001901510] |
Chr2:166073615 [GRCh38]
Chr2:166930125 [GRCh37]
Chr2:2q24.3 |
uncertain significance |
| NM_001165963.4(SCN1A):c.5542C>T (p.Gln1848Ter) |
single nucleotide variant |
Early infantile epileptic encephalopathy with suppression bursts [RCV001956274] |
Chr2:165991733 [GRCh38]
Chr2:166848243 [GRCh37]
Chr2:2q24.3 |
pathogenic |
| NM_001165963.4(SCN1A):c.895A>G (p.Asn299Asp) |
single nucleotide variant |
Early infantile epileptic encephalopathy with suppression bursts [RCV002018687] |
Chr2:166051788 [GRCh38]
Chr2:166908298 [GRCh37]
Chr2:2q24.3 |
likely benign|uncertain significance |
| NM_001165963.4(SCN1A):c.5486C>G (p.Ser1829Cys) |
single nucleotide variant |
Early infantile epileptic encephalopathy with suppression bursts [RCV001905350] |
Chr2:165991789 [GRCh38]
Chr2:166848299 [GRCh37]
Chr2:2q24.3 |
uncertain significance |
| NM_001165963.4(SCN1A):c.2499del (p.Asn833fs) |
deletion |
Early infantile epileptic encephalopathy with suppression bursts [RCV001938499] |
Chr2:166039513 [GRCh38]
Chr2:166896023 [GRCh37]
Chr2:2q24.3 |
pathogenic |
| NM_001165963.4(SCN1A):c.1036C>T (p.Pro346Ser) |
single nucleotide variant |
Early infantile epileptic encephalopathy with suppression bursts [RCV002018847] |
Chr2:166047761 [GRCh38]
Chr2:166904271 [GRCh37]
Chr2:2q24.3 |
pathogenic|uncertain significance |
| NM_001165963.4(SCN1A):c.1109G>A (p.Trp370Ter) |
single nucleotide variant |
Early infantile epileptic encephalopathy with suppression bursts [RCV001925698] |
Chr2:166047688 [GRCh38]
Chr2:166904198 [GRCh37]
Chr2:2q24.3 |
pathogenic |
| NM_001165963.4(SCN1A):c.2176+1G>T |
single nucleotide variant |
Early infantile epileptic encephalopathy with suppression bursts [RCV001907467] |
Chr2:166042291 [GRCh38]
Chr2:166898801 [GRCh37]
Chr2:2q24.3 |
pathogenic |
| NM_001165963.4(SCN1A):c.871A>G (p.Ser291Gly) |
single nucleotide variant |
Early infantile epileptic encephalopathy with suppression bursts [RCV001938782] |
Chr2:166051812 [GRCh38]
Chr2:166908322 [GRCh37]
Chr2:2q24.3 |
uncertain significance |
| NM_001165963.4(SCN1A):c.3550+16C>T |
single nucleotide variant |
Early infantile epileptic encephalopathy with suppression bursts [RCV001997816]|not provided [RCV002224125] |
Chr2:166015591 [GRCh38]
Chr2:166872101 [GRCh37]
Chr2:2q24.3 |
likely benign|uncertain significance |
| NM_001165963.4(SCN1A):c.907A>T (p.Thr303Ser) |
single nucleotide variant |
Early infantile epileptic encephalopathy with suppression bursts [RCV002035168] |
Chr2:166051776 [GRCh38]
Chr2:166908286 [GRCh37]
Chr2:2q24.3 |
likely benign|uncertain significance |
| NM_001165963.4(SCN1A):c.911_912del (p.Leu304fs) |
deletion |
Early infantile epileptic encephalopathy with suppression bursts [RCV001906507] |
Chr2:166051771..166051772 [GRCh38]
Chr2:166908281..166908282 [GRCh37]
Chr2:2q24.3 |
pathogenic |
| NM_001165963.4(SCN1A):c.2415+1del |
deletion |
Early infantile epileptic encephalopathy with suppression bursts [RCV002012226] |
Chr2:166041230 [GRCh38]
Chr2:166897740 [GRCh37]
Chr2:2q24.3 |
pathogenic |
| NM_001165963.4(SCN1A):c.5798G>C (p.Arg1933Pro) |
single nucleotide variant |
Early infantile epileptic encephalopathy with suppression bursts [RCV001919371] |
Chr2:165991477 [GRCh38]
Chr2:166847987 [GRCh37]
Chr2:2q24.3 |
uncertain significance |
| NM_001165963.4(SCN1A):c.4371_4372insGAGGAAAATCGCTTCAACCTGGGAGGCAGAGGTTGCAGTGAGCCGAGATTGCACCACTGCACTCCACCCAGACNNNNNNNNNNAAAAAAAAAAAAAAAAAAAAAAGAAAGTCTG (p.Leu1457_Tyr1458insGluGluAsnArgPheAsnLeuGlyGlyArgGlyCysSerGluProArgLeuHisHisCysThrProProArgXaaXaaXaaXaaLysLysLysLysLysLysLysGluSerLeu) |
insertion |
Early infantile epileptic encephalopathy with suppression bursts [RCV001950944] |
Chr2:165998142..165998143 [GRCh38]
Chr2:166854652..166854653 [GRCh37]
Chr2:2q24.3 |
pathogenic |
| NM_001165963.4(SCN1A):c.2332A>G (p.Ile778Val) |
single nucleotide variant |
Early infantile epileptic encephalopathy with suppression bursts [RCV001973861] |
Chr2:166041314 [GRCh38]
Chr2:166897824 [GRCh37]
Chr2:2q24.3 |
uncertain significance |
| NM_001165963.4(SCN1A):c.1043G>T (p.Gly348Val) |
single nucleotide variant |
Early infantile epileptic encephalopathy with suppression bursts [RCV001903891] |
Chr2:166047754 [GRCh38]
Chr2:166904264 [GRCh37]
Chr2:2q24.3 |
uncertain significance |
| NM_001165963.4(SCN1A):c.4427A>G (p.Asn1476Ser) |
single nucleotide variant |
Early infantile epileptic encephalopathy with suppression bursts [RCV001951007] |
Chr2:165998087 [GRCh38]
Chr2:166854597 [GRCh37]
Chr2:2q24.3 |
pathogenic |
| NM_001165963.4(SCN1A):c.4002+2272C>G |
single nucleotide variant |
Early infantile epileptic encephalopathy with suppression bursts [RCV001971903] |
Chr2:166007447 [GRCh38]
Chr2:166863957 [GRCh37]
Chr2:2q24.3 |
likely benign|uncertain significance |
| NM_001165963.4(SCN1A):c.811G>A (p.Gly271Ser) |
single nucleotide variant |
Early infantile epileptic encephalopathy with suppression bursts [RCV001951947]|Migraine, familial hemiplegic, 3 [RCV002479417] |
Chr2:166051872 [GRCh38]
Chr2:166908382 [GRCh37]
Chr2:2q24.3 |
pathogenic|likely pathogenic |
| NM_001165963.4(SCN1A):c.1620del (p.Asn541fs) |
deletion |
Early infantile epileptic encephalopathy with suppression bursts [RCV001950985] |
Chr2:166045085 [GRCh38]
Chr2:166901595 [GRCh37]
Chr2:2q24.3 |
pathogenic |
| NM_001165963.4(SCN1A):c.3385A>T (p.Thr1129Ser) |
single nucleotide variant |
Early infantile epileptic encephalopathy with suppression bursts [RCV001864907] |
Chr2:166036092 [GRCh38]
Chr2:166892602 [GRCh37]
Chr2:2q24.3 |
uncertain significance |
| NM_001165963.4(SCN1A):c.409A>C (p.Thr137Pro) |
single nucleotide variant |
Early infantile epileptic encephalopathy with suppression bursts [RCV001994692] |
Chr2:166056475 [GRCh38]
Chr2:166912985 [GRCh37]
Chr2:2q24.3 |
pathogenic |
| NM_001165963.4(SCN1A):c.4958C>A (p.Ala1653Glu) |
single nucleotide variant |
Early infantile epileptic encephalopathy with suppression bursts [RCV002013548] |
Chr2:165992317 [GRCh38]
Chr2:166848827 [GRCh37]
Chr2:2q24.3 |
uncertain significance |
| NM_001165963.4(SCN1A):c.2950C>G (p.Leu984Val) |
single nucleotide variant |
Early infantile epileptic encephalopathy with suppression bursts [RCV001994882] |
Chr2:166036527 [GRCh38]
Chr2:166893037 [GRCh37]
Chr2:2q24.3 |
pathogenic |
| NM_001165963.4(SCN1A):c.1708A>T (p.Ser570Cys) |
single nucleotide variant |
Early infantile epileptic encephalopathy with suppression bursts [RCV002015509] |
Chr2:166044004 [GRCh38]
Chr2:166900514 [GRCh37]
Chr2:2q24.3 |
uncertain significance |
| NM_001165963.4(SCN1A):c.4108G>C (p.Ala1370Pro) |
single nucleotide variant |
Early infantile epileptic encephalopathy with suppression bursts [RCV001996260] |
Chr2:166002648 [GRCh38]
Chr2:166859158 [GRCh37]
Chr2:2q24.3 |
likely pathogenic |
| NM_001165963.4(SCN1A):c.5296_5298del (p.Phe1766del) |
deletion |
Early infantile epileptic encephalopathy with suppression bursts [RCV001878430] |
Chr2:165991977..165991979 [GRCh38]
Chr2:166848487..166848489 [GRCh37]
Chr2:2q24.3 |
pathogenic |
| NM_001165963.4(SCN1A):c.4582-9del |
deletion |
Early infantile epileptic encephalopathy with suppression bursts [RCV001932504] |
Chr2:165994425 [GRCh38]
Chr2:166850935 [GRCh37]
Chr2:2q24.3 |
likely benign|uncertain significance |
| NC_000002.11:g.(?_166605291)_(167163604_?)dup |
duplication |
Jeune thoracic dystrophy [RCV001992945] |
Chr2:166605291..167163604 [GRCh37]
Chr2:2q24.3 |
uncertain significance |
| NM_001165963.4(SCN1A):c.3706-12T>G |
single nucleotide variant |
Early infantile epileptic encephalopathy with suppression bursts [RCV001880416] |
Chr2:166012294 [GRCh38]
Chr2:166868804 [GRCh37]
Chr2:2q24.3 |
uncertain significance |
| NM_001165963.4(SCN1A):c.3712G>T (p.Glu1238Ter) |
single nucleotide variant |
Early infantile epileptic encephalopathy with suppression bursts [RCV001975135] |
Chr2:166012276 [GRCh38]
Chr2:166868786 [GRCh37]
Chr2:2q24.3 |
pathogenic |
| NM_001165963.4(SCN1A):c.3688C>T (p.Leu1230Phe) |
single nucleotide variant |
Early infantile epileptic encephalopathy with suppression bursts [RCV001977880] |
Chr2:166013761 [GRCh38]
Chr2:166870271 [GRCh37]
Chr2:2q24.3 |
likely pathogenic |
| NM_001165963.4(SCN1A):c.4117T>G (p.Phe1373Val) |
single nucleotide variant |
Early infantile epileptic encephalopathy with suppression bursts [RCV002032038] |
Chr2:166002639 [GRCh38]
Chr2:166859149 [GRCh37]
Chr2:2q24.3 |
uncertain significance |
| NM_001165963.4(SCN1A):c.4147G>A (p.Asp1383Asn) |
single nucleotide variant |
Early infantile epileptic encephalopathy with suppression bursts [RCV002033486] |
Chr2:166002609 [GRCh38]
Chr2:166859119 [GRCh37]
Chr2:2q24.3 |
uncertain significance |
| NM_001165963.4(SCN1A):c.5187G>T (p.Leu1729Phe) |
single nucleotide variant |
Early infantile epileptic encephalopathy with suppression bursts [RCV001919113] |
Chr2:165992088 [GRCh38]
Chr2:166848598 [GRCh37]
Chr2:2q24.3 |
uncertain significance |
| NM_001165963.4(SCN1A):c.4286C>T (p.Ala1429Val) |
single nucleotide variant |
Early infantile epileptic encephalopathy with suppression bursts [RCV001901322] |
Chr2:165999775 [GRCh38]
Chr2:166856285 [GRCh37]
Chr2:2q24.3 |
likely pathogenic|uncertain significance |
| NM_001165963.4(SCN1A):c.2416-6T>G |
single nucleotide variant |
Early infantile epileptic encephalopathy with suppression bursts [RCV001935412] |
Chr2:166039602 [GRCh38]
Chr2:166896112 [GRCh37]
Chr2:2q24.3 |
uncertain significance |
| NM_001165963.4(SCN1A):c.825T>A (p.Asn275Lys) |
single nucleotide variant |
Early infantile epileptic encephalopathy with suppression bursts [RCV001957134] |
Chr2:166051858 [GRCh38]
Chr2:166908368 [GRCh37]
Chr2:2q24.3 |
uncertain significance |
| NM_001165963.4(SCN1A):c.76G>T (p.Glu26Ter) |
single nucleotide variant |
Early infantile epileptic encephalopathy with suppression bursts [RCV001958443] |
Chr2:166073546 [GRCh38]
Chr2:166930056 [GRCh37]
Chr2:2q24.3 |
pathogenic |
| NM_001165963.4(SCN1A):c.5183G>A (p.Gly1728Glu) |
single nucleotide variant |
Early infantile epileptic encephalopathy with suppression bursts [RCV001972705] |
Chr2:165992092 [GRCh38]
Chr2:166848602 [GRCh37]
Chr2:2q24.3 |
pathogenic |
| NM_001165963.4(SCN1A):c.4002+2393T>C |
single nucleotide variant |
Early infantile epileptic encephalopathy with suppression bursts [RCV002208320] |
Chr2:166007326 [GRCh38]
Chr2:166863836 [GRCh37]
Chr2:2q24.3 |
likely benign |
| NM_001165963.4(SCN1A):c.4002+2374del |
deletion |
Early infantile epileptic encephalopathy with suppression bursts [RCV002128669] |
Chr2:166007345 [GRCh38]
Chr2:166863855 [GRCh37]
Chr2:2q24.3 |
likely benign |
| NM_001165963.4(SCN1A):c.4002+2206T>C |
single nucleotide variant |
Early infantile epileptic encephalopathy with suppression bursts [RCV002130555] |
Chr2:166007513 [GRCh38]
Chr2:166864023 [GRCh37]
Chr2:2q24.3 |
likely benign |
| NM_001165963.4(SCN1A):c.1029-7C>A |
single nucleotide variant |
Early infantile epileptic encephalopathy with suppression bursts [RCV002090260] |
Chr2:166047775 [GRCh38]
Chr2:166904285 [GRCh37]
Chr2:2q24.3 |
likely benign |
| NM_001165963.4(SCN1A):c.648A>G (p.Arg216=) |
single nucleotide variant |
Early infantile epileptic encephalopathy with suppression bursts [RCV002184897] |
Chr2:166052898 [GRCh38]
Chr2:166909408 [GRCh37]
Chr2:2q24.3 |
likely benign |
| NM_001165963.4(SCN1A):c.4002+2458C>T |
single nucleotide variant |
Early infantile epileptic encephalopathy with suppression bursts [RCV002090859] |
Chr2:166007261 [GRCh38]
Chr2:166863771 [GRCh37]
Chr2:2q24.3 |
likely benign |
| NM_001165963.4(SCN1A):c.3550+18A>C |
single nucleotide variant |
Early infantile epileptic encephalopathy with suppression bursts [RCV002108557] |
Chr2:166015589 [GRCh38]
Chr2:166872099 [GRCh37]
Chr2:2q24.3 |
likely benign |
| NM_001165963.4(SCN1A):c.4002+2213C>T |
single nucleotide variant |
Early infantile epileptic encephalopathy with suppression bursts [RCV002125709] |
Chr2:166007506 [GRCh38]
Chr2:166864016 [GRCh37]
Chr2:2q24.3 |
likely benign |
| NM_001165963.4(SCN1A):c.384-8T>A |
single nucleotide variant |
Early infantile epileptic encephalopathy with suppression bursts [RCV002168355] |
Chr2:166056508 [GRCh38]
Chr2:166913018 [GRCh37]
Chr2:2q24.3 |
likely benign |
| NM_001165963.4(SCN1A):c.2007A>G (p.Pro669=) |
single nucleotide variant |
Early infantile epileptic encephalopathy with suppression bursts [RCV002073918]|not provided [RCV003227062] |
Chr2:166043705 [GRCh38]
Chr2:166900215 [GRCh37]
Chr2:2q24.3 |
likely benign|uncertain significance |
| NM_001165963.4(SCN1A):c.141T>C (p.Asn47=) |
single nucleotide variant |
Early infantile epileptic encephalopathy with suppression bursts [RCV002186763] |
Chr2:166073481 [GRCh38]
Chr2:166929991 [GRCh37]
Chr2:2q24.3 |
likely benign |
| NM_001165963.4(SCN1A):c.4002+2372C>T |
single nucleotide variant |
Early infantile epileptic encephalopathy with suppression bursts [RCV002128670] |
Chr2:166007347 [GRCh38]
Chr2:166863857 [GRCh37]
Chr2:2q24.3 |
likely benign |
| NM_001165963.4(SCN1A):c.4002+2561T>C |
single nucleotide variant |
Early infantile epileptic encephalopathy with suppression bursts [RCV002089022] |
Chr2:166007158 [GRCh38]
Chr2:166863668 [GRCh37]
Chr2:2q24.3 |
likely benign |
| NM_001165963.4(SCN1A):c.2589+17A>C |
single nucleotide variant |
Early infantile epileptic encephalopathy with suppression bursts [RCV002166856] |
Chr2:166039406 [GRCh38]
Chr2:166895916 [GRCh37]
Chr2:2q24.3 |
likely benign |
| NM_001165963.4(SCN1A):c.831T>C (p.Cys277=) |
single nucleotide variant |
Early infantile epileptic encephalopathy with suppression bursts [RCV002208312] |
Chr2:166051852 [GRCh38]
Chr2:166908362 [GRCh37]
Chr2:2q24.3 |
likely benign |
| NM_001165963.4(SCN1A):c.4477-11C>T |
single nucleotide variant |
Early infantile epileptic encephalopathy with suppression bursts [RCV002091733] |
Chr2:165996128 [GRCh38]
Chr2:166852638 [GRCh37]
Chr2:2q24.3 |
likely benign |
| NM_001165963.4(SCN1A):c.4503A>C (p.Thr1501=) |
single nucleotide variant |
Early infantile epileptic encephalopathy with suppression bursts [RCV002091532] |
Chr2:165996091 [GRCh38]
Chr2:166852601 [GRCh37]
Chr2:2q24.3 |
likely benign |
| NM_001165963.4(SCN1A):c.66T>C (p.Leu22=) |
single nucleotide variant |
Early infantile epileptic encephalopathy with suppression bursts [RCV002126311] |
Chr2:166073556 [GRCh38]
Chr2:166930066 [GRCh37]
Chr2:2q24.3 |
likely benign |
| NM_001165963.4(SCN1A):c.965-12T>G |
single nucleotide variant |
Early infantile epileptic encephalopathy with suppression bursts [RCV002192956] |
Chr2:166048961 [GRCh38]
Chr2:166905471 [GRCh37]
Chr2:2q24.3 |
likely benign |
| NM_001165963.4(SCN1A):c.1668G>A (p.Leu556=) |
single nucleotide variant |
Early infantile epileptic encephalopathy with suppression bursts [RCV002088399] |
Chr2:166044044 [GRCh38]
Chr2:166900554 [GRCh37]
Chr2:2q24.3 |
likely benign |
| NM_001165963.4(SCN1A):c.1230C>A (p.Gly410=) |
single nucleotide variant |
Early infantile epileptic encephalopathy with suppression bursts [RCV002090325] |
Chr2:166046917 [GRCh38]
Chr2:166903427 [GRCh37]
Chr2:2q24.3 |
likely benign |
| NM_001165963.4(SCN1A):c.4477-7T>G |
single nucleotide variant |
Early infantile epileptic encephalopathy with suppression bursts [RCV002110432] |
Chr2:165996124 [GRCh38]
Chr2:166852634 [GRCh37]
Chr2:2q24.3 |
likely benign |
| NM_001165963.4(SCN1A):c.4002+2577T>A |
single nucleotide variant |
Early infantile epileptic encephalopathy with suppression bursts [RCV002074523] |
Chr2:166007142 [GRCh38]
Chr2:166863652 [GRCh37]
Chr2:2q24.3 |
likely benign |
| NM_001165963.4(SCN1A):c.1512A>G (p.Arg504=) |
single nucleotide variant |
Early infantile epileptic encephalopathy with suppression bursts [RCV002105496] |
Chr2:166045193 [GRCh38]
Chr2:166901703 [GRCh37]
Chr2:2q24.3 |
likely benign |
| NM_001165963.4(SCN1A):c.4002+2361C>T |
single nucleotide variant |
Early infantile epileptic encephalopathy with suppression bursts [RCV002086412] |
Chr2:166007358 [GRCh38]
Chr2:166863868 [GRCh37]
Chr2:2q24.3 |
likely benign |
| NM_001165963.4(SCN1A):c.4002+2199G>C |
single nucleotide variant |
Early infantile epileptic encephalopathy with suppression bursts [RCV002109090] |
Chr2:166007520 [GRCh38]
Chr2:166864030 [GRCh37]
Chr2:2q24.3 |
likely benign |
| NM_001165963.4(SCN1A):c.4002+2360A>G |
single nucleotide variant |
Early infantile epileptic encephalopathy with suppression bursts [RCV002145892] |
Chr2:166007359 [GRCh38]
Chr2:166863869 [GRCh37]
Chr2:2q24.3 |
likely benign |
| NM_001165963.4(SCN1A):c.5594T>C (p.Leu1865Pro) |
single nucleotide variant |
Generalized epilepsy with febrile seizures plus, type 2 [RCV002226569] |
Chr2:165991681 [GRCh38]
Chr2:166848191 [GRCh37]
Chr2:2q24.3 |
uncertain significance |
| NM_001165963.4(SCN1A):c.2733C>A (p.Leu911=) |
single nucleotide variant |
Early infantile epileptic encephalopathy with suppression bursts [RCV002147528] |
Chr2:166037989 [GRCh38]
Chr2:166894499 [GRCh37]
Chr2:2q24.3 |
likely benign |
| NM_001165963.4(SCN1A):c.3429+19G>C |
single nucleotide variant |
Early infantile epileptic encephalopathy with suppression bursts [RCV002088408] |
Chr2:166036029 [GRCh38]
Chr2:166892539 [GRCh37]
Chr2:2q24.3 |
likely benign |
| NM_001165963.4(SCN1A):c.4002+2404T>C |
single nucleotide variant |
Early infantile epileptic encephalopathy with suppression bursts [RCV002167455] |
Chr2:166007315 [GRCh38]
Chr2:166863825 [GRCh37]
Chr2:2q24.3 |
likely benign |
| NM_001165963.4(SCN1A):c.3706-14C>T |
single nucleotide variant |
Early infantile epileptic encephalopathy with suppression bursts [RCV002144733] |
Chr2:166012296 [GRCh38]
Chr2:166868806 [GRCh37]
Chr2:2q24.3 |
likely benign |
| NM_001165963.4(SCN1A):c.4002+2352A>C |
single nucleotide variant |
Early infantile epileptic encephalopathy with suppression bursts [RCV002166601] |
Chr2:166007367 [GRCh38]
Chr2:166863877 [GRCh37]
Chr2:2q24.3 |
likely benign |
| NM_001165963.4(SCN1A):c.4002+1985del |
deletion |
Early infantile epileptic encephalopathy with suppression bursts [RCV002106844] |
Chr2:166007734 [GRCh38]
Chr2:166864244 [GRCh37]
Chr2:2q24.3 |
likely benign |
| NM_001165963.4(SCN1A):c.3834A>G (p.Thr1278=) |
single nucleotide variant |
Early infantile epileptic encephalopathy with suppression bursts [RCV002206681] |
Chr2:166012154 [GRCh38]
Chr2:166868664 [GRCh37]
Chr2:2q24.3 |
likely benign |
| NM_001165963.4(SCN1A):c.4339-12C>G |
single nucleotide variant |
Early infantile epileptic encephalopathy with suppression bursts [RCV002108490] |
Chr2:165998187 [GRCh38]
Chr2:166854697 [GRCh37]
Chr2:2q24.3 |
likely benign |
| NM_001165963.4(SCN1A):c.4002+2305_4002+2312dup |
duplication |
Early infantile epileptic encephalopathy with suppression bursts [RCV002085332] |
Chr2:166007406..166007407 [GRCh38]
Chr2:166863916..166863917 [GRCh37]
Chr2:2q24.3 |
likely benign |
| NM_001165963.4(SCN1A):c.612A>G (p.Thr204=) |
single nucleotide variant |
Early infantile epileptic encephalopathy with suppression bursts [RCV002168604] |
Chr2:166052934 [GRCh38]
Chr2:166909444 [GRCh37]
Chr2:2q24.3 |
likely benign |
| NM_001165963.4(SCN1A):c.4002+2640A>C |
single nucleotide variant |
Early infantile epileptic encephalopathy with suppression bursts [RCV002135126] |
Chr2:166007079 [GRCh38]
Chr2:166863589 [GRCh37]
Chr2:2q24.3 |
likely benign |
| NM_001165963.4(SCN1A):c.4002+2097T>C |
single nucleotide variant |
Early infantile epileptic encephalopathy with suppression bursts [RCV002135127] |
Chr2:166007622 [GRCh38]
Chr2:166864132 [GRCh37]
Chr2:2q24.3 |
likely benign |
| NM_001165963.4(SCN1A):c.4002+2098del |
deletion |
Early infantile epileptic encephalopathy with suppression bursts [RCV002165480] |
Chr2:166007621 [GRCh38]
Chr2:166864131 [GRCh37]
Chr2:2q24.3 |
likely benign |
| NM_001165963.4(SCN1A):c.5598T>C (p.Asp1866=) |
single nucleotide variant |
Early infantile epileptic encephalopathy with suppression bursts [RCV002189659] |
Chr2:165991677 [GRCh38]
Chr2:166848187 [GRCh37]
Chr2:2q24.3 |
likely benign |
| NM_001165963.4(SCN1A):c.4002+2347T>G |
single nucleotide variant |
Early infantile epileptic encephalopathy with suppression bursts [RCV002072670] |
Chr2:166007372 [GRCh38]
Chr2:166863882 [GRCh37]
Chr2:2q24.3 |
likely benign |
| NM_001165963.4(SCN1A):c.4002+1985C>T |
single nucleotide variant |
Early infantile epileptic encephalopathy with suppression bursts [RCV002146022] |
Chr2:166007734 [GRCh38]
Chr2:166864244 [GRCh37]
Chr2:2q24.3 |
benign |
| NM_001165963.4(SCN1A):c.5238T>C (p.Val1746=) |
single nucleotide variant |
Early infantile epileptic encephalopathy with suppression bursts [RCV002095037]|SCN1A-related condition [RCV003978616] |
Chr2:165992037 [GRCh38]
Chr2:166848547 [GRCh37]
Chr2:2q24.3 |
likely benign |
| NM_001165963.4(SCN1A):c.5085T>G (p.Val1695=) |
single nucleotide variant |
Early infantile epileptic encephalopathy with suppression bursts [RCV002096254] |
Chr2:165992190 [GRCh38]
Chr2:166848700 [GRCh37]
Chr2:2q24.3 |
likely benign |
| NM_001165963.4(SCN1A):c.4002+2535T>A |
single nucleotide variant |
Early infantile epileptic encephalopathy with suppression bursts [RCV002116540] |
Chr2:166007184 [GRCh38]
Chr2:166863694 [GRCh37]
Chr2:2q24.3 |
likely benign |
| NM_001165963.4(SCN1A):c.3264T>C (p.Thr1088=) |
single nucleotide variant |
Early infantile epileptic encephalopathy with suppression bursts [RCV002078175] |
Chr2:166036213 [GRCh38]
Chr2:166892723 [GRCh37]
Chr2:2q24.3 |
likely benign |
| NM_001165963.4(SCN1A):c.5788del (p.Leu1930fs) |
deletion |
not provided [RCV002224896] |
Chr2:165991487 [GRCh38]
Chr2:166847997 [GRCh37]
Chr2:2q24.3 |
pathogenic |
| NM_001165963.4(SCN1A):c.1620G>C (p.Gly540=) |
single nucleotide variant |
Early infantile epileptic encephalopathy with suppression bursts [RCV002109640] |
Chr2:166045085 [GRCh38]
Chr2:166901595 [GRCh37]
Chr2:2q24.3 |
likely benign |
| NM_001165963.4(SCN1A):c.4002+2089G>T |
single nucleotide variant |
Early infantile epileptic encephalopathy with suppression bursts [RCV002093927] |
Chr2:166007630 [GRCh38]
Chr2:166864140 [GRCh37]
Chr2:2q24.3 |
likely benign |
| NM_001165963.4(SCN1A):c.4002+2048C>T |
single nucleotide variant |
Early infantile epileptic encephalopathy with suppression bursts [RCV002213623] |
Chr2:166007671 [GRCh38]
Chr2:166864181 [GRCh37]
Chr2:2q24.3 |
likely benign |
| NM_001165963.4(SCN1A):c.4002+2063G>T |
single nucleotide variant |
Early infantile epileptic encephalopathy with suppression bursts [RCV002196874] |
Chr2:166007656 [GRCh38]
Chr2:166864166 [GRCh37]
Chr2:2q24.3 |
likely benign |
| NM_001165963.4(SCN1A):c.5019C>T (p.Ile1673=) |
single nucleotide variant |
Early infantile epileptic encephalopathy with suppression bursts [RCV002146435] |
Chr2:165992256 [GRCh38]
Chr2:166848766 [GRCh37]
Chr2:2q24.3 |
likely benign |
| NM_001165963.4(SCN1A):c.4002+2118C>T |
single nucleotide variant |
Early infantile epileptic encephalopathy with suppression bursts [RCV002205539] |
Chr2:166007601 [GRCh38]
Chr2:166864111 [GRCh37]
Chr2:2q24.3 |
likely benign |
| NM_001165963.4(SCN1A):c.1278C>T (p.Tyr426=) |
single nucleotide variant |
Early infantile epileptic encephalopathy with suppression bursts [RCV002113608] |
Chr2:166046869 [GRCh38]
Chr2:166903379 [GRCh37]
Chr2:2q24.3 |
likely benign |
| NM_001165963.4(SCN1A):c.2589+12_2589+13insC |
insertion |
Early infantile epileptic encephalopathy with suppression bursts [RCV002075527] |
Chr2:166039410..166039411 [GRCh38]
Chr2:166895920..166895921 [GRCh37]
Chr2:2q24.3 |
likely benign |
| NM_001165963.4(SCN1A):c.4852+11T>G |
single nucleotide variant |
Early infantile epileptic encephalopathy with suppression bursts [RCV002151603] |
Chr2:165994135 [GRCh38]
Chr2:166850645 [GRCh37]
Chr2:2q24.3 |
likely benign |
| NM_001165963.4(SCN1A):c.5802T>C (p.Thr1934=) |
single nucleotide variant |
Early infantile epileptic encephalopathy with suppression bursts [RCV002076689] |
Chr2:165991473 [GRCh38]
Chr2:166847983 [GRCh37]
Chr2:2q24.3 |
likely benign |
| NM_001165963.4(SCN1A):c.265-14T>C |
single nucleotide variant |
Early infantile epileptic encephalopathy with suppression bursts [RCV002095185] |
Chr2:166058702 [GRCh38]
Chr2:166915212 [GRCh37]
Chr2:2q24.3 |
likely benign |
| NM_001165963.4(SCN1A):c.4002+2621C>T |
single nucleotide variant |
Early infantile epileptic encephalopathy with suppression bursts [RCV002153584] |
Chr2:166007098 [GRCh38]
Chr2:166863608 [GRCh37]
Chr2:2q24.3 |
likely benign |
| NM_001165963.4(SCN1A):c.2590-24_2590-19del |
microsatellite |
Early infantile epileptic encephalopathy with suppression bursts [RCV002093247] |
Chr2:166038151..166038156 [GRCh38]
Chr2:166894661..166894666 [GRCh37]
Chr2:2q24.3 |
likely benign |
| NM_001165963.4(SCN1A):c.3768C>T (p.Asp1256=) |
single nucleotide variant |
Early infantile epileptic encephalopathy with suppression bursts [RCV002205721] |
Chr2:166012220 [GRCh38]
Chr2:166868730 [GRCh37]
Chr2:2q24.3 |
likely benign |
| NM_001165963.4(SCN1A):c.2160A>G (p.Leu720=) |
single nucleotide variant |
Early infantile epileptic encephalopathy with suppression bursts [RCV002077680] |
Chr2:166042308 [GRCh38]
Chr2:166898818 [GRCh37]
Chr2:2q24.3 |
likely benign |
| NM_001165963.4(SCN1A):c.3550+20T>C |
single nucleotide variant |
Early infantile epileptic encephalopathy with suppression bursts [RCV002085325] |
Chr2:166015587 [GRCh38]
Chr2:166872097 [GRCh37]
Chr2:2q24.3 |
likely benign |
| NM_001165963.4(SCN1A):c.204T>C (p.Ile68=) |
single nucleotide variant |
Early infantile epileptic encephalopathy with suppression bursts [RCV002208847] |
Chr2:166073418 [GRCh38]
Chr2:166929928 [GRCh37]
Chr2:2q24.3 |
likely benign |
| NM_001165963.4(SCN1A):c.5547C>G (p.Leu1849=) |
single nucleotide variant |
Early infantile epileptic encephalopathy with suppression bursts [RCV002085644] |
Chr2:165991728 [GRCh38]
Chr2:166848238 [GRCh37]
Chr2:2q24.3 |
likely benign |
| NM_001165963.4(SCN1A):c.5052C>T (p.Tyr1684=) |
single nucleotide variant |
Early infantile epileptic encephalopathy with suppression bursts [RCV002110317] |
Chr2:165992223 [GRCh38]
Chr2:166848733 [GRCh37]
Chr2:2q24.3 |
likely benign |
| NM_001165963.4(SCN1A):c.3018T>C (p.Asp1006=) |
single nucleotide variant |
Early infantile epileptic encephalopathy with suppression bursts [RCV002170114] |
Chr2:166036459 [GRCh38]
Chr2:166892969 [GRCh37]
Chr2:2q24.3 |
likely benign |
| NM_001165963.4(SCN1A):c.4002+2052A>G |
single nucleotide variant |
Early infantile epileptic encephalopathy with suppression bursts [RCV002215867] |
Chr2:166007667 [GRCh38]
Chr2:166864177 [GRCh37]
Chr2:2q24.3 |
benign |
| NM_001165963.4(SCN1A):c.4433T>A (p.Phe1478Tyr) |
single nucleotide variant |
not provided [RCV002214176] |
Chr2:165998081 [GRCh38]
Chr2:166854591 [GRCh37]
Chr2:2q24.3 |
likely pathogenic |
| NM_001165963.4(SCN1A):c.3885A>G (p.Ser1295=) |
single nucleotide variant |
not provided [RCV002214177] |
Chr2:166009836 [GRCh38]
Chr2:166866346 [GRCh37]
Chr2:2q24.3 |
likely benign |
| NM_001165963.4(SCN1A):c.3324C>T (p.Asn1108=) |
single nucleotide variant |
Early infantile epileptic encephalopathy with suppression bursts [RCV002186224] |
Chr2:166036153 [GRCh38]
Chr2:166892663 [GRCh37]
Chr2:2q24.3 |
likely benign |
| NM_001165963.4(SCN1A):c.4002+2374G>A |
single nucleotide variant |
Early infantile epileptic encephalopathy with suppression bursts [RCV002187834] |
Chr2:166007345 [GRCh38]
Chr2:166863855 [GRCh37]
Chr2:2q24.3 |
likely benign |
| NM_001165963.4(SCN1A):c.1170+9T>C |
single nucleotide variant |
Early infantile epileptic encephalopathy with suppression bursts [RCV002148976] |
Chr2:166047618 [GRCh38]
Chr2:166904128 [GRCh37]
Chr2:2q24.3 |
likely benign |
| NM_001165963.4(SCN1A):c.447C>T (p.Asn149=) |
single nucleotide variant |
Early infantile epileptic encephalopathy with suppression bursts [RCV002133600] |
Chr2:166056437 [GRCh38]
Chr2:166912947 [GRCh37]
Chr2:2q24.3 |
likely benign |
| NM_001165963.4(SCN1A):c.3342T>G (p.Thr1114=) |
single nucleotide variant |
Early infantile epileptic encephalopathy with suppression bursts [RCV002189345] |
Chr2:166036135 [GRCh38]
Chr2:166892645 [GRCh37]
Chr2:2q24.3 |
likely benign |
| NM_001165963.4(SCN1A):c.694+18T>C |
single nucleotide variant |
Early infantile epileptic encephalopathy with suppression bursts [RCV002168394] |
Chr2:166052834 [GRCh38]
Chr2:166909344 [GRCh37]
Chr2:2q24.3 |
likely benign |
| NM_001165963.4(SCN1A):c.3429+14G>C |
single nucleotide variant |
Early infantile epileptic encephalopathy with suppression bursts [RCV002076550] |
Chr2:166036034 [GRCh38]
Chr2:166892544 [GRCh37]
Chr2:2q24.3 |
likely benign |
| NM_001165963.4(SCN1A):c.2796G>C (p.Trp932Cys) |
single nucleotide variant |
not provided [RCV002214178] |
Chr2:166037926 [GRCh38]
Chr2:166894436 [GRCh37]
Chr2:2q24.3 |
likely pathogenic |
| NM_001165963.4(SCN1A):c.1341G>A (p.Met447Ile) |
single nucleotide variant |
not provided [RCV002214179] |
Chr2:166046806 [GRCh38]
Chr2:166903316 [GRCh37]
Chr2:2q24.3 |
uncertain significance |
| NM_001165963.4(SCN1A):c.2043+20T>A |
single nucleotide variant |
Early infantile epileptic encephalopathy with suppression bursts [RCV002152225] |
Chr2:166043649 [GRCh38]
Chr2:166900159 [GRCh37]
Chr2:2q24.3 |
likely benign |
| NM_001165963.4(SCN1A):c.4002+2121A>G |
single nucleotide variant |
Early infantile epileptic encephalopathy with suppression bursts [RCV002116373] |
Chr2:166007598 [GRCh38]
Chr2:166864108 [GRCh37]
Chr2:2q24.3 |
likely benign |
| NM_001165963.4(SCN1A):c.4002+2407A>G |
single nucleotide variant |
Early infantile epileptic encephalopathy with suppression bursts [RCV002079947] |
Chr2:166007312 [GRCh38]
Chr2:166863822 [GRCh37]
Chr2:2q24.3 |
likely benign |
| NM_001165963.4(SCN1A):c.837A>G (p.Gln279=) |
single nucleotide variant |
Early infantile epileptic encephalopathy with suppression bursts [RCV002170328] |
Chr2:166051846 [GRCh38]
Chr2:166908356 [GRCh37]
Chr2:2q24.3 |
likely benign |
| NM_001165963.4(SCN1A):c.312C>A (p.Ala104=) |
single nucleotide variant |
Early infantile epileptic encephalopathy with suppression bursts [RCV002130549] |
Chr2:166058641 [GRCh38]
Chr2:166915151 [GRCh37]
Chr2:2q24.3 |
likely benign |
| NM_001165963.4(SCN1A):c.4002+2088C>T |
single nucleotide variant |
Early infantile epileptic encephalopathy with suppression bursts [RCV002115793] |
Chr2:166007631 [GRCh38]
Chr2:166864141 [GRCh37]
Chr2:2q24.3 |
benign |
| NM_001165963.4(SCN1A):c.4002+2349A>T |
single nucleotide variant |
Early infantile epileptic encephalopathy with suppression bursts [RCV002206425] |
Chr2:166007370 [GRCh38]
Chr2:166863880 [GRCh37]
Chr2:2q24.3 |
likely benign |
| NM_001165963.4(SCN1A):c.3978C>T (p.Ala1326=) |
single nucleotide variant |
Early infantile epileptic encephalopathy with suppression bursts [RCV002115239] |
Chr2:166009743 [GRCh38]
Chr2:166866253 [GRCh37]
Chr2:2q24.3 |
likely benign |
| NM_001165963.4(SCN1A):c.5218G>T (p.Asp1740Tyr) |
single nucleotide variant |
Early infantile epileptic encephalopathy with suppression bursts [RCV003093846]|not provided [RCV002214175] |
Chr2:165992057 [GRCh38]
Chr2:166848567 [GRCh37]
Chr2:2q24.3 |
likely pathogenic|uncertain significance |
| NM_001165963.4(SCN1A):c.2970G>A (p.Leu990=) |
single nucleotide variant |
Early infantile epileptic encephalopathy with suppression bursts [RCV002091398] |
Chr2:166036507 [GRCh38]
Chr2:166893017 [GRCh37]
Chr2:2q24.3 |
likely benign |
| NM_001165963.4(SCN1A):c.4853-13del |
deletion |
Early infantile epileptic encephalopathy with suppression bursts [RCV002173694] |
Chr2:165992435 [GRCh38]
Chr2:166848945 [GRCh37]
Chr2:2q24.3 |
likely benign |
| NM_001165963.4(SCN1A):c.4581+7A>G |
single nucleotide variant |
Early infantile epileptic encephalopathy with suppression bursts [RCV002205502] |
Chr2:165996006 [GRCh38]
Chr2:166852516 [GRCh37]
Chr2:2q24.3 |
likely benign |
| NM_001165963.4(SCN1A):c.4002+2203G>A |
single nucleotide variant |
Early infantile epileptic encephalopathy with suppression bursts [RCV002134472] |
Chr2:166007516 [GRCh38]
Chr2:166864026 [GRCh37]
Chr2:2q24.3 |
likely benign |
| NM_001165963.4(SCN1A):c.5100G>A (p.Gly1700=) |
single nucleotide variant |
Early infantile epileptic encephalopathy with suppression bursts [RCV002107070] |
Chr2:165992175 [GRCh38]
Chr2:166848685 [GRCh37]
Chr2:2q24.3 |
likely benign |
| NM_001165963.4(SCN1A):c.4002+2023A>G |
single nucleotide variant |
Early infantile epileptic encephalopathy with suppression bursts [RCV002169430] |
Chr2:166007696 [GRCh38]
Chr2:166864206 [GRCh37]
Chr2:2q24.3 |
likely benign |
| NM_001165963.4(SCN1A):c.2415+19A>C |
single nucleotide variant |
Early infantile epileptic encephalopathy with suppression bursts [RCV002151260] |
Chr2:166041212 [GRCh38]
Chr2:166897722 [GRCh37]
Chr2:2q24.3 |
likely benign |
| NM_001165963.4(SCN1A):c.4002+2439C>A |
single nucleotide variant |
Early infantile epileptic encephalopathy with suppression bursts [RCV002170827] |
Chr2:166007280 [GRCh38]
Chr2:166863790 [GRCh37]
Chr2:2q24.3 |
likely benign |
| NM_001165963.4(SCN1A):c.180C>T (p.Asn60=) |
single nucleotide variant |
Early infantile epileptic encephalopathy with suppression bursts [RCV002073779] |
Chr2:166073442 [GRCh38]
Chr2:166929952 [GRCh37]
Chr2:2q24.3 |
likely benign |
| NM_001165963.4(SCN1A):c.3195T>C (p.His1065=) |
single nucleotide variant |
Early infantile epileptic encephalopathy with suppression bursts [RCV002113662] |
Chr2:166036282 [GRCh38]
Chr2:166892792 [GRCh37]
Chr2:2q24.3 |
likely benign |
| NM_001165963.4(SCN1A):c.4002+2540T>C |
single nucleotide variant |
Early infantile epileptic encephalopathy with suppression bursts [RCV002151336] |
Chr2:166007179 [GRCh38]
Chr2:166863689 [GRCh37]
Chr2:2q24.3 |
likely benign |
| NM_001165963.4(SCN1A):c.4003-18T>C |
single nucleotide variant |
Early infantile epileptic encephalopathy with suppression bursts [RCV002080315] |
Chr2:166002771 [GRCh38]
Chr2:166859281 [GRCh37]
Chr2:2q24.3 |
likely benign |
| NM_001165963.4(SCN1A):c.4002+2436C>T |
single nucleotide variant |
Early infantile epileptic encephalopathy with suppression bursts [RCV002212944] |
Chr2:166007283 [GRCh38]
Chr2:166863793 [GRCh37]
Chr2:2q24.3 |
likely benign |
| NM_001165963.4(SCN1A):c.3435G>A (p.Leu1145=) |
single nucleotide variant |
Early infantile epileptic encephalopathy with suppression bursts [RCV002080596] |
Chr2:166015722 [GRCh38]
Chr2:166872232 [GRCh37]
Chr2:2q24.3 |
likely benign |
| NM_001165963.4(SCN1A):c.2145T>C (p.Ser715=) |
single nucleotide variant |
Early infantile epileptic encephalopathy with suppression bursts [RCV002213544] |
Chr2:166042323 [GRCh38]
Chr2:166898833 [GRCh37]
Chr2:2q24.3 |
likely benign |
| NM_001165963.4(SCN1A):c.4002+19C>T |
single nucleotide variant |
Early infantile epileptic encephalopathy with suppression bursts [RCV002131289] |
Chr2:166009700 [GRCh38]
Chr2:166866210 [GRCh37]
Chr2:2q24.3 |
likely benign |
| NM_001165963.4(SCN1A):c.2670G>C (p.Leu890=) |
single nucleotide variant |
Early infantile epileptic encephalopathy with suppression bursts [RCV002092396] |
Chr2:166038052 [GRCh38]
Chr2:166894562 [GRCh37]
Chr2:2q24.3 |
likely benign |
| NM_001165963.4(SCN1A):c.5028A>G (p.Leu1676=) |
single nucleotide variant |
Early infantile epileptic encephalopathy with suppression bursts [RCV002150339] |
Chr2:165992247 [GRCh38]
Chr2:166848757 [GRCh37]
Chr2:2q24.3 |
likely benign |
| NM_001165963.4(SCN1A):c.4143T>G (p.Thr1381=) |
single nucleotide variant |
Early infantile epileptic encephalopathy with suppression bursts [RCV002132971]|SCN1A-related condition [RCV003958838] |
Chr2:166002613 [GRCh38]
Chr2:166859123 [GRCh37]
Chr2:2q24.3 |
likely benign |
| NM_001165963.4(SCN1A):c.4002+2430_4002+2432dup |
duplication |
Early infantile epileptic encephalopathy with suppression bursts [RCV002089252] |
Chr2:166007286..166007287 [GRCh38]
Chr2:166863796..166863797 [GRCh37]
Chr2:2q24.3 |
likely benign |
| NM_001165963.4(SCN1A):c.2589+18_2589+20del |
deletion |
Early infantile epileptic encephalopathy with suppression bursts [RCV002151534] |
Chr2:166039403..166039405 [GRCh38]
Chr2:166895913..166895915 [GRCh37]
Chr2:2q24.3 |
likely benign |
| NM_001165963.4(SCN1A):c.4452T>C (p.Asp1484=) |
single nucleotide variant |
Early infantile epileptic encephalopathy with suppression bursts [RCV002203138] |
Chr2:165998062 [GRCh38]
Chr2:166854572 [GRCh37]
Chr2:2q24.3 |
likely benign |
| NM_001165963.4(SCN1A):c.4002+2084A>G |
single nucleotide variant |
Early infantile epileptic encephalopathy with suppression bursts [RCV002155718] |
Chr2:166007635 [GRCh38]
Chr2:166864145 [GRCh37]
Chr2:2q24.3 |
likely benign |
| NM_001165963.4(SCN1A):c.4002+2623T>C |
single nucleotide variant |
Early infantile epileptic encephalopathy with suppression bursts [RCV002153934] |
Chr2:166007096 [GRCh38]
Chr2:166863606 [GRCh37]
Chr2:2q24.3 |
likely benign |
| NM_001165963.4(SCN1A):c.1377+16C>T |
single nucleotide variant |
Early infantile epileptic encephalopathy with suppression bursts [RCV002081339] |
Chr2:166046754 [GRCh38]
Chr2:166903264 [GRCh37]
Chr2:2q24.3 |
likely benign |
| NM_001165963.4(SCN1A):c.1314A>G (p.Glu438=) |
single nucleotide variant |
Early infantile epileptic encephalopathy with suppression bursts [RCV002216671] |
Chr2:166046833 [GRCh38]
Chr2:166903343 [GRCh37]
Chr2:2q24.3 |
likely benign |
| NM_001165963.4(SCN1A):c.4002+2267C>T |
single nucleotide variant |
Early infantile epileptic encephalopathy with suppression bursts [RCV002135723] |
Chr2:166007452 [GRCh38]
Chr2:166863962 [GRCh37]
Chr2:2q24.3 |
likely benign |
| NM_001165963.4(SCN1A):c.4002+2261A>C |
single nucleotide variant |
Early infantile epileptic encephalopathy with suppression bursts [RCV002154339] |
Chr2:166007458 [GRCh38]
Chr2:166863968 [GRCh37]
Chr2:2q24.3 |
benign |
| NM_001165963.4(SCN1A):c.4002+2320G>A |
single nucleotide variant |
Early infantile epileptic encephalopathy with suppression bursts [RCV002158466] |
Chr2:166007399 [GRCh38]
Chr2:166863909 [GRCh37]
Chr2:2q24.3 |
likely benign |
| NM_001165963.4(SCN1A):c.4002+2098T>C |
single nucleotide variant |
Early infantile epileptic encephalopathy with suppression bursts [RCV002181543] |
Chr2:166007621 [GRCh38]
Chr2:166864131 [GRCh37]
Chr2:2q24.3 |
likely benign |
| NM_001165963.4(SCN1A):c.2392A>G (p.Asn798Asp) |
single nucleotide variant |
not specified [RCV002248181] |
Chr2:166041254 [GRCh38]
Chr2:166897764 [GRCh37]
Chr2:2q24.3 |
uncertain significance |
| NM_001165963.4(SCN1A):c.4002+2247A>C |
single nucleotide variant |
Early infantile epileptic encephalopathy with suppression bursts [RCV002198584] |
Chr2:166007472 [GRCh38]
Chr2:166863982 [GRCh37]
Chr2:2q24.3 |
likely benign |
| NM_001165963.4(SCN1A):c.4020T>C (p.Leu1340=) |
single nucleotide variant |
Early infantile epileptic encephalopathy with suppression bursts [RCV002082139] |
Chr2:166002736 [GRCh38]
Chr2:166859246 [GRCh37]
Chr2:2q24.3 |
likely benign |
| NM_001165963.4(SCN1A):c.4650C>T (p.Leu1550=) |
single nucleotide variant |
Early infantile epileptic encephalopathy with suppression bursts [RCV002219529] |
Chr2:165994348 [GRCh38]
Chr2:166850858 [GRCh37]
Chr2:2q24.3 |
likely benign |
| NM_001165963.4(SCN1A):c.1378-18C>A |
single nucleotide variant |
Early infantile epileptic encephalopathy with suppression bursts [RCV002160595] |
Chr2:166045345 [GRCh38]
Chr2:166901855 [GRCh37]
Chr2:2q24.3 |
likely benign |
| NM_001165963.4(SCN1A):c.4002+2151T>C |
single nucleotide variant |
Early infantile epileptic encephalopathy with suppression bursts [RCV002176246] |
Chr2:166007568 [GRCh38]
Chr2:166864078 [GRCh37]
Chr2:2q24.3 |
likely benign |
| NM_001165963.4(SCN1A):c.3345A>T (p.Val1115=) |
single nucleotide variant |
Early infantile epileptic encephalopathy with suppression bursts [RCV002155030] |
Chr2:166036132 [GRCh38]
Chr2:166892642 [GRCh37]
Chr2:2q24.3 |
likely benign |
| NM_001165963.4(SCN1A):c.1248T>C (p.Asn416=) |
single nucleotide variant |
Early infantile epileptic encephalopathy with suppression bursts [RCV002084352] |
Chr2:166046899 [GRCh38]
Chr2:166903409 [GRCh37]
Chr2:2q24.3 |
likely benign |
| NM_001165963.4(SCN1A):c.383+13A>T |
single nucleotide variant |
Early infantile epileptic encephalopathy with suppression bursts [RCV002158816] |
Chr2:166058557 [GRCh38]
Chr2:166915067 [GRCh37]
Chr2:2q24.3 |
likely benign |
| NM_001165963.4(SCN1A):c.473+11C>T |
single nucleotide variant |
Early infantile epileptic encephalopathy with suppression bursts [RCV002178693] |
Chr2:166056400 [GRCh38]
Chr2:166912910 [GRCh37]
Chr2:2q24.3 |
likely benign |
| NM_001165963.4(SCN1A):c.4003-7G>A |
single nucleotide variant |
Early infantile epileptic encephalopathy with suppression bursts [RCV002184417] |
Chr2:166002760 [GRCh38]
Chr2:166859270 [GRCh37]
Chr2:2q24.3 |
likely benign |
| NM_001165963.4(SCN1A):c.473+14A>G |
single nucleotide variant |
Early infantile epileptic encephalopathy with suppression bursts [RCV002137028] |
Chr2:166056397 [GRCh38]
Chr2:166912907 [GRCh37]
Chr2:2q24.3 |
likely benign |
| NM_001165963.4(SCN1A):c.4002+2381C>T |
single nucleotide variant |
Early infantile epileptic encephalopathy with suppression bursts [RCV002155776] |
Chr2:166007338 [GRCh38]
Chr2:166863848 [GRCh37]
Chr2:2q24.3 |
likely benign |
| NM_001165963.4(SCN1A):c.2779T>C (p.Cys927Arg) |
single nucleotide variant |
Early infantile epileptic encephalopathy with suppression bursts [RCV003588784]|Generalized epilepsy with febrile seizures plus, type 2 [RCV002250316] |
Chr2:166037943 [GRCh38]
Chr2:166894453 [GRCh37]
Chr2:2q24.3 |
pathogenic|likely pathogenic |
| NM_001165963.4(SCN1A):c.1969_1975del (p.Pro657fs) |
deletion |
Generalized epilepsy with febrile seizures plus, type 2 [RCV002250320] |
Chr2:166043737..166043743 [GRCh38]
Chr2:166900247..166900253 [GRCh37]
Chr2:2q24.3 |
pathogenic |
| NM_001165963.4(SCN1A):c.1019C>A (p.Ser340Tyr) |
single nucleotide variant |
Generalized epilepsy with febrile seizures plus, type 2 [RCV002250323] |
Chr2:166048895 [GRCh38]
Chr2:166905405 [GRCh37]
Chr2:2q24.3 |
pathogenic |
| NM_001165963.4(SCN1A):c.929_930del (p.Val309_Phe310insTer) |
deletion |
Generalized epilepsy with febrile seizures plus, type 2 [RCV002250324] |
Chr2:166051753..166051754 [GRCh38]
Chr2:166908263..166908264 [GRCh37]
Chr2:2q24.3 |
pathogenic |
| NM_001165963.4(SCN1A):c.1663-17C>T |
single nucleotide variant |
Early infantile epileptic encephalopathy with suppression bursts [RCV002123364] |
Chr2:166044066 [GRCh38]
Chr2:166900576 [GRCh37]
Chr2:2q24.3 |
likely benign |
| NM_001165963.4(SCN1A):c.4002+2053T>C |
single nucleotide variant |
Early infantile epileptic encephalopathy with suppression bursts [RCV002135462] |
Chr2:166007666 [GRCh38]
Chr2:166864176 [GRCh37]
Chr2:2q24.3 |
likely benign |
| NM_001165963.4(SCN1A):c.4002+2510C>T |
single nucleotide variant |
Early infantile epileptic encephalopathy with suppression bursts [RCV002177207] |
Chr2:166007209 [GRCh38]
Chr2:166863719 [GRCh37]
Chr2:2q24.3 |
likely benign |
| NM_001165963.4(SCN1A):c.4002+2150T>A |
single nucleotide variant |
Early infantile epileptic encephalopathy with suppression bursts [RCV002102106] |
Chr2:166007569 [GRCh38]
Chr2:166864079 [GRCh37]
Chr2:2q24.3 |
likely benign |
| NM_001165963.4(SCN1A):c.2658C>T (p.Ser886=) |
single nucleotide variant |
Early infantile epileptic encephalopathy with suppression bursts [RCV002183240] |
Chr2:166038064 [GRCh38]
Chr2:166894574 [GRCh37]
Chr2:2q24.3 |
likely benign |
| NM_001165963.4(SCN1A):c.264+8T>G |
single nucleotide variant |
Early infantile epileptic encephalopathy with suppression bursts [RCV002198348] |
Chr2:166073350 [GRCh38]
Chr2:166929860 [GRCh37]
Chr2:2q24.3 |
likely benign |
| NM_001165963.4(SCN1A):c.1303del (p.Glu435fs) |
deletion |
Severe myoclonic epilepsy in infancy [RCV002243592]|not provided [RCV003886571] |
Chr2:166046844 [GRCh38]
Chr2:166903354 [GRCh37]
Chr2:2q24.3 |
pathogenic|likely pathogenic |
| NM_001165963.4(SCN1A):c.38G>T (p.Ser13Ile) |
single nucleotide variant |
Severe myoclonic epilepsy in infancy [RCV002243593] |
Chr2:166073584 [GRCh38]
Chr2:166930094 [GRCh37]
Chr2:2q24.3 |
uncertain significance |
| NM_001165963.4(SCN1A):c.4002+2370T>C |
single nucleotide variant |
Early infantile epileptic encephalopathy with suppression bursts [RCV002082549] |
Chr2:166007349 [GRCh38]
Chr2:166863859 [GRCh37]
Chr2:2q24.3 |
likely benign |
| NM_001165963.4(SCN1A):c.1872G>A (p.Gln624=) |
single nucleotide variant |
Early infantile epileptic encephalopathy with suppression bursts [RCV002084413] |
Chr2:166043840 [GRCh38]
Chr2:166900350 [GRCh37]
Chr2:2q24.3 |
likely benign |
| NM_001165963.4(SCN1A):c.4002+2076_4002+2079del |
microsatellite |
Early infantile epileptic encephalopathy with suppression bursts [RCV002162677] |
Chr2:166007640..166007643 [GRCh38]
Chr2:166864150..166864153 [GRCh37]
Chr2:2q24.3 |
likely benign |
| NM_001165963.4(SCN1A):c.4002+2336G>A |
single nucleotide variant |
Early infantile epileptic encephalopathy with suppression bursts [RCV002140490] |
Chr2:166007383 [GRCh38]
Chr2:166863893 [GRCh37]
Chr2:2q24.3 |
likely benign |
| NM_001165963.4(SCN1A):c.603-23TG[3] |
microsatellite |
Early infantile epileptic encephalopathy with suppression bursts [RCV002218067] |
Chr2:166052959..166052960 [GRCh38]
Chr2:166909469..166909470 [GRCh37]
Chr2:2q24.3 |
likely benign |
| NM_001165963.4(SCN1A):c.384-15T>C |
single nucleotide variant |
Early infantile epileptic encephalopathy with suppression bursts [RCV002119237] |
Chr2:166056515 [GRCh38]
Chr2:166913025 [GRCh37]
Chr2:2q24.3 |
likely benign |
| NM_001165963.4(SCN1A):c.4749A>T (p.Leu1583=) |
single nucleotide variant |
Early infantile epileptic encephalopathy with suppression bursts [RCV002155977] |
Chr2:165994249 [GRCh38]
Chr2:166850759 [GRCh37]
Chr2:2q24.3 |
likely benign |
| NM_001165963.4(SCN1A):c.4002+2062A>G |
single nucleotide variant |
Early infantile epileptic encephalopathy with suppression bursts [RCV002203064] |
Chr2:166007657 [GRCh38]
Chr2:166864167 [GRCh37]
Chr2:2q24.3 |
likely benign |
| NM_001165963.4(SCN1A):c.4338+19C>T |
single nucleotide variant |
Early infantile epileptic encephalopathy with suppression bursts [RCV002159339] |
Chr2:165999704 [GRCh38]
Chr2:166856214 [GRCh37]
Chr2:2q24.3 |
likely benign |
| NM_001165963.4(SCN1A):c.945G>A (p.Lys315=) |
single nucleotide variant |
Early infantile epileptic encephalopathy with suppression bursts [RCV002175460] |
Chr2:166051738 [GRCh38]
Chr2:166908248 [GRCh37]
Chr2:2q24.3 |
likely benign |
| NM_001165963.4(SCN1A):c.384-19T>C |
single nucleotide variant |
Early infantile epileptic encephalopathy with suppression bursts [RCV002163154] |
Chr2:166056519 [GRCh38]
Chr2:166913029 [GRCh37]
Chr2:2q24.3 |
likely benign |
| NM_001165963.4(SCN1A):c.4002+2112T>C |
single nucleotide variant |
Early infantile epileptic encephalopathy with suppression bursts [RCV002163160] |
Chr2:166007607 [GRCh38]
Chr2:166864117 [GRCh37]
Chr2:2q24.3 |
likely benign |
| NM_001165963.4(SCN1A):c.4852+17G>A |
single nucleotide variant |
Early infantile epileptic encephalopathy with suppression bursts [RCV002184691] |
Chr2:165994129 [GRCh38]
Chr2:166850639 [GRCh37]
Chr2:2q24.3 |
likely benign |
| NM_001165963.4(SCN1A):c.3462T>C (p.Gly1154=) |
single nucleotide variant |
Early infantile epileptic encephalopathy with suppression bursts [RCV002216977] |
Chr2:166015695 [GRCh38]
Chr2:166872205 [GRCh37]
Chr2:2q24.3 |
likely benign |
| NM_001165963.4(SCN1A):c.3961C>T (p.Leu1321=) |
single nucleotide variant |
Early infantile epileptic encephalopathy with suppression bursts [RCV002180986] |
Chr2:166009760 [GRCh38]
Chr2:166866270 [GRCh37]
Chr2:2q24.3 |
likely benign |
| NM_001165963.4(SCN1A):c.2976G>T (p.Leu992=) |
single nucleotide variant |
Early infantile epileptic encephalopathy with suppression bursts [RCV002161742] |
Chr2:166036501 [GRCh38]
Chr2:166893011 [GRCh37]
Chr2:2q24.3 |
likely benign |
| NM_001165963.4(SCN1A):c.1500G>C (p.Arg500=) |
single nucleotide variant |
Early infantile epileptic encephalopathy with suppression bursts [RCV002139872] |
Chr2:166045205 [GRCh38]
Chr2:166901715 [GRCh37]
Chr2:2q24.3 |
likely benign |
| NM_001165963.4(SCN1A):c.2551A>G (p.Asn851Asp) |
single nucleotide variant |
Early infantile epileptic encephalopathy with suppression bursts [RCV002123698] |
Chr2:166039461 [GRCh38]
Chr2:166895971 [GRCh37]
Chr2:2q24.3 |
likely benign |
| NM_001165963.4(SCN1A):c.2589+17_2589+18insAAC |
insertion |
Early infantile epileptic encephalopathy with suppression bursts [RCV002138531] |
Chr2:166039405..166039406 [GRCh38]
Chr2:166895915..166895916 [GRCh37]
Chr2:2q24.3 |
likely benign |
| NM_001165963.4(SCN1A):c.5820T>C (p.Phe1940=) |
single nucleotide variant |
Early infantile epileptic encephalopathy with suppression bursts [RCV002158623] |
Chr2:165991455 [GRCh38]
Chr2:166847965 [GRCh37]
Chr2:2q24.3 |
likely benign |
| NM_001165963.4(SCN1A):c.3609A>G (p.Gln1203=) |
single nucleotide variant |
Early infantile epileptic encephalopathy with suppression bursts [RCV002084438] |
Chr2:166013840 [GRCh38]
Chr2:166870350 [GRCh37]
Chr2:2q24.3 |
likely benign |
| NM_001165963.4(SCN1A):c.2177-14T>C |
single nucleotide variant |
Early infantile epileptic encephalopathy with suppression bursts [RCV002178444] |
Chr2:166041483 [GRCh38]
Chr2:166897993 [GRCh37]
Chr2:2q24.3 |
likely benign |
| NM_001165963.4(SCN1A):c.4002+2057_4002+2059del |
microsatellite |
Early infantile epileptic encephalopathy with suppression bursts [RCV002199161] |
Chr2:166007660..166007662 [GRCh38]
Chr2:166864170..166864172 [GRCh37]
Chr2:2q24.3 |
likely benign |
| NM_001165963.4(SCN1A):c.366T>C (p.Ile122=) |
single nucleotide variant |
Early infantile epileptic encephalopathy with suppression bursts [RCV002118958] |
Chr2:166058587 [GRCh38]
Chr2:166915097 [GRCh37]
Chr2:2q24.3 |
likely benign |
| NM_001165963.4(SCN1A):c.2364G>A (p.Glu788=) |
single nucleotide variant |
Early infantile epileptic encephalopathy with suppression bursts [RCV002157303] |
Chr2:166041282 [GRCh38]
Chr2:166897792 [GRCh37]
Chr2:2q24.3 |
likely benign |
| NM_001165963.4(SCN1A):c.1029-11C>G |
single nucleotide variant |
Early infantile epileptic encephalopathy with suppression bursts [RCV002155443]|not provided [RCV003120825] |
Chr2:166047779 [GRCh38]
Chr2:166904289 [GRCh37]
Chr2:2q24.3 |
likely benign |
| NM_001165963.4(SCN1A):c.4002+2568G>A |
single nucleotide variant |
Early infantile epileptic encephalopathy with suppression bursts [RCV002138799] |
Chr2:166007151 [GRCh38]
Chr2:166863661 [GRCh37]
Chr2:2q24.3 |
likely benign |
| NM_001165963.4(SCN1A):c.4002+1965C>T |
single nucleotide variant |
Early infantile epileptic encephalopathy with suppression bursts [RCV002099630] |
Chr2:166007754 [GRCh38]
Chr2:166864264 [GRCh37]
Chr2:2q24.3 |
likely benign |
| NM_001165963.4(SCN1A):c.5560T>C (p.Leu1854=) |
single nucleotide variant |
Early infantile epileptic encephalopathy with suppression bursts [RCV002203417] |
Chr2:165991715 [GRCh38]
Chr2:166848225 [GRCh37]
Chr2:2q24.3 |
likely benign |
| NM_001165963.4(SCN1A):c.5502G>A (p.Ala1834=) |
single nucleotide variant |
Early infantile epileptic encephalopathy with suppression bursts [RCV002203465]|not provided [RCV003886569] |
Chr2:165991773 [GRCh38]
Chr2:166848283 [GRCh37]
Chr2:2q24.3 |
likely benign |
| NM_001165963.4(SCN1A):c.1240C>T (p.Leu414=) |
single nucleotide variant |
Early infantile epileptic encephalopathy with suppression bursts [RCV002081493] |
Chr2:166046907 [GRCh38]
Chr2:166903417 [GRCh37]
Chr2:2q24.3 |
likely benign |
| NM_001165963.4(SCN1A):c.603-6T>C |
single nucleotide variant |
Early infantile epileptic encephalopathy with suppression bursts [RCV002183196] |
Chr2:166052949 [GRCh38]
Chr2:166909459 [GRCh37]
Chr2:2q24.3 |
likely benign |
| NM_001165963.4(SCN1A):c.4582-11T>C |
single nucleotide variant |
Early infantile epileptic encephalopathy with suppression bursts [RCV002083637] |
Chr2:165994427 [GRCh38]
Chr2:166850937 [GRCh37]
Chr2:2q24.3 |
likely benign |
| NM_001165963.4(SCN1A):c.2841G>A (p.Val947=) |
single nucleotide variant |
Early infantile epileptic encephalopathy with suppression bursts [RCV002139780] |
Chr2:166037881 [GRCh38]
Chr2:166894391 [GRCh37]
Chr2:2q24.3 |
likely benign |
| NM_001165963.4(SCN1A):c.4002+2579T>A |
single nucleotide variant |
Early infantile epileptic encephalopathy with suppression bursts [RCV002162166] |
Chr2:166007140 [GRCh38]
Chr2:166863650 [GRCh37]
Chr2:2q24.3 |
likely benign |
| NM_001165963.4(SCN1A):c.4848T>C (p.Ile1616=) |
single nucleotide variant |
Early infantile epileptic encephalopathy with suppression bursts [RCV002177878]|Inborn genetic diseases [RCV002337208]|not provided [RCV003138070] |
Chr2:165994150 [GRCh38]
Chr2:166850660 [GRCh37]
Chr2:2q24.3 |
likely benign|uncertain significance |
| NM_001165963.4(SCN1A):c.4659T>G (p.Leu1553=) |
single nucleotide variant |
Early infantile epileptic encephalopathy with suppression bursts [RCV002183692] |
Chr2:165994339 [GRCh38]
Chr2:166850849 [GRCh37]
Chr2:2q24.3 |
likely benign |
| NM_001165963.4(SCN1A):c.2757T>C (p.Cys919=) |
single nucleotide variant |
Early infantile epileptic encephalopathy with suppression bursts [RCV002202212] |
Chr2:166037965 [GRCh38]
Chr2:166894475 [GRCh37]
Chr2:2q24.3 |
likely benign |
| NM_001165963.4(SCN1A):c.4896T>C (p.Pro1632=) |
single nucleotide variant |
Early infantile epileptic encephalopathy with suppression bursts [RCV002156839] |
Chr2:165992379 [GRCh38]
Chr2:166848889 [GRCh37]
Chr2:2q24.3 |
likely benign |
| NM_001165963.4(SCN1A):c.1029-15T>C |
single nucleotide variant |
Early infantile epileptic encephalopathy with suppression bursts [RCV002138338] |
Chr2:166047783 [GRCh38]
Chr2:166904293 [GRCh37]
Chr2:2q24.3 |
likely benign |
| NM_001165963.4(SCN1A):c.4002+2494T>C |
single nucleotide variant |
Early infantile epileptic encephalopathy with suppression bursts [RCV002203830] |
Chr2:166007225 [GRCh38]
Chr2:166863735 [GRCh37]
Chr2:2q24.3 |
likely benign |
| NM_001165963.4(SCN1A):c.4002+2214G>A |
single nucleotide variant |
Early infantile epileptic encephalopathy with suppression bursts [RCV002204018] |
Chr2:166007505 [GRCh38]
Chr2:166864015 [GRCh37]
Chr2:2q24.3 |
likely benign |
| NM_001165963.4(SCN1A):c.2412C>T (p.Asn804=) |
single nucleotide variant |
Early infantile epileptic encephalopathy with suppression bursts [RCV002200707] |
Chr2:166041234 [GRCh38]
Chr2:166897744 [GRCh37]
Chr2:2q24.3 |
likely benign |
| NM_001165963.4(SCN1A):c.5451C>T (p.Pro1817=) |
single nucleotide variant |
Early infantile epileptic encephalopathy with suppression bursts [RCV002124153] |
Chr2:165991824 [GRCh38]
Chr2:166848334 [GRCh37]
Chr2:2q24.3 |
likely benign |
| NM_001165963.4(SCN1A):c.4002+2627_4002+2628del |
deletion |
Early infantile epileptic encephalopathy with suppression bursts [RCV002204467] |
Chr2:166007091..166007092 [GRCh38]
Chr2:166863601..166863602 [GRCh37]
Chr2:2q24.3 |
likely benign |
| NM_001165963.4(SCN1A):c.4477-20T>C |
single nucleotide variant |
Early infantile epileptic encephalopathy with suppression bursts [RCV002201062] |
Chr2:165996137 [GRCh38]
Chr2:166852647 [GRCh37]
Chr2:2q24.3 |
likely benign |
| NM_001165963.4(SCN1A):c.2177-15_2177-14insC |
insertion |
Early infantile epileptic encephalopathy with suppression bursts [RCV002162901] |
Chr2:166041483..166041484 [GRCh38]
Chr2:166897993..166897994 [GRCh37]
Chr2:2q24.3 |
likely benign |
| NM_001165963.4(SCN1A):c.1980T>G (p.Pro660=) |
single nucleotide variant |
Early infantile epileptic encephalopathy with suppression bursts [RCV002140256]|not provided [RCV002275352] |
Chr2:166043732 [GRCh38]
Chr2:166900242 [GRCh37]
Chr2:2q24.3 |
likely benign |
| NM_001165963.4(SCN1A):c.354G>A (p.Arg118=) |
single nucleotide variant |
Early infantile epileptic encephalopathy with suppression bursts [RCV002120966] |
Chr2:166058599 [GRCh38]
Chr2:166915109 [GRCh37]
Chr2:2q24.3 |
likely benign |
| NM_006920.6(SCN1A):c.4795G>T (p.Val1599Leu) |
single nucleotide variant |
not provided [RCV002221734] |
|
uncertain significance |
| NM_001165963.4(SCN1A):c.2475C>T (p.Tyr825=) |
single nucleotide variant |
Early infantile epileptic encephalopathy with suppression bursts [RCV002182283] |
Chr2:166039537 [GRCh38]
Chr2:166896047 [GRCh37]
Chr2:2q24.3 |
likely benign |
| NM_001165963.4(SCN1A):c.1377+20T>C |
single nucleotide variant |
Early infantile epileptic encephalopathy with suppression bursts [RCV002122278] |
Chr2:166046750 [GRCh38]
Chr2:166903260 [GRCh37]
Chr2:2q24.3 |
likely benign |
| NM_001165963.4(SCN1A):c.181del (p.Leu61fs) |
deletion |
Severe myoclonic epilepsy in infancy [RCV002222067] |
Chr2:166073441 [GRCh38]
Chr2:166929951 [GRCh37]
Chr2:2q24.3 |
pathogenic |
| NM_001165963.4(SCN1A):c.1134_1136del (p.Met379del) |
deletion |
Severe myoclonic epilepsy in infancy [RCV002222068] |
Chr2:166047661..166047663 [GRCh38]
Chr2:166904171..166904173 [GRCh37]
Chr2:2q24.3 |
pathogenic |
| NM_001165963.4(SCN1A):c.3713A>G (p.Glu1238Gly) |
single nucleotide variant |
Generalized epilepsy with febrile seizures plus, type 2 [RCV002222069] |
Chr2:166012275 [GRCh38]
Chr2:166868785 [GRCh37]
Chr2:2q24.3 |
uncertain significance |
| NM_001165963.4(SCN1A):c.5540_5543dup (p.Gln1848fs) |
duplication |
Severe myoclonic epilepsy in infancy [RCV002222070] |
Chr2:165991731..165991732 [GRCh38]
Chr2:166848241..166848242 [GRCh37]
Chr2:2q24.3 |
pathogenic |
| NM_001165963.4(SCN1A):c.4378del (p.Tyr1460fs) |
deletion |
Severe myoclonic epilepsy in infancy [RCV002222071] |
Chr2:165998136 [GRCh38]
Chr2:166854646 [GRCh37]
Chr2:2q24.3 |
pathogenic |
| NM_001165963.4(SCN1A):c.474-15G>T |
single nucleotide variant |
Early infantile epileptic encephalopathy with suppression bursts [RCV002124264] |
Chr2:166054781 [GRCh38]
Chr2:166911291 [GRCh37]
Chr2:2q24.3 |
likely benign |
| NM_001165963.4(SCN1A):c.4002+2206T>A |
single nucleotide variant |
Early infantile epileptic encephalopathy with suppression bursts [RCV002199145] |
Chr2:166007513 [GRCh38]
Chr2:166864023 [GRCh37]
Chr2:2q24.3 |
likely benign |
| NM_001165963.4(SCN1A):c.2202C>T (p.Cys734=) |
single nucleotide variant |
Early infantile epileptic encephalopathy with suppression bursts [RCV002142390] |
Chr2:166041444 [GRCh38]
Chr2:166897954 [GRCh37]
Chr2:2q24.3 |
likely benign |
| NM_001165963.4(SCN1A):c.4002+2383G>T |
single nucleotide variant |
Early infantile epileptic encephalopathy with suppression bursts [RCV002101613] |
Chr2:166007336 [GRCh38]
Chr2:166863846 [GRCh37]
Chr2:2q24.3 |
benign |
| NM_001165963.4(SCN1A):c.502G>C (p.Glu168Gln) |
single nucleotide variant |
not provided [RCV003109997] |
Chr2:166054738 [GRCh38]
Chr2:166911248 [GRCh37]
Chr2:2q24.3 |
likely pathogenic |
| NM_001165963.4(SCN1A):c.25C>A (p.Pro9Thr) |
single nucleotide variant |
not provided [RCV003110097] |
Chr2:166073597 [GRCh38]
Chr2:166930107 [GRCh37]
Chr2:2q24.3 |
uncertain significance |
| NM_001165963.4(SCN1A):c.3233A>G (p.Asp1078Gly) |
single nucleotide variant |
Early infantile epileptic encephalopathy with suppression bursts [RCV003114715] |
Chr2:166036244 [GRCh38]
Chr2:166892754 [GRCh37]
Chr2:2q24.3 |
uncertain significance |
| NM_001165963.4(SCN1A):c.5457A>T (p.Ala1819=) |
single nucleotide variant |
Early infantile epileptic encephalopathy with suppression bursts [RCV003112585] |
Chr2:165991818 [GRCh38]
Chr2:166848328 [GRCh37]
Chr2:2q24.3 |
likely benign |
| NC_000002.11:g.(?_165946660)_(167108415_?)del |
deletion |
Neuropathy, hereditary sensory and autonomic, type 2A [RCV003113168] |
Chr2:165946660..167108415 [GRCh37]
Chr2:2q24.3 |
pathogenic |
| NC_000002.11:g.(?_166847749)_(167060980_?)del |
deletion |
Neuropathy, hereditary sensory and autonomic, type 2A [RCV003113169] |
Chr2:166847749..167060980 [GRCh37]
Chr2:2q24.3 |
pathogenic |
| NM_001165963.4(SCN1A):c.768C>T (p.Phe256=) |
single nucleotide variant |
Early infantile epileptic encephalopathy with suppression bursts [RCV003118354] |
Chr2:166051915 [GRCh38]
Chr2:166908425 [GRCh37]
Chr2:2q24.3 |
likely benign |
| NM_001165963.4(SCN1A):c.2875T>G (p.Cys959Gly) |
single nucleotide variant |
Early infantile epileptic encephalopathy with suppression bursts [RCV003112130] |
Chr2:166037847 [GRCh38]
Chr2:166894357 [GRCh37]
Chr2:2q24.3 |
pathogenic |
| NM_001165963.4(SCN1A):c.298T>G (p.Phe100Val) |
single nucleotide variant |
Early infantile epileptic encephalopathy with suppression bursts [RCV003112131] |
Chr2:166058655 [GRCh38]
Chr2:166915165 [GRCh37]
Chr2:2q24.3 |
pathogenic |
| NM_001165963.4(SCN1A):c.4177C>T (p.His1393Tyr) |
single nucleotide variant |
Early infantile epileptic encephalopathy with suppression bursts [RCV003117186] |
Chr2:166002579 [GRCh38]
Chr2:166859089 [GRCh37]
Chr2:2q24.3 |
uncertain significance |
| NM_001165963.4(SCN1A):c.1572A>T (p.Glu524Asp) |
single nucleotide variant |
not specified [RCV003123416] |
Chr2:166045133 [GRCh38]
Chr2:166901643 [GRCh37]
Chr2:2q24.3 |
uncertain significance |
| NM_001165963.4(SCN1A):c.5073C>T (p.Asn1691=) |
single nucleotide variant |
Early infantile epileptic encephalopathy with suppression bursts [RCV003121737] |
Chr2:165992202 [GRCh38]
Chr2:166848712 [GRCh37]
Chr2:2q24.3 |
likely benign |
| NM_001165963.4(SCN1A):c.2127A>G (p.Gln709=) |
single nucleotide variant |
Early infantile epileptic encephalopathy with suppression bursts [RCV003120098] |
Chr2:166042341 [GRCh38]
Chr2:166898851 [GRCh37]
Chr2:2q24.3 |
likely benign |
| NM_001165963.4(SCN1A):c.4002+2420G>A |
single nucleotide variant |
Early infantile epileptic encephalopathy with suppression bursts [RCV003753260]|Severe myoclonic epilepsy in infancy [RCV003128179] |
Chr2:166007299 [GRCh38]
Chr2:166863809 [GRCh37]
Chr2:2q24.3 |
likely benign|uncertain significance |
| NM_001165963.4(SCN1A):c.626T>C (p.Leu209Pro) |
single nucleotide variant |
Developmental and epileptic encephalopathy, 6 [RCV003326176] |
Chr2:166052920 [GRCh38]
Chr2:166909430 [GRCh37]
Chr2:2q24.3 |
pathogenic |
| NM_001165963.4(SCN1A):c.939del (p.Trp314fs) |
deletion |
Severe myoclonic epilepsy in infancy [RCV003326178] |
Chr2:166051744 [GRCh38]
Chr2:166908254 [GRCh37]
Chr2:2q24.3 |
pathogenic |
| NM_001165963.4(SCN1A):c.5525C>T (p.Pro1842Leu) |
single nucleotide variant |
not provided [RCV003152203] |
Chr2:165991750 [GRCh38]
Chr2:166848260 [GRCh37]
Chr2:2q24.3 |
uncertain significance |
| NM_001165963.4(SCN1A):c.4151G>A (p.Arg1384Lys) |
single nucleotide variant |
not provided [RCV003152218] |
Chr2:166002605 [GRCh38]
Chr2:166859115 [GRCh37]
Chr2:2q24.3 |
uncertain significance |
| NM_001165963.4(SCN1A):c.621G>A (p.Val207=) |
single nucleotide variant |
not provided [RCV003152227] |
Chr2:166052925 [GRCh38]
Chr2:166909435 [GRCh37]
Chr2:2q24.3 |
uncertain significance |
| NM_001165963.4(SCN1A):c.1259del (p.Ala420fs) |
deletion |
Autosomal dominant epilepsy [RCV002271866] |
Chr2:166046888 [GRCh38]
Chr2:166903398 [GRCh37]
Chr2:2q24.3 |
likely pathogenic |
| GRCh37/hg19 2q24.2-31.1(chr2:160347642-174075851)x1 |
copy number loss |
2q24 microdeletion syndrome [RCV002271993] |
Chr2:160347642..174075851 [GRCh37]
Chr2:2q24.2-31.1 |
pathogenic |
| NM_001165963.4(SCN1A):c.1727G>A (p.Ser576Asn) |
single nucleotide variant |
Developmental and epileptic encephalopathy, 6 [RCV002273271]|Early infantile epileptic encephalopathy with suppression bursts [RCV003588797] |
Chr2:166043985 [GRCh38]
Chr2:166900495 [GRCh37]
Chr2:2q24.3 |
uncertain significance |
| NM_001165963.4(SCN1A):c.323T>A (p.Leu108Gln) |
single nucleotide variant |
Generalized epilepsy with febrile seizures plus, type 2 [RCV002249161] |
Chr2:166058630 [GRCh38]
Chr2:166915140 [GRCh37]
Chr2:2q24.3 |
likely pathogenic |
| NM_001165963.4(SCN1A):c.73A>T (p.Ile25Phe) |
single nucleotide variant |
not provided [RCV002244425] |
Chr2:166073549 [GRCh38]
Chr2:166930059 [GRCh37]
Chr2:2q24.3 |
uncertain significance |
| NM_001165963.4(SCN1A):c.2970G>T (p.Leu990Phe) |
single nucleotide variant |
not provided [RCV003156517] |
Chr2:166036507 [GRCh38]
Chr2:166893017 [GRCh37]
Chr2:2q24.3 |
likely pathogenic |
| NM_001165963.4(SCN1A):c.2589+3A>G |
single nucleotide variant |
Generalized epilepsy with febrile seizures plus, type 2 [RCV002249160] |
Chr2:166039420 [GRCh38]
Chr2:166895930 [GRCh37]
Chr2:2q24.3 |
likely pathogenic |
| NM_001165963.4(SCN1A):c.5711del (p.Gln1904fs) |
deletion |
Generalized epilepsy with febrile seizures plus, type 2 [RCV002250305] |
Chr2:165991564 [GRCh38]
Chr2:166848074 [GRCh37]
Chr2:2q24.3 |
pathogenic |
| NM_001165963.4(SCN1A):c.4284+2del |
deletion |
Generalized epilepsy with febrile seizures plus, type 2 [RCV002250310] |
Chr2:166002470 [GRCh38]
Chr2:166858980 [GRCh37]
Chr2:2q24.3 |
pathogenic |
| NM_001165963.4(SCN1A):c.4112G>A (p.Gly1371Asp) |
single nucleotide variant |
Early infantile epileptic encephalopathy with suppression bursts [RCV003588783]|Generalized epilepsy with febrile seizures plus, type 2 [RCV002250311] |
Chr2:166002644 [GRCh38]
Chr2:166859154 [GRCh37]
Chr2:2q24.3 |
pathogenic|likely pathogenic |
| NM_001165963.4(SCN1A):c.3950C>G (p.Thr1317Arg) |
single nucleotide variant |
Generalized epilepsy with febrile seizures plus, type 2 [RCV002250312] |
Chr2:166009771 [GRCh38]
Chr2:166866281 [GRCh37]
Chr2:2q24.3 |
pathogenic |
| NM_001165963.4(SCN1A):c.3383_3390del (p.Asn1128fs) |
deletion |
Generalized epilepsy with febrile seizures plus, type 2 [RCV002250313] |
Chr2:166036087..166036094 [GRCh38]
Chr2:166892597..166892604 [GRCh37]
Chr2:2q24.3 |
pathogenic |
| NM_001165963.4(SCN1A):c.4630G>A (p.Asp1544Asn) |
single nucleotide variant |
Generalized epilepsy with febrile seizures plus, type 2 [RCV003128372] |
Chr2:165994368 [GRCh38]
Chr2:166850878 [GRCh37]
Chr2:2q24.3 |
likely pathogenic |
| NM_001165963.4(SCN1A):c.5442G>C (p.Lys1814Asn) |
single nucleotide variant |
not provided [RCV003129159] |
Chr2:165991833 [GRCh38]
Chr2:166848343 [GRCh37]
Chr2:2q24.3 |
likely pathogenic |
| NM_001165963.4(SCN1A):c.352A>G (p.Arg118Gly) |
single nucleotide variant |
Severe myoclonic epilepsy in infancy [RCV002251785] |
Chr2:166058601 [GRCh38]
Chr2:166915111 [GRCh37]
Chr2:2q24.3 |
likely pathogenic |
| NM_001165963.4(SCN1A):c.-142G>A |
single nucleotide variant |
Migraine, familial hemiplegic, 3 [RCV002227777] |
Chr2:166077802 [GRCh38]
Chr2:166934312 [GRCh37]
Chr2:2q24.3 |
uncertain significance |
| NM_001165963.4(SCN1A):c.1337del (p.Gln446fs) |
deletion |
Severe myoclonic epilepsy in infancy [RCV003130927] |
Chr2:166046810 [GRCh38]
Chr2:166903320 [GRCh37]
Chr2:2q24.3 |
likely pathogenic |
| NM_001165963.4(SCN1A):c.808A>G (p.Met270Val) |
single nucleotide variant |
not provided [RCV003233403] |
Chr2:166051875 [GRCh38]
Chr2:166908385 [GRCh37]
Chr2:2q24.3 |
uncertain significance |
| GRCh37/hg19 2q24.3(chr2:166872248-167334216) |
copy number loss |
Severe myoclonic epilepsy in infancy [RCV003236710] |
Chr2:166872248..167334216 [GRCh37]
Chr2:2q24.3 |
pathogenic |
| NM_001165963.4(SCN1A):c.384-9A>G |
single nucleotide variant |
Early infantile epileptic encephalopathy with suppression bursts [RCV003095985]|not provided [RCV002265114] |
Chr2:166056509 [GRCh38]
Chr2:166913019 [GRCh37]
Chr2:2q24.3 |
uncertain significance |
| NM_001165963.4(SCN1A):c.1633T>G (p.Tyr545Asp) |
single nucleotide variant |
not provided [RCV002263229] |
Chr2:166045072 [GRCh38]
Chr2:166901582 [GRCh37]
Chr2:2q24.3 |
uncertain significance |
| NM_001165963.4(SCN1A):c.1439C>G (p.Ser480Ter) |
single nucleotide variant |
Seizure [RCV002275468] |
Chr2:166045266 [GRCh38]
Chr2:166901776 [GRCh37]
Chr2:2q24.3 |
pathogenic |
| NM_001165963.4(SCN1A):c.2915T>G (p.Phe972Cys) |
single nucleotide variant |
Severe myoclonic epilepsy in infancy [RCV002267686] |
Chr2:166037807 [GRCh38]
Chr2:166894317 [GRCh37]
Chr2:2q24.3 |
uncertain significance |
| NM_001165963.4(SCN1A):c.2636T>C (p.Leu879Pro) |
single nucleotide variant |
Generalized epilepsy with febrile seizures plus [RCV002260560] |
Chr2:166038086 [GRCh38]
Chr2:166894596 [GRCh37]
Chr2:2q24.3 |
uncertain significance |
| NM_001165963.4(SCN1A):c.2226del (p.Asn743fs) |
deletion |
Seizure [RCV002275919] |
Chr2:166041420 [GRCh38]
Chr2:166897930 [GRCh37]
Chr2:2q24.3 |
pathogenic |
| NM_001165963.4(SCN1A):c.3550+2T>G |
single nucleotide variant |
Generalized epilepsy with febrile seizures plus, type 2 [RCV002274400] |
Chr2:166015605 [GRCh38]
Chr2:166872115 [GRCh37]
Chr2:2q24.3 |
pathogenic |
| NM_001165963.4(SCN1A):c.2345C>T (p.Thr782Ile) |
single nucleotide variant |
not provided [RCV002276082] |
Chr2:166041301 [GRCh38]
Chr2:166897811 [GRCh37]
Chr2:2q24.3 |
likely pathogenic |
| NM_001165963.4(SCN1A):c.3008C>G (p.Thr1003Ser) |
single nucleotide variant |
not provided [RCV002260811] |
Chr2:166036469 [GRCh38]
Chr2:166892979 [GRCh37]
Chr2:2q24.3 |
uncertain significance |
| NM_001165963.4(SCN1A):c.2806G>C (p.Asp936His) |
single nucleotide variant |
Severe myoclonic epilepsy in infancy [RCV002276250] |
Chr2:166037916 [GRCh38]
Chr2:166894426 [GRCh37]
Chr2:2q24.3 |
likely pathogenic |
| NM_001165963.4(SCN1A):c.2868G>T (p.Met956Ile) |
single nucleotide variant |
Seizure [RCV002276346] |
Chr2:166037854 [GRCh38]
Chr2:166894364 [GRCh37]
Chr2:2q24.3 |
likely pathogenic |
| NM_001165963.4(SCN1A):c.1157dup (p.Asn386fs) |
duplication |
Seizure [RCV002276347] |
Chr2:166047639..166047640 [GRCh38]
Chr2:166904149..166904150 [GRCh37]
Chr2:2q24.3 |
pathogenic |
| NM_001165963.4(SCN1A):c.4460A>G (p.Asn1487Ser) |
single nucleotide variant |
Severe myoclonic epilepsy in infancy [RCV002288403] |
Chr2:165998054 [GRCh38]
Chr2:166854564 [GRCh37]
Chr2:2q24.3 |
uncertain significance |
| NM_001165963.4(SCN1A):c.1873A>G (p.Thr625Ala) |
single nucleotide variant |
not provided [RCV002274668] |
Chr2:166043839 [GRCh38]
Chr2:166900349 [GRCh37]
Chr2:2q24.3 |
uncertain significance |
| NM_001165963.4(SCN1A):c.1082_1092del (p.Gly361fs) |
deletion |
Severe myoclonic epilepsy in infancy [RCV002267684] |
Chr2:166047705..166047715 [GRCh38]
Chr2:166904215..166904225 [GRCh37]
Chr2:2q24.3 |
likely pathogenic |
| NM_001165963.4(SCN1A):c.4497T>C (p.Phe1499=) |
single nucleotide variant |
not provided [RCV002276425] |
Chr2:165996097 [GRCh38]
Chr2:166852607 [GRCh37]
Chr2:2q24.3 |
likely benign |
| NM_001165963.4(SCN1A):c.2815del (p.His939fs) |
deletion |
Severe myoclonic epilepsy in infancy [RCV002289068] |
Chr2:166037907 [GRCh38]
Chr2:166894417 [GRCh37]
Chr2:2q24.3 |
likely pathogenic |
| NM_001165963.4(SCN1A):c.4563G>C (p.Lys1521Asn) |
single nucleotide variant |
Generalized epilepsy with febrile seizures plus, type 2 [RCV002289070] |
Chr2:165996031 [GRCh38]
Chr2:166852541 [GRCh37]
Chr2:2q24.3 |
uncertain significance |
| NM_001165963.4(SCN1A):c.4582-3C>A |
single nucleotide variant |
not provided [RCV002269485] |
Chr2:165994419 [GRCh38]
Chr2:166850929 [GRCh37]
Chr2:2q24.3 |
uncertain significance |
| NM_001165963.4(SCN1A):c.2855G>T (p.Trp952Leu) |
single nucleotide variant |
Developmental and epileptic encephalopathy 6B [RCV002291181] |
Chr2:166037867 [GRCh38]
Chr2:166894377 [GRCh37]
Chr2:2q24.3 |
likely pathogenic |
| NM_001165963.4(SCN1A):c.5876T>C (p.Met1959Thr) |
single nucleotide variant |
not provided [RCV002275856] |
Chr2:165991399 [GRCh38]
Chr2:166847909 [GRCh37]
Chr2:2q24.3 |
uncertain significance |
| NM_001165963.4(SCN1A):c.4727T>C (p.Ile1576Thr) |
single nucleotide variant |
not provided [RCV002263227] |
Chr2:165994271 [GRCh38]
Chr2:166850781 [GRCh37]
Chr2:2q24.3 |
likely pathogenic|uncertain significance |
| NM_001165963.4(SCN1A):c.3372T>A (p.Phe1124Leu) |
single nucleotide variant |
not provided [RCV002293684] |
Chr2:166036105 [GRCh38]
Chr2:166892615 [GRCh37]
Chr2:2q24.3 |
uncertain significance |
| NM_001165963.4(SCN1A):c.4270T>C (p.Ser1424Pro) |
single nucleotide variant |
Severe myoclonic epilepsy in infancy [RCV002283709] |
Chr2:166002486 [GRCh38]
Chr2:166858996 [GRCh37]
Chr2:2q24.3 |
uncertain significance |
| NM_001165963.4(SCN1A):c.4585A>T (p.Lys1529Ter) |
single nucleotide variant |
Severe myoclonic epilepsy in infancy [RCV002283736] |
Chr2:165994413 [GRCh38]
Chr2:166850923 [GRCh37]
Chr2:2q24.3 |
likely pathogenic |
| NM_001165963.4(SCN1A):c.4244T>G (p.Phe1415Cys) |
single nucleotide variant |
Severe myoclonic epilepsy in infancy [RCV002283804] |
Chr2:166002512 [GRCh38]
Chr2:166859022 [GRCh37]
Chr2:2q24.3 |
uncertain significance |
| NM_001165963.4(SCN1A):c.3089_3091delinsAA (p.Ile1030fs) |
indel |
not provided [RCV002276081] |
Chr2:166036386..166036388 [GRCh38]
Chr2:166892896..166892898 [GRCh37]
Chr2:2q24.3 |
pathogenic |
| NM_001165963.4(SCN1A):c.4418T>C (p.Phe1473Ser) |
single nucleotide variant |
Severe myoclonic epilepsy in infancy [RCV002284136] |
Chr2:165998096 [GRCh38]
Chr2:166854606 [GRCh37]
Chr2:2q24.3 |
pathogenic |
| NM_001165963.4(SCN1A):c.2846G>T (p.Cys949Phe) |
single nucleotide variant |
Severe myoclonic epilepsy in infancy [RCV002284138] |
Chr2:166037876 [GRCh38]
Chr2:166894386 [GRCh37]
Chr2:2q24.3 |
pathogenic |
| NM_001165963.4(SCN1A):c.3443G>A (p.Ser1148Asn) |
single nucleotide variant |
Early infantile epileptic encephalopathy with suppression bursts [RCV003588798]|not provided [RCV002276323] |
Chr2:166015714 [GRCh38]
Chr2:166872224 [GRCh37]
Chr2:2q24.3 |
uncertain significance |
| NM_001165963.4(SCN1A):c.1685_1688del (p.Ser562fs) |
deletion |
Generalized epilepsy with febrile seizures plus, type 2 [RCV002289128] |
Chr2:166044024..166044027 [GRCh38]
Chr2:166900534..166900537 [GRCh37]
Chr2:2q24.3 |
likely pathogenic |
| NM_001165963.4(SCN1A):c.4876G>C (p.Glu1626Gln) |
single nucleotide variant |
Severe myoclonic epilepsy in infancy [RCV002289288] |
Chr2:165992399 [GRCh38]
Chr2:166848909 [GRCh37]
Chr2:2q24.3 |
uncertain significance |
| GRCh38/hg38 2q24.3(chr2:165383106-167432622)x1 |
copy number loss |
West syndrome [RCV002286320] |
Chr2:165383106..167432622 [GRCh38]
Chr2:2q24.3 |
pathogenic |
| NM_001165963.4(SCN1A):c.566C>T (p.Pro189Leu) |
single nucleotide variant |
not provided [RCV002263230] |
Chr2:166054674 [GRCh38]
Chr2:166911184 [GRCh37]
Chr2:2q24.3 |
uncertain significance |
| NM_001165963.4(SCN1A):c.2946+2T>C |
single nucleotide variant |
Migraine, familial hemiplegic, 3 [RCV002281611] |
Chr2:166037774 [GRCh38]
Chr2:166894284 [GRCh37]
Chr2:2q24.3 |
pathogenic |
| NM_001165963.4(SCN1A):c.4390G>C (p.Val1464Leu) |
single nucleotide variant |
Developmental and epileptic encephalopathy 6B [RCV002286502] |
Chr2:165998124 [GRCh38]
Chr2:166854634 [GRCh37]
Chr2:2q24.3 |
benign |
| NM_001165963.4(SCN1A):c.5294T>C (p.Phe1765Ser) |
single nucleotide variant |
Severe myoclonic epilepsy in infancy [RCV002283806] |
Chr2:165991981 [GRCh38]
Chr2:166848491 [GRCh37]
Chr2:2q24.3 |
pathogenic |
| NM_001165963.4(SCN1A):c.3836_3837del (p.Tyr1279fs) |
microsatellite |
Developmental and epileptic encephalopathy, 6 [RCV002287596]|Early infantile epileptic encephalopathy with suppression bursts [RCV003097722] |
Chr2:166012151..166012152 [GRCh38]
Chr2:166868661..166868662 [GRCh37]
Chr2:2q24.3 |
pathogenic |
| NM_001165963.4(SCN1A):c.5177G>A (p.Trp1726Ter) |
single nucleotide variant |
Early infantile epileptic encephalopathy with suppression bursts [RCV003097773]|Severe myoclonic epilepsy in infancy [RCV002289212] |
Chr2:165992098 [GRCh38]
Chr2:166848608 [GRCh37]
Chr2:2q24.3 |
pathogenic|likely pathogenic |
| NM_001165963.4(SCN1A):c.4318G>A (p.Ala1440Thr) |
single nucleotide variant |
Severe myoclonic epilepsy in infancy [RCV002267698] |
Chr2:165999743 [GRCh38]
Chr2:166856253 [GRCh37]
Chr2:2q24.3 |
pathogenic |
| NM_001165963.4(SCN1A):c.3706-1G>A |
single nucleotide variant |
Inborn genetic diseases [RCV002348965] |
Chr2:166012283 [GRCh38]
Chr2:166868793 [GRCh37]
Chr2:2q24.3 |
pathogenic |
| NM_001165963.4(SCN1A):c.3266G>A (p.Gly1089Asp) |
single nucleotide variant |
not provided [RCV002273394] |
Chr2:166036211 [GRCh38]
Chr2:166892721 [GRCh37]
Chr2:2q24.3 |
uncertain significance |
| NM_001165963.4(SCN1A):c.2862_2863dup (p.Thr955fs) |
microsatellite |
Severe myoclonic epilepsy in infancy [RCV002284141] |
Chr2:166037858..166037859 [GRCh38]
Chr2:166894368..166894369 [GRCh37]
Chr2:2q24.3 |
pathogenic |
| NM_001165963.4(SCN1A):c.1005del (p.Cys336fs) |
deletion |
Severe myoclonic epilepsy in infancy [RCV002284146] |
Chr2:166048909 [GRCh38]
Chr2:166905419 [GRCh37]
Chr2:2q24.3 |
pathogenic |
| NM_001165963.4(SCN1A):c.1377+1G>A |
single nucleotide variant |
Severe myoclonic epilepsy in infancy [RCV002284147] |
Chr2:166046769 [GRCh38]
Chr2:166903279 [GRCh37]
Chr2:2q24.3 |
pathogenic |
| NM_001165963.4(SCN1A):c.6016G>A (p.Ala2006Thr) |
single nucleotide variant |
Generalized epilepsy with febrile seizures plus, type 2 [RCV002289368] |
Chr2:165991259 [GRCh38]
Chr2:166847769 [GRCh37]
Chr2:2q24.3 |
uncertain significance |
| GRCh38/hg38 2q24.3(chr2:165155128-166062451)x1 |
copy number loss |
Epilepsy of infancy with migrating focal seizures [RCV002286319] |
Chr2:165155128..166062451 [GRCh38]
Chr2:2q24.3 |
pathogenic |
| NM_001165963.4(SCN1A):c.4126T>A (p.Cys1376Ser) |
single nucleotide variant |
not provided [RCV002263228] |
Chr2:166002630 [GRCh38]
Chr2:166859140 [GRCh37]
Chr2:2q24.3 |
likely pathogenic|uncertain significance |
| NM_001165963.4(SCN1A):c.2722G>A (p.Gly908Ser) |
single nucleotide variant |
Early infantile epileptic encephalopathy with suppression bursts [RCV003095983]|Inborn genetic diseases [RCV002427740]|not provided [RCV002265107] |
Chr2:166038000 [GRCh38]
Chr2:166894510 [GRCh37]
Chr2:2q24.3 |
uncertain significance |
| NM_001165963.4(SCN1A):c.2732T>G (p.Leu911Arg) |
single nucleotide variant |
Migraine, familial hemiplegic, 3 [RCV002281609] |
Chr2:166037990 [GRCh38]
Chr2:166894500 [GRCh37]
Chr2:2q24.3 |
likely pathogenic |
| NM_001165963.4(SCN1A):c.2854T>A (p.Trp952Arg) |
single nucleotide variant |
Migraine, familial hemiplegic, 3 [RCV002281610] |
Chr2:166037868 [GRCh38]
Chr2:166894378 [GRCh37]
Chr2:2q24.3 |
pathogenic |
| NM_001165963.4(SCN1A):c.907A>G (p.Thr303Ala) |
single nucleotide variant |
not provided [RCV002265281] |
Chr2:166051776 [GRCh38]
Chr2:166908286 [GRCh37]
Chr2:2q24.3 |
uncertain significance |
| NM_001165963.4(SCN1A):c.3341C>T (p.Thr1114Ile) |
single nucleotide variant |
Early infantile epileptic encephalopathy with suppression bursts [RCV002296989] |
Chr2:166036136 [GRCh38]
Chr2:166892646 [GRCh37]
Chr2:2q24.3 |
uncertain significance |
| NM_001165963.4(SCN1A):c.2462C>T (p.Ala821Val) |
single nucleotide variant |
not provided [RCV002269440] |
Chr2:166039550 [GRCh38]
Chr2:166896060 [GRCh37]
Chr2:2q24.3 |
uncertain significance |
| NM_001165963.4(SCN1A):c.4493T>C (p.Ile1498Thr) |
single nucleotide variant |
Generalized epilepsy with febrile seizures plus, type 2 [RCV002290267] |
Chr2:165996101 [GRCh38]
Chr2:166852611 [GRCh37]
Chr2:2q24.3 |
likely pathogenic |
| NM_001165963.4(SCN1A):c.4972_4973delinsTA (p.Thr1658Ter) |
indel |
Severe myoclonic epilepsy in infancy [RCV002290414] |
Chr2:165992302..165992303 [GRCh38]
Chr2:166848812..166848813 [GRCh37]
Chr2:2q24.3 |
likely pathogenic |
| NM_001165963.4(SCN1A):c.4379A>G (p.Tyr1460Cys) |
single nucleotide variant |
Severe myoclonic epilepsy in infancy [RCV003234626] |
Chr2:165998135 [GRCh38]
Chr2:166854645 [GRCh37]
Chr2:2q24.3 |
likely pathogenic |
| NM_001165963.4(SCN1A):c.2879T>A (p.Met960Lys) |
single nucleotide variant |
Generalized epilepsy with febrile seizures plus, type 2 [RCV002289315] |
Chr2:166037843 [GRCh38]
Chr2:166894353 [GRCh37]
Chr2:2q24.3 |
likely pathogenic |
| NM_001165963.4(SCN1A):c.2512_2514del (p.Phe838del) |
deletion |
Inborn genetic diseases [RCV002434937] |
Chr2:166039498..166039500 [GRCh38]
Chr2:166896008..166896010 [GRCh37]
Chr2:2q24.3 |
likely pathogenic |
| NM_001165963.4(SCN1A):c.982del (p.Glu328fs) |
deletion |
Generalized epilepsy with febrile seizures plus, type 2 [RCV002274272] |
Chr2:166048932 [GRCh38]
Chr2:166905442 [GRCh37]
Chr2:2q24.3 |
likely pathogenic |
| NM_001165963.4(SCN1A):c.5476G>T (p.Glu1826Ter) |
single nucleotide variant |
Developmental and epileptic encephalopathy 6B [RCV002293381] |
Chr2:165991799 [GRCh38]
Chr2:166848309 [GRCh37]
Chr2:2q24.3 |
pathogenic |
| NM_001165963.4(SCN1A):c.5144T>C (p.Ile1715Thr) |
single nucleotide variant |
Early infantile epileptic encephalopathy with suppression bursts [RCV002297326] |
Chr2:165992131 [GRCh38]
Chr2:166848641 [GRCh37]
Chr2:2q24.3 |
uncertain significance |
| NM_001165963.4(SCN1A):c.2872dup (p.Asp958fs) |
duplication |
Inborn genetic diseases [RCV002437691] |
Chr2:166037849..166037850 [GRCh38]
Chr2:166894359..166894360 [GRCh37]
Chr2:2q24.3 |
pathogenic |
| NM_001165963.4(SCN1A):c.1027G>C (p.Gly343Arg) |
single nucleotide variant |
Inborn genetic diseases [RCV002385755] |
Chr2:166048887 [GRCh38]
Chr2:166905397 [GRCh37]
Chr2:2q24.3 |
pathogenic |
| NM_001165963.4(SCN1A):c.1838G>A (p.Arg613Gln) |
single nucleotide variant |
Early infantile epileptic encephalopathy with suppression bursts [RCV003096064]|not provided [RCV002267346] |
Chr2:166043874 [GRCh38]
Chr2:166900384 [GRCh37]
Chr2:2q24.3 |
likely benign|uncertain significance |
| NM_001165963.4(SCN1A):c.4924A>G (p.Arg1642Gly) |
single nucleotide variant |
Migraine, familial hemiplegic, 3 [RCV002281613] |
Chr2:165992351 [GRCh38]
Chr2:166848861 [GRCh37]
Chr2:2q24.3 |
likely pathogenic |
| NM_001165963.4(SCN1A):c.828A>C (p.Lys276Asn) |
single nucleotide variant |
Migraine, familial hemiplegic, 3 [RCV002281614] |
Chr2:166051855 [GRCh38]
Chr2:166908365 [GRCh37]
Chr2:2q24.3 |
pathogenic |
| NM_001165963.4(SCN1A):c.2580_2584del (p.Phe861fs) |
deletion |
Inborn genetic diseases [RCV002452838] |
Chr2:166039428..166039432 [GRCh38]
Chr2:166895938..166895942 [GRCh37]
Chr2:2q24.3 |
pathogenic |
| NM_001165963.4(SCN1A):c.1029-2A>C |
single nucleotide variant |
Inborn genetic diseases [RCV002387588] |
Chr2:166047770 [GRCh38]
Chr2:166904280 [GRCh37]
Chr2:2q24.3 |
likely pathogenic |
| NM_001165963.4(SCN1A):c.4279C>T (p.Gln1427Ter) |
single nucleotide variant |
Severe myoclonic epilepsy in infancy [RCV002468781] |
Chr2:166002477 [GRCh38]
Chr2:166858987 [GRCh37]
Chr2:2q24.3 |
pathogenic |
| NM_001165963.4(SCN1A):c.659T>A (p.Val220Asp) |
single nucleotide variant |
Migraine, familial hemiplegic, 3 [RCV002281612] |
Chr2:166052887 [GRCh38]
Chr2:166909397 [GRCh37]
Chr2:2q24.3 |
pathogenic |
| NM_001165963.4(SCN1A):c.835C>T (p.Gln279Ter) |
single nucleotide variant |
Severe myoclonic epilepsy in infancy [RCV002283766] |
Chr2:166051848 [GRCh38]
Chr2:166908358 [GRCh37]
Chr2:2q24.3 |
pathogenic |
| NM_001165963.4(SCN1A):c.2390A>G (p.Asn797Ser) |
single nucleotide variant |
not provided [RCV002287965] |
Chr2:166041256 [GRCh38]
Chr2:166897766 [GRCh37]
Chr2:2q24.3 |
uncertain significance |
| NM_001165963.4(SCN1A):c.4178A>C (p.His1393Pro) |
single nucleotide variant |
Severe myoclonic epilepsy in infancy [RCV002284139] |
Chr2:166002578 [GRCh38]
Chr2:166859088 [GRCh37]
Chr2:2q24.3 |
pathogenic |
| NM_001165963.4(SCN1A):c.592A>G (p.Ile198Val) |
single nucleotide variant |
Early infantile epileptic encephalopathy with suppression bursts [RCV002297287] |
Chr2:166054648 [GRCh38]
Chr2:166911158 [GRCh37]
Chr2:2q24.3 |
uncertain significance |
| NM_001165963.4(SCN1A):c.4475_4476+1del |
microsatellite |
Generalized epilepsy with febrile seizures plus, type 2 [RCV002289159] |
Chr2:165998037..165998039 [GRCh38]
Chr2:166854547..166854549 [GRCh37]
Chr2:2q24.3 |
likely pathogenic |
| NM_001165963.4(SCN1A):c.2219A>T (p.Lys740Ile) |
single nucleotide variant |
not provided [RCV003149213] |
Chr2:166041427 [GRCh38]
Chr2:166897937 [GRCh37]
Chr2:2q24.3 |
uncertain significance |
| NM_001165963.4(SCN1A):c.5303G>A (p.Ser1768Asn) |
single nucleotide variant |
not provided [RCV002474243] |
Chr2:165991972 [GRCh38]
Chr2:166848482 [GRCh37]
Chr2:2q24.3 |
pathogenic |
| NM_001165963.4(SCN1A):c.4778T>A (p.Ile1593Asn) |
single nucleotide variant |
Generalized epilepsy with febrile seizures plus, type 2 [RCV002468856] |
Chr2:165994220 [GRCh38]
Chr2:166850730 [GRCh37]
Chr2:2q24.3 |
likely pathogenic |
| NM_001165963.4(SCN1A):c.1064G>A (p.Gly355Asp) |
single nucleotide variant |
Generalized epilepsy with febrile seizures plus, type 2 [RCV002463568] |
Chr2:166047733 [GRCh38]
Chr2:166904243 [GRCh37]
Chr2:2q24.3 |
pathogenic |
| NM_001165963.4(SCN1A):c.1234T>G (p.Phe412Val) |
single nucleotide variant |
Early infantile epileptic encephalopathy with suppression bursts [RCV002302182] |
Chr2:166046913 [GRCh38]
Chr2:166903423 [GRCh37]
Chr2:2q24.3 |
pathogenic|uncertain significance |
| NM_001165963.4(SCN1A):c.603-3C>G |
single nucleotide variant |
Severe myoclonic epilepsy in infancy [RCV003128289] |
Chr2:166052946 [GRCh38]
Chr2:166909456 [GRCh37]
Chr2:2q24.3 |
uncertain significance |
| NM_001165963.4(SCN1A):c.2671G>A (p.Gly891Arg) |
single nucleotide variant |
Generalized epilepsy with febrile seizures plus, type 2 [RCV002466353] |
Chr2:166038051 [GRCh38]
Chr2:166894561 [GRCh37]
Chr2:2q24.3 |
likely pathogenic |
| NM_001165963.4(SCN1A):c.1210del (p.Val404fs) |
deletion |
Generalized epilepsy with febrile seizures plus, type 2 [RCV002471827] |
Chr2:166046937 [GRCh38]
Chr2:166903447 [GRCh37]
Chr2:2q24.3 |
pathogenic |
| NM_001165963.4(SCN1A):c.1130_1131delinsAC (p.Arg377His) |
indel |
Generalized epilepsy with febrile seizures plus, type 2 [RCV002463566] |
Chr2:166047666..166047667 [GRCh38]
Chr2:166904176..166904177 [GRCh37]
Chr2:2q24.3 |
likely pathogenic |
| NM_001165963.4(SCN1A):c.314C>A (p.Thr105Asn) |
single nucleotide variant |
Early infantile epileptic encephalopathy with suppression bursts [RCV003103167]|Severe myoclonic epilepsy in infancy [RCV002463978] |
Chr2:166058639 [GRCh38]
Chr2:166915149 [GRCh37]
Chr2:2q24.3 |
likely pathogenic|uncertain significance |
| NM_001165963.4(SCN1A):c.5316A>G (p.Ile1772Met) |
single nucleotide variant |
Early infantile epileptic encephalopathy with suppression bursts [RCV003753237]|Inborn genetic diseases [RCV002344673] |
Chr2:165991959 [GRCh38]
Chr2:166848469 [GRCh37]
Chr2:2q24.3 |
uncertain significance |
| NM_001165963.4(SCN1A):c.3646G>C (p.Glu1216Gln) |
single nucleotide variant |
Generalized epilepsy with febrile seizures plus, type 2 [RCV002463567] |
Chr2:166013803 [GRCh38]
Chr2:166870313 [GRCh37]
Chr2:2q24.3 |
pathogenic |
| NM_001165963.4(SCN1A):c.4003-603T>C |
single nucleotide variant |
Severe myoclonic epilepsy in infancy [RCV002467422] |
Chr2:166003356 [GRCh38]
Chr2:166859866 [GRCh37]
Chr2:2q24.3 |
uncertain significance |
| NM_001165963.4(SCN1A):c.4837A>G (p.Ile1613Val) |
single nucleotide variant |
Generalized epilepsy with febrile seizures plus, type 2 [RCV002471752] |
Chr2:165994161 [GRCh38]
Chr2:166850671 [GRCh37]
Chr2:2q24.3 |
uncertain significance |
| NM_001165963.4(SCN1A):c.2141T>C (p.Met714Thr) |
single nucleotide variant |
Early infantile epileptic encephalopathy with suppression bursts [RCV002296712] |
Chr2:166042327 [GRCh38]
Chr2:166898837 [GRCh37]
Chr2:2q24.3 |
uncertain significance |
| NM_001165963.4(SCN1A):c.3185T>G (p.Met1062Arg) |
single nucleotide variant |
Early infantile epileptic encephalopathy with suppression bursts [RCV002299399] |
Chr2:166036292 [GRCh38]
Chr2:166892802 [GRCh37]
Chr2:2q24.3 |
uncertain significance |
| NM_001165963.4(SCN1A):c.655dup (p.Arg219fs) |
duplication |
Inborn genetic diseases [RCV002364400] |
Chr2:166052890..166052891 [GRCh38]
Chr2:166909400..166909401 [GRCh37]
Chr2:2q24.3 |
pathogenic |
| NM_001165963.4(SCN1A):c.2470C>A (p.Pro824Thr) |
single nucleotide variant |
Early infantile epileptic encephalopathy with suppression bursts [RCV002304510] |
Chr2:166039542 [GRCh38]
Chr2:166896052 [GRCh37]
Chr2:2q24.3 |
uncertain significance |
| NM_001165963.4(SCN1A):c.23C>T (p.Pro8Leu) |
single nucleotide variant |
not provided [RCV003235841] |
Chr2:166073599 [GRCh38]
Chr2:166930109 [GRCh37]
Chr2:2q24.3 |
uncertain significance |
| NM_001165963.4(SCN1A):c.5819T>A (p.Phe1940Tyr) |
single nucleotide variant |
Early infantile epileptic encephalopathy with suppression bursts [RCV002304639] |
Chr2:165991456 [GRCh38]
Chr2:166847966 [GRCh37]
Chr2:2q24.3 |
uncertain significance |
| NM_001165963.4(SCN1A):c.3182G>T (p.Cys1061Phe) |
single nucleotide variant |
Early infantile epileptic encephalopathy with suppression bursts [RCV003588807]|Inborn genetic diseases [RCV002322759]|not provided [RCV003138168] |
Chr2:166036295 [GRCh38]
Chr2:166892805 [GRCh37]
Chr2:2q24.3 |
uncertain significance |
| NM_001165963.4(SCN1A):c.2591T>A (p.Leu864Gln) |
single nucleotide variant |
Early infantile epileptic encephalopathy with suppression bursts [RCV002303584] |
Chr2:166038131 [GRCh38]
Chr2:166894641 [GRCh37]
Chr2:2q24.3 |
uncertain significance |
| NM_001165963.4(SCN1A):c.1556A>G (p.Glu519Gly) |
single nucleotide variant |
Early infantile epileptic encephalopathy with suppression bursts [RCV002304974] |
Chr2:166045149 [GRCh38]
Chr2:166901659 [GRCh37]
Chr2:2q24.3 |
uncertain significance |
| NM_001165963.4(SCN1A):c.3685C>T (p.Leu1229Phe) |
single nucleotide variant |
Early infantile epileptic encephalopathy with suppression bursts [RCV002303641] |
Chr2:166013764 [GRCh38]
Chr2:166870274 [GRCh37]
Chr2:2q24.3 |
uncertain significance |
| NM_001165963.4(SCN1A):c.1770C>A (p.Phe590Leu) |
single nucleotide variant |
Early infantile epileptic encephalopathy with suppression bursts [RCV002305172] |
Chr2:166043942 [GRCh38]
Chr2:166900452 [GRCh37]
Chr2:2q24.3 |
uncertain significance |
| NM_001165963.4(SCN1A):c.2977A>G (p.Ser993Gly) |
single nucleotide variant |
Early infantile epileptic encephalopathy with suppression bursts [RCV002305222] |
Chr2:166036500 [GRCh38]
Chr2:166893010 [GRCh37]
Chr2:2q24.3 |
uncertain significance |
| NM_001165963.4(SCN1A):c.2287C>A (p.Leu763Met) |
single nucleotide variant |
Early infantile epileptic encephalopathy with suppression bursts [RCV002299706] |
Chr2:166041359 [GRCh38]
Chr2:166897869 [GRCh37]
Chr2:2q24.3 |
uncertain significance |
| NM_001165963.4(SCN1A):c.3672T>G (p.Ile1224Met) |
single nucleotide variant |
Early infantile epileptic encephalopathy with suppression bursts [RCV002295622] |
Chr2:166013777 [GRCh38]
Chr2:166870287 [GRCh37]
Chr2:2q24.3 |
uncertain significance |
| NM_001165963.4(SCN1A):c.2508C>A (p.Asp836Glu) |
single nucleotide variant |
Developmental and epileptic encephalopathy 6B [RCV003389908]|Inborn genetic diseases [RCV002431152] |
Chr2:166039504 [GRCh38]
Chr2:166896014 [GRCh37]
Chr2:2q24.3 |
uncertain significance|not provided |
| NM_001165963.4(SCN1A):c.5174_5179del (p.Gly1725_Trp1726del) |
deletion |
Inborn genetic diseases [RCV002338406] |
Chr2:165992096..165992101 [GRCh38]
Chr2:166848606..166848611 [GRCh37]
Chr2:2q24.3 |
likely pathogenic |
| NM_001165963.4(SCN1A):c.4088T>C (p.Ile1363Thr) |
single nucleotide variant |
Early infantile epileptic encephalopathy with suppression bursts [RCV002296817] |
Chr2:166002668 [GRCh38]
Chr2:166859178 [GRCh37]
Chr2:2q24.3 |
uncertain significance |
| NM_001165963.4(SCN1A):c.3680T>C (p.Met1227Thr) |
single nucleotide variant |
Early infantile epileptic encephalopathy with suppression bursts [RCV002297858] |
Chr2:166013769 [GRCh38]
Chr2:166870279 [GRCh37]
Chr2:2q24.3 |
uncertain significance |
| NM_001165963.4(SCN1A):c.2431T>C (p.Phe811Leu) |
single nucleotide variant |
Early infantile epileptic encephalopathy with suppression bursts [RCV002296061] |
Chr2:166039581 [GRCh38]
Chr2:166896091 [GRCh37]
Chr2:2q24.3 |
likely pathogenic|uncertain significance |
| NM_001165963.4(SCN1A):c.3217dup (p.Leu1073fs) |
duplication |
Inborn genetic diseases [RCV002324649] |
Chr2:166036259..166036260 [GRCh38]
Chr2:166892769..166892770 [GRCh37]
Chr2:2q24.3 |
pathogenic |
| NM_001165963.4(SCN1A):c.5944T>C (p.Cys1982Arg) |
single nucleotide variant |
Inborn genetic diseases [RCV002355941] |
Chr2:165991331 [GRCh38]
Chr2:166847841 [GRCh37]
Chr2:2q24.3 |
uncertain significance |
| NM_001165963.4(SCN1A):c.3813G>A (p.Trp1271Ter) |
single nucleotide variant |
Inborn genetic diseases [RCV002355267] |
Chr2:166012175 [GRCh38]
Chr2:166868685 [GRCh37]
Chr2:2q24.3 |
pathogenic |
| NM_001165963.4(SCN1A):c.3191A>G (p.Asn1064Ser) |
single nucleotide variant |
Early infantile epileptic encephalopathy with suppression bursts [RCV003753233]|Inborn genetic diseases [RCV002322868] |
Chr2:166036286 [GRCh38]
Chr2:166892796 [GRCh37]
Chr2:2q24.3 |
uncertain significance |
| NM_001165963.4(SCN1A):c.1694C>T (p.Ser565Leu) |
single nucleotide variant |
Inborn genetic diseases [RCV002406205] |
Chr2:166044018 [GRCh38]
Chr2:166900528 [GRCh37]
Chr2:2q24.3 |
uncertain significance |
| NM_001165963.4(SCN1A):c.4093G>T (p.Gly1365Cys) |
single nucleotide variant |
Inborn genetic diseases [RCV002323258] |
Chr2:166002663 [GRCh38]
Chr2:166859173 [GRCh37]
Chr2:2q24.3 |
uncertain significance |
| NM_001165963.4(SCN1A):c.344A>T (p.Asn115Ile) |
single nucleotide variant |
Inborn genetic diseases [RCV002457183] |
Chr2:166058609 [GRCh38]
Chr2:166915119 [GRCh37]
Chr2:2q24.3 |
uncertain significance |
| NM_001165963.4(SCN1A):c.2946+4T>G |
single nucleotide variant |
Inborn genetic diseases [RCV002440216] |
Chr2:166037772 [GRCh38]
Chr2:166894282 [GRCh37]
Chr2:2q24.3 |
uncertain significance |
| NM_001165963.4(SCN1A):c.5770C>T (p.Arg1924Cys) |
single nucleotide variant |
Early infantile epileptic encephalopathy with suppression bursts [RCV002301778] |
Chr2:165991505 [GRCh38]
Chr2:166848015 [GRCh37]
Chr2:2q24.3 |
uncertain significance |
| NM_001165963.4(SCN1A):c.5255T>G (p.Val1752Gly) |
single nucleotide variant |
Early infantile epileptic encephalopathy with suppression bursts [RCV002295551] |
Chr2:165992020 [GRCh38]
Chr2:166848530 [GRCh37]
Chr2:2q24.3 |
uncertain significance |
| NM_001165963.4(SCN1A):c.509T>A (p.Leu170His) |
single nucleotide variant |
Early infantile epileptic encephalopathy with suppression bursts [RCV002299940] |
Chr2:166054731 [GRCh38]
Chr2:166911241 [GRCh37]
Chr2:2q24.3 |
uncertain significance |
| NM_001165963.4(SCN1A):c.4391T>C (p.Val1464Ala) |
single nucleotide variant |
Early infantile epileptic encephalopathy with suppression bursts [RCV003753235]|Inborn genetic diseases [RCV002333655] |
Chr2:165998123 [GRCh38]
Chr2:166854633 [GRCh37]
Chr2:2q24.3 |
uncertain significance |
| NM_001165963.4(SCN1A):c.4327G>C (p.Asp1443His) |
single nucleotide variant |
Inborn genetic diseases [RCV002332074] |
Chr2:165999734 [GRCh38]
Chr2:166856244 [GRCh37]
Chr2:2q24.3 |
likely pathogenic |
| NM_001165963.4(SCN1A):c.4329T>C (p.Asp1443=) |
single nucleotide variant |
Inborn genetic diseases [RCV002332090] |
Chr2:165999732 [GRCh38]
Chr2:166856242 [GRCh37]
Chr2:2q24.3 |
likely benign |
| NM_001165963.4(SCN1A):c.2123C>T (p.Ser708Phe) |
single nucleotide variant |
Early infantile epileptic encephalopathy with suppression bursts [RCV002301869] |
Chr2:166042345 [GRCh38]
Chr2:166898855 [GRCh37]
Chr2:2q24.3 |
uncertain significance |
| NM_001165963.4(SCN1A):c.1205T>G (p.Phe402Cys) |
single nucleotide variant |
Early infantile epileptic encephalopathy with suppression bursts [RCV002299994] |
Chr2:166046942 [GRCh38]
Chr2:166903452 [GRCh37]
Chr2:2q24.3 |
uncertain significance |
| NM_001165963.4(SCN1A):c.1200_1202del (p.Met400del) |
deletion |
Inborn genetic diseases [RCV002347223] |
Chr2:166046945..166046947 [GRCh38]
Chr2:166903455..166903457 [GRCh37]
Chr2:2q24.3 |
pathogenic |
| NM_001165963.4(SCN1A):c.5591G>C (p.Cys1864Ser) |
single nucleotide variant |
Early infantile epileptic encephalopathy with suppression bursts [RCV003753238]|Inborn genetic diseases [RCV002344824] |
Chr2:165991684 [GRCh38]
Chr2:166848194 [GRCh37]
Chr2:2q24.3 |
uncertain significance |
| NM_001165963.4(SCN1A):c.3667T>G (p.Phe1223Val) |
single nucleotide variant |
Early infantile epileptic encephalopathy with suppression bursts [RCV002300330] |
Chr2:166013782 [GRCh38]
Chr2:166870292 [GRCh37]
Chr2:2q24.3 |
uncertain significance |
| NM_001165963.4(SCN1A):c.29G>C (p.Gly10Ala) |
single nucleotide variant |
Early infantile epileptic encephalopathy with suppression bursts [RCV002295971] |
Chr2:166073593 [GRCh38]
Chr2:166930103 [GRCh37]
Chr2:2q24.3 |
uncertain significance |
| NM_001165963.4(SCN1A):c.2177-4C>A |
single nucleotide variant |
Inborn genetic diseases [RCV002432825] |
Chr2:166041473 [GRCh38]
Chr2:166897983 [GRCh37]
Chr2:2q24.3 |
uncertain significance |
| NM_001165963.4(SCN1A):c.3623G>C (p.Arg1208Thr) |
single nucleotide variant |
Early infantile epileptic encephalopathy with suppression bursts [RCV002300390] |
Chr2:166013826 [GRCh38]
Chr2:166870336 [GRCh37]
Chr2:2q24.3 |
uncertain significance |
| NM_001165963.4(SCN1A):c.3358G>T (p.Gly1120Ter) |
single nucleotide variant |
Inborn genetic diseases [RCV002321037] |
Chr2:166036119 [GRCh38]
Chr2:166892629 [GRCh37]
Chr2:2q24.3 |
pathogenic |
| NM_001165963.4(SCN1A):c.4154T>G (p.Phe1385Cys) |
single nucleotide variant |
Inborn genetic diseases [RCV002333267] |
Chr2:166002602 [GRCh38]
Chr2:166859112 [GRCh37]
Chr2:2q24.3 |
likely pathogenic |
| NM_001165963.4(SCN1A):c.474-2A>G |
single nucleotide variant |
Inborn genetic diseases [RCV002335526] |
Chr2:166054768 [GRCh38]
Chr2:166911278 [GRCh37]
Chr2:2q24.3 |
pathogenic |
| NM_001165963.4(SCN1A):c.4035A>G (p.Pro1345=) |
single nucleotide variant |
Early infantile epileptic encephalopathy with suppression bursts [RCV002730945] |
Chr2:166002721 [GRCh38]
Chr2:166859231 [GRCh37]
Chr2:2q24.3 |
likely benign |
| NM_001165963.4(SCN1A):c.5226C>A (p.Asp1742Glu) |
single nucleotide variant |
Generalized epilepsy with febrile seizures plus, type 2 [RCV002510645] |
Chr2:165992049 [GRCh38]
Chr2:166848559 [GRCh37]
Chr2:2q24.3 |
uncertain significance |
| NM_001165963.4(SCN1A):c.4218T>A (p.Ala1406=) |
single nucleotide variant |
Early infantile epileptic encephalopathy with suppression bursts [RCV003032995] |
Chr2:166002538 [GRCh38]
Chr2:166859048 [GRCh37]
Chr2:2q24.3 |
likely benign |
| NM_001165963.4(SCN1A):c.2167del (p.Thr723fs) |
deletion |
Severe myoclonic epilepsy in infancy [RCV002510743] |
Chr2:166042301 [GRCh38]
Chr2:166898811 [GRCh37]
Chr2:2q24.3 |
likely pathogenic |
| NM_001165963.4(SCN1A):c.53_55del (p.Thr18del) |
deletion |
not provided [RCV002511990] |
Chr2:166073567..166073569 [GRCh38]
Chr2:166930077..166930079 [GRCh37]
Chr2:2q24.3 |
likely pathogenic |
| NM_001165963.4(SCN1A):c.947C>A (p.Ser316Ter) |
single nucleotide variant |
Early infantile epileptic encephalopathy with suppression bursts [RCV002880770]|Severe myoclonic epilepsy in infancy [RCV003483899] |
Chr2:166051736 [GRCh38]
Chr2:166908246 [GRCh37]
Chr2:2q24.3 |
pathogenic |
| NM_001165963.4(SCN1A):c.1755A>G (p.Gly585=) |
single nucleotide variant |
Early infantile epileptic encephalopathy with suppression bursts [RCV003014055] |
Chr2:166043957 [GRCh38]
Chr2:166900467 [GRCh37]
Chr2:2q24.3 |
likely benign |
| NM_001165963.4(SCN1A):c.5773G>A (p.Ala1925Thr) |
single nucleotide variant |
Early infantile epileptic encephalopathy with suppression bursts [RCV002972164]|not provided [RCV003318735] |
Chr2:165991502 [GRCh38]
Chr2:166848012 [GRCh37]
Chr2:2q24.3 |
uncertain significance |
| NM_001165963.4(SCN1A):c.1327G>T (p.Glu443Ter) |
single nucleotide variant |
Early infantile epileptic encephalopathy with suppression bursts [RCV003074920] |
Chr2:166046820 [GRCh38]
Chr2:166903330 [GRCh37]
Chr2:2q24.3 |
pathogenic |
| NM_001165963.4(SCN1A):c.5929A>G (p.Met1977Val) |
single nucleotide variant |
Early infantile epileptic encephalopathy with suppression bursts [RCV002750763] |
Chr2:165991346 [GRCh38]
Chr2:166847856 [GRCh37]
Chr2:2q24.3 |
uncertain significance |
| NM_001165963.4(SCN1A):c.4884T>A (p.Tyr1628Ter) |
single nucleotide variant |
Early infantile epileptic encephalopathy with suppression bursts [RCV002569439]|Generalized epilepsy with febrile seizures plus, type 2 [RCV002510640]|Severe myoclonic epilepsy in infancy [RCV003493962] |
Chr2:165992391 [GRCh38]
Chr2:166848901 [GRCh37]
Chr2:2q24.3 |
pathogenic|uncertain significance |
| NM_001165963.4(SCN1A):c.4476+16A>G |
single nucleotide variant |
Early infantile epileptic encephalopathy with suppression bursts [RCV002730406] |
Chr2:165998022 [GRCh38]
Chr2:166854532 [GRCh37]
Chr2:2q24.3 |
likely benign |
| NM_001165963.4(SCN1A):c.1223del (p.Phe408fs) |
deletion |
Severe myoclonic epilepsy in infancy [RCV002510676] |
Chr2:166046924 [GRCh38]
Chr2:166903434 [GRCh37]
Chr2:2q24.3 |
likely pathogenic |
| NM_001165963.4(SCN1A):c.2183A>G (p.Glu728Gly) |
single nucleotide variant |
Early infantile epileptic encephalopathy with suppression bursts [RCV002615581] |
Chr2:166041463 [GRCh38]
Chr2:166897973 [GRCh37]
Chr2:2q24.3 |
uncertain significance |
| NM_001165963.4(SCN1A):c.1432_1435del (p.Arg478fs) |
microsatellite |
Generalized epilepsy with febrile seizures plus, type 2 [RCV002510721] |
Chr2:166045270..166045273 [GRCh38]
Chr2:166901780..166901783 [GRCh37]
Chr2:2q24.3 |
likely pathogenic |
| NM_001165963.4(SCN1A):c.4958C>T (p.Ala1653Val) |
single nucleotide variant |
Early infantile epileptic encephalopathy with suppression bursts [RCV002994068] |
Chr2:165992317 [GRCh38]
Chr2:166848827 [GRCh37]
Chr2:2q24.3 |
pathogenic |
| NM_001165963.4(SCN1A):c.605A>G (p.Tyr202Cys) |
single nucleotide variant |
Early infantile epileptic encephalopathy with suppression bursts [RCV003014183] |
Chr2:166052941 [GRCh38]
Chr2:166909451 [GRCh37]
Chr2:2q24.3 |
uncertain significance |
| NM_001165963.4(SCN1A):c.4002+2051G>C |
single nucleotide variant |
Early infantile epileptic encephalopathy with suppression bursts [RCV002991618] |
Chr2:166007668 [GRCh38]
Chr2:166864178 [GRCh37]
Chr2:2q24.3 |
likely benign |
| NM_001165963.4(SCN1A):c.3475A>G (p.Ile1159Val) |
single nucleotide variant |
Inborn genetic diseases [RCV002906140] |
Chr2:166015682 [GRCh38]
Chr2:166872192 [GRCh37]
Chr2:2q24.3 |
uncertain significance |
| NM_001165963.4(SCN1A):c.4838_4843delinsCAAAATGGTAGGTTGTCTTACCTA (p.Ile1613_Ser1615delinsThrLysTrpTer) |
indel |
not provided [RCV002475442] |
Chr2:165994155..165994160 [GRCh38]
Chr2:166850665..166850670 [GRCh37]
Chr2:2q24.3 |
pathogenic |
| NM_001165963.4(SCN1A):c.1035_1038dup (p.Glu347fs) |
duplication |
Early infantile epileptic encephalopathy with suppression bursts [RCV003012209] |
Chr2:166047758..166047759 [GRCh38]
Chr2:166904268..166904269 [GRCh37]
Chr2:2q24.3 |
pathogenic |
| NM_001165963.4(SCN1A):c.2921T>G (p.Met974Arg) |
single nucleotide variant |
Early infantile epileptic encephalopathy with suppression bursts [RCV002880645] |
Chr2:166037801 [GRCh38]
Chr2:166894311 [GRCh37]
Chr2:2q24.3 |
pathogenic |
| NM_001165963.4(SCN1A):c.3920C>G (p.Ser1307Ter) |
single nucleotide variant |
Early infantile epileptic encephalopathy with suppression bursts [RCV002839049] |
Chr2:166009801 [GRCh38]
Chr2:166866311 [GRCh37]
Chr2:2q24.3 |
pathogenic |
| NM_001165963.4(SCN1A):c.4002+2073A>C |
single nucleotide variant |
Early infantile epileptic encephalopathy with suppression bursts [RCV002815787] |
Chr2:166007646 [GRCh38]
Chr2:166864156 [GRCh37]
Chr2:2q24.3 |
likely benign |
| NM_001165963.4(SCN1A):c.3793C>T (p.Leu1265=) |
single nucleotide variant |
Early infantile epileptic encephalopathy with suppression bursts [RCV003095828] |
Chr2:166012195 [GRCh38]
Chr2:166868705 [GRCh37]
Chr2:2q24.3 |
likely benign |
| NM_001165963.4(SCN1A):c.5795del (p.Lys1932fs) |
deletion |
Early infantile epileptic encephalopathy with suppression bursts [RCV002881428] |
Chr2:165991480 [GRCh38]
Chr2:166847990 [GRCh37]
Chr2:2q24.3 |
uncertain significance |
| NM_001165963.4(SCN1A):c.5352C>T (p.Val1784=) |
single nucleotide variant |
Early infantile epileptic encephalopathy with suppression bursts [RCV003012249] |
Chr2:165991923 [GRCh38]
Chr2:166848433 [GRCh37]
Chr2:2q24.3 |
likely benign |
| NM_001165963.4(SCN1A):c.2179_2180insA (p.Leu727fs) |
insertion |
Early infantile epileptic encephalopathy with suppression bursts [RCV002820016] |
Chr2:166041466..166041467 [GRCh38]
Chr2:166897976..166897977 [GRCh37]
Chr2:2q24.3 |
pathogenic |
| NM_001165963.4(SCN1A):c.4002+2499T>G |
single nucleotide variant |
Early infantile epileptic encephalopathy with suppression bursts [RCV003017727] |
Chr2:166007220 [GRCh38]
Chr2:166863730 [GRCh37]
Chr2:2q24.3 |
likely benign |
| NM_001165963.4(SCN1A):c.3206T>C (p.Ile1069Thr) |
single nucleotide variant |
Inborn genetic diseases [RCV002902055] |
Chr2:166036271 [GRCh38]
Chr2:166892781 [GRCh37]
Chr2:2q24.3 |
uncertain significance |
| NM_001165963.4(SCN1A):c.632del (p.Asn211fs) |
deletion |
Early infantile epileptic encephalopathy with suppression bursts [RCV002903398] |
Chr2:166052914 [GRCh38]
Chr2:166909424 [GRCh37]
Chr2:2q24.3 |
pathogenic |
| NM_001165963.4(SCN1A):c.265-9G>A |
single nucleotide variant |
Early infantile epileptic encephalopathy with suppression bursts [RCV002690301] |
Chr2:166058697 [GRCh38]
Chr2:166915207 [GRCh37]
Chr2:2q24.3 |
likely benign |
| NM_001165963.4(SCN1A):c.2192G>T (p.Arg731Met) |
single nucleotide variant |
Early infantile epileptic encephalopathy with suppression bursts [RCV002795120] |
Chr2:166041454 [GRCh38]
Chr2:166897964 [GRCh37]
Chr2:2q24.3 |
uncertain significance |
| NM_001165963.4(SCN1A):c.3846T>C (p.Asn1282=) |
single nucleotide variant |
Early infantile epileptic encephalopathy with suppression bursts [RCV003016736] |
Chr2:166012142 [GRCh38]
Chr2:166868652 [GRCh37]
Chr2:2q24.3 |
likely benign |
| NM_001165963.4(SCN1A):c.5905_5908dup (p.Thr1970fs) |
duplication |
Early infantile epileptic encephalopathy with suppression bursts [RCV003098974] |
Chr2:165991366..165991367 [GRCh38]
Chr2:166847876..166847877 [GRCh37]
Chr2:2q24.3 |
uncertain significance |
| NM_001165963.4(SCN1A):c.5983G>A (p.Glu1995Lys) |
single nucleotide variant |
Early infantile epileptic encephalopathy with suppression bursts [RCV002843885] |
Chr2:165991292 [GRCh38]
Chr2:166847802 [GRCh37]
Chr2:2q24.3 |
uncertain significance |
| NM_001165963.4(SCN1A):c.4343A>T (p.Glu1448Val) |
single nucleotide variant |
Early infantile epileptic encephalopathy with suppression bursts [RCV002837616] |
Chr2:165998171 [GRCh38]
Chr2:166854681 [GRCh37]
Chr2:2q24.3 |
uncertain significance |
| NM_001165963.4(SCN1A):c.3124del (p.Gln1042fs) |
deletion |
Early infantile epileptic encephalopathy with suppression bursts [RCV002995980] |
Chr2:166036353 [GRCh38]
Chr2:166892863 [GRCh37]
Chr2:2q24.3 |
pathogenic |
| NM_001165963.4(SCN1A):c.1232C>T (p.Ser411Leu) |
single nucleotide variant |
Early infantile epileptic encephalopathy with suppression bursts [RCV002819639] |
Chr2:166046915 [GRCh38]
Chr2:166903425 [GRCh37]
Chr2:2q24.3 |
pathogenic |
| NM_001165963.4(SCN1A):c.5664G>A (p.Gln1888=) |
single nucleotide variant |
Early infantile epileptic encephalopathy with suppression bursts [RCV002820048] |
Chr2:165991611 [GRCh38]
Chr2:166848121 [GRCh37]
Chr2:2q24.3 |
likely benign |
| NM_001165963.4(SCN1A):c.3618C>T (p.Asn1206=) |
single nucleotide variant |
Early infantile epileptic encephalopathy with suppression bursts [RCV002908413] |
Chr2:166013831 [GRCh38]
Chr2:166870341 [GRCh37]
Chr2:2q24.3 |
likely benign |
| NM_001165963.4(SCN1A):c.703A>G (p.Thr235Ala) |
single nucleotide variant |
Early infantile epileptic encephalopathy with suppression bursts [RCV002843802] |
Chr2:166051980 [GRCh38]
Chr2:166908490 [GRCh37]
Chr2:2q24.3 |
pathogenic |
| NM_001165963.4(SCN1A):c.5008T>C (p.Leu1670=) |
single nucleotide variant |
Early infantile epileptic encephalopathy with suppression bursts [RCV002996374]|not provided [RCV003138436] |
Chr2:165992267 [GRCh38]
Chr2:166848777 [GRCh37]
Chr2:2q24.3 |
likely benign|conflicting interpretations of pathogenicity|uncertain significance |
| NM_001165963.4(SCN1A):c.2891G>T (p.Gly964Val) |
single nucleotide variant |
Early infantile epileptic encephalopathy with suppression bursts [RCV002819354] |
Chr2:166037831 [GRCh38]
Chr2:166894341 [GRCh37]
Chr2:2q24.3 |
uncertain significance |
| NM_001165963.4(SCN1A):c.4288A>T (p.Thr1430Ser) |
single nucleotide variant |
Early infantile epileptic encephalopathy with suppression bursts [RCV002843428] |
Chr2:165999773 [GRCh38]
Chr2:166856283 [GRCh37]
Chr2:2q24.3 |
uncertain significance |
| NM_001165963.4(SCN1A):c.4002+2579T>C |
single nucleotide variant |
Early infantile epileptic encephalopathy with suppression bursts [RCV002819681] |
Chr2:166007140 [GRCh38]
Chr2:166863650 [GRCh37]
Chr2:2q24.3 |
likely benign |
| NM_001165963.4(SCN1A):c.3740C>T (p.Thr1247Met) |
single nucleotide variant |
Early infantile epileptic encephalopathy with suppression bursts [RCV002756623]|not provided [RCV003320899] |
Chr2:166012248 [GRCh38]
Chr2:166868758 [GRCh37]
Chr2:2q24.3 |
uncertain significance |
| NM_001165963.4(SCN1A):c.3706-18G>A |
single nucleotide variant |
Early infantile epileptic encephalopathy with suppression bursts [RCV002618856] |
Chr2:166012300 [GRCh38]
Chr2:166868810 [GRCh37]
Chr2:2q24.3 |
likely benign |
| NM_001165963.4(SCN1A):c.4002+2635T>C |
single nucleotide variant |
Early infantile epileptic encephalopathy with suppression bursts [RCV002690361] |
Chr2:166007084 [GRCh38]
Chr2:166863594 [GRCh37]
Chr2:2q24.3 |
likely benign |
| NM_001165963.4(SCN1A):c.5567T>G (p.Met1856Arg) |
single nucleotide variant |
Early infantile epileptic encephalopathy with suppression bursts [RCV002843828] |
Chr2:165991708 [GRCh38]
Chr2:166848218 [GRCh37]
Chr2:2q24.3 |
pathogenic |
| NM_001165963.4(SCN1A):c.2861A>G (p.Glu954Gly) |
single nucleotide variant |
Early infantile epileptic encephalopathy with suppression bursts [RCV002866124] |
Chr2:166037861 [GRCh38]
Chr2:166894371 [GRCh37]
Chr2:2q24.3 |
likely pathogenic |
| NM_001165963.4(SCN1A):c.367A>T (p.Lys123Ter) |
single nucleotide variant |
Early infantile epileptic encephalopathy with suppression bursts [RCV003035269] |
Chr2:166058586 [GRCh38]
Chr2:166915096 [GRCh37]
Chr2:2q24.3 |
pathogenic |
| NM_001165963.4(SCN1A):c.1940G>C (p.Cys647Ser) |
single nucleotide variant |
Inborn genetic diseases [RCV002772149] |
Chr2:166043772 [GRCh38]
Chr2:166900282 [GRCh37]
Chr2:2q24.3 |
uncertain significance |
| NM_001165963.4(SCN1A):c.3529_3531del (p.Pro1177del) |
deletion |
Early infantile epileptic encephalopathy with suppression bursts [RCV002755344] |
Chr2:166015626..166015628 [GRCh38]
Chr2:166872136..166872138 [GRCh37]
Chr2:2q24.3 |
uncertain significance |
| NM_001165963.4(SCN1A):c.1632A>G (p.Thr544=) |
single nucleotide variant |
Early infantile epileptic encephalopathy with suppression bursts [RCV002615993] |
Chr2:166045073 [GRCh38]
Chr2:166901583 [GRCh37]
Chr2:2q24.3 |
likely benign |
| NM_001165963.4(SCN1A):c.964+4_964+5insAAGATTCAAGTAAAAAAANNNNNGGCCGGGCGCGGTGGCTCACGCCTGTAA |
insertion |
Early infantile epileptic encephalopathy with suppression bursts [RCV002907920] |
Chr2:166051714..166051715 [GRCh38]
Chr2:166908224..166908225 [GRCh37]
Chr2:2q24.3 |
uncertain significance |
| NM_001165963.4(SCN1A):c.4002+2260T>C |
single nucleotide variant |
Early infantile epileptic encephalopathy with suppression bursts [RCV002970651] |
Chr2:166007459 [GRCh38]
Chr2:166863969 [GRCh37]
Chr2:2q24.3 |
likely benign |
| NM_001165963.4(SCN1A):c.694+17A>G |
single nucleotide variant |
Early infantile epileptic encephalopathy with suppression bursts [RCV002904838] |
Chr2:166052835 [GRCh38]
Chr2:166909345 [GRCh37]
Chr2:2q24.3 |
likely benign |
| NM_001165963.4(SCN1A):c.1678C>G (p.Arg560Gly) |
single nucleotide variant |
Early infantile epileptic encephalopathy with suppression bursts [RCV002995148] |
Chr2:166044034 [GRCh38]
Chr2:166900544 [GRCh37]
Chr2:2q24.3 |
uncertain significance |
| NM_001165963.4(SCN1A):c.2670G>A (p.Leu890=) |
single nucleotide variant |
Early infantile epileptic encephalopathy with suppression bursts [RCV002994108] |
Chr2:166038052 [GRCh38]
Chr2:166894562 [GRCh37]
Chr2:2q24.3 |
likely benign |
| NM_001165963.4(SCN1A):c.3525_3526insTCTTCAGGTTCT (p.Leu1175_Glu1176insSerSerGlySer) |
insertion |
Early infantile epileptic encephalopathy with suppression bursts [RCV002755345] |
Chr2:166015631..166015632 [GRCh38]
Chr2:166872141..166872142 [GRCh37]
Chr2:2q24.3 |
uncertain significance |
| NM_001165963.4(SCN1A):c.256A>C (p.Asn86His) |
single nucleotide variant |
Early infantile epileptic encephalopathy with suppression bursts [RCV002904618] |
Chr2:166073366 [GRCh38]
Chr2:166929876 [GRCh37]
Chr2:2q24.3 |
uncertain significance |
| NM_001165963.4(SCN1A):c.2391T>C (p.Asn797=) |
single nucleotide variant |
Early infantile epileptic encephalopathy with suppression bursts [RCV002771471] |
Chr2:166041255 [GRCh38]
Chr2:166897765 [GRCh37]
Chr2:2q24.3 |
likely benign |
| NM_001165963.4(SCN1A):c.3665C>T (p.Thr1222Ile) |
single nucleotide variant |
Early infantile epileptic encephalopathy with suppression bursts [RCV003753257]|Inborn genetic diseases [RCV002905094] |
Chr2:166013784 [GRCh38]
Chr2:166870294 [GRCh37]
Chr2:2q24.3 |
uncertain significance |
| NM_001165963.4(SCN1A):c.241G>T (p.Asp81Tyr) |
single nucleotide variant |
Early infantile epileptic encephalopathy with suppression bursts [RCV002880420] |
Chr2:166073381 [GRCh38]
Chr2:166929891 [GRCh37]
Chr2:2q24.3 |
likely pathogenic |
| NM_001165963.4(SCN1A):c.2589+1G>C |
single nucleotide variant |
Severe myoclonic epilepsy in infancy [RCV002510675] |
Chr2:166039422 [GRCh38]
Chr2:166895932 [GRCh37]
Chr2:2q24.3 |
likely pathogenic |
| NM_001165963.4(SCN1A):c.242A>T (p.Asp81Val) |
single nucleotide variant |
Early infantile epileptic encephalopathy with suppression bursts [RCV002858626] |
Chr2:166073380 [GRCh38]
Chr2:166929890 [GRCh37]
Chr2:2q24.3 |
likely pathogenic |
| NM_001165963.4(SCN1A):c.4476+14del |
deletion |
Early infantile epileptic encephalopathy with suppression bursts [RCV002971953] |
Chr2:165998024 [GRCh38]
Chr2:166854534 [GRCh37]
Chr2:2q24.3 |
likely benign |
| NM_001165963.4(SCN1A):c.1065T>A (p.Gly355=) |
single nucleotide variant |
Early infantile epileptic encephalopathy with suppression bursts [RCV002995404] |
Chr2:166047732 [GRCh38]
Chr2:166904242 [GRCh37]
Chr2:2q24.3 |
likely benign |
| NM_001165963.4(SCN1A):c.332_333insTTTTTTTTTTTTTTTTTTTTNNNNNNNNNNCCTCGTGATCCGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCGCGCCCGGCCTGCCCTGTACATTTT (p.Leu111delinsPhePhePhePhePhePhePheXaaXaaXaaXaaLeuValIleArgProProArgProProLysValLeuGlyLeuGlnAlaTer) |
microsatellite |
Early infantile epileptic encephalopathy with suppression bursts [RCV002837753] |
Chr2:166058620..166058621 [GRCh38]
Chr2:166915130..166915131 [GRCh37]
Chr2:2q24.3 |
pathogenic |
| NM_001165963.4(SCN1A):c.127G>C (p.Asp43His) |
single nucleotide variant |
Early infantile epileptic encephalopathy with suppression bursts [RCV003033203] |
Chr2:166073495 [GRCh38]
Chr2:166930005 [GRCh37]
Chr2:2q24.3 |
uncertain significance |
| NM_001165963.4(SCN1A):c.4901_4920delinsCGTCCGAGTGATTCG (p.Leu1634_Leu1640delinsProSerGluTer) |
indel |
Severe myoclonic epilepsy in infancy [RCV002510657] |
Chr2:165992355..165992374 [GRCh38]
Chr2:166848865..166848884 [GRCh37]
Chr2:2q24.3 |
uncertain significance |
| NM_001165963.4(SCN1A):c.549_558del (p.Thr184fs) |
deletion |
Early infantile epileptic encephalopathy with suppression bursts [RCV003014117] |
Chr2:166054682..166054691 [GRCh38]
Chr2:166911192..166911201 [GRCh37]
Chr2:2q24.3 |
pathogenic |
| NM_001165963.4(SCN1A):c.4594G>T (p.Gly1532Ter) |
single nucleotide variant |
Early infantile epileptic encephalopathy with suppression bursts [RCV002863149] |
Chr2:165994404 [GRCh38]
Chr2:166850914 [GRCh37]
Chr2:2q24.3 |
pathogenic |
| NM_001165963.4(SCN1A):c.4002+2410T>C |
single nucleotide variant |
Early infantile epileptic encephalopathy with suppression bursts [RCV003032711] |
Chr2:166007309 [GRCh38]
Chr2:166863819 [GRCh37]
Chr2:2q24.3 |
likely benign |
| NM_001165963.4(SCN1A):c.4293C>A (p.Phe1431Leu) |
single nucleotide variant |
Early infantile epileptic encephalopathy with suppression bursts [RCV002839333] |
Chr2:165999768 [GRCh38]
Chr2:166856278 [GRCh37]
Chr2:2q24.3 |
uncertain significance |
| NM_001165963.4(SCN1A):c.64_65del (p.Leu22fs) |
microsatellite |
Early infantile epileptic encephalopathy with suppression bursts [RCV002838235] |
Chr2:166073557..166073558 [GRCh38]
Chr2:166930067..166930068 [GRCh37]
Chr2:2q24.3 |
pathogenic |
| NM_001165963.4(SCN1A):c.5115del (p.Phe1705fs) |
deletion |
not provided [RCV002511989] |
Chr2:165992160 [GRCh38]
Chr2:166848670 [GRCh37]
Chr2:2q24.3 |
pathogenic |
| NM_001165963.4(SCN1A):c.2176+1G>A |
single nucleotide variant |
Early infantile epileptic encephalopathy with suppression bursts [RCV003074919] |
Chr2:166042291 [GRCh38]
Chr2:166898801 [GRCh37]
Chr2:2q24.3 |
pathogenic |
| NM_001165963.4(SCN1A):c.1171-3C>T |
single nucleotide variant |
Early infantile epileptic encephalopathy with suppression bursts [RCV003015774] |
Chr2:166046979 [GRCh38]
Chr2:166903489 [GRCh37]
Chr2:2q24.3 |
uncertain significance |
| NM_001165963.4(SCN1A):c.1817A>G (p.Asp606Gly) |
single nucleotide variant |
Early infantile epileptic encephalopathy with suppression bursts [RCV002972048] |
Chr2:166043895 [GRCh38]
Chr2:166900405 [GRCh37]
Chr2:2q24.3 |
uncertain significance |
| NM_001165963.4(SCN1A):c.3706-20_3706-19insCTGCTATAAAGACACATGCACACGTATGTTTATTGCGGCACTATTCACAATAGCAAAGACT |
insertion |
Early infantile epileptic encephalopathy with suppression bursts [RCV002991599] |
Chr2:166012301..166012302 [GRCh38]
Chr2:166868811..166868812 [GRCh37]
Chr2:2q24.3 |
uncertain significance |
| NM_001165963.4(SCN1A):c.3430-18T>C |
single nucleotide variant |
Early infantile epileptic encephalopathy with suppression bursts [RCV002862661] |
Chr2:166015745 [GRCh38]
Chr2:166872255 [GRCh37]
Chr2:2q24.3 |
likely benign |
| NM_001165963.4(SCN1A):c.709G>C (p.Val237Leu) |
single nucleotide variant |
Early infantile epileptic encephalopathy with suppression bursts [RCV003016923] |
Chr2:166051974 [GRCh38]
Chr2:166908484 [GRCh37]
Chr2:2q24.3 |
likely pathogenic|uncertain significance |
| NM_001165963.4(SCN1A):c.2824C>T (p.Leu942=) |
single nucleotide variant |
not provided [RCV002475441] |
Chr2:166037898 [GRCh38]
Chr2:166894408 [GRCh37]
Chr2:2q24.3 |
uncertain significance |
| NM_001165963.4(SCN1A):c.1051T>G (p.Cys351Gly) |
single nucleotide variant |
Early infantile epileptic encephalopathy with suppression bursts [RCV002881533] |
Chr2:166047746 [GRCh38]
Chr2:166904256 [GRCh37]
Chr2:2q24.3 |
likely pathogenic |
| NM_001165963.4(SCN1A):c.1167A>G (p.Gln389=) |
single nucleotide variant |
Early infantile epileptic encephalopathy with suppression bursts [RCV003098992] |
Chr2:166047630 [GRCh38]
Chr2:166904140 [GRCh37]
Chr2:2q24.3 |
uncertain significance |
| NM_001165963.4(SCN1A):c.407G>C (p.Cys136Ser) |
single nucleotide variant |
Inborn genetic diseases [RCV002864763] |
Chr2:166056477 [GRCh38]
Chr2:166912987 [GRCh37]
Chr2:2q24.3 |
uncertain significance |
| NM_001165963.4(SCN1A):c.2531T>G (p.Leu844Arg) |
single nucleotide variant |
Early infantile epileptic encephalopathy with suppression bursts [RCV002996871] |
Chr2:166039481 [GRCh38]
Chr2:166895991 [GRCh37]
Chr2:2q24.3 |
uncertain significance |
| NM_001165963.4(SCN1A):c.5792T>C (p.Leu1931Ser) |
single nucleotide variant |
Early infantile epileptic encephalopathy with suppression bursts [RCV002861311] |
Chr2:165991483 [GRCh38]
Chr2:166847993 [GRCh37]
Chr2:2q24.3 |
uncertain significance |
| NM_001165963.4(SCN1A):c.672G>C (p.Leu224Phe) |
single nucleotide variant |
not provided [RCV002462690] |
Chr2:166052874 [GRCh38]
Chr2:166909384 [GRCh37]
Chr2:2q24.3 |
likely pathogenic|conflicting interpretations of pathogenicity |
| NM_001165963.4(SCN1A):c.4002+2459G>A |
single nucleotide variant |
Early infantile epileptic encephalopathy with suppression bursts [RCV002731252] |
Chr2:166007260 [GRCh38]
Chr2:166863770 [GRCh37]
Chr2:2q24.3 |
likely benign |
| NM_001165963.4(SCN1A):c.4736T>G (p.Val1579Gly) |
single nucleotide variant |
Early infantile epileptic encephalopathy with suppression bursts [RCV003014877] |
Chr2:165994262 [GRCh38]
Chr2:166850772 [GRCh37]
Chr2:2q24.3 |
uncertain significance |
| NM_001165963.4(SCN1A):c.4002+2085_4002+2087del |
microsatellite |
Early infantile epileptic encephalopathy with suppression bursts [RCV002617448] |
Chr2:166007632..166007634 [GRCh38]
Chr2:166864142..166864144 [GRCh37]
Chr2:2q24.3 |
likely benign |
| NM_001165963.4(SCN1A):c.2248T>A (p.Cys750Ser) |
single nucleotide variant |
Early infantile epileptic encephalopathy with suppression bursts [RCV002755757] |
Chr2:166041398 [GRCh38]
Chr2:166897908 [GRCh37]
Chr2:2q24.3 |
uncertain significance |
| NM_001165963.4(SCN1A):c.1091G>A (p.Ser364Asn) |
single nucleotide variant |
Early infantile epileptic encephalopathy with suppression bursts [RCV003017173] |
Chr2:166047706 [GRCh38]
Chr2:166904216 [GRCh37]
Chr2:2q24.3 |
uncertain significance |
| NM_001165963.4(SCN1A):c.5035del (p.Phe1678_Leu1679insTer) |
deletion |
Early infantile epileptic encephalopathy with suppression bursts [RCV003054379] |
Chr2:165992240 [GRCh38]
Chr2:166848750 [GRCh37]
Chr2:2q24.3 |
pathogenic |
| NM_001165963.4(SCN1A):c.1085A>G (p.Tyr362Cys) |
single nucleotide variant |
Early infantile epileptic encephalopathy with suppression bursts [RCV003021836] |
Chr2:166047712 [GRCh38]
Chr2:166904222 [GRCh37]
Chr2:2q24.3 |
uncertain significance |
| NM_001165963.4(SCN1A):c.5767C>T (p.Gln1923Ter) |
single nucleotide variant |
Early infantile epileptic encephalopathy with suppression bursts [RCV002735242] |
Chr2:165991508 [GRCh38]
Chr2:166848018 [GRCh37]
Chr2:2q24.3 |
pathogenic |
| NM_001165963.4(SCN1A):c.4758A>T (p.Gly1586=) |
single nucleotide variant |
Early infantile epileptic encephalopathy with suppression bursts [RCV002846378] |
Chr2:165994240 [GRCh38]
Chr2:166850750 [GRCh37]
Chr2:2q24.3 |
uncertain significance |
| NM_001165963.4(SCN1A):c.4002+2614C>T |
single nucleotide variant |
Early infantile epileptic encephalopathy with suppression bursts [RCV003001911] |
Chr2:166007105 [GRCh38]
Chr2:166863615 [GRCh37]
Chr2:2q24.3 |
likely benign |
| NM_001165963.4(SCN1A):c.1959G>A (p.Leu653=) |
single nucleotide variant |
Early infantile epileptic encephalopathy with suppression bursts [RCV002914165] |
Chr2:166043753 [GRCh38]
Chr2:166900263 [GRCh37]
Chr2:2q24.3 |
likely benign |
| NM_001165963.4(SCN1A):c.2044-4dup |
duplication |
Early infantile epileptic encephalopathy with suppression bursts [RCV002786080] |
Chr2:166042427..166042428 [GRCh38]
Chr2:166898937..166898938 [GRCh37]
Chr2:2q24.3 |
likely benign |
| NM_001165963.4(SCN1A):c.408C>G (p.Cys136Trp) |
single nucleotide variant |
Early infantile epileptic encephalopathy with suppression bursts [RCV002825355] |
Chr2:166056476 [GRCh38]
Chr2:166912986 [GRCh37]
Chr2:2q24.3 |
uncertain significance |
| NM_001165963.4(SCN1A):c.4002+2548G>T |
single nucleotide variant |
Early infantile epileptic encephalopathy with suppression bursts [RCV002662797] |
Chr2:166007171 [GRCh38]
Chr2:166863681 [GRCh37]
Chr2:2q24.3 |
likely benign |
| NM_001165963.4(SCN1A):c.1047T>A (p.Tyr349Ter) |
single nucleotide variant |
Early infantile epileptic encephalopathy with suppression bursts [RCV002914463] |
Chr2:166047750 [GRCh38]
Chr2:166904260 [GRCh37]
Chr2:2q24.3 |
pathogenic |
| NM_001165963.4(SCN1A):c.1047dup (p.Met350fs) |
duplication |
Early infantile epileptic encephalopathy with suppression bursts [RCV002871539] |
Chr2:166047749..166047750 [GRCh38]
Chr2:166904259..166904260 [GRCh37]
Chr2:2q24.3 |
pathogenic |
| NM_001165963.4(SCN1A):c.4002+2388CTAA[3] |
microsatellite |
Early infantile epileptic encephalopathy with suppression bursts [RCV002663140] |
Chr2:166007323..166007324 [GRCh38]
Chr2:166863833..166863834 [GRCh37]
Chr2:2q24.3 |
likely benign |
| NM_001165963.4(SCN1A):c.1132C>T (p.Leu378=) |
single nucleotide variant |
Early infantile epileptic encephalopathy with suppression bursts [RCV003055151] |
Chr2:166047665 [GRCh38]
Chr2:166904175 [GRCh37]
Chr2:2q24.3 |
uncertain significance |
| NM_001165963.4(SCN1A):c.4144_4153del (p.Gly1382fs) |
deletion |
Early infantile epileptic encephalopathy with suppression bursts [RCV003055531] |
Chr2:166002603..166002612 [GRCh38]
Chr2:166859113..166859122 [GRCh37]
Chr2:2q24.3 |
pathogenic |
| NM_001165963.4(SCN1A):c.3982T>G (p.Ser1328Ala) |
single nucleotide variant |
Early infantile epileptic encephalopathy with suppression bursts [RCV002889282] |
Chr2:166009739 [GRCh38]
Chr2:166866249 [GRCh37]
Chr2:2q24.3 |
likely pathogenic |
| NM_001165963.4(SCN1A):c.3610del (p.Trp1204fs) |
deletion |
Early infantile epileptic encephalopathy with suppression bursts [RCV002871481] |
Chr2:166013839 [GRCh38]
Chr2:166870349 [GRCh37]
Chr2:2q24.3 |
pathogenic |
| NM_001165963.4(SCN1A):c.1850G>A (p.Arg617Lys) |
single nucleotide variant |
Early infantile epileptic encephalopathy with suppression bursts [RCV002926987] |
Chr2:166043862 [GRCh38]
Chr2:166900372 [GRCh37]
Chr2:2q24.3 |
uncertain significance |
| NM_001165963.4(SCN1A):c.2609C>A (p.Ala870Glu) |
single nucleotide variant |
Early infantile epileptic encephalopathy with suppression bursts [RCV003003066] |
Chr2:166038113 [GRCh38]
Chr2:166894623 [GRCh37]
Chr2:2q24.3 |
uncertain significance |
| NM_001165963.4(SCN1A):c.3692G>T (p.Ser1231Ile) |
single nucleotide variant |
Early infantile epileptic encephalopathy with suppression bursts [RCV002889741]|SCN1A-related condition [RCV003916554] |
Chr2:166013757 [GRCh38]
Chr2:166870267 [GRCh37]
Chr2:2q24.3 |
likely pathogenic |
| NM_001165963.4(SCN1A):c.4002+2471C>G |
single nucleotide variant |
Early infantile epileptic encephalopathy with suppression bursts [RCV003039500] |
Chr2:166007248 [GRCh38]
Chr2:166863758 [GRCh37]
Chr2:2q24.3 |
uncertain significance |
| NM_001165963.4(SCN1A):c.89C>G (p.Ala30Gly) |
single nucleotide variant |
Inborn genetic diseases [RCV002762456] |
Chr2:166073533 [GRCh38]
Chr2:166930043 [GRCh37]
Chr2:2q24.3 |
uncertain significance |
| NM_001165963.4(SCN1A):c.2486A>G (p.Gln829Arg) |
single nucleotide variant |
Early infantile epileptic encephalopathy with suppression bursts [RCV002800497]|not provided [RCV003108129] |
Chr2:166039526 [GRCh38]
Chr2:166896036 [GRCh37]
Chr2:2q24.3 |
uncertain significance |
| NM_001165963.4(SCN1A):c.5979T>C (p.Ile1993=) |
single nucleotide variant |
Early infantile epileptic encephalopathy with suppression bursts [RCV002923326] |
Chr2:165991296 [GRCh38]
Chr2:166847806 [GRCh37]
Chr2:2q24.3 |
likely benign |
| NM_001165963.4(SCN1A):c.4476_4476+2del |
deletion |
Early infantile epileptic encephalopathy with suppression bursts [RCV003039537] |
Chr2:165998036..165998038 [GRCh38]
Chr2:166854546..166854548 [GRCh37]
Chr2:2q24.3 |
pathogenic|likely pathogenic |
| NM_001165963.4(SCN1A):c.3879+12T>A |
single nucleotide variant |
Early infantile epileptic encephalopathy with suppression bursts [RCV003077949] |
Chr2:166012097 [GRCh38]
Chr2:166868607 [GRCh37]
Chr2:2q24.3 |
likely benign |
| NM_001165963.4(SCN1A):c.5395C>T (p.Pro1799Ser) |
single nucleotide variant |
Early infantile epileptic encephalopathy with suppression bursts [RCV002824205] |
Chr2:165991880 [GRCh38]
Chr2:166848390 [GRCh37]
Chr2:2q24.3 |
uncertain significance |
| NM_001165963.4(SCN1A):c.3525_3526insTTTTTTTTTTTTTTTTTTTTNNNNNNNNNNTATGAGATATCATCTCACACCAGTTAGAATGGCAATCATTAAAAAGTCAGGAAACAACAGGAACCTGAAGAAACTCTT (p.Glu1176delinsPhePhePhePhePhePheXaaXaaXaaXaaTyrGluIleSerSerHisThrSerTer) |
insertion |
Early infantile epileptic encephalopathy with suppression bursts [RCV003038642] |
Chr2:166015631..166015632 [GRCh38]
Chr2:166872141..166872142 [GRCh37]
Chr2:2q24.3 |
pathogenic |
| NM_001165963.4(SCN1A):c.4852+17G>T |
single nucleotide variant |
Early infantile epileptic encephalopathy with suppression bursts [RCV002848302] |
Chr2:165994129 [GRCh38]
Chr2:166850639 [GRCh37]
Chr2:2q24.3 |
likely benign |
| NM_001165963.4(SCN1A):c.1278_1279delinsAA (p.Tyr426_Glu427delinsTer) |
indel |
Early infantile epileptic encephalopathy with suppression bursts [RCV003002896] |
Chr2:166046868..166046869 [GRCh38]
Chr2:166903378..166903379 [GRCh37]
Chr2:2q24.3 |
pathogenic |
| NM_001165963.4(SCN1A):c.4002+2600A>C |
single nucleotide variant |
Early infantile epileptic encephalopathy with suppression bursts [RCV002593291] |
Chr2:166007119 [GRCh38]
Chr2:166863629 [GRCh37]
Chr2:2q24.3 |
likely benign |
| NM_001165963.4(SCN1A):c.5855A>T (p.Asn1952Ile) |
single nucleotide variant |
Early infantile epileptic encephalopathy with suppression bursts [RCV002923463] |
Chr2:165991420 [GRCh38]
Chr2:166847930 [GRCh37]
Chr2:2q24.3 |
uncertain significance |
| NM_001165963.4(SCN1A):c.2413T>G (p.Leu805Val) |
single nucleotide variant |
Early infantile epileptic encephalopathy with suppression bursts [RCV003079271] |
Chr2:166041233 [GRCh38]
Chr2:166897743 [GRCh37]
Chr2:2q24.3 |
uncertain significance |
| NM_001165963.4(SCN1A):c.1815A>G (p.Arg605=) |
single nucleotide variant |
Early infantile epileptic encephalopathy with suppression bursts [RCV002847256] |
Chr2:166043897 [GRCh38]
Chr2:166900407 [GRCh37]
Chr2:2q24.3 |
likely benign |
| NM_001165963.4(SCN1A):c.2951T>G (p.Leu984Arg) |
single nucleotide variant |
Early infantile epileptic encephalopathy with suppression bursts [RCV003100634] |
Chr2:166036526 [GRCh38]
Chr2:166893036 [GRCh37]
Chr2:2q24.3 |
likely pathogenic |
| NM_001165963.4(SCN1A):c.2891G>C (p.Gly964Ala) |
single nucleotide variant |
Early infantile epileptic encephalopathy with suppression bursts [RCV003053911] |
Chr2:166037831 [GRCh38]
Chr2:166894341 [GRCh37]
Chr2:2q24.3 |
uncertain significance |
| NM_001165963.4(SCN1A):c.5450C>A (p.Pro1817His) |
single nucleotide variant |
Early infantile epileptic encephalopathy with suppression bursts [RCV003018832] |
Chr2:165991825 [GRCh38]
Chr2:166848335 [GRCh37]
Chr2:2q24.3 |
uncertain significance |
| NM_001165963.4(SCN1A):c.264+12T>C |
single nucleotide variant |
Early infantile epileptic encephalopathy with suppression bursts [RCV002866593] |
Chr2:166073346 [GRCh38]
Chr2:166929856 [GRCh37]
Chr2:2q24.3 |
likely benign |
| NM_001165963.4(SCN1A):c.2300A>G (p.Asp767Gly) |
single nucleotide variant |
Early infantile epileptic encephalopathy with suppression bursts [RCV002820757] |
Chr2:166041346 [GRCh38]
Chr2:166897856 [GRCh37]
Chr2:2q24.3 |
uncertain significance |
| NM_001165963.4(SCN1A):c.1029-7C>G |
single nucleotide variant |
Early infantile epileptic encephalopathy with suppression bursts [RCV003037844] |
Chr2:166047775 [GRCh38]
Chr2:166904285 [GRCh37]
Chr2:2q24.3 |
uncertain significance |
| NM_001165963.4(SCN1A):c.2264T>G (p.Leu755Ter) |
single nucleotide variant |
Early infantile epileptic encephalopathy with suppression bursts [RCV002867490] |
Chr2:166041382 [GRCh38]
Chr2:166897892 [GRCh37]
Chr2:2q24.3 |
pathogenic |
| NM_001165963.4(SCN1A):c.3358G>A (p.Gly1120Arg) |
single nucleotide variant |
Inborn genetic diseases [RCV002822073] |
Chr2:166036119 [GRCh38]
Chr2:166892629 [GRCh37]
Chr2:2q24.3 |
uncertain significance |
| NM_001165963.4(SCN1A):c.4002+2281_4002+2287del |
deletion |
Early infantile epileptic encephalopathy with suppression bursts [RCV002948383] |
Chr2:166007432..166007438 [GRCh38]
Chr2:166863942..166863948 [GRCh37]
Chr2:2q24.3 |
likely benign |
| NM_001165963.4(SCN1A):c.5485_5489del (p.Ser1829fs) |
deletion |
Early infantile epileptic encephalopathy with suppression bursts [RCV002885271] |
Chr2:165991786..165991790 [GRCh38]
Chr2:166848296..166848300 [GRCh37]
Chr2:2q24.3 |
pathogenic |
| NM_001165963.4(SCN1A):c.3879+5G>C |
single nucleotide variant |
Early infantile epileptic encephalopathy with suppression bursts [RCV002796511] |
Chr2:166012104 [GRCh38]
Chr2:166868614 [GRCh37]
Chr2:2q24.3 |
pathogenic |
| NM_001165963.4(SCN1A):c.4002+2184T>G |
single nucleotide variant |
Early infantile epileptic encephalopathy with suppression bursts [RCV002886159] |
Chr2:166007535 [GRCh38]
Chr2:166864045 [GRCh37]
Chr2:2q24.3 |
likely benign |
| NM_001165963.4(SCN1A):c.5329G>A (p.Val1777Met) |
single nucleotide variant |
Early infantile epileptic encephalopathy with suppression bursts [RCV002843991] |
Chr2:165991946 [GRCh38]
Chr2:166848456 [GRCh37]
Chr2:2q24.3 |
uncertain significance |
| NM_001165963.4(SCN1A):c.3144T>C (p.Ile1048=) |
single nucleotide variant |
Early infantile epileptic encephalopathy with suppression bursts [RCV003018886] |
Chr2:166036333 [GRCh38]
Chr2:166892843 [GRCh37]
Chr2:2q24.3 |
likely benign |
| NM_001165963.4(SCN1A):c.5459C>T (p.Thr1820Ile) |
single nucleotide variant |
Early infantile epileptic encephalopathy with suppression bursts [RCV002797280] |
Chr2:165991816 [GRCh38]
Chr2:166848326 [GRCh37]
Chr2:2q24.3 |
uncertain significance |
| NM_001165963.4(SCN1A):c.2253del (p.Pro752fs) |
deletion |
Early infantile epileptic encephalopathy with suppression bursts [RCV002870806] |
Chr2:166041393 [GRCh38]
Chr2:166897903 [GRCh37]
Chr2:2q24.3 |
pathogenic |
| NM_001165963.4(SCN1A):c.696C>T (p.Gly232=) |
single nucleotide variant |
Early infantile epileptic encephalopathy with suppression bursts [RCV002923102] |
Chr2:166051987 [GRCh38]
Chr2:166908497 [GRCh37]
Chr2:2q24.3 |
likely benign |
| NM_001165963.4(SCN1A):c.5841C>A (p.Ile1947=) |
single nucleotide variant |
Early infantile epileptic encephalopathy with suppression bursts [RCV003078653] |
Chr2:165991434 [GRCh38]
Chr2:166847944 [GRCh37]
Chr2:2q24.3 |
likely benign |
| NM_001165963.4(SCN1A):c.4002+2089G>A |
single nucleotide variant |
Early infantile epileptic encephalopathy with suppression bursts [RCV002735091] |
Chr2:166007630 [GRCh38]
Chr2:166864140 [GRCh37]
Chr2:2q24.3 |
likely benign |
| NM_001165963.4(SCN1A):c.4906C>G (p.Arg1636Gly) |
single nucleotide variant |
Early infantile epileptic encephalopathy with suppression bursts [RCV002867072] |
Chr2:165992369 [GRCh38]
Chr2:166848879 [GRCh37]
Chr2:2q24.3 |
likely pathogenic |
| NM_001165963.4(SCN1A):c.4076T>C (p.Leu1359Pro) |
single nucleotide variant |
Early infantile epileptic encephalopathy with suppression bursts [RCV002846540] |
Chr2:166002680 [GRCh38]
Chr2:166859190 [GRCh37]
Chr2:2q24.3 |
uncertain significance |
| NM_001165963.4(SCN1A):c.4584C>T (p.Asn1528=) |
single nucleotide variant |
Early infantile epileptic encephalopathy with suppression bursts [RCV002735562] |
Chr2:165994414 [GRCh38]
Chr2:166850924 [GRCh37]
Chr2:2q24.3 |
likely benign |
| NM_001165963.4(SCN1A):c.3235G>A (p.Val1079Ile) |
single nucleotide variant |
Early infantile epileptic encephalopathy with suppression bursts [RCV002619910]|not provided [RCV003327587] |
Chr2:166036242 [GRCh38]
Chr2:166892752 [GRCh37]
Chr2:2q24.3 |
likely pathogenic|uncertain significance |
| NM_001165963.4(SCN1A):c.2194C>T (p.Gln732Ter) |
single nucleotide variant |
Early infantile epileptic encephalopathy with suppression bursts [RCV003002207] |
Chr2:166041452 [GRCh38]
Chr2:166897962 [GRCh37]
Chr2:2q24.3 |
pathogenic |
| NM_001165963.4(SCN1A):c.140A>G (p.Asn47Ser) |
single nucleotide variant |
Early infantile epileptic encephalopathy with suppression bursts [RCV002886300] |
Chr2:166073482 [GRCh38]
Chr2:166929992 [GRCh37]
Chr2:2q24.3 |
uncertain significance |
| NM_001165963.4(SCN1A):c.4002+2650del |
deletion |
Early infantile epileptic encephalopathy with suppression bursts [RCV002622606] |
Chr2:166007069 [GRCh38]
Chr2:166863579 [GRCh37]
Chr2:2q24.3 |
benign |
| NM_001165963.4(SCN1A):c.5863A>G (p.Ile1955Val) |
single nucleotide variant |
Early infantile epileptic encephalopathy with suppression bursts [RCV003077551]|Generalized epilepsy with febrile seizures plus, type 2 [RCV003455694] |
Chr2:165991412 [GRCh38]
Chr2:166847922 [GRCh37]
Chr2:2q24.3 |
uncertain significance |
| NM_001165963.4(SCN1A):c.4537A>T (p.Lys1513Ter) |
single nucleotide variant |
Early infantile epileptic encephalopathy with suppression bursts [RCV003038271] |
Chr2:165996057 [GRCh38]
Chr2:166852567 [GRCh37]
Chr2:2q24.3 |
pathogenic |
| NM_001165963.4(SCN1A):c.5227C>T (p.Pro1743Ser) |
single nucleotide variant |
Early infantile epileptic encephalopathy with suppression bursts [RCV003018835] |
Chr2:165992048 [GRCh38]
Chr2:166848558 [GRCh37]
Chr2:2q24.3 |
uncertain significance |
| NM_001165963.4(SCN1A):c.94G>A (p.Glu32Lys) |
single nucleotide variant |
Early infantile epileptic encephalopathy with suppression bursts [RCV002846399] |
Chr2:166073528 [GRCh38]
Chr2:166930038 [GRCh37]
Chr2:2q24.3 |
uncertain significance |
| NM_001165963.4(SCN1A):c.4855_4858dup (p.Phe1620fs) |
duplication |
Early infantile epileptic encephalopathy with suppression bursts [RCV002796224] |
Chr2:165992416..165992417 [GRCh38]
Chr2:166848926..166848927 [GRCh37]
Chr2:2q24.3 |
pathogenic |
| NM_001165963.4(SCN1A):c.3641T>A (p.Ile1214Lys) |
single nucleotide variant |
Early infantile epileptic encephalopathy with suppression bursts [RCV003021295] |
Chr2:166013808 [GRCh38]
Chr2:166870318 [GRCh37]
Chr2:2q24.3 |
pathogenic |
| NM_001165963.4(SCN1A):c.2548G>A (p.Ala850Thr) |
single nucleotide variant |
Early infantile epileptic encephalopathy with suppression bursts [RCV003077204] |
Chr2:166039464 [GRCh38]
Chr2:166895974 [GRCh37]
Chr2:2q24.3 |
uncertain significance |
| NM_001165963.4(SCN1A):c.1344T>C (p.Ile448=) |
single nucleotide variant |
Early infantile epileptic encephalopathy with suppression bursts [RCV002923403] |
Chr2:166046803 [GRCh38]
Chr2:166903313 [GRCh37]
Chr2:2q24.3 |
likely benign |
| NM_001165963.4(SCN1A):c.5643G>A (p.Glu1881=) |
single nucleotide variant |
Early infantile epileptic encephalopathy with suppression bursts [RCV002761219] |
Chr2:165991632 [GRCh38]
Chr2:166848142 [GRCh37]
Chr2:2q24.3 |
likely benign |
| NM_001165963.4(SCN1A):c.2403A>G (p.Thr801=) |
single nucleotide variant |
Early infantile epileptic encephalopathy with suppression bursts [RCV002619144] |
Chr2:166041243 [GRCh38]
Chr2:166897753 [GRCh37]
Chr2:2q24.3 |
uncertain significance |
| NM_001165963.4(SCN1A):c.613G>T (p.Glu205Ter) |
single nucleotide variant |
Early infantile epileptic encephalopathy with suppression bursts [RCV002847818] |
Chr2:166052933 [GRCh38]
Chr2:166909443 [GRCh37]
Chr2:2q24.3 |
pathogenic |
| NM_001165963.4(SCN1A):c.2511T>C (p.Gly837=) |
single nucleotide variant |
Early infantile epileptic encephalopathy with suppression bursts [RCV002591833] |
Chr2:166039501 [GRCh38]
Chr2:166896011 [GRCh37]
Chr2:2q24.3 |
likely benign |
| NM_001165963.4(SCN1A):c.85A>G (p.Ile29Val) |
single nucleotide variant |
Inborn genetic diseases [RCV002925807]|not provided [RCV003140191] |
Chr2:166073537 [GRCh38]
Chr2:166930047 [GRCh37]
Chr2:2q24.3 |
uncertain significance |
| NM_001165963.4(SCN1A):c.5150T>G (p.Leu1717Arg) |
single nucleotide variant |
Early infantile epileptic encephalopathy with suppression bursts [RCV002912990] |
Chr2:165992125 [GRCh38]
Chr2:166848635 [GRCh37]
Chr2:2q24.3 |
pathogenic |
| NM_001165963.4(SCN1A):c.5761A>T (p.Ile1921Phe) |
single nucleotide variant |
Early infantile epileptic encephalopathy with suppression bursts [RCV002825109] |
Chr2:165991514 [GRCh38]
Chr2:166848024 [GRCh37]
Chr2:2q24.3 |
uncertain significance |
| NM_001165963.4(SCN1A):c.1608C>T (p.Phe536=) |
single nucleotide variant |
Early infantile epileptic encephalopathy with suppression bursts [RCV002912511] |
Chr2:166045097 [GRCh38]
Chr2:166901607 [GRCh37]
Chr2:2q24.3 |
likely benign |
| NM_001165963.4(SCN1A):c.3051T>C (p.Asp1017=) |
single nucleotide variant |
Early infantile epileptic encephalopathy with suppression bursts [RCV002912513] |
Chr2:166036426 [GRCh38]
Chr2:166892936 [GRCh37]
Chr2:2q24.3 |
likely benign |
| NM_001165963.4(SCN1A):c.3167A>G (p.Asn1056Ser) |
single nucleotide variant |
Early infantile epileptic encephalopathy with suppression bursts [RCV002570189] |
Chr2:166036310 [GRCh38]
Chr2:166892820 [GRCh37]
Chr2:2q24.3 |
uncertain significance |
| NM_001165963.4(SCN1A):c.965-14_965-11del |
microsatellite |
Early infantile epileptic encephalopathy with suppression bursts [RCV002761658]|not provided [RCV003225243] |
Chr2:166048960..166048963 [GRCh38]
Chr2:166905470..166905473 [GRCh37]
Chr2:2q24.3 |
likely benign|uncertain significance |
| NM_001165963.4(SCN1A):c.2427G>A (p.Gly809=) |
single nucleotide variant |
Early infantile epileptic encephalopathy with suppression bursts [RCV002780641] |
Chr2:166039585 [GRCh38]
Chr2:166896095 [GRCh37]
Chr2:2q24.3 |
likely benign |
| NM_001165963.4(SCN1A):c.4002+2022T>C |
single nucleotide variant |
Early infantile epileptic encephalopathy with suppression bursts [RCV002912528] |
Chr2:166007697 [GRCh38]
Chr2:166864207 [GRCh37]
Chr2:2q24.3 |
likely benign |
| NM_001165963.4(SCN1A):c.4002+2044A>G |
single nucleotide variant |
Early infantile epileptic encephalopathy with suppression bursts [RCV002695657] |
Chr2:166007675 [GRCh38]
Chr2:166864185 [GRCh37]
Chr2:2q24.3 |
likely benign |
| NM_001165963.4(SCN1A):c.244C>T (p.Pro82Ser) |
single nucleotide variant |
Early infantile epileptic encephalopathy with suppression bursts [RCV002591648] |
Chr2:166073378 [GRCh38]
Chr2:166929888 [GRCh37]
Chr2:2q24.3 |
uncertain significance |
| NM_001165963.4(SCN1A):c.1377+9G>T |
single nucleotide variant |
Early infantile epileptic encephalopathy with suppression bursts [RCV002948891] |
Chr2:166046761 [GRCh38]
Chr2:166903271 [GRCh37]
Chr2:2q24.3 |
likely benign |
| NM_001165963.4(SCN1A):c.4002+1992T>C |
single nucleotide variant |
Early infantile epileptic encephalopathy with suppression bursts [RCV003018457] |
Chr2:166007727 [GRCh38]
Chr2:166864237 [GRCh37]
Chr2:2q24.3 |
likely benign |
| NM_001165963.4(SCN1A):c.3149C>T (p.Pro1050Leu) |
single nucleotide variant |
Early infantile epileptic encephalopathy with suppression bursts [RCV002824974] |
Chr2:166036328 [GRCh38]
Chr2:166892838 [GRCh37]
Chr2:2q24.3 |
uncertain significance |
| NM_001165963.4(SCN1A):c.4046A>C (p.Asn1349Thr) |
single nucleotide variant |
Early infantile epileptic encephalopathy with suppression bursts [RCV002999806] |
Chr2:166002710 [GRCh38]
Chr2:166859220 [GRCh37]
Chr2:2q24.3 |
pathogenic |
| NM_001165963.4(SCN1A):c.2431T>G (p.Phe811Val) |
single nucleotide variant |
Early infantile epileptic encephalopathy with suppression bursts [RCV002843978] |
Chr2:166039581 [GRCh38]
Chr2:166896091 [GRCh37]
Chr2:2q24.3 |
uncertain significance |
| NM_001165963.4(SCN1A):c.4002+2361C>G |
single nucleotide variant |
Early infantile epileptic encephalopathy with suppression bursts [RCV002872309] |
Chr2:166007358 [GRCh38]
Chr2:166863868 [GRCh37]
Chr2:2q24.3 |
pathogenic |
| NM_001165963.4(SCN1A):c.1217T>C (p.Val406Ala) |
single nucleotide variant |
Early infantile epileptic encephalopathy with suppression bursts [RCV003059647] |
Chr2:166046930 [GRCh38]
Chr2:166903440 [GRCh37]
Chr2:2q24.3 |
pathogenic |
| NM_001165963.4(SCN1A):c.4581+11T>C |
single nucleotide variant |
Early infantile epileptic encephalopathy with suppression bursts [RCV002575212] |
Chr2:165996002 [GRCh38]
Chr2:166852512 [GRCh37]
Chr2:2q24.3 |
likely benign |
| NM_001165963.4(SCN1A):c.2248T>G (p.Cys750Gly) |
single nucleotide variant |
Early infantile epileptic encephalopathy with suppression bursts [RCV003084693] |
Chr2:166041398 [GRCh38]
Chr2:166897908 [GRCh37]
Chr2:2q24.3 |
uncertain significance |
| NM_001165963.4(SCN1A):c.3836A>G (p.Tyr1279Cys) |
single nucleotide variant |
Early infantile epileptic encephalopathy with suppression bursts [RCV003008111] |
Chr2:166012152 [GRCh38]
Chr2:166868662 [GRCh37]
Chr2:2q24.3 |
uncertain significance |
| NM_001165963.4(SCN1A):c.602+5G>C |
single nucleotide variant |
Early infantile epileptic encephalopathy with suppression bursts [RCV002701274] |
Chr2:166054633 [GRCh38]
Chr2:166911143 [GRCh37]
Chr2:2q24.3 |
pathogenic |
| NM_001165963.4(SCN1A):c.4501_4502insGAGAAGAA (p.Thr1501fs) |
microsatellite |
Early infantile epileptic encephalopathy with suppression bursts [RCV002850931] |
Chr2:165996092..165996093 [GRCh38]
Chr2:166852602..166852603 [GRCh37]
Chr2:2q24.3 |
pathogenic |
| NM_001165963.4(SCN1A):c.3301G>C (p.Asp1101His) |
single nucleotide variant |
Early infantile epileptic encephalopathy with suppression bursts [RCV002891215] |
Chr2:166036176 [GRCh38]
Chr2:166892686 [GRCh37]
Chr2:2q24.3 |
uncertain significance |
| NM_001165963.4(SCN1A):c.3396T>C (p.Phe1132=) |
single nucleotide variant |
Early infantile epileptic encephalopathy with suppression bursts [RCV002766765] |
Chr2:166036081 [GRCh38]
Chr2:166892591 [GRCh37]
Chr2:2q24.3 |
likely benign |
| NM_001165963.4(SCN1A):c.4365A>C (p.Glu1455Asp) |
single nucleotide variant |
Early infantile epileptic encephalopathy with suppression bursts [RCV002596299] |
Chr2:165998149 [GRCh38]
Chr2:166854659 [GRCh37]
Chr2:2q24.3 |
uncertain significance |
| NM_001165963.4(SCN1A):c.5122G>A (p.Glu1708Lys) |
single nucleotide variant |
Early infantile epileptic encephalopathy with suppression bursts [RCV002958012] |
Chr2:165992153 [GRCh38]
Chr2:166848663 [GRCh37]
Chr2:2q24.3 |
pathogenic|uncertain significance |
| NM_001165963.4(SCN1A):c.693A>G (p.Pro231=) |
single nucleotide variant |
Early infantile epileptic encephalopathy with suppression bursts [RCV002876833] |
Chr2:166052853 [GRCh38]
Chr2:166909363 [GRCh37]
Chr2:2q24.3 |
pathogenic|uncertain significance |
| NM_001165963.4(SCN1A):c.3526_3530delinsTCTTCAGGTTCTGA (p.Glu1176_Pro1177delinsSerSerGlySerGlu) |
indel |
Early infantile epileptic encephalopathy with suppression bursts [RCV002917358] |
Chr2:166015627..166015631 [GRCh38]
Chr2:166872137..166872141 [GRCh37]
Chr2:2q24.3 |
likely pathogenic |
| NM_001165963.4(SCN1A):c.4748T>A (p.Leu1583Gln) |
single nucleotide variant |
Early infantile epileptic encephalopathy with suppression bursts [RCV002985305] |
Chr2:165994250 [GRCh38]
Chr2:166850760 [GRCh37]
Chr2:2q24.3 |
uncertain significance |
| NM_001165963.4(SCN1A):c.3696T>G (p.Ser1232Arg) |
single nucleotide variant |
Early infantile epileptic encephalopathy with suppression bursts [RCV003007379] |
Chr2:166013753 [GRCh38]
Chr2:166870263 [GRCh37]
Chr2:2q24.3 |
pathogenic|uncertain significance |
| NM_001165963.4(SCN1A):c.4002+2592G>A |
single nucleotide variant |
Early infantile epileptic encephalopathy with suppression bursts [RCV002876384] |
Chr2:166007127 [GRCh38]
Chr2:166863637 [GRCh37]
Chr2:2q24.3 |
likely benign |
| NM_001165963.4(SCN1A):c.1892T>C (p.Met631Thr) |
single nucleotide variant |
Early infantile epileptic encephalopathy with suppression bursts [RCV003006437] |
Chr2:166043820 [GRCh38]
Chr2:166900330 [GRCh37]
Chr2:2q24.3 |
uncertain significance |
| NM_001165963.4(SCN1A):c.1487A>G (p.Glu496Gly) |
single nucleotide variant |
Early infantile epileptic encephalopathy with suppression bursts [RCV002805837]|not provided [RCV003443082] |
Chr2:166045218 [GRCh38]
Chr2:166901728 [GRCh37]
Chr2:2q24.3 |
uncertain significance |
| NM_001165963.4(SCN1A):c.1184C>G (p.Ala395Gly) |
single nucleotide variant |
Early infantile epileptic encephalopathy with suppression bursts [RCV002805530]|not provided [RCV003159234] |
Chr2:166046963 [GRCh38]
Chr2:166903473 [GRCh37]
Chr2:2q24.3 |
likely pathogenic |
| NM_001165963.4(SCN1A):c.3695G>A (p.Ser1232Asn) |
single nucleotide variant |
Early infantile epileptic encephalopathy with suppression bursts [RCV002791510] |
Chr2:166013754 [GRCh38]
Chr2:166870264 [GRCh37]
Chr2:2q24.3 |
uncertain significance |
| NM_001165963.4(SCN1A):c.2273A>C (p.Lys758Thr) |
single nucleotide variant |
Early infantile epileptic encephalopathy with suppression bursts [RCV002830218] |
Chr2:166041373 [GRCh38]
Chr2:166897883 [GRCh37]
Chr2:2q24.3 |
likely pathogenic |
| NM_001165963.4(SCN1A):c.564_571del (p.Asp188fs) |
deletion |
Early infantile epileptic encephalopathy with suppression bursts [RCV002853352] |
Chr2:166054669..166054676 [GRCh38]
Chr2:166911179..166911186 [GRCh37]
Chr2:2q24.3 |
pathogenic |
| NM_001165963.4(SCN1A):c.373T>G (p.Leu125Val) |
single nucleotide variant |
Early infantile epileptic encephalopathy with suppression bursts [RCV002851277] |
Chr2:166058580 [GRCh38]
Chr2:166915090 [GRCh37]
Chr2:2q24.3 |
uncertain significance |
| NM_001165963.4(SCN1A):c.1842C>G (p.His614Gln) |
single nucleotide variant |
Early infantile epileptic encephalopathy with suppression bursts [RCV002643364] |
Chr2:166043870 [GRCh38]
Chr2:166900380 [GRCh37]
Chr2:2q24.3 |
uncertain significance |
| NM_001165963.4(SCN1A):c.5709T>A (p.Tyr1903Ter) |
single nucleotide variant |
Early infantile epileptic encephalopathy with suppression bursts [RCV002852822] |
Chr2:165991566 [GRCh38]
Chr2:166848076 [GRCh37]
Chr2:2q24.3 |
pathogenic |
| NM_001165963.4(SCN1A):c.3376A>G (p.Asn1126Asp) |
single nucleotide variant |
Early infantile epileptic encephalopathy with suppression bursts [RCV002575689] |
Chr2:166036101 [GRCh38]
Chr2:166892611 [GRCh37]
Chr2:2q24.3 |
uncertain significance |
| NM_001165963.4(SCN1A):c.6015A>G (p.Lys2005=) |
single nucleotide variant |
Early infantile epileptic encephalopathy with suppression bursts [RCV002928326] |
Chr2:165991260 [GRCh38]
Chr2:166847770 [GRCh37]
Chr2:2q24.3 |
likely benign |
| NM_001165963.4(SCN1A):c.3706-2A>G |
single nucleotide variant |
Early infantile epileptic encephalopathy with suppression bursts [RCV002664263] |
Chr2:166012284 [GRCh38]
Chr2:166868794 [GRCh37]
Chr2:2q24.3 |
pathogenic |
| NM_001165963.4(SCN1A):c.992del (p.Phe330_Leu331insTer) |
deletion |
Early infantile epileptic encephalopathy with suppression bursts [RCV002664267] |
Chr2:166048922 [GRCh38]
Chr2:166905432 [GRCh37]
Chr2:2q24.3 |
pathogenic |
| NM_001165963.4(SCN1A):c.5734C>G (p.Arg1912Gly) |
single nucleotide variant |
Early infantile epileptic encephalopathy with suppression bursts [RCV002829098] |
Chr2:165991541 [GRCh38]
Chr2:166848051 [GRCh37]
Chr2:2q24.3 |
pathogenic|uncertain significance |
| NM_001165963.4(SCN1A):c.5786A>G (p.His1929Arg) |
single nucleotide variant |
Early infantile epileptic encephalopathy with suppression bursts [RCV002786755] |
Chr2:165991489 [GRCh38]
Chr2:166847999 [GRCh37]
Chr2:2q24.3 |
uncertain significance |
| NM_001165963.4(SCN1A):c.4759G>C (p.Glu1587Gln) |
single nucleotide variant |
Early infantile epileptic encephalopathy with suppression bursts [RCV002850999] |
Chr2:165994239 [GRCh38]
Chr2:166850749 [GRCh37]
Chr2:2q24.3 |
likely pathogenic |
| NM_001165963.4(SCN1A):c.5012T>C (p.Phe1671Ser) |
single nucleotide variant |
Early infantile epileptic encephalopathy with suppression bursts [RCV003022759] |
Chr2:165992263 [GRCh38]
Chr2:166848773 [GRCh37]
Chr2:2q24.3 |
uncertain significance |
| NM_001165963.4(SCN1A):c.1044A>T (p.Gly348=) |
single nucleotide variant |
Early infantile epileptic encephalopathy with suppression bursts [RCV003040493] |
Chr2:166047753 [GRCh38]
Chr2:166904263 [GRCh37]
Chr2:2q24.3 |
likely benign |
| NM_001165963.4(SCN1A):c.1635T>G (p.Tyr545Ter) |
single nucleotide variant |
Early infantile epileptic encephalopathy with suppression bursts [RCV002872506] |
Chr2:166045070 [GRCh38]
Chr2:166901580 [GRCh37]
Chr2:2q24.3 |
pathogenic |
| NM_001165963.4(SCN1A):c.2385T>C (p.His795=) |
single nucleotide variant |
Early infantile epileptic encephalopathy with suppression bursts [RCV003084089] |
Chr2:166041261 [GRCh38]
Chr2:166897771 [GRCh37]
Chr2:2q24.3 |
likely benign |
| NM_001165963.4(SCN1A):c.153A>G (p.Pro51=) |
single nucleotide variant |
Early infantile epileptic encephalopathy with suppression bursts [RCV003022819] |
Chr2:166073469 [GRCh38]
Chr2:166929979 [GRCh37]
Chr2:2q24.3 |
likely benign |
| NM_001165963.4(SCN1A):c.2667T>G (p.Ala889=) |
single nucleotide variant |
Early infantile epileptic encephalopathy with suppression bursts [RCV003083308] |
Chr2:166038055 [GRCh38]
Chr2:166894565 [GRCh37]
Chr2:2q24.3 |
likely benign |
| NM_001165963.4(SCN1A):c.3705+18A>G |
single nucleotide variant |
Early infantile epileptic encephalopathy with suppression bursts [RCV002624965] |
Chr2:166013726 [GRCh38]
Chr2:166870236 [GRCh37]
Chr2:2q24.3 |
likely benign |
| NM_001165963.4(SCN1A):c.4002+2298T>C |
single nucleotide variant |
Early infantile epileptic encephalopathy with suppression bursts [RCV002572657] |
Chr2:166007421 [GRCh38]
Chr2:166863931 [GRCh37]
Chr2:2q24.3 |
likely benign |
| NM_001165963.4(SCN1A):c.1171-20T>C |
single nucleotide variant |
Early infantile epileptic encephalopathy with suppression bursts [RCV002643549] |
Chr2:166046996 [GRCh38]
Chr2:166903506 [GRCh37]
Chr2:2q24.3 |
likely benign |
| NM_001165963.4(SCN1A):c.3150A>G (p.Pro1050=) |
single nucleotide variant |
Early infantile epileptic encephalopathy with suppression bursts [RCV003082325] |
Chr2:166036327 [GRCh38]
Chr2:166892837 [GRCh37]
Chr2:2q24.3 |
likely benign |
| NM_001165963.4(SCN1A):c.3986G>T (p.Arg1329Leu) |
single nucleotide variant |
Early infantile epileptic encephalopathy with suppression bursts [RCV002594420] |
Chr2:166009735 [GRCh38]
Chr2:166866245 [GRCh37]
Chr2:2q24.3 |
pathogenic |
| NM_001165963.4(SCN1A):c.3008C>T (p.Thr1003Ile) |
single nucleotide variant |
Early infantile epileptic encephalopathy with suppression bursts [RCV002957313] |
Chr2:166036469 [GRCh38]
Chr2:166892979 [GRCh37]
Chr2:2q24.3 |
uncertain significance |
| NM_001165963.4(SCN1A):c.2974C>A (p.Leu992Met) |
single nucleotide variant |
Early infantile epileptic encephalopathy with suppression bursts [RCV002801118] |
Chr2:166036503 [GRCh38]
Chr2:166893013 [GRCh37]
Chr2:2q24.3 |
pathogenic |
| NM_001165963.4(SCN1A):c.3391G>C (p.Asp1131His) |
single nucleotide variant |
Early infantile epileptic encephalopathy with suppression bursts [RCV002890964] |
Chr2:166036086 [GRCh38]
Chr2:166892596 [GRCh37]
Chr2:2q24.3 |
uncertain significance |
| NM_001165963.4(SCN1A):c.773T>G (p.Leu258Arg) |
single nucleotide variant |
Early infantile epileptic encephalopathy with suppression bursts [RCV002828278] |
Chr2:166051910 [GRCh38]
Chr2:166908420 [GRCh37]
Chr2:2q24.3 |
uncertain significance |
| NM_001165963.4(SCN1A):c.3090A>G (p.Ile1030Met) |
single nucleotide variant |
Early infantile epileptic encephalopathy with suppression bursts [RCV002850939] |
Chr2:166036387 [GRCh38]
Chr2:166892897 [GRCh37]
Chr2:2q24.3 |
uncertain significance |
| NM_001165963.4(SCN1A):c.397C>A (p.Leu133Ile) |
single nucleotide variant |
Early infantile epileptic encephalopathy with suppression bursts [RCV003081888] |
Chr2:166056487 [GRCh38]
Chr2:166912997 [GRCh37]
Chr2:2q24.3 |
uncertain significance |
| NM_001165963.4(SCN1A):c.236A>G (p.Asp79Gly) |
single nucleotide variant |
Early infantile epileptic encephalopathy with suppression bursts [RCV002741074] |
Chr2:166073386 [GRCh38]
Chr2:166929896 [GRCh37]
Chr2:2q24.3 |
pathogenic |
| NM_001165963.4(SCN1A):c.1458C>T (p.Ala486=) |
single nucleotide variant |
Early infantile epileptic encephalopathy with suppression bursts [RCV003082143] |
Chr2:166045247 [GRCh38]
Chr2:166901757 [GRCh37]
Chr2:2q24.3 |
likely benign |
| NM_001165963.4(SCN1A):c.2368T>A (p.Tyr790Asn) |
single nucleotide variant |
Early infantile epileptic encephalopathy with suppression bursts [RCV002801394] |
Chr2:166041278 [GRCh38]
Chr2:166897788 [GRCh37]
Chr2:2q24.3 |
likely pathogenic |
| NM_001165963.4(SCN1A):c.5278T>C (p.Ser1760Pro) |
single nucleotide variant |
Early infantile epileptic encephalopathy with suppression bursts [RCV002850993]|not provided [RCV003326639] |
Chr2:165991997 [GRCh38]
Chr2:166848507 [GRCh37]
Chr2:2q24.3 |
uncertain significance |
| NM_001165963.4(SCN1A):c.2751del (p.Asp918fs) |
deletion |
Early infantile epileptic encephalopathy with suppression bursts [RCV002853303] |
Chr2:166037971 [GRCh38]
Chr2:166894481 [GRCh37]
Chr2:2q24.3 |
pathogenic |
| NM_001165963.4(SCN1A):c.2015T>C (p.Ile672Thr) |
single nucleotide variant |
Early infantile epileptic encephalopathy with suppression bursts [RCV002623681] |
Chr2:166043697 [GRCh38]
Chr2:166900207 [GRCh37]
Chr2:2q24.3 |
uncertain significance |
| NM_001165963.4(SCN1A):c.3430-6T>C |
single nucleotide variant |
Early infantile epileptic encephalopathy with suppression bursts [RCV003043110] |
Chr2:166015733 [GRCh38]
Chr2:166872243 [GRCh37]
Chr2:2q24.3 |
likely benign |
| NM_001165963.4(SCN1A):c.2561G>A (p.Gly854Glu) |
single nucleotide variant |
Early infantile epileptic encephalopathy with suppression bursts [RCV003059340] |
Chr2:166039451 [GRCh38]
Chr2:166895961 [GRCh37]
Chr2:2q24.3 |
pathogenic|uncertain significance |
| NM_001165963.4(SCN1A):c.2851G>A (p.Glu951Lys) |
single nucleotide variant |
Early infantile epileptic encephalopathy with suppression bursts [RCV003025870] |
Chr2:166037871 [GRCh38]
Chr2:166894381 [GRCh37]
Chr2:2q24.3 |
likely pathogenic |
| NM_001165963.4(SCN1A):c.3483A>C (p.Ala1161=) |
single nucleotide variant |
Early infantile epileptic encephalopathy with suppression bursts [RCV002700859] |
Chr2:166015674 [GRCh38]
Chr2:166872184 [GRCh37]
Chr2:2q24.3 |
likely benign |
| NM_001165963.4(SCN1A):c.754A>C (p.Ile252Leu) |
single nucleotide variant |
Early infantile epileptic encephalopathy with suppression bursts [RCV002894791] |
Chr2:166051929 [GRCh38]
Chr2:166908439 [GRCh37]
Chr2:2q24.3 |
likely pathogenic |
| NM_001165963.4(SCN1A):c.5881A>G (p.Ile1961Val) |
single nucleotide variant |
Early infantile epileptic encephalopathy with suppression bursts [RCV002954288]|not provided [RCV003236943] |
Chr2:165991394 [GRCh38]
Chr2:166847904 [GRCh37]
Chr2:2q24.3 |
uncertain significance |
| NM_001165963.4(SCN1A):c.4242C>A (p.Asn1414Lys) |
single nucleotide variant |
Early infantile epileptic encephalopathy with suppression bursts [RCV003041079] |
Chr2:166002514 [GRCh38]
Chr2:166859024 [GRCh37]
Chr2:2q24.3 |
likely pathogenic |
| NM_001165963.4(SCN1A):c.3986G>C (p.Arg1329Pro) |
single nucleotide variant |
Early infantile epileptic encephalopathy with suppression bursts [RCV003084859] |
Chr2:166009735 [GRCh38]
Chr2:166866245 [GRCh37]
Chr2:2q24.3 |
pathogenic |
| NM_001165963.4(SCN1A):c.1985C>T (p.Ser662Leu) |
single nucleotide variant |
Early infantile epileptic encephalopathy with suppression bursts [RCV002575123] |
Chr2:166043727 [GRCh38]
Chr2:166900237 [GRCh37]
Chr2:2q24.3 |
likely benign |
| NM_001165963.4(SCN1A):c.3510dup (p.Pro1171fs) |
duplication |
Early infantile epileptic encephalopathy with suppression bursts [RCV002828765] |
Chr2:166015646..166015647 [GRCh38]
Chr2:166872156..166872157 [GRCh37]
Chr2:2q24.3 |
pathogenic |
| NM_001165963.4(SCN1A):c.4624G>A (p.Val1542Ile) |
single nucleotide variant |
Early infantile epileptic encephalopathy with suppression bursts [RCV003057532] |
Chr2:165994374 [GRCh38]
Chr2:166850884 [GRCh37]
Chr2:2q24.3 |
uncertain significance |
| NM_001165963.4(SCN1A):c.289_290insT (p.Lys97fs) |
insertion |
Early infantile epileptic encephalopathy with suppression bursts [RCV002791113] |
Chr2:166058663..166058664 [GRCh38]
Chr2:166915173..166915174 [GRCh37]
Chr2:2q24.3 |
pathogenic |
| NM_001165963.4(SCN1A):c.2720T>G (p.Val907Gly) |
single nucleotide variant |
Severe myoclonic epilepsy in infancy [RCV002789969] |
Chr2:166038002 [GRCh38]
Chr2:166894512 [GRCh37]
Chr2:2q24.3 |
likely pathogenic |
| NM_001165963.4(SCN1A):c.4786C>A (p.Arg1596Ser) |
single nucleotide variant |
Early infantile epileptic encephalopathy with suppression bursts [RCV002801351] |
Chr2:165994212 [GRCh38]
Chr2:166850722 [GRCh37]
Chr2:2q24.3 |
likely pathogenic |
| NM_001165963.4(SCN1A):c.4002+2401A>G |
single nucleotide variant |
Early infantile epileptic encephalopathy with suppression bursts [RCV003022443] |
Chr2:166007318 [GRCh38]
Chr2:166863828 [GRCh37]
Chr2:2q24.3 |
likely benign |
| NM_001165963.4(SCN1A):c.4002+2119A>G |
single nucleotide variant |
Early infantile epileptic encephalopathy with suppression bursts [RCV003025189] |
Chr2:166007600 [GRCh38]
Chr2:166864110 [GRCh37]
Chr2:2q24.3 |
likely benign |
| NM_001165963.4(SCN1A):c.3429+2T>C |
single nucleotide variant |
Early infantile epileptic encephalopathy with suppression bursts [RCV002664264] |
Chr2:166036046 [GRCh38]
Chr2:166892556 [GRCh37]
Chr2:2q24.3 |
pathogenic |
| NM_001165963.4(SCN1A):c.2589+7A>G |
single nucleotide variant |
Early infantile epileptic encephalopathy with suppression bursts [RCV002664266] |
Chr2:166039416 [GRCh38]
Chr2:166895926 [GRCh37]
Chr2:2q24.3 |
uncertain significance |
| NM_001165963.4(SCN1A):c.931G>T (p.Glu311Ter) |
single nucleotide variant |
Early infantile epileptic encephalopathy with suppression bursts [RCV002664268] |
Chr2:166051752 [GRCh38]
Chr2:166908262 [GRCh37]
Chr2:2q24.3 |
pathogenic |
| NM_001165963.4(SCN1A):c.4426A>T (p.Asn1476Tyr) |
single nucleotide variant |
Early infantile epileptic encephalopathy with suppression bursts [RCV002711858] |
Chr2:165998088 [GRCh38]
Chr2:166854598 [GRCh37]
Chr2:2q24.3 |
likely pathogenic |
| NM_001165963.4(SCN1A):c.4513A>C (p.Lys1505Gln) |
single nucleotide variant |
Early infantile epileptic encephalopathy with suppression bursts [RCV002801911] |
Chr2:165996081 [GRCh38]
Chr2:166852591 [GRCh37]
Chr2:2q24.3 |
uncertain significance |
| NM_001165963.4(SCN1A):c.1192dup (p.Thr398fs) |
duplication |
Early infantile epileptic encephalopathy with suppression bursts [RCV002851699] |
Chr2:166046954..166046955 [GRCh38]
Chr2:166903464..166903465 [GRCh37]
Chr2:2q24.3 |
pathogenic |
| NM_001165963.4(SCN1A):c.5699A>G (p.Lys1900Arg) |
single nucleotide variant |
Early infantile epileptic encephalopathy with suppression bursts [RCV002575722] |
Chr2:165991576 [GRCh38]
Chr2:166848086 [GRCh37]
Chr2:2q24.3 |
uncertain significance |
| NM_001165963.4(SCN1A):c.517A>T (p.Ile173Phe) |
single nucleotide variant |
Early infantile epileptic encephalopathy with suppression bursts [RCV002958537] |
Chr2:166054723 [GRCh38]
Chr2:166911233 [GRCh37]
Chr2:2q24.3 |
pathogenic|uncertain significance |
| NM_001165963.4(SCN1A):c.5273_5277delinsT (p.Asn1758fs) |
indel |
Severe myoclonic epilepsy in infancy [RCV002790034] |
Chr2:165991998..165992002 [GRCh38]
Chr2:166848508..166848512 [GRCh37]
Chr2:2q24.3 |
uncertain significance |
| NM_001165963.4(SCN1A):c.4002+2499T>C |
single nucleotide variant |
Early infantile epileptic encephalopathy with suppression bursts [RCV003057047] |
Chr2:166007220 [GRCh38]
Chr2:166863730 [GRCh37]
Chr2:2q24.3 |
likely benign |
| NM_001165963.4(SCN1A):c.3201A>G (p.Ala1067=) |
single nucleotide variant |
Early infantile epileptic encephalopathy with suppression bursts [RCV003039810] |
Chr2:166036276 [GRCh38]
Chr2:166892786 [GRCh37]
Chr2:2q24.3 |
likely benign |
| NM_001165963.4(SCN1A):c.2395G>A (p.Val799Met) |
single nucleotide variant |
not provided [RCV002508430] |
Chr2:166041251 [GRCh38]
Chr2:166897761 [GRCh37]
Chr2:2q24.3 |
uncertain significance |
| NM_001165963.4(SCN1A):c.2374del (p.Pro791_Met792insTer) |
deletion |
Early infantile epileptic encephalopathy with suppression bursts [RCV002829311] |
Chr2:166041272 [GRCh38]
Chr2:166897782 [GRCh37]
Chr2:2q24.3 |
pathogenic |
| NM_001165963.4(SCN1A):c.4002+2155T>C |
single nucleotide variant |
Early infantile epileptic encephalopathy with suppression bursts [RCV002852336] |
Chr2:166007564 [GRCh38]
Chr2:166864074 [GRCh37]
Chr2:2q24.3 |
likely benign |
| NM_001165963.4(SCN1A):c.4002+2452G>A |
single nucleotide variant |
Early infantile epileptic encephalopathy with suppression bursts [RCV002876112] |
Chr2:166007267 [GRCh38]
Chr2:166863777 [GRCh37]
Chr2:2q24.3 |
uncertain significance |
| NM_001165963.4(SCN1A):c.4002+2304G>T |
single nucleotide variant |
Early infantile epileptic encephalopathy with suppression bursts [RCV002872301] |
Chr2:166007415 [GRCh38]
Chr2:166863925 [GRCh37]
Chr2:2q24.3 |
likely benign |
| NM_001165963.4(SCN1A):c.5645T>C (p.Met1882Thr) |
single nucleotide variant |
Early infantile epileptic encephalopathy with suppression bursts [RCV003057912] |
Chr2:165991630 [GRCh38]
Chr2:166848140 [GRCh37]
Chr2:2q24.3 |
uncertain significance |
| NM_001165963.4(SCN1A):c.5907T>C (p.Ile1969=) |
single nucleotide variant |
Early infantile epileptic encephalopathy with suppression bursts [RCV002791111] |
Chr2:165991368 [GRCh38]
Chr2:166847878 [GRCh37]
Chr2:2q24.3 |
likely benign |
| NM_001165963.4(SCN1A):c.5757_5770del (p.Val1920fs) |
deletion |
Early infantile epileptic encephalopathy with suppression bursts [RCV002893865] |
Chr2:165991505..165991518 [GRCh38]
Chr2:166848015..166848028 [GRCh37]
Chr2:2q24.3 |
pathogenic |
| NM_001165963.4(SCN1A):c.2418T>A (p.Val806=) |
single nucleotide variant |
Early infantile epileptic encephalopathy with suppression bursts [RCV003058836] |
Chr2:166039594 [GRCh38]
Chr2:166896104 [GRCh37]
Chr2:2q24.3 |
likely benign |
| NM_001165963.4(SCN1A):c.4002+1960A>G |
single nucleotide variant |
Early infantile epileptic encephalopathy with suppression bursts [RCV003059460] |
Chr2:166007759 [GRCh38]
Chr2:166864269 [GRCh37]
Chr2:2q24.3 |
likely benign |
| NM_001165963.4(SCN1A):c.1485G>A (p.Lys495=) |
single nucleotide variant |
Early infantile epileptic encephalopathy with suppression bursts [RCV003042822] |
Chr2:166045220 [GRCh38]
Chr2:166901730 [GRCh37]
Chr2:2q24.3 |
likely benign |
| NM_001165963.4(SCN1A):c.2807A>C (p.Asp936Ala) |
single nucleotide variant |
Early infantile epileptic encephalopathy with suppression bursts [RCV003058046] |
Chr2:166037915 [GRCh38]
Chr2:166894425 [GRCh37]
Chr2:2q24.3 |
pathogenic |
| NM_001165963.4(SCN1A):c.3621G>T (p.Leu1207=) |
single nucleotide variant |
Early infantile epileptic encephalopathy with suppression bursts [RCV002644336] |
Chr2:166013828 [GRCh38]
Chr2:166870338 [GRCh37]
Chr2:2q24.3 |
likely benign |
| NM_001165963.4(SCN1A):c.1030C>T (p.Gln344Ter) |
single nucleotide variant |
Early infantile epileptic encephalopathy with suppression bursts [RCV002894317] |
Chr2:166047767 [GRCh38]
Chr2:166904277 [GRCh37]
Chr2:2q24.3 |
pathogenic |
| NM_001165963.4(SCN1A):c.5064G>A (p.Gly1688=) |
single nucleotide variant |
Early infantile epileptic encephalopathy with suppression bursts [RCV002790403] |
Chr2:165992211 [GRCh38]
Chr2:166848721 [GRCh37]
Chr2:2q24.3 |
likely benign |
| NM_001165963.4(SCN1A):c.2570T>C (p.Val857Ala) |
single nucleotide variant |
Early infantile epileptic encephalopathy with suppression bursts [RCV003041534] |
Chr2:166039442 [GRCh38]
Chr2:166895952 [GRCh37]
Chr2:2q24.3 |
uncertain significance |
| NM_001165963.4(SCN1A):c.1895del (p.Leu632fs) |
deletion |
Early infantile epileptic encephalopathy with suppression bursts [RCV002852067] |
Chr2:166043817 [GRCh38]
Chr2:166900327 [GRCh37]
Chr2:2q24.3 |
pathogenic |
| NM_001165963.4(SCN1A):c.4002+1997C>T |
single nucleotide variant |
Early infantile epileptic encephalopathy with suppression bursts [RCV002741097] |
Chr2:166007722 [GRCh38]
Chr2:166864232 [GRCh37]
Chr2:2q24.3 |
likely benign |
| NM_001165963.4(SCN1A):c.4664T>G (p.Met1555Arg) |
single nucleotide variant |
Early infantile epileptic encephalopathy with suppression bursts [RCV002664262] |
Chr2:165994334 [GRCh38]
Chr2:166850844 [GRCh37]
Chr2:2q24.3 |
likely pathogenic |
| NM_001165963.4(SCN1A):c.573C>G (p.Asn191Lys) |
single nucleotide variant |
Early infantile epileptic encephalopathy with suppression bursts [RCV002664269] |
Chr2:166054667 [GRCh38]
Chr2:166911177 [GRCh37]
Chr2:2q24.3 |
pathogenic |
| NM_001165963.4(SCN1A):c.2374A>G (p.Met792Val) |
single nucleotide variant |
Early infantile epileptic encephalopathy with suppression bursts [RCV002851655] |
Chr2:166041272 [GRCh38]
Chr2:166897782 [GRCh37]
Chr2:2q24.3 |
uncertain significance |
| NM_001165963.4(SCN1A):c.4284+18del |
deletion |
Early infantile epileptic encephalopathy with suppression bursts [RCV002701198] |
Chr2:166002454 [GRCh38]
Chr2:166858964 [GRCh37]
Chr2:2q24.3 |
benign |
| NM_001165963.4(SCN1A):c.970C>A (p.His324Asn) |
single nucleotide variant |
Early infantile epileptic encephalopathy with suppression bursts [RCV002651553] |
Chr2:166048944 [GRCh38]
Chr2:166905454 [GRCh37]
Chr2:2q24.3 |
pathogenic|uncertain significance |
| NM_001165963.4(SCN1A):c.4002+2213_4002+2215del |
deletion |
Early infantile epileptic encephalopathy with suppression bursts [RCV002675923] |
Chr2:166007504..166007506 [GRCh38]
Chr2:166864014..166864016 [GRCh37]
Chr2:2q24.3 |
likely benign |
| NM_001165963.4(SCN1A):c.5276C>T (p.Pro1759Leu) |
single nucleotide variant |
Early infantile epileptic encephalopathy with suppression bursts [RCV002942053] |
Chr2:165991999 [GRCh38]
Chr2:166848509 [GRCh37]
Chr2:2q24.3 |
uncertain significance |
| NM_001165963.4(SCN1A):c.964+2_964+3insAAGATTCAAGTGGCCGGGCGCGGTGGCTCACGCCTGTAATCCCNNNNNAAAAAAAAAAAAAAAAAAAA |
insertion |
Early infantile epileptic encephalopathy with suppression bursts [RCV003031895] |
Chr2:166051716..166051717 [GRCh38]
Chr2:166908226..166908227 [GRCh37]
Chr2:2q24.3 |
pathogenic |
| NM_001165963.4(SCN1A):c.473+17T>C |
single nucleotide variant |
Early infantile epileptic encephalopathy with suppression bursts [RCV003028213] |
Chr2:166056394 [GRCh38]
Chr2:166912904 [GRCh37]
Chr2:2q24.3 |
likely benign |
| NM_001165963.4(SCN1A):c.2812T>A (p.Phe938Ile) |
single nucleotide variant |
Early infantile epileptic encephalopathy with suppression bursts [RCV002811748] |
Chr2:166037910 [GRCh38]
Chr2:166894420 [GRCh37]
Chr2:2q24.3 |
uncertain significance |
| NM_001165963.4(SCN1A):c.4002+2589G>A |
single nucleotide variant |
Early infantile epileptic encephalopathy with suppression bursts [RCV003048604] |
Chr2:166007130 [GRCh38]
Chr2:166863640 [GRCh37]
Chr2:2q24.3 |
likely benign |
| NM_001165963.4(SCN1A):c.3762T>C (p.Tyr1254=) |
single nucleotide variant |
Early infantile epileptic encephalopathy with suppression bursts [RCV002834753] |
Chr2:166012226 [GRCh38]
Chr2:166868736 [GRCh37]
Chr2:2q24.3 |
likely benign |
| NM_001165963.4(SCN1A):c.3883T>C (p.Ser1295Pro) |
single nucleotide variant |
Early infantile epileptic encephalopathy with suppression bursts [RCV003031242] |
Chr2:166009838 [GRCh38]
Chr2:166866348 [GRCh37]
Chr2:2q24.3 |
uncertain significance |
| NM_001165963.4(SCN1A):c.1865T>G (p.Leu622Arg) |
single nucleotide variant |
Early infantile epileptic encephalopathy with suppression bursts [RCV003031844] |
Chr2:166043847 [GRCh38]
Chr2:166900357 [GRCh37]
Chr2:2q24.3 |
uncertain significance |
| NM_001165963.4(SCN1A):c.947_952dup (p.Tyr317_Ile318insThrTyr) |
duplication |
Early infantile epileptic encephalopathy with suppression bursts [RCV003028450] |
Chr2:166051730..166051731 [GRCh38]
Chr2:166908240..166908241 [GRCh37]
Chr2:2q24.3 |
uncertain significance |
| NM_001165963.4(SCN1A):c.114A>G (p.Lys38=) |
single nucleotide variant |
Early infantile epileptic encephalopathy with suppression bursts [RCV002581602] |
Chr2:166073508 [GRCh38]
Chr2:166930018 [GRCh37]
Chr2:2q24.3 |
likely benign |
| NM_001165963.4(SCN1A):c.3429+5G>T |
single nucleotide variant |
Early infantile epileptic encephalopathy with suppression bursts [RCV003031282] |
Chr2:166036043 [GRCh38]
Chr2:166892553 [GRCh37]
Chr2:2q24.3 |
uncertain significance |
| NM_001165963.4(SCN1A):c.4169T>C (p.Val1390Ala) |
single nucleotide variant |
Early infantile epileptic encephalopathy with suppression bursts [RCV003029337] |
Chr2:166002587 [GRCh38]
Chr2:166859097 [GRCh37]
Chr2:2q24.3 |
likely pathogenic |
| NM_001165963.4(SCN1A):c.4261G>T (p.Gly1421Trp) |
single nucleotide variant |
Early infantile epileptic encephalopathy with suppression bursts [RCV002651539] |
Chr2:166002495 [GRCh38]
Chr2:166859005 [GRCh37]
Chr2:2q24.3 |
likely pathogenic |
| NM_001165963.4(SCN1A):c.4072T>C (p.Trp1358Arg) |
single nucleotide variant |
Early infantile epileptic encephalopathy with suppression bursts [RCV002651541] |
Chr2:166002684 [GRCh38]
Chr2:166859194 [GRCh37]
Chr2:2q24.3 |
pathogenic |
| NM_001165963.4(SCN1A):c.3982T>C (p.Ser1328Pro) |
single nucleotide variant |
Early infantile epileptic encephalopathy with suppression bursts [RCV002651542] |
Chr2:166009739 [GRCh38]
Chr2:166866249 [GRCh37]
Chr2:2q24.3 |
pathogenic |
| NM_001165963.4(SCN1A):c.3661G>A (p.Glu1221Lys) |
single nucleotide variant |
Early infantile epileptic encephalopathy with suppression bursts [RCV002651546] |
Chr2:166013788 [GRCh38]
Chr2:166870298 [GRCh37]
Chr2:2q24.3 |
likely pathogenic |
| NM_001165963.4(SCN1A):c.602+5G>A |
single nucleotide variant |
Early infantile epileptic encephalopathy with suppression bursts [RCV002651557] |
Chr2:166054633 [GRCh38]
Chr2:166911143 [GRCh37]
Chr2:2q24.3 |
uncertain significance |
| NM_001165963.4(SCN1A):c.265-1G>C |
single nucleotide variant |
Early infantile epileptic encephalopathy with suppression bursts [RCV002651559] |
Chr2:166058689 [GRCh38]
Chr2:166915199 [GRCh37]
Chr2:2q24.3 |
pathogenic |
| NM_001165963.4(SCN1A):c.2660T>A (p.Val887Glu) |
single nucleotide variant |
Early infantile epileptic encephalopathy with suppression bursts [RCV003029681] |
Chr2:166038062 [GRCh38]
Chr2:166894572 [GRCh37]
Chr2:2q24.3 |
pathogenic|uncertain significance |
| NM_001165963.4(SCN1A):c.4888G>C (p.Val1630Leu) |
single nucleotide variant |
Early infantile epileptic encephalopathy with suppression bursts [RCV002651534] |
Chr2:165992387 [GRCh38]
Chr2:166848897 [GRCh37]
Chr2:2q24.3 |
pathogenic |
| NM_001165963.4(SCN1A):c.4852+2T>C |
single nucleotide variant |
Early infantile epileptic encephalopathy with suppression bursts [RCV002651535] |
Chr2:165994144 [GRCh38]
Chr2:166850654 [GRCh37]
Chr2:2q24.3 |
pathogenic |
| NM_001165963.4(SCN1A):c.4181C>T (p.Thr1394Ile) |
single nucleotide variant |
Early infantile epileptic encephalopathy with suppression bursts [RCV002651540] |
Chr2:166002575 [GRCh38]
Chr2:166859085 [GRCh37]
Chr2:2q24.3 |
pathogenic |
| NM_001165963.4(SCN1A):c.829T>C (p.Cys277Arg) |
single nucleotide variant |
Early infantile epileptic encephalopathy with suppression bursts [RCV002651554] |
Chr2:166051854 [GRCh38]
Chr2:166908364 [GRCh37]
Chr2:2q24.3 |
pathogenic |
| NM_001165963.4(SCN1A):c.495T>A (p.Tyr165Ter) |
single nucleotide variant |
Early infantile epileptic encephalopathy with suppression bursts [RCV002651558] |
Chr2:166054745 [GRCh38]
Chr2:166911255 [GRCh37]
Chr2:2q24.3 |
pathogenic |
| NM_001165963.4(SCN1A):c.4449A>G (p.Ile1483Met) |
single nucleotide variant |
Early infantile epileptic encephalopathy with suppression bursts [RCV002651538] |
Chr2:165998065 [GRCh38]
Chr2:166854575 [GRCh37]
Chr2:2q24.3 |
uncertain significance |
| NM_001165963.4(SCN1A):c.4002+2144C>T |
single nucleotide variant |
Early infantile epileptic encephalopathy with suppression bursts [RCV002922441] |
Chr2:166007575 [GRCh38]
Chr2:166864085 [GRCh37]
Chr2:2q24.3 |
likely benign |
| NM_001165963.4(SCN1A):c.5636G>A (p.Ser1879Asn) |
single nucleotide variant |
Early infantile epileptic encephalopathy with suppression bursts [RCV002716166] |
Chr2:165991639 [GRCh38]
Chr2:166848149 [GRCh37]
Chr2:2q24.3 |
uncertain significance |
| NM_001165963.4(SCN1A):c.1561C>T (p.Gln521Ter) |
single nucleotide variant |
Early infantile epileptic encephalopathy with suppression bursts [RCV003028459] |
Chr2:166045144 [GRCh38]
Chr2:166901654 [GRCh37]
Chr2:2q24.3 |
pathogenic |
| NM_001165963.4(SCN1A):c.4673T>A (p.Met1558Lys) |
single nucleotide variant |
Early infantile epileptic encephalopathy with suppression bursts [RCV003046887] |
Chr2:165994325 [GRCh38]
Chr2:166850835 [GRCh37]
Chr2:2q24.3 |
uncertain significance |
| NM_001165963.4(SCN1A):c.3867del (p.Phe1289_Leu1290insTer) |
deletion |
Early infantile epileptic encephalopathy with suppression bursts [RCV002877269] |
Chr2:166012121 [GRCh38]
Chr2:166868631 [GRCh37]
Chr2:2q24.3 |
pathogenic |
| NM_001165963.4(SCN1A):c.982G>T (p.Glu328Ter) |
single nucleotide variant |
Early infantile epileptic encephalopathy with suppression bursts [RCV002833817] |
Chr2:166048932 [GRCh38]
Chr2:166905442 [GRCh37]
Chr2:2q24.3 |
pathogenic |
| NM_001165963.4(SCN1A):c.2732T>C (p.Leu911Pro) |
single nucleotide variant |
Early infantile epileptic encephalopathy with suppression bursts [RCV002833823] |
Chr2:166037990 [GRCh38]
Chr2:166894500 [GRCh37]
Chr2:2q24.3 |
uncertain significance |
| NM_001165963.4(SCN1A):c.384-16C>T |
single nucleotide variant |
Early infantile epileptic encephalopathy with suppression bursts [RCV002629715] |
Chr2:166056516 [GRCh38]
Chr2:166913026 [GRCh37]
Chr2:2q24.3 |
likely benign |
| NM_001165963.4(SCN1A):c.3058C>G (p.His1020Asp) |
single nucleotide variant |
Early infantile epileptic encephalopathy with suppression bursts [RCV002770127] |
Chr2:166036419 [GRCh38]
Chr2:166892929 [GRCh37]
Chr2:2q24.3 |
uncertain significance |
| NM_001165963.4(SCN1A):c.4854_4855insTA (p.Met1619Ter) |
insertion |
Early infantile epileptic encephalopathy with suppression bursts [RCV002834935] |
Chr2:165992420..165992421 [GRCh38]
Chr2:166848930..166848931 [GRCh37]
Chr2:2q24.3 |
pathogenic |
| NM_001165963.4(SCN1A):c.3504A>G (p.Val1168=) |
single nucleotide variant |
Early infantile epileptic encephalopathy with suppression bursts [RCV002810324] |
Chr2:166015653 [GRCh38]
Chr2:166872163 [GRCh37]
Chr2:2q24.3 |
likely benign |
| NM_001165963.4(SCN1A):c.3253G>A (p.Gly1085Ser) |
single nucleotide variant |
Early infantile epileptic encephalopathy with suppression bursts [RCV003046287] |
Chr2:166036224 [GRCh38]
Chr2:166892734 [GRCh37]
Chr2:2q24.3 |
uncertain significance |
| NM_001165963.4(SCN1A):c.5992G>A (p.Glu1998Lys) |
single nucleotide variant |
Early infantile epileptic encephalopathy with suppression bursts [RCV002922565] |
Chr2:165991283 [GRCh38]
Chr2:166847793 [GRCh37]
Chr2:2q24.3 |
uncertain significance |
| NM_001165963.4(SCN1A):c.3973A>T (p.Arg1325Ter) |
single nucleotide variant |
Early infantile epileptic encephalopathy with suppression bursts [RCV002899491] |
Chr2:166009748 [GRCh38]
Chr2:166866258 [GRCh37]
Chr2:2q24.3 |
pathogenic |
| NM_001165963.4(SCN1A):c.5182G>C (p.Gly1728Arg) |
single nucleotide variant |
Early infantile epileptic encephalopathy with suppression bursts [RCV003027214] |
Chr2:165992093 [GRCh38]
Chr2:166848603 [GRCh37]
Chr2:2q24.3 |
pathogenic |
| NM_001165963.4(SCN1A):c.3430-13A>C |
single nucleotide variant |
Early infantile epileptic encephalopathy with suppression bursts [RCV003088769] |
Chr2:166015740 [GRCh38]
Chr2:166872250 [GRCh37]
Chr2:2q24.3 |
likely benign |
| NM_001165963.4(SCN1A):c.2947-4del |
deletion |
Early infantile epileptic encephalopathy with suppression bursts [RCV002899369] |
Chr2:166036534 [GRCh38]
Chr2:166893044 [GRCh37]
Chr2:2q24.3 |
benign |
| NM_001165963.4(SCN1A):c.727T>C (p.Ser243Pro) |
single nucleotide variant |
Early infantile epileptic encephalopathy with suppression bursts [RCV002857454] |
Chr2:166051956 [GRCh38]
Chr2:166908466 [GRCh37]
Chr2:2q24.3 |
likely pathogenic |
| NM_001165963.4(SCN1A):c.1550A>G (p.Glu517Gly) |
single nucleotide variant |
Early infantile epileptic encephalopathy with suppression bursts [RCV002627858] |
Chr2:166045155 [GRCh38]
Chr2:166901665 [GRCh37]
Chr2:2q24.3 |
likely benign |
| NM_001165963.4(SCN1A):c.3926T>C (p.Leu1309Pro) |
single nucleotide variant |
Early infantile epileptic encephalopathy with suppression bursts [RCV002833103] |
Chr2:166009795 [GRCh38]
Chr2:166866305 [GRCh37]
Chr2:2q24.3 |
likely pathogenic |
| NM_001165963.4(SCN1A):c.4002+2184T>C |
single nucleotide variant |
Early infantile epileptic encephalopathy with suppression bursts [RCV002811000] |
Chr2:166007535 [GRCh38]
Chr2:166864045 [GRCh37]
Chr2:2q24.3 |
likely benign |
| NM_001165963.4(SCN1A):c.1431C>G (p.Gly477=) |
single nucleotide variant |
Early infantile epileptic encephalopathy with suppression bursts [RCV002806783] |
Chr2:166045274 [GRCh38]
Chr2:166901784 [GRCh37]
Chr2:2q24.3 |
likely benign |
| NM_001165963.4(SCN1A):c.1369del (p.Ala457fs) |
deletion |
Early infantile epileptic encephalopathy with suppression bursts [RCV002922764] |
Chr2:166046778 [GRCh38]
Chr2:166903288 [GRCh37]
Chr2:2q24.3 |
pathogenic |
| NM_001165963.4(SCN1A):c.4002+1983T>C |
single nucleotide variant |
Early infantile epileptic encephalopathy with suppression bursts [RCV002835383] |
Chr2:166007736 [GRCh38]
Chr2:166864246 [GRCh37]
Chr2:2q24.3 |
likely benign |
| NM_001165963.4(SCN1A):c.4158C>T (p.Asp1386=) |
single nucleotide variant |
Early infantile epileptic encephalopathy with suppression bursts [RCV003047834] |
Chr2:166002598 [GRCh38]
Chr2:166859108 [GRCh37]
Chr2:2q24.3 |
likely benign |
| NM_001165963.4(SCN1A):c.4002+2253G>A |
single nucleotide variant |
Early infantile epileptic encephalopathy with suppression bursts [RCV002580098] |
Chr2:166007466 [GRCh38]
Chr2:166863976 [GRCh37]
Chr2:2q24.3 |
likely benign |
| NM_001165963.4(SCN1A):c.3763G>A (p.Ala1255Thr) |
single nucleotide variant |
Early infantile epileptic encephalopathy with suppression bursts [RCV002715195] |
Chr2:166012225 [GRCh38]
Chr2:166868735 [GRCh37]
Chr2:2q24.3 |
uncertain significance |
| NM_001165963.4(SCN1A):c.384-3T>G |
single nucleotide variant |
Early infantile epileptic encephalopathy with suppression bursts [RCV003027754] |
Chr2:166056503 [GRCh38]
Chr2:166913013 [GRCh37]
Chr2:2q24.3 |
uncertain significance |
| NM_001165963.4(SCN1A):c.2744G>A (p.Ser915Asn) |
single nucleotide variant |
Early infantile epileptic encephalopathy with suppression bursts [RCV002933517]|not provided [RCV003159238] |
Chr2:166037978 [GRCh38]
Chr2:166894488 [GRCh37]
Chr2:2q24.3 |
uncertain significance |
| NM_001165963.4(SCN1A):c.546T>C (p.Asp182=) |
single nucleotide variant |
Early infantile epileptic encephalopathy with suppression bursts [RCV002810898] |
Chr2:166054694 [GRCh38]
Chr2:166911204 [GRCh37]
Chr2:2q24.3 |
likely benign |
| NM_001165963.4(SCN1A):c.4002+2600A>G |
single nucleotide variant |
Early infantile epileptic encephalopathy with suppression bursts [RCV003043776] |
Chr2:166007119 [GRCh38]
Chr2:166863629 [GRCh37]
Chr2:2q24.3 |
likely benign |
| NM_001165963.4(SCN1A):c.4002+2519A>G |
single nucleotide variant |
Early infantile epileptic encephalopathy with suppression bursts [RCV002715801] |
Chr2:166007200 [GRCh38]
Chr2:166863710 [GRCh37]
Chr2:2q24.3 |
likely benign |
| NM_001165963.4(SCN1A):c.4002+2128G>T |
single nucleotide variant |
Early infantile epileptic encephalopathy with suppression bursts [RCV002600895] |
Chr2:166007591 [GRCh38]
Chr2:166864101 [GRCh37]
Chr2:2q24.3 |
likely benign |
| NM_001165963.4(SCN1A):c.3822T>C (p.Tyr1274=) |
single nucleotide variant |
Early infantile epileptic encephalopathy with suppression bursts [RCV003031530] |
Chr2:166012166 [GRCh38]
Chr2:166868676 [GRCh37]
Chr2:2q24.3 |
likely benign |
| NM_001165963.4(SCN1A):c.265-20G>T |
single nucleotide variant |
Early infantile epileptic encephalopathy with suppression bursts [RCV003031534] |
Chr2:166058708 [GRCh38]
Chr2:166915218 [GRCh37]
Chr2:2q24.3 |
likely benign |
| NM_001165963.4(SCN1A):c.3966A>C (p.Arg1322Ser) |
single nucleotide variant |
Early infantile epileptic encephalopathy with suppression bursts [RCV002877478] |
Chr2:166009755 [GRCh38]
Chr2:166866265 [GRCh37]
Chr2:2q24.3 |
likely pathogenic |
| NM_001165963.4(SCN1A):c.2422A>C (p.Thr808Pro) |
single nucleotide variant |
Early infantile epileptic encephalopathy with suppression bursts [RCV002937147] |
Chr2:166039590 [GRCh38]
Chr2:166896100 [GRCh37]
Chr2:2q24.3 |
uncertain significance |
| NM_001165963.4(SCN1A):c.2618G>C (p.Trp873Ser) |
single nucleotide variant |
Early infantile epileptic encephalopathy with suppression bursts [RCV002899123] |
Chr2:166038104 [GRCh38]
Chr2:166894614 [GRCh37]
Chr2:2q24.3 |
likely pathogenic |
| NM_001165963.4(SCN1A):c.232G>A (p.Glu78Lys) |
single nucleotide variant |
Early infantile epileptic encephalopathy with suppression bursts [RCV003062062] |
Chr2:166073390 [GRCh38]
Chr2:166929900 [GRCh37]
Chr2:2q24.3 |
likely pathogenic |
| NM_001165963.4(SCN1A):c.3979T>G (p.Leu1327Val) |
single nucleotide variant |
Early infantile epileptic encephalopathy with suppression bursts [RCV002791838] |
Chr2:166009742 [GRCh38]
Chr2:166866252 [GRCh37]
Chr2:2q24.3 |
uncertain significance |
| NM_001165963.4(SCN1A):c.471_473+6del |
deletion |
Early infantile epileptic encephalopathy with suppression bursts [RCV003010182] |
Chr2:166056405..166056413 [GRCh38]
Chr2:166912915..166912923 [GRCh37]
Chr2:2q24.3 |
likely pathogenic |
| NM_001165963.4(SCN1A):c.749T>C (p.Val250Ala) |
single nucleotide variant |
Early infantile epileptic encephalopathy with suppression bursts [RCV002578733] |
Chr2:166051934 [GRCh38]
Chr2:166908444 [GRCh37]
Chr2:2q24.3 |
uncertain significance |
| NM_001165963.4(SCN1A):c.1867A>C (p.Ser623Arg) |
single nucleotide variant |
Early infantile epileptic encephalopathy with suppression bursts [RCV002628141]|not provided [RCV003328715] |
Chr2:166043845 [GRCh38]
Chr2:166900355 [GRCh37]
Chr2:2q24.3 |
likely pathogenic|uncertain significance |
| NM_001165963.4(SCN1A):c.2043+7A>C |
single nucleotide variant |
Early infantile epileptic encephalopathy with suppression bursts [RCV003063927] |
Chr2:166043662 [GRCh38]
Chr2:166900172 [GRCh37]
Chr2:2q24.3 |
likely benign |
| NM_001165963.4(SCN1A):c.964+10_964+12del |
microsatellite |
Early infantile epileptic encephalopathy with suppression bursts [RCV003048291] |
Chr2:166051707..166051709 [GRCh38]
Chr2:166908217..166908219 [GRCh37]
Chr2:2q24.3 |
likely benign |
| NM_001165963.4(SCN1A):c.969T>G (p.Tyr323Ter) |
single nucleotide variant |
Early infantile epileptic encephalopathy with suppression bursts [RCV002877181] |
Chr2:166048945 [GRCh38]
Chr2:166905455 [GRCh37]
Chr2:2q24.3 |
pathogenic |
| NM_001165963.4(SCN1A):c.4002+2242T>C |
single nucleotide variant |
Early infantile epileptic encephalopathy with suppression bursts [RCV002834226] |
Chr2:166007477 [GRCh38]
Chr2:166863987 [GRCh37]
Chr2:2q24.3 |
likely benign |
| NM_001165963.4(SCN1A):c.2607G>A (p.Leu869=) |
single nucleotide variant |
Early infantile epileptic encephalopathy with suppression bursts [RCV002922145] |
Chr2:166038115 [GRCh38]
Chr2:166894625 [GRCh37]
Chr2:2q24.3 |
likely benign |
| NM_001165963.4(SCN1A):c.4002+2563G>A |
single nucleotide variant |
Early infantile epileptic encephalopathy with suppression bursts [RCV002856757] |
Chr2:166007156 [GRCh38]
Chr2:166863666 [GRCh37]
Chr2:2q24.3 |
likely benign |
| NM_001165963.4(SCN1A):c.2701_2706dup (p.Phe902_Ile903insValPhe) |
duplication |
Early infantile epileptic encephalopathy with suppression bursts [RCV003008930] |
Chr2:166038015..166038016 [GRCh38]
Chr2:166894525..166894526 [GRCh37]
Chr2:2q24.3 |
uncertain significance |
| NM_001165963.4(SCN1A):c.4362A>T (p.Glu1454Asp) |
single nucleotide variant |
Early infantile epileptic encephalopathy with suppression bursts [RCV002899435] |
Chr2:165998152 [GRCh38]
Chr2:166854662 [GRCh37]
Chr2:2q24.3 |
uncertain significance |
| NM_001165963.4(SCN1A):c.4002+2532G>A |
single nucleotide variant |
Early infantile epileptic encephalopathy with suppression bursts [RCV003049208] |
Chr2:166007187 [GRCh38]
Chr2:166863697 [GRCh37]
Chr2:2q24.3 |
likely benign |
| NM_001165963.4(SCN1A):c.2311G>A (p.Asp771Asn) |
single nucleotide variant |
Early infantile epileptic encephalopathy with suppression bursts [RCV003028057] |
Chr2:166041335 [GRCh38]
Chr2:166897845 [GRCh37]
Chr2:2q24.3 |
uncertain significance |
| NM_001165963.4(SCN1A):c.4002+2451G>A |
single nucleotide variant |
Early infantile epileptic encephalopathy with suppression bursts [RCV003029765] |
Chr2:166007268 [GRCh38]
Chr2:166863778 [GRCh37]
Chr2:2q24.3 |
uncertain significance |
| NM_001165963.4(SCN1A):c.424T>C (p.Cys142Arg) |
single nucleotide variant |
Early infantile epileptic encephalopathy with suppression bursts [RCV003030567] |
Chr2:166056460 [GRCh38]
Chr2:166912970 [GRCh37]
Chr2:2q24.3 |
uncertain significance |
| NM_001165963.4(SCN1A):c.2044-2del |
deletion |
Early infantile epileptic encephalopathy with suppression bursts [RCV003008398] |
Chr2:166042426 [GRCh38]
Chr2:166898936 [GRCh37]
Chr2:2q24.3 |
pathogenic |
| NM_001165963.4(SCN1A):c.3197C>A (p.Thr1066Lys) |
single nucleotide variant |
Early infantile epileptic encephalopathy with suppression bursts [RCV002630528] |
Chr2:166036280 [GRCh38]
Chr2:166892790 [GRCh37]
Chr2:2q24.3 |
uncertain significance |
| NM_001165963.4(SCN1A):c.5170G>A (p.Ala1724Thr) |
single nucleotide variant |
Early infantile epileptic encephalopathy with suppression bursts [RCV002651531] |
Chr2:165992105 [GRCh38]
Chr2:166848615 [GRCh37]
Chr2:2q24.3 |
pathogenic |
| NM_001165963.4(SCN1A):c.3879+1G>A |
single nucleotide variant |
Early infantile epileptic encephalopathy with suppression bursts [RCV002651543] |
Chr2:166012108 [GRCh38]
Chr2:166868618 [GRCh37]
Chr2:2q24.3 |
pathogenic |
| NM_001165963.4(SCN1A):c.3705+1G>C |
single nucleotide variant |
Early infantile epileptic encephalopathy with suppression bursts [RCV002651545] |
Chr2:166013743 [GRCh38]
Chr2:166870253 [GRCh37]
Chr2:2q24.3 |
pathogenic |
| NM_001165963.4(SCN1A):c.1095T>C (p.Phe365=) |
single nucleotide variant |
Early infantile epileptic encephalopathy with suppression bursts [RCV002806494] |
Chr2:166047702 [GRCh38]
Chr2:166904212 [GRCh37]
Chr2:2q24.3 |
uncertain significance |
| NM_001165963.4(SCN1A):c.3430-1G>A |
single nucleotide variant |
Early infantile epileptic encephalopathy with suppression bursts [RCV002651547] |
Chr2:166015728 [GRCh38]
Chr2:166872238 [GRCh37]
Chr2:2q24.3 |
pathogenic |
| NM_001165963.4(SCN1A):c.3429+5G>A |
single nucleotide variant |
Early infantile epileptic encephalopathy with suppression bursts [RCV002651548] |
Chr2:166036043 [GRCh38]
Chr2:166892553 [GRCh37]
Chr2:2q24.3 |
pathogenic |
| NM_001165963.4(SCN1A):c.2942T>C (p.Leu981Pro) |
single nucleotide variant |
Early infantile epileptic encephalopathy with suppression bursts [RCV002651549] |
Chr2:166037780 [GRCh38]
Chr2:166894290 [GRCh37]
Chr2:2q24.3 |
pathogenic |
| NM_001165963.4(SCN1A):c.693A>T (p.Pro231=) |
single nucleotide variant |
Early infantile epileptic encephalopathy with suppression bursts [RCV002651555] |
Chr2:166052853 [GRCh38]
Chr2:166909363 [GRCh37]
Chr2:2q24.3 |
pathogenic |
| NM_001165963.4(SCN1A):c.7C>T (p.Gln3Ter) |
single nucleotide variant |
Early infantile epileptic encephalopathy with suppression bursts [RCV002651560] |
Chr2:166073615 [GRCh38]
Chr2:166930125 [GRCh37]
Chr2:2q24.3 |
pathogenic |
| NM_001165963.4(SCN1A):c.4005G>A (p.Val1335=) |
single nucleotide variant |
Early infantile epileptic encephalopathy with suppression bursts [RCV002895778] |
Chr2:166002751 [GRCh38]
Chr2:166859261 [GRCh37]
Chr2:2q24.3 |
likely benign |
| NM_001165963.4(SCN1A):c.1554T>G (p.Asp518Glu) |
single nucleotide variant |
Early infantile epileptic encephalopathy with suppression bursts [RCV003009164] |
Chr2:166045151 [GRCh38]
Chr2:166901661 [GRCh37]
Chr2:2q24.3 |
benign |
| NM_001165963.4(SCN1A):c.264+13dup |
duplication |
Early infantile epileptic encephalopathy with suppression bursts [RCV003066478] |
Chr2:166073344..166073345 [GRCh38]
Chr2:166929854..166929855 [GRCh37]
Chr2:2q24.3 |
benign |
| NM_001165963.4(SCN1A):c.1719C>A (p.Ser573Arg) |
single nucleotide variant |
Early infantile epileptic encephalopathy with suppression bursts [RCV002604993] |
Chr2:166043993 [GRCh38]
Chr2:166900503 [GRCh37]
Chr2:2q24.3 |
uncertain significance |
| NM_001165963.4(SCN1A):c.603-2A>C |
single nucleotide variant |
Early infantile epileptic encephalopathy with suppression bursts [RCV003066335] |
Chr2:166052945 [GRCh38]
Chr2:166909455 [GRCh37]
Chr2:2q24.3 |
pathogenic |
| NM_001165963.4(SCN1A):c.918T>G (p.Asn306Lys) |
single nucleotide variant |
Early infantile epileptic encephalopathy with suppression bursts [RCV003068556]|not provided [RCV003229932] |
Chr2:166051765 [GRCh38]
Chr2:166908275 [GRCh37]
Chr2:2q24.3 |
uncertain significance |
| NM_001165963.4(SCN1A):c.4573_4581del (p.Arg1525_Gly1527del) |
deletion |
Early infantile epileptic encephalopathy with suppression bursts [RCV003049494] |
Chr2:165996013..165996021 [GRCh38]
Chr2:166852523..166852531 [GRCh37]
Chr2:2q24.3 |
pathogenic |
| NM_001165963.4(SCN1A):c.3880-15T>C |
single nucleotide variant |
Early infantile epileptic encephalopathy with suppression bursts [RCV002603679] |
Chr2:166009856 [GRCh38]
Chr2:166866366 [GRCh37]
Chr2:2q24.3 |
likely benign |
| NM_001165963.4(SCN1A):c.3896T>C (p.Leu1299Ser) |
single nucleotide variant |
Early infantile epileptic encephalopathy with suppression bursts [RCV003069036] |
Chr2:166009825 [GRCh38]
Chr2:166866335 [GRCh37]
Chr2:2q24.3 |
uncertain significance |
| NM_001165963.4(SCN1A):c.1239C>A (p.Tyr413Ter) |
single nucleotide variant |
Generalized epilepsy with febrile seizures plus, type 2 [RCV003153192] |
Chr2:166046908 [GRCh38]
Chr2:166903418 [GRCh37]
Chr2:2q24.3 |
likely pathogenic |
| NM_001165963.4(SCN1A):c.1545A>G (p.Lys515=) |
single nucleotide variant |
Early infantile epileptic encephalopathy with suppression bursts [RCV002588965] |
Chr2:166045160 [GRCh38]
Chr2:166901670 [GRCh37]
Chr2:2q24.3 |
likely benign |
| NM_001165963.4(SCN1A):c.468T>A (p.Asn156Lys) |
single nucleotide variant |
Early infantile epileptic encephalopathy with suppression bursts [RCV003052386] |
Chr2:166056416 [GRCh38]
Chr2:166912926 [GRCh37]
Chr2:2q24.3 |
uncertain significance |
| NM_001165963.4(SCN1A):c.4853-13T>C |
single nucleotide variant |
Early infantile epileptic encephalopathy with suppression bursts [RCV002607520] |
Chr2:165992435 [GRCh38]
Chr2:166848945 [GRCh37]
Chr2:2q24.3 |
likely benign |
| NM_001165963.4(SCN1A):c.1978C>A (p.Pro660Thr) |
single nucleotide variant |
Early infantile epileptic encephalopathy with suppression bursts [RCV003072774] |
Chr2:166043734 [GRCh38]
Chr2:166900244 [GRCh37]
Chr2:2q24.3 |
uncertain significance |
| NM_001165963.4(SCN1A):c.4736T>C (p.Val1579Ala) |
single nucleotide variant |
Early infantile epileptic encephalopathy with suppression bursts [RCV003070462] |
Chr2:165994262 [GRCh38]
Chr2:166850772 [GRCh37]
Chr2:2q24.3 |
uncertain significance |
| NM_001165963.4(SCN1A):c.1047T>C (p.Tyr349=) |
single nucleotide variant |
Early infantile epileptic encephalopathy with suppression bursts [RCV002584541] |
Chr2:166047750 [GRCh38]
Chr2:166904260 [GRCh37]
Chr2:2q24.3 |
likely benign |
| NM_001165963.4(SCN1A):c.1390G>C (p.Ala464Pro) |
single nucleotide variant |
Early infantile epileptic encephalopathy with suppression bursts [RCV002590235] |
Chr2:166045315 [GRCh38]
Chr2:166901825 [GRCh37]
Chr2:2q24.3 |
likely benign |
| NM_001165963.4(SCN1A):c.4805T>C (p.Ile1602Thr) |
single nucleotide variant |
Early infantile epileptic encephalopathy with suppression bursts [RCV003052128] |
Chr2:165994193 [GRCh38]
Chr2:166850703 [GRCh37]
Chr2:2q24.3 |
uncertain significance |
| NM_001165963.4(SCN1A):c.3524T>C (p.Leu1175Pro) |
single nucleotide variant |
Early infantile epileptic encephalopathy with suppression bursts [RCV002585503] |
Chr2:166015633 [GRCh38]
Chr2:166872143 [GRCh37]
Chr2:2q24.3 |
benign |
| NM_001165963.4(SCN1A):c.3880-11del |
deletion |
Early infantile epileptic encephalopathy with suppression bursts [RCV002603678] |
Chr2:166009852 [GRCh38]
Chr2:166866362 [GRCh37]
Chr2:2q24.3 |
benign |
| NM_001165963.4(SCN1A):c.4245T>A (p.Phe1415Leu) |
single nucleotide variant |
Early infantile epileptic encephalopathy with suppression bursts [RCV002942835] |
Chr2:166002511 [GRCh38]
Chr2:166859021 [GRCh37]
Chr2:2q24.3 |
likely pathogenic |
| NM_001165963.4(SCN1A):c.3395T>C (p.Phe1132Ser) |
single nucleotide variant |
Early infantile epileptic encephalopathy with suppression bursts [RCV002584736] |
Chr2:166036082 [GRCh38]
Chr2:166892592 [GRCh37]
Chr2:2q24.3 |
uncertain significance |
| NM_001165963.4(SCN1A):c.4852+5G>C |
single nucleotide variant |
Early infantile epileptic encephalopathy with suppression bursts [RCV003093763] |
Chr2:165994141 [GRCh38]
Chr2:166850651 [GRCh37]
Chr2:2q24.3 |
pathogenic|uncertain significance |
| NM_001165963.4(SCN1A):c.4867G>A (p.Glu1623Lys) |
single nucleotide variant |
Early infantile epileptic encephalopathy with suppression bursts [RCV002610909] |
Chr2:165992408 [GRCh38]
Chr2:166848918 [GRCh37]
Chr2:2q24.3 |
uncertain significance |
| NM_001165963.4(SCN1A):c.4002+2501C>T |
single nucleotide variant |
Early infantile epileptic encephalopathy with suppression bursts [RCV002814391] |
Chr2:166007218 [GRCh38]
Chr2:166863728 [GRCh37]
Chr2:2q24.3 |
likely benign |
| NM_001165963.4(SCN1A):c.2292_2293inv (p.Val765Met) |
inversion |
Early infantile epileptic encephalopathy with suppression bursts [RCV003066415] |
Chr2:166041353..166041354 [GRCh38]
Chr2:166897863..166897864 [GRCh37]
Chr2:2q24.3 |
uncertain significance |
| NM_001165963.4(SCN1A):c.4374C>A (p.Tyr1458Ter) |
single nucleotide variant |
Early infantile epileptic encephalopathy with suppression bursts [RCV002613186] |
Chr2:165998140 [GRCh38]
Chr2:166854650 [GRCh37]
Chr2:2q24.3 |
pathogenic |
| NM_001165963.4(SCN1A):c.1184C>A (p.Ala395Asp) |
single nucleotide variant |
Early infantile epileptic encephalopathy with suppression bursts [RCV002613187] |
Chr2:166046963 [GRCh38]
Chr2:166903473 [GRCh37]
Chr2:2q24.3 |
likely pathogenic |
| NM_001165963.4(SCN1A):c.5490G>A (p.Gln1830=) |
single nucleotide variant |
Early infantile epileptic encephalopathy with suppression bursts [RCV003066716] |
Chr2:165991785 [GRCh38]
Chr2:166848295 [GRCh37]
Chr2:2q24.3 |
likely benign |
| NM_001165963.4(SCN1A):c.4002+2033G>C |
single nucleotide variant |
Early infantile epileptic encephalopathy with suppression bursts [RCV002722060] |
Chr2:166007686 [GRCh38]
Chr2:166864196 [GRCh37]
Chr2:2q24.3 |
likely benign |
| NM_001165963.4(SCN1A):c.3186G>A (p.Met1062Ile) |
single nucleotide variant |
Early infantile epileptic encephalopathy with suppression bursts [RCV003093119] |
Chr2:166036291 [GRCh38]
Chr2:166892801 [GRCh37]
Chr2:2q24.3 |
uncertain significance |
| NM_001165963.4(SCN1A):c.2372C>A (p.Pro791Gln) |
single nucleotide variant |
Early infantile epileptic encephalopathy with suppression bursts [RCV002604957] |
Chr2:166041274 [GRCh38]
Chr2:166897784 [GRCh37]
Chr2:2q24.3 |
uncertain significance |
| NM_001165963.4(SCN1A):c.474-10T>C |
single nucleotide variant |
Early infantile epileptic encephalopathy with suppression bursts [RCV003072700] |
Chr2:166054776 [GRCh38]
Chr2:166911286 [GRCh37]
Chr2:2q24.3 |
likely benign |
| NM_001165963.4(SCN1A):c.4338+1G>A |
single nucleotide variant |
Early infantile epileptic encephalopathy with suppression bursts [RCV003068985] |
Chr2:165999722 [GRCh38]
Chr2:166856232 [GRCh37]
Chr2:2q24.3 |
pathogenic |
| NM_001165963.4(SCN1A):c.4002+2634G>A |
single nucleotide variant |
Early infantile epileptic encephalopathy with suppression bursts [RCV002612773] |
Chr2:166007085 [GRCh38]
Chr2:166863595 [GRCh37]
Chr2:2q24.3 |
likely benign |
| NM_001165963.4(SCN1A):c.3182del (p.Cys1061fs) |
deletion |
Severe myoclonic epilepsy in infancy [RCV003326177] |
Chr2:166036295 [GRCh38]
Chr2:166892805 [GRCh37]
Chr2:2q24.3 |
pathogenic |
| NM_001165963.4(SCN1A):c.1171-1G>A |
single nucleotide variant |
Developmental and epileptic encephalopathy 6B [RCV003159277] |
Chr2:166046977 [GRCh38]
Chr2:166903487 [GRCh37]
Chr2:2q24.3 |
likely pathogenic |
| NM_001165963.4(SCN1A):c.4672A>G (p.Met1558Val) |
single nucleotide variant |
not provided [RCV003229407] |
Chr2:165994326 [GRCh38]
Chr2:166850836 [GRCh37]
Chr2:2q24.3 |
uncertain significance |
| NM_001165963.4(SCN1A):c.4002+2454G>A |
single nucleotide variant |
not provided [RCV003227310] |
Chr2:166007265 [GRCh38]
Chr2:166863775 [GRCh37]
Chr2:2q24.3 |
uncertain significance |
| NM_001165963.4(SCN1A):c.1588A>G (p.Arg530Gly) |
single nucleotide variant |
not provided [RCV003229227] |
Chr2:166045117 [GRCh38]
Chr2:166901627 [GRCh37]
Chr2:2q24.3 |
uncertain significance |
| NM_001165963.4(SCN1A):c.3658T>C (p.Phe1220Leu) |
single nucleotide variant |
not provided [RCV003223046] |
Chr2:166013791 [GRCh38]
Chr2:166870301 [GRCh37]
Chr2:2q24.3 |
likely pathogenic |
| NM_001165963.4(SCN1A):c.995A>T (p.Asp332Val) |
single nucleotide variant |
not provided [RCV003223050] |
Chr2:166048919 [GRCh38]
Chr2:166905429 [GRCh37]
Chr2:2q24.3 |
uncertain significance |
| NM_001165963.4(SCN1A):c.5093A>G (p.Glu1698Gly) |
single nucleotide variant |
not provided [RCV003223438] |
Chr2:165992182 [GRCh38]
Chr2:166848692 [GRCh37]
Chr2:2q24.3 |
uncertain significance |
| NM_001165963.4(SCN1A):c.3880-1G>A |
single nucleotide variant |
Early infantile epileptic encephalopathy with suppression bursts [RCV003588864]|not provided [RCV003133914] |
Chr2:166009842 [GRCh38]
Chr2:166866352 [GRCh37]
Chr2:2q24.3 |
pathogenic|likely pathogenic |
| NM_001165963.4(SCN1A):c.982G>A (p.Glu328Lys) |
single nucleotide variant |
not provided [RCV003228329] |
Chr2:166048932 [GRCh38]
Chr2:166905442 [GRCh37]
Chr2:2q24.3 |
uncertain significance |
| NM_001165963.4(SCN1A):c.3422G>T (p.Ser1141Ile) |
single nucleotide variant |
not provided [RCV003223047] |
Chr2:166036055 [GRCh38]
Chr2:166892565 [GRCh37]
Chr2:2q24.3 |
uncertain significance |
| NM_001165963.4(SCN1A):c.4002+2455G>C |
single nucleotide variant |
not provided [RCV003223045] |
Chr2:166007264 [GRCh38]
Chr2:166863774 [GRCh37]
Chr2:2q24.3 |
uncertain significance |
| NM_001165963.4(SCN1A):c.1182T>C (p.Ala394=) |
single nucleotide variant |
not provided [RCV003223049] |
Chr2:166046965 [GRCh38]
Chr2:166903475 [GRCh37]
Chr2:2q24.3 |
likely benign |
| NM_001165963.4(SCN1A):c.2011del (p.Glu670_Val671insTer) |
deletion |
not provided [RCV003223048] |
Chr2:166043701 [GRCh38]
Chr2:166900211 [GRCh37]
Chr2:2q24.3 |
pathogenic |
| NM_001165963.4(SCN1A):c.4396T>G (p.Phe1466Val) |
single nucleotide variant |
Early infantile epileptic encephalopathy with suppression bursts [RCV003753262]|Generalized epilepsy with febrile seizures plus, type 2 [RCV003142270] |
Chr2:165998118 [GRCh38]
Chr2:166854628 [GRCh37]
Chr2:2q24.3 |
pathogenic|uncertain significance |
| NM_001165963.4(SCN1A):c.2048C>A (p.Thr683Lys) |
single nucleotide variant |
Generalized epilepsy with febrile seizures plus, type 2 [RCV003224643]|Severe myoclonic epilepsy in infancy [RCV003142344] |
Chr2:166042420 [GRCh38]
Chr2:166898930 [GRCh37]
Chr2:2q24.3 |
pathogenic|uncertain significance |
| NM_001165963.4(SCN1A):c.3154GAT[1] (p.Asp1053del) |
microsatellite |
not provided [RCV003136422] |
Chr2:166036318..166036320 [GRCh38]
Chr2:166892828..166892830 [GRCh37]
Chr2:2q24.3 |
uncertain significance |
| NM_001165963.4(SCN1A):c.2078G>A (p.Arg693Lys) |
single nucleotide variant |
Early infantile epileptic encephalopathy with suppression bursts [RCV003778784]|not provided [RCV003136423] |
Chr2:166042390 [GRCh38]
Chr2:166898900 [GRCh37]
Chr2:2q24.3 |
likely benign|uncertain significance |
| NM_001165963.4(SCN1A):c.6027A>G (p.Lys2009=) |
single nucleotide variant |
not provided [RCV003136424] |
Chr2:165991248 [GRCh38]
Chr2:166847758 [GRCh37]
Chr2:2q24.3 |
uncertain significance |
| NM_001165963.4(SCN1A):c.1171-6T>C |
single nucleotide variant |
Early infantile epileptic encephalopathy with suppression bursts [RCV003588868]|not provided [RCV003136425] |
Chr2:166046982 [GRCh38]
Chr2:166903492 [GRCh37]
Chr2:2q24.3 |
likely benign|uncertain significance |
| NM_001165963.4(SCN1A):c.4668C>T (p.Val1556=) |
single nucleotide variant |
not provided [RCV003136426] |
Chr2:165994330 [GRCh38]
Chr2:166850840 [GRCh37]
Chr2:2q24.3 |
uncertain significance |
| NM_001165963.4(SCN1A):c.4200A>G (p.Ile1400Met) |
single nucleotide variant |
not provided [RCV003136427] |
Chr2:166002556 [GRCh38]
Chr2:166859066 [GRCh37]
Chr2:2q24.3 |
uncertain significance |
| NM_001165963.4(SCN1A):c.4141A>G (p.Thr1381Ala) |
single nucleotide variant |
not provided [RCV003136428] |
Chr2:166002615 [GRCh38]
Chr2:166859125 [GRCh37]
Chr2:2q24.3 |
uncertain significance |
| NM_001165963.4(SCN1A):c.4285-3T>C |
single nucleotide variant |
not provided [RCV003136429] |
Chr2:165999779 [GRCh38]
Chr2:166856289 [GRCh37]
Chr2:2q24.3 |
uncertain significance |
| NM_001165963.4(SCN1A):c.3308T>G (p.Met1103Arg) |
single nucleotide variant |
not provided [RCV003142756] |
Chr2:166036169 [GRCh38]
Chr2:166892679 [GRCh37]
Chr2:2q24.3 |
uncertain significance |
| NM_001165963.4(SCN1A):c.2175A>C (p.Glu725Asp) |
single nucleotide variant |
not provided [RCV003142757] |
Chr2:166042293 [GRCh38]
Chr2:166898803 [GRCh37]
Chr2:2q24.3 |
uncertain significance |
| NM_001165963.4(SCN1A):c.3399T>C (p.Ser1133=) |
single nucleotide variant |
not provided [RCV003142758] |
Chr2:166036078 [GRCh38]
Chr2:166892588 [GRCh37]
Chr2:2q24.3 |
uncertain significance |
| NM_001165963.4(SCN1A):c.5392G>T (p.Glu1798Ter) |
single nucleotide variant |
not provided [RCV003133905] |
Chr2:165991883 [GRCh38]
Chr2:166848393 [GRCh37]
Chr2:2q24.3 |
likely pathogenic |
| NM_001165963.4(SCN1A):c.2293G>A (p.Val765Met) |
single nucleotide variant |
SCN1A-related condition [RCV003906664]|not provided [RCV003159392] |
Chr2:166041353 [GRCh38]
Chr2:166897863 [GRCh37]
Chr2:2q24.3 |
uncertain significance |
| NM_001165963.4(SCN1A):c.4412C>G (p.Ser1471Cys) |
single nucleotide variant |
Severe myoclonic epilepsy in infancy [RCV003226889]|not specified [RCV003235813] |
Chr2:165998102 [GRCh38]
Chr2:166854612 [GRCh37]
Chr2:2q24.3 |
likely pathogenic|uncertain significance |
| NM_001165963.4(SCN1A):c.4436T>C (p.Ile1479Thr) |
single nucleotide variant |
not provided [RCV003228554] |
Chr2:165998078 [GRCh38]
Chr2:166854588 [GRCh37]
Chr2:2q24.3 |
likely pathogenic |
| NM_001165963.4(SCN1A):c.5263G>A (p.Asp1755Asn) |
single nucleotide variant |
Migraine, familial hemiplegic, 3 [RCV003224729] |
Chr2:165992012 [GRCh38]
Chr2:166848522 [GRCh37]
Chr2:2q24.3 |
uncertain significance |
| NM_001165963.4(SCN1A):c.563A>G (p.Asp188Gly) |
single nucleotide variant |
not provided [RCV003223051] |
Chr2:166054677 [GRCh38]
Chr2:166911187 [GRCh37]
Chr2:2q24.3 |
likely pathogenic |
| NM_001165963.4(SCN1A):c.53C>T (p.Thr18Ile) |
single nucleotide variant |
not provided [RCV003223052] |
Chr2:166073569 [GRCh38]
Chr2:166930079 [GRCh37]
Chr2:2q24.3 |
uncertain significance |
| NM_001165963.4(SCN1A):c.2285A>T (p.Asn762Ile) |
single nucleotide variant |
Inborn genetic diseases [RCV003219460] |
Chr2:166041361 [GRCh38]
Chr2:166897871 [GRCh37]
Chr2:2q24.3 |
uncertain significance |
| NM_001165963.4(SCN1A):c.3961_3962del (p.Leu1321fs) |
microsatellite |
Severe myoclonic epilepsy in infancy [RCV003322714] |
Chr2:166009759..166009760 [GRCh38]
Chr2:166866269..166866270 [GRCh37]
Chr2:2q24.3 |
likely pathogenic |
| NM_001165963.4(SCN1A):c.965-480T>C |
single nucleotide variant |
not provided [RCV003322230] |
Chr2:166049429 [GRCh38]
Chr2:166905939 [GRCh37]
Chr2:2q24.3 |
uncertain significance |
| NM_001165963.4(SCN1A):c.2344A>C (p.Thr782Pro) |
single nucleotide variant |
Severe myoclonic epilepsy in infancy [RCV003324608] |
Chr2:166041302 [GRCh38]
Chr2:166897812 [GRCh37]
Chr2:2q24.3 |
pathogenic |
| NM_001165963.4(SCN1A):c.1714A>G (p.Thr572Ala) |
single nucleotide variant |
not provided [RCV003318871] |
Chr2:166043998 [GRCh38]
Chr2:166900508 [GRCh37]
Chr2:2q24.3 |
uncertain significance |
| NM_001165963.4(SCN1A):c.965-2A>G |
single nucleotide variant |
Severe myoclonic epilepsy in infancy [RCV003459827] |
Chr2:166048951 [GRCh38]
Chr2:166905461 [GRCh37]
Chr2:2q24.3 |
pathogenic |
| NM_001165963.4(SCN1A):c.3544A>G (p.Thr1182Ala) |
single nucleotide variant |
Inborn genetic diseases [RCV003287518] |
Chr2:166015613 [GRCh38]
Chr2:166872123 [GRCh37]
Chr2:2q24.3 |
uncertain significance |
| NM_001165963.4(SCN1A):c.1130G>T (p.Arg377Leu) |
single nucleotide variant |
not provided [RCV003325170] |
Chr2:166047667 [GRCh38]
Chr2:166904177 [GRCh37]
Chr2:2q24.3 |
pathogenic |
| NM_001165963.4(SCN1A):c.3172A>G (p.Lys1058Glu) |
single nucleotide variant |
not provided [RCV003319603] |
Chr2:166036305 [GRCh38]
Chr2:166892815 [GRCh37]
Chr2:2q24.3 |
uncertain significance |
| NM_001165963.4(SCN1A):c.2420T>A (p.Phe807Tyr) |
single nucleotide variant |
not provided [RCV003325097] |
Chr2:166039592 [GRCh38]
Chr2:166896102 [GRCh37]
Chr2:2q24.3 |
uncertain significance |
| NM_001165963.4(SCN1A):c.695-1G>A |
single nucleotide variant |
not provided [RCV003322081] |
Chr2:166051989 [GRCh38]
Chr2:166908499 [GRCh37]
Chr2:2q24.3 |
likely pathogenic |
| NM_001165963.4(SCN1A):c.3697G>A (p.Gly1233Ser) |
single nucleotide variant |
Severe myoclonic epilepsy in infancy [RCV003340675]|not provided [RCV003332514] |
Chr2:166013752 [GRCh38]
Chr2:166870262 [GRCh37]
Chr2:2q24.3 |
uncertain significance |
| NM_001165963.4(SCN1A):c.3622A>G (p.Arg1208Gly) |
single nucleotide variant |
not provided [RCV003327047] |
Chr2:166013827 [GRCh38]
Chr2:166870337 [GRCh37]
Chr2:2q24.3 |
uncertain significance |
| NM_001165963.4(SCN1A):c.5975C>T (p.Pro1992Leu) |
single nucleotide variant |
not provided [RCV003329053] |
Chr2:165991300 [GRCh38]
Chr2:166847810 [GRCh37]
Chr2:2q24.3 |
uncertain significance |
| NM_001165963.4(SCN1A):c.964A>G (p.Arg322Gly) |
single nucleotide variant |
not provided [RCV003327049] |
Chr2:166051719 [GRCh38]
Chr2:166908229 [GRCh37]
Chr2:2q24.3 |
uncertain significance |
| NM_001165963.4(SCN1A):c.1850_1851del (p.Arg617fs) |
microsatellite |
not provided [RCV003327048] |
Chr2:166043861..166043862 [GRCh38]
Chr2:166900371..166900372 [GRCh37]
Chr2:2q24.3 |
pathogenic |
| NM_001165963.4(SCN1A):c.382T>G (p.Ser128Ala) |
single nucleotide variant |
not provided [RCV003329677] |
Chr2:166058571 [GRCh38]
Chr2:166915081 [GRCh37]
Chr2:2q24.3 |
uncertain significance |
| NM_001165963.4(SCN1A):c.4667T>C (p.Val1556Ala) |
single nucleotide variant |
not provided [RCV003325913] |
Chr2:165994331 [GRCh38]
Chr2:166850841 [GRCh37]
Chr2:2q24.3 |
likely pathogenic |
| NM_001165963.4(SCN1A):c.5455G>T (p.Ala1819Ser) |
single nucleotide variant |
Severe myoclonic epilepsy in infancy [RCV003330214] |
Chr2:165991820 [GRCh38]
Chr2:166848330 [GRCh37]
Chr2:2q24.3 |
uncertain significance |
| NM_001165963.4(SCN1A):c.4338+17T>A |
single nucleotide variant |
Early infantile epileptic encephalopathy with suppression bursts [RCV003852871] |
Chr2:165999706 [GRCh38]
Chr2:166856216 [GRCh37]
Chr2:2q24.3 |
likely benign |
| NM_001165963.4(SCN1A):c.1033T>A (p.Cys345Ser) |
single nucleotide variant |
Generalized epilepsy with febrile seizures plus, type 2 [RCV003340794] |
Chr2:166047764 [GRCh38]
Chr2:166904274 [GRCh37]
Chr2:2q24.3 |
uncertain significance |
| NM_001165963.4(SCN1A):c.4380T>G (p.Tyr1460Ter) |
single nucleotide variant |
Developmental and epileptic encephalopathy 6B [RCV003340699] |
Chr2:165998134 [GRCh38]
Chr2:166854644 [GRCh37]
Chr2:2q24.3 |
likely pathogenic |
| NM_001165963.4(SCN1A):c.5611_5617del (p.Phe1871fs) |
deletion |
Severe myoclonic epilepsy in infancy [RCV003340695] |
Chr2:165991658..165991664 [GRCh38]
Chr2:166848168..166848174 [GRCh37]
Chr2:2q24.3 |
uncertain significance |
| NM_001165963.4(SCN1A):c.4769T>G (p.Leu1590Arg) |
single nucleotide variant |
Developmental and epileptic encephalopathy 6B [RCV003337925] |
Chr2:165994229 [GRCh38]
Chr2:166850739 [GRCh37]
Chr2:2q24.3 |
uncertain significance |
| NM_001165963.4(SCN1A):c.2847del (p.Cys949fs) |
deletion |
Severe myoclonic epilepsy in infancy [RCV003334430] |
Chr2:166037875 [GRCh38]
Chr2:166894385 [GRCh37]
Chr2:2q24.3 |
likely pathogenic |
| NM_001165963.4(SCN1A):c.4620_4627del (p.Arg1540fs) |
deletion |
Generalized epilepsy with febrile seizures plus, type 2 [RCV003335793] |
Chr2:165994371..165994378 [GRCh38]
Chr2:166850881..166850888 [GRCh37]
Chr2:2q24.3 |
pathogenic |
| NM_001165963.4(SCN1A):c.801del (p.Gln267fs) |
deletion |
Generalized epilepsy with febrile seizures plus, type 2 [RCV003335794] |
Chr2:166051882 [GRCh38]
Chr2:166908392 [GRCh37]
Chr2:2q24.3 |
pathogenic |
| NM_001165963.4(SCN1A):c.1739G>T (p.Arg580Leu) |
single nucleotide variant |
Generalized epilepsy with febrile seizures plus, type 2 [RCV003333852] |
Chr2:166043973 [GRCh38]
Chr2:166900483 [GRCh37]
Chr2:2q24.3 |
uncertain significance |
| NM_001165963.4(SCN1A):c.2800A>C (p.Met934Leu) |
single nucleotide variant |
Developmental and epileptic encephalopathy 6B [RCV003334469] |
Chr2:166037922 [GRCh38]
Chr2:166894432 [GRCh37]
Chr2:2q24.3 |
likely pathogenic |
| NM_001165963.4(SCN1A):c.5429A>G (p.Glu1810Gly) |
single nucleotide variant |
not provided [RCV003332509] |
Chr2:165991846 [GRCh38]
Chr2:166848356 [GRCh37]
Chr2:2q24.3 |
likely pathogenic |
| NM_001165963.4(SCN1A):c.2257T>C (p.Tyr753His) |
single nucleotide variant |
not provided [RCV003332517] |
Chr2:166041389 [GRCh38]
Chr2:166897899 [GRCh37]
Chr2:2q24.3 |
uncertain significance |
| NM_001165963.4(SCN1A):c.1843G>A (p.Gly615Arg) |
single nucleotide variant |
Early infantile epileptic encephalopathy with suppression bursts [RCV003588910]|SCN1A-related condition [RCV003421184] |
Chr2:166043869 [GRCh38]
Chr2:166900379 [GRCh37]
Chr2:2q24.3 |
likely benign|uncertain significance |
| NM_001165963.4(SCN1A):c.1377+3A>G |
single nucleotide variant |
Generalized epilepsy with febrile seizures plus, type 2 [RCV003333421] |
Chr2:166046767 [GRCh38]
Chr2:166903277 [GRCh37]
Chr2:2q24.3 |
uncertain significance |
| NM_001165963.4(SCN1A):c.87T>G (p.Ile29Met) |
single nucleotide variant |
Early infantile epileptic encephalopathy with suppression bursts [RCV003875056] |
Chr2:166073535 [GRCh38]
Chr2:166930045 [GRCh37]
Chr2:2q24.3 |
uncertain significance |
| NM_001165963.4(SCN1A):c.2369del (p.Tyr790fs) |
deletion |
not provided [RCV003482855] |
Chr2:166041277 [GRCh38]
Chr2:166897787 [GRCh37]
Chr2:2q24.3 |
likely pathogenic |
| NM_001165963.4(SCN1A):c.4122C>G (p.Tyr1374Ter) |
single nucleotide variant |
Generalized epilepsy with febrile seizures plus, type 2 [RCV003445323] |
Chr2:166002634 [GRCh38]
Chr2:166859144 [GRCh37]
Chr2:2q24.3 |
likely pathogenic |
| NM_001165963.4(SCN1A):c.522T>C (p.Ile174=) |
single nucleotide variant |
Early infantile epileptic encephalopathy with suppression bursts [RCV003872703] |
Chr2:166054718 [GRCh38]
Chr2:166911228 [GRCh37]
Chr2:2q24.3 |
likely benign |
| NM_001165963.4(SCN1A):c.5581C>A (p.Arg1861=) |
single nucleotide variant |
Early infantile epileptic encephalopathy with suppression bursts [RCV003875788] |
Chr2:165991694 [GRCh38]
Chr2:166848204 [GRCh37]
Chr2:2q24.3 |
likely benign |
| NM_001165963.4(SCN1A):c.5233A>T (p.Lys1745Ter) |
single nucleotide variant |
Autosomal dominant epilepsy [RCV003479944] |
Chr2:165992042 [GRCh38]
Chr2:166848552 [GRCh37]
Chr2:2q24.3 |
pathogenic |
| NM_001165963.4(SCN1A):c.1248T>G (p.Asn416Lys) |
single nucleotide variant |
Epileptic encephalopathy [RCV003484993] |
Chr2:166046899 [GRCh38]
Chr2:166903409 [GRCh37]
Chr2:2q24.3 |
pathogenic |
| NM_001165963.4(SCN1A):c.5469_5470del (p.Met1823fs) |
deletion |
Epileptic encephalopathy [RCV003485000] |
Chr2:165991805..165991806 [GRCh38]
Chr2:166848315..166848316 [GRCh37]
Chr2:2q24.3 |
likely pathogenic |
| NM_001165963.4(SCN1A):c.3612del (p.Trp1204fs) |
deletion |
Epileptic encephalopathy [RCV003485001] |
Chr2:166013837 [GRCh38]
Chr2:166870347 [GRCh37]
Chr2:2q24.3 |
likely pathogenic |
| NM_001165963.4(SCN1A):c.4708_4709del (p.Thr1570fs) |
deletion |
Severe myoclonic epilepsy in infancy [RCV003389941] |
Chr2:165994289..165994290 [GRCh38]
Chr2:166850799..166850800 [GRCh37]
Chr2:2q24.3 |
not provided |
| NM_001165963.4(SCN1A):c.154A>G (p.Asn52Asp) |
single nucleotide variant |
SCN1A-related condition [RCV003391613] |
Chr2:166073468 [GRCh38]
Chr2:166929978 [GRCh37]
Chr2:2q24.3 |
uncertain significance |
| NM_001165963.4(SCN1A):c.3055A>G (p.Met1019Val) |
single nucleotide variant |
SCN1A-related condition [RCV003421131] |
Chr2:166036422 [GRCh38]
Chr2:166892932 [GRCh37]
Chr2:2q24.3 |
uncertain significance |
| NM_001165963.4(SCN1A):c.4476G>C (p.Lys1492Asn) |
single nucleotide variant |
not provided [RCV003482856] |
Chr2:165998038 [GRCh38]
Chr2:166854548 [GRCh37]
Chr2:2q24.3 |
uncertain significance |
| GRCh37/hg19 2q24.3(chr2:166937534-167234294)x3 |
copy number gain |
not provided [RCV003484079] |
Chr2:166937534..167234294 [GRCh37]
Chr2:2q24.3 |
uncertain significance |
| NM_001165963.4(SCN1A):c.793G>C (p.Gly265Arg) |
single nucleotide variant |
Severe myoclonic epilepsy in infancy [RCV003445334] |
Chr2:166051890 [GRCh38]
Chr2:166908400 [GRCh37]
Chr2:2q24.3 |
uncertain significance |
| NM_001165963.4(SCN1A):c.900T>A (p.Tyr300Ter) |
single nucleotide variant |
Autosomal dominant epilepsy [RCV003479621] |
Chr2:166051783 [GRCh38]
Chr2:166908293 [GRCh37]
Chr2:2q24.3 |
pathogenic |
| GRCh37/hg19 2q24.3(chr2:166899878-166920402)x1 |
copy number loss |
not provided [RCV003485138] |
Chr2:166899878..166920402 [GRCh37]
Chr2:2q24.3 |
pathogenic |
| NM_001165963.4(SCN1A):c.4124A>C (p.His1375Pro) |
single nucleotide variant |
Early infantile epileptic encephalopathy with suppression bursts [RCV003753295]|Severe myoclonic epilepsy in infancy [RCV003455878] |
Chr2:166002632 [GRCh38]
Chr2:166859142 [GRCh37]
Chr2:2q24.3 |
likely pathogenic |
| NM_001165963.4(SCN1A):c.5630G>A (p.Gly1877Glu) |
single nucleotide variant |
not provided [RCV003442653] |
Chr2:165991645 [GRCh38]
Chr2:166848155 [GRCh37]
Chr2:2q24.3 |
uncertain significance |
| NM_001165963.4(SCN1A):c.3556G>A (p.Val1186Ile) |
single nucleotide variant |
not provided [RCV003442661] |
Chr2:166013893 [GRCh38]
Chr2:166870403 [GRCh37]
Chr2:2q24.3 |
uncertain significance |
| NM_001165963.4(SCN1A):c.1312G>C (p.Glu438Gln) |
single nucleotide variant |
not provided [RCV003436230] |
Chr2:166046835 [GRCh38]
Chr2:166903345 [GRCh37]
Chr2:2q24.3 |
uncertain significance |
| NM_001165963.4(SCN1A):c.4654T>C (p.Cys1552Arg) |
single nucleotide variant |
Early infantile epileptic encephalopathy with suppression bursts [RCV003753293]|not provided [RCV003442541] |
Chr2:165994344 [GRCh38]
Chr2:166850854 [GRCh37]
Chr2:2q24.3 |
uncertain significance |
| NM_001165963.4(SCN1A):c.4002+2322A>G |
single nucleotide variant |
not provided [RCV003481619] |
Chr2:166007397 [GRCh38]
Chr2:166863907 [GRCh37]
Chr2:2q24.3 |
uncertain significance |
| NM_001165963.4(SCN1A):c.626_694+31del |
deletion |
not provided [RCV003436231] |
Chr2:166052821..166052920 [GRCh38]
Chr2:166909331..166909430 [GRCh37]
Chr2:2q24.3 |
pathogenic |
| NM_001165963.4(SCN1A):c.2739T>C (p.Gly913=) |
single nucleotide variant |
Severe myoclonic epilepsy in infancy [RCV003444164] |
Chr2:166037983 [GRCh38]
Chr2:166894493 [GRCh37]
Chr2:2q24.3 |
uncertain significance |
| NM_001165963.4(SCN1A):c.4431G>T (p.Leu1477=) |
single nucleotide variant |
not provided [RCV003436229] |
Chr2:165998083 [GRCh38]
Chr2:166854593 [GRCh37]
Chr2:2q24.3 |
likely benign |
| NM_001165963.4(SCN1A):c.3824G>T (p.Gly1275Val) |
single nucleotide variant |
Developmental and epileptic encephalopathy 6B [RCV003389938] |
Chr2:166012164 [GRCh38]
Chr2:166868674 [GRCh37]
Chr2:2q24.3 |
not provided |
| NM_001165963.4(SCN1A):c.1511G>C (p.Arg504Thr) |
single nucleotide variant |
not provided [RCV003443398] |
Chr2:166045194 [GRCh38]
Chr2:166901704 [GRCh37]
Chr2:2q24.3 |
uncertain significance |
| NM_001165963.4(SCN1A):c.3908C>T (p.Ala1303Val) |
single nucleotide variant |
not provided [RCV003429348] |
Chr2:166009813 [GRCh38]
Chr2:166866323 [GRCh37]
Chr2:2q24.3 |
uncertain significance |
| NM_001165963.4(SCN1A):c.265-2137C>T |
single nucleotide variant |
not provided [RCV003429351] |
Chr2:166060825 [GRCh38]
Chr2:166917335 [GRCh37]
Chr2:2q24.3 |
benign |
| NM_001165963.4(SCN1A):c.2510G>A (p.Gly837Asp) |
single nucleotide variant |
not provided [RCV003443478] |
Chr2:166039502 [GRCh38]
Chr2:166896012 [GRCh37]
Chr2:2q24.3 |
uncertain significance |
| NM_001165963.4(SCN1A):c.4268T>G (p.Leu1423Arg) |
single nucleotide variant |
SCN1A Seizure Disorders [RCV003389306] |
Chr2:166002488 [GRCh38]
Chr2:166858998 [GRCh37]
Chr2:2q24.3 |
likely pathogenic |
| NM_001165963.4(SCN1A):c.4734G>T (p.Leu1578=) |
single nucleotide variant |
not provided [RCV003429346] |
Chr2:165994264 [GRCh38]
Chr2:166850774 [GRCh37]
Chr2:2q24.3 |
likely benign |
| NM_001165963.4(SCN1A):c.1191A>G (p.Lys397=) |
single nucleotide variant |
not provided [RCV003429350] |
Chr2:166046956 [GRCh38]
Chr2:166903466 [GRCh37]
Chr2:2q24.3 |
likely benign |
| NM_001165963.4(SCN1A):c.1997A>G (p.Gln666Arg) |
single nucleotide variant |
not provided [RCV003442402] |
Chr2:166043715 [GRCh38]
Chr2:166900225 [GRCh37]
Chr2:2q24.3 |
uncertain significance |
| NM_001165963.4(SCN1A):c.5075T>G (p.Phe1692Cys) |
single nucleotide variant |
SCN1A-related condition [RCV003408585] |
Chr2:165992200 [GRCh38]
Chr2:166848710 [GRCh37]
Chr2:2q24.3 |
likely pathogenic |
| NM_001165963.4(SCN1A):c.2445G>A (p.Met815Ile) |
single nucleotide variant |
not provided [RCV003429349] |
Chr2:166039567 [GRCh38]
Chr2:166896077 [GRCh37]
Chr2:2q24.3 |
uncertain significance |
| NM_001165963.4(SCN1A):c.5003C>T (p.Pro1668Leu) |
single nucleotide variant |
Severe myoclonic epilepsy in infancy [RCV003388793] |
Chr2:165992272 [GRCh38]
Chr2:166848782 [GRCh37]
Chr2:2q24.3 |
uncertain significance |
| NM_001165963.4(SCN1A):c.633T>C (p.Asn211=) |
single nucleotide variant |
not provided [RCV003436232] |
Chr2:166052913 [GRCh38]
Chr2:166909423 [GRCh37]
Chr2:2q24.3 |
likely benign |
| NM_001165963.4(SCN1A):c.377T>A (p.Val126Glu) |
single nucleotide variant |
Early infantile epileptic encephalopathy with suppression bursts [RCV003753281]|SCN1A-related condition [RCV003402407] |
Chr2:166058576 [GRCh38]
Chr2:166915086 [GRCh37]
Chr2:2q24.3 |
uncertain significance |
| NM_001165963.4(SCN1A):c.4687G>C (p.Asp1563His) |
single nucleotide variant |
not provided [RCV003429347] |
Chr2:165994311 [GRCh38]
Chr2:166850821 [GRCh37]
Chr2:2q24.3 |
uncertain significance |
| NM_001165963.4(SCN1A):c.3776T>A (p.Phe1259Tyr) |
single nucleotide variant |
Generalized epilepsy with febrile seizures plus, type 2 [RCV003388781] |
Chr2:166012212 [GRCh38]
Chr2:166868722 [GRCh37]
Chr2:2q24.3 |
uncertain significance |
| NM_001165963.4(SCN1A):c.1906C>T (p.Pro636Ser) |
single nucleotide variant |
SCN1A-related condition [RCV003400118] |
Chr2:166043806 [GRCh38]
Chr2:166900316 [GRCh37]
Chr2:2q24.3 |
uncertain significance |
| NM_001165963.4(SCN1A):c.173G>T (p.Gly58Val) |
single nucleotide variant |
Severe myoclonic epilepsy in infancy [RCV003494564] |
Chr2:166073449 [GRCh38]
Chr2:166929959 [GRCh37]
Chr2:2q24.3 |
likely pathogenic |
| NM_001165963.4(SCN1A):c.2415+1G>T |
single nucleotide variant |
Severe myoclonic epilepsy in infancy [RCV003485998] |
Chr2:166041230 [GRCh38]
Chr2:166897740 [GRCh37]
Chr2:2q24.3 |
likely pathogenic |
| NM_001165963.4(SCN1A):c.5427T>C (p.Tyr1809=) |
single nucleotide variant |
Early infantile epileptic encephalopathy with suppression bursts [RCV003878334] |
Chr2:165991848 [GRCh38]
Chr2:166848358 [GRCh37]
Chr2:2q24.3 |
likely benign |
| NM_001165963.4(SCN1A):c.241G>A (p.Asp81Asn) |
single nucleotide variant |
Migraine, familial hemiplegic, 3 [RCV003883276] |
Chr2:166073381 [GRCh38]
Chr2:166929891 [GRCh37]
Chr2:2q24.3 |
pathogenic |
| NM_001165963.4(SCN1A):c.4002+2008C>T |
single nucleotide variant |
Early infantile epileptic encephalopathy with suppression bursts [RCV003830191] |
Chr2:166007711 [GRCh38]
Chr2:166864221 [GRCh37]
Chr2:2q24.3 |
likely benign |
| NM_001165963.4(SCN1A):c.297C>T (p.Ile99=) |
single nucleotide variant |
Early infantile epileptic encephalopathy with suppression bursts [RCV003878059] |
Chr2:166058656 [GRCh38]
Chr2:166915166 [GRCh37]
Chr2:2q24.3 |
likely benign |
| NM_001165963.4(SCN1A):c.474-16G>C |
single nucleotide variant |
Early infantile epileptic encephalopathy with suppression bursts [RCV003827106] |
Chr2:166054782 [GRCh38]
Chr2:166911292 [GRCh37]
Chr2:2q24.3 |
likely benign |
| NM_001165963.4(SCN1A):c.544G>T (p.Asp182Tyr) |
single nucleotide variant |
not provided [RCV003491433] |
Chr2:166054696 [GRCh38]
Chr2:166911206 [GRCh37]
Chr2:2q24.3 |
uncertain significance |
| NM_001165963.4(SCN1A):c.2302C>G (p.Pro768Ala) |
single nucleotide variant |
Early infantile epileptic encephalopathy with suppression bursts [RCV003879151] |
Chr2:166041344 [GRCh38]
Chr2:166897854 [GRCh37]
Chr2:2q24.3 |
likely pathogenic |
| NM_001165963.4(SCN1A):c.5378C>T (p.Thr1793Ile) |
single nucleotide variant |
Early infantile epileptic encephalopathy with suppression bursts [RCV003879820] |
Chr2:165991897 [GRCh38]
Chr2:166848407 [GRCh37]
Chr2:2q24.3 |
uncertain significance |
| NM_001165963.4(SCN1A):c.694+3G>A |
single nucleotide variant |
Early infantile epileptic encephalopathy with suppression bursts [RCV003878572] |
Chr2:166052849 [GRCh38]
Chr2:166909359 [GRCh37]
Chr2:2q24.3 |
uncertain significance |
| NM_001165963.4(SCN1A):c.1171-20T>G |
single nucleotide variant |
Early infantile epileptic encephalopathy with suppression bursts [RCV003828149] |
Chr2:166046996 [GRCh38]
Chr2:166903506 [GRCh37]
Chr2:2q24.3 |
likely benign |
| NM_001165963.4(SCN1A):c.1285C>A (p.Gln429Lys) |
single nucleotide variant |
Migraine, familial hemiplegic, 3 [RCV003883365] |
Chr2:166046862 [GRCh38]
Chr2:166903372 [GRCh37]
Chr2:2q24.3 |
pathogenic |
| NM_001165963.4(SCN1A):c.774G>A (p.Leu258=) |
single nucleotide variant |
Early infantile epileptic encephalopathy with suppression bursts [RCV003850351] |
Chr2:166051909 [GRCh38]
Chr2:166908419 [GRCh37]
Chr2:2q24.3 |
likely benign |
| NM_001165963.4(SCN1A):c.5872G>A (p.Asp1958Asn) |
single nucleotide variant |
Early infantile epileptic encephalopathy with suppression bursts [RCV003812043] |
Chr2:165991403 [GRCh38]
Chr2:166847913 [GRCh37]
Chr2:2q24.3 |
uncertain significance |
| NM_001165963.4(SCN1A):c.2964G>A (p.Leu988=) |
single nucleotide variant |
Early infantile epileptic encephalopathy with suppression bursts [RCV003753741] |
Chr2:166036513 [GRCh38]
Chr2:166893023 [GRCh37]
Chr2:2q24.3 |
likely benign |
| NM_001165963.4(SCN1A):c.4002+2005G>A |
single nucleotide variant |
Early infantile epileptic encephalopathy with suppression bursts [RCV003856482] |
Chr2:166007714 [GRCh38]
Chr2:166864224 [GRCh37]
Chr2:2q24.3 |
likely benign |
| NM_001165963.4(SCN1A):c.4002+2342C>T |
single nucleotide variant |
Early infantile epileptic encephalopathy with suppression bursts [RCV003753468] |
Chr2:166007377 [GRCh38]
Chr2:166863887 [GRCh37]
Chr2:2q24.3 |
likely benign |
| NM_001165963.4(SCN1A):c.4002+2273T>C |
single nucleotide variant |
Early infantile epileptic encephalopathy with suppression bursts [RCV003753555] |
Chr2:166007446 [GRCh38]
Chr2:166863956 [GRCh37]
Chr2:2q24.3 |
likely benign |
| NM_001165963.4(SCN1A):c.267T>A (p.Thr89=) |
single nucleotide variant |
Early infantile epileptic encephalopathy with suppression bursts [RCV003753566] |
Chr2:166058686 [GRCh38]
Chr2:166915196 [GRCh37]
Chr2:2q24.3 |
likely benign |
| NM_001165963.4(SCN1A):c.1663-18G>A |
single nucleotide variant |
Early infantile epileptic encephalopathy with suppression bursts [RCV003753578] |
Chr2:166044067 [GRCh38]
Chr2:166900577 [GRCh37]
Chr2:2q24.3 |
likely benign |
| NM_001165963.4(SCN1A):c.5481del (p.Lys1827fs) |
deletion |
Early infantile epileptic encephalopathy with suppression bursts [RCV003753669] |
Chr2:165991794 [GRCh38]
Chr2:166848304 [GRCh37]
Chr2:2q24.3 |
pathogenic |
| NM_001165963.4(SCN1A):c.5032T>C (p.Phe1678Leu) |
single nucleotide variant |
Early infantile epileptic encephalopathy with suppression bursts [RCV003811766] |
Chr2:165992243 [GRCh38]
Chr2:166848753 [GRCh37]
Chr2:2q24.3 |
uncertain significance |
| NM_001165963.4(SCN1A):c.2344_2385del (p.Thr782_His795del) |
deletion |
Early infantile epileptic encephalopathy with suppression bursts [RCV003754096] |
Chr2:166041261..166041302 [GRCh38]
Chr2:166897771..166897812 [GRCh37]
Chr2:2q24.3 |
pathogenic |
| NM_001165963.4(SCN1A):c.3574T>G (p.Cys1192Gly) |
single nucleotide variant |
Early infantile epileptic encephalopathy with suppression bursts [RCV003754119] |
Chr2:166013875 [GRCh38]
Chr2:166870385 [GRCh37]
Chr2:2q24.3 |
uncertain significance |
| NM_001165963.4(SCN1A):c.1780G>A (p.Glu594Lys) |
single nucleotide variant |
Early infantile epileptic encephalopathy with suppression bursts [RCV003754144] |
Chr2:166043932 [GRCh38]
Chr2:166900442 [GRCh37]
Chr2:2q24.3 |
uncertain significance |
| NM_001165963.4(SCN1A):c.3352G>T (p.Ala1118Ser) |
single nucleotide variant |
Early infantile epileptic encephalopathy with suppression bursts [RCV003752602] |
Chr2:166036125 [GRCh38]
Chr2:166892635 [GRCh37]
Chr2:2q24.3 |
pathogenic |
| NM_001165963.4(SCN1A):c.4476+1A>C |
single nucleotide variant |
Early infantile epileptic encephalopathy with suppression bursts [RCV003752604] |
Chr2:165998037 [GRCh38]
Chr2:166854547 [GRCh37]
Chr2:2q24.3 |
pathogenic |
| NM_001165963.4(SCN1A):c.377T>G (p.Val126Gly) |
single nucleotide variant |
Early infantile epileptic encephalopathy with suppression bursts [RCV003752611] |
Chr2:166058576 [GRCh38]
Chr2:166915086 [GRCh37]
Chr2:2q24.3 |
uncertain significance |
| NM_001165963.4(SCN1A):c.4002+2095C>T |
single nucleotide variant |
Early infantile epileptic encephalopathy with suppression bursts [RCV003754014] |
Chr2:166007624 [GRCh38]
Chr2:166864134 [GRCh37]
Chr2:2q24.3 |
likely benign |
| NM_001165963.4(SCN1A):c.4002+2025T>G |
single nucleotide variant |
Early infantile epileptic encephalopathy with suppression bursts [RCV003754256] |
Chr2:166007694 [GRCh38]
Chr2:166864204 [GRCh37]
Chr2:2q24.3 |
likely benign |
| NM_001165963.4(SCN1A):c.1377+12C>T |
single nucleotide variant |
Early infantile epileptic encephalopathy with suppression bursts [RCV003849500] |
Chr2:166046758 [GRCh38]
Chr2:166903268 [GRCh37]
Chr2:2q24.3 |
likely benign |
| NM_001165963.4(SCN1A):c.239_243del (p.Leu80fs) |
deletion |
Early infantile epileptic encephalopathy with suppression bursts [RCV003752671] |
Chr2:166073379..166073383 [GRCh38]
Chr2:166929889..166929893 [GRCh37]
Chr2:2q24.3 |
pathogenic |
| NM_001165963.4(SCN1A):c.4002+2545T>C |
single nucleotide variant |
Early infantile epileptic encephalopathy with suppression bursts [RCV003752724] |
Chr2:166007174 [GRCh38]
Chr2:166863684 [GRCh37]
Chr2:2q24.3 |
likely benign |
| NM_001165963.4(SCN1A):c.964+4A>T |
single nucleotide variant |
Early infantile epileptic encephalopathy with suppression bursts [RCV003754297] |
Chr2:166051715 [GRCh38]
Chr2:166908225 [GRCh37]
Chr2:2q24.3 |
uncertain significance |
| NM_001165963.4(SCN1A):c.4002+2347T>C |
single nucleotide variant |
Early infantile epileptic encephalopathy with suppression bursts [RCV003817602] |
Chr2:166007372 [GRCh38]
Chr2:166863882 [GRCh37]
Chr2:2q24.3 |
likely benign |
| NM_001165963.4(SCN1A):c.2661G>C (p.Val887=) |
single nucleotide variant |
Early infantile epileptic encephalopathy with suppression bursts [RCV003817603] |
Chr2:166038061 [GRCh38]
Chr2:166894571 [GRCh37]
Chr2:2q24.3 |
likely benign |
| NM_001165963.4(SCN1A):c.3937A>T (p.Lys1313Ter) |
single nucleotide variant |
Early infantile epileptic encephalopathy with suppression bursts [RCV003754369] |
Chr2:166009784 [GRCh38]
Chr2:166866294 [GRCh37]
Chr2:2q24.3 |
pathogenic |
| NM_001165963.4(SCN1A):c.1081G>T (p.Gly361Cys) |
single nucleotide variant |
Early infantile epileptic encephalopathy with suppression bursts [RCV003754413] |
Chr2:166047716 [GRCh38]
Chr2:166904226 [GRCh37]
Chr2:2q24.3 |
pathogenic |
| NM_001165963.4(SCN1A):c.1695A>T (p.Ser565=) |
single nucleotide variant |
Early infantile epileptic encephalopathy with suppression bursts [RCV003753006] |
Chr2:166044017 [GRCh38]
Chr2:166900527 [GRCh37]
Chr2:2q24.3 |
likely benign |
| NM_001165963.4(SCN1A):c.4963G>T (p.Gly1655Trp) |
single nucleotide variant |
Early infantile epileptic encephalopathy with suppression bursts [RCV003754513] |
Chr2:165992312 [GRCh38]
Chr2:166848822 [GRCh37]
Chr2:2q24.3 |
likely pathogenic |
| NM_001165963.4(SCN1A):c.541G>A (p.Glu181Lys) |
single nucleotide variant |
Early infantile epileptic encephalopathy with suppression bursts [RCV003754578] |
Chr2:166054699 [GRCh38]
Chr2:166911209 [GRCh37]
Chr2:2q24.3 |
uncertain significance |
| NM_001165963.4(SCN1A):c.4002+1979G>A |
single nucleotide variant |
Early infantile epileptic encephalopathy with suppression bursts [RCV003816278] |
Chr2:166007740 [GRCh38]
Chr2:166864250 [GRCh37]
Chr2:2q24.3 |
likely benign |
| NM_001165963.4(SCN1A):c.1139C>T (p.Thr380Ile) |
single nucleotide variant |
Early infantile epileptic encephalopathy with suppression bursts [RCV003754732] |
Chr2:166047658 [GRCh38]
Chr2:166904168 [GRCh37]
Chr2:2q24.3 |
uncertain significance |
| NM_001165963.4(SCN1A):c.4474A>T (p.Lys1492Ter) |
single nucleotide variant |
Early infantile epileptic encephalopathy with suppression bursts [RCV003754771] |
Chr2:165998040 [GRCh38]
Chr2:166854550 [GRCh37]
Chr2:2q24.3 |
pathogenic |
| NM_001165963.4(SCN1A):c.5688C>T (p.Ser1896=) |
single nucleotide variant |
Early infantile epileptic encephalopathy with suppression bursts [RCV003754808] |
Chr2:165991587 [GRCh38]
Chr2:166848097 [GRCh37]
Chr2:2q24.3 |
likely benign |
| NM_001165963.4(SCN1A):c.518T>A (p.Ile173Asn) |
single nucleotide variant |
Early infantile epileptic encephalopathy with suppression bursts [RCV003754810] |
Chr2:166054722 [GRCh38]
Chr2:166911232 [GRCh37]
Chr2:2q24.3 |
pathogenic |
| NM_001165963.4(SCN1A):c.384-5C>A |
single nucleotide variant |
Early infantile epileptic encephalopathy with suppression bursts [RCV003754761] |
Chr2:166056505 [GRCh38]
Chr2:166913015 [GRCh37]
Chr2:2q24.3 |
likely benign |
| NM_001165963.4(SCN1A):c.4002+2537A>T |
single nucleotide variant |
Early infantile epileptic encephalopathy with suppression bursts [RCV003856472] |
Chr2:166007182 [GRCh38]
Chr2:166863692 [GRCh37]
Chr2:2q24.3 |
likely benign |
| NM_001165963.4(SCN1A):c.4002+2264T>C |
single nucleotide variant |
Early infantile epileptic encephalopathy with suppression bursts [RCV003753328] |
Chr2:166007455 [GRCh38]
Chr2:166863965 [GRCh37]
Chr2:2q24.3 |
likely benign |
| NM_001165963.4(SCN1A):c.4002+2588A>C |
single nucleotide variant |
Early infantile epileptic encephalopathy with suppression bursts [RCV003753393] |
Chr2:166007131 [GRCh38]
Chr2:166863641 [GRCh37]
Chr2:2q24.3 |
likely benign |
| NM_001165963.4(SCN1A):c.4382T>C (p.Leu1461Pro) |
single nucleotide variant |
Early infantile epileptic encephalopathy with suppression bursts [RCV003754162] |
Chr2:165998132 [GRCh38]
Chr2:166854642 [GRCh37]
Chr2:2q24.3 |
uncertain significance |
| NM_001165963.4(SCN1A):c.313A>T (p.Thr105Ser) |
single nucleotide variant |
Early infantile epileptic encephalopathy with suppression bursts [RCV003754682] |
Chr2:166058640 [GRCh38]
Chr2:166915150 [GRCh37]
Chr2:2q24.3 |
likely pathogenic |
| NM_001165963.4(SCN1A):c.4907G>T (p.Arg1636Leu) |
single nucleotide variant |
Early infantile epileptic encephalopathy with suppression bursts [RCV003754687] |
Chr2:165992368 [GRCh38]
Chr2:166848878 [GRCh37]
Chr2:2q24.3 |
likely pathogenic |
| NM_001165963.4(SCN1A):c.1171-4G>A |
single nucleotide variant |
Early infantile epileptic encephalopathy with suppression bursts [RCV003752910] |
Chr2:166046980 [GRCh38]
Chr2:166903490 [GRCh37]
Chr2:2q24.3 |
likely benign |
| NM_001165963.4(SCN1A):c.102A>G (p.Ala34=) |
single nucleotide variant |
Early infantile epileptic encephalopathy with suppression bursts [RCV003752912] |
Chr2:166073520 [GRCh38]
Chr2:166930030 [GRCh37]
Chr2:2q24.3 |
likely benign |
| NM_001165963.4(SCN1A):c.4002+2171C>A |
single nucleotide variant |
Early infantile epileptic encephalopathy with suppression bursts [RCV003754215] |
Chr2:166007548 [GRCh38]
Chr2:166864058 [GRCh37]
Chr2:2q24.3 |
likely benign |
| NM_001165963.4(SCN1A):c.4104G>A (p.Leu1368=) |
single nucleotide variant |
Early infantile epileptic encephalopathy with suppression bursts [RCV003754225] |
Chr2:166002652 [GRCh38]
Chr2:166859162 [GRCh37]
Chr2:2q24.3 |
likely benign |
| NM_001165963.4(SCN1A):c.4284+7G>T |
single nucleotide variant |
Early infantile epileptic encephalopathy with suppression bursts [RCV003752961] |
Chr2:166002465 [GRCh38]
Chr2:166858975 [GRCh37]
Chr2:2q24.3 |
likely benign |
| NM_001165963.4(SCN1A):c.5124G>A (p.Glu1708=) |
single nucleotide variant |
Early infantile epileptic encephalopathy with suppression bursts [RCV003752971] |
Chr2:165992151 [GRCh38]
Chr2:166848661 [GRCh37]
Chr2:2q24.3 |
likely benign |
| NM_001165963.4(SCN1A):c.1171-18T>A |
single nucleotide variant |
Early infantile epileptic encephalopathy with suppression bursts [RCV003753404] |
Chr2:166046994 [GRCh38]
Chr2:166903504 [GRCh37]
Chr2:2q24.3 |
likely benign |
| NM_001165963.4(SCN1A):c.4940T>C (p.Leu1647Pro) |
single nucleotide variant |
Early infantile epileptic encephalopathy with suppression bursts [RCV003754257] |
Chr2:165992335 [GRCh38]
Chr2:166848845 [GRCh37]
Chr2:2q24.3 |
uncertain significance |
| NM_001165963.4(SCN1A):c.3971T>C (p.Leu1324Pro) |
single nucleotide variant |
Early infantile epileptic encephalopathy with suppression bursts [RCV003754558] |
Chr2:166009750 [GRCh38]
Chr2:166866260 [GRCh37]
Chr2:2q24.3 |
pathogenic |
| NM_001165963.4(SCN1A):c.3684T>A (p.Ile1228=) |
single nucleotide variant |
Early infantile epileptic encephalopathy with suppression bursts [RCV003753012] |
Chr2:166013765 [GRCh38]
Chr2:166870275 [GRCh37]
Chr2:2q24.3 |
likely benign |
| NM_001165963.4(SCN1A):c.733AAG[1] (p.Lys246del) |
microsatellite |
Early infantile epileptic encephalopathy with suppression bursts [RCV003752918] |
Chr2:166051945..166051947 [GRCh38]
Chr2:166908455..166908457 [GRCh37]
Chr2:2q24.3 |
pathogenic |
| NM_001165963.4(SCN1A):c.984G>A (p.Glu328=) |
single nucleotide variant |
Early infantile epileptic encephalopathy with suppression bursts [RCV003753529] |
Chr2:166048930 [GRCh38]
Chr2:166905440 [GRCh37]
Chr2:2q24.3 |
likely benign |
| NM_001165963.4(SCN1A):c.1012A>T (p.Asn338Tyr) |
single nucleotide variant |
Early infantile epileptic encephalopathy with suppression bursts [RCV003754784] |
Chr2:166048902 [GRCh38]
Chr2:166905412 [GRCh37]
Chr2:2q24.3 |
uncertain significance |
| NM_001165963.4(SCN1A):c.2314C>T (p.Leu772=) |
single nucleotide variant |
Early infantile epileptic encephalopathy with suppression bursts [RCV003753073] |
Chr2:166041332 [GRCh38]
Chr2:166897842 [GRCh37]
Chr2:2q24.3 |
likely benign |
| NM_001165963.4(SCN1A):c.4582-14C>A |
single nucleotide variant |
Early infantile epileptic encephalopathy with suppression bursts [RCV003753562] |
Chr2:165994430 [GRCh38]
Chr2:166850940 [GRCh37]
Chr2:2q24.3 |
likely benign |
| NM_001165963.4(SCN1A):c.4938C>T (p.Ile1646=) |
single nucleotide variant |
Early infantile epileptic encephalopathy with suppression bursts [RCV003753443] |
Chr2:165992337 [GRCh38]
Chr2:166848847 [GRCh37]
Chr2:2q24.3 |
likely benign |
| NM_001165963.4(SCN1A):c.5072A>G (p.Asn1691Ser) |
single nucleotide variant |
Early infantile epileptic encephalopathy with suppression bursts [RCV003754330] |
Chr2:165992203 [GRCh38]
Chr2:166848713 [GRCh37]
Chr2:2q24.3 |
uncertain significance |
| NM_001165963.4(SCN1A):c.4002+2099G>T |
single nucleotide variant |
Early infantile epileptic encephalopathy with suppression bursts [RCV003754340] |
Chr2:166007620 [GRCh38]
Chr2:166864130 [GRCh37]
Chr2:2q24.3 |
likely benign |
| NM_001165963.4(SCN1A):c.4002+2261A>G |
single nucleotide variant |
Early infantile epileptic encephalopathy with suppression bursts [RCV003754250] |
Chr2:166007458 [GRCh38]
Chr2:166863968 [GRCh37]
Chr2:2q24.3 |
likely benign |
| NM_001165963.4(SCN1A):c.294C>A (p.Ala98=) |
single nucleotide variant |
Early infantile epileptic encephalopathy with suppression bursts [RCV003754254] |
Chr2:166058659 [GRCh38]
Chr2:166915169 [GRCh37]
Chr2:2q24.3 |
likely benign |
| NM_001165963.4(SCN1A):c.1828G>A (p.Val610Met) |
single nucleotide variant |
Early infantile epileptic encephalopathy with suppression bursts [RCV003753593] |
Chr2:166043884 [GRCh38]
Chr2:166900394 [GRCh37]
Chr2:2q24.3 |
uncertain significance |
| NM_001165963.4(SCN1A):c.3596G>A (p.Gly1199Asp) |
single nucleotide variant |
Early infantile epileptic encephalopathy with suppression bursts [RCV003753608] |
Chr2:166013853 [GRCh38]
Chr2:166870363 [GRCh37]
Chr2:2q24.3 |
uncertain significance |
| NM_001165963.4(SCN1A):c.1821C>T (p.Ser607=) |
single nucleotide variant |
Early infantile epileptic encephalopathy with suppression bursts [RCV003753611] |
Chr2:166043891 [GRCh38]
Chr2:166900401 [GRCh37]
Chr2:2q24.3 |
likely benign |
| NM_001165963.4(SCN1A):c.4833dup (p.Val1612fs) |
duplication |
Early infantile epileptic encephalopathy with suppression bursts [RCV003754353] |
Chr2:165994164..165994165 [GRCh38]
Chr2:166850674..166850675 [GRCh37]
Chr2:2q24.3 |
pathogenic |
| NM_001165963.4(SCN1A):c.4002+2276G>C |
single nucleotide variant |
Early infantile epileptic encephalopathy with suppression bursts [RCV003754750] |
Chr2:166007443 [GRCh38]
Chr2:166863953 [GRCh37]
Chr2:2q24.3 |
likely benign |
| NM_001165963.4(SCN1A):c.626T>G (p.Leu209Arg) |
single nucleotide variant |
Early infantile epileptic encephalopathy with suppression bursts [RCV003754372] |
Chr2:166052920 [GRCh38]
Chr2:166909430 [GRCh37]
Chr2:2q24.3 |
likely pathogenic |
| NM_001165963.4(SCN1A):c.1175T>G (p.Leu392Ter) |
single nucleotide variant |
Early infantile epileptic encephalopathy with suppression bursts [RCV003753358] |
Chr2:166046972 [GRCh38]
Chr2:166903482 [GRCh37]
Chr2:2q24.3 |
pathogenic |
| NM_001165963.4(SCN1A):c.1244T>C (p.Ile415Thr) |
single nucleotide variant |
Early infantile epileptic encephalopathy with suppression bursts [RCV003753670] |
Chr2:166046903 [GRCh38]
Chr2:166903413 [GRCh37]
Chr2:2q24.3 |
likely pathogenic |
| NM_001165963.4(SCN1A):c.1663-3_1663-2del |
deletion |
Early infantile epileptic encephalopathy with suppression bursts [RCV003754436] |
Chr2:166044051..166044052 [GRCh38]
Chr2:166900561..166900562 [GRCh37]
Chr2:2q24.3 |
likely pathogenic |
| NM_001165963.4(SCN1A):c.4002+2070A>G |
single nucleotide variant |
Early infantile epileptic encephalopathy with suppression bursts [RCV003754439] |
Chr2:166007649 [GRCh38]
Chr2:166864159 [GRCh37]
Chr2:2q24.3 |
likely benign |
| NM_001165963.4(SCN1A):c.4834G>T (p.Val1612Phe) |
single nucleotide variant |
Early infantile epileptic encephalopathy with suppression bursts [RCV003753385] |
Chr2:165994164 [GRCh38]
Chr2:166850674 [GRCh37]
Chr2:2q24.3 |
uncertain significance |
| NM_001165963.4(SCN1A):c.1663-4C>G |
single nucleotide variant |
Early infantile epileptic encephalopathy with suppression bursts [RCV003753650] |
Chr2:166044053 [GRCh38]
Chr2:166900563 [GRCh37]
Chr2:2q24.3 |
likely benign |
| NM_001165963.4(SCN1A):c.5513C>T (p.Pro1838Leu) |
single nucleotide variant |
Early infantile epileptic encephalopathy with suppression bursts [RCV003753707] |
Chr2:165991762 [GRCh38]
Chr2:166848272 [GRCh37]
Chr2:2q24.3 |
pathogenic |
| NM_001165963.4(SCN1A):c.1678del (p.Arg560fs) |
deletion |
Early infantile epileptic encephalopathy with suppression bursts [RCV003753709] |
Chr2:166044034 [GRCh38]
Chr2:166900544 [GRCh37]
Chr2:2q24.3 |
pathogenic |
| NM_001165963.4(SCN1A):c.539del (p.Cys179_Leu180insTer) |
deletion |
Early infantile epileptic encephalopathy with suppression bursts [RCV003753711] |
Chr2:166054701 [GRCh38]
Chr2:166911211 [GRCh37]
Chr2:2q24.3 |
pathogenic |
| NM_001165963.4(SCN1A):c.694+7G>A |
single nucleotide variant |
Early infantile epileptic encephalopathy with suppression bursts [RCV003754462] |
Chr2:166052845 [GRCh38]
Chr2:166909355 [GRCh37]
Chr2:2q24.3 |
likely benign |
| NM_001165963.4(SCN1A):c.2807A>G (p.Asp936Gly) |
single nucleotide variant |
Early infantile epileptic encephalopathy with suppression bursts [RCV003754481] |
Chr2:166037915 [GRCh38]
Chr2:166894425 [GRCh37]
Chr2:2q24.3 |
pathogenic |
| NM_001165963.4(SCN1A):c.1234T>C (p.Phe412Leu) |
single nucleotide variant |
Early infantile epileptic encephalopathy with suppression bursts [RCV003754483] |
Chr2:166046913 [GRCh38]
Chr2:166903423 [GRCh37]
Chr2:2q24.3 |
likely pathogenic |
| NM_001165963.4(SCN1A):c.2176+9C>A |
single nucleotide variant |
Early infantile epileptic encephalopathy with suppression bursts [RCV003839030] |
Chr2:166042283 [GRCh38]
Chr2:166898793 [GRCh37]
Chr2:2q24.3 |
likely benign |
| NM_001165963.4(SCN1A):c.329T>A (p.Ile110Asn) |
single nucleotide variant |
Early infantile epileptic encephalopathy with suppression bursts [RCV003753904] |
Chr2:166058624 [GRCh38]
Chr2:166915134 [GRCh37]
Chr2:2q24.3 |
uncertain significance |
| NM_001165963.4(SCN1A):c.4476+2T>C |
single nucleotide variant |
Early infantile epileptic encephalopathy with suppression bursts [RCV003754487] |
Chr2:165998036 [GRCh38]
Chr2:166854546 [GRCh37]
Chr2:2q24.3 |
pathogenic |
| NM_001165963.4(SCN1A):c.264+3G>A |
single nucleotide variant |
Early infantile epileptic encephalopathy with suppression bursts [RCV003839999] |
Chr2:166073355 [GRCh38]
Chr2:166929865 [GRCh37]
Chr2:2q24.3 |
uncertain significance |
| NM_001165963.4(SCN1A):c.1919del (p.Lys640fs) |
deletion |
Early infantile epileptic encephalopathy with suppression bursts [RCV003754525] |
Chr2:166043793 [GRCh38]
Chr2:166900303 [GRCh37]
Chr2:2q24.3 |
pathogenic |
| NM_001165963.4(SCN1A):c.4338+5G>T |
single nucleotide variant |
Early infantile epileptic encephalopathy with suppression bursts [RCV003754384] |
Chr2:165999718 [GRCh38]
Chr2:166856228 [GRCh37]
Chr2:2q24.3 |
pathogenic |
| NM_001165963.4(SCN1A):c.4002+2649del |
deletion |
Early infantile epileptic encephalopathy with suppression bursts [RCV003817082] |
Chr2:166007070 [GRCh38]
Chr2:166863580 [GRCh37]
Chr2:2q24.3 |
likely benign |
| NM_001165963.4(SCN1A):c.3791T>C (p.Ile1264Thr) |
single nucleotide variant |
Early infantile epileptic encephalopathy with suppression bursts [RCV003752614] |
Chr2:166012197 [GRCh38]
Chr2:166868707 [GRCh37]
Chr2:2q24.3 |
uncertain significance |
| NM_001165963.4(SCN1A):c.5261G>C (p.Gly1754Ala) |
single nucleotide variant |
Early infantile epileptic encephalopathy with suppression bursts [RCV003752628] |
Chr2:165992014 [GRCh38]
Chr2:166848524 [GRCh37]
Chr2:2q24.3 |
pathogenic |
| NM_001165963.4(SCN1A):c.4263G>C (p.Gly1421=) |
single nucleotide variant |
Early infantile epileptic encephalopathy with suppression bursts [RCV003752651] |
Chr2:166002493 [GRCh38]
Chr2:166859003 [GRCh37]
Chr2:2q24.3 |
likely benign |
| NM_001165963.4(SCN1A):c.1908A>G (p.Pro636=) |
single nucleotide variant |
Early infantile epileptic encephalopathy with suppression bursts [RCV003752681] |
Chr2:166043804 [GRCh38]
Chr2:166900314 [GRCh37]
Chr2:2q24.3 |
likely benign |
| NM_001165963.4(SCN1A):c.1110G>T (p.Trp370Cys) |
single nucleotide variant |
Early infantile epileptic encephalopathy with suppression bursts [RCV003752622] |
Chr2:166047687 [GRCh38]
Chr2:166904197 [GRCh37]
Chr2:2q24.3 |
uncertain significance |
| NM_001165963.4(SCN1A):c.4232T>C (p.Val1411Ala) |
single nucleotide variant |
Early infantile epileptic encephalopathy with suppression bursts [RCV003752727] |
Chr2:166002524 [GRCh38]
Chr2:166859034 [GRCh37]
Chr2:2q24.3 |
uncertain significance |
| NM_001165963.4(SCN1A):c.2437G>A (p.Ala813Thr) |
single nucleotide variant |
Early infantile epileptic encephalopathy with suppression bursts [RCV003753804] |
Chr2:166039575 [GRCh38]
Chr2:166896085 [GRCh37]
Chr2:2q24.3 |
uncertain significance |
| NM_001165963.4(SCN1A):c.2899A>G (p.Met967Val) |
single nucleotide variant |
Early infantile epileptic encephalopathy with suppression bursts [RCV003754382] |
Chr2:166037823 [GRCh38]
Chr2:166894333 [GRCh37]
Chr2:2q24.3 |
uncertain significance |
| NM_001165963.4(SCN1A):c.2366A>T (p.His789Leu) |
single nucleotide variant |
Early infantile epileptic encephalopathy with suppression bursts [RCV003754494] |
Chr2:166041280 [GRCh38]
Chr2:166897790 [GRCh37]
Chr2:2q24.3 |
uncertain significance |
| NM_001165963.4(SCN1A):c.5933C>T (p.Ser1978Phe) |
single nucleotide variant |
Early infantile epileptic encephalopathy with suppression bursts [RCV003754861] |
Chr2:165991342 [GRCh38]
Chr2:166847852 [GRCh37]
Chr2:2q24.3 |
uncertain significance |
| NM_001165963.4(SCN1A):c.3337G>A (p.Val1113Met) |
single nucleotide variant |
Early infantile epileptic encephalopathy with suppression bursts [RCV003811061] |
Chr2:166036140 [GRCh38]
Chr2:166892650 [GRCh37]
Chr2:2q24.3 |
uncertain significance |
| NM_001165963.4(SCN1A):c.5455G>A (p.Ala1819Thr) |
single nucleotide variant |
Early infantile epileptic encephalopathy with suppression bursts [RCV003752643] |
Chr2:165991820 [GRCh38]
Chr2:166848330 [GRCh37]
Chr2:2q24.3 |
uncertain significance |
| NM_001165963.4(SCN1A):c.2590-1G>T |
single nucleotide variant |
Early infantile epileptic encephalopathy with suppression bursts [RCV003752690] |
Chr2:166038133 [GRCh38]
Chr2:166894643 [GRCh37]
Chr2:2q24.3 |
pathogenic |
| NM_001165963.4(SCN1A):c.1378-12_1378-8del |
deletion |
Early infantile epileptic encephalopathy with suppression bursts [RCV003752684] |
Chr2:166045335..166045339 [GRCh38]
Chr2:166901845..166901849 [GRCh37]
Chr2:2q24.3 |
uncertain significance |
| NM_001165963.4(SCN1A):c.5913A>G (p.Glu1971=) |
single nucleotide variant |
Early infantile epileptic encephalopathy with suppression bursts [RCV003752834] |
Chr2:165991362 [GRCh38]
Chr2:166847872 [GRCh37]
Chr2:2q24.3 |
likely benign |
| NM_001165963.4(SCN1A):c.4002+20C>T |
single nucleotide variant |
Early infantile epileptic encephalopathy with suppression bursts [RCV003753824] |
Chr2:166009699 [GRCh38]
Chr2:166866209 [GRCh37]
Chr2:2q24.3 |
likely benign |
| NM_001165963.4(SCN1A):c.237C>G (p.Asp79Glu) |
single nucleotide variant |
Early infantile epileptic encephalopathy with suppression bursts [RCV003753834] |
Chr2:166073385 [GRCh38]
Chr2:166929895 [GRCh37]
Chr2:2q24.3 |
likely pathogenic |
| NM_001165963.4(SCN1A):c.3429+20G>A |
single nucleotide variant |
Early infantile epileptic encephalopathy with suppression bursts [RCV003753836] |
Chr2:166036028 [GRCh38]
Chr2:166892538 [GRCh37]
Chr2:2q24.3 |
likely benign |
| NM_001165963.4(SCN1A):c.1663-1G>A |
single nucleotide variant |
Early infantile epileptic encephalopathy with suppression bursts [RCV003754065] |
Chr2:166044050 [GRCh38]
Chr2:166900560 [GRCh37]
Chr2:2q24.3 |
pathogenic |
| NM_001165963.4(SCN1A):c.2167_2176+13dup |
duplication |
Early infantile epileptic encephalopathy with suppression bursts [RCV003752745] |
Chr2:166042278..166042279 [GRCh38]
Chr2:166898788..166898789 [GRCh37]
Chr2:2q24.3 |
uncertain significance |
| NM_001165963.4(SCN1A):c.4002+2538T>C |
single nucleotide variant |
Early infantile epileptic encephalopathy with suppression bursts [RCV003752860] |
Chr2:166007181 [GRCh38]
Chr2:166863691 [GRCh37]
Chr2:2q24.3 |
likely benign |
| NM_001165963.4(SCN1A):c.603G>A (p.Ala201=) |
single nucleotide variant |
Early infantile epileptic encephalopathy with suppression bursts [RCV003752919] |
Chr2:166052943 [GRCh38]
Chr2:166909453 [GRCh37]
Chr2:2q24.3 |
uncertain significance |
| NM_001165963.4(SCN1A):c.1377+20_1377+21delinsAT |
indel |
Early infantile epileptic encephalopathy with suppression bursts [RCV003753846] |
Chr2:166046749..166046750 [GRCh38]
Chr2:166903259..166903260 [GRCh37]
Chr2:2q24.3 |
uncertain significance |
| NM_001165963.4(SCN1A):c.4002+2510del |
deletion |
Early infantile epileptic encephalopathy with suppression bursts [RCV003754077] |
Chr2:166007209 [GRCh38]
Chr2:166863719 [GRCh37]
Chr2:2q24.3 |
likely benign |
| NM_001165963.4(SCN1A):c.5994G>A (p.Glu1998=) |
single nucleotide variant |
Early infantile epileptic encephalopathy with suppression bursts [RCV003754626] |
Chr2:165991281 [GRCh38]
Chr2:166847791 [GRCh37]
Chr2:2q24.3 |
likely benign |
| NM_001165963.4(SCN1A):c.5435G>T (p.Trp1812Leu) |
single nucleotide variant |
Early infantile epileptic encephalopathy with suppression bursts [RCV003752662] |
Chr2:165991840 [GRCh38]
Chr2:166848350 [GRCh37]
Chr2:2q24.3 |
likely pathogenic |
| NM_001165963.4(SCN1A):c.4002+2509G>A |
single nucleotide variant |
Early infantile epileptic encephalopathy with suppression bursts [RCV003754573] |
Chr2:166007210 [GRCh38]
Chr2:166863720 [GRCh37]
Chr2:2q24.3 |
likely benign |
| NM_001165963.4(SCN1A):c.2203C>G (p.Pro735Ala) |
single nucleotide variant |
Early infantile epileptic encephalopathy with suppression bursts [RCV003754646] |
Chr2:166041443 [GRCh38]
Chr2:166897953 [GRCh37]
Chr2:2q24.3 |
uncertain significance |
| NM_001165963.4(SCN1A):c.5554A>G (p.Met1852Val) |
single nucleotide variant |
Early infantile epileptic encephalopathy with suppression bursts [RCV003754571] |
Chr2:165991721 [GRCh38]
Chr2:166848231 [GRCh37]
Chr2:2q24.3 |
likely pathogenic |
| NM_001165963.4(SCN1A):c.4634T>C (p.Ile1545Thr) |
single nucleotide variant |
Early infantile epileptic encephalopathy with suppression bursts [RCV003754655] |
Chr2:165994364 [GRCh38]
Chr2:166850874 [GRCh37]
Chr2:2q24.3 |
likely pathogenic |
| NM_001165963.4(SCN1A):c.1389G>T (p.Thr463=) |
single nucleotide variant |
Early infantile epileptic encephalopathy with suppression bursts [RCV003752833] |
Chr2:166045316 [GRCh38]
Chr2:166901826 [GRCh37]
Chr2:2q24.3 |
likely benign |
| NM_001165963.4(SCN1A):c.5704T>C (p.Ser1902Pro) |
single nucleotide variant |
Early infantile epileptic encephalopathy with suppression bursts [RCV003753048] |
Chr2:165991571 [GRCh38]
Chr2:166848081 [GRCh37]
Chr2:2q24.3 |
uncertain significance |
| NM_001165963.4(SCN1A):c.1573T>C (p.Ser525Pro) |
single nucleotide variant |
Early infantile epileptic encephalopathy with suppression bursts [RCV003753051] |
Chr2:166045132 [GRCh38]
Chr2:166901642 [GRCh37]
Chr2:2q24.3 |
uncertain significance |
| NM_001165963.4(SCN1A):c.4437T>G (p.Ile1479Met) |
single nucleotide variant |
Early infantile epileptic encephalopathy with suppression bursts [RCV003754160] |
Chr2:165998077 [GRCh38]
Chr2:166854587 [GRCh37]
Chr2:2q24.3 |
uncertain significance |
| NM_001165963.4(SCN1A):c.11C>T (p.Thr4Ile) |
single nucleotide variant |
Early infantile epileptic encephalopathy with suppression bursts [RCV003753809] |
Chr2:166073611 [GRCh38]
Chr2:166930121 [GRCh37]
Chr2:2q24.3 |
uncertain significance |
| NM_001165963.4(SCN1A):c.695G>A (p.Gly232Asp) |
single nucleotide variant |
Early infantile epileptic encephalopathy with suppression bursts [RCV003753079] |
Chr2:166051988 [GRCh38]
Chr2:166908498 [GRCh37]
Chr2:2q24.3 |
uncertain significance |
| NM_001165963.4(SCN1A):c.760_763dup (p.Val255fs) |
duplication |
Early infantile epileptic encephalopathy with suppression bursts [RCV003754638] |
Chr2:166051919..166051920 [GRCh38]
Chr2:166908429..166908430 [GRCh37]
Chr2:2q24.3 |
pathogenic |
| NM_001165963.4(SCN1A):c.4514A>T (p.Lys1505Met) |
single nucleotide variant |
Early infantile epileptic encephalopathy with suppression bursts [RCV003754572] |
Chr2:165996080 [GRCh38]
Chr2:166852590 [GRCh37]
Chr2:2q24.3 |
uncertain significance |
| NM_001165963.4(SCN1A):c.1206T>A (p.Phe402Leu) |
single nucleotide variant |
Early infantile epileptic encephalopathy with suppression bursts [RCV003754649] |
Chr2:166046941 [GRCh38]
Chr2:166903451 [GRCh37]
Chr2:2q24.3 |
uncertain significance |
| NM_001165963.4(SCN1A):c.2011G>T (p.Val671Leu) |
single nucleotide variant |
Early infantile epileptic encephalopathy with suppression bursts [RCV003754656] |
Chr2:166043701 [GRCh38]
Chr2:166900211 [GRCh37]
Chr2:2q24.3 |
uncertain significance |
| NM_001165963.4(SCN1A):c.4590T>G (p.Phe1530Leu) |
single nucleotide variant |
Early infantile epileptic encephalopathy with suppression bursts [RCV003754843] |
Chr2:165994408 [GRCh38]
Chr2:166850918 [GRCh37]
Chr2:2q24.3 |
uncertain significance |
| NM_001165963.4(SCN1A):c.3572G>A (p.Cys1191Tyr) |
single nucleotide variant |
Early infantile epileptic encephalopathy with suppression bursts [RCV003753828] |
Chr2:166013877 [GRCh38]
Chr2:166870387 [GRCh37]
Chr2:2q24.3 |
uncertain significance |
| NM_001165963.4(SCN1A):c.2903G>C (p.Cys968Ser) |
single nucleotide variant |
Early infantile epileptic encephalopathy with suppression bursts [RCV003754370] |
Chr2:166037819 [GRCh38]
Chr2:166894329 [GRCh37]
Chr2:2q24.3 |
likely pathogenic |
| NM_001165963.4(SCN1A):c.4767A>C (p.Val1589=) |
single nucleotide variant |
Early infantile epileptic encephalopathy with suppression bursts [RCV003754371] |
Chr2:165994231 [GRCh38]
Chr2:166850741 [GRCh37]
Chr2:2q24.3 |
likely benign |
| NM_001165963.4(SCN1A):c.708del (p.Ile236fs) |
deletion |
Early infantile epileptic encephalopathy with suppression bursts [RCV003754410] |
Chr2:166051975 [GRCh38]
Chr2:166908485 [GRCh37]
Chr2:2q24.3 |
pathogenic |
| NM_001165963.4(SCN1A):c.2608G>A (p.Ala870Thr) |
single nucleotide variant |
Early infantile epileptic encephalopathy with suppression bursts [RCV003754665] |
Chr2:166038114 [GRCh38]
Chr2:166894624 [GRCh37]
Chr2:2q24.3 |
uncertain significance |
| NM_001165963.4(SCN1A):c.4002+2576T>C |
single nucleotide variant |
Early infantile epileptic encephalopathy with suppression bursts [RCV003810733] |
Chr2:166007143 [GRCh38]
Chr2:166863653 [GRCh37]
Chr2:2q24.3 |
likely benign |
| NM_001165963.4(SCN1A):c.4002+2356del |
deletion |
Early infantile epileptic encephalopathy with suppression bursts [RCV003836921] |
Chr2:166007363 [GRCh38]
Chr2:166863873 [GRCh37]
Chr2:2q24.3 |
uncertain significance |
| NM_001165963.4(SCN1A):c.4002+2450G>A |
single nucleotide variant |
Early infantile epileptic encephalopathy with suppression bursts [RCV003754418] |
Chr2:166007269 [GRCh38]
Chr2:166863779 [GRCh37]
Chr2:2q24.3 |
likely benign |
| NM_001165963.4(SCN1A):c.5412C>A (p.Asp1804Glu) |
single nucleotide variant |
Early infantile epileptic encephalopathy with suppression bursts [RCV003754438] |
Chr2:165991863 [GRCh38]
Chr2:166848373 [GRCh37]
Chr2:2q24.3 |
uncertain significance |
| NM_001165963.4(SCN1A):c.1177C>G (p.Arg393Gly) |
single nucleotide variant |
Early infantile epileptic encephalopathy with suppression bursts [RCV003754688] |
Chr2:166046970 [GRCh38]
Chr2:166903480 [GRCh37]
Chr2:2q24.3 |
likely pathogenic |
| NM_001165963.4(SCN1A):c.2168C>T (p.Thr723Ile) |
single nucleotide variant |
Early infantile epileptic encephalopathy with suppression bursts [RCV003753420] |
Chr2:166042300 [GRCh38]
Chr2:166898810 [GRCh37]
Chr2:2q24.3 |
uncertain significance |
| NM_001165963.4(SCN1A):c.2947-12del |
deletion |
Early infantile epileptic encephalopathy with suppression bursts [RCV003752632] |
Chr2:166036542 [GRCh38]
Chr2:166893052 [GRCh37]
Chr2:2q24.3 |
likely benign |
| NM_001165963.4(SCN1A):c.4901T>G (p.Leu1634Arg) |
single nucleotide variant |
Early infantile epileptic encephalopathy with suppression bursts [RCV003754449] |
Chr2:165992374 [GRCh38]
Chr2:166848884 [GRCh37]
Chr2:2q24.3 |
uncertain significance |
| NM_001165963.4(SCN1A):c.3110C>A (p.Ser1037Tyr) |
single nucleotide variant |
Early infantile epileptic encephalopathy with suppression bursts [RCV003754723] |
Chr2:166036367 [GRCh38]
Chr2:166892877 [GRCh37]
Chr2:2q24.3 |
uncertain significance |
| NM_001165963.4(SCN1A):c.4002+2467C>T |
single nucleotide variant |
Early infantile epileptic encephalopathy with suppression bursts [RCV003754725] |
Chr2:166007252 [GRCh38]
Chr2:166863762 [GRCh37]
Chr2:2q24.3 |
likely benign |
| NM_001165963.4(SCN1A):c.4002+2407A>C |
single nucleotide variant |
Early infantile epileptic encephalopathy with suppression bursts [RCV003852488] |
Chr2:166007312 [GRCh38]
Chr2:166863822 [GRCh37]
Chr2:2q24.3 |
likely benign |
| NM_001165963.4(SCN1A):c.1536G>A (p.Gly512=) |
single nucleotide variant |
Early infantile epileptic encephalopathy with suppression bursts [RCV003753942] |
Chr2:166045169 [GRCh38]
Chr2:166901679 [GRCh37]
Chr2:2q24.3 |
likely benign |
| NM_001165963.4(SCN1A):c.4002+2130T>C |
single nucleotide variant |
Early infantile epileptic encephalopathy with suppression bursts [RCV003753957] |
Chr2:166007589 [GRCh38]
Chr2:166864099 [GRCh37]
Chr2:2q24.3 |
likely benign |
| NM_001165963.4(SCN1A):c.650C>T (p.Thr217Ile) |
single nucleotide variant |
Early infantile epileptic encephalopathy with suppression bursts [RCV003753352] |
Chr2:166052896 [GRCh38]
Chr2:166909406 [GRCh37]
Chr2:2q24.3 |
likely pathogenic |
| NM_001165963.4(SCN1A):c.4002+2364C>T |
single nucleotide variant |
Early infantile epileptic encephalopathy with suppression bursts [RCV003754561] |
Chr2:166007355 [GRCh38]
Chr2:166863865 [GRCh37]
Chr2:2q24.3 |
likely benign |
| NM_001165963.4(SCN1A):c.4196T>C (p.Leu1399Pro) |
single nucleotide variant |
Early infantile epileptic encephalopathy with suppression bursts [RCV003754560] |
Chr2:166002560 [GRCh38]
Chr2:166859070 [GRCh37]
Chr2:2q24.3 |
pathogenic |
| NM_001165963.4(SCN1A):c.5448T>A (p.Asp1816Glu) |
single nucleotide variant |
Early infantile epileptic encephalopathy with suppression bursts [RCV003754652] |
Chr2:165991827 [GRCh38]
Chr2:166848337 [GRCh37]
Chr2:2q24.3 |
uncertain significance |
| NM_001165963.4(SCN1A):c.1501A>C (p.Arg501=) |
single nucleotide variant |
Early infantile epileptic encephalopathy with suppression bursts [RCV003753580] |
Chr2:166045204 [GRCh38]
Chr2:166901714 [GRCh37]
Chr2:2q24.3 |
benign |
| NM_001165963.4(SCN1A):c.4557del (p.Gln1520fs) |
deletion |
Early infantile epileptic encephalopathy with suppression bursts [RCV003752613] |
Chr2:165996037 [GRCh38]
Chr2:166852547 [GRCh37]
Chr2:2q24.3 |
pathogenic |
| NM_001165963.4(SCN1A):c.2590-3_2601del |
deletion |
Early infantile epileptic encephalopathy with suppression bursts [RCV003752615] |
Chr2:166038121..166038135 [GRCh38]
Chr2:166894631..166894645 [GRCh37]
Chr2:2q24.3 |
likely pathogenic |
| NM_001165963.4(SCN1A):c.4285-12C>T |
single nucleotide variant |
Early infantile epileptic encephalopathy with suppression bursts [RCV003752816] |
Chr2:165999788 [GRCh38]
Chr2:166856298 [GRCh37]
Chr2:2q24.3 |
likely benign |
| NM_001165963.4(SCN1A):c.1852C>A (p.Arg618Ser) |
single nucleotide variant |
Early infantile epileptic encephalopathy with suppression bursts [RCV003753978] |
Chr2:166043860 [GRCh38]
Chr2:166900370 [GRCh37]
Chr2:2q24.3 |
uncertain significance |
| NM_001165963.4(SCN1A):c.4002+2289C>A |
single nucleotide variant |
Early infantile epileptic encephalopathy with suppression bursts [RCV003753993] |
Chr2:166007430 [GRCh38]
Chr2:166863940 [GRCh37]
Chr2:2q24.3 |
likely benign |
| NM_001165963.4(SCN1A):c.4803C>A (p.Thr1601=) |
single nucleotide variant |
Early infantile epileptic encephalopathy with suppression bursts [RCV003753999] |
Chr2:165994195 [GRCh38]
Chr2:166850705 [GRCh37]
Chr2:2q24.3 |
likely benign |
| NM_001165963.4(SCN1A):c.4915C>T (p.Arg1639Cys) |
single nucleotide variant |
Early infantile epileptic encephalopathy with suppression bursts [RCV003753913] |
Chr2:165992360 [GRCh38]
Chr2:166848870 [GRCh37]
Chr2:2q24.3 |
likely pathogenic |
| NM_001165963.4(SCN1A):c.5321T>C (p.Phe1774Ser) |
single nucleotide variant |
Early infantile epileptic encephalopathy with suppression bursts [RCV003753708] |
Chr2:165991954 [GRCh38]
Chr2:166848464 [GRCh37]
Chr2:2q24.3 |
pathogenic |
| NM_001165963.4(SCN1A):c.1048_1049dup (p.Met350fs) |
microsatellite |
Early infantile epileptic encephalopathy with suppression bursts [RCV003752658] |
Chr2:166047747..166047748 [GRCh38]
Chr2:166904257..166904258 [GRCh37]
Chr2:2q24.3 |
pathogenic |
| NM_001165963.4(SCN1A):c.2437del (p.Ala813fs) |
deletion |
Early infantile epileptic encephalopathy with suppression bursts [RCV003752680] |
Chr2:166039575 [GRCh38]
Chr2:166896085 [GRCh37]
Chr2:2q24.3 |
pathogenic |
| NM_001165963.4(SCN1A):c.3550+18A>G |
single nucleotide variant |
Early infantile epileptic encephalopathy with suppression bursts [RCV003752924] |
Chr2:166015589 [GRCh38]
Chr2:166872099 [GRCh37]
Chr2:2q24.3 |
likely benign |
| NM_001165963.4(SCN1A):c.4930G>A (p.Gly1644Ser) |
single nucleotide variant |
Early infantile epileptic encephalopathy with suppression bursts [RCV003754052] |
Chr2:165992345 [GRCh38]
Chr2:166848855 [GRCh37]
Chr2:2q24.3 |
uncertain significance |
| NM_001165963.4(SCN1A):c.4002+2358T>C |
single nucleotide variant |
Early infantile epileptic encephalopathy with suppression bursts [RCV003754063] |
Chr2:166007361 [GRCh38]
Chr2:166863871 [GRCh37]
Chr2:2q24.3 |
likely benign |
| NM_001165963.4(SCN1A):c.574T>C (p.Trp192Arg) |
single nucleotide variant |
Early infantile epileptic encephalopathy with suppression bursts [RCV003753492] |
Chr2:166054666 [GRCh38]
Chr2:166911176 [GRCh37]
Chr2:2q24.3 |
uncertain significance |
| NM_001165963.4(SCN1A):c.312C>T (p.Ala104=) |
single nucleotide variant |
Early infantile epileptic encephalopathy with suppression bursts [RCV003753628] |
Chr2:166058641 [GRCh38]
Chr2:166915151 [GRCh37]
Chr2:2q24.3 |
likely benign |
| NM_001165963.4(SCN1A):c.2416-17T>C |
single nucleotide variant |
Early infantile epileptic encephalopathy with suppression bursts [RCV003753654] |
Chr2:166039613 [GRCh38]
Chr2:166896123 [GRCh37]
Chr2:2q24.3 |
likely benign |
| NM_001165963.4(SCN1A):c.1244T>A (p.Ile415Lys) |
single nucleotide variant |
Early infantile epileptic encephalopathy with suppression bursts [RCV003753710] |
Chr2:166046903 [GRCh38]
Chr2:166903413 [GRCh37]
Chr2:2q24.3 |
pathogenic |
| NM_001165963.4(SCN1A):c.3692G>A (p.Ser1231Asn) |
single nucleotide variant |
Early infantile epileptic encephalopathy with suppression bursts [RCV003835535] |
Chr2:166013757 [GRCh38]
Chr2:166870267 [GRCh37]
Chr2:2q24.3 |
likely pathogenic |
| NM_001165963.4(SCN1A):c.4620A>T (p.Arg1540Ser) |
single nucleotide variant |
Early infantile epileptic encephalopathy with suppression bursts [RCV003754152] |
Chr2:165994378 [GRCh38]
Chr2:166850888 [GRCh37]
Chr2:2q24.3 |
uncertain significance |
| NM_001165963.4(SCN1A):c.5013dup (p.Asn1672Ter) |
duplication |
Early infantile epileptic encephalopathy with suppression bursts [RCV003752698] |
Chr2:165992261..165992262 [GRCh38]
Chr2:166848771..166848772 [GRCh37]
Chr2:2q24.3 |
pathogenic |
| NM_001165963.4(SCN1A):c.4002+2109T>C |
single nucleotide variant |
Early infantile epileptic encephalopathy with suppression bursts [RCV003752766] |
Chr2:166007610 [GRCh38]
Chr2:166864120 [GRCh37]
Chr2:2q24.3 |
likely benign |
| NM_001165963.4(SCN1A):c.2524C>T (p.Leu842Phe) |
single nucleotide variant |
Early infantile epileptic encephalopathy with suppression bursts [RCV003752791] |
Chr2:166039488 [GRCh38]
Chr2:166895998 [GRCh37]
Chr2:2q24.3 |
likely pathogenic |
| NM_001165963.4(SCN1A):c.3043G>A (p.Ala1015Thr) |
single nucleotide variant |
Early infantile epileptic encephalopathy with suppression bursts [RCV003754115] |
Chr2:166036434 [GRCh38]
Chr2:166892944 [GRCh37]
Chr2:2q24.3 |
uncertain significance |
| NM_001165963.4(SCN1A):c.4255G>C (p.Gly1419Arg) |
single nucleotide variant |
Early infantile epileptic encephalopathy with suppression bursts [RCV003754473] |
Chr2:166002501 [GRCh38]
Chr2:166859011 [GRCh37]
Chr2:2q24.3 |
likely pathogenic |
| NM_001165963.4(SCN1A):c.2923_2931del (p.Val975_Val977del) |
deletion |
Early infantile epileptic encephalopathy with suppression bursts [RCV003754176] |
Chr2:166037791..166037799 [GRCh38]
Chr2:166894301..166894309 [GRCh37]
Chr2:2q24.3 |
pathogenic |
| NM_001165963.4(SCN1A):c.4002+2565G>A |
single nucleotide variant |
Early infantile epileptic encephalopathy with suppression bursts [RCV003754180] |
Chr2:166007154 [GRCh38]
Chr2:166863664 [GRCh37]
Chr2:2q24.3 |
likely benign |
| NM_001165963.4(SCN1A):c.3643G>A (p.Val1215Ile) |
single nucleotide variant |
Early infantile epileptic encephalopathy with suppression bursts [RCV003754186] |
Chr2:166013806 [GRCh38]
Chr2:166870316 [GRCh37]
Chr2:2q24.3 |
likely pathogenic |
| NM_001165963.4(SCN1A):c.4002+2421T>C |
single nucleotide variant |
Early infantile epileptic encephalopathy with suppression bursts [RCV003754201] |
Chr2:166007298 [GRCh38]
Chr2:166863808 [GRCh37]
Chr2:2q24.3 |
likely benign |
| NM_001165963.4(SCN1A):c.2976G>A (p.Leu992=) |
single nucleotide variant |
Early infantile epileptic encephalopathy with suppression bursts [RCV003754211] |
Chr2:166036501 [GRCh38]
Chr2:166893011 [GRCh37]
Chr2:2q24.3 |
likely benign |
| NM_001165963.4(SCN1A):c.3075T>A (p.Tyr1025Ter) |
single nucleotide variant |
Early infantile epileptic encephalopathy with suppression bursts [RCV003754231] |
Chr2:166036402 [GRCh38]
Chr2:166892912 [GRCh37]
Chr2:2q24.3 |
pathogenic |
| NM_001165963.4(SCN1A):c.1986G>C (p.Ser662=) |
single nucleotide variant |
Early infantile epileptic encephalopathy with suppression bursts [RCV003752809] |
Chr2:166043726 [GRCh38]
Chr2:166900236 [GRCh37]
Chr2:2q24.3 |
likely benign |
| NM_001165963.4(SCN1A):c.5249G>A (p.Ser1750Asn) |
single nucleotide variant |
Early infantile epileptic encephalopathy with suppression bursts [RCV003752815] |
Chr2:165992026 [GRCh38]
Chr2:166848536 [GRCh37]
Chr2:2q24.3 |
uncertain significance |
| NM_001165963.4(SCN1A):c.1509A>G (p.Lys503=) |
single nucleotide variant |
Early infantile epileptic encephalopathy with suppression bursts [RCV003752837] |
Chr2:166045196 [GRCh38]
Chr2:166901706 [GRCh37]
Chr2:2q24.3 |
benign |
| NM_001165963.4(SCN1A):c.6003C>T (p.Gly2001=) |
single nucleotide variant |
Early infantile epileptic encephalopathy with suppression bursts [RCV003752851] |
Chr2:165991272 [GRCh38]
Chr2:166847782 [GRCh37]
Chr2:2q24.3 |
likely benign |
| NM_001165963.4(SCN1A):c.4039A>G (p.Ile1347Val) |
single nucleotide variant |
Early infantile epileptic encephalopathy with suppression bursts [RCV003753307] |
Chr2:166002717 [GRCh38]
Chr2:166859227 [GRCh37]
Chr2:2q24.3 |
likely pathogenic |
| NM_001165963.4(SCN1A):c.2137G>A (p.Ala713Thr) |
single nucleotide variant |
Early infantile epileptic encephalopathy with suppression bursts [RCV003753326] |
Chr2:166042331 [GRCh38]
Chr2:166898841 [GRCh37]
Chr2:2q24.3 |
uncertain significance |
| NM_001165963.4(SCN1A):c.4622A>G (p.Gln1541Arg) |
single nucleotide variant |
Early infantile epileptic encephalopathy with suppression bursts [RCV003754131] |
Chr2:165994376 [GRCh38]
Chr2:166850886 [GRCh37]
Chr2:2q24.3 |
uncertain significance |
| NM_001165963.4(SCN1A):c.1120T>C (p.Ser374Pro) |
single nucleotide variant |
Early infantile epileptic encephalopathy with suppression bursts [RCV003754132] |
Chr2:166047677 [GRCh38]
Chr2:166904187 [GRCh37]
Chr2:2q24.3 |
likely pathogenic |
| NM_001165963.4(SCN1A):c.5599A>G (p.Ile1867Val) |
single nucleotide variant |
Early infantile epileptic encephalopathy with suppression bursts [RCV003754137] |
Chr2:165991676 [GRCh38]
Chr2:166848186 [GRCh37]
Chr2:2q24.3 |
uncertain significance |
| NM_001165963.4(SCN1A):c.3663G>T (p.Glu1221Asp) |
single nucleotide variant |
Early infantile epileptic encephalopathy with suppression bursts [RCV003754305] |
Chr2:166013786 [GRCh38]
Chr2:166870296 [GRCh37]
Chr2:2q24.3 |
likely pathogenic |
| NM_001165963.4(SCN1A):c.4969C>A (p.Arg1657Ser) |
single nucleotide variant |
Early infantile epileptic encephalopathy with suppression bursts [RCV003754319] |
Chr2:165992306 [GRCh38]
Chr2:166848816 [GRCh37]
Chr2:2q24.3 |
likely pathogenic |
| NM_001165963.4(SCN1A):c.3852G>C (p.Trp1284Cys) |
single nucleotide variant |
Early infantile epileptic encephalopathy with suppression bursts [RCV003754210] |
Chr2:166012136 [GRCh38]
Chr2:166868646 [GRCh37]
Chr2:2q24.3 |
likely pathogenic |
| NM_001165963.4(SCN1A):c.4342G>A (p.Glu1448Lys) |
single nucleotide variant |
Early infantile epileptic encephalopathy with suppression bursts [RCV003839183] |
Chr2:165998172 [GRCh38]
Chr2:166854682 [GRCh37]
Chr2:2q24.3 |
uncertain significance |
| NM_001165963.4(SCN1A):c.1351C>T (p.Leu451Phe) |
single nucleotide variant |
Early infantile epileptic encephalopathy with suppression bursts [RCV003753466] |
Chr2:166046796 [GRCh38]
Chr2:166903306 [GRCh37]
Chr2:2q24.3 |
uncertain significance |
| NM_001165963.4(SCN1A):c.780A>G (p.Val260=) |
single nucleotide variant |
Early infantile epileptic encephalopathy with suppression bursts [RCV003753490] |
Chr2:166051903 [GRCh38]
Chr2:166908413 [GRCh37]
Chr2:2q24.3 |
likely benign |
| NM_001165963.4(SCN1A):c.5344A>G (p.Ile1782Val) |
single nucleotide variant |
Early infantile epileptic encephalopathy with suppression bursts [RCV003754165] |
Chr2:165991931 [GRCh38]
Chr2:166848441 [GRCh37]
Chr2:2q24.3 |
likely pathogenic |
| NM_001165963.4(SCN1A):c.4081T>G (p.Phe1361Val) |
single nucleotide variant |
Early infantile epileptic encephalopathy with suppression bursts [RCV003754169] |
Chr2:166002675 [GRCh38]
Chr2:166859185 [GRCh37]
Chr2:2q24.3 |
likely pathogenic |
| NM_001165963.4(SCN1A):c.5103C>T (p.Ile1701=) |
single nucleotide variant |
Early infantile epileptic encephalopathy with suppression bursts [RCV003752972] |
Chr2:165992172 [GRCh38]
Chr2:166848682 [GRCh37]
Chr2:2q24.3 |
likely benign |
| NM_001165963.4(SCN1A):c.5096T>C (p.Val1699Ala) |
single nucleotide variant |
Early infantile epileptic encephalopathy with suppression bursts [RCV003753007] |
Chr2:165992179 [GRCh38]
Chr2:166848689 [GRCh37]
Chr2:2q24.3 |
uncertain significance |
| NM_001165963.4(SCN1A):c.1869T>C (p.Ser623=) |
single nucleotide variant |
Early infantile epileptic encephalopathy with suppression bursts [RCV003754207] |
Chr2:166043843 [GRCh38]
Chr2:166900353 [GRCh37]
Chr2:2q24.3 |
likely benign |
| NM_001165963.4(SCN1A):c.253dup (p.Ile85fs) |
duplication |
Early infantile epileptic encephalopathy with suppression bursts [RCV003754223] |
Chr2:166073368..166073369 [GRCh38]
Chr2:166929878..166929879 [GRCh37]
Chr2:2q24.3 |
pathogenic |
| NM_001165963.4(SCN1A):c.3783C>T (p.Tyr1261=) |
single nucleotide variant |
Early infantile epileptic encephalopathy with suppression bursts [RCV003754528] |
Chr2:166012205 [GRCh38]
Chr2:166868715 [GRCh37]
Chr2:2q24.3 |
likely benign |
| NM_001165963.4(SCN1A):c.1081G>A (p.Gly361Ser) |
single nucleotide variant |
Early infantile epileptic encephalopathy with suppression bursts [RCV003754535] |
Chr2:166047716 [GRCh38]
Chr2:166904226 [GRCh37]
Chr2:2q24.3 |
uncertain significance |
| NM_001165963.4(SCN1A):c.2589+9A>G |
single nucleotide variant |
Early infantile epileptic encephalopathy with suppression bursts [RCV003754739] |
Chr2:166039414 [GRCh38]
Chr2:166895924 [GRCh37]
Chr2:2q24.3 |
likely benign |
| NM_001165963.4(SCN1A):c.1378-4dup |
duplication |
Early infantile epileptic encephalopathy with suppression bursts [RCV003752951] |
Chr2:166045330..166045331 [GRCh38]
Chr2:166901840..166901841 [GRCh37]
Chr2:2q24.3 |
uncertain significance |
| NM_001165963.4(SCN1A):c.474-17del |
deletion |
Early infantile epileptic encephalopathy with suppression bursts [RCV003753043] |
Chr2:166054783 [GRCh38]
Chr2:166911293 [GRCh37]
Chr2:2q24.3 |
benign |
| NM_001165963.4(SCN1A):c.3885A>T (p.Ser1295=) |
single nucleotide variant |
Early infantile epileptic encephalopathy with suppression bursts [RCV003753577] |
Chr2:166009836 [GRCh38]
Chr2:166866346 [GRCh37]
Chr2:2q24.3 |
likely benign |
| NM_001165963.4(SCN1A):c.4002+2455G>A |
single nucleotide variant |
Early infantile epileptic encephalopathy with suppression bursts [RCV003753584] |
Chr2:166007264 [GRCh38]
Chr2:166863774 [GRCh37]
Chr2:2q24.3 |
uncertain significance |
| NM_001165963.4(SCN1A):c.3848C>G (p.Ala1283Gly) |
single nucleotide variant |
Early infantile epileptic encephalopathy with suppression bursts [RCV003752705] |
Chr2:166012140 [GRCh38]
Chr2:166868650 [GRCh37]
Chr2:2q24.3 |
uncertain significance |
| NM_001165963.4(SCN1A):c.4156G>A (p.Asp1386Asn) |
single nucleotide variant |
Early infantile epileptic encephalopathy with suppression bursts [RCV003752757] |
Chr2:166002600 [GRCh38]
Chr2:166859110 [GRCh37]
Chr2:2q24.3 |
uncertain significance |
| NM_001165963.4(SCN1A):c.5317T>C (p.Ser1773Pro) |
single nucleotide variant |
Early infantile epileptic encephalopathy with suppression bursts [RCV003754236] |
Chr2:165991958 [GRCh38]
Chr2:166848468 [GRCh37]
Chr2:2q24.3 |
pathogenic |
| NM_001165963.4(SCN1A):c.303G>A (p.Arg101=) |
single nucleotide variant |
Early infantile epileptic encephalopathy with suppression bursts [RCV003754253] |
Chr2:166058650 [GRCh38]
Chr2:166915160 [GRCh37]
Chr2:2q24.3 |
likely benign |
| NM_001165963.4(SCN1A):c.4264T>C (p.Tyr1422His) |
single nucleotide variant |
Early infantile epileptic encephalopathy with suppression bursts [RCV003754541] |
Chr2:166002492 [GRCh38]
Chr2:166859002 [GRCh37]
Chr2:2q24.3 |
likely pathogenic |
| NM_001165963.4(SCN1A):c.257del (p.Asn86fs) |
deletion |
Early infantile epileptic encephalopathy with suppression bursts [RCV003754783] |
Chr2:166073365 [GRCh38]
Chr2:166929875 [GRCh37]
Chr2:2q24.3 |
pathogenic |
| NM_001165963.4(SCN1A):c.4611C>T (p.Phe1537=) |
single nucleotide variant |
Early infantile epileptic encephalopathy with suppression bursts [RCV003754795] |
Chr2:165994387 [GRCh38]
Chr2:166850897 [GRCh37]
Chr2:2q24.3 |
likely benign |
| NM_001165963.4(SCN1A):c.5196C>T (p.Pro1732=) |
single nucleotide variant |
Early infantile epileptic encephalopathy with suppression bursts [RCV003851526] |
Chr2:165992079 [GRCh38]
Chr2:166848589 [GRCh37]
Chr2:2q24.3 |
likely benign |
| NM_001165963.4(SCN1A):c.234G>A (p.Glu78=) |
single nucleotide variant |
Early infantile epileptic encephalopathy with suppression bursts [RCV003753616] |
Chr2:166073388 [GRCh38]
Chr2:166929898 [GRCh37]
Chr2:2q24.3 |
likely benign |
| NM_001165963.4(SCN1A):c.2695A>G (p.Ile899Val) |
single nucleotide variant |
Early infantile epileptic encephalopathy with suppression bursts [RCV003753653] |
Chr2:166038027 [GRCh38]
Chr2:166894537 [GRCh37]
Chr2:2q24.3 |
uncertain significance |
| NM_001165963.4(SCN1A):c.4002+2649T>G |
single nucleotide variant |
Early infantile epileptic encephalopathy with suppression bursts [RCV003752805] |
Chr2:166007070 [GRCh38]
Chr2:166863580 [GRCh37]
Chr2:2q24.3 |
likely benign |
| NM_001165963.4(SCN1A):c.4002+2310_4002+2311dup |
duplication |
Early infantile epileptic encephalopathy with suppression bursts [RCV003754267] |
Chr2:166007407..166007408 [GRCh38]
Chr2:166863917..166863918 [GRCh37]
Chr2:2q24.3 |
likely benign |
| NM_001165963.4(SCN1A):c.3343G>C (p.Val1115Leu) |
single nucleotide variant |
Early infantile epileptic encephalopathy with suppression bursts [RCV003754502] |
Chr2:166036134 [GRCh38]
Chr2:166892644 [GRCh37]
Chr2:2q24.3 |
uncertain significance |
| NM_001165963.4(SCN1A):c.4002+2042A>G |
single nucleotide variant |
Early infantile epileptic encephalopathy with suppression bursts [RCV003754554] |
Chr2:166007677 [GRCh38]
Chr2:166864187 [GRCh37]
Chr2:2q24.3 |
likely benign |
| NM_001165963.4(SCN1A):c.4002+2395_4002+2398dup |
duplication |
Early infantile epileptic encephalopathy with suppression bursts [RCV003754557] |
Chr2:166007320..166007321 [GRCh38]
Chr2:166863830..166863831 [GRCh37]
Chr2:2q24.3 |
likely benign |
| NM_001165963.4(SCN1A):c.2415+16G>A |
single nucleotide variant |
Early infantile epileptic encephalopathy with suppression bursts [RCV003754807] |
Chr2:166041215 [GRCh38]
Chr2:166897725 [GRCh37]
Chr2:2q24.3 |
uncertain significance |
| NM_001165963.4(SCN1A):c.750A>G (p.Val250=) |
single nucleotide variant |
Early infantile epileptic encephalopathy with suppression bursts [RCV003753705] |
Chr2:166051933 [GRCh38]
Chr2:166908443 [GRCh37]
Chr2:2q24.3 |
likely benign |
| NM_001165963.4(SCN1A):c.4915del (p.Arg1639fs) |
deletion |
Early infantile epileptic encephalopathy with suppression bursts [RCV003752917] |
Chr2:165992360 [GRCh38]
Chr2:166848870 [GRCh37]
Chr2:2q24.3 |
pathogenic |
| NM_001165963.4(SCN1A):c.2637A>G (p.Leu879=) |
single nucleotide variant |
Early infantile epileptic encephalopathy with suppression bursts [RCV003753025] |
Chr2:166038085 [GRCh38]
Chr2:166894595 [GRCh37]
Chr2:2q24.3 |
likely benign |
| NM_001165963.4(SCN1A):c.2944G>A (p.Val982Met) |
single nucleotide variant |
Early infantile epileptic encephalopathy with suppression bursts [RCV003754301] |
Chr2:166037778 [GRCh38]
Chr2:166894288 [GRCh37]
Chr2:2q24.3 |
uncertain significance |
| NM_001165963.4(SCN1A):c.4984_4986del (p.Ala1662del) |
deletion |
Early infantile epileptic encephalopathy with suppression bursts [RCV003754323] |
Chr2:165992289..165992291 [GRCh38]
Chr2:166848799..166848801 [GRCh37]
Chr2:2q24.3 |
uncertain significance |
| NM_001165963.4(SCN1A):c.1378-3T>G |
single nucleotide variant |
Early infantile epileptic encephalopathy with suppression bursts [RCV003754580] |
Chr2:166045330 [GRCh38]
Chr2:166901840 [GRCh37]
Chr2:2q24.3 |
uncertain significance |
| NM_001165963.4(SCN1A):c.2176G>T (p.Glu726Ter) |
single nucleotide variant |
Early infantile epileptic encephalopathy with suppression bursts [RCV003754832] |
Chr2:166042292 [GRCh38]
Chr2:166898802 [GRCh37]
Chr2:2q24.3 |
pathogenic |
| NM_001165963.4(SCN1A):c.703del (p.Thr235fs) |
deletion |
Early infantile epileptic encephalopathy with suppression bursts [RCV003754632] |
Chr2:166051980 [GRCh38]
Chr2:166908490 [GRCh37]
Chr2:2q24.3 |
pathogenic |
| NM_001165963.4(SCN1A):c.5183G>C (p.Gly1728Ala) |
single nucleotide variant |
Early infantile epileptic encephalopathy with suppression bursts [RCV003754633] |
Chr2:165992092 [GRCh38]
Chr2:166848602 [GRCh37]
Chr2:2q24.3 |
uncertain significance |
| NM_001165963.4(SCN1A):c.362C>G (p.Ala121Gly) |
single nucleotide variant |
Early infantile epileptic encephalopathy with suppression bursts [RCV003754839] |
Chr2:166058591 [GRCh38]
Chr2:166915101 [GRCh37]
Chr2:2q24.3 |
likely pathogenic |
| NM_001165963.4(SCN1A):c.3342T>C (p.Thr1114=) |
single nucleotide variant |
Early infantile epileptic encephalopathy with suppression bursts [RCV003858973] |
Chr2:166036135 [GRCh38]
Chr2:166892645 [GRCh37]
Chr2:2q24.3 |
likely benign |
| NM_001165963.4(SCN1A):c.531A>T (p.Gly177=) |
single nucleotide variant |
Early infantile epileptic encephalopathy with suppression bursts [RCV003590878] |
Chr2:166054709 [GRCh38]
Chr2:166911219 [GRCh37]
Chr2:2q24.3 |
likely benign |
| NM_001165963.4(SCN1A):c.4996T>A (p.Ser1666Thr) |
single nucleotide variant |
Early infantile epileptic encephalopathy with suppression bursts [RCV003590996] |
Chr2:165992279 [GRCh38]
Chr2:166848789 [GRCh37]
Chr2:2q24.3 |
likely pathogenic |
| NM_001165963.4(SCN1A):c.4134C>T (p.Asn1378=) |
single nucleotide variant |
Early infantile epileptic encephalopathy with suppression bursts [RCV003822915] |
Chr2:166002622 [GRCh38]
Chr2:166859132 [GRCh37]
Chr2:2q24.3 |
likely benign |
| NM_001165963.4(SCN1A):c.3883T>G (p.Ser1295Ala) |
single nucleotide variant |
Early infantile epileptic encephalopathy with suppression bursts [RCV003589804] |
Chr2:166009838 [GRCh38]
Chr2:166866348 [GRCh37]
Chr2:2q24.3 |
uncertain significance |
| NM_001165963.4(SCN1A):c.398T>C (p.Leu133Pro) |
single nucleotide variant |
Early infantile epileptic encephalopathy with suppression bursts [RCV003589838] |
Chr2:166056486 [GRCh38]
Chr2:166912996 [GRCh37]
Chr2:2q24.3 |
uncertain significance |
| NM_001165963.4(SCN1A):c.1903T>C (p.Phe635Leu) |
single nucleotide variant |
Early infantile epileptic encephalopathy with suppression bursts [RCV003591015] |
Chr2:166043809 [GRCh38]
Chr2:166900319 [GRCh37]
Chr2:2q24.3 |
uncertain significance |
| NM_001165963.4(SCN1A):c.4750T>C (p.Phe1584Leu) |
single nucleotide variant |
Early infantile epileptic encephalopathy with suppression bursts [RCV003589816] |
Chr2:165994248 [GRCh38]
Chr2:166850758 [GRCh37]
Chr2:2q24.3 |
uncertain significance |
| NM_001165963.4(SCN1A):c.4897A>C (p.Thr1633Pro) |
single nucleotide variant |
Early infantile epileptic encephalopathy with suppression bursts [RCV003589897] |
Chr2:165992378 [GRCh38]
Chr2:166848888 [GRCh37]
Chr2:2q24.3 |
uncertain significance |
| NM_001165963.4(SCN1A):c.5053G>A (p.Ala1685Thr) |
single nucleotide variant |
Early infantile epileptic encephalopathy with suppression bursts [RCV003588427] |
Chr2:165992222 [GRCh38]
Chr2:166848732 [GRCh37]
Chr2:2q24.3 |
likely pathogenic |
| NM_001165963.4(SCN1A):c.3551-3C>A |
single nucleotide variant |
Early infantile epileptic encephalopathy with suppression bursts [RCV003589330] |
Chr2:166013901 [GRCh38]
Chr2:166870411 [GRCh37]
Chr2:2q24.3 |
uncertain significance |
| NM_001165963.4(SCN1A):c.5266T>C (p.Cys1756Arg) |
single nucleotide variant |
Early infantile epileptic encephalopathy with suppression bursts [RCV003590027] |
Chr2:165992009 [GRCh38]
Chr2:166848519 [GRCh37]
Chr2:2q24.3 |
likely pathogenic |
| NM_001165963.4(SCN1A):c.4002+2569G>T |
single nucleotide variant |
Early infantile epileptic encephalopathy with suppression bursts [RCV003590070] |
Chr2:166007150 [GRCh38]
Chr2:166863660 [GRCh37]
Chr2:2q24.3 |
likely benign |
| NM_001165963.4(SCN1A):c.5503C>T (p.Leu1835Phe) |
single nucleotide variant |
Early infantile epileptic encephalopathy with suppression bursts [RCV003588452] |
Chr2:165991772 [GRCh38]
Chr2:166848282 [GRCh37]
Chr2:2q24.3 |
pathogenic |
| NM_001165963.4(SCN1A):c.1150T>C (p.Trp384Arg) |
single nucleotide variant |
Early infantile epileptic encephalopathy with suppression bursts [RCV003588468] |
Chr2:166047647 [GRCh38]
Chr2:166904157 [GRCh37]
Chr2:2q24.3 |
pathogenic |
| NM_001165963.4(SCN1A):c.278T>C (p.Leu93Ser) |
single nucleotide variant |
Early infantile epileptic encephalopathy with suppression bursts [RCV003588473] |
Chr2:166058675 [GRCh38]
Chr2:166915185 [GRCh37]
Chr2:2q24.3 |
likely pathogenic |
| NM_001165963.4(SCN1A):c.264+1G>A |
single nucleotide variant |
Early infantile epileptic encephalopathy with suppression bursts [RCV003590216] |
Chr2:166073357 [GRCh38]
Chr2:166929867 [GRCh37]
Chr2:2q24.3 |
likely pathogenic |
| NM_001165963.4(SCN1A):c.5322C>A (p.Phe1774Leu) |
single nucleotide variant |
Early infantile epileptic encephalopathy with suppression bursts [RCV003590238] |
Chr2:165991953 [GRCh38]
Chr2:166848463 [GRCh37]
Chr2:2q24.3 |
pathogenic |
| NM_001165963.4(SCN1A):c.1216_1217insGC (p.Val406fs) |
insertion |
Early infantile epileptic encephalopathy with suppression bursts [RCV003590323] |
Chr2:166046930..166046931 [GRCh38]
Chr2:166903440..166903441 [GRCh37]
Chr2:2q24.3 |
pathogenic |
| NM_001165963.4(SCN1A):c.2415+20A>G |
single nucleotide variant |
Early infantile epileptic encephalopathy with suppression bursts [RCV003590316] |
Chr2:166041211 [GRCh38]
Chr2:166897721 [GRCh37]
Chr2:2q24.3 |
likely benign |
| NM_001165963.4(SCN1A):c.322C>G (p.Leu108Val) |
single nucleotide variant |
Early infantile epileptic encephalopathy with suppression bursts [RCV003589476] |
Chr2:166058631 [GRCh38]
Chr2:166915141 [GRCh37]
Chr2:2q24.3 |
uncertain significance |
| NM_001165963.4(SCN1A):c.229del (p.Leu77fs) |
deletion |
Early infantile epileptic encephalopathy with suppression bursts [RCV003589532] |
Chr2:166073393 [GRCh38]
Chr2:166929903 [GRCh37]
Chr2:2q24.3 |
pathogenic |
| NM_001165963.4(SCN1A):c.2433T>C (p.Phe811=) |
single nucleotide variant |
Early infantile epileptic encephalopathy with suppression bursts [RCV003588282] |
Chr2:166039579 [GRCh38]
Chr2:166896089 [GRCh37]
Chr2:2q24.3 |
likely benign |
| NM_001165963.4(SCN1A):c.2859A>G (p.Ile953Met) |
single nucleotide variant |
Early infantile epileptic encephalopathy with suppression bursts [RCV003590368] |
Chr2:166037863 [GRCh38]
Chr2:166894373 [GRCh37]
Chr2:2q24.3 |
pathogenic |
| NM_001165963.4(SCN1A):c.2946+1G>C |
single nucleotide variant |
Early infantile epileptic encephalopathy with suppression bursts [RCV003589602] |
Chr2:166037775 [GRCh38]
Chr2:166894285 [GRCh37]
Chr2:2q24.3 |
pathogenic |
| NM_001165963.4(SCN1A):c.2119C>T (p.Pro707Ser) |
single nucleotide variant |
Early infantile epileptic encephalopathy with suppression bursts [RCV003589674] |
Chr2:166042349 [GRCh38]
Chr2:166898859 [GRCh37]
Chr2:2q24.3 |
likely benign |
| NM_001165963.4(SCN1A):c.603-17_603-12delinsACGTA |
indel |
Early infantile epileptic encephalopathy with suppression bursts [RCV003862458] |
Chr2:166052955..166052960 [GRCh38]
Chr2:166909465..166909470 [GRCh37]
Chr2:2q24.3 |
uncertain significance |
| NM_001165963.4(SCN1A):c.4003-6T>G |
single nucleotide variant |
Early infantile epileptic encephalopathy with suppression bursts [RCV003588404] |
Chr2:166002759 [GRCh38]
Chr2:166859269 [GRCh37]
Chr2:2q24.3 |
likely benign |
| NM_001165963.4(SCN1A):c.914T>C (p.Ile305Thr) |
single nucleotide variant |
Early infantile epileptic encephalopathy with suppression bursts [RCV003588439] |
Chr2:166051769 [GRCh38]
Chr2:166908279 [GRCh37]
Chr2:2q24.3 |
likely benign |
| NM_001165963.4(SCN1A):c.5143A>T (p.Ile1715Phe) |
single nucleotide variant |
Early infantile epileptic encephalopathy with suppression bursts [RCV003590298] |
Chr2:165992132 [GRCh38]
Chr2:166848642 [GRCh37]
Chr2:2q24.3 |
uncertain significance |
| NM_001165963.4(SCN1A):c.642A>G (p.Ala214=) |
single nucleotide variant |
Early infantile epileptic encephalopathy with suppression bursts [RCV003588935] |
Chr2:166052904 [GRCh38]
Chr2:166909414 [GRCh37]
Chr2:2q24.3 |
likely benign |
| NM_001165963.4(SCN1A):c.4852G>C (p.Gly1618Arg) |
single nucleotide variant |
Early infantile epileptic encephalopathy with suppression bursts [RCV003589783] |
Chr2:165994146 [GRCh38]
Chr2:166850656 [GRCh37]
Chr2:2q24.3 |
uncertain significance |
| NM_001165963.4(SCN1A):c.340T>G (p.Phe114Val) |
single nucleotide variant |
Early infantile epileptic encephalopathy with suppression bursts [RCV003590402] |
Chr2:166058613 [GRCh38]
Chr2:166915123 [GRCh37]
Chr2:2q24.3 |
uncertain significance |
| NM_001165963.4(SCN1A):c.4970G>T (p.Arg1657Leu) |
single nucleotide variant |
Early infantile epileptic encephalopathy with suppression bursts [RCV003590716] |
Chr2:165992305 [GRCh38]
Chr2:166848815 [GRCh37]
Chr2:2q24.3 |
likely pathogenic |
| NM_001165963.4(SCN1A):c.4002+2369G>A |
single nucleotide variant |
Early infantile epileptic encephalopathy with suppression bursts [RCV003866083] |
Chr2:166007350 [GRCh38]
Chr2:166863860 [GRCh37]
Chr2:2q24.3 |
likely benign |
| NM_001165963.4(SCN1A):c.1101C>T (p.Thr367=) |
single nucleotide variant |
Early infantile epileptic encephalopathy with suppression bursts [RCV003589143] |
Chr2:166047696 [GRCh38]
Chr2:166904206 [GRCh37]
Chr2:2q24.3 |
uncertain significance |
| NM_001165963.4(SCN1A):c.5313C>T (p.Ile1771=) |
single nucleotide variant |
Early infantile epileptic encephalopathy with suppression bursts [RCV003588171] |
Chr2:165991962 [GRCh38]
Chr2:166848472 [GRCh37]
Chr2:2q24.3 |
likely benign |
| NM_001165963.4(SCN1A):c.3767A>C (p.Asp1256Ala) |
single nucleotide variant |
Early infantile epileptic encephalopathy with suppression bursts [RCV003588174] |
Chr2:166012221 [GRCh38]
Chr2:166868731 [GRCh37]
Chr2:2q24.3 |
uncertain significance |
| NM_001165963.4(SCN1A):c.5289T>A (p.Ile1763=) |
single nucleotide variant |
Early infantile epileptic encephalopathy with suppression bursts [RCV003590640] |
Chr2:165991986 [GRCh38]
Chr2:166848496 [GRCh37]
Chr2:2q24.3 |
likely benign |
| NM_001165963.4(SCN1A):c.4334G>A (p.Arg1445Lys) |
single nucleotide variant |
Early infantile epileptic encephalopathy with suppression bursts [RCV003590708] |
Chr2:165999727 [GRCh38]
Chr2:166856237 [GRCh37]
Chr2:2q24.3 |
uncertain significance |
| NM_001165963.4(SCN1A):c.4002+2493C>A |
single nucleotide variant |
Early infantile epileptic encephalopathy with suppression bursts [RCV003589237] |
Chr2:166007226 [GRCh38]
Chr2:166863736 [GRCh37]
Chr2:2q24.3 |
uncertain significance |
| NM_001165963.4(SCN1A):c.1857C>T (p.Asn619=) |
single nucleotide variant |
Early infantile epileptic encephalopathy with suppression bursts [RCV003589270] |
Chr2:166043855 [GRCh38]
Chr2:166900365 [GRCh37]
Chr2:2q24.3 |
likely benign |
| NM_001165963.4(SCN1A):c.2177-19_2177-18insTG |
insertion |
Early infantile epileptic encephalopathy with suppression bursts [RCV003588258] |
Chr2:166041487..166041488 [GRCh38]
Chr2:166897997..166897998 [GRCh37]
Chr2:2q24.3 |
likely benign |
| NM_001165963.4(SCN1A):c.4111G>A (p.Gly1371Ser) |
single nucleotide variant |
Early infantile epileptic encephalopathy with suppression bursts [RCV003589009] |
Chr2:166002645 [GRCh38]
Chr2:166859155 [GRCh37]
Chr2:2q24.3 |
likely pathogenic |
| NM_001165963.4(SCN1A):c.662_663delinsAT (p.Leu221His) |
indel |
Early infantile epileptic encephalopathy with suppression bursts [RCV003589336] |
Chr2:166052883..166052884 [GRCh38]
Chr2:166909393..166909394 [GRCh37]
Chr2:2q24.3 |
uncertain significance |
| NM_001165963.4(SCN1A):c.1915G>A (p.Gly639Arg) |
single nucleotide variant |
Early infantile epileptic encephalopathy with suppression bursts [RCV003589091] |
Chr2:166043797 [GRCh38]
Chr2:166900307 [GRCh37]
Chr2:2q24.3 |
uncertain significance |
| NM_001165963.4(SCN1A):c.5983G>C (p.Glu1995Gln) |
single nucleotide variant |
Early infantile epileptic encephalopathy with suppression bursts [RCV003589026] |
Chr2:165991292 [GRCh38]
Chr2:166847802 [GRCh37]
Chr2:2q24.3 |
uncertain significance |
| NM_001165963.4(SCN1A):c.2449C>T (p.Leu817=) |
single nucleotide variant |
Early infantile epileptic encephalopathy with suppression bursts [RCV003590934] |
Chr2:166039563 [GRCh38]
Chr2:166896073 [GRCh37]
Chr2:2q24.3 |
likely benign |
| NM_001165963.4(SCN1A):c.5071A>G (p.Asn1691Asp) |
single nucleotide variant |
Early infantile epileptic encephalopathy with suppression bursts [RCV003590992] |
Chr2:165992204 [GRCh38]
Chr2:166848714 [GRCh37]
Chr2:2q24.3 |
uncertain significance |
| NM_001165963.4(SCN1A):c.1822T>A (p.Leu608Met) |
single nucleotide variant |
Early infantile epileptic encephalopathy with suppression bursts [RCV003589470] |
Chr2:166043890 [GRCh38]
Chr2:166900400 [GRCh37]
Chr2:2q24.3 |
uncertain significance |
| NM_001165963.4(SCN1A):c.3327_3328del (p.Leu1111fs) |
deletion |
Early infantile epileptic encephalopathy with suppression bursts [RCV003588459] |
Chr2:166036149..166036150 [GRCh38]
Chr2:166892659..166892660 [GRCh37]
Chr2:2q24.3 |
pathogenic |
| NM_001165963.4(SCN1A):c.2864C>T (p.Thr955Ile) |
single nucleotide variant |
Early infantile epileptic encephalopathy with suppression bursts [RCV003588462] |
Chr2:166037858 [GRCh38]
Chr2:166894368 [GRCh37]
Chr2:2q24.3 |
likely pathogenic |
| NM_001165963.4(SCN1A):c.1198A>G (p.Met400Val) |
single nucleotide variant |
Early infantile epileptic encephalopathy with suppression bursts [RCV003588466] |
Chr2:166046949 [GRCh38]
Chr2:166903459 [GRCh37]
Chr2:2q24.3 |
likely pathogenic |
| NM_001165963.4(SCN1A):c.694+1G>A |
single nucleotide variant |
Early infantile epileptic encephalopathy with suppression bursts [RCV003588471] |
Chr2:166052851 [GRCh38]
Chr2:166909361 [GRCh37]
Chr2:2q24.3 |
pathogenic |
| NM_001165963.4(SCN1A):c.524C>T (p.Ala175Val) |
single nucleotide variant |
Early infantile epileptic encephalopathy with suppression bursts [RCV003588472] |
Chr2:166054716 [GRCh38]
Chr2:166911226 [GRCh37]
Chr2:2q24.3 |
pathogenic |
| NM_001165963.4(SCN1A):c.4260del (p.Phe1420fs) |
deletion |
Early infantile epileptic encephalopathy with suppression bursts [RCV003589568] |
Chr2:166002496 [GRCh38]
Chr2:166859006 [GRCh37]
Chr2:2q24.3 |
pathogenic |
| NM_001165963.4(SCN1A):c.603-12T>G |
single nucleotide variant |
Early infantile epileptic encephalopathy with suppression bursts [RCV003863339] |
Chr2:166052955 [GRCh38]
Chr2:166909465 [GRCh37]
Chr2:2q24.3 |
likely benign |
| NM_001165963.4(SCN1A):c.2929_2944del (p.Val977fs) |
deletion |
Early infantile epileptic encephalopathy with suppression bursts [RCV003589725] |
Chr2:166037778..166037793 [GRCh38]
Chr2:166894288..166894303 [GRCh37]
Chr2:2q24.3 |
pathogenic |
| NM_001165963.4(SCN1A):c.258dup (p.Lys87Ter) |
duplication |
Early infantile epileptic encephalopathy with suppression bursts [RCV003589442] |
Chr2:166073363..166073364 [GRCh38]
Chr2:166929873..166929874 [GRCh37]
Chr2:2q24.3 |
pathogenic |
| NM_001165963.4(SCN1A):c.3280A>G (p.Lys1094Glu) |
single nucleotide variant |
Early infantile epileptic encephalopathy with suppression bursts [RCV003589458] |
Chr2:166036197 [GRCh38]
Chr2:166892707 [GRCh37]
Chr2:2q24.3 |
uncertain significance |
| NM_001165963.4(SCN1A):c.1508A>G (p.Lys503Arg) |
single nucleotide variant |
Early infantile epileptic encephalopathy with suppression bursts [RCV003589535] |
Chr2:166045197 [GRCh38]
Chr2:166901707 [GRCh37]
Chr2:2q24.3 |
uncertain significance |
| NM_001165963.4(SCN1A):c.1659C>A (p.His553Gln) |
single nucleotide variant |
Early infantile epileptic encephalopathy with suppression bursts [RCV003590626] |
Chr2:166045046 [GRCh38]
Chr2:166901556 [GRCh37]
Chr2:2q24.3 |
uncertain significance |
| NM_001165963.4(SCN1A):c.664C>G (p.Arg222Gly) |
single nucleotide variant |
Early infantile epileptic encephalopathy with suppression bursts [RCV003590512] |
Chr2:166052882 [GRCh38]
Chr2:166909392 [GRCh37]
Chr2:2q24.3 |
uncertain significance |
| NM_001165963.4(SCN1A):c.3232G>C (p.Asp1078His) |
single nucleotide variant |
Early infantile epileptic encephalopathy with suppression bursts [RCV003589585] |
Chr2:166036245 [GRCh38]
Chr2:166892755 [GRCh37]
Chr2:2q24.3 |
uncertain significance |
| NM_001165963.4(SCN1A):c.5281_5282del (p.Val1761fs) |
deletion |
Early infantile epileptic encephalopathy with suppression bursts [RCV003588163] |
Chr2:165991993..165991994 [GRCh38]
Chr2:166848503..166848504 [GRCh37]
Chr2:2q24.3 |
pathogenic |
| NM_001165963.4(SCN1A):c.4002+2557G>T |
single nucleotide variant |
Early infantile epileptic encephalopathy with suppression bursts [RCV003588979] |
Chr2:166007162 [GRCh38]
Chr2:166863672 [GRCh37]
Chr2:2q24.3 |
likely benign |
| NM_001165963.4(SCN1A):c.3951A>G (p.Thr1317=) |
single nucleotide variant |
Early infantile epileptic encephalopathy with suppression bursts [RCV003589569] |
Chr2:166009770 [GRCh38]
Chr2:166866280 [GRCh37]
Chr2:2q24.3 |
likely benign |
| NM_001165963.4(SCN1A):c.5461C>A (p.Gln1821Lys) |
single nucleotide variant |
Early infantile epileptic encephalopathy with suppression bursts [RCV003589601] |
Chr2:165991814 [GRCh38]
Chr2:166848324 [GRCh37]
Chr2:2q24.3 |
uncertain significance |
| NM_001165963.4(SCN1A):c.2993del (p.Asp998fs) |
deletion |
Early infantile epileptic encephalopathy with suppression bursts [RCV003589889] |
Chr2:166036484 [GRCh38]
Chr2:166892994 [GRCh37]
Chr2:2q24.3 |
pathogenic |
| NM_001165963.4(SCN1A):c.3260G>A (p.Gly1087Glu) |
single nucleotide variant |
Early infantile epileptic encephalopathy with suppression bursts [RCV003870899] |
Chr2:166036217 [GRCh38]
Chr2:166892727 [GRCh37]
Chr2:2q24.3 |
uncertain significance |
| NM_001165963.4(SCN1A):c.494A>G (p.Tyr165Cys) |
single nucleotide variant |
Early infantile epileptic encephalopathy with suppression bursts [RCV003589986] |
Chr2:166054746 [GRCh38]
Chr2:166911256 [GRCh37]
Chr2:2q24.3 |
likely pathogenic |
| NM_001165963.4(SCN1A):c.5068T>C (p.Ser1690Pro) |
single nucleotide variant |
Early infantile epileptic encephalopathy with suppression bursts [RCV003589992] |
Chr2:165992207 [GRCh38]
Chr2:166848717 [GRCh37]
Chr2:2q24.3 |
uncertain significance |
| NM_001165963.4(SCN1A):c.5027T>C (p.Leu1676Pro) |
single nucleotide variant |
Early infantile epileptic encephalopathy with suppression bursts [RCV003590005] |
Chr2:165992248 [GRCh38]
Chr2:166848758 [GRCh37]
Chr2:2q24.3 |
uncertain significance |
| NM_001165963.4(SCN1A):c.603-12_603-11insTA |
insertion |
Early infantile epileptic encephalopathy with suppression bursts [RCV003863338] |
Chr2:166052954..166052955 [GRCh38]
Chr2:166909464..166909465 [GRCh37]
Chr2:2q24.3 |
likely benign |
| NM_001165963.4(SCN1A):c.1028+13T>A |
single nucleotide variant |
Early infantile epileptic encephalopathy with suppression bursts [RCV003588187] |
Chr2:166048873 [GRCh38]
Chr2:166905383 [GRCh37]
Chr2:2q24.3 |
likely benign |
| GRCh37/hg19 2q24.3-31.1(chr2:165813403-169865235)x1 |
copy number loss |
not specified [RCV003986391] |
Chr2:165813403..169865235 [GRCh37]
Chr2:2q24.3-31.1 |
pathogenic |
| NM_001165963.4(SCN1A):c.1800dup (p.Asn601Ter) |
duplication |
Early infantile epileptic encephalopathy with suppression bursts [RCV003588247] |
Chr2:166043911..166043912 [GRCh38]
Chr2:166900421..166900422 [GRCh37]
Chr2:2q24.3 |
pathogenic |
| NM_001165963.4(SCN1A):c.3695G>T (p.Ser1232Ile) |
single nucleotide variant |
Early infantile epileptic encephalopathy with suppression bursts [RCV003590156] |
Chr2:166013754 [GRCh38]
Chr2:166870264 [GRCh37]
Chr2:2q24.3 |
likely pathogenic |
| NM_001165963.4(SCN1A):c.1029-3C>T |
single nucleotide variant |
Early infantile epileptic encephalopathy with suppression bursts [RCV003590166] |
Chr2:166047771 [GRCh38]
Chr2:166904281 [GRCh37]
Chr2:2q24.3 |
uncertain significance |
| NM_001165963.4(SCN1A):c.441G>A (p.Met147Ile) |
single nucleotide variant |
Early infantile epileptic encephalopathy with suppression bursts [RCV003588415] |
Chr2:166056443 [GRCh38]
Chr2:166912953 [GRCh37]
Chr2:2q24.3 |
uncertain significance |
| NM_001165963.4(SCN1A):c.4540T>A (p.Leu1514Ile) |
single nucleotide variant |
Early infantile epileptic encephalopathy with suppression bursts [RCV003590338] |
Chr2:165996054 [GRCh38]
Chr2:166852564 [GRCh37]
Chr2:2q24.3 |
likely pathogenic |
| NM_001165963.4(SCN1A):c.1976T>C (p.Val659Ala) |
single nucleotide variant |
Early infantile epileptic encephalopathy with suppression bursts [RCV003871447] |
Chr2:166043736 [GRCh38]
Chr2:166900246 [GRCh37]
Chr2:2q24.3 |
uncertain significance |
| NM_001165963.4(SCN1A):c.3075T>G (p.Tyr1025Ter) |
single nucleotide variant |
Early infantile epileptic encephalopathy with suppression bursts [RCV003588461] |
Chr2:166036402 [GRCh38]
Chr2:166892912 [GRCh37]
Chr2:2q24.3 |
pathogenic |
| NM_001165963.4(SCN1A):c.5108A>G (p.Asp1703Gly) |
single nucleotide variant |
Early infantile epileptic encephalopathy with suppression bursts [RCV003590284] |
Chr2:165992167 [GRCh38]
Chr2:166848677 [GRCh37]
Chr2:2q24.3 |
uncertain significance |
| NM_001165963.4(SCN1A):c.4889T>C (p.Val1630Ala) |
single nucleotide variant |
Early infantile epileptic encephalopathy with suppression bursts [RCV003590623] |
Chr2:165992386 [GRCh38]
Chr2:166848896 [GRCh37]
Chr2:2q24.3 |
likely pathogenic |
| NM_001165963.4(SCN1A):c.5613del (p.Phe1871fs) |
deletion |
Early infantile epileptic encephalopathy with suppression bursts [RCV003588971] |
Chr2:165991662 [GRCh38]
Chr2:166848172 [GRCh37]
Chr2:2q24.3 |
pathogenic |
| NM_001165963.4(SCN1A):c.4039A>T (p.Ile1347Phe) |
single nucleotide variant |
Early infantile epileptic encephalopathy with suppression bursts [RCV003590764] |
Chr2:166002717 [GRCh38]
Chr2:166859227 [GRCh37]
Chr2:2q24.3 |
likely pathogenic |
| NM_001165963.4(SCN1A):c.4002+2544G>C |
single nucleotide variant |
Early infantile epileptic encephalopathy with suppression bursts [RCV003862331] |
Chr2:166007175 [GRCh38]
Chr2:166863685 [GRCh37]
Chr2:2q24.3 |
likely benign |
| NM_001165963.4(SCN1A):c.4310T>A (p.Ile1437Lys) |
single nucleotide variant |
Early infantile epileptic encephalopathy with suppression bursts [RCV003590877] |
Chr2:165999751 [GRCh38]
Chr2:166856261 [GRCh37]
Chr2:2q24.3 |
likely pathogenic |
| NM_001165963.4(SCN1A):c.2703C>A (p.Val901=) |
single nucleotide variant |
Early infantile epileptic encephalopathy with suppression bursts [RCV003590955] |
Chr2:166038019 [GRCh38]
Chr2:166894529 [GRCh37]
Chr2:2q24.3 |
likely benign |
| NM_001165963.4(SCN1A):c.4002+2636C>T |
single nucleotide variant |
Early infantile epileptic encephalopathy with suppression bursts [RCV003590952] |
Chr2:166007083 [GRCh38]
Chr2:166863593 [GRCh37]
Chr2:2q24.3 |
likely benign |
| NM_001165963.4(SCN1A):c.1854dup (p.Asn619fs) |
duplication |
Early infantile epileptic encephalopathy with suppression bursts [RCV003591005] |
Chr2:166043857..166043858 [GRCh38]
Chr2:166900367..166900368 [GRCh37]
Chr2:2q24.3 |
pathogenic |
| NM_001165963.4(SCN1A):c.2044-6_2044-5dup |
duplication |
Early infantile epileptic encephalopathy with suppression bursts [RCV003872094] |
Chr2:166042428..166042429 [GRCh38]
Chr2:166898938..166898939 [GRCh37]
Chr2:2q24.3 |
benign |
| NM_001165963.4(SCN1A):c.3455C>T (p.Ser1152Leu) |
single nucleotide variant |
Early infantile epileptic encephalopathy with suppression bursts [RCV003589281] |
Chr2:166015702 [GRCh38]
Chr2:166872212 [GRCh37]
Chr2:2q24.3 |
uncertain significance |
| NM_001165963.4(SCN1A):c.4002+2098T>G |
single nucleotide variant |
Early infantile epileptic encephalopathy with suppression bursts [RCV003841531] |
Chr2:166007621 [GRCh38]
Chr2:166864131 [GRCh37]
Chr2:2q24.3 |
likely benign |
| NM_001165963.4(SCN1A):c.3362A>T (p.Glu1121Val) |
single nucleotide variant |
Early infantile epileptic encephalopathy with suppression bursts [RCV003589418] |
Chr2:166036115 [GRCh38]
Chr2:166892625 [GRCh37]
Chr2:2q24.3 |
uncertain significance |
| NM_001165963.4(SCN1A):c.353G>A (p.Arg118Lys) |
single nucleotide variant |
Early infantile epileptic encephalopathy with suppression bursts [RCV003589251] |
Chr2:166058600 [GRCh38]
Chr2:166915110 [GRCh37]
Chr2:2q24.3 |
uncertain significance |
| GRCh37/hg19 2q24.2-31.1(chr2:162692199-174452488)x1 |
copy number loss |
not specified [RCV003986346] |
Chr2:162692199..174452488 [GRCh37]
Chr2:2q24.2-31.1 |
pathogenic |
| NM_001165963.4(SCN1A):c.2725A>G (p.Met909Val) |
single nucleotide variant |
Early infantile epileptic encephalopathy with suppression bursts [RCV003589717] |
Chr2:166037997 [GRCh38]
Chr2:166894507 [GRCh37]
Chr2:2q24.3 |
uncertain significance |
| NM_001165963.4(SCN1A):c.3550+8A>C |
single nucleotide variant |
Early infantile epileptic encephalopathy with suppression bursts [RCV003589739] |
Chr2:166015599 [GRCh38]
Chr2:166872109 [GRCh37]
Chr2:2q24.3 |
likely benign |
| NM_001165963.4(SCN1A):c.5456C>G (p.Ala1819Gly) |
single nucleotide variant |
Early infantile epileptic encephalopathy with suppression bursts [RCV003589748] |
Chr2:165991819 [GRCh38]
Chr2:166848329 [GRCh37]
Chr2:2q24.3 |
uncertain significance |
| NM_001165963.4(SCN1A):c.4070T>A (p.Phe1357Tyr) |
single nucleotide variant |
Early infantile epileptic encephalopathy with suppression bursts [RCV003589777] |
Chr2:166002686 [GRCh38]
Chr2:166859196 [GRCh37]
Chr2:2q24.3 |
uncertain significance |
| NM_001165963.4(SCN1A):c.1809C>A (p.Ser603Arg) |
single nucleotide variant |
Early infantile epileptic encephalopathy with suppression bursts [RCV003589795] |
Chr2:166043903 [GRCh38]
Chr2:166900413 [GRCh37]
Chr2:2q24.3 |
uncertain significance |
| NM_001165963.4(SCN1A):c.4799T>A (p.Phe1600Tyr) |
single nucleotide variant |
Early infantile epileptic encephalopathy with suppression bursts [RCV003589803] |
Chr2:165994199 [GRCh38]
Chr2:166850709 [GRCh37]
Chr2:2q24.3 |
uncertain significance |
| NM_001165963.4(SCN1A):c.2630A>G (p.Asn877Ser) |
single nucleotide variant |
Early infantile epileptic encephalopathy with suppression bursts [RCV003868447] |
Chr2:166038092 [GRCh38]
Chr2:166894602 [GRCh37]
Chr2:2q24.3 |
uncertain significance |
| NM_001165963.4(SCN1A):c.2434A>C (p.Thr812Pro) |
single nucleotide variant |
Early infantile epileptic encephalopathy with suppression bursts [RCV003588276] |
Chr2:166039578 [GRCh38]
Chr2:166896088 [GRCh37]
Chr2:2q24.3 |
likely pathogenic |
| NM_001165963.4(SCN1A):c.4309A>G (p.Ile1437Val) |
single nucleotide variant |
Early infantile epileptic encephalopathy with suppression bursts [RCV003590134] |
Chr2:165999752 [GRCh38]
Chr2:166856262 [GRCh37]
Chr2:2q24.3 |
likely pathogenic |
| NM_001165963.4(SCN1A):c.965-15T>C |
single nucleotide variant |
Early infantile epileptic encephalopathy with suppression bursts [RCV003590164] |
Chr2:166048964 [GRCh38]
Chr2:166905474 [GRCh37]
Chr2:2q24.3 |
likely benign |
| NM_001165963.4(SCN1A):c.3550+6G>T |
single nucleotide variant |
Early infantile epileptic encephalopathy with suppression bursts [RCV003590040] |
Chr2:166015601 [GRCh38]
Chr2:166872111 [GRCh37]
Chr2:2q24.3 |
uncertain significance |
| NM_001165963.4(SCN1A):c.5309T>A (p.Ile1770Asn) |
single nucleotide variant |
Early infantile epileptic encephalopathy with suppression bursts [RCV003588453] |
Chr2:165991966 [GRCh38]
Chr2:166848476 [GRCh37]
Chr2:2q24.3 |
pathogenic |
| NM_001165963.4(SCN1A):c.3633T>A (p.Cys1211Ter) |
single nucleotide variant |
Early infantile epileptic encephalopathy with suppression bursts [RCV003588458] |
Chr2:166013816 [GRCh38]
Chr2:166870326 [GRCh37]
Chr2:2q24.3 |
pathogenic |
| NM_001165963.4(SCN1A):c.2525T>G (p.Leu842Arg) |
single nucleotide variant |
Early infantile epileptic encephalopathy with suppression bursts [RCV003588465] |
Chr2:166039487 [GRCh38]
Chr2:166895997 [GRCh37]
Chr2:2q24.3 |
pathogenic |
| NM_001165963.4(SCN1A):c.4578A>G (p.Pro1526=) |
single nucleotide variant |
Early infantile epileptic encephalopathy with suppression bursts [RCV003588519] |
Chr2:165996016 [GRCh38]
Chr2:166852526 [GRCh37]
Chr2:2q24.3 |
likely benign |
| NM_001165963.4(SCN1A):c.5350G>C (p.Val1784Leu) |
single nucleotide variant |
Early infantile epileptic encephalopathy with suppression bursts [RCV003590314] |
Chr2:165991925 [GRCh38]
Chr2:166848435 [GRCh37]
Chr2:2q24.3 |
uncertain significance |
| NM_001165963.4(SCN1A):c.4161C>G (p.Ile1387Met) |
single nucleotide variant |
Early infantile epileptic encephalopathy with suppression bursts [RCV003590470] |
Chr2:166002595 [GRCh38]
Chr2:166859105 [GRCh37]
Chr2:2q24.3 |
uncertain significance |
| NM_001165963.4(SCN1A):c.4002+2182A>G |
single nucleotide variant |
Early infantile epileptic encephalopathy with suppression bursts [RCV003853886] |
Chr2:166007537 [GRCh38]
Chr2:166864047 [GRCh37]
Chr2:2q24.3 |
likely benign |
| NM_001165963.4(SCN1A):c.3996G>A (p.Gly1332=) |
single nucleotide variant |
Early infantile epileptic encephalopathy with suppression bursts [RCV003590567] |
Chr2:166009725 [GRCh38]
Chr2:166866235 [GRCh37]
Chr2:2q24.3 |
likely benign |
| NM_001165963.4(SCN1A):c.318T>C (p.Ser106=) |
single nucleotide variant |
Early infantile epileptic encephalopathy with suppression bursts [RCV003590569] |
Chr2:166058635 [GRCh38]
Chr2:166915145 [GRCh37]
Chr2:2q24.3 |
likely benign |
| NM_001165963.4(SCN1A):c.5304T>C (p.Ser1768=) |
single nucleotide variant |
Early infantile epileptic encephalopathy with suppression bursts [RCV003867759] |
Chr2:165991971 [GRCh38]
Chr2:166848481 [GRCh37]
Chr2:2q24.3 |
likely benign |
| NM_001165963.4(SCN1A):c.1750G>A (p.Val584Met) |
single nucleotide variant |
Early infantile epileptic encephalopathy with suppression bursts [RCV003867760] |
Chr2:166043962 [GRCh38]
Chr2:166900472 [GRCh37]
Chr2:2q24.3 |
uncertain significance |
| NM_001165963.4(SCN1A):c.834A>G (p.Ile278Met) |
single nucleotide variant |
Early infantile epileptic encephalopathy with suppression bursts [RCV003867761] |
Chr2:166051849 [GRCh38]
Chr2:166908359 [GRCh37]
Chr2:2q24.3 |
uncertain significance |
| NM_001165963.4(SCN1A):c.2037T>C (p.Asp679=) |
single nucleotide variant |
Early infantile epileptic encephalopathy with suppression bursts [RCV003818753] |
Chr2:166043675 [GRCh38]
Chr2:166900185 [GRCh37]
Chr2:2q24.3 |
likely benign |
| NM_001165963.4(SCN1A):c.1663-15C>A |
single nucleotide variant |
Early infantile epileptic encephalopathy with suppression bursts [RCV003589141] |
Chr2:166044064 [GRCh38]
Chr2:166900574 [GRCh37]
Chr2:2q24.3 |
likely benign |
| NM_001165963.4(SCN1A):c.452C>A (p.Pro151His) |
single nucleotide variant |
Early infantile epileptic encephalopathy with suppression bursts [RCV003589215] |
Chr2:166056432 [GRCh38]
Chr2:166912942 [GRCh37]
Chr2:2q24.3 |
uncertain significance |
| NM_001165963.4(SCN1A):c.1130G>C (p.Arg377Pro) |
single nucleotide variant |
Early infantile epileptic encephalopathy with suppression bursts [RCV003589416] |
Chr2:166047667 [GRCh38]
Chr2:166904177 [GRCh37]
Chr2:2q24.3 |
likely pathogenic |
| NM_001165963.4(SCN1A):c.1567T>C (p.Ser523Pro) |
single nucleotide variant |
Early infantile epileptic encephalopathy with suppression bursts [RCV003589031] |
Chr2:166045138 [GRCh38]
Chr2:166901648 [GRCh37]
Chr2:2q24.3 |
uncertain significance |
| NM_001165963.4(SCN1A):c.4060T>G (p.Cys1354Gly) |
single nucleotide variant |
Early infantile epileptic encephalopathy with suppression bursts [RCV003843930] |
Chr2:166002696 [GRCh38]
Chr2:166859206 [GRCh37]
Chr2:2q24.3 |
likely pathogenic |
| NM_001165963.4(SCN1A):c.3332T>C (p.Leu1111Pro) |
single nucleotide variant |
Early infantile epileptic encephalopathy with suppression bursts [RCV003862005] |
Chr2:166036145 [GRCh38]
Chr2:166892655 [GRCh37]
Chr2:2q24.3 |
uncertain significance |
| NM_001165963.4(SCN1A):c.5610T>G (p.Ala1870=) |
single nucleotide variant |
Early infantile epileptic encephalopathy with suppression bursts [RCV003589350] |
Chr2:165991665 [GRCh38]
Chr2:166848175 [GRCh37]
Chr2:2q24.3 |
likely benign |
| NM_001165963.4(SCN1A):c.4002+2147T>G |
single nucleotide variant |
Early infantile epileptic encephalopathy with suppression bursts [RCV003862622] |
Chr2:166007572 [GRCh38]
Chr2:166864082 [GRCh37]
Chr2:2q24.3 |
likely benign |
| NM_001165963.4(SCN1A):c.4490A>G (p.Asp1497Gly) |
single nucleotide variant |
Early infantile epileptic encephalopathy with suppression bursts [RCV003589285] |
Chr2:165996104 [GRCh38]
Chr2:166852614 [GRCh37]
Chr2:2q24.3 |
likely pathogenic |
| NM_001165963.4(SCN1A):c.709G>A (p.Val237Met) |
single nucleotide variant |
Early infantile epileptic encephalopathy with suppression bursts [RCV003589401] |
Chr2:166051974 [GRCh38]
Chr2:166908484 [GRCh37]
Chr2:2q24.3 |
uncertain significance |
| NM_001165963.4(SCN1A):c.2276_2277del (p.His759fs) |
deletion |
Early infantile epileptic encephalopathy with suppression bursts [RCV003589417] |
Chr2:166041369..166041370 [GRCh38]
Chr2:166897879..166897880 [GRCh37]
Chr2:2q24.3 |
pathogenic |
| NM_001165963.4(SCN1A):c.2847T>A (p.Cys949Ter) |
single nucleotide variant |
Early infantile epileptic encephalopathy with suppression bursts [RCV003589222] |
Chr2:166037875 [GRCh38]
Chr2:166894385 [GRCh37]
Chr2:2q24.3 |
pathogenic |
| NM_001165963.4(SCN1A):c.1840C>T (p.His614Tyr) |
single nucleotide variant |
Early infantile epileptic encephalopathy with suppression bursts [RCV003589253] |
Chr2:166043872 [GRCh38]
Chr2:166900382 [GRCh37]
Chr2:2q24.3 |
uncertain significance |
| NM_001165963.4(SCN1A):c.5162C>T (p.Thr1721Ile) |
single nucleotide variant |
Early infantile epileptic encephalopathy with suppression bursts [RCV003589277] |
Chr2:165992113 [GRCh38]
Chr2:166848623 [GRCh37]
Chr2:2q24.3 |
uncertain significance |
| NM_001165963.4(SCN1A):c.2883G>A (p.Glu961=) |
single nucleotide variant |
Early infantile epileptic encephalopathy with suppression bursts [RCV003591037] |
Chr2:166037839 [GRCh38]
Chr2:166894349 [GRCh37]
Chr2:2q24.3 |
likely benign |
| NM_001165963.4(SCN1A):c.3774T>G (p.Val1258=) |
single nucleotide variant |
Early infantile epileptic encephalopathy with suppression bursts [RCV003589372] |
Chr2:166012214 [GRCh38]
Chr2:166868724 [GRCh37]
Chr2:2q24.3 |
likely benign |
| NM_001165963.4(SCN1A):c.5569del (p.Met1856_Val1857insTer) |
deletion |
Early infantile epileptic encephalopathy with suppression bursts [RCV003589440] |
Chr2:165991706 [GRCh38]
Chr2:166848216 [GRCh37]
Chr2:2q24.3 |
pathogenic |
| NM_001165963.4(SCN1A):c.4393dup (p.Ile1465fs) |
duplication |
Early infantile epileptic encephalopathy with suppression bursts [RCV003589533] |
Chr2:165998120..165998121 [GRCh38]
Chr2:166854630..166854631 [GRCh37]
Chr2:2q24.3 |
pathogenic |
| NM_001165963.4(SCN1A):c.4392T>C (p.Val1464=) |
single nucleotide variant |
Early infantile epileptic encephalopathy with suppression bursts [RCV003589534] |
Chr2:165998122 [GRCh38]
Chr2:166854632 [GRCh37]
Chr2:2q24.3 |
likely benign |
| NM_001165963.4(SCN1A):c.4133_4134insATAA (p.Asn1378delinsLysTer) |
insertion |
Early infantile epileptic encephalopathy with suppression bursts [RCV003589559] |
Chr2:166002622..166002623 [GRCh38]
Chr2:166859132..166859133 [GRCh37]
Chr2:2q24.3 |
pathogenic |
| NM_001165963.4(SCN1A):c.4853-16C>T |
single nucleotide variant |
Early infantile epileptic encephalopathy with suppression bursts [RCV003590953] |
Chr2:165992438 [GRCh38]
Chr2:166848948 [GRCh37]
Chr2:2q24.3 |
likely benign |
| NM_001165963.4(SCN1A):c.1594A>G (p.Lys532Glu) |
single nucleotide variant |
Early infantile epileptic encephalopathy with suppression bursts [RCV003589457] |
Chr2:166045111 [GRCh38]
Chr2:166901621 [GRCh37]
Chr2:2q24.3 |
uncertain significance |
| NM_001165963.4(SCN1A):c.4001G>A (p.Arg1334Lys) |
single nucleotide variant |
Early infantile epileptic encephalopathy with suppression bursts [RCV003589603] |
Chr2:166009720 [GRCh38]
Chr2:166866230 [GRCh37]
Chr2:2q24.3 |
uncertain significance |
| NM_001165963.4(SCN1A):c.1317G>A (p.Gln439=) |
single nucleotide variant |
Early infantile epileptic encephalopathy with suppression bursts [RCV003589616] |
Chr2:166046830 [GRCh38]
Chr2:166903340 [GRCh37]
Chr2:2q24.3 |
likely benign |
| NM_001165963.4(SCN1A):c.4306G>A (p.Asp1436Asn) |
single nucleotide variant |
Early infantile epileptic encephalopathy with suppression bursts [RCV003823843] |
Chr2:165999755 [GRCh38]
Chr2:166856265 [GRCh37]
Chr2:2q24.3 |
uncertain significance |
| NM_001165963.4(SCN1A):c.5323del (p.Leu1775fs) |
deletion |
Early infantile epileptic encephalopathy with suppression bursts [RCV003589746] |
Chr2:165991952 [GRCh38]
Chr2:166848462 [GRCh37]
Chr2:2q24.3 |
pathogenic |
| NM_001165963.4(SCN1A):c.4637G>A (p.Ser1546Asn) |
single nucleotide variant |
Early infantile epileptic encephalopathy with suppression bursts [RCV003589767] |
Chr2:165994361 [GRCh38]
Chr2:166850871 [GRCh37]
Chr2:2q24.3 |
uncertain significance |
| NM_001165963.4(SCN1A):c.449dup (p.Pro151fs) |
duplication |
Early infantile epileptic encephalopathy with suppression bursts [RCV003589799] |
Chr2:166056434..166056435 [GRCh38]
Chr2:166912944..166912945 [GRCh37]
Chr2:2q24.3 |
pathogenic |
| NM_001165963.4(SCN1A):c.3663G>C (p.Glu1221Asp) |
single nucleotide variant |
Early infantile epileptic encephalopathy with suppression bursts [RCV003589761] |
Chr2:166013786 [GRCh38]
Chr2:166870296 [GRCh37]
Chr2:2q24.3 |
likely pathogenic |
| NM_001165963.4(SCN1A):c.4965G>A (p.Gly1655=) |
single nucleotide variant |
Early infantile epileptic encephalopathy with suppression bursts [RCV003589788] |
Chr2:165992310 [GRCh38]
Chr2:166848820 [GRCh37]
Chr2:2q24.3 |
likely benign |
| NM_001165963.4(SCN1A):c.4002+14A>C |
single nucleotide variant |
Early infantile epileptic encephalopathy with suppression bursts [RCV003589876] |
Chr2:166009705 [GRCh38]
Chr2:166866215 [GRCh37]
Chr2:2q24.3 |
likely benign |
| NM_001165963.4(SCN1A):c.901A>G (p.Asn301Asp) |
single nucleotide variant |
Early infantile epileptic encephalopathy with suppression bursts [RCV003589898] |
Chr2:166051782 [GRCh38]
Chr2:166908292 [GRCh37]
Chr2:2q24.3 |
uncertain significance |
| NM_001165963.4(SCN1A):c.4328A>G (p.Asp1443Gly) |
single nucleotide variant |
Early infantile epileptic encephalopathy with suppression bursts [RCV003591086] |
Chr2:165999733 [GRCh38]
Chr2:166856243 [GRCh37]
Chr2:2q24.3 |
uncertain significance |
| NM_001165963.4(SCN1A):c.3449G>A (p.Ser1150Asn) |
single nucleotide variant |
Early infantile epileptic encephalopathy with suppression bursts [RCV003589902] |
Chr2:166015708 [GRCh38]
Chr2:166872218 [GRCh37]
Chr2:2q24.3 |
likely benign |
| NM_001165963.4(SCN1A):c.5134A>G (p.Asn1712Asp) |
single nucleotide variant |
Early infantile epileptic encephalopathy with suppression bursts [RCV003589839] |
Chr2:165992141 [GRCh38]
Chr2:166848651 [GRCh37]
Chr2:2q24.3 |
likely pathogenic |
| NM_001165963.4(SCN1A):c.2094del (p.His698fs) |
deletion |
Early infantile epileptic encephalopathy with suppression bursts [RCV003589815] |
Chr2:166042374 [GRCh38]
Chr2:166898884 [GRCh37]
Chr2:2q24.3 |
pathogenic |
| NM_001165963.4(SCN1A):c.5155C>G (p.Gln1719Glu) |
single nucleotide variant |
Early infantile epileptic encephalopathy with suppression bursts [RCV003589921] |
Chr2:165992120 [GRCh38]
Chr2:166848630 [GRCh37]
Chr2:2q24.3 |
uncertain significance |
| NM_001165963.4(SCN1A):c.295A>G (p.Ile99Val) |
single nucleotide variant |
Early infantile epileptic encephalopathy with suppression bursts [RCV003589971] |
Chr2:166058658 [GRCh38]
Chr2:166915168 [GRCh37]
Chr2:2q24.3 |
likely pathogenic |
| NM_001165963.4(SCN1A):c.4002+1999_4002+2014del |
deletion |
Early infantile epileptic encephalopathy with suppression bursts [RCV003589982] |
Chr2:166007705..166007720 [GRCh38]
Chr2:166864215..166864230 [GRCh37]
Chr2:2q24.3 |
uncertain significance |
| NM_001165963.4(SCN1A):c.5023C>T (p.Leu1675Phe) |
single nucleotide variant |
Early infantile epileptic encephalopathy with suppression bursts [RCV003589893] |
Chr2:165992252 [GRCh38]
Chr2:166848762 [GRCh37]
Chr2:2q24.3 |
likely pathogenic |
| NM_001165963.4(SCN1A):c.5104G>C (p.Asp1702His) |
single nucleotide variant |
Early infantile epileptic encephalopathy with suppression bursts [RCV003588455] |
Chr2:165992171 [GRCh38]
Chr2:166848681 [GRCh37]
Chr2:2q24.3 |
uncertain significance |
| NM_001165963.4(SCN1A):c.1019C>T (p.Ser340Phe) |
single nucleotide variant |
Early infantile epileptic encephalopathy with suppression bursts [RCV003588469] |
Chr2:166048895 [GRCh38]
Chr2:166905405 [GRCh37]
Chr2:2q24.3 |
pathogenic |
| NM_001165963.4(SCN1A):c.404T>A (p.Met135Lys) |
single nucleotide variant |
Early infantile epileptic encephalopathy with suppression bursts [RCV003589951] |
Chr2:166056480 [GRCh38]
Chr2:166912990 [GRCh37]
Chr2:2q24.3 |
uncertain significance |
| NM_001165963.4(SCN1A):c.3551-18T>C |
single nucleotide variant |
Early infantile epileptic encephalopathy with suppression bursts [RCV003589983] |
Chr2:166013916 [GRCh38]
Chr2:166870426 [GRCh37]
Chr2:2q24.3 |
likely benign |
| NM_001165963.4(SCN1A):c.4002+2624C>G |
single nucleotide variant |
Early infantile epileptic encephalopathy with suppression bursts [RCV003843420] |
Chr2:166007095 [GRCh38]
Chr2:166863605 [GRCh37]
Chr2:2q24.3 |
likely benign |
| NM_001165963.4(SCN1A):c.5430G>T (p.Glu1810Asp) |
single nucleotide variant |
Early infantile epileptic encephalopathy with suppression bursts [RCV003589968] |
Chr2:165991845 [GRCh38]
Chr2:166848355 [GRCh37]
Chr2:2q24.3 |
uncertain significance |
| NM_001165963.4(SCN1A):c.5010G>A (p.Leu1670=) |
single nucleotide variant |
Early infantile epileptic encephalopathy with suppression bursts [RCV003590087] |
Chr2:165992265 [GRCh38]
Chr2:166848775 [GRCh37]
Chr2:2q24.3 |
likely benign |
| NM_001165963.4(SCN1A):c.4168G>T (p.Val1390Leu) |
single nucleotide variant |
Early infantile epileptic encephalopathy with suppression bursts [RCV003588457] |
Chr2:166002588 [GRCh38]
Chr2:166859098 [GRCh37]
Chr2:2q24.3 |
pathogenic |
| NM_001165963.4(SCN1A):c.249C>G (p.Tyr83Ter) |
single nucleotide variant |
Early infantile epileptic encephalopathy with suppression bursts [RCV003588474] |
Chr2:166073373 [GRCh38]
Chr2:166929883 [GRCh37]
Chr2:2q24.3 |
pathogenic |
| NM_001165963.4(SCN1A):c.3200C>A (p.Ala1067Glu) |
single nucleotide variant |
Early infantile epileptic encephalopathy with suppression bursts [RCV003590059] |
Chr2:166036277 [GRCh38]
Chr2:166892787 [GRCh37]
Chr2:2q24.3 |
uncertain significance |
| NM_001165963.4(SCN1A):c.4427A>T (p.Asn1476Ile) |
single nucleotide variant |
Early infantile epileptic encephalopathy with suppression bursts [RCV003590086] |
Chr2:165998087 [GRCh38]
Chr2:166854597 [GRCh37]
Chr2:2q24.3 |
likely pathogenic |
| NM_001165963.4(SCN1A):c.747T>C (p.Asp249=) |
single nucleotide variant |
Early infantile epileptic encephalopathy with suppression bursts [RCV003590118] |
Chr2:166051936 [GRCh38]
Chr2:166908446 [GRCh37]
Chr2:2q24.3 |
likely benign |
| NM_001165963.4(SCN1A):c.3554G>A (p.Cys1185Tyr) |
single nucleotide variant |
Early infantile epileptic encephalopathy with suppression bursts [RCV003590120] |
Chr2:166013895 [GRCh38]
Chr2:166870405 [GRCh37]
Chr2:2q24.3 |
uncertain significance |
| NM_001165963.4(SCN1A):c.215T>C (p.Met72Thr) |
single nucleotide variant |
Early infantile epileptic encephalopathy with suppression bursts [RCV003590186] |
Chr2:166073407 [GRCh38]
Chr2:166929917 [GRCh37]
Chr2:2q24.3 |
uncertain significance |
| NM_001165963.4(SCN1A):c.2474A>G (p.Tyr825Cys) |
single nucleotide variant |
Early infantile epileptic encephalopathy with suppression bursts [RCV003590218] |
Chr2:166039538 [GRCh38]
Chr2:166896048 [GRCh37]
Chr2:2q24.3 |
uncertain significance |
| NM_001165963.4(SCN1A):c.5152T>C (p.Phe1718Leu) |
single nucleotide variant |
Early infantile epileptic encephalopathy with suppression bursts [RCV003590223] |
Chr2:165992123 [GRCh38]
Chr2:166848633 [GRCh37]
Chr2:2q24.3 |
uncertain significance |
| NM_001165963.4(SCN1A):c.3879+19T>C |
single nucleotide variant |
Early infantile epileptic encephalopathy with suppression bursts [RCV003588548] |
Chr2:166012090 [GRCh38]
Chr2:166868600 [GRCh37]
Chr2:2q24.3 |
likely benign |
| NM_001165963.4(SCN1A):c.2557G>A (p.Glu853Lys) |
single nucleotide variant |
Early infantile epileptic encephalopathy with suppression bursts [RCV003588464] |
Chr2:166039455 [GRCh38]
Chr2:166895965 [GRCh37]
Chr2:2q24.3 |
uncertain significance |
| NM_001165963.4(SCN1A):c.2738G>T (p.Gly913Val) |
single nucleotide variant |
Early infantile epileptic encephalopathy with suppression bursts [RCV003588399] |
Chr2:166037984 [GRCh38]
Chr2:166894494 [GRCh37]
Chr2:2q24.3 |
uncertain significance |
| NM_001165963.4(SCN1A):c.2120C>T (p.Pro707Leu) |
single nucleotide variant |
Early infantile epileptic encephalopathy with suppression bursts [RCV003590116] |
Chr2:166042348 [GRCh38]
Chr2:166898858 [GRCh37]
Chr2:2q24.3 |
uncertain significance |
| NM_001165963.4(SCN1A):c.1422T>G (p.Ser474Arg) |
single nucleotide variant |
Early infantile epileptic encephalopathy with suppression bursts [RCV003590136] |
Chr2:166045283 [GRCh38]
Chr2:166901793 [GRCh37]
Chr2:2q24.3 |
likely pathogenic |
| NM_001165963.4(SCN1A):c.3721T>G (p.Tyr1241Asp) |
single nucleotide variant |
Early infantile epileptic encephalopathy with suppression bursts [RCV003590212] |
Chr2:166012267 [GRCh38]
Chr2:166868777 [GRCh37]
Chr2:2q24.3 |
likely pathogenic |
| NM_001165963.4(SCN1A):c.1834del (p.Arg612fs) |
deletion |
Early infantile epileptic encephalopathy with suppression bursts [RCV003590261] |
Chr2:166043878 [GRCh38]
Chr2:166900388 [GRCh37]
Chr2:2q24.3 |
pathogenic |
| NM_001165963.4(SCN1A):c.3245C>A (p.Thr1082Asn) |
single nucleotide variant |
Early infantile epileptic encephalopathy with suppression bursts [RCV003589001] |
Chr2:166036232 [GRCh38]
Chr2:166892742 [GRCh37]
Chr2:2q24.3 |
uncertain significance |
| NM_001165963.4(SCN1A):c.5305T>C (p.Tyr1769His) |
single nucleotide variant |
Early infantile epileptic encephalopathy with suppression bursts [RCV003588454] |
Chr2:165991970 [GRCh38]
Chr2:166848480 [GRCh37]
Chr2:2q24.3 |
uncertain significance |
| NM_001165963.4(SCN1A):c.4507G>A (p.Glu1503Lys) |
single nucleotide variant |
Early infantile epileptic encephalopathy with suppression bursts [RCV003588456] |
Chr2:165996087 [GRCh38]
Chr2:166852597 [GRCh37]
Chr2:2q24.3 |
pathogenic |
| NM_001165963.4(SCN1A):c.1187G>A (p.Gly396Glu) |
single nucleotide variant |
Early infantile epileptic encephalopathy with suppression bursts [RCV003588467] |
Chr2:166046960 [GRCh38]
Chr2:166903470 [GRCh37]
Chr2:2q24.3 |
pathogenic |
| NM_001165963.4(SCN1A):c.799C>T (p.Gln267Ter) |
single nucleotide variant |
Early infantile epileptic encephalopathy with suppression bursts [RCV003588470] |
Chr2:166051884 [GRCh38]
Chr2:166908394 [GRCh37]
Chr2:2q24.3 |
pathogenic |
| NM_001165963.4(SCN1A):c.226C>A (p.Pro76Thr) |
single nucleotide variant |
Early infantile epileptic encephalopathy with suppression bursts [RCV003588475] |
Chr2:166073396 [GRCh38]
Chr2:166929906 [GRCh37]
Chr2:2q24.3 |
pathogenic |
| NM_001165963.4(SCN1A):c.5215C>G (p.Pro1739Ala) |
single nucleotide variant |
Early infantile epileptic encephalopathy with suppression bursts [RCV003590414] |
Chr2:165992060 [GRCh38]
Chr2:166848570 [GRCh37]
Chr2:2q24.3 |
uncertain significance |
| NM_001165963.4(SCN1A):c.2389A>G (p.Asn797Asp) |
single nucleotide variant |
Early infantile epileptic encephalopathy with suppression bursts [RCV003590369] |
Chr2:166041257 [GRCh38]
Chr2:166897767 [GRCh37]
Chr2:2q24.3 |
uncertain significance |
| NM_001165963.4(SCN1A):c.1967G>T (p.Gly656Val) |
single nucleotide variant |
Early infantile epileptic encephalopathy with suppression bursts [RCV003588529] |
Chr2:166043745 [GRCh38]
Chr2:166900255 [GRCh37]
Chr2:2q24.3 |
uncertain significance |
| NM_001165963.4(SCN1A):c.905G>T (p.Gly302Val) |
single nucleotide variant |
Early infantile epileptic encephalopathy with suppression bursts [RCV003588978] |
Chr2:166051778 [GRCh38]
Chr2:166908288 [GRCh37]
Chr2:2q24.3 |
uncertain significance |
| NM_001165963.4(SCN1A):c.2062G>A (p.Glu688Lys) |
single nucleotide variant |
Early infantile epileptic encephalopathy with suppression bursts [RCV003589223] |
Chr2:166042406 [GRCh38]
Chr2:166898916 [GRCh37]
Chr2:2q24.3 |
uncertain significance |
| NM_001165963.4(SCN1A):c.4540T>C (p.Leu1514=) |
single nucleotide variant |
Early infantile epileptic encephalopathy with suppression bursts [RCV003589238] |
Chr2:165996054 [GRCh38]
Chr2:166852564 [GRCh37]
Chr2:2q24.3 |
likely benign |
| NM_001165963.4(SCN1A):c.1229del (p.Gly410fs) |
deletion |
Early infantile epileptic encephalopathy with suppression bursts [RCV003590322] |
Chr2:166046918 [GRCh38]
Chr2:166903428 [GRCh37]
Chr2:2q24.3 |
pathogenic |
| NM_001165963.4(SCN1A):c.532T>C (p.Phe178Leu) |
single nucleotide variant |
Early infantile epileptic encephalopathy with suppression bursts [RCV003590499] |
Chr2:166054708 [GRCh38]
Chr2:166911218 [GRCh37]
Chr2:2q24.3 |
uncertain significance |
| NM_001165963.4(SCN1A):c.1039G>A (p.Glu347Lys) |
single nucleotide variant |
Early infantile epileptic encephalopathy with suppression bursts [RCV003590481] |
Chr2:166047758 [GRCh38]
Chr2:166904268 [GRCh37]
Chr2:2q24.3 |
uncertain significance |
| NM_001165963.4(SCN1A):c.2380G>C (p.Asp794His) |
single nucleotide variant |
Early infantile epileptic encephalopathy with suppression bursts [RCV003589066] |
Chr2:166041266 [GRCh38]
Chr2:166897776 [GRCh37]
Chr2:2q24.3 |
uncertain significance |
| NM_001165963.4(SCN1A):c.1088C>A (p.Thr363Lys) |
single nucleotide variant |
Early infantile epileptic encephalopathy with suppression bursts [RCV003590666] |
Chr2:166047709 [GRCh38]
Chr2:166904219 [GRCh37]
Chr2:2q24.3 |
uncertain significance |
| NM_001165963.4(SCN1A):c.1255C>T (p.Leu419=) |
single nucleotide variant |
Early infantile epileptic encephalopathy with suppression bursts [RCV003590736] |
Chr2:166046892 [GRCh38]
Chr2:166903402 [GRCh37]
Chr2:2q24.3 |
likely benign |
| NM_001165963.4(SCN1A):c.4037C>T (p.Ser1346Phe) |
single nucleotide variant |
Early infantile epileptic encephalopathy with suppression bursts [RCV003590767] |
Chr2:166002719 [GRCh38]
Chr2:166859229 [GRCh37]
Chr2:2q24.3 |
uncertain significance |
| NM_001165963.4(SCN1A):c.550A>G (p.Thr184Ala) |
single nucleotide variant |
Early infantile epileptic encephalopathy with suppression bursts [RCV003590813] |
Chr2:166054690 [GRCh38]
Chr2:166911200 [GRCh37]
Chr2:2q24.3 |
uncertain significance |
| NM_001165963.4(SCN1A):c.5128T>G (p.Phe1710Val) |
single nucleotide variant |
Early infantile epileptic encephalopathy with suppression bursts [RCV003589194] |
Chr2:165992147 [GRCh38]
Chr2:166848657 [GRCh37]
Chr2:2q24.3 |
uncertain significance |
| NM_001165963.4(SCN1A):c.1858A>T (p.Ser620Cys) |
single nucleotide variant |
Early infantile epileptic encephalopathy with suppression bursts [RCV003589219] |
Chr2:166043854 [GRCh38]
Chr2:166900364 [GRCh37]
Chr2:2q24.3 |
uncertain significance |
| NM_001165963.4(SCN1A):c.3126A>C (p.Gln1042His) |
single nucleotide variant |
Early infantile epileptic encephalopathy with suppression bursts [RCV003589230] |
Chr2:166036351 [GRCh38]
Chr2:166892861 [GRCh37]
Chr2:2q24.3 |
uncertain significance |
| NM_001165963.4(SCN1A):c.1191A>C (p.Lys397Asn) |
single nucleotide variant |
not provided [RCV003887246] |
Chr2:166046956 [GRCh38]
Chr2:166903466 [GRCh37]
Chr2:2q24.3 |
uncertain significance |
| NM_001165963.4(SCN1A):c.1178delinsTTAC (p.Arg393delinsLeuThr) |
indel |
Severe myoclonic epilepsy in infancy [RCV003988728] |
Chr2:166046969 [GRCh38]
Chr2:166903479 [GRCh37]
Chr2:2q24.3 |
pathogenic |
| NM_001165963.4(SCN1A):c.2432T>C (p.Phe811Ser) |
single nucleotide variant |
Severe myoclonic epilepsy in infancy [RCV003989079] |
Chr2:166039580 [GRCh38]
Chr2:166896090 [GRCh37] |
likely pathogenic |
| NM_001165963.4(SCN1A):c.265-2144A>G |
single nucleotide variant |
SCN1A-related condition [RCV003982602] |
Chr2:166060832 [GRCh38]
Chr2:166917342 [GRCh37]
Chr2:2q24.3 |
likely benign |
| NM_001165963.4(SCN1A):c.4942C>A (p.Arg1648Ser) |
single nucleotide variant |
SCN1A-related condition [RCV003983400] |
Chr2:165992333 [GRCh38]
Chr2:166848843 [GRCh37]
Chr2:2q24.3 |
uncertain significance |
| NM_001165963.4(SCN1A):c.4880A>T (p.Lys1627Met) |
single nucleotide variant |
Developmental and epileptic encephalopathy 6B [RCV003988171] |
Chr2:165992395 [GRCh38]
Chr2:166848905 [GRCh37]
Chr2:2q24.3 |
likely pathogenic |
| NM_001165963.4(SCN1A):c.980dup (p.Glu328fs) |
duplication |
Autosomal dominant epilepsy [RCV003988393] |
Chr2:166048933..166048934 [GRCh38]
Chr2:166905443..166905444 [GRCh37]
Chr2:2q24.3 |
pathogenic |
| NM_001165963.4(SCN1A):c.3498del (p.Gln1166fs) |
deletion |
Severe myoclonic epilepsy in infancy [RCV003989046] |
Chr2:166015659 [GRCh38]
Chr2:166872169 [GRCh37] |
likely pathogenic |
| NM_001165963.4(SCN1A):c.1048_1049del (p.Met350fs) |
microsatellite |
SCN1A-related condition [RCV003971405] |
Chr2:166047748..166047749 [GRCh38]
Chr2:166904258..166904259 [GRCh37]
Chr2:2q24.3 |
pathogenic |
| NM_001165963.4(SCN1A):c.761C>T (p.Thr254Ile) |
single nucleotide variant |
Severe myoclonic epilepsy in infancy [RCV003338129] |
Chr2:166051922 [GRCh38]
Chr2:166908432 [GRCh37]
Chr2:2q24.3 |
uncertain significance |
| NM_001165963.4(SCN1A):c.5176T>A (p.Trp1726Arg) |
single nucleotide variant |
Developmental and epileptic encephalopathy 6B [RCV003337922] |
Chr2:165992099 [GRCh38]
Chr2:166848609 [GRCh37]
Chr2:2q24.3 |
likely pathogenic |
