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Spasms, Infantile (D013036)
..Starting node
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EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 53 (OMIM:617389)

       Child Nodes:



 Sister Nodes: 
..expandConvulsions, Benign Familial Infantile, 2 (C565296)
..expandEpileptic Encephalopathy, Early Infantile, 1 (C567924)
..expandEPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 11 (OMIM:613721)
..expandEPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 12 (OMIM:613722)
..expandEPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 13 (OMIM:614558)
..expandEPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 14 (OMIM:614959)
..expandEPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 17 (OMIM:615473)
..expandEPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 18 (OMIM:615476)
..expandEPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 19 (OMIM:615744)
..expandEpileptic Encephalopathy, Early Infantile, 2 (C564064)
..expandEPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 21 (OMIM:615833)
..expandEPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 23 (OMIM:615859)
..expandEPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 24 (OMIM:615871)
..expandEPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 25 (OMIM:615905)
..expandEPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 26 (OMIM:616056)
..expandEPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 27 (OMIM:616139)
..expandEPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 28 (OMIM:616211)
..expandEPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 29 (OMIM:616339)
..expandEpileptic Encephalopathy, Early Infantile, 3 (C562695)  LSDB  L: 00103;
..expandEPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 30 (OMIM:616341)
..expandEPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 31 (OMIM:616346)
..expandEPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 32 (OMIM:616366)
..expandEPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 33 (OMIM:616409)
..expandEPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 34 (OMIM:616645)
..expandEPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 35 (OMIM:616647)
..expandEPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 36 (OMIM:300884)
..expandEPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 37 (OMIM:616981)
..expandEPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 38 (OMIM:617020)
..expandEpileptic Encephalopathy, Early Infantile, 4 (C567404)
..expandEPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 40 (OMIM:617065)
..expandEPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 41 (OMIM:617105)
..expandEPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 42 (OMIM:617106)
..expandEPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 43 (OMIM:617113)
..expandEPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 44 (OMIM:617132)
..expandEPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 45 (OMIM:617153)
..expandEPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 46 (OMIM:617162)
..expandEPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 47 (OMIM:617166)
..expandEPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 48 (OMIM:617276)
..expandEPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 49 (OMIM:617281)
..expandEPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 5 (OMIM:613477)
..expandEPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 50 (OMIM:616457)
..expandEPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 51 (OMIM:617339)
..expandEPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 52 (OMIM:617350)
..expandEPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 53 (OMIM:617389)
..expandEPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 54 (OMIM:617391)
..expandEPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 7 (OMIM:613720)
..expandMicrocephaly, corpus callosum dysgenesis and cleft lip-palate (C537547)
..expandNorrie disease (C537849)
..expandPEHO syndrome (C536317)
   

Human Disease MESH is developed by UMLS.
Further data from MedGen, OMIM,ClinVar, CTD
Term ID:4334
Name:EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 53
Definition:
Alternative IDs:
ParentIDs:MESH:D013036
TreeNumbers:C10.228.140.490.375.760/617389 |C10.228.140.490.493.875/617389
Synonyms:EIEE53
Slim Mappings:Nervous system disease
Reference: MedGen: 617389
MeSH: 617389
OMIM: 617389;
MSeqDR LSDB:  
Genes:
Phenotypes
1 HP:0000007Autosomal recessive inheritance
2 HP:0003236Elevated serum creatine phosphokinase
3 HP:0200134Epileptic encephalopathy
4 HP:0011968Feeding difficulties
5 HP:0001290Generalized hypotonia
6 HP:0002079Hypoplasia of the corpus callosum
7 HP:0002151Increased serum lactate
8 HP:0002187Intellectual disability, profound
9 HP:0002344Progressive neurologic deterioration
10 HP:0002510Spastic tetraplegia
11 HP:0002133Status epilepticus
Disease Causing ClinVar Variants
Variation_NameGeneIDGeneSymbolClinicalSignificancedbSNPRCVaccessionTestedInGTRPhenotypeIDsChromosomeStartStopHGVS_cHGVS_pHGVS_gOtherIDsDisease_ClinVar
NC_000021.8:g.(?_33974153)_(34074377_?)dup8867SYNJ1Uncertain significance-1RCV000708396; NMONDO:MONDO:0033362,MedGen:C4479313,OMIM:617389; MONDO:MONDO:0014233,MedGen:C3809824,OMIM:615530, Orphanet:391411213397415334074377nana-
NC_000021.9:g.(?_32601843)_(32634904_?)dup8867SYNJ1Uncertain significance-1RCV001033655; NMONDO:MONDO:0033362,MedGen:C4479313,OMIM:617389; MONDO:MONDO:0014233,MedGen:C3809824,OMIM:615530, Orphanet:391411213397415334007214nana-1-
NC_000021.8:g.(?_34000069)_(34101351_?)dup8867SYNJ1Uncertain significance-1RCV001033279; NMONDO:MONDO:0033362,MedGen:C4479313,OMIM:617389; MONDO:MONDO:0014233,MedGen:C3809824,OMIM:615530, Orphanet:391411213400006934101351nana-1-
NM_203446.3(SYNJ1):c.*807A>G8867SYNJ1Uncertain significance-1RCV001064670; NMONDO:MONDO:0033362,MedGen:C4479313,OMIM:617389; MONDO:MONDO:0014233,MedGen:C3809824,OMIM:615530, Orphanet:391411213400330834003308TC21:g.34003308T>C-
NM_203446.3(SYNJ1):c.*806G>A8867SYNJ1Uncertain significance-1RCV001224896; NMONDO:MONDO:0033362,MedGen:C4479313,OMIM:617389; MONDO:MONDO:0014233,MedGen:C3809824,OMIM:615530, Orphanet:391411213400330934003309CT21:g.34003309C>T-
NM_203446.3(SYNJ1):c.*806G>C8867SYNJ1Uncertain significance-1RCV001238755; NMONDO:MONDO:0033362,MedGen:C4479313,OMIM:617389; MONDO:MONDO:0014233,MedGen:C3809824,OMIM:615530, Orphanet:391411213400330934003309CG21:g.34003309C>G-
NM_203446.3(SYNJ1):c.*770C>T8867SYNJ1Uncertain significance-1RCV001070167; NMONDO:MONDO:0033362,MedGen:C4479313,OMIM:617389; MONDO:MONDO:0014233,MedGen:C3809824,OMIM:615530, Orphanet:391411213400334534003345GA21:g.34003345G>A-
NM_003895.3(SYNJ1):c.4796T>G (p.Leu1599Trp)8867SYNJ1Uncertain significancers764949465RCV000791696; NMONDO:MONDO:0033362,MedGen:C4479313,OMIM:617389; MONDO:MONDO:0014233,MedGen:C3809824,OMIM:615530, Orphanet:391411213400334834003348AC21:g.34003348A>C-
NM_203446.3(SYNJ1):c.*763A>G8867SYNJ1Uncertain significance-1RCV001240169; NMONDO:MONDO:0033362,MedGen:C4479313,OMIM:617389; MONDO:MONDO:0014233,MedGen:C3809824,OMIM:615530, Orphanet:391411213400335234003352TC21:g.34003352T>C-
NM_003895.3(SYNJ1):c.4790C>T (p.Thr1597Met)8867SYNJ1Likely benignrs111516740RCV000558151; NMONDO:MONDO:0033362,MedGen:C4479313,OMIM:617389; MONDO:MONDO:0014233,MedGen:C3809824,OMIM:615530, Orphanet:391411213400335434003354GA21:g.34003354G>AClinGen:CA10003043
NM_003895.3(SYNJ1):c.4767C>T (p.Thr1589=)8867SYNJ1Likely benignrs747245690RCV000655785; NMONDO:MONDO:0033362,MedGen:C4479313,OMIM:617389; MONDO:MONDO:0014233,MedGen:C3809824,OMIM:615530, Orphanet:391411213400337734003377GA21:g.34003377G>AClinGen:CA10003049C4479313 617389 Epileptic encephalopathy, early infantile, 53;
NM_203446.3(SYNJ1):c.*737C>G8867SYNJ1Uncertain significance-1RCV001220175; NMONDO:MONDO:0033362,MedGen:C4479313,OMIM:617389; MONDO:MONDO:0014233,MedGen:C3809824,OMIM:615530, Orphanet:391411213400337834003378GC21:g.34003378G>C-
NM_203446.3(SYNJ1):c.*733G>A8867SYNJ1Uncertain significance-1RCV001217726; NMONDO:MONDO:0033362,MedGen:C4479313,OMIM:617389; MONDO:MONDO:0014233,MedGen:C3809824,OMIM:615530, Orphanet:391411213400338234003382CT21:g.34003382C>T-
NM_203446.3(SYNJ1):c.*732C>T8867SYNJ1Benignrs148676465RCV000964602; NMONDO:MONDO:0033362,MedGen:C4479313,OMIM:617389; MONDO:MONDO:0014233,MedGen:C3809824,OMIM:615530, Orphanet:391411213400338334003383GA21:g.34003383G>A-
NM_003895.3(SYNJ1):c.4757C>T (p.Pro1586Leu)8867SYNJ1Likely benignrs2230767RCV000713734|RCV001084764; NMedGen:CN517202|MONDO:MONDO:0033362,MedGen:C4479313,OMIM:617389; MONDO:MONDO:0014233,MedGen:C3809824,OMIM:615530, Orphanet:391411213400338734003387GA21:g.34003387G>AClinGen:CA10003055
NM_203446.3(SYNJ1):c.*719CT[1]8867SYNJ1Uncertain significance-1RCV001228026; NMONDO:MONDO:0033362,MedGen:C4479313,OMIM:617389; MONDO:MONDO:0014233,MedGen:C3809824,OMIM:615530, Orphanet:391411213400339334003394CAGC21:g.34003393_34003394del-
NM_203446.3(SYNJ1):c.*712C>T8867SYNJ1Uncertain significance-1RCV001059547; NMONDO:MONDO:0033362,MedGen:C4479313,OMIM:617389; MONDO:MONDO:0014233,MedGen:C3809824,OMIM:615530, Orphanet:391411213400340334003403GA21:g.34003403G>A-
NM_203446.3(SYNJ1):c.*709C>T8867SYNJ1Uncertain significance-1RCV001223989; NMONDO:MONDO:0033362,MedGen:C4479313,OMIM:617389; MONDO:MONDO:0014233,MedGen:C3809824,OMIM:615530, Orphanet:391411213400340634003406GA21:g.34003406G>A-
NM_203446.3(SYNJ1):c.*704C>G8867SYNJ1Uncertain significance-1RCV001225929; NMONDO:MONDO:0033362,MedGen:C4479313,OMIM:617389; MONDO:MONDO:0014233,MedGen:C3809824,OMIM:615530, Orphanet:391411213400341134003411GC21:g.34003411G>C-
NM_203446.3(SYNJ1):c.*689C>T8867SYNJ1Uncertain significance-1RCV001215449; NMONDO:MONDO:0033362,MedGen:C4479313,OMIM:617389; MONDO:MONDO:0014233,MedGen:C3809824,OMIM:615530, Orphanet:391411213400342634003426GA21:g.34003426G>A-
NM_203446.3(SYNJ1):c.*677_*679del8867SYNJ1Likely benignrs528030561RCV000879439; NMONDO:MONDO:0033362,MedGen:C4479313,OMIM:617389; MONDO:MONDO:0014233,MedGen:C3809824,OMIM:615530, Orphanet:391411213400343634003438CAGAC21:g.34003436_34003438del-
NM_003895.3(SYNJ1):c.4707C>G (p.Phe1569Leu)8867SYNJ1Uncertain significancers760299495RCV000820638; NMONDO:MONDO:0033362,MedGen:C4479313,OMIM:617389; MONDO:MONDO:0014233,MedGen:C3809824,OMIM:615530, Orphanet:391411213400343734003437GC21:g.34003437G>C-
NM_203446.3(SYNJ1):c.*676T>C8867SYNJ1Uncertain significance-1RCV001214034; NMONDO:MONDO:0033362,MedGen:C4479313,OMIM:617389; MONDO:MONDO:0014233,MedGen:C3809824,OMIM:615530, Orphanet:391411213400343934003439AG21:g.34003439A>G-
NM_003895.3(SYNJ1):c.4695A>G (p.Thr1565=)8867SYNJ1Uncertain significancers763776246RCV000813890; NMONDO:MONDO:0033362,MedGen:C4479313,OMIM:617389; MONDO:MONDO:0014233,MedGen:C3809824,OMIM:615530, Orphanet:391411213400344934003449TC21:g.34003449T>C-
NM_203446.3(SYNJ1):c.*638C>T8867SYNJ1Uncertain significance-1RCV001056699; NMONDO:MONDO:0033362,MedGen:C4479313,OMIM:617389; MONDO:MONDO:0014233,MedGen:C3809824,OMIM:615530, Orphanet:391411213400347734003477GA21:g.34003477G>A-
NM_203446.3(SYNJ1):c.*618A>G8867SYNJ1Likely benignrs139212871RCV000946037; NMONDO:MONDO:0033362,MedGen:C4479313,OMIM:617389; MONDO:MONDO:0014233,MedGen:C3809824,OMIM:615530, Orphanet:391411213400349734003497TC21:g.34003497T>C-
NM_003895.3(SYNJ1):c.4642A>G (p.Ser1548Gly)8867SYNJ1Uncertain significancers769954720RCV000694869; NMONDO:MONDO:0033362,MedGen:C4479313,OMIM:617389; MONDO:MONDO:0014233,MedGen:C3809824,OMIM:615530, Orphanet:391411213400350234003502TC21:g.34003502T>C-C4479313 617389 Epileptic encephalopathy, early infantile, 53;
NM_203446.3(SYNJ1):c.*613A>C8867SYNJ1Uncertain significance-1RCV001229156; NMONDO:MONDO:0033362,MedGen:C4479313,OMIM:617389; MONDO:MONDO:0014233,MedGen:C3809824,OMIM:615530, Orphanet:391411213400350234003502TG21:g.34003502T>G-
NM_003895.3(SYNJ1):c.4640C>T (p.Pro1547Leu)8867SYNJ1Benignrs76056543RCV000713733|RCV001082702; NMedGen:CN517202|MONDO:MONDO:0033362,MedGen:C4479313,OMIM:617389; MONDO:MONDO:0014233,MedGen:C3809824,OMIM:615530, Orphanet:391411213400350434003504GA21:g.34003504G>AClinGen:CA10003077
NM_203446.3(SYNJ1):c.*602G>A8867SYNJ1Uncertain significance-1RCV001223988; NMONDO:MONDO:0033362,MedGen:C4479313,OMIM:617389; MONDO:MONDO:0014233,MedGen:C3809824,OMIM:615530, Orphanet:391411213400351334003513CT21:g.34003513C>T-
NM_203446.3(SYNJ1):c.*576_*584del8867SYNJ1Uncertain significance-1RCV001037484; NMONDO:MONDO:0033362,MedGen:C4479313,OMIM:617389; MONDO:MONDO:0014233,MedGen:C3809824,OMIM:615530, Orphanet:391411213400353134003539AGCTGACTTTA21:g.34003531_34003539del-
NM_003895.3(SYNJ1):c.4603T>A (p.Ser1535Thr)8867SYNJ1Uncertain significancers138122167RCV000552863; NMONDO:MONDO:0033362,MedGen:C4479313,OMIM:617389; MONDO:MONDO:0014233,MedGen:C3809824,OMIM:615530, Orphanet:391411213400354134003541AT21:g.34003541A>TClinGen:CA319449810
NM_003895.3(SYNJ1):c.4581G>A (p.Glu1527=)8867SYNJ1Likely benignrs146425050RCV000544822|RCV001171960; NMONDO:MONDO:0033362,MedGen:C4479313,OMIM:617389; MONDO:MONDO:0014233,MedGen:C3809824,OMIM:615530, Orphanet:391411|MedGen:CN517202213400356334003563CT21:g.34003563C>TClinGen:CA10003094
NM_203446.3(SYNJ1):c.*541G>A8867SYNJ1Uncertain significance-1RCV001235644; NMONDO:MONDO:0033362,MedGen:C4479313,OMIM:617389; MONDO:MONDO:0014233,MedGen:C3809824,OMIM:615530, Orphanet:391411213400357434003574CT21:g.34003574C>T-
NM_003895.3(SYNJ1):c.4551G>A (p.Pro1517=)8867SYNJ1Likely benignrs777945782RCV000532497; NMONDO:MONDO:0033362,MedGen:C4479313,OMIM:617389; MONDO:MONDO:0014233,MedGen:C3809824,OMIM:615530, Orphanet:391411213400359334003593CT21:g.34003593C>TClinGen:CA10003097
NM_003895.3(SYNJ1):c.4550C>G (p.Pro1517Arg)8867SYNJ1Uncertain significancers749527882RCV000655769; NMONDO:MONDO:0033362,MedGen:C4479313,OMIM:617389; MONDO:MONDO:0014233,MedGen:C3809824,OMIM:615530, Orphanet:391411213400359434003594GC21:g.34003594G>CClinGen:CA10003099
NM_003895.3(SYNJ1):c.4520A>C (p.Gln1507Pro)8867SYNJ1Uncertain significancers776115769RCV000801905; NMONDO:MONDO:0033362,MedGen:C4479313,OMIM:617389; MONDO:MONDO:0014233,MedGen:C3809824,OMIM:615530, Orphanet:391411213400362434003624TG21:g.34003624T>G-
NM_203446.3(SYNJ1):c.*485A>T8867SYNJ1Uncertain significance-1RCV001241242; NMONDO:MONDO:0033362,MedGen:C4479313,OMIM:617389; MONDO:MONDO:0014233,MedGen:C3809824,OMIM:615530, Orphanet:391411213400363034003630TA21:g.34003630T>A-
NM_203446.3(SYNJ1):c.*469T>C8867SYNJ1Uncertain significance-1RCV001218963; NMONDO:MONDO:0033362,MedGen:C4479313,OMIM:617389; MONDO:MONDO:0014233,MedGen:C3809824,OMIM:615530, Orphanet:391411213400364634003646AG21:g.34003646A>G-
NM_203446.3(SYNJ1):c.*442A>G8867SYNJ1Uncertain significance-1RCV001069861; NMONDO:MONDO:0033362,MedGen:C4479313,OMIM:617389; MONDO:MONDO:0014233,MedGen:C3809824,OMIM:615530, Orphanet:391411213400367334003673TC21:g.34003673T>C-
NM_203446.3(SYNJ1):c.*412C>G8867SYNJ1Uncertain significance-1RCV001235592; NMONDO:MONDO:0033362,MedGen:C4479313,OMIM:617389; MONDO:MONDO:0014233,MedGen:C3809824,OMIM:615530, Orphanet:391411213400370334003703GC21:g.34003703G>C-
NM_203446.3(SYNJ1):c.*333C>T8867SYNJ1Likely benignrs548047319RCV000901758; NMONDO:MONDO:0033362,MedGen:C4479313,OMIM:617389; MONDO:MONDO:0014233,MedGen:C3809824,OMIM:615530, Orphanet:391411213400378234003782GA21:g.34003782G>A-
NM_003895.3(SYNJ1):c.4358G>A (p.Gly1453Glu)8867SYNJ1Benignrs61750217RCV000556286|RCV000713732; NMONDO:MONDO:0033362,MedGen:C4479313,OMIM:617389; MONDO:MONDO:0014233,MedGen:C3809824,OMIM:615530, Orphanet:391411|MedGen:CN517202213400378634003786CT21:g.34003786C>TClinGen:CA10003130
NM_203446.2(SYNJ1):c.*316del8867SYNJ1Uncertain significancers1569014970RCV000692154; NMONDO:MONDO:0033362,MedGen:C4479313,OMIM:617389; MONDO:MONDO:0014233,MedGen:C3809824,OMIM:615530, Orphanet:391411213400379934003799GTG21:g.34003799_34003799del-C4479313 617389 Epileptic encephalopathy, early infantile, 53;
NM_003895.3(SYNJ1):c.4344G>A (p.Arg1448=)8867SYNJ1Benignrs145347648RCV000655783; NMONDO:MONDO:0033362,MedGen:C4479313,OMIM:617389; MONDO:MONDO:0014233,MedGen:C3809824,OMIM:615530, Orphanet:391411213400380034003800CT21:g.34003800C>TClinGen:CA10003133C4479313 617389 Epileptic encephalopathy, early infantile, 53;
NM_003895.3(SYNJ1):c.4341C>T (p.Asp1447=)8867SYNJ1Likely benignrs149199429RCV000655775; NMONDO:MONDO:0033362,MedGen:C4479313,OMIM:617389; MONDO:MONDO:0014233,MedGen:C3809824,OMIM:615530, Orphanet:391411213400380334003803GA21:g.34003803G>AClinGen:CA10003134
NM_003895.3(SYNJ1):c.4286G>T (p.Arg1429Leu)8867SYNJ1Uncertain significancers112469776RCV000811994; NMONDO:MONDO:0033362,MedGen:C4479313,OMIM:617389; MONDO:MONDO:0014233,MedGen:C3809824,OMIM:615530, Orphanet:391411213400385834003858CA21:g.34003858C>A-
NM_203446.3(SYNJ1):c.*256C>T8867SYNJ1Uncertain significance-1RCV001052068; NMONDO:MONDO:0033362,MedGen:C4479313,OMIM:617389; MONDO:MONDO:0014233,MedGen:C3809824,OMIM:615530, Orphanet:391411213400385934003859GA21:g.34003859G>A-
NM_003895.3(SYNJ1):c.4282A>G (p.Met1428Val)8867SYNJ1Uncertain significancers1398328287RCV000791575; NMONDO:MONDO:0033362,MedGen:C4479313,OMIM:617389; MONDO:MONDO:0014233,MedGen:C3809824,OMIM:615530, Orphanet:391411213400386234003862TC21:g.34003862T>C-
NM_203446.3(SYNJ1):c.*235A>C8867SYNJ1Uncertain significance-1RCV001067626; NMONDO:MONDO:0033362,MedGen:C4479313,OMIM:617389; MONDO:MONDO:0014233,MedGen:C3809824,OMIM:615530, Orphanet:391411213400388034003880TG21:g.34003880T>G-
NM_003895.3(SYNJ1):c.4263G>T (p.Arg1421=)8867SYNJ1Likely benignrs777299829RCV000538312; NMONDO:MONDO:0033362,MedGen:C4479313,OMIM:617389; MONDO:MONDO:0014233,MedGen:C3809824,OMIM:615530, Orphanet:391411213400388134003881CA21:g.34003881C>AClinGen:CA10003149C4479313 617389 Epileptic encephalopathy, early infantile, 53;
NM_003895.3(SYNJ1):c.4262G>A (p.Arg1421Gln)8867SYNJ1Uncertain significancers765410501RCV000818809; NMONDO:MONDO:0033362,MedGen:C4479313,OMIM:617389; MONDO:MONDO:0014233,MedGen:C3809824,OMIM:615530, Orphanet:391411213400388234003882CT21:g.34003882C>T-
NM_003895.3(SYNJ1):c.4252A>G (p.Ile1418Val)8867SYNJ1Likely benignrs113978322RCV000525739; NMONDO:MONDO:0033362,MedGen:C4479313,OMIM:617389; MONDO:MONDO:0014233,MedGen:C3809824,OMIM:615530, Orphanet:391411213400389234003892TC21:g.34003892T>CClinGen:CA10003154
NM_003895.3(SYNJ1):c.4241C>T (p.Thr1414Ile)8867SYNJ1Uncertain significancers754791304RCV000690136; NMONDO:MONDO:0033362,MedGen:C4479313,OMIM:617389; MONDO:MONDO:0014233,MedGen:C3809824,OMIM:615530, Orphanet:391411213400390334003903GA21:g.34003903G>A-
NM_003895.3(SYNJ1):c.4217T>C (p.Leu1406Ser)8867SYNJ1Uncertain significancers866258846RCV000655749; NMONDO:MONDO:0033362,MedGen:C4479313,OMIM:617389; MONDO:MONDO:0014233,MedGen:C3809824,OMIM:615530, Orphanet:391411213400392734003927AG21:g.34003927A>GClinGen:CA319450227
NM_003895.3(SYNJ1):c.4215_4216insAATAC (p.Leu1406fs)8867SYNJ1Benignrs869265580RCV000655773; NMONDO:MONDO:0033362,MedGen:C4479313,OMIM:617389; MONDO:MONDO:0014233,MedGen:C3809824,OMIM:615530, Orphanet:391411213400392834003929AAGTATT21:g.34003928_34003929insGTATTClinGen:CA10003163
NM_203446.3(SYNJ1):c.*186_*187insATTACT8867SYNJ1Uncertain significance-1RCV001049561; NMONDO:MONDO:0033362,MedGen:C4479313,OMIM:617389; MONDO:MONDO:0014233,MedGen:C3809824,OMIM:615530, Orphanet:391411213400392834003929AAAGTAAT21:g.34003928_34003929insAGTAAT-
NM_003895.3(SYNJ1):c.4202C>T (p.Thr1401Met)8867SYNJ1Uncertain significancers1341548536RCV000554414; NMONDO:MONDO:0033362,MedGen:C4479313,OMIM:617389; MONDO:MONDO:0014233,MedGen:C3809824,OMIM:615530, Orphanet:391411213400394234003942GA21:g.34003942G>AClinGen:CA410082740C4479313 617389 Epileptic encephalopathy, early infantile, 53;
NM_203446.3(SYNJ1):c.*158A>G8867SYNJ1Uncertain significance-1RCV001221067; NMONDO:MONDO:0033362,MedGen:C4479313,OMIM:617389; MONDO:MONDO:0014233,MedGen:C3809824,OMIM:615530, Orphanet:391411213400395734003957TC21:g.34003957T>C-
NM_003895.3(SYNJ1):c.4156G>C (p.Val1386Leu)8867SYNJ1Uncertain significancers1342453394RCV000820012; NMONDO:MONDO:0033362,MedGen:C4479313,OMIM:617389; MONDO:MONDO:0014233,MedGen:C3809824,OMIM:615530, Orphanet:391411213400398834003988CG21:g.34003988C>G-
NM_203446.3(SYNJ1):c.*124C>T8867SYNJ1Uncertain significance-1RCV001209325; NMONDO:MONDO:0033362,MedGen:C4479313,OMIM:617389; MONDO:MONDO:0014233,MedGen:C3809824,OMIM:615530, Orphanet:391411213400399134003991GA21:g.34003991G>A-
NM_203446.3(SYNJ1):c.*108A>G8867SYNJ1Likely benignrs371381727RCV000983377; NMONDO:MONDO:0033362,MedGen:C4479313,OMIM:617389; MONDO:MONDO:0014233,MedGen:C3809824,OMIM:615530, Orphanet:391411213400400734004007TC21:g.34004007T>C-
NM_203446.3(SYNJ1):c.*100G>T8867SYNJ1Uncertain significance-1RCV001227067; NMONDO:MONDO:0033362,MedGen:C4479313,OMIM:617389; MONDO:MONDO:0014233,MedGen:C3809824,OMIM:615530, Orphanet:391411213400401534004015CA21:g.34004015C>A-
NM_003895.3(SYNJ1):c.4033G>A (p.Val1345Ile)8867SYNJ1Likely benignrs115648918RCV000541804; NMONDO:MONDO:0033362,MedGen:C4479313,OMIM:617389; MONDO:MONDO:0014233,MedGen:C3809824,OMIM:615530, Orphanet:391411213400411134004111CT21:g.34004111C>TClinGen:CA10003187
NM_003895.3(SYNJ1):c.4032+5G>T8867SYNJ1Benignrs61750220RCV000713730|RCV001079280; NMedGen:CN517202|MONDO:MONDO:0033362,MedGen:C4479313,OMIM:617389; MONDO:MONDO:0014233,MedGen:C3809824,OMIM:615530, Orphanet:391411213401121334011213CA21:g.34011213C>AClinGen:CA10003221
NM_203446.3(SYNJ1):c.3915+5G>A8867SYNJ1Uncertain significance-1RCV001059422; NMONDO:MONDO:0033362,MedGen:C4479313,OMIM:617389; MONDO:MONDO:0014233,MedGen:C3809824,OMIM:615530, Orphanet:391411213401121334011213CT21:g.34011213C>T-
NM_003895.3(SYNJ1):c.4029G>A (p.Pro1343=)8867SYNJ1Likely benignrs372695378RCV000655784; NMONDO:MONDO:0033362,MedGen:C4479313,OMIM:617389; MONDO:MONDO:0014233,MedGen:C3809824,OMIM:615530, Orphanet:391411213401122134011221CT21:g.34011221C>TClinGen:CA10003223
NM_003895.3(SYNJ1):c.4025A>G (p.Gln1342Arg)8867SYNJ1Uncertain significancers546986773RCV000655759; NMONDO:MONDO:0033362,MedGen:C4479313,OMIM:617389; MONDO:MONDO:0014233,MedGen:C3809824,OMIM:615530, Orphanet:391411213401122534011225TC21:g.34011225T>CClinGen:CA10003226C4479313 617389 Epileptic encephalopathy, early infantile, 53;
NM_003895.3(SYNJ1):c.3999T>G (p.His1333Gln)8867SYNJ1Uncertain significancers1569025711RCV000699190; NMONDO:MONDO:0033362,MedGen:C4479313,OMIM:617389; MONDO:MONDO:0014233,MedGen:C3809824,OMIM:615530, Orphanet:391411213401125134011251AC21:g.34011251A>C-C4479313 617389 Epileptic encephalopathy, early infantile, 53;
NM_003895.3(SYNJ1):c.3954T>A (p.Asn1318Lys)8867SYNJ1Uncertain significancers1555888329RCV000655764; NMONDO:MONDO:0033362,MedGen:C4479313,OMIM:617389; MONDO:MONDO:0014233,MedGen:C3809824,OMIM:615530, Orphanet:391411213401129634011296AT21:g.34011296A>TClinGen:CA410086736C4479313 617389 Epileptic encephalopathy, early infantile, 53;
NM_003895.3(SYNJ1):c.3946dup (p.Gln1316fs)8867SYNJ1Uncertain significancers1555888341RCV000655760; NMONDO:MONDO:0033362,MedGen:C4479313,OMIM:617389; MONDO:MONDO:0014233,MedGen:C3809824,OMIM:615530, Orphanet:391411213401130334011304TTG21:g.34011303_34011304insGClinGen:CA658799407
NM_003895.3(SYNJ1):c.3940G>A (p.Gly1314Ser)8867SYNJ1Uncertain significancers1601231173RCV000815572; NMONDO:MONDO:0033362,MedGen:C4479313,OMIM:617389; MONDO:MONDO:0014233,MedGen:C3809824,OMIM:615530, Orphanet:391411213401131034011310CT21:g.34011310C>T-
NM_003895.3(SYNJ1):c.3928A>G (p.Met1310Val)8867SYNJ1Uncertain significancers751069566RCV000655758; NMONDO:MONDO:0033362,MedGen:C4479313,OMIM:617389; MONDO:MONDO:0014233,MedGen:C3809824,OMIM:615530, Orphanet:391411213401132234011322TC21:g.34011322T>CClinGen:CA10003243C4479313 617389 Epileptic encephalopathy, early infantile, 53;
NM_003895.3(SYNJ1):c.3920C>T (p.Ala1307Val)8867SYNJ1Uncertain significancers1601231363RCV000813037; NMONDO:MONDO:0033362,MedGen:C4479313,OMIM:617389; MONDO:MONDO:0014233,MedGen:C3809824,OMIM:615530, Orphanet:391411213401133034011330GA21:g.34011330G>A-
NM_003895.3(SYNJ1):c.3914C>G (p.Pro1305Arg)8867SYNJ1Uncertain significancers767170641RCV000699952; NMONDO:MONDO:0033362,MedGen:C4479313,OMIM:617389; MONDO:MONDO:0014233,MedGen:C3809824,OMIM:615530, Orphanet:391411213401133634011336GC21:g.34011336G>C-C4479313 617389 Epileptic encephalopathy, early infantile, 53;
NM_203446.3(SYNJ1):c.3780G>T (p.Leu1260Phe)8867SYNJ1Uncertain significance-1RCV001203719; NMONDO:MONDO:0033362,MedGen:C4479313,OMIM:617389; MONDO:MONDO:0014233,MedGen:C3809824,OMIM:615530, Orphanet:391411213401135334011353CA21:g.34011353C>A-
NM_003895.3(SYNJ1):c.3884C>T (p.Pro1295Leu)8867SYNJ1Uncertain significancers147025577RCV000692074; NMONDO:MONDO:0033362,MedGen:C4479313,OMIM:617389; MONDO:MONDO:0014233,MedGen:C3809824,OMIM:615530, Orphanet:391411213401136634011366GA21:g.34011366G>A-
NM_203446.3(SYNJ1):c.3764C>T (p.Pro1255Leu)8867SYNJ1Uncertain significance-1RCV001210832; NMONDO:MONDO:0033362,MedGen:C4479313,OMIM:617389; MONDO:MONDO:0014233,MedGen:C3809824,OMIM:615530, Orphanet:391411213401136934011369GA21:g.34011369G>A-
NM_003895.3(SYNJ1):c.3879C>T (p.Pro1293=)8867SYNJ1Likely benignrs201117151RCV000524929; NMONDO:MONDO:0033362,MedGen:C4479313,OMIM:617389; MONDO:MONDO:0014233,MedGen:C3809824,OMIM:615530, Orphanet:391411213401137134011371GA21:g.34011371G>AClinGen:CA10003258
NM_003895.3(SYNJ1):c.3864G>T (p.Pro1288=)8867SYNJ1Likely benignrs138579227RCV000655786; NMONDO:MONDO:0033362,MedGen:C4479313,OMIM:617389; MONDO:MONDO:0014233,MedGen:C3809824,OMIM:615530, Orphanet:391411213401138634011386CA21:g.34011386C>AClinGen:CA10003263C4479313 617389 Epileptic encephalopathy, early infantile, 53;
NM_203446.3(SYNJ1):c.3747G>A (p.Pro1249=)8867SYNJ1Likely benignrs138579227RCV000917819; NMONDO:MONDO:0033362,MedGen:C4479313,OMIM:617389; MONDO:MONDO:0014233,MedGen:C3809824,OMIM:615530, Orphanet:391411213401138634011386CT21:g.34011386C>T-
NM_003895.3(SYNJ1):c.3863C>T (p.Pro1288Leu)8867SYNJ1Uncertain significancers149288077RCV000687228; NMONDO:MONDO:0033362,MedGen:C4479313,OMIM:617389; MONDO:MONDO:0014233,MedGen:C3809824,OMIM:615530, Orphanet:391411213401138734011387GA21:g.34011387G>A-C4479313 617389 Epileptic encephalopathy, early infantile, 53;
NM_003895.3(SYNJ1):c.3839T>C (p.Leu1280Pro)8867SYNJ1Uncertain significancers548516848RCV000548786; NMONDO:MONDO:0033362,MedGen:C4479313,OMIM:617389; MONDO:MONDO:0014233,MedGen:C3809824,OMIM:615530, Orphanet:391411213401141134011411AG21:g.34011411A>GClinGen:CA10003267C4479313 617389 Epileptic encephalopathy, early infantile, 53;
NM_003895.3(SYNJ1):c.3808T>C (p.Ser1270Pro)8867SYNJ1Uncertain significancers767695759RCV000540996; NMONDO:MONDO:0033362,MedGen:C4479313,OMIM:617389; MONDO:MONDO:0014233,MedGen:C3809824,OMIM:615530, Orphanet:391411213401198734011987AG21:g.34011987A>GClinGen:CA10003293
NM_203446.3(SYNJ1):c.3690G>A (p.Thr1230=)8867SYNJ1Likely benignrs1446522492RCV000918677; NMONDO:MONDO:0033362,MedGen:C4479313,OMIM:617389; MONDO:MONDO:0014233,MedGen:C3809824,OMIM:615530, Orphanet:391411213401198834011988CT21:g.34011988C>T-
NM_003895.3(SYNJ1):c.3806C>T (p.Thr1269Met)8867SYNJ1Uncertain significancers752805765RCV000528408; NMONDO:MONDO:0033362,MedGen:C4479313,OMIM:617389; MONDO:MONDO:0014233,MedGen:C3809824,OMIM:615530, Orphanet:391411213401198934011989GA21:g.34011989G>AClinGen:CA10003294
NM_203446.3(SYNJ1):c.3673A>T (p.Ser1225Cys)8867SYNJ1Uncertain significance-1RCV001220901; NMONDO:MONDO:0033362,MedGen:C4479313,OMIM:617389; MONDO:MONDO:0014233,MedGen:C3809824,OMIM:615530, Orphanet:391411213401200534012005TA21:g.34012005T>A-
NM_003895.3(SYNJ1):c.3769A>G (p.Arg1257Gly)8867SYNJ1Uncertain significancers139146760RCV000821336; NMONDO:MONDO:0033362,MedGen:C4479313,OMIM:617389; MONDO:MONDO:0014233,MedGen:C3809824,OMIM:615530, Orphanet:391411213401202634012026TC21:g.34012026T>C-
NM_003895.3(SYNJ1):c.3755G>A (p.Arg1252Gln)8867SYNJ1Uncertain significancers144048853RCV000549180|RCV000713728; NMONDO:MONDO:0033362,MedGen:C4479313,OMIM:617389; MONDO:MONDO:0014233,MedGen:C3809824,OMIM:615530, Orphanet:391411|MedGen:CN517202213401204034012040CT21:g.34012040C>TClinGen:CA10003301
NM_003895.3(SYNJ1):c.3753G>A (p.Ala1251=)8867SYNJ1Likely benignrs576444776RCV000536527; NMONDO:MONDO:0033362,MedGen:C4479313,OMIM:617389; MONDO:MONDO:0014233,MedGen:C3809824,OMIM:615530, Orphanet:391411213401204234012042CT21:g.34012042C>TClinGen:CA10003304
NM_003895.3(SYNJ1):c.3751G>A (p.Ala1251Thr)8867SYNJ1Uncertain significancers769125182RCV000800705; NMONDO:MONDO:0033362,MedGen:C4479313,OMIM:617389; MONDO:MONDO:0014233,MedGen:C3809824,OMIM:615530, Orphanet:391411213401204434012044CT21:g.34012044C>T-
NM_203446.3(SYNJ1):c.3633C>T (p.His1211=)8867SYNJ1Likely benignrs771394723RCV000919272; NMONDO:MONDO:0033362,MedGen:C4479313,OMIM:617389; MONDO:MONDO:0014233,MedGen:C3809824,OMIM:615530, Orphanet:391411213401204534012045GA21:g.34012045G>A-
NM_003895.3(SYNJ1):c.3727G>A (p.Val1243Ile)8867SYNJ1Uncertain significancers1569027714RCV000693739; NMONDO:MONDO:0033362,MedGen:C4479313,OMIM:617389; MONDO:MONDO:0014233,MedGen:C3809824,OMIM:615530, Orphanet:391411213401206834012068CT21:g.34012068C>T-C4479313 617389 Epileptic encephalopathy, early infantile, 53;
NM_203446.3(SYNJ1):c.3602G>A (p.Arg1201His)8867SYNJ1Uncertain significance-1RCV001246259; NMONDO:MONDO:0033362,MedGen:C4479313,OMIM:617389; MONDO:MONDO:0014233,MedGen:C3809824,OMIM:615530, Orphanet:391411213401207634012076CT21:g.34012076C>T-
NM_003895.3(SYNJ1):c.3718C>T (p.Arg1240Cys)8867SYNJ1Uncertain significancers114994257RCV000784964|RCV000784965|RCV000784966; NMONDO:MONDO:0010632,MedGen:C3463992,OMIM:308350|MONDO:MONDO:0014233,MedGen:C3809824,OMIM:615530, Orphanet:391411|MONDO:MONDO:0033362,MedGen:C4479313,OMIM:617389213401207734012077GA21:g.34012077G>A-
NM_203446.3(SYNJ1):c.3601C>G (p.Arg1201Gly)8867SYNJ1Uncertain significance-1RCV001038795; NMONDO:MONDO:0033362,MedGen:C4479313,OMIM:617389; MONDO:MONDO:0014233,MedGen:C3809824,OMIM:615530, Orphanet:391411213401207734012077GC21:g.34012077G>C-
NM_203446.3(SYNJ1):c.3591G>A (p.Thr1197=)8867SYNJ1Likely benignrs764207431RCV000952666; NMONDO:MONDO:0033362,MedGen:C4479313,OMIM:617389; MONDO:MONDO:0014233,MedGen:C3809824,OMIM:615530, Orphanet:391411213401208734012087CT21:g.34012087C>T-
NM_003895.3(SYNJ1):c.3707C>T (p.Thr1236Met)8867SYNJ1Likely benignrs145937537RCV000658922|RCV001079642; NMedGen:CN517202|MONDO:MONDO:0033362,MedGen:C4479313,OMIM:617389; MONDO:MONDO:0014233,MedGen:C3809824,OMIM:615530, Orphanet:391411213401208834012088GA21:g.34012088G>AClinGen:CA10003314
NM_003895.3(SYNJ1):c.3705G>A (p.Pro1235=)8867SYNJ1Uncertain significancers1160685381RCV000548087; NMONDO:MONDO:0033362,MedGen:C4479313,OMIM:617389; MONDO:MONDO:0014233,MedGen:C3809824,OMIM:615530, Orphanet:391411213401420634014206CT21:g.34014206C>TClinGen:CA512143858
NM_003895.3(SYNJ1):c.3704C>T (p.Pro1235Leu)8867SYNJ1Uncertain significancers61752550RCV000697536; NMONDO:MONDO:0033362,MedGen:C4479313,OMIM:617389; MONDO:MONDO:0014233,MedGen:C3809824,OMIM:615530, Orphanet:391411213401420734014207GA21:g.34014207G>A-C4479313 617389 Epileptic encephalopathy, early infantile, 53;
NM_003895.3(SYNJ1):c.3704C>A (p.Pro1235Gln)8867SYNJ1Uncertain significancers61752550RCV000698606; NMONDO:MONDO:0033362,MedGen:C4479313,OMIM:617389; MONDO:MONDO:0014233,MedGen:C3809824,OMIM:615530, Orphanet:391411213401420734014207GT21:g.34014207G>T-
NM_203446.3(SYNJ1):c.3584G>C (p.Arg1195Thr)8867SYNJ1Uncertain significance-1RCV001054682; NMONDO:MONDO:0033362,MedGen:C4479313,OMIM:617389; MONDO:MONDO:0014233,MedGen:C3809824,OMIM:615530, Orphanet:391411213401421034014210CG21:g.34014210C>G-
NM_003895.3(SYNJ1):c.3698C>G (p.Ala1233Gly)8867SYNJ1Uncertain significancers779766895RCV000796047; NMONDO:MONDO:0033362,MedGen:C4479313,OMIM:617389; MONDO:MONDO:0014233,MedGen:C3809824,OMIM:615530, Orphanet:391411213401421334014213GC21:g.34014213G>C-
NM_003895.3(SYNJ1):c.3697G>C (p.Ala1233Pro)8867SYNJ1Uncertain significancers77164494RCV000655766; NMONDO:MONDO:0033362,MedGen:C4479313,OMIM:617389; MONDO:MONDO:0014233,MedGen:C3809824,OMIM:615530, Orphanet:391411213401421434014214CG21:g.34014214C>GClinGen:CA10003340
NM_003895.3(SYNJ1):c.3671G>A (p.Gly1224Asp)8867SYNJ1Uncertain significancers1569030684RCV000688391; NMONDO:MONDO:0033362,MedGen:C4479313,OMIM:617389; MONDO:MONDO:0014233,MedGen:C3809824,OMIM:615530, Orphanet:391411213401424034014240CT21:g.34014240C>T-
NM_203446.3(SYNJ1):c.3547C>G (p.Leu1183Val)8867SYNJ1Uncertain significance-1RCV001053334; NMONDO:MONDO:0033362,MedGen:C4479313,OMIM:617389; MONDO:MONDO:0014233,MedGen:C3809824,OMIM:615530, Orphanet:391411213401424734014247GC21:g.34014247G>C-
NM_003895.3(SYNJ1):c.3641G>C (p.Ser1214Thr)8867SYNJ1Uncertain significancers994115947RCV000655744; NMONDO:MONDO:0033362,MedGen:C4479313,OMIM:617389; MONDO:MONDO:0014233,MedGen:C3809824,OMIM:615530, Orphanet:391411213401427034014270CG21:g.34014270C>GClinGen:CA319422118
NM_203446.3(SYNJ1):c.3520C>T (p.Arg1174Cys)8867SYNJ1Uncertain significance-1RCV001046232; NMONDO:MONDO:0033362,MedGen:C4479313,OMIM:617389; MONDO:MONDO:0014233,MedGen:C3809824,OMIM:615530, Orphanet:391411213401427434014274GA21:g.34014274G>A-
NM_203446.3(SYNJ1):c.3481C>G (p.Pro1161Ala)8867SYNJ1Uncertain significance-1RCV001221984; NMONDO:MONDO:0033362,MedGen:C4479313,OMIM:617389; MONDO:MONDO:0014233,MedGen:C3809824,OMIM:615530, Orphanet:391411213401444134014441GC21:g.34014441G>C-
NM_203446.3(SYNJ1):c.3476A>T (p.Glu1159Val)8867SYNJ1Uncertain significance-1RCV001236801; NMONDO:MONDO:0033362,MedGen:C4479313,OMIM:617389; MONDO:MONDO:0014233,MedGen:C3809824,OMIM:615530, Orphanet:391411213401572234015722TA21:g.34015722T>A-
NM_203446.3(SYNJ1):c.3457del (p.Gly1152_Val1153insTer)8867SYNJ1Pathogenic-1RCV001222105; NMONDO:MONDO:0033362,MedGen:C4479313,OMIM:617389; MONDO:MONDO:0014233,MedGen:C3809824,OMIM:615530, Orphanet:391411213401574134015741ACA21:g.34015741_34015741del-
NM_003895.3(SYNJ1):c.3548G>A (p.Gly1183Asp)8867SYNJ1Uncertain significancers142964720RCV000535707; NMONDO:MONDO:0033362,MedGen:C4479313,OMIM:617389; MONDO:MONDO:0014233,MedGen:C3809824,OMIM:615530, Orphanet:391411213401576734015767CT21:g.34015767C>TClinGen:CA10003401
NM_003895.3(SYNJ1):c.3548-8C>A8867SYNJ1Uncertain significancers369584002RCV000798274; NMONDO:MONDO:0033362,MedGen:C4479313,OMIM:617389; MONDO:MONDO:0014233,MedGen:C3809824,OMIM:615530, Orphanet:391411213401577534015775GT21:g.34015775G>T-
NM_003895.3(SYNJ1):c.3527C>T (p.Pro1176Leu)8867SYNJ1Uncertain significancers569046864RCV000655767; NMONDO:MONDO:0033362,MedGen:C4479313,OMIM:617389; MONDO:MONDO:0014233,MedGen:C3809824,OMIM:615530, Orphanet:391411213401729834017298GA21:g.34017298G>AClinGen:CA10003418C4479313 617389 Epileptic encephalopathy, early infantile, 53;
NM_203446.3(SYNJ1):c.3403C>T (p.Pro1135Ser)8867SYNJ1Uncertain significance-1RCV001046387; NMONDO:MONDO:0033362,MedGen:C4479313,OMIM:617389; MONDO:MONDO:0014233,MedGen:C3809824,OMIM:615530, Orphanet:391411213401730534017305GA21:g.34017305G>A-
NM_003895.3(SYNJ1):c.3509-5A>G8867SYNJ1Uncertain significancers776721216RCV000797876; NMONDO:MONDO:0033362,MedGen:C4479313,OMIM:617389; MONDO:MONDO:0014233,MedGen:C3809824,OMIM:615530, Orphanet:391411213401732134017321TC21:g.34017321T>C-
NM_203446.3(SYNJ1):c.3392-5A>T8867SYNJ1Likely benignrs776721216RCV000977574; NMONDO:MONDO:0033362,MedGen:C4479313,OMIM:617389; MONDO:MONDO:0014233,MedGen:C3809824,OMIM:615530, Orphanet:391411213401732134017321TA21:g.34017321T>A-
NM_203446.3(SYNJ1):c.3392-8A>T8867SYNJ1Likely benignrs533064963RCV000929801; NMONDO:MONDO:0033362,MedGen:C4479313,OMIM:617389; MONDO:MONDO:0014233,MedGen:C3809824,OMIM:615530, Orphanet:391411213401732434017324TA21:g.34017324T>A-
NM_003895.3(SYNJ1):c.3493C>A (p.Pro1165Thr)8867SYNJ1Uncertain significancers1485482944RCV000815075; NMONDO:MONDO:0033362,MedGen:C4479313,OMIM:617389; MONDO:MONDO:0014233,MedGen:C3809824,OMIM:615530, Orphanet:391411213401797134017971GT21:g.34017971G>T-
NM_003895.3(SYNJ1):c.3486A>G (p.Pro1162=)8867SYNJ1Benign/Likely benignrs368850131RCV000713726|RCV001083407; NMedGen:CN517202|MONDO:MONDO:0033362,MedGen:C4479313,OMIM:617389; MONDO:MONDO:0014233,MedGen:C3809824,OMIM:615530, Orphanet:391411213401797834017978TC21:g.34017978T>CClinGen:CA10003439
NM_203446.3(SYNJ1):c.3368C>A (p.Pro1123Gln)8867SYNJ1Uncertain significance-1RCV001061834; NMONDO:MONDO:0033362,MedGen:C4479313,OMIM:617389; MONDO:MONDO:0014233,MedGen:C3809824,OMIM:615530, Orphanet:391411213401797934017979GT21:g.34017979G>T-
NM_203446.3(SYNJ1):c.3364C>T (p.Pro1122Ser)8867SYNJ1Uncertain significance-1RCV001205063; NMONDO:MONDO:0033362,MedGen:C4479313,OMIM:617389; MONDO:MONDO:0014233,MedGen:C3809824,OMIM:615530, Orphanet:391411213401798334017983GA21:g.34017983G>A-
NM_003895.3(SYNJ1):c.3476C>T (p.Pro1159Leu)8867SYNJ1Uncertain significancers773242399RCV001257216; NMONDO:MONDO:0033362,MedGen:C4479313,OMIM:617389; MONDO:MONDO:0014233,MedGen:C3809824,OMIM:615530, Orphanet:391411213401798834017988GA21:g.34017988G>A-
NM_203446.3(SYNJ1):c.3357C>T (p.Arg1119=)8867SYNJ1Likely benignrs1601259728RCV000921992; NMONDO:MONDO:0033362,MedGen:C4479313,OMIM:617389; MONDO:MONDO:0014233,MedGen:C3809824,OMIM:615530, Orphanet:391411213401799034017990GA21:g.34017990G>A-
NM_203446.3(SYNJ1):c.3352A>G (p.Thr1118Ala)8867SYNJ1Uncertain significance-1RCV001063021; NMONDO:MONDO:0033362,MedGen:C4479313,OMIM:617389; MONDO:MONDO:0014233,MedGen:C3809824,OMIM:615530, Orphanet:391411213401799534017995TC21:g.34017995T>C-
NM_203446.3(SYNJ1):c.3347C>T (p.Pro1116Leu)8867SYNJ1Uncertain significance-1RCV001049739; NMONDO:MONDO:0033362,MedGen:C4479313,OMIM:617389; MONDO:MONDO:0014233,MedGen:C3809824,OMIM:615530, Orphanet:391411213401800034018000GA21:g.34018000G>A-
NM_203446.3(SYNJ1):c.3340G>A (p.Val1114Ile)8867SYNJ1Uncertain significance-1RCV001245323; NMONDO:MONDO:0033362,MedGen:C4479313,OMIM:617389; MONDO:MONDO:0014233,MedGen:C3809824,OMIM:615530, Orphanet:391411213401800734018007CT21:g.34018007C>T-
NM_003895.3(SYNJ1):c.3437G>A (p.Arg1146Gln)8867SYNJ1Uncertain significancers917502531RCV000690589; NMONDO:MONDO:0033362,MedGen:C4479313,OMIM:617389; MONDO:MONDO:0014233,MedGen:C3809824,OMIM:615530, Orphanet:391411213401802734018027CT21:g.34018027C>T-C4479313 617389 Epileptic encephalopathy, early infantile, 53;
NM_003895.3(SYNJ1):c.3421C>T (p.Pro1141Ser)8867SYNJ1Uncertain significancers1368672974RCV000655755; NMONDO:MONDO:0033362,MedGen:C4479313,OMIM:617389; MONDO:MONDO:0014233,MedGen:C3809824,OMIM:615530, Orphanet:391411213401804334018043GA21:g.34018043G>AClinGen:CA410068343C4479313 617389 Epileptic encephalopathy, early infantile, 53;
NM_003895.3(SYNJ1):c.3407A>G (p.Lys1136Arg)8867SYNJ1Uncertain significancers946267411RCV000530098; NMONDO:MONDO:0033362,MedGen:C4479313,OMIM:617389; MONDO:MONDO:0014233,MedGen:C3809824,OMIM:615530, Orphanet:391411213401805734018057TC21:g.34018057T>CClinGen:CA319422840
NM_003895.3(SYNJ1):c.3398_3403del (p.Leu1133_Pro1134del)8867SYNJ1Uncertain significancers1283379982RCV000702703; NMONDO:MONDO:0033362,MedGen:C4479313,OMIM:617389; MONDO:MONDO:0014233,MedGen:C3809824,OMIM:615530, Orphanet:391411213401806134018066TGCGGCAT21:g.34018061_34018066del-
NM_003895.3(SYNJ1):c.3402G>A (p.Pro1134=)8867SYNJ1Likely benignrs376395608RCV000655782; NMONDO:MONDO:0033362,MedGen:C4479313,OMIM:617389; MONDO:MONDO:0014233,MedGen:C3809824,OMIM:615530, Orphanet:391411213401806234018062CT21:g.34018062C>TClinGen:CA10003451C4479313 617389 Epileptic encephalopathy, early infantile, 53;
NM_203446.3(SYNJ1):c.3285G>T (p.Pro1095=)8867SYNJ1Likely benignrs376395608RCV000941255; NMONDO:MONDO:0033362,MedGen:C4479313,OMIM:617389; MONDO:MONDO:0014233,MedGen:C3809824,OMIM:615530, Orphanet:391411213401806234018062CA21:g.34018062C>A-
NM_003895.3(SYNJ1):c.3365-2A>G8867SYNJ1Pathogenicrs1057524880RCV000445440|RCV001266776; NMONDO:MONDO:0033362,MedGen:C4479313,OMIM:617389|MeSH:D030342,MedGen:C0950123213401810134018101TC21:g.34018101T>CClinGen:CA16609239,OMIM:604297.0006C4479313 617389 Epileptic encephalopathy, early infantile, 53;
NM_203446.3(SYNJ1):c.3248-6T>G8867SYNJ1Uncertain significance-1RCV001060692; NMONDO:MONDO:0033362,MedGen:C4479313,OMIM:617389; MONDO:MONDO:0014233,MedGen:C3809824,OMIM:615530, Orphanet:391411213401810534018105AC21:g.34018105A>C-
NM_003895.3(SYNJ1):c.3332C>A (p.Pro1111Gln)8867SYNJ1Uncertain significancers771524798RCV000685214; NMONDO:MONDO:0033362,MedGen:C4479313,OMIM:617389; MONDO:MONDO:0014233,MedGen:C3809824,OMIM:615530, Orphanet:391411213401873534018735GT21:g.34018735G>T-
NM_003895.3(SYNJ1):c.3326G>A (p.Arg1109Gln)8867SYNJ1Uncertain significancers141107054RCV000655746; NMONDO:MONDO:0033362,MedGen:C4479313,OMIM:617389; MONDO:MONDO:0014233,MedGen:C3809824,OMIM:615530, Orphanet:391411213401874134018741CT21:g.34018741C>TClinGen:CA10003485C4479313 617389 Epileptic encephalopathy, early infantile, 53;
NM_203446.3(SYNJ1):c.3208C>T (p.Arg1070Ter)8867SYNJ1Pathogenicrs1373545506RCV001257421; NMONDO:MONDO:0033362,MedGen:C4479313,OMIM:617389213401874234018742GA21:g.34018742G>A-
NM_003895.3(SYNJ1):c.3322A>G (p.Ser1108Gly)8867SYNJ1Likely benignrs149817769RCV000557586; NMONDO:MONDO:0033362,MedGen:C4479313,OMIM:617389; MONDO:MONDO:0014233,MedGen:C3809824,OMIM:615530, Orphanet:391411213401874534018745TC21:g.34018745T>CClinGen:CA10003486
NM_203446.3(SYNJ1):c.3202C>G (p.Pro1068Ala)8867SYNJ1Uncertain significance-1RCV001069121; NMONDO:MONDO:0033362,MedGen:C4479313,OMIM:617389; MONDO:MONDO:0014233,MedGen:C3809824,OMIM:615530, Orphanet:391411213401874834018748GC21:g.34018748G>C-
NM_203446.3(SYNJ1):c.3181G>C (p.Val1061Leu)8867SYNJ1Uncertain significance-1RCV001219325; NMONDO:MONDO:0033362,MedGen:C4479313,OMIM:617389; MONDO:MONDO:0014233,MedGen:C3809824,OMIM:615530, Orphanet:391411213401876934018769CG21:g.34018769C>G-
NM_003895.3(SYNJ1):c.3296C>G (p.Pro1099Arg)8867SYNJ1Uncertain significancers1430500307RCV000655762; NMONDO:MONDO:0033362,MedGen:C4479313,OMIM:617389; MONDO:MONDO:0014233,MedGen:C3809824,OMIM:615530, Orphanet:391411213401877134018771GC21:g.34018771G>CClinGen:CA410069312
NM_203446.3(SYNJ1):c.3175G>A (p.Gly1059Ser)8867SYNJ1Uncertain significance-1RCV001064419; NMONDO:MONDO:0033362,MedGen:C4479313,OMIM:617389; MONDO:MONDO:0014233,MedGen:C3809824,OMIM:615530, Orphanet:391411213401877534018775CT21:g.34018775C>T-
NM_203446.3(SYNJ1):c.3145_3147dup (p.Ser1049dup)8867SYNJ1Uncertain significance-1RCV001222312; NMONDO:MONDO:0033362,MedGen:C4479313,OMIM:617389; MONDO:MONDO:0014233,MedGen:C3809824,OMIM:615530, Orphanet:391411213401880234018803GGACT21:g.34018802_34018803insACT-
NM_003895.3(SYNJ1):c.3256C>G (p.Arg1086Gly)8867SYNJ1Uncertain significancers147931121RCV000699027; NMONDO:MONDO:0033362,MedGen:C4479313,OMIM:617389; MONDO:MONDO:0014233,MedGen:C3809824,OMIM:615530, Orphanet:391411213401881134018811GC21:g.34018811G>C-
NM_203446.3(SYNJ1):c.3126del (p.Ser1043fs)8867SYNJ1Pathogenic-1RCV001051902; NMONDO:MONDO:0033362,MedGen:C4479313,OMIM:617389; MONDO:MONDO:0014233,MedGen:C3809824,OMIM:615530, Orphanet:391411213401882434018824TGT21:g.34018824_34018824del-
NM_003895.3(SYNJ1):c.3214T>C (p.Ser1072Pro)8867SYNJ1Uncertain significancers61752559RCV000704245; NMONDO:MONDO:0033362,MedGen:C4479313,OMIM:617389; MONDO:MONDO:0014233,MedGen:C3809824,OMIM:615530, Orphanet:391411213401885334018853AG21:g.34018853A>G-C4479313 617389 Epileptic encephalopathy, early infantile, 53;
NM_003895.3(SYNJ1):c.3174T>G (p.Ser1058Arg)8867SYNJ1Uncertain significancers767760891RCV000686383; NMONDO:MONDO:0033362,MedGen:C4479313,OMIM:617389; MONDO:MONDO:0014233,MedGen:C3809824,OMIM:615530, Orphanet:391411213401889334018893AC21:g.34018893A>C-C4479313 617389 Epileptic encephalopathy, early infantile, 53;
NM_203446.3(SYNJ1):c.3042T>A (p.Asp1014Glu)8867SYNJ1Uncertain significance-1RCV001060419; NMONDO:MONDO:0033362,MedGen:C4479313,OMIM:617389; MONDO:MONDO:0014233,MedGen:C3809824,OMIM:615530, Orphanet:391411213401890834018908AT21:g.34018908A>T-
NM_203446.3(SYNJ1):c.3036A>C (p.Glu1012Asp)8867SYNJ1Uncertain significance-1RCV001066571; NMONDO:MONDO:0033362,MedGen:C4479313,OMIM:617389; MONDO:MONDO:0014233,MedGen:C3809824,OMIM:615530, Orphanet:391411213402249534022495TG21:g.34022495T>G-
NM_003895.3(SYNJ1):c.3114T>C (p.Leu1038=)8867SYNJ1Likely benignrs111774827RCV000655777; NMONDO:MONDO:0033362,MedGen:C4479313,OMIM:617389; MONDO:MONDO:0014233,MedGen:C3809824,OMIM:615530, Orphanet:391411213402253434022534AG21:g.34022534A>GClinGen:CA10003532C4479313 617389 Epileptic encephalopathy, early infantile, 53;
NM_003895.3(SYNJ1):c.3113T>A (p.Leu1038His)8867SYNJ1Uncertain significancers1601283152RCV000821417; NMONDO:MONDO:0033362,MedGen:C4479313,OMIM:617389; MONDO:MONDO:0014233,MedGen:C3809824,OMIM:615530, Orphanet:391411213402253534022535AT21:g.34022535A>T-
NM_003895.3(SYNJ1):c.3098C>A (p.Thr1033Lys)8867SYNJ1Uncertain significancers776726487RCV000819595; NMONDO:MONDO:0033362,MedGen:C4479313,OMIM:617389; MONDO:MONDO:0014233,MedGen:C3809824,OMIM:615530, Orphanet:391411213402255034022550GT21:g.34022550G>T-
NM_003895.3(SYNJ1):c.3071A>G (p.Lys1024Arg)8867SYNJ1Uncertain significancers1325187801RCV000824245; NMONDO:MONDO:0033362,MedGen:C4479313,OMIM:617389; MONDO:MONDO:0014233,MedGen:C3809824,OMIM:615530, Orphanet:391411213402257734022577TC21:g.34022577T>C-
NM_003895.3(SYNJ1):c.3060G>T (p.Met1020Ile)8867SYNJ1Benignrs115683257RCV000655774; NMONDO:MONDO:0033362,MedGen:C4479313,OMIM:617389; MONDO:MONDO:0014233,MedGen:C3809824,OMIM:615530, Orphanet:391411213402258834022588CA21:g.34022588C>AClinGen:CA10003539C4479313 617389 Epileptic encephalopathy, early infantile, 53;
NM_203446.3(SYNJ1):c.2902T>G (p.Leu968Val)8867SYNJ1Uncertain significance-1RCV001233196; NMONDO:MONDO:0033362,MedGen:C4479313,OMIM:617389; MONDO:MONDO:0014233,MedGen:C3809824,OMIM:615530, Orphanet:391411213402262934022629AC21:g.34022629A>C-
NM_003895.3(SYNJ1):c.3013A>G (p.Ile1005Val)8867SYNJ1Uncertain significancers1601283648RCV000795373; NMONDO:MONDO:0033362,MedGen:C4479313,OMIM:617389; MONDO:MONDO:0014233,MedGen:C3809824,OMIM:615530, Orphanet:391411213402263534022635TC21:g.34022635T>C-
NM_203446.3(SYNJ1):c.2885G>A (p.Arg962Gln)8867SYNJ1Uncertain significance-1RCV001046770; NMONDO:MONDO:0033362,MedGen:C4479313,OMIM:617389; MONDO:MONDO:0014233,MedGen:C3809824,OMIM:615530, Orphanet:391411213402264634022646CT21:g.34022646C>T-
NM_003895.3(SYNJ1):c.3001C>T (p.Arg1001Trp)8867SYNJ1Uncertain significancers149147152RCV000815512; NMONDO:MONDO:0033362,MedGen:C4479313,OMIM:617389; MONDO:MONDO:0014233,MedGen:C3809824,OMIM:615530, Orphanet:391411213402264734022647GA21:g.34022647G>A-
NM_003895.3(SYNJ1):c.2999A>G (p.Asn1000Ser)8867SYNJ1Uncertain significancers754401787RCV000545053; NMONDO:MONDO:0033362,MedGen:C4479313,OMIM:617389; MONDO:MONDO:0014233,MedGen:C3809824,OMIM:615530, Orphanet:391411213402264934022649TC21:g.34022649T>CClinGen:CA319424147C4479313 617389 Epileptic encephalopathy, early infantile, 53;
NM_203446.3(SYNJ1):c.2875-6C>T8867SYNJ1Likely benignrs183558612RCV000973055; NMONDO:MONDO:0033362,MedGen:C4479313,OMIM:617389; MONDO:MONDO:0014233,MedGen:C3809824,OMIM:615530, Orphanet:391411213402266234022662GA21:g.34022662G>A-
NM_003895.3(SYNJ1):c.2991+6G>A8867SYNJ1Uncertain significancers368204504RCV000707385; NMONDO:MONDO:0033362,MedGen:C4479313,OMIM:617389; MONDO:MONDO:0014233,MedGen:C3809824,OMIM:615530, Orphanet:391411213402559234025592CT21:g.34025592C>T-
NM_003895.3(SYNJ1):c.2991+5G>A8867SYNJ1Conflicting interpretations of pathogenicityrs371765751RCV000552019|RCV000997819; NMONDO:MONDO:0033362,MedGen:C4479313,OMIM:617389; MONDO:MONDO:0014233,MedGen:C3809824,OMIM:615530, Orphanet:391411|MedGen:CN517202213402559334025593CT21:g.34025593C>TClinGen:CA10003564C4479313 617389 Epileptic encephalopathy, early infantile, 53;
NM_203446.3(SYNJ1):c.2814G>A (p.Met938Ile)8867SYNJ1Uncertain significance-1RCV001062148; NMONDO:MONDO:0033362,MedGen:C4479313,OMIM:617389; MONDO:MONDO:0014233,MedGen:C3809824,OMIM:615530, Orphanet:391411213402565834025658CT21:g.34025658C>T-
NM_203446.3(SYNJ1):c.2795+10T>C8867SYNJ1Likely benignrs756959605RCV000932445; NMONDO:MONDO:0033362,MedGen:C4479313,OMIM:617389; MONDO:MONDO:0014233,MedGen:C3809824,OMIM:615530, Orphanet:391411213402898734028987AG21:g.34028987A>G-
NM_203446.3(SYNJ1):c.2793_2797del (p.Arg932fs)8867SYNJ1Pathogenicrs778394516RCV000691883; NMONDO:MONDO:0033362,MedGen:C4479313,OMIM:617389; MONDO:MONDO:0014233,MedGen:C3809824,OMIM:615530, Orphanet:391411213402899734029001CCTTATC21:g.34028997_34029001del-C4479313 617389 Epileptic encephalopathy, early infantile, 53;
NM_003895.3(SYNJ1):c.2909T>C (p.Ile970Thr)8867SYNJ1Uncertain significancers932390799RCV000655752; NMONDO:MONDO:0033362,MedGen:C4479313,OMIM:617389; MONDO:MONDO:0014233,MedGen:C3809824,OMIM:615530, Orphanet:391411213402900034029000AG21:g.34029000A>GClinGen:CA319425769C4479313 617389 Epileptic encephalopathy, early infantile, 53;
NM_003895.3(SYNJ1):c.2903T>C (p.Ile968Thr)8867SYNJ1Uncertain significancers755258923RCV000655756; NMONDO:MONDO:0033362,MedGen:C4479313,OMIM:617389; MONDO:MONDO:0014233,MedGen:C3809824,OMIM:615530, Orphanet:391411213402900634029006AG21:g.34029006A>GClinGen:CA10003594C4479313 617389 Epileptic encephalopathy, early infantile, 53;
NM_203446.3(SYNJ1):c.2782G>A (p.Val928Ile)8867SYNJ1Uncertain significance-1RCV001066066; NMONDO:MONDO:0033362,MedGen:C4479313,OMIM:617389; MONDO:MONDO:0014233,MedGen:C3809824,OMIM:615530, Orphanet:391411213402901034029010CT21:g.34029010C>T-
NM_003895.3(SYNJ1):c.2898A>G (p.Glu966=)8867SYNJ1Uncertain significancers1350091132RCV000694181; NMONDO:MONDO:0033362,MedGen:C4479313,OMIM:617389; MONDO:MONDO:0014233,MedGen:C3809824,OMIM:615530, Orphanet:391411213402901134029011TC21:g.34029011T>C-C4479313 617389 Epileptic encephalopathy, early infantile, 53;
NM_203446.3(SYNJ1):c.2760G>C (p.Gln920His)8867SYNJ1Uncertain significance-1RCV001244206; NMONDO:MONDO:0033362,MedGen:C4479313,OMIM:617389; MONDO:MONDO:0014233,MedGen:C3809824,OMIM:615530, Orphanet:391411213402903234029032CG21:g.34029032C>G-
NM_003895.3(SYNJ1):c.2861T>C (p.Ile954Thr)8867SYNJ1Uncertain significancers867564053RCV000701873; NMONDO:MONDO:0033362,MedGen:C4479313,OMIM:617389; MONDO:MONDO:0014233,MedGen:C3809824,OMIM:615530, Orphanet:391411213402904834029048AG21:g.34029048A>G-
NM_203446.3(SYNJ1):c.2744T>G (p.Ile915Ser)8867SYNJ1Uncertain significance-1RCV001245890; NMONDO:MONDO:0033362,MedGen:C4479313,OMIM:617389; MONDO:MONDO:0014233,MedGen:C3809824,OMIM:615530, Orphanet:391411213402904834029048AC21:g.34029048A>C-
NM_003895.3(SYNJ1):c.2856C>T (p.Ala952=)8867SYNJ1Likely benignrs267606107RCV000905639; NMONDO:MONDO:0014233,MedGen:C3809824,OMIM:615530, Orphanet:391411; MONDO:MONDO:0033362,MedGen:C4479313,OMIM:617389213402905334029053GA21:g.34029053G>A-
NM_203446.3(SYNJ1):c.2720A>G (p.Asn907Ser)8867SYNJ1Uncertain significance-1RCV001039499; NMONDO:MONDO:0033362,MedGen:C4479313,OMIM:617389; MONDO:MONDO:0014233,MedGen:C3809824,OMIM:615530, Orphanet:391411213402907234029072TC21:g.34029072T>C-
NM_203446.3(SYNJ1):c.2708C>G (p.Ser903Cys)8867SYNJ1Uncertain significance-1RCV001216706; NMONDO:MONDO:0033362,MedGen:C4479313,OMIM:617389; MONDO:MONDO:0014233,MedGen:C3809824,OMIM:615530, Orphanet:391411213402908434029084GC21:g.34029084G>C-
NM_203446.3(SYNJ1):c.2691G>A (p.Leu897=)8867SYNJ1Benignrs115263361RCV000923279; NMONDO:MONDO:0033362,MedGen:C4479313,OMIM:617389; MONDO:MONDO:0014233,MedGen:C3809824,OMIM:615530, Orphanet:391411213402910134029101CT21:g.34029101C>T-
NM_003895.3(SYNJ1):c.2802A>G (p.Thr934=)8867SYNJ1Uncertain significancers939655575RCV000806394; NMONDO:MONDO:0033362,MedGen:C4479313,OMIM:617389; MONDO:MONDO:0014233,MedGen:C3809824,OMIM:615530, Orphanet:391411213402910734029107TC21:g.34029107T>C-
NM_203446.3(SYNJ1):c.2668G>C (p.Gly890Arg)8867SYNJ1Uncertain significance-1RCV001071891; NMONDO:MONDO:0033362,MedGen:C4479313,OMIM:617389; MONDO:MONDO:0014233,MedGen:C3809824,OMIM:615530, Orphanet:391411213402912434029124CG21:g.34029124C>G-
NM_003895.3(SYNJ1):c.2770G>A (p.Val924Ile)8867SYNJ1Uncertain significancers763757097RCV000705648; NMONDO:MONDO:0033362,MedGen:C4479313,OMIM:617389; MONDO:MONDO:0014233,MedGen:C3809824,OMIM:615530, Orphanet:391411213402913934029139CT21:g.34029139C>T-C4479313 617389 Epileptic encephalopathy, early infantile, 53;
NM_003895.3(SYNJ1):c.2748G>C (p.Glu916Asp)8867SYNJ1Uncertain significancers375526059RCV000655747; NMONDO:MONDO:0033362,MedGen:C4479313,OMIM:617389; MONDO:MONDO:0014233,MedGen:C3809824,OMIM:615530, Orphanet:391411213402916134029161CG21:g.34029161C>GClinGen:CA10003608C4479313 617389 Epileptic encephalopathy, early infantile, 53;
NM_203446.3(SYNJ1):c.2609T>C (p.Ile870Thr)8867SYNJ1Uncertain significance-1RCV001222410; NMONDO:MONDO:0033362,MedGen:C4479313,OMIM:617389; MONDO:MONDO:0014233,MedGen:C3809824,OMIM:615530, Orphanet:391411213402918334029183AG21:g.34029183A>G-
NM_003895.3(SYNJ1):c.2721A>G (p.Ile907Met)8867SYNJ1Uncertain significancers377165480RCV000539702; NMONDO:MONDO:0033362,MedGen:C4479313,OMIM:617389; MONDO:MONDO:0014233,MedGen:C3809824,OMIM:615530, Orphanet:391411213402918834029188TC21:g.34029188T>CClinGen:CA10003614C4479313 617389 Epileptic encephalopathy, early infantile, 53;
NM_003895.3(SYNJ1):c.2714T>C (p.Ile905Thr)8867SYNJ1Uncertain significancers114053718RCV000655751; NMONDO:MONDO:0033362,MedGen:C4479313,OMIM:617389; MONDO:MONDO:0014233,MedGen:C3809824,OMIM:615530, Orphanet:391411213402919534029195AG21:g.34029195A>GClinGen:CA10003616
NM_003895.3(SYNJ1):c.2703C>T (p.Val901=)8867SYNJ1Likely benignrs771973400RCV000531679; NMONDO:MONDO:0033362,MedGen:C4479313,OMIM:617389; MONDO:MONDO:0014233,MedGen:C3809824,OMIM:615530, Orphanet:391411213402920634029206GA21:g.34029206G>AClinGen:CA10003620C4479313 617389 Epileptic encephalopathy, early infantile, 53;
NM_003895.3(SYNJ1):c.2684C>A (p.Thr895Asn)8867SYNJ1Uncertain significancers1191504880RCV000798550; NMONDO:MONDO:0033362,MedGen:C4479313,OMIM:617389; MONDO:MONDO:0014233,MedGen:C3809824,OMIM:615530, Orphanet:391411213402932534029325GT21:g.34029325G>T-
NM_203446.3(SYNJ1):c.2547T>C (p.Tyr849=)8867SYNJ1Likely benignrs61756207RCV000953864; NMONDO:MONDO:0033362,MedGen:C4479313,OMIM:617389; MONDO:MONDO:0014233,MedGen:C3809824,OMIM:615530, Orphanet:391411213402934534029345AG21:g.34029345A>G-
NM_003895.3(SYNJ1):c.2663A>G (p.Tyr888Cys)8867SYNJ1Pathogenicrs1057524877RCV000445434; NMONDO:MONDO:0033362,MedGen:C4479313,OMIM:617389213402934634029346TC21:g.34029346T>CClinGen:CA16609236,OMIM:604297.0003C4479313 617389 Epileptic encephalopathy, early infantile, 53;
NM_203446.3(SYNJ1):c.2541_2542delinsTT (p.His848Tyr)8867SYNJ1Likely benignrs1601309236RCV000938087; NMONDO:MONDO:0033362,MedGen:C4479313,OMIM:617389; MONDO:MONDO:0014233,MedGen:C3809824,OMIM:615530, Orphanet:391411213402935034029351GCAANC_000021.8:g.34029350_34029351delinsAA-
NM_203446.3(SYNJ1):c.2525C>T (p.Thr842Ile)8867SYNJ1Uncertain significance-1RCV001065439; NMONDO:MONDO:0033362,MedGen:C4479313,OMIM:617389; MONDO:MONDO:0014233,MedGen:C3809824,OMIM:615530, Orphanet:391411213402936734029367GA21:g.34029367G>A-
NM_203446.3(SYNJ1):c.2524A>G (p.Thr842Ala)8867SYNJ1Uncertain significance-1RCV001237104; NMONDO:MONDO:0033362,MedGen:C4479313,OMIM:617389; MONDO:MONDO:0014233,MedGen:C3809824,OMIM:615530, Orphanet:391411213402936834029368TC21:g.34029368T>C-
NM_003895.3(SYNJ1):c.2636C>T (p.Thr879Met)8867SYNJ1Uncertain significancers560413403RCV000793880; NMONDO:MONDO:0033362,MedGen:C4479313,OMIM:617389; MONDO:MONDO:0014233,MedGen:C3809824,OMIM:615530, Orphanet:391411213402937334029373GA21:g.34029373G>A-
NM_203446.3(SYNJ1):c.2505C>A (p.Ser835Arg)8867SYNJ1Uncertain significancers748032685RCV000997820|RCV001042341|RCV001197985; NMedGen:CN517202|MONDO:MONDO:0014233,MedGen:C3809824,OMIM:615530, Orphanet:391411; MONDO:MONDO:0033362,MedGen:C4479313,OMIM:617389|MONDO:MONDO:0033362,MedGen:C4479313,OMIM:617389213402938734029387GT21:g.34029387G>T-
NM_203446.2(SYNJ1):c.2592_2594TCT[1] (p.Leu866del)8867SYNJ1Uncertain significancers769856515RCV000687857; NMONDO:MONDO:0033362,MedGen:C4479313,OMIM:617389; MONDO:MONDO:0014233,MedGen:C3809824,OMIM:615530, Orphanet:391411213402941234029414TAGAT21:g.34029412_34029414del-C4479313 617389 Epileptic encephalopathy, early infantile, 53;
NM_003895.3(SYNJ1):c.2579-6C>A8867SYNJ1Uncertain significancers1601309850RCV000815447; NMONDO:MONDO:0033362,MedGen:C4479313,OMIM:617389; MONDO:MONDO:0014233,MedGen:C3809824,OMIM:615530, Orphanet:391411213402943634029436GT21:g.34029436G>T-
NM_003895.3(SYNJ1):c.2579-10C>G8867SYNJ1Uncertain significancers775703634RCV000655763; NMONDO:MONDO:0033362,MedGen:C4479313,OMIM:617389; MONDO:MONDO:0014233,MedGen:C3809824,OMIM:615530, Orphanet:391411213402944034029440GC21:g.34029440G>CClinGen:CA10003656C4479313 617389 Epileptic encephalopathy, early infantile, 53;
NM_003895.3(SYNJ1):c.2528G>A (p.Trp843Ter)8867SYNJ1Pathogenicrs1057524878RCV000445520; NMONDO:MONDO:0033362,MedGen:C4479313,OMIM:617389213403007634030076CT21:g.34030076C>TClinGen:CA16609237,OMIM:604297.0004C4479313 617389 Epileptic encephalopathy, early infantile, 53;
NM_003895.3(SYNJ1):c.2495A>G (p.Tyr832Cys)8867SYNJ1Uncertain significancers1283151166RCV000703018; NMONDO:MONDO:0033362,MedGen:C4479313,OMIM:617389; MONDO:MONDO:0014233,MedGen:C3809824,OMIM:615530, Orphanet:391411213403010934030109TC21:g.34030109T>C-
NM_203446.3(SYNJ1):c.2364G>C (p.Leu788Phe)8867SYNJ1Uncertain significance-1RCV001040571; NMONDO:MONDO:0033362,MedGen:C4479313,OMIM:617389; MONDO:MONDO:0014233,MedGen:C3809824,OMIM:615530, Orphanet:391411213403012334030123CG21:g.34030123C>G-
NM_003895.3(SYNJ1):c.2463G>A (p.Pro821=)8867SYNJ1Likely benignrs61753644RCV000555768; NMONDO:MONDO:0033362,MedGen:C4479313,OMIM:617389; MONDO:MONDO:0014233,MedGen:C3809824,OMIM:615530, Orphanet:391411213403014134030141CT21:g.34030141C>TClinGen:CA10003678C4479313 617389 Epileptic encephalopathy, early infantile, 53;
NM_203446.3(SYNJ1):c.2282T>C (p.Ile761Thr)8867SYNJ1Uncertain significance-1RCV001070349; NMONDO:MONDO:0033362,MedGen:C4479313,OMIM:617389; MONDO:MONDO:0014233,MedGen:C3809824,OMIM:615530, Orphanet:391411213403724534037245AG21:g.34037245A>G-
NM_003895.3(SYNJ1):c.2371G>T (p.Asp791Tyr)8867SYNJ1Uncertain significancers145978776RCV000695137; NMONDO:MONDO:0033362,MedGen:C4479313,OMIM:617389; MONDO:MONDO:0014233,MedGen:C3809824,OMIM:615530, Orphanet:391411213403727334037273CA21:g.34037273C>A-C4479313 617389 Epileptic encephalopathy, early infantile, 53;
NM_003895.3(SYNJ1):c.2367T>A (p.Asn789Lys)8867SYNJ1Uncertain significancers570501803RCV000809591; NMONDO:MONDO:0033362,MedGen:C4479313,OMIM:617389; MONDO:MONDO:0014233,MedGen:C3809824,OMIM:615530, Orphanet:391411213403727734037277AT21:g.34037277A>T-
NM_203446.3(SYNJ1):c.2236A>C (p.Ile746Leu)8867SYNJ1Uncertain significance-1RCV001063828; NMONDO:MONDO:0033362,MedGen:C4479313,OMIM:617389; MONDO:MONDO:0014233,MedGen:C3809824,OMIM:615530, Orphanet:391411213403729134037291TG21:g.34037291T>G-
NM_003895.3(SYNJ1):c.2343T>A (p.Val781=)8867SYNJ1Benignrs566533509RCV000655770; NMONDO:MONDO:0033362,MedGen:C4479313,OMIM:617389; MONDO:MONDO:0014233,MedGen:C3809824,OMIM:615530, Orphanet:391411213403730134037301AT21:g.34037301A>TClinGen:CA10003708C4479313 617389 Epileptic encephalopathy, early infantile, 53;
NM_203446.3(SYNJ1):c.2205C>T (p.Ile735=)8867SYNJ1Likely benignrs149236383RCV000919206; NMONDO:MONDO:0033362,MedGen:C4479313,OMIM:617389; MONDO:MONDO:0014233,MedGen:C3809824,OMIM:615530, Orphanet:391411213403732234037322GA21:g.34037322G>A-
NM_203446.3(SYNJ1):c.2172T>C (p.Tyr724=)8867SYNJ1Likely benignrs144454116RCV000880161; NMONDO:MONDO:0033362,MedGen:C4479313,OMIM:617389; MONDO:MONDO:0014233,MedGen:C3809824,OMIM:615530, Orphanet:391411213403735534037355AG21:g.34037355A>G-
NM_003895.3(SYNJ1):c.2288A>G (p.Tyr763Cys)8867SYNJ1Uncertain significancers201485861RCV000690036; NMONDO:MONDO:0033362,MedGen:C4479313,OMIM:617389; MONDO:MONDO:0014233,MedGen:C3809824,OMIM:615530, Orphanet:391411213403735634037356TC21:g.34037356T>C-
NM_203446.3(SYNJ1):c.2157A>G (p.Leu719=)8867SYNJ1Likely benignrs112875942RCV000915369; NMONDO:MONDO:0033362,MedGen:C4479313,OMIM:617389; MONDO:MONDO:0014233,MedGen:C3809824,OMIM:615530, Orphanet:391411213403737034037370TC21:g.34037370T>C-
NM_003895.3(SYNJ1):c.2263-8G>A8867SYNJ1Likely benignrs759701632RCV000655781; NMONDO:MONDO:0033362,MedGen:C4479313,OMIM:617389; MONDO:MONDO:0014233,MedGen:C3809824,OMIM:615530, Orphanet:391411213403738934037389CT21:g.34037389C>TClinGen:CA10003721
NM_003895.3(SYNJ1):c.2237T>C (p.Ile746Thr)8867SYNJ1Likely benignrs147929290RCV000655757; NMONDO:MONDO:0033362,MedGen:C4479313,OMIM:617389; MONDO:MONDO:0014233,MedGen:C3809824,OMIM:615530, Orphanet:391411213403827834038278AG21:g.34038278A>GClinGen:CA10003744C4479313 617389 Epileptic encephalopathy, early infantile, 53;
NM_203446.3(SYNJ1):c.2113A>G (p.Ile705Val)8867SYNJ1Uncertain significance-1RCV001042712; NMONDO:MONDO:0033362,MedGen:C4479313,OMIM:617389; MONDO:MONDO:0014233,MedGen:C3809824,OMIM:615530, Orphanet:391411213403828534038285TC21:g.34038285T>C-
NM_003895.3(SYNJ1):c.2207T>C (p.Val736Ala)8867SYNJ1Uncertain significancers764946363RCV000804235; NMONDO:MONDO:0033362,MedGen:C4479313,OMIM:617389; MONDO:MONDO:0014233,MedGen:C3809824,OMIM:615530, Orphanet:391411213403830834038308AG21:g.34038308A>G-
NM_203446.3(SYNJ1):c.2047C>T (p.Leu683Phe)8867SYNJ1Uncertain significance-1RCV001041815; NMONDO:MONDO:0033362,MedGen:C4479313,OMIM:617389; MONDO:MONDO:0014233,MedGen:C3809824,OMIM:615530, Orphanet:391411213403835134038351GA21:g.34038351G>A-
NM_203446.3(SYNJ1):c.1961C>T (p.Ala654Val)8867SYNJ1Uncertain significance-1RCV001215540; NMONDO:MONDO:0033362,MedGen:C4479313,OMIM:617389; MONDO:MONDO:0014233,MedGen:C3809824,OMIM:615530, Orphanet:391411213403843734038437GA21:g.34038437G>A-
NM_003895.3(SYNJ1):c.2074G>A (p.Val692Ile)8867SYNJ1Uncertain significance-1RCV001050555; NMONDO:MONDO:0033362,MedGen:C4479313,OMIM:617389; MONDO:MONDO:0014233,MedGen:C3809824,OMIM:615530, Orphanet:391411213403844134038441CT21:g.34038441C>T-
NM_003895.3(SYNJ1):c.2050_2051delinsAG (p.Gln684Arg)8867SYNJ1Uncertain significancers1555896707RCV000538615; NMONDO:MONDO:0033362,MedGen:C4479313,OMIM:617389; MONDO:MONDO:0014233,MedGen:C3809824,OMIM:615530, Orphanet:391411213403876134038762TGCTNC_000021.8:g.34038761_34038762delinsCTClinGen:CA658658885
NM_003895.3(SYNJ1):c.2031G>A (p.Leu677=)8867SYNJ1Benignrs534908601RCV000655771; NMONDO:MONDO:0033362,MedGen:C4479313,OMIM:617389; MONDO:MONDO:0014233,MedGen:C3809824,OMIM:615530, Orphanet:391411213403878134038781CT21:g.34038781C>TClinGen:CA10003778
NM_003895.3(SYNJ1):c.2023G>A (p.Val675Ile)8867SYNJ1Conflicting interpretations of pathogenicityrs373820739RCV000527465|RCV000784961|RCV000784962|RCV000784963; NMONDO:MONDO:0033362,MedGen:C4479313,OMIM:617389; MONDO:MONDO:0014233,MedGen:C3809824,OMIM:615530, Orphanet:391411|MONDO:MONDO:0010632,MedGen:C3463992,OMIM:308350|MONDO:MONDO:0014233,MedGen:C3809824,OMIM:615530, Orphanet:391411|MONDO:MONDO:0033362,MedGen:C4213403878934038789CT21:g.34038789C>TClinGen:CA10003779
NM_203446.3(SYNJ1):c.1886C>T (p.Ala629Val)8867SYNJ1Uncertain significance-1RCV001245514; NMONDO:MONDO:0033362,MedGen:C4479313,OMIM:617389; MONDO:MONDO:0014233,MedGen:C3809824,OMIM:615530, Orphanet:391411213403880934038809GA21:g.34038809G>A-
NM_203446.3(SYNJ1):c.1878G>A (p.Val626=)8867SYNJ1Likely benignrs1601348321RCV000981561; NMONDO:MONDO:0033362,MedGen:C4479313,OMIM:617389; MONDO:MONDO:0014233,MedGen:C3809824,OMIM:615530, Orphanet:391411213403881734038817CT21:g.34038817C>T-
NM_203446.3(SYNJ1):c.1876G>A (p.Val626Met)8867SYNJ1Uncertain significance-1RCV001039021; NMONDO:MONDO:0033362,MedGen:C4479313,OMIM:617389; MONDO:MONDO:0014233,MedGen:C3809824,OMIM:615530, Orphanet:391411213403881934038819CT21:g.34038819C>T-
NM_203446.3(SYNJ1):c.1867A>G (p.Asn623Asp)8867SYNJ1Uncertain significance-1RCV001210497; NMONDO:MONDO:0033362,MedGen:C4479313,OMIM:617389; MONDO:MONDO:0014233,MedGen:C3809824,OMIM:615530, Orphanet:391411213403882834038828TC21:g.34038828T>C-
NM_203446.3(SYNJ1):c.1846C>A (p.Gln616Lys)8867SYNJ1Uncertain significance-1RCV001224989; NMONDO:MONDO:0033362,MedGen:C4479313,OMIM:617389; MONDO:MONDO:0014233,MedGen:C3809824,OMIM:615530, Orphanet:391411213403884934038849GT21:g.34038849G>T-
NM_203446.3(SYNJ1):c.1835C>A (p.Ala612Asp)8867SYNJ1Uncertain significance-1RCV001059002; NMONDO:MONDO:0033362,MedGen:C4479313,OMIM:617389; MONDO:MONDO:0014233,MedGen:C3809824,OMIM:615530, Orphanet:391411213403886034038860GT21:g.34038860G>T-
NM_003895.3(SYNJ1):c.1949G>T (p.Trp650Leu)8867SYNJ1Uncertain significancers1481650772RCV000655765; NMONDO:MONDO:0033362,MedGen:C4479313,OMIM:617389; MONDO:MONDO:0014233,MedGen:C3809824,OMIM:615530, Orphanet:391411213403886334038863CA21:g.34038863C>AClinGen:CA410081076
NM_003895.3(SYNJ1):c.1947C>G (p.Leu649=)8867SYNJ1Likely benignrs115658799RCV000551316; NMONDO:MONDO:0033362,MedGen:C4479313,OMIM:617389; MONDO:MONDO:0014233,MedGen:C3809824,OMIM:615530, Orphanet:391411213403886534038865GC21:g.34038865G>CClinGen:CA10003788C4479313 617389 Epileptic encephalopathy, early infantile, 53;
NM_003895.3(SYNJ1):c.1938del (p.Gln647fs)8867SYNJ1Pathogenicrs1057524879RCV000445368|RCV001266775; NMONDO:MONDO:0033362,MedGen:C4479313,OMIM:617389|MeSH:D030342,MedGen:C0950123213403887434038874GAG21:g.34038874_34038874delClinGen:CA16609238,OMIM:604297.0005
NM_203446.3(SYNJ1):c.1812-10T>A8867SYNJ1Uncertain significance-1RCV001240182; NMONDO:MONDO:0033362,MedGen:C4479313,OMIM:617389; MONDO:MONDO:0014233,MedGen:C3809824,OMIM:615530, Orphanet:391411213403889334038893AT21:g.34038893A>T-
NM_003895.3(SYNJ1):c.1906G>A (p.Ala636Thr)8867SYNJ1Uncertain significancers1601363222RCV000795490; NMONDO:MONDO:0033362,MedGen:C4479313,OMIM:617389; MONDO:MONDO:0014233,MedGen:C3809824,OMIM:615530, Orphanet:391411213404262034042620CT21:g.34042620C>T-
NM_203446.3(SYNJ1):c.1717G>C (p.Glu573Gln)8867SYNJ1Uncertain significance-1RCV001209351; NMONDO:MONDO:0033362,MedGen:C4479313,OMIM:617389; MONDO:MONDO:0014233,MedGen:C3809824,OMIM:615530, Orphanet:391411213404565934045659CG21:g.34045659C>G-
NM_203446.3(SYNJ1):c.1707T>G (p.Ala569=)8867SYNJ1Likely benignrs1384171922RCV000891130; NMONDO:MONDO:0033362,MedGen:C4479313,OMIM:617389; MONDO:MONDO:0014233,MedGen:C3809824,OMIM:615530, Orphanet:391411213404566934045669AC21:g.34045669A>C-
NM_203446.3(SYNJ1):c.1625T>G (p.Val542Gly)8867SYNJ1Uncertain significance-1RCV001197986; NMONDO:MONDO:0033362,MedGen:C4479313,OMIM:617389213404575134045751AC21:g.34045751A>C-
NM_203446.3(SYNJ1):c.1611C>T (p.Val537=)8867SYNJ1Likely benignrs150180190RCV000977583; NMONDO:MONDO:0033362,MedGen:C4479313,OMIM:617389; MONDO:MONDO:0014233,MedGen:C3809824,OMIM:615530, Orphanet:391411213404576534045765GA21:g.34045765G>A-
NM_003895.3(SYNJ1):c.1726G>A (p.Val576Ile)8867SYNJ1Uncertain significancers1555898799RCV000655753; NMONDO:MONDO:0033362,MedGen:C4479313,OMIM:617389; MONDO:MONDO:0014233,MedGen:C3809824,OMIM:615530, Orphanet:391411213404576734045767CT21:g.34045767C>TClinGen:CA410085364
NM_003895.3(SYNJ1):c.1720G>A (p.Val574Ile)8867SYNJ1Uncertain significancers145712835RCV000698348; NMONDO:MONDO:0033362,MedGen:C4479313,OMIM:617389; MONDO:MONDO:0014233,MedGen:C3809824,OMIM:615530, Orphanet:391411213404577334045773CT21:g.34045773C>T-
NM_003895.3(SYNJ1):c.1672A>G (p.Ser558Gly)8867SYNJ1Uncertain significancers148901211RCV000538976|RCV001171961; NMONDO:MONDO:0033362,MedGen:C4479313,OMIM:617389; MONDO:MONDO:0014233,MedGen:C3809824,OMIM:615530, Orphanet:391411|MedGen:CN517202213404582134045821TC21:g.34045821T>CClinGen:CA10003845C4479313 617389 Epileptic encephalopathy, early infantile, 53;
NM_003895.3(SYNJ1):c.1671G>C (p.Lys557Asn)8867SYNJ1Uncertain significancers371301276RCV000822292; NMONDO:MONDO:0033362,MedGen:C4479313,OMIM:617389; MONDO:MONDO:0014233,MedGen:C3809824,OMIM:615530, Orphanet:391411213404582234045822CG21:g.34045822C>G-
NM_003895.3(SYNJ1):c.1663G>A (p.Val555Ile)8867SYNJ1Benignrs113708828RCV000526405; NMONDO:MONDO:0033362,MedGen:C4479313,OMIM:617389; MONDO:MONDO:0014233,MedGen:C3809824,OMIM:615530, Orphanet:391411213404583034045830CT21:g.34045830C>TClinGen:CA10003848C4479313 617389 Epileptic encephalopathy, early infantile, 53;
NM_003895.3(SYNJ1):c.1652C>T (p.Ala551Val)8867SYNJ1Likely benignrs115989459RCV000655776; NMONDO:MONDO:0033362,MedGen:C4479313,OMIM:617389; MONDO:MONDO:0014233,MedGen:C3809824,OMIM:615530, Orphanet:391411213404584134045841GA21:g.34045841G>AClinGen:CA10003850
NM_203446.3(SYNJ1):c.1534+5A>G8867SYNJ1Uncertain significance-1RCV001062078; NMONDO:MONDO:0033362,MedGen:C4479313,OMIM:617389; MONDO:MONDO:0014233,MedGen:C3809824,OMIM:615530, Orphanet:391411213404863734048637TC21:g.34048637T>C-
NM_203446.3(SYNJ1):c.1511-4A>G8867SYNJ1Likely benignrs533995497RCV000941256; NMONDO:MONDO:0033362,MedGen:C4479313,OMIM:617389; MONDO:MONDO:0014233,MedGen:C3809824,OMIM:615530, Orphanet:391411213404866934048669TC21:g.34048669T>C-
NM_003895.3(SYNJ1):c.1625G>A (p.Arg542His)8867SYNJ1Uncertain significancers756697570RCV000696652; NMONDO:MONDO:0033362,MedGen:C4479313,OMIM:617389; MONDO:MONDO:0014233,MedGen:C3809824,OMIM:615530, Orphanet:391411213405095734050957CT21:g.34050957C>T-C4479313 617389 Epileptic encephalopathy, early infantile, 53;
NM_003895.3(SYNJ1):c.1624C>T (p.Arg542Cys)8867SYNJ1Uncertain significancers115061921RCV000799986; NMONDO:MONDO:0033362,MedGen:C4479313,OMIM:617389; MONDO:MONDO:0014233,MedGen:C3809824,OMIM:615530, Orphanet:391411213405095834050958GA21:g.34050958G>A-
NM_003895.3(SYNJ1):c.1598G>A (p.Arg533Gln)8867SYNJ1Uncertain significancers781599934RCV000538149; NMONDO:MONDO:0033362,MedGen:C4479313,OMIM:617389; MONDO:MONDO:0014233,MedGen:C3809824,OMIM:615530, Orphanet:391411213405098434050984CT21:g.34050984C>TClinGen:CA10003896C4479313 617389 Epileptic encephalopathy, early infantile, 53;
NM_003895.3(SYNJ1):c.1583T>C (p.Leu528Ser)8867SYNJ1Uncertain significancers1238065971RCV000655761; NMONDO:MONDO:0033362,MedGen:C4479313,OMIM:617389; MONDO:MONDO:0014233,MedGen:C3809824,OMIM:615530, Orphanet:391411213405099934050999AG21:g.34050999A>GClinGen:CA410089203C4479313 617389 Epileptic encephalopathy, early infantile, 53;
NM_203446.3(SYNJ1):c.1465T>G (p.Leu489Val)8867SYNJ1Uncertain significance-1RCV001208621; NMONDO:MONDO:0033362,MedGen:C4479313,OMIM:617389; MONDO:MONDO:0014233,MedGen:C3809824,OMIM:615530, Orphanet:391411213405100034051000AC21:g.34051000A>C-
NM_003895.3(SYNJ1):c.1566T>G (p.Asn522Lys)8867SYNJ1Uncertain significancers1490214505RCV000817025; NMONDO:MONDO:0033362,MedGen:C4479313,OMIM:617389; MONDO:MONDO:0014233,MedGen:C3809824,OMIM:615530, Orphanet:391411213405101634051016AC21:g.34051016A>C-
NM_203446.3(SYNJ1):c.1367C>A (p.Ala456Asp)8867SYNJ1Uncertain significance-1RCV001248168; NMONDO:MONDO:0033362,MedGen:C4479313,OMIM:617389; MONDO:MONDO:0014233,MedGen:C3809824,OMIM:615530, Orphanet:391411213405109834051098GT21:g.34051098G>T-
NM_203446.3(SYNJ1):c.1353+5A>G8867SYNJ1Uncertain significance-1RCV001217662; NMONDO:MONDO:0033362,MedGen:C4479313,OMIM:617389; MONDO:MONDO:0014233,MedGen:C3809824,OMIM:615530, Orphanet:391411213405380134053801TC21:g.34053801T>C-
NM_203446.3(SYNJ1):c.1349C>A (p.Ala450Glu)8867SYNJ1Uncertain significance-1RCV001059202; NMONDO:MONDO:0033362,MedGen:C4479313,OMIM:617389; MONDO:MONDO:0014233,MedGen:C3809824,OMIM:615530, Orphanet:391411213405381034053810GT21:g.34053810G>T-
NM_003895.3(SYNJ1):c.1423A>G (p.Ile475Val)8867SYNJ1Uncertain significancers763870801RCV000655754; NMONDO:MONDO:0033362,MedGen:C4479313,OMIM:617389; MONDO:MONDO:0014233,MedGen:C3809824,OMIM:615530, Orphanet:391411213405385334053853TC21:g.34053853T>CClinGen:CA10003924
NM_003895.3(SYNJ1):c.1408G>A (p.Val470Met)8867SYNJ1Uncertain significancers749980859RCV000800971; NMONDO:MONDO:0033362,MedGen:C4479313,OMIM:617389; MONDO:MONDO:0014233,MedGen:C3809824,OMIM:615530, Orphanet:391411213405386834053868CT21:g.34053868C>T-
NM_203446.3(SYNJ1):c.1277G>A (p.Arg426Gln)8867SYNJ1Uncertain significancers1601403500RCV000997823|RCV001205779; NMedGen:CN517202|MONDO:MONDO:0033362,MedGen:C4479313,OMIM:617389; MONDO:MONDO:0014233,MedGen:C3809824,OMIM:615530, Orphanet:391411213405388234053882CT21:g.34053882C>T-
NM_203446.3(SYNJ1):c.1245T>C (p.Pro415=)8867SYNJ1Likely benignrs111655347RCV000915370; NMONDO:MONDO:0033362,MedGen:C4479313,OMIM:617389; MONDO:MONDO:0014233,MedGen:C3809824,OMIM:615530, Orphanet:391411213405391434053914AG21:g.34053914A>G-
NM_003895.3(SYNJ1):c.1318-2A>G8867SYNJ1Likely pathogenicrs1569086116RCV000691672; NMONDO:MONDO:0033362,MedGen:C4479313,OMIM:617389; MONDO:MONDO:0014233,MedGen:C3809824,OMIM:615530, Orphanet:391411213405396034053960TC21:g.34053960T>C-C4479313 617389 Epileptic encephalopathy, early infantile, 53;
NM_203446.3(SYNJ1):c.1157G>T (p.Cys386Phe)8867SYNJ1Uncertain significance-1RCV001030790; NMONDO:MONDO:0033362,MedGen:C4479313,OMIM:617389213405639134056391CA21:g.34056391C>A-
NM_203446.3(SYNJ1):c.1157G>A (p.Cys386Tyr)8867SYNJ1Uncertain significance-1RCV001053016; NMONDO:MONDO:0033362,MedGen:C4479313,OMIM:617389; MONDO:MONDO:0014233,MedGen:C3809824,OMIM:615530, Orphanet:391411213405639134056391CT21:g.34056391C>T-
NM_203446.3(SYNJ1):c.1126A>G (p.Ser376Gly)8867SYNJ1Uncertain significance-1RCV001046908; NMONDO:MONDO:0033362,MedGen:C4479313,OMIM:617389; MONDO:MONDO:0014233,MedGen:C3809824,OMIM:615530, Orphanet:391411213405642234056422TC21:g.34056422T>C-
NM_003895.3(SYNJ1):c.1236-8G>T8867SYNJ1Benignrs138882423RCV000548562; NMONDO:MONDO:0033362,MedGen:C4479313,OMIM:617389; MONDO:MONDO:0014233,MedGen:C3809824,OMIM:615530, Orphanet:391411213405643734056437CA21:g.34056437C>AClinGen:CA10003962C4479313 617389 Epileptic encephalopathy, early infantile, 53;
NM_003895.3(SYNJ1):c.1223G>A (p.Ser408Asn)8867SYNJ1Uncertain significancers147544792RCV000706776; NMONDO:MONDO:0033362,MedGen:C4479313,OMIM:617389; MONDO:MONDO:0014233,MedGen:C3809824,OMIM:615530, Orphanet:391411213405807034058070CT21:g.34058070C>T-C4479313 617389 Epileptic encephalopathy, early infantile, 53;
NM_203446.3(SYNJ1):c.1081T>A (p.Tyr361Asn)8867SYNJ1Benignrs533216340RCV000908890; NMONDO:MONDO:0033362,MedGen:C4479313,OMIM:617389; MONDO:MONDO:0014233,MedGen:C3809824,OMIM:615530, Orphanet:391411213405809534058095AT21:g.34058095A>T-
NM_203446.3(SYNJ1):c.1046G>T (p.Ser349Ile)8867SYNJ1Uncertain significance-1RCV001226521; NMONDO:MONDO:0033362,MedGen:C4479313,OMIM:617389; MONDO:MONDO:0014233,MedGen:C3809824,OMIM:615530, Orphanet:391411213405813034058130CA21:g.34058130C>A-
NM_203446.3(SYNJ1):c.1042C>A (p.His348Asn)8867SYNJ1Uncertain significance-1RCV001229270; NMONDO:MONDO:0033362,MedGen:C4479313,OMIM:617389; MONDO:MONDO:0014233,MedGen:C3809824,OMIM:615530, Orphanet:391411213405813434058134GT21:g.34058134G>T-
NM_003895.3(SYNJ1):c.1147G>A (p.Ala383Thr)8867SYNJ1Likely benignrs114942253RCV000535919|RCV001086242; NMedGen:CN517202|MONDO:MONDO:0033362,MedGen:C4479313,OMIM:617389; MONDO:MONDO:0014233,MedGen:C3809824,OMIM:615530, Orphanet:391411213405814634058146CT21:g.34058146C>TClinGen:CA10003981
NM_003895.3(SYNJ1):c.1121A>C (p.Tyr374Ser)8867SYNJ1Uncertain significancers1469620917RCV000823534; NMONDO:MONDO:0033362,MedGen:C4479313,OMIM:617389; MONDO:MONDO:0014233,MedGen:C3809824,OMIM:615530, Orphanet:391411213405817234058172TG21:g.34058172T>G-
NM_003895.3(SYNJ1):c.1119C>T (p.Asp373=)8867SYNJ1Likely benignrs763601982RCV000560027; NMONDO:MONDO:0033362,MedGen:C4479313,OMIM:617389; MONDO:MONDO:0014233,MedGen:C3809824,OMIM:615530, Orphanet:391411213405817434058174GA21:g.34058174G>AClinGen:CA319447596C4479313 617389 Epileptic encephalopathy, early infantile, 53;
NM_003895.3(SYNJ1):c.1047G>A (p.Met349Ile)8867SYNJ1Uncertain significancers749045961RCV000697724; NMONDO:MONDO:0033362,MedGen:C4479313,OMIM:617389; MONDO:MONDO:0014233,MedGen:C3809824,OMIM:615530, Orphanet:391411213405930634059306CT21:g.34059306C>T-C4479313 617389 Epileptic encephalopathy, early infantile, 53;
NM_003895.3(SYNJ1):c.1026A>G (p.Gly342=)8867SYNJ1Likely benignrs145522240RCV000542163; NMONDO:MONDO:0033362,MedGen:C4479313,OMIM:617389; MONDO:MONDO:0014233,MedGen:C3809824,OMIM:615530, Orphanet:391411213405932734059327TC21:g.34059327T>CClinGen:CA10004004C4479313 617389 Epileptic encephalopathy, early infantile, 53;
NM_203446.3(SYNJ1):c.889A>G (p.Ile297Val)8867SYNJ1Uncertain significance-1RCV001242296; NMONDO:MONDO:0033362,MedGen:C4479313,OMIM:617389; MONDO:MONDO:0014233,MedGen:C3809824,OMIM:615530, Orphanet:391411213405934734059347TC21:g.34059347T>C-
NM_203446.3(SYNJ1):c.883A>C (p.Lys295Gln)8867SYNJ1Likely benignrs554456240RCV000878467; NMONDO:MONDO:0033362,MedGen:C4479313,OMIM:617389; MONDO:MONDO:0014233,MedGen:C3809824,OMIM:615530, Orphanet:391411213405935334059353TG21:g.34059353T>G-
NM_203446.3(SYNJ1):c.862A>C (p.Thr288Pro)8867SYNJ1Uncertain significance-1RCV001205807; NMONDO:MONDO:0033362,MedGen:C4479313,OMIM:617389; MONDO:MONDO:0014233,MedGen:C3809824,OMIM:615530, Orphanet:391411213405937434059374TG21:g.34059374T>G-
NM_003895.3(SYNJ1):c.960T>C (p.Ala320=)8867SYNJ1Likely benignrs372016074RCV000534789; NMONDO:MONDO:0033362,MedGen:C4479313,OMIM:617389; MONDO:MONDO:0014233,MedGen:C3809824,OMIM:615530, Orphanet:391411213406062434060624AG21:g.34060624A>GClinGen:CA10004029C4479313 617389 Epileptic encephalopathy, early infantile, 53;
NM_003895.3(SYNJ1):c.959C>G (p.Ala320Gly)8867SYNJ1Uncertain significancers1046699971RCV000527006; NMONDO:MONDO:0033362,MedGen:C4479313,OMIM:617389; MONDO:MONDO:0014233,MedGen:C3809824,OMIM:615530, Orphanet:391411213406062534060625GC21:g.34060625G>CClinGen:CA410094159C4479313 617389 Epileptic encephalopathy, early infantile, 53;
NM_203446.3(SYNJ1):c.841G>C (p.Ala281Pro)8867SYNJ1Uncertain significance-1RCV001235058; NMONDO:MONDO:0033362,MedGen:C4479313,OMIM:617389; MONDO:MONDO:0014233,MedGen:C3809824,OMIM:615530, Orphanet:391411213406062634060626CG21:g.34060626C>G-
NM_203446.3(SYNJ1):c.831C>T (p.Ala277=)8867SYNJ1Likely benignrs148732160RCV000904198; NMONDO:MONDO:0033362,MedGen:C4479313,OMIM:617389; MONDO:MONDO:0014233,MedGen:C3809824,OMIM:615530, Orphanet:391411213406063634060636GA21:g.34060636G>A-
NM_003895.3(SYNJ1):c.926G>A (p.Arg309His)8867SYNJ1Uncertain significancers532075408RCV000655750; NMONDO:MONDO:0033362,MedGen:C4479313,OMIM:617389; MONDO:MONDO:0014233,MedGen:C3809824,OMIM:615530, Orphanet:391411213406065834060658CT21:g.34060658C>TClinGen:CA10004035
NM_003895.3(SYNJ1):c.925C>T (p.Arg309Cys)8867SYNJ1Uncertain significancers547450707RCV000550869; NMONDO:MONDO:0033362,MedGen:C4479313,OMIM:617389; MONDO:MONDO:0014233,MedGen:C3809824,OMIM:615530, Orphanet:391411213406065934060659GA21:g.34060659G>AClinGen:CA10004036C4479313 617389 Epileptic encephalopathy, early infantile, 53;
NM_003895.3(SYNJ1):c.920G>A (p.Arg307His)8867SYNJ1Uncertain significancers201796096RCV000699530|RCV001197963; NMONDO:MONDO:0014233,MedGen:C3809824,OMIM:615530, Orphanet:391411; MONDO:MONDO:0033362,MedGen:C4479313,OMIM:617389|MONDO:MONDO:0033362,MedGen:C4479313,OMIM:617389213406066434060664CT21:g.34060664C>T-C4479313 617389 Epileptic encephalopathy, early infantile, 53;
NM_203446.3(SYNJ1):c.790-6T>G8867SYNJ1Uncertain significance-1RCV001214753; NMONDO:MONDO:0033362,MedGen:C4479313,OMIM:617389; MONDO:MONDO:0014233,MedGen:C3809824,OMIM:615530, Orphanet:391411213406068334060683AC21:g.34060683A>C-
NM_203446.3(SYNJ1):c.789+8_789+11del8867SYNJ1Likely benignrs751922511RCV000900088; NMONDO:MONDO:0033362,MedGen:C4479313,OMIM:617389; MONDO:MONDO:0014233,MedGen:C3809824,OMIM:615530, Orphanet:391411213406652734066530TCAAAT21:g.34066527_34066530del-
NM_203446.3(SYNJ1):c.789+1G>A8867SYNJ1Likely pathogenic-1RCV001236322; NMONDO:MONDO:0033362,MedGen:C4479313,OMIM:617389; MONDO:MONDO:0014233,MedGen:C3809824,OMIM:615530, Orphanet:391411213406653734066537CT21:g.34066537C>T-
NM_003895.3(SYNJ1):c.885C>G (p.Phe295Leu)8867SYNJ1Uncertain significancers1456955061RCV000822274; NMONDO:MONDO:0033362,MedGen:C4479313,OMIM:617389; MONDO:MONDO:0014233,MedGen:C3809824,OMIM:615530, Orphanet:391411213406655934066559GC21:g.34066559G>C-
NM_203446.3(SYNJ1):c.749G>A (p.Arg250Gln)8867SYNJ1Uncertain significance-1RCV001208004; NMONDO:MONDO:0033362,MedGen:C4479313,OMIM:617389; MONDO:MONDO:0014233,MedGen:C3809824,OMIM:615530, Orphanet:391411213406657834066578CT21:g.34066578C>T-
NM_203446.3(SYNJ1):c.706-15dup8867SYNJ1Benignrs202044634RCV000655779; NMONDO:MONDO:0033362,MedGen:C4479313,OMIM:617389; MONDO:MONDO:0014233,MedGen:C3809824,OMIM:615530, Orphanet:391411213406662734066628GGA21:g.34066627_34066628insAClinGen:CA10004067C4479313 617389 Epileptic encephalopathy, early infantile, 53;
NM_203446.3(SYNJ1):c.706-7del8867SYNJ1Benignrs202044634RCV000976426; NMONDO:MONDO:0033362,MedGen:C4479313,OMIM:617389; MONDO:MONDO:0014233,MedGen:C3809824,OMIM:615530, Orphanet:391411213406662834066628GAG21:g.34066628_34066628del-
NM_003895.3(SYNJ1):c.822+7A>G8867SYNJ1Benignrs187016397RCV000713737|RCV001082091; NMedGen:CN517202|MONDO:MONDO:0033362,MedGen:C4479313,OMIM:617389; MONDO:MONDO:0014233,MedGen:C3809824,OMIM:615530, Orphanet:391411213406736034067360TC21:g.34067360T>CClinGen:CA10004091C4479313 617389 Epileptic encephalopathy, early infantile, 53;
NM_003895.3(SYNJ1):c.747A>T (p.Glu249Asp)8867SYNJ1Uncertain significancers1377390036RCV000690772; NMONDO:MONDO:0033362,MedGen:C4479313,OMIM:617389; MONDO:MONDO:0014233,MedGen:C3809824,OMIM:615530, Orphanet:391411213406744234067442TA21:g.34067442T>A-C4479313 617389 Epileptic encephalopathy, early infantile, 53;
NM_003895.3(SYNJ1):c.739A>G (p.Ser247Gly)8867SYNJ1Uncertain significancers1601449471RCV000801143; NMONDO:MONDO:0033362,MedGen:C4479313,OMIM:617389; MONDO:MONDO:0014233,MedGen:C3809824,OMIM:615530, Orphanet:391411213406745034067450TC21:g.34067450T>C-
NM_203446.3(SYNJ1):c.592C>A (p.Gln198Lys)8867SYNJ1Uncertain significance-1RCV001209987; NMONDO:MONDO:0033362,MedGen:C4479313,OMIM:617389; MONDO:MONDO:0014233,MedGen:C3809824,OMIM:615530, Orphanet:391411213406748034067480GT21:g.34067480G>T-
NM_003895.3(SYNJ1):c.700G>A (p.Ala234Thr)8867SYNJ1Uncertain significancers774367309RCV000808944; NMONDO:MONDO:0033362,MedGen:C4479313,OMIM:617389; MONDO:MONDO:0014233,MedGen:C3809824,OMIM:615530, Orphanet:391411213406748934067489CT21:g.34067489C>T-
NM_003895.3(SYNJ1):c.690A>G (p.Thr230=)8867SYNJ1Benignrs61756694RCV000713736|RCV001081845; NMedGen:CN517202|MONDO:MONDO:0033362,MedGen:C4479313,OMIM:617389; MONDO:MONDO:0014233,MedGen:C3809824,OMIM:615530, Orphanet:391411213406749934067499TC21:g.34067499T>CClinGen:CA10004106
NM_203446.3(SYNJ1):c.564A>C (p.Glu188Asp)8867SYNJ1Uncertain significance-1RCV001049838; NMONDO:MONDO:0033362,MedGen:C4479313,OMIM:617389; MONDO:MONDO:0014233,MedGen:C3809824,OMIM:615530, Orphanet:391411213406750834067508TG21:g.34067508T>G-
NM_203446.3(SYNJ1):c.550T>A (p.Cys184Ser)8867SYNJ1Uncertain significance-1RCV001229562; NMONDO:MONDO:0033362,MedGen:C4479313,OMIM:617389; MONDO:MONDO:0014233,MedGen:C3809824,OMIM:615530, Orphanet:391411213406752234067522AT21:g.34067522A>T-
NM_203446.3(SYNJ1):c.542G>A (p.Arg181His)8867SYNJ1Uncertain significance-1RCV001244430; NMONDO:MONDO:0033362,MedGen:C4479313,OMIM:617389; MONDO:MONDO:0014233,MedGen:C3809824,OMIM:615530, Orphanet:391411213406753034067530CT21:g.34067530C>T-
NM_003895.3(SYNJ1):c.596+9A>G8867SYNJ1Benignrs76502784RCV000545547|RCV000713735; NMONDO:MONDO:0033362,MedGen:C4479313,OMIM:617389; MONDO:MONDO:0014233,MedGen:C3809824,OMIM:615530, Orphanet:391411|MedGen:CN517202213407213934072139TC21:g.34072139T>CClinGen:CA10004128
NM_003895.3(SYNJ1):c.587G>C (p.Arg196Thr)8867SYNJ1Uncertain significancers375831365RCV000707208; NMONDO:MONDO:0033362,MedGen:C4479313,OMIM:617389; MONDO:MONDO:0014233,MedGen:C3809824,OMIM:615530, Orphanet:391411213407215734072157CG21:g.34072157C>G-
NM_203446.3(SYNJ1):c.443G>A (p.Ser148Asn)8867SYNJ1Uncertain significance-1RCV001223144; NMONDO:MONDO:0033362,MedGen:C4479313,OMIM:617389; MONDO:MONDO:0014233,MedGen:C3809824,OMIM:615530, Orphanet:391411213407218434072184CT21:g.34072184C>T-
NM_203446.3(SYNJ1):c.434C>T (p.Ala145Val)8867SYNJ1Uncertain significance-1RCV001214796; NMONDO:MONDO:0033362,MedGen:C4479313,OMIM:617389; MONDO:MONDO:0014233,MedGen:C3809824,OMIM:615530, Orphanet:391411213407219334072193GA21:g.34072193G>A-
NM_003895.3(SYNJ1):c.538T>C (p.Leu180=)8867SYNJ1Likely benignrs140461566RCV000537465; NMONDO:MONDO:0033362,MedGen:C4479313,OMIM:617389; MONDO:MONDO:0014233,MedGen:C3809824,OMIM:615530, Orphanet:391411213407220634072206AG21:g.34072206A>GClinGen:CA10004143C4479313 617389 Epileptic encephalopathy, early infantile, 53;
NM_203446.3(SYNJ1):c.407G>A (p.Gly136Asp)8867SYNJ1Uncertain significance-1RCV001068914; NMONDO:MONDO:0033362,MedGen:C4479313,OMIM:617389; MONDO:MONDO:0014233,MedGen:C3809824,OMIM:615530, Orphanet:391411213407222034072220CT21:g.34072220C>T-
NM_203446.3(SYNJ1):c.356T>C (p.Val119Ala)8867SYNJ1Uncertain significance-1RCV001065451; NMONDO:MONDO:0033362,MedGen:C4479313,OMIM:617389; MONDO:MONDO:0014233,MedGen:C3809824,OMIM:615530, Orphanet:391411213407227134072271AG21:g.34072271A>G-
NM_203446.3(SYNJ1):c.344G>T (p.Arg115Leu)8867SYNJ1Uncertain significance-1RCV001205777; NMONDO:MONDO:0033362,MedGen:C4479313,OMIM:617389; MONDO:MONDO:0014233,MedGen:C3809824,OMIM:615530, Orphanet:391411213407228334072283CA21:g.34072283C>A-
NM_003895.3(SYNJ1):c.443A>T (p.Asp148Val)8867SYNJ1Uncertain significancers764528223RCV000796372; NMONDO:MONDO:0033362,MedGen:C4479313,OMIM:617389; MONDO:MONDO:0014233,MedGen:C3809824,OMIM:615530, Orphanet:391411213407230134072301TA21:g.34072301T>A-
NM_003895.3(SYNJ1):c.428T>C (p.Ile143Thr)8867SYNJ1Uncertain significancers779426150RCV000655748; NMONDO:MONDO:0033362,MedGen:C4479313,OMIM:617389; MONDO:MONDO:0014233,MedGen:C3809824,OMIM:615530, Orphanet:391411213407231634072316AG21:g.34072316A>GClinGen:CA10004158
NM_203446.3(SYNJ1):c.254T>A (p.Met85Lys)8867SYNJ1Uncertain significance-1RCV001041336; NMONDO:MONDO:0033362,MedGen:C4479313,OMIM:617389; MONDO:MONDO:0014233,MedGen:C3809824,OMIM:615530, Orphanet:391411213407237334072373AT21:g.34072373A>T-
NM_203446.3(SYNJ1):c.244A>T (p.Thr82Ser)8867SYNJ1Uncertain significance-1RCV001069394; NMONDO:MONDO:0033362,MedGen:C4479313,OMIM:617389; MONDO:MONDO:0014233,MedGen:C3809824,OMIM:615530, Orphanet:391411213407238334072383TA21:g.34072383T>A-
NM_203446.3(SYNJ1):c.220A>G (p.Met74Val)8867SYNJ1Uncertain significance-1RCV001056698; NMONDO:MONDO:0033362,MedGen:C4479313,OMIM:617389; MONDO:MONDO:0014233,MedGen:C3809824,OMIM:615530, Orphanet:391411213407240734072407TC21:g.34072407T>C-
NM_203446.3(SYNJ1):c.212G>A (p.Gly71Asp)8867SYNJ1Uncertain significance-1RCV001056802; NMONDO:MONDO:0033362,MedGen:C4479313,OMIM:617389; MONDO:MONDO:0014233,MedGen:C3809824,OMIM:615530, Orphanet:391411213407241534072415CT21:g.34072415C>T-
NM_003895.3(SYNJ1):c.328G>C (p.Gly110Arg)8867SYNJ1Uncertain significancers1569113660RCV000685571; NMONDO:MONDO:0033362,MedGen:C4479313,OMIM:617389; MONDO:MONDO:0014233,MedGen:C3809824,OMIM:615530, Orphanet:391411213407427134074271CG21:g.34074271C>G-C4479313 617389 Epileptic encephalopathy, early infantile, 53;
NM_003895.3(SYNJ1):c.317G>A (p.Arg106Gln)8867SYNJ1Uncertain significancers969446324RCV000803592; NMONDO:MONDO:0033362,MedGen:C4479313,OMIM:617389; MONDO:MONDO:0014233,MedGen:C3809824,OMIM:615530, Orphanet:391411213407428234074282CT21:g.34074282C>T-
NM_003895.3(SYNJ1):c.316C>T (p.Arg106Trp)8867SYNJ1Uncertain significancers372488661RCV000655745; NMONDO:MONDO:0033362,MedGen:C4479313,OMIM:617389; MONDO:MONDO:0014233,MedGen:C3809824,OMIM:615530, Orphanet:391411213407428334074283GA21:g.34074283G>AClinGen:CA10004185C4479313 617389 Epileptic encephalopathy, early infantile, 53;
NM_003895.3(SYNJ1):c.294A>G (p.Ala98=)8867SYNJ1Uncertain significancers749212329RCV000822850; NMONDO:MONDO:0033362,MedGen:C4479313,OMIM:617389; MONDO:MONDO:0014233,MedGen:C3809824,OMIM:615530, Orphanet:391411213407430534074305TC21:g.34074305T>C-
NM_003895.3(SYNJ1):c.282A>G (p.Lys94=)8867SYNJ1Likely benignrs141138675RCV000655778; NMONDO:MONDO:0033362,MedGen:C4479313,OMIM:617389; MONDO:MONDO:0014233,MedGen:C3809824,OMIM:615530, Orphanet:391411213407431734074317TC21:g.34074317T>CClinGen:CA10004189
NM_203446.3(SYNJ1):c.133G>A (p.Glu45Lys)8867SYNJ1Uncertain significance-1RCV001054657; NMONDO:MONDO:0033362,MedGen:C4479313,OMIM:617389; MONDO:MONDO:0014233,MedGen:C3809824,OMIM:615530, Orphanet:391411213407434934074349CT21:g.34074349C>T-
NM_003895.3(SYNJ1):c.210C>G (p.Leu70=)8867SYNJ1Likely benignrs201322530RCV000655780; NMONDO:MONDO:0033362,MedGen:C4479313,OMIM:617389; MONDO:MONDO:0014233,MedGen:C3809824,OMIM:615530, Orphanet:391411213409911434099114GC21:g.34099114G>CClinGen:CA10004216
NM_203446.3(SYNJ1):c.83A>C (p.Glu28Ala)8867SYNJ1Uncertain significance-1RCV001067909; NMONDO:MONDO:0033362,MedGen:C4479313,OMIM:617389; MONDO:MONDO:0014233,MedGen:C3809824,OMIM:615530, Orphanet:391411213409912434099124TG21:g.34099124T>G-
NM_203446.3(SYNJ1):c.53T>A (p.Phe18Tyr)8867SYNJ1Uncertain significance-1RCV001214172; NMONDO:MONDO:0033362,MedGen:C4479313,OMIM:617389; MONDO:MONDO:0014233,MedGen:C3809824,OMIM:615530, Orphanet:391411213409915434099154AT21:g.34099154A>T-
NM_003895.3(SYNJ1):c.160C>T (p.Pro54Ser)8867SYNJ1Benign/Likely benignrs61755328RCV000513799|RCV001086261; NMedGen:CN517202|MONDO:MONDO:0033362,MedGen:C4479313,OMIM:617389; MONDO:MONDO:0014233,MedGen:C3809824,OMIM:615530, Orphanet:391411213409916434099164GA21:g.34099164G>AClinGen:CA10004225C4479313 617389 Epileptic encephalopathy, early infantile, 53;
NM_003895.3(SYNJ1):c.158A>G (p.Asp53Gly)8867SYNJ1Uncertain significancers565807712RCV000691330; NMONDO:MONDO:0033362,MedGen:C4479313,OMIM:617389; MONDO:MONDO:0014233,MedGen:C3809824,OMIM:615530, Orphanet:391411213409916634099166TC21:g.34099166T>C-
NM_203446.3(SYNJ1):c.35A>G (p.Lys12Arg)8867SYNJ1Uncertain significance-1RCV001232604; NMONDO:MONDO:0033362,MedGen:C4479313,OMIM:617389; MONDO:MONDO:0014233,MedGen:C3809824,OMIM:615530, Orphanet:391411213409917234099172TC21:g.34099172T>C-
NM_203446.3(SYNJ1):c.33C>G (p.His11Gln)8867SYNJ1Uncertain significance-1RCV001210340; NMONDO:MONDO:0033362,MedGen:C4479313,OMIM:617389; MONDO:MONDO:0014233,MedGen:C3809824,OMIM:615530, Orphanet:391411213409917434099174GC21:g.34099174G>C-
NM_203446.3(SYNJ1):c.29A>G (p.Tyr10Cys)8867SYNJ1Uncertain significance-1RCV001051813; NMONDO:MONDO:0033362,MedGen:C4479313,OMIM:617389; MONDO:MONDO:0014233,MedGen:C3809824,OMIM:615530, Orphanet:391411213409917834099178TC21:g.34099178T>C-
NM_003895.3(SYNJ1):c.142A>G (p.Ile48Val)8867SYNJ1Uncertain significancers757895747RCV000693334; NMONDO:MONDO:0033362,MedGen:C4479313,OMIM:617389; MONDO:MONDO:0014233,MedGen:C3809824,OMIM:615530, Orphanet:391411213409918234099182TC21:g.34099182T>C-C4479313 617389 Epileptic encephalopathy, early infantile, 53;
NM_003895.3(SYNJ1):c.137T>A (p.Phe46Tyr)8867SYNJ1Uncertain significancers748690832RCV000691317|RCV001093461; NMONDO:MONDO:0033362,MedGen:C4479313,OMIM:617389; MONDO:MONDO:0014233,MedGen:C3809824,OMIM:615530, Orphanet:391411|MedGen:CN517202213409918734099187AT21:g.34099187A>T-
NM_003895.3(SYNJ1):c.123G>A (p.Ala41=)8867SYNJ1Benign/Likely benignrs61750221RCV000713724|RCV001086325; NMedGen:CN517202|MONDO:MONDO:0033362,MedGen:C4479313,OMIM:617389; MONDO:MONDO:0014233,MedGen:C3809824,OMIM:615530, Orphanet:391411213409920134099201CT21:g.34099201C>TClinGen:CA10004232
NC_000021.9:g.(?_32727926)_(32728060_?)del8867SYNJ1Pathogenic-1RCV001033697; NMONDO:MONDO:0033362,MedGen:C4479313,OMIM:617389; MONDO:MONDO:0014233,MedGen:C3809824,OMIM:615530, Orphanet:391411213410023734100371nana-1-
NM_203446.3(SYNJ1):c.-29G>A8867SYNJ1Uncertain significance-1RCV001223324; NMONDO:MONDO:0033362,MedGen:C4479313,OMIM:617389; MONDO:MONDO:0014233,MedGen:C3809824,OMIM:615530, Orphanet:391411213410026334100263CT21:g.34100263C>T-
NM_203446.3(SYNJ1):c.-31G>C8867SYNJ1Likely benignrs751083536RCV000944985; NMONDO:MONDO:0033362,MedGen:C4479313,OMIM:617389; MONDO:MONDO:0014233,MedGen:C3809824,OMIM:615530, Orphanet:391411213410026534100265CG21:g.34100265C>G-
NM_003895.3(SYNJ1):c.76A>G (p.Arg26Gly)8867SYNJ1Uncertain significancers988950141RCV000655743; NMONDO:MONDO:0033362,MedGen:C4479313,OMIM:617389; MONDO:MONDO:0014233,MedGen:C3809824,OMIM:615530, Orphanet:391411213410027634100276TC21:g.34100276T>CClinGen:CA319437508
NM_203446.3(SYNJ1):c.-47G>C8867SYNJ1Uncertain significance-1RCV001038796; NMONDO:MONDO:0033362,MedGen:C4479313,OMIM:617389; MONDO:MONDO:0014233,MedGen:C3809824,OMIM:615530, Orphanet:391411213410028134100281CG21:g.34100281C>G-
NM_203446.3(SYNJ1):c.-64_-53dup8867SYNJ1Uncertain significance-1RCV001213193; NMONDO:MONDO:0033362,MedGen:C4479313,OMIM:617389; MONDO:MONDO:0014233,MedGen:C3809824,OMIM:615530, Orphanet:391411213410028634100287CCCCGCAGCCGCCG21:g.34100286_34100287insCCGCAGCCGCCG-
NM_003895.3(SYNJ1):c.51_62del (p.15_18GGCG[1])8867SYNJ1Uncertain significancers1035093736RCV000655768; NMONDO:MONDO:0033362,MedGen:C4479313,OMIM:617389; MONDO:MONDO:0014233,MedGen:C3809824,OMIM:615530, Orphanet:391411213410029034100301GCAGCCGCCGCCAG21:g.34100290_34100301delClinGen:CA319437559C4479313 617389 Epileptic encephalopathy, early infantile, 53;
NM_203446.3(SYNJ1):c.-56G>T8867SYNJ1Uncertain significance-1RCV001235589; NMONDO:MONDO:0033362,MedGen:C4479313,OMIM:617389; MONDO:MONDO:0014233,MedGen:C3809824,OMIM:615530, Orphanet:391411213410029034100290CA21:g.34100290C>A-
NM_203446.3(SYNJ1):c.-60G>T8867SYNJ1Uncertain significance-1RCV001215745; NMONDO:MONDO:0033362,MedGen:C4479313,OMIM:617389; MONDO:MONDO:0014233,MedGen:C3809824,OMIM:615530, Orphanet:391411213410029434100294CA21:g.34100294C>A-
NM_203446.3(SYNJ1):c.-63G>A8867SYNJ1Uncertain significance-1RCV001226518; NMONDO:MONDO:0033362,MedGen:C4479313,OMIM:617389; MONDO:MONDO:0014233,MedGen:C3809824,OMIM:615530, Orphanet:391411213410029734100297CT21:g.34100297C>T-
NM_203446.3(SYNJ1):c.-68G>A8867SYNJ1Uncertain significance-1RCV001036356; NMONDO:MONDO:0033362,MedGen:C4479313,OMIM:617389; MONDO:MONDO:0014233,MedGen:C3809824,OMIM:615530, Orphanet:391411213410030234100302CT21:g.34100302C>T-
NM_203446.3(SYNJ1):c.-75G>A8867SYNJ1Uncertain significance-1RCV001231723; NMONDO:MONDO:0033362,MedGen:C4479313,OMIM:617389; MONDO:MONDO:0014233,MedGen:C3809824,OMIM:615530, Orphanet:391411213410030934100309CT21:g.34100309C>T-
NM_203446.3(SYNJ1):c.-81G>T8867SYNJ1Uncertain significance-1RCV001057464; NMONDO:MONDO:0033362,MedGen:C4479313,OMIM:617389; MONDO:MONDO:0014233,MedGen:C3809824,OMIM:615530, Orphanet:391411213410031534100315CA21:g.34100315C>A-
NM_003895.3(SYNJ1):c.32G>A (p.Ser11Asn)8867SYNJ1Uncertain significancers768854034RCV000800995; NMONDO:MONDO:0033362,MedGen:C4479313,OMIM:617389; MONDO:MONDO:0014233,MedGen:C3809824,OMIM:615530, Orphanet:391411213410032034100320CT21:g.34100320C>T-
NM_203446.3(SYNJ1):c.-89G>T8867SYNJ1Uncertain significance-1RCV001224480; NMONDO:MONDO:0033362,MedGen:C4479313,OMIM:617389; MONDO:MONDO:0014233,MedGen:C3809824,OMIM:615530, Orphanet:391411213410032334100323CA21:g.34100323C>A-
NM_003895.3(SYNJ1):c.24G>A (p.Trp8Ter)8867SYNJ1Pathogenicrs1569147057RCV000697507; NMONDO:MONDO:0033362,MedGen:C4479313,OMIM:617389; MONDO:MONDO:0014233,MedGen:C3809824,OMIM:615530, Orphanet:391411213410032834100328CT21:g.34100328C>T-C4479313 617389 Epileptic encephalopathy, early infantile, 53;
NM_003895.3(SYNJ1):c.7A>C (p.Lys3Gln)8867SYNJ1Uncertain significancers1037328706RCV000807790; NMONDO:MONDO:0033362,MedGen:C4479313,OMIM:617389; MONDO:MONDO:0014233,MedGen:C3809824,OMIM:615530, Orphanet:391411213410034534100345TG21:g.34100345T>G-
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