MSeqDR Mitochondrial Disease Portal


 
*:HP: HPO terms, UMDF: 1= Disease, ND: NAMDC terms.
  Most Studied  CPEO, Complex I Deficiency, COXPD1, Leigh, LHON, MELAS, MERRF, Myopathy, SANDO
Disease Browser
Parent Node:
expand
Spasms, Infantile (D013036)
..Starting node
..expand
Epileptic Encephalopathy, Early Infantile, 4 (C567404)

       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:4319
Name:Epileptic Encephalopathy, Early Infantile, 4
Definition:
Alternative IDs:OMIM:612164
ParentIDs:MESH:D013036
TreeNumbers:C10.228.140.490.375.760/C567404 |C10.228.140.490.493.875/C567404
Synonyms:EIEE4
Slim Mappings:Nervous system disease
Reference: MedGen: C567404
MeSH: C567404
OMIM: 612164;
MSeqDR LSDB:  
Genes: STXBP1;
Phenotypes
1 HP:0000006Autosomal dominant inheritance
2 HP:0003623Neonatal onset
3 HP:0001344Absent speech
4 HP:0002059Cerebral atrophy
5 HP:0006808Cerebral hypomyelination
6 HP:0002376Developmental regression
7 HP:0010851EEG with burst suppression
8 HP:0200134Epileptic encephalopathy
9 HP:0011097Epileptic spasms
10 HP:0001290Generalized hypotonia
11 HP:0002123Generalized myoclonic seizures
12 HP:0010818Generalized tonic seizures
13 HP:0002069Generalized tonic-clonic seizures
14 HP:0002079Hypoplasia of the corpus callosum
15 HP:0002521Hypsarrhythmia
16 HP:0001151Impaired horizontal smooth pursuit
17 HP:0007105Infantile encephalopathy
18 HP:0010864Intellectual disability, severe
19 HP:0011344Severe global developmental delay
20 HP:0001258Spastic paraplegia
21 HP:0002510Spastic tetraplegia
22 HP:0002133Status epilepticus
23 HP:0001337Tremor
24 HP:0003828Variable expressivity
Disease Causing ClinVar Variants
Variation_NameGeneIDGeneSymbolClinicalSignificancedbSNPRCVaccessionTestedInGTRPhenotypeIDsChromosomeStartStopHGVS_cHGVS_pHGVS_gOtherIDsDisease_ClinVar
NM_001323289.2(CDKL5):c.1099C>T (p.Leu367=)6792CDKL5Pathogenicrs1602286005RCV001004675; NMONDO:MONDO:0012812,MedGen:C2677326,OMIM:612164, Orphanet:1934, Orphanet:33069X1862214318622143CTX:g.18622143C>T-
GRCh37/hg19 9q34.11(chr9:130335766-130517907)-1CFAP157;NIBAN2;PTRH1;SH2D3C;STPathogenic-1RCV000767646; NMONDO:MONDO:0012812,MedGen:C2677326,OMIM:612164, Orphanet:1934, Orphanet:330699130335766130517907nana-
GRCh37/hg19 9q34.11(chr9:130435492-130485618)x1-1CFAP157;PTRH1;STXBP1;TTC16Pathogenic-1RCV001250486; NMONDO:MONDO:0012812,MedGen:C2677326,OMIM:612164, Orphanet:1934, Orphanet:330699130435492130485618nana-1-
GRCh37/hg19 9q33.3(chr9:129414011-129460757)4010LMX1BPathogenic-1RCV000767647; NMONDO:MONDO:0012812,MedGen:C2677326,OMIM:612164, Orphanet:1934, Orphanet:330699129414011129460757nana-
Single allele6812STXBP1Pathogenic-1RCV000735211; NMONDO:MONDO:0012812,MedGen:C2677326,OMIM:612164, Orphanet:1934, Orphanet:330699130248090130388197nana-C1968689 243700 Hyperimmunoglobulin E recurrent infection syndrome, autosomal recessive;
NM_001032221.6(STXBP1):c.25delinsCT (p.Val9fs)6812STXBP1Pathogenic-1RCV001568361; NMONDO:MONDO:0012812,MedGen:C2677326,OMIM:612164, Orphanet:1934, Orphanet:330699130374707130374707GCT130374707-
NM_001032221.6(STXBP1):c.37+2dup6812STXBP1Pathogenic/Likely pathogenicrs1838431452RCV001089985; NMONDO:MONDO:0012812,MedGen:C2677326,OMIM:612164, Orphanet:1934, Orphanet:330699130374720130374721GGT9:g.130374720_130374721insT-
NM_001032221.6(STXBP1):c.37+1G>C6812STXBP1Pathogenic-1RCV001775315; NMONDO:MONDO:0012812,MedGen:C2677326,OMIM:612164, Orphanet:1934, Orphanet:330699130374720130374720GC130374720-
NM_001032221.6(STXBP1):c.79G>T (p.Glu27Ter)6812STXBP1Pathogenicrs1564346538RCV000680112; NMONDO:MONDO:0012812,MedGen:C2677326,OMIM:612164, Orphanet:1934, Orphanet:330699130413923130413923GT9:g.130413923G>T-C2677326 612164 Early infantile epileptic encephalopathy 4;
NM_001032221.6(STXBP1):c.87+2T>C6812STXBP1Pathogenicrs1554775960RCV000503704; NMONDO:MONDO:0012812,MedGen:C2677326,OMIM:612164, Orphanet:1934, Orphanet:330699130413933130413933TCNC_000009.11:g.130413933T>CClinGen:CA375176160C2677326 612164 Early infantile epileptic encephalopathy 4;
NM_001032221.6(STXBP1):c.122T>A (p.Leu41Gln)6812STXBP1Likely pathogenic-1RCV001004708; NMONDO:MONDO:0012812,MedGen:C2677326,OMIM:612164, Orphanet:1934, Orphanet:330699130416028130416028TA9:g.130416028T>A-
NM_001032221.6(STXBP1):c.122T>G (p.Leu41Arg)6812STXBP1Pathogenic-1RCV001726699; NMONDO:MONDO:0012812,MedGen:C2677326,OMIM:612164, Orphanet:1934, Orphanet:330699130416028130416028TG130416028-
NM_001032221.6(STXBP1):c.125CCT[1] (p.Ser43del)6812STXBP1Uncertain significancers796053381RCV000189631|RCV000509384|RCV001262403; NMedGen:CN169374|MedGen:CN230733|MONDO:MONDO:0012812,MedGen:C2677326,OMIM:612164, Orphanet:1934, Orphanet:330699130416030130416032GTCCGNC_000009.11:g.130416031CCT[1]ClinGen:CA318905CN230733 Early onset epileptic encephalopathy;
NM_001032221.6(STXBP1):c.130TGC[1] (p.Cys45del)6812STXBP1Uncertain significance-1RCV001706827; NMONDO:MONDO:0012812,MedGen:C2677326,OMIM:612164, Orphanet:1934, Orphanet:330699130416035130416037CCTGC130416034-
NM_001032221.6(STXBP1):c.169+1G>A6812STXBP1Pathogenicrs587776641RCV000007123; NMONDO:MONDO:0012812,MedGen:C2677326,OMIM:612164, Orphanet:1934, Orphanet:330699130416076130416076GA9:g.130416076G>AClinGen:CA118458,OMIM:602926.0006C2677326 612164 Early infantile epileptic encephalopathy 4;
NM_001032221.6(STXBP1):c.170-2A>G6812STXBP1Pathogenicrs1554776674RCV000578961|RCV000680109|RCV001265147; NMedGen:CN517202|MONDO:MONDO:0012812,MedGen:C2677326,OMIM:612164, Orphanet:1934, Orphanet:33069|MONDO:MONDO:0020071,MedGen:CN206975, Orphanet:982589130420652130420652AG9:g.130420652A>GClinGen:CA375176362C2677326 612164 Early infantile epileptic encephalopathy 4;
NM_001032221.6(STXBP1):c.170T>C (p.Ile57Thr)6812STXBP1Uncertain significance-1RCV001808017; NMONDO:MONDO:0012812,MedGen:C2677326,OMIM:612164, Orphanet:1934, Orphanet:330699130420654130420654TC130420654-
NM_001032221.6(STXBP1):c.236C>T (p.Pro79Leu)6812STXBP1Likely pathogenicrs1588302912RCV000988248; NMONDO:MONDO:0012812,MedGen:C2677326,OMIM:612164, Orphanet:1934, Orphanet:330699130420720130420720CT9:g.130420720C>T-
NM_001032221.6(STXBP1):c.241G>T (p.Glu81Ter)6812STXBP1Pathogenicrs1461664423RCV000988249; NMONDO:MONDO:0012812,MedGen:C2677326,OMIM:612164, Orphanet:1934, Orphanet:330699130420725130420725GT9:g.130420725G>T-
NM_001032221.6(STXBP1):c.246+1G>C6812STXBP1Likely pathogenicrs1840868164RCV001250744; NMONDO:MONDO:0012812,MedGen:C2677326,OMIM:612164, Orphanet:1934, Orphanet:330699130420731130420731GC9:g.130420731G>C-
NM_001032221.6(STXBP1):c.246+2_325+14del6812STXBP1Pathogenic-1RCV001027447; NMONDO:MONDO:0012812,MedGen:C2677326,OMIM:612164, Orphanet:1934, Orphanet:330699130420732130422401GTAAACCTTCCACCAGAGGAGGACTCTGGCTAAGGTTAGATGGACTGGCTTGGGATTTATGTGGCACAGACTGTCTGACATTGCTAGGTTAAGCACGCATTTAACACACTG9:g.130420732_130420830del-
NM_001032221.6(STXBP1):c.247-8A>G6812STXBP1Benign/Likely benignrs199827018RCV000147703|RCV000233301|RCV000609695|RCV001705923; NMedGen:CN169374|MONDO:MONDO:0100062,MedGen:C0393706,OMIM:PS308350, Orphanet:1934|MONDO:MONDO:0012812,MedGen:C2677326,OMIM:612164, Orphanet:1934, Orphanet:33069|MedGen:CN5172029130422301130422301AG9:g.130422301A>GClinGen:CA295201C0393706 Early infantile epileptic encephalopathy;
NM_001032221.6(STXBP1):c.251T>A (p.Val84Asp)6812STXBP1Pathogenicrs121918320RCV000007121; NMONDO:MONDO:0012812,MedGen:C2677326,OMIM:612164, Orphanet:1934, Orphanet:330699130422313130422313TA9:g.130422313T>AClinGen:CA118454,UniProtKB:P61764#VAR_046205,OMIM:602926.0004C2677326 612164 Early infantile epileptic encephalopathy 4;
NM_001032221.6(STXBP1):c.260_261dup (p.Ile88fs)6812STXBP1Pathogenic-1RCV000486113|RCV001004751|RCV001265294; NMedGen:CN517202|MONDO:MONDO:0012812,MedGen:C2677326,OMIM:612164, Orphanet:1934, Orphanet:33069|MONDO:MONDO:0020071,MedGen:CN206975, Orphanet:982589130422316130422317AACT9:g.130422316_130422317insCTClinGen:CA16618737CN517202 not provided;
NM_001032221.6(STXBP1):c.260_261del (p.Leu87fs)6812STXBP1Pathogenic-1RCV001008326|RCV001784551; NMedGen:CN517202|MONDO:MONDO:0012812,MedGen:C2677326,OMIM:612164, Orphanet:1934, Orphanet:330699130422317130422318ACTA9:g.130422317_130422318del-
NM_001032221.6(STXBP1):c.268G>C (p.Asp90His)6812STXBP1Pathogenicrs1840970680RCV001214862|RCV001726451; NMONDO:MONDO:0100062,MedGen:C0393706,OMIM:PS308350, Orphanet:1934|MONDO:MONDO:0012812,MedGen:C2677326,OMIM:612164, Orphanet:1934, Orphanet:330699130422330130422330GC9:g.130422330G>C-
NM_001032221.6(STXBP1):c.303_305del (p.Ala102del)6812STXBP1Likely pathogenicrs1588306876RCV000988250; NMONDO:MONDO:0012812,MedGen:C2677326,OMIM:612164, Orphanet:1934, Orphanet:330699130422363130422365GGCTG9:g.130422363_130422365del-
NM_001032221.6(STXBP1):c.305C>T (p.Ala102Val)6812STXBP1Uncertain significancers1840974440RCV001253047; NMONDO:MONDO:0012812,MedGen:C2677326,OMIM:612164, Orphanet:1934, Orphanet:330699130422367130422367CT9:g.130422367C>T-
NM_001032221.6(STXBP1):c.308A>C (p.His103Pro)6812STXBP1Likely pathogenicrs1588306948RCV000995655; NMONDO:MONDO:0012812,MedGen:C2677326,OMIM:612164, Orphanet:1934, Orphanet:330699130422370130422370AC9:g.130422370A>C-
NM_001032221.6(STXBP1):c.325+2_325+3del6812STXBP1Likely pathogenicrs1554776853RCV000590900; NMONDO:MONDO:0012812,MedGen:C2677326,OMIM:612164, Orphanet:1934, Orphanet:330699130422389130422390CTGCNC_000009.11:g.130422387TG[1]ClinGen:CA658683551
NM_001032221.6(STXBP1):c.325+8C>T6812STXBP1Benign/Likely benignrs117372398RCV000080079|RCV000613435|RCV000713556|RCV001079732; NMedGen:CN169374|MONDO:MONDO:0012812,MedGen:C2677326,OMIM:612164, Orphanet:1934, Orphanet:33069|MedGen:CN517202|MONDO:MONDO:0100062,MedGen:C0393706,OMIM:PS308350, Orphanet:19349130422395130422395CT9:g.130422395C>TClinGen:CA285515C0393706 Early infantile epileptic encephalopathy;
NM_001032221.6(STXBP1):c.326-1G>T6812STXBP1Pathogenic/Likely pathogenicrs1554776948RCV000543201|RCV001030035; NMONDO:MONDO:0100062,MedGen:C0393706,OMIM:PS308350, Orphanet:1934|MONDO:MONDO:0012812,MedGen:C2677326,OMIM:612164, Orphanet:1934, Orphanet:330699130423380130423380GTNC_000009.11:g.130423380G>TClinGen:CA374932136C0393706 Early infantile epileptic encephalopathy;
NM_001032221.6(STXBP1):c.364C>T (p.Arg122Ter)6812STXBP1Pathogenicrs794727792RCV000179420|RCV000189595|RCV000626842|RCV001265297|RCV001260782|RCV001380262; NMONDO:MONDO:0012812,MedGen:C2677326,OMIM:612164, Orphanet:1934, Orphanet:33069|MedGen:CN517202|7 conditions|MONDO:MONDO:0020071,MedGen:CN206975, Orphanet:98258|Human Phenotype Ontology:HP:0000730,Human Phenotype Ontology:HP:0001249,Human Phenotype Ontology9130423419130423419CT9:g.130423419C>TClinGen:CA203284C0454644 Delayed speech and language development;
NM_001032221.6(STXBP1):c.374_375del (p.Lys125fs)6812STXBP1Pathogenicrs1841026473RCV001253243; NMONDO:MONDO:0012812,MedGen:C2677326,OMIM:612164, Orphanet:1934, Orphanet:330699130423428130423429CAAC9:g.130423428_130423429del-
NM_001032221.6(STXBP1):c.416C>T (p.Pro139Leu)6812STXBP1Pathogenic/Likely pathogenicrs796053353RCV000189597|RCV000416131|RCV000851509|RCV001061798|RCV001260844; NMedGen:CN517202|MONDO:MONDO:0012812,MedGen:C2677326,OMIM:612164, Orphanet:1934, Orphanet:33069|Human Phenotype Ontology:HP:0001250,Human Phenotype Ontology:HP:0001275,Human Phenotype Ontology:HP:0001303,Human Phenotype Ontology:HP:0002125,Human Phenotype 9130423471130423471CTNC_000009.11:g.130423471C>TClinGen:CA318847C2677326 612164 Early infantile epileptic encephalopathy 4;
NM_001032221.6(STXBP1):c.423A>T (p.Glu141Asp)6812STXBP1Uncertain significancers1588309392RCV000988251; NMONDO:MONDO:0012812,MedGen:C2677326,OMIM:612164, Orphanet:1934, Orphanet:330699130423478130423478AT9:g.130423478A>T-
NM_001032221.6(STXBP1):c.430-1G>A6812STXBP1Pathogenicrs796053354RCV000988252; NMONDO:MONDO:0012812,MedGen:C2677326,OMIM:612164, Orphanet:1934, Orphanet:330699130425483130425483GA9:g.130425483G>A-
NM_001032221.6(STXBP1):c.430G>T (p.Val144Phe)6812STXBP1Conflicting interpretations of pathogenicityrs1211863124RCV001089743|RCV001171879; NMONDO:MONDO:0012812,MedGen:C2677326,OMIM:612164, Orphanet:1934, Orphanet:33069|MedGen:CN5172029130425484130425484GT9:g.130425484G>T-
NM_001032221.6(STXBP1):c.433T>C (p.Tyr145His)6812STXBP1Likely pathogenicrs587784455RCV000147709; NMONDO:MONDO:0012812,MedGen:C2677326,OMIM:612164, Orphanet:1934, Orphanet:330699130425487130425487TC9:g.130425487T>CClinGen:CA173642C2677326 612164 Early infantile epileptic encephalopathy 4;
NM_001032221.6(STXBP1):c.497A>G (p.Asn166Ser)6812STXBP1Uncertain significancers1841136116RCV001253524|RCV001879871; NMONDO:MONDO:0012812,MedGen:C2677326,OMIM:612164, Orphanet:1934, Orphanet:33069|MONDO:MONDO:0100062,MedGen:C0393706,OMIM:PS308350, Orphanet:19349130425551130425551AG9:g.130425551A>G-
NM_001032221.6(STXBP1):c.533C>T (p.Thr178Ile)6812STXBP1Uncertain significancers1564350546RCV000680110; NMONDO:MONDO:0012812,MedGen:C2677326,OMIM:612164, Orphanet:1934, Orphanet:330699130425587130425587CT9:g.130425587C>T-C2677326 612164 Early infantile epileptic encephalopathy 4;
NM_001032221.6(STXBP1):c.539G>A (p.Cys180Tyr)6812STXBP1Pathogenicrs121918318RCV000007119|RCV000715110; NMONDO:MONDO:0012812,MedGen:C2677326,OMIM:612164, Orphanet:1934, Orphanet:33069|MedGen:C27117549130425593130425593GA9:g.130425593G>AUniProtKB:P61764#VAR_046206,OMIM:602926.0002,ClinGen:CA118450C2677326 612164 Early infantile epileptic encephalopathy 4;
NM_001032221.6(STXBP1):c.560C>T (p.Pro187Leu)6812STXBP1Conflicting interpretations of pathogenicityrs1841141204RCV001291380|RCV002051934|RCV001863164; NMONDO:MONDO:0005258,MeSH:D000067877,MedGen:C1510586, Orphanet:106|MONDO:MONDO:0012812,MedGen:C2677326,OMIM:612164, Orphanet:1934, Orphanet:33069|MONDO:MONDO:0100062,MedGen:C0393706,OMIM:PS308350, Orphanet:19349130425614130425614CT130425614-
NM_001032221.6(STXBP1):c.568C>T (p.Arg190Trp)6812STXBP1Pathogenic-1RCV000189599|RCV000415749|RCV000548823|RCV001265515; NMedGen:CN517202|MONDO:MONDO:0012812,MedGen:C2677326,OMIM:612164, Orphanet:1934, Orphanet:33069|MONDO:MONDO:0100062,MedGen:C0393706,OMIM:PS308350, Orphanet:1934|MONDO:MONDO:0020071,MedGen:CN206975, Orphanet:982589130425622130425622CT9:g.130425622C>TClinGen:CA318850C0393706 Early infantile epileptic encephalopathy;
NM_001032221.6(STXBP1):c.576G>A (p.Arg192=)6812STXBP1Uncertain significance-1RCV001837246; NMONDO:MONDO:0012812,MedGen:C2677326,OMIM:612164, Orphanet:1934, Orphanet:330699130425630130425630GA130425630-
NM_001032221.6(STXBP1):c.578+1G>A6812STXBP1Pathogenicrs796053357RCV000680111; NMONDO:MONDO:0012812,MedGen:C2677326,OMIM:612164, Orphanet:1934, Orphanet:330699130425633130425633GA9:g.130425633G>A-C2677326 612164 Early infantile epileptic encephalopathy 4;
NM_001032221.6(STXBP1):c.579-1G>A6812STXBP1Pathogenicrs1588317190RCV000988253; NMONDO:MONDO:0012812,MedGen:C2677326,OMIM:612164, Orphanet:1934, Orphanet:330699130427525130427525GA9:g.130427525G>A-
NM_001032221.6(STXBP1):c.624del (p.Lys208fs)6812STXBP1Likely pathogenicrs1841237663RCV001250745; NMONDO:MONDO:0012812,MedGen:C2677326,OMIM:612164, Orphanet:1934, Orphanet:330699130427571130427571AGA9:g.130427571_130427571del-
NM_001032221.6(STXBP1):c.663+1G>A6812STXBP1Pathogenicrs1841240415RCV001249710|RCV001879760; NMONDO:MONDO:0012812,MedGen:C2677326,OMIM:612164, Orphanet:1934, Orphanet:33069|MONDO:MONDO:0100062,MedGen:C0393706,OMIM:PS308350, Orphanet:19349130427611130427611GA9:g.130427611G>A-
NM_001032221.6(STXBP1):c.663+1G>C6812STXBP1Pathogenicrs1841240415RCV001265151|RCV001775165; NMONDO:MONDO:0020071,MedGen:CN206975, Orphanet:98258|MONDO:MONDO:0012812,MedGen:C2677326,OMIM:612164, Orphanet:1934, Orphanet:330699130427611130427611GC9:g.130427611G>C-
NM_003165.6(STXBP1):c.664-1delG6812STXBP1Pathogenic-1RCV001726701; NMONDO:MONDO:0012812,MedGen:C2677326,OMIM:612164, Orphanet:1934, Orphanet:330699130428444130428444AGA130428443-
NM_001032221.6(STXBP1):c.692dup (p.Ile232fs)6812STXBP1Pathogenicrs1564351388RCV000678382; NMONDO:MONDO:0012812,MedGen:C2677326,OMIM:612164, Orphanet:1934, Orphanet:330699130428472130428473CCT9:g.130428472_130428473insT-C2677326 612164 Early infantile epileptic encephalopathy 4;
NM_001032221.6(STXBP1):c.703C>T (p.Arg235Ter)6812STXBP1Pathogenicrs796053359RCV000189604|RCV000415997|RCV000819097|RCV001265520; NMedGen:CN517202|MONDO:MONDO:0012812,MedGen:C2677326,OMIM:612164, Orphanet:1934, Orphanet:33069|MONDO:MONDO:0100062,MedGen:C0393706,OMIM:PS308350, Orphanet:1934|MONDO:MONDO:0020071,MedGen:CN206975, Orphanet:982589130428484130428484CTNC_000009.11:g.130428484C>TClinGen:CA318859C2677326 612164 Early infantile epileptic encephalopathy 4;
NM_001032221.6(STXBP1):c.704G>A (p.Arg235Gln)6812STXBP1Pathogenicrs794727970RCV000180590|RCV000504117|RCV000796167|RCV000779652|RCV001258012|RCV001265518; NMedGen:CN517202|MONDO:MONDO:0012812,MedGen:C2677326,OMIM:612164, Orphanet:1934, Orphanet:33069|MONDO:MONDO:0100062,MedGen:C0393706,OMIM:PS308350, Orphanet:1934|MONDO:MONDO:0012812,MedGen:C2677326,OMIM:612164, Orphanet:1934, Orphanet:33069; Human Phenotype Ont9130428485130428485GANC_000009.11:g.130428485G>AClinGen:CA303075C2677326 612164 Early infantile epileptic encephalopathy 4;
NM_001032221.6(STXBP1):c.714C>A (p.Asp238Glu)6812STXBP1Uncertain significancers587784456RCV000147710; NMONDO:MONDO:0012812,MedGen:C2677326,OMIM:612164, Orphanet:1934, Orphanet:330699130428495130428495CA9:g.130428495C>AClinGen:CA173644C2677326 612164 Early infantile epileptic encephalopathy 4;
NM_001032221.6(STXBP1):c.733C>A (p.His245Asn)6812STXBP1Pathogenic-1RCV001726703; NMONDO:MONDO:0012812,MedGen:C2677326,OMIM:612164, Orphanet:1934, Orphanet:330699130428514130428514CA130428514-
NM_001032221.6(STXBP1):c.734A>G (p.His245Arg)6812STXBP1Conflicting interpretations of pathogenicityrs587784453RCV000147705|RCV000502234|RCV000636306|RCV001265418; NMONDO:MONDO:0012812,MedGen:C2677326,OMIM:612164, Orphanet:1934, Orphanet:33069|MedGen:CN169374|MONDO:MONDO:0100062,MedGen:C0393706,OMIM:PS308350, Orphanet:1934|MONDO:MONDO:0020071,MedGen:CN206975, Orphanet:982589130428515130428515AG9:g.130428515A>GClinGen:CA173637C0393706 Early infantile epileptic encephalopathy;
NM_001032221.6(STXBP1):c.754_755del (p.Met252fs)6812STXBP1Pathogenicrs587784454RCV000147706|RCV001850006; NMONDO:MONDO:0012812,MedGen:C2677326,OMIM:612164, Orphanet:1934, Orphanet:33069|MONDO:MONDO:0100062,MedGen:C0393706,OMIM:PS308350, Orphanet:19349130428534130428535CTAC9:g.130428534_130428535delClinGen:CA173640C2677326 612164 Early infantile epileptic encephalopathy 4;
NM_001032221.6(STXBP1):c.784G>T (p.Asp262Tyr)6812STXBP1Likely pathogenicrs1841290957RCV001089745; NMONDO:MONDO:0012812,MedGen:C2677326,OMIM:612164, Orphanet:1934, Orphanet:330699130428565130428565GT9:g.130428565G>T-
NM_001032221.6(STXBP1):c.785A>T (p.Asp262Val)6812STXBP1Likely pathogenic-1RCV001376171; NMONDO:MONDO:0012812,MedGen:C2677326,OMIM:612164, Orphanet:1934, Orphanet:330699130428566130428566AT130428566-
NM_001032221.6(STXBP1):c.791A>G (p.Tyr264Cys)6812STXBP1Conflicting interpretations of pathogenicityrs1316686443RCV000585735|RCV001260852; NMONDO:MONDO:0012812,MedGen:C2677326,OMIM:612164, Orphanet:1934, Orphanet:33069|Human Phenotype Ontology:HP:0000730,Human Phenotype Ontology:HP:0001249,Human Phenotype Ontology:HP:0001267,Human Phenotype Ontology:HP:0001286,Human Phenotype Ontology:HP:00029130428572130428572AGNC_000009.11:g.130428572A>GClinGen:CA374934263C2677326 612164 Early infantile epileptic encephalopathy 4;
NM_001032221.6(STXBP1):c.847G>A (p.Glu283Lys)6812STXBP1Pathogenicrs587777310RCV000114939|RCV000440506|RCV000525775; NMONDO:MONDO:0012812,MedGen:C2677326,OMIM:612164, Orphanet:1934, Orphanet:33069|MedGen:CN517202|MONDO:MONDO:0100062,MedGen:C0393706,OMIM:PS308350, Orphanet:19349130430411130430411GA9:g.130430411G>AClinGen:CA151362,UniProtKB:P61764#VAR_071814,OMIM:602926.0008C0393706 Early infantile epileptic encephalopathy;
NM_001032221.6(STXBP1):c.860T>C (p.Leu287Pro)6812STXBP1Likely pathogenic-1RCV001724738; NMONDO:MONDO:0012812,MedGen:C2677326,OMIM:612164, Orphanet:1934, Orphanet:330699130430424130430424TC130430424-
NM_001032221.6(STXBP1):c.862T>C (p.Trp288Arg)6812STXBP1Likely pathogenicrs1588324025RCV000988254|RCV001255351; NMONDO:MONDO:0012812,MedGen:C2677326,OMIM:612164, Orphanet:1934, Orphanet:33069|Human Phenotype Ontology:HP:0000730,Human Phenotype Ontology:HP:0001249,Human Phenotype Ontology:HP:0001267,Human Phenotype Ontology:HP:0001286,Human Phenotype Ontology:HP:00029130430426130430426TC9:g.130430426T>C-
NM_001032221.6(STXBP1):c.874C>T (p.Arg292Cys)6812STXBP1Conflicting interpretations of pathogenicityrs786205598RCV000171427|RCV000502114|RCV000509312|RCV000515202|RCV000700520|RCV001265420|RCV001266353|RCV001640264; NMedGen:CN517202|MedGen:CN169374|MedGen:CN230733|MONDO:MONDO:0012812,MedGen:C2677326,OMIM:612164, Orphanet:1934, Orphanet:33069|MONDO:MONDO:0100062,MedGen:C0393706,OMIM:PS308350, Orphanet:1934|MONDO:MONDO:0020071,MedGen:CN206975, Orphanet:98258|MeSH:D030342,9130430438130430438CT9:g.130430438C>TClinGen:CA302345C0393706 Early infantile epileptic encephalopathy;
NM_001032221.6(STXBP1):c.875G>A (p.Arg292His)6812STXBP1Pathogenic/Likely pathogenicrs796053361RCV000189606|RCV000416099|RCV000623542|RCV000636416|RCV001265522; NMedGen:CN517202|MONDO:MONDO:0012812,MedGen:C2677326,OMIM:612164, Orphanet:1934, Orphanet:33069|MeSH:D030342,MedGen:C0950123|MONDO:MONDO:0100062,MedGen:C0393706,OMIM:PS308350, Orphanet:1934|MONDO:MONDO:0020071,MedGen:CN206975, Orphanet:982589130430439130430439GA9:g.130430439G>AClinGen:CA318862C0393706 Early infantile epileptic encephalopathy;
NM_001032221.6(STXBP1):c.898del (p.Ser300fs)6812STXBP1Pathogenic-1RCV001837057; NMONDO:MONDO:0012812,MedGen:C2677326,OMIM:612164, Orphanet:1934, Orphanet:330699130430462130430462GTG130430461-
NM_001032221.6(STXBP1):c.902+1G>A6812STXBP1Pathogenicrs886041978RCV000415793; NMONDO:MONDO:0012812,MedGen:C2677326,OMIM:612164, Orphanet:1934, Orphanet:330699130430467130430467GA9:g.130430467G>AClinGen:CA16044009C2677326 612164 Early infantile epileptic encephalopathy 4;
NM_001032221.6(STXBP1):c.902+10C>T6812STXBP1Likely benignrs760108945RCV000601965|RCV001451595|RCV001702819; NMONDO:MONDO:0012812,MedGen:C2677326,OMIM:612164, Orphanet:1934, Orphanet:33069|MONDO:MONDO:0100062,MedGen:C0393706,OMIM:PS308350, Orphanet:1934|MedGen:CN5172029130430476130430476CT9:g.130430476C>TClinGen:CA5248406C2677326 612164 Early infantile epileptic encephalopathy 4;
NM_001032221.6(STXBP1):c.993del (p.Lys332fs)6812STXBP1Likely pathogenic-1RCV001730121; NMONDO:MONDO:0012812,MedGen:C2677326,OMIM:612164, Orphanet:1934, Orphanet:330699130434359130434359TGT130434358-
NM_001032221.6(STXBP1):c.1004C>T (p.Pro335Leu)6812STXBP1Conflicting interpretations of pathogenicityrs398123695RCV000080077|RCV000779645|RCV001258011|RCV001795096; NMedGen:CN517202|MONDO:MONDO:0018097,MedGen:C0037769, Orphanet:3451; Human Phenotype Ontology:HP:0001320,MedGen:C1840379; MONDO:MONDO:0012812,MedGen:C2677326,OMIM:612164, Orphanet:1934, Orphanet:33069|MONDO:MONDO:0008939,MedGen:C5231391,OMIM:213000, Orphanet:19130434370130434370CT9:g.130434370C>TClinGen:CA221967CN169374 not specified;
NM_001032221.6(STXBP1):c.1006C>T (p.Gln336Ter)6812STXBP1Pathogenicrs1057519501RCV000416539|RCV001861468; NMONDO:MONDO:0012812,MedGen:C2677326,OMIM:612164, Orphanet:1934, Orphanet:33069|MONDO:MONDO:0100062,MedGen:C0393706,OMIM:PS308350, Orphanet:19349130434372130434372CT9:g.130434372C>TClinGen:CA16044277C2677326 612164 Early infantile epileptic encephalopathy 4;
NM_001032221.6(STXBP1):c.1029+1G>T6812STXBP1Pathogenicrs727504173RCV000595386|RCV001726006; NMedGen:CN517202|MONDO:MONDO:0012812,MedGen:C2677326,OMIM:612164, Orphanet:1934, Orphanet:330699130434396130434396GT9:g.130434396G>TClinGen:CA234988C2677326 612164 Early infantile epileptic encephalopathy 4;
NM_001032221.6(STXBP1):c.1029+1G>C6812STXBP1Pathogenicrs727504173RCV000193347; NMONDO:MONDO:0012812,MedGen:C2677326,OMIM:612164, Orphanet:1934, Orphanet:330699130434396130434396GCNC_000009.11:g.130434396G>CClinGen:CA206776C2677326 612164 Early infantile epileptic encephalopathy 4;
NM_001032221.6(STXBP1):c.1029+1G>A6812STXBP1Pathogenicrs727504173RCV001090609|RCV001253063; NMedGen:CN517202|MONDO:MONDO:0012812,MedGen:C2677326,OMIM:612164, Orphanet:1934, Orphanet:330699130434396130434396GA9:g.130434396G>A-
NM_001032221.6(STXBP1):c.1030del (p.Tyr344fs)6812STXBP1Pathogenicrs1841611480RCV001031000; NMONDO:MONDO:0012812,MedGen:C2677326,OMIM:612164, Orphanet:1934, Orphanet:330699130435460130435460GTG9:g.130435460_130435460del-
NM_001032221.6(STXBP1):c.1043T>C (p.Leu348Pro)6812STXBP1Likely pathogenic-1RCV001839311; NMONDO:MONDO:0012812,MedGen:C2677326,OMIM:612164, Orphanet:1934, Orphanet:330699130435473130435473TC130435473-
NM_001032221.6(STXBP1):c.1099C>T (p.Arg367Ter)6812STXBP1Pathogenicrs796053366RCV000189611|RCV000416987|RCV000477371|RCV001336021|RCV001260836|RCV001265514|RCV001807119; NMedGen:CN517202|Human Phenotype Ontology:HP:0200134,MedGen:C0543888|MONDO:MONDO:0100062,MedGen:C0393706,OMIM:PS308350, Orphanet:1934|MONDO:MONDO:0012812,MedGen:C2677326,OMIM:612164, Orphanet:1934, Orphanet:33069|Human Phenotype Ontology:HP:0000730,Human Ph9130435529130435529CT9:g.130435529C>TClinGen:CA318871C0393706 Early infantile epileptic encephalopathy;
NM_001032221.6(STXBP1):c.1110+3A>C6812STXBP1Likely pathogenic-1RCV001420160; NMONDO:MONDO:0012812,MedGen:C2677326,OMIM:612164, Orphanet:1934, Orphanet:330699130435543130435543AC130435543-
NM_001032221.6(STXBP1):c.1111-2A>G6812STXBP1Likely pathogenicrs1554778417RCV000527133|RCV000721132; NMONDO:MONDO:0100062,MedGen:C0393706,OMIM:PS308350, Orphanet:1934|MONDO:MONDO:0012812,MedGen:C2677326,OMIM:612164, Orphanet:1934, Orphanet:330699130438081130438081AGNC_000009.11:g.130438081A>GClinGen:CA374936675C0393706 Early infantile epileptic encephalopathy;
NM_001032221.6(STXBP1):c.1162C>T (p.Arg388Ter)6812STXBP1Pathogenicrs121918321RCV000007122|RCV000189612|RCV000539734|RCV001266381|RCV001265424; NMONDO:MONDO:0012812,MedGen:C2677326,OMIM:612164, Orphanet:1934, Orphanet:33069|MedGen:CN517202|MONDO:MONDO:0100062,MedGen:C0393706,OMIM:PS308350, Orphanet:1934|MeSH:D030342,MedGen:C0950123|MONDO:MONDO:0020071,MedGen:CN206975, Orphanet:982589130438134130438134CT9:g.130438134C>TClinGen:CA118456,OMIM:602926.0005C0393706 Early infantile epileptic encephalopathy;
NM_001032221.6(STXBP1):c.1216C>T (p.Arg406Cys)6812STXBP1Pathogenicrs796053367RCV000189614|RCV000417024|RCV000636419|RCV001265293|RCV001332690; NMedGen:CN517202|Human Phenotype Ontology:HP:0200134,MedGen:C0543888|MONDO:MONDO:0100062,MedGen:C0393706,OMIM:PS308350, Orphanet:1934|MONDO:MONDO:0020071,MedGen:CN206975, Orphanet:98258|MONDO:MONDO:0012812,MedGen:C2677326,OMIM:612164, Orphanet:1934, Orphanet9130438188130438188CT9:g.130438188C>TClinGen:CA318875C0393706 Early infantile epileptic encephalopathy;
NM_001032221.6(STXBP1):c.1217G>A (p.Arg406His)6812STXBP1Pathogenic/Likely pathogenicrs886041246RCV000369586|RCV000458588|RCV000416146|RCV000622955|RCV001265512; NMedGen:CN517202|MONDO:MONDO:0100062,MedGen:C0393706,OMIM:PS308350, Orphanet:1934|MONDO:MONDO:0012812,MedGen:C2677326,OMIM:612164, Orphanet:1934, Orphanet:33069|MeSH:D030342,MedGen:C0950123|MONDO:MONDO:0020071,MedGen:CN206975, Orphanet:982589130438189130438189GA9:g.130438189G>AClinGen:CA10603018,UniProtKB:P61764#VAR_073151C0393706 Early infantile epileptic encephalopathy;
NM_001032221.6(STXBP1):c.1217G>T (p.Arg406Leu)6812STXBP1Pathogenic/Likely pathogenicrs886041246RCV000478807|RCV001089744; NMedGen:CN517202|MONDO:MONDO:0012812,MedGen:C2677326,OMIM:612164, Orphanet:1934, Orphanet:330699130438189130438189GT9:g.130438189G>TClinGen:CA16618744CN517202 not provided;
NM_001032221.6(STXBP1):c.1227_1229del (p.Leu410del)6812STXBP1Pathogenic-1RCV001726700; NMONDO:MONDO:0012812,MedGen:C2677326,OMIM:612164, Orphanet:1934, Orphanet:330699130438197130438199CCTTC130438196-
NM_001032221.6(STXBP1):c.1236del (p.Phe413_Leu414insTer)6812STXBP1Pathogenicrs1588339898RCV000988255; NMONDO:MONDO:0012812,MedGen:C2677326,OMIM:612164, Orphanet:1934, Orphanet:330699130438208130438208TCT9:g.130438208_130438208del-
NM_001032221.6(STXBP1):c.1249G>C (p.Gly417Arg)6812STXBP1Pathogenic-1RCV001726526; NMONDO:MONDO:0012812,MedGen:C2677326,OMIM:612164, Orphanet:1934, Orphanet:330699130438221130438221GC130438221-
NM_001032221.6(STXBP1):c.1261G>T (p.Glu421Ter)6812STXBP1Pathogenicrs1588341629RCV000995656; NMONDO:MONDO:0012812,MedGen:C2677326,OMIM:612164, Orphanet:1934, Orphanet:330699130438934130438934GT9:g.130438934G>T-
NM_001032221.6(STXBP1):c.1277T>G (p.Leu426Arg)6812STXBP1Likely pathogenicrs886039435RCV001253476|RCV001255367; NMONDO:MONDO:0012812,MedGen:C2677326,OMIM:612164, Orphanet:1934, Orphanet:33069|Human Phenotype Ontology:HP:0000730,Human Phenotype Ontology:HP:0001249,Human Phenotype Ontology:HP:0001267,Human Phenotype Ontology:HP:0001286,Human Phenotype Ontology:HP:00029130438950130438950TG9:g.130438950T>G-
NM_001032221.6(STXBP1):c.1282C>T (p.Gln428Ter)6812STXBP1Likely pathogenic-1RCV001542586; NMONDO:MONDO:0012812,MedGen:C2677326,OMIM:612164, Orphanet:1934, Orphanet:330699130438955130438955CT130438955-
NM_001032221.6(STXBP1):c.1295T>A (p.Ile432Lys)6812STXBP1Uncertain significancers1841768122RCV001261919; NMONDO:MONDO:0012812,MedGen:C2677326,OMIM:612164, Orphanet:1934, Orphanet:330699130438968130438968TA9:g.130438968T>A-
NM_001032221.6(STXBP1):c.1328T>G (p.Met443Arg)6812STXBP1Pathogenicrs121918319RCV000007120; NMONDO:MONDO:0012812,MedGen:C2677326,OMIM:612164, Orphanet:1934, Orphanet:330699130439001130439001TG9:g.130439001T>GClinGen:CA118452,UniProtKB:P61764#VAR_046207,OMIM:602926.0003C2677326 612164 Early infantile epileptic encephalopathy 4;
NM_001032221.6(STXBP1):c.1359+1G>A6812STXBP1Pathogenicrs796053370RCV000189618|RCV001204641|RCV001781559; NMedGen:CN517202|MONDO:MONDO:0100062,MedGen:C0393706,OMIM:PS308350, Orphanet:1934|MONDO:MONDO:0012812,MedGen:C2677326,OMIM:612164, Orphanet:1934, Orphanet:330699130439033130439033GA9:g.130439033G>AClinGen:CA318883CN517202 not provided;
NM_001032221.6(STXBP1):c.1359+5G>A6812STXBP1Uncertain significance-1RCV001533418|RCV001873783; NMONDO:MONDO:0012812,MedGen:C2677326,OMIM:612164, Orphanet:1934, Orphanet:33069|MONDO:MONDO:0100062,MedGen:C0393706,OMIM:PS308350, Orphanet:19349130439037130439037GA130439037-
NM_001032221.6(STXBP1):c.1360-7C>T6812STXBP1Uncertain significancers895077278RCV001253041; NMONDO:MONDO:0012812,MedGen:C2677326,OMIM:612164, Orphanet:1934, Orphanet:330699130440703130440703CT9:g.130440703C>T-
NM_001032221.6(STXBP1):c.1364C>T (p.Thr455Met)6812STXBP1Uncertain significancers762251880RCV000694421|RCV001420560; NMONDO:MONDO:0100062,MedGen:C0393706,OMIM:PS308350, Orphanet:1934|MONDO:MONDO:0012812,MedGen:C2677326,OMIM:612164, Orphanet:1934, Orphanet:330699130440714130440714CTNC_000009.11:g.130440714C>T-C0393706 Early infantile epileptic encephalopathy;
NM_001032221.6(STXBP1):c.1381_1390dup (p.Arg464fs)6812STXBP1Pathogenicrs1554778657RCV001249692|RCV001265422; NMONDO:MONDO:0012812,MedGen:C2677326,OMIM:612164, Orphanet:1934, Orphanet:33069|MONDO:MONDO:0020071,MedGen:CN206975, Orphanet:982589130440722130440723CCGCCGGAGCAA9:g.130440722_130440723insGCCGGAGCAA-
NM_001032221.6(STXBP1):c.1381_1390del (p.Lys461fs)6812STXBP1Pathogenicrs1554778657RCV000519905|RCV001253253|RCV001053882; NMedGen:CN517202|MONDO:MONDO:0012812,MedGen:C2677326,OMIM:612164, Orphanet:1934, Orphanet:33069|MONDO:MONDO:0100062,MedGen:C0393706,OMIM:PS308350, Orphanet:19349130440723130440732CGCCGGAGCAACNC_000009.11:g.130440731_130440740delClinGen:CA658657901CN517202 not provided;
NM_001032221.6(STXBP1):c.1427C>G (p.Ser476Ter)6812STXBP1Pathogenicrs1564355614RCV000760854|RCV001249693; NMedGen:CN517202|MONDO:MONDO:0012812,MedGen:C2677326,OMIM:612164, Orphanet:1934, Orphanet:330699130440777130440777CGNC_000009.11:g.130440777C>G-
NM_001032221.6(STXBP1):c.1427C>A (p.Ser476Ter)6812STXBP1Pathogenicrs1564355614RCV001003469; NMONDO:MONDO:0012812,MedGen:C2677326,OMIM:612164, Orphanet:1934, Orphanet:330699130440777130440777CA9:g.130440777C>A-
NM_001032221.6(STXBP1):c.1439C>T (p.Pro480Leu)6812STXBP1Pathogenicrs796053368RCV000189615|RCV000415832|RCV000471170|RCV001260800; NMedGen:CN517202|MONDO:MONDO:0012812,MedGen:C2677326,OMIM:612164, Orphanet:1934, Orphanet:33069|MONDO:MONDO:0100062,MedGen:C0393706,OMIM:PS308350, Orphanet:1934|Human Phenotype Ontology:HP:0000730,Human Phenotype Ontology:HP:0001249,Human Phenotype Ontology9130440789130440789CTNC_000009.11:g.130440789C>TClinGen:CA318877,UniProtKB:P61764#VAR_073153C0393706 Early infantile epileptic encephalopathy;
NM_001032221.6(STXBP1):c.1457T>G (p.Met486Arg)6812STXBP1Likely pathogenic-1RCV001726702; NMONDO:MONDO:0012812,MedGen:C2677326,OMIM:612164, Orphanet:1934, Orphanet:330699130440807130440807TG130440807-
NM_001032221.6(STXBP1):c.1461+1G>T6812STXBP1Likely pathogenic-1RCV001004748|RCV001860567|RCV001541939; NMONDO:MONDO:0012812,MedGen:C2677326,OMIM:612164, Orphanet:1934, Orphanet:33069|MONDO:MONDO:0100062,MedGen:C0393706,OMIM:PS308350, Orphanet:1934|MedGen:CN5172029130440812130440812GT9:g.130440812G>T-
NM_001032221.6(STXBP1):c.1480C>T (p.Leu494Phe)6812STXBP1Uncertain significancers1554778810RCV000623946|RCV001373758|RCV001809707; NMeSH:D030342,MedGen:C0950123|MONDO:MONDO:0100062,MedGen:C0393706,OMIM:PS308350, Orphanet:1934|MONDO:MONDO:0012812,MedGen:C2677326,OMIM:612164, Orphanet:1934, Orphanet:330699130442454130442454CTNC_000009.11:g.130442454C>TClinGen:CA374938543C0950123 Inborn genetic diseases;
NM_001032221.6(STXBP1):c.1492dup (p.His498fs)6812STXBP1Pathogenicrs1564356269RCV000760209; NMONDO:MONDO:0012812,MedGen:C2677326,OMIM:612164, Orphanet:1934, Orphanet:330699130442465130442466AACNC_000009.11:g.130442466dup-
NM_001032221.6(STXBP1):c.1493_1505del (p.His498fs)6812STXBP1Likely pathogenic-1RCV001726704; NMONDO:MONDO:0012812,MedGen:C2677326,OMIM:612164, Orphanet:1934, Orphanet:330699130442467130442479CACTACCCTTATATC130442466-
NM_001032221.6(STXBP1):c.1548C>T (p.Ser516=)6812STXBP1Benign/Likely benignrs145304925RCV000186666|RCV000470734|RCV000610135|RCV000718653|RCV001705743; NMedGen:CN169374|MONDO:MONDO:0100062,MedGen:C0393706,OMIM:PS308350, Orphanet:1934|MONDO:MONDO:0012812,MedGen:C2677326,OMIM:612164, Orphanet:1934, Orphanet:33069|MedGen:C2711754|MedGen:CN5172029130444685130444685CT9:g.130444685C>TClinGen:CA221969C0393706 Early infantile epileptic encephalopathy;
NM_001032221.6(STXBP1):c.1557T>A (p.Tyr519Ter)6812STXBP1Pathogenicrs1564357089RCV000721133; NMONDO:MONDO:0012812,MedGen:C2677326,OMIM:612164, Orphanet:1934, Orphanet:330699130444694130444694TANC_000009.11:g.130444694T>A-
NM_001032221.6(STXBP1):c.1570A>T (p.Lys524Ter)6812STXBP1Pathogenicrs1842039791RCV001293010; NMONDO:MONDO:0012812,MedGen:C2677326,OMIM:612164, Orphanet:1934, Orphanet:330699130444707130444707AT130444707-
NM_001032221.6(STXBP1):c.1588G>T (p.Glu530Ter)6812STXBP1Pathogenicrs756998073RCV001089742; NMONDO:MONDO:0012812,MedGen:C2677326,OMIM:612164, Orphanet:1934, Orphanet:330699130444725130444725GT9:g.130444725G>T-
NM_001032221.6(STXBP1):c.1630G>T (p.Gly544Cys)6812STXBP1Pathogenicrs1842044505RCV001262157|RCV001552557; NMONDO:MONDO:0012812,MedGen:C2677326,OMIM:612164, Orphanet:1934, Orphanet:33069|MedGen:CN5172029130444767130444767GT9:g.130444767G>T-
NM_001032221.6(STXBP1):c.1631G>A (p.Gly544Asp)6812STXBP1Pathogenicrs121918317RCV000007118; NMONDO:MONDO:0012812,MedGen:C2677326,OMIM:612164, Orphanet:1934, Orphanet:330699130444768130444768GA9:g.130444768G>AClinGen:CA118448,UniProtKB:P61764#VAR_046208,OMIM:602926.0001C2677326 612164 Early infantile epileptic encephalopathy 4;
NM_001032221.6(STXBP1):c.1631G>T (p.Gly544Val)6812STXBP1Pathogenicrs121918317RCV000494083|RCV000791831|RCV001290393; NMedGen:CN517202|MONDO:MONDO:0100062,MedGen:C0393706,OMIM:PS308350, Orphanet:1934|MONDO:MONDO:0012812,MedGen:C2677326,OMIM:612164, Orphanet:1934, Orphanet:330699130444768130444768GTNC_000009.11:g.130444768G>TClinGen:CA374939370CN517202 not provided;
NM_001032221.6(STXBP1):c.1651C>A (p.Arg551Ser)6812STXBP1Pathogenic/Likely pathogenicrs796053373RCV000189622|RCV000789013; NMedGen:CN517202|MONDO:MONDO:0012812,MedGen:C2677326,OMIM:612164, Orphanet:1934, Orphanet:330699130444788130444788CANC_000009.11:g.130444788C>AClinGen:CA318890CN517202 not provided;
NM_001032221.6(STXBP1):c.1651C>T (p.Arg551Cys)6812STXBP1Pathogenicrs796053373RCV000189623|RCV000415936|RCV001071757|RCV001265516|RCV001420235; NMedGen:CN517202|MONDO:MONDO:0012812,MedGen:C2677326,OMIM:612164, Orphanet:1934, Orphanet:33069|MONDO:MONDO:0100062,MedGen:C0393706,OMIM:PS308350, Orphanet:1934|MONDO:MONDO:0020071,MedGen:CN206975, Orphanet:98258|9130444788130444788CT9:g.130444788C>TClinGen:CA318892C2677326 612164 Early infantile epileptic encephalopathy 4;
NM_001032221.6(STXBP1):c.1652G>A (p.Arg551His)6812STXBP1Pathogenic-1RCV000686294|RCV001270414; NMONDO:MONDO:0100062,MedGen:C0393706,OMIM:PS308350, Orphanet:1934|MONDO:MONDO:0012812,MedGen:C2677326,OMIM:612164, Orphanet:1934, Orphanet:330699130444789130444789GANC_000009.11:g.130444789G>A-C0393706 Early infantile epileptic encephalopathy;
NM_001032221.6(STXBP1):c.1656C>A (p.Cys552Ter)6812STXBP1Pathogenicrs942940725RCV001215125|RCV001799745; NMONDO:MONDO:0100062,MedGen:C0393706,OMIM:PS308350, Orphanet:1934|MONDO:MONDO:0012812,MedGen:C2677326,OMIM:612164, Orphanet:1934, Orphanet:330699130444793130444793CA9:g.130444793C>A-
NM_001032221.6(STXBP1):c.1680C>T (p.Asn560=)6812STXBP1Conflicting interpretations of pathogenicityrs201809337RCV000128322|RCV000147702|RCV000720150|RCV000863608; NMedGen:CN169374|MONDO:MONDO:0012812,MedGen:C2677326,OMIM:612164, Orphanet:1934, Orphanet:33069|MedGen:C2711754|MONDO:MONDO:0100062,MedGen:C0393706,OMIM:PS308350, Orphanet:19349130444817130444817CT9:g.130444817C>TClinGen:CA173634C2677326 612164 Early infantile epileptic encephalopathy 4;
NM_001032221.6(STXBP1):c.1702+1G>A6812STXBP1Pathogenicrs796053377RCV000189627|RCV000578282|RCV000796895|RCV001265152|RCV001253119; NMedGen:CN517202||MONDO:MONDO:0100062,MedGen:C0393706,OMIM:PS308350, Orphanet:1934|MONDO:MONDO:0020071,MedGen:CN206975, Orphanet:98258|MONDO:MONDO:0012812,MedGen:C2677326,OMIM:612164, Orphanet:1934, Orphanet:330699130444840130444840GANC_000009.11:g.130444840G>AClinGen:CA318900CN517202 not provided;
NM_001032221.6(STXBP1):c.1702+10C>T6812STXBP1Conflicting interpretations of pathogenicityrs147607230RCV000128323|RCV000230027|RCV000616011; NMedGen:CN169374|MONDO:MONDO:0100062,MedGen:C0393706,OMIM:PS308350, Orphanet:1934|MONDO:MONDO:0012812,MedGen:C2677326,OMIM:612164, Orphanet:1934, Orphanet:330699130444849130444849CT9:g.130444849C>TClinGen:CA293799C0393706 Early infantile epileptic encephalopathy;
NM_001032221.6(STXBP1):c.1702+1861G>A6812STXBP1Uncertain significancers746172968RCV000626112|RCV001045780; NMONDO:MONDO:0012812,MedGen:C2677326,OMIM:612164, Orphanet:1934, Orphanet:33069|MONDO:MONDO:0100062,MedGen:C0393706,OMIM:PS308350, Orphanet:19349130446700130446700GA9:g.130446700G>AClinGen:CA5248629C2677326 612164 Early infantile epileptic encephalopathy 4;
GRCh37/hg19 9q33.3-34.11(chr9:128512347-130702572)x1-1subset of 29 genes: ENG:LMX1B:Pathogenic-1RCV001263247; NMONDO:MONDO:0012812,MedGen:C2677326,OMIM:612164, Orphanet:1934, Orphanet:33069; MONDO:MONDO:0008061,MedGen:C0027341,OMIM:161200, Orphanet:26149128512347130702572nana-1-
MSeqDR Portal