MSeqDR Mitochondrial Disease Portal


 
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Parent Node:
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Spasms, Infantile (D013036)
..Starting node
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Epileptic Encephalopathy, Early Infantile, 1 (C567924)

       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:4292
Name:Epileptic Encephalopathy, Early Infantile, 1
Definition:
Alternative IDs:OMIM:308350
ParentIDs:MESH:D013036
TreeNumbers:C10.228.140.490.375.760/C567924 |C10.228.140.490.493.875/C567924
Synonyms:Early Infantile Epileptic Encephalopathy |EIEE1 |Infantile Epileptic-Dyskinetic Encephalopathy |Infantile Spasm Syndrome, X-Linked 1 |ISSX1 |Ohtahara Syndrome |OHTAHARA SYNDROME, X-LINKED |West Syndrome, X-Linked |X-linked infantile spasms |X-linked infantile spa
Slim Mappings:Nervous system disease
Reference: MedGen: C567924
MeSH: C567924
OMIM: 308350;
MSeqDR LSDB:  
Genes: ARX; PHOX2A;
Phenotypes
1 HP:0001419X-linked recessive inheritance
2 HP:0001266Choreoathetosis
3 HP:0002015Dysphagia
NAMDC:  Dysphagia
4 HP:0002094Dyspnea
NAMDC:  Chronic shortness of breath
5 HP:0001332Dystonia
NAMDC:  Dystonia
6 HP:0200134Epileptic encephalopathy
7 HP:0002123Generalized myoclonic seizures
8 HP:0001347Hyperreflexia
NAMDC:  Hyperreactive reflexes (incl. Babinski sign, Hoffman sign)
9 HP:0001276Hypertonia
10 HP:0002521Hypsarrhythmia
11 HP:0001249Intellectual disability
12 HP:0000252Microcephaly
13 HP:0008936Muscular hypotonia of the trunk
14 HP:0001257Spasticity
NAMDC:  Spasticity
15 HP:0002119Ventriculomegaly
Disease Causing ClinVar Variants
Variation_NameGeneIDGeneSymbolClinicalSignificancedbSNPRCVaccessionTestedInGTRPhenotypeIDsChromosomeStartStopHGVS_cHGVS_pHGVS_gOtherIDsDisease_ClinVar
NM_001182.5(ALDH7A1):c.1480G>C (p.Gly494Arg)501ALDH7A1Uncertain significance-1RCV002284143; NMONDO:MONDO:0010632,MedGen:C3463992,OMIM:3083505125885630125885630125885630-
NM_001182.5(ALDH7A1):c.1111C>T (p.Pro371Ser)501ALDH7A1Conflicting interpretations of pathogenicity1045606047RCV002248965|RCV002283583; NMONDO:MONDO:0009945,MedGen:C1849508,OMIM:266100, Orphanet:3006|MONDO:MONDO:0010632,MedGen:C3463992,OMIM:3083505125890068125890068125890068-
NM_001099922.3(ALG13):c.880C>T (p.Pro294Ser)79868ALG13Conflicting interpretations of pathogenicity753556936RCV000714743|RCV001521268; NMONDO:MONDO:0010632,MedGen:C3463992,OMIM:308350|MONDO:MONDO:0010472,MedGen:C4317295,OMIM:300884, Orphanet:324422X110954948110954948NC_000023.10:g.110954948C>T-
NM_001099922.3(ALG13):c.1831C>T (p.Leu611Phe)79868ALG13Likely benign199505558RCV000613209|RCV000650339|RCV002508941; NMedGen:CN169374|MONDO:MONDO:0010472,MedGen:C4317295,OMIM:300884, Orphanet:324422|MONDO:MONDO:0010632,MedGen:C3463992,OMIM:308350; MONDO:MONDO:0015286,MedGen:C0282577, Orphanet:137X110970138110970138X:g.110970138C>TClinGen:CA10493772C3550904 300884 Epileptic encephalopathy, early infantile, 36;
NM_001353921.2(ARHGEF9):c.1115G>A (p.Arg372His)23229ARHGEF9Conflicting interpretations of pathogenicity2048831313RCV001267081|RCV001587309|RCV001824943|RCV002298921; NMeSH:D030342,MedGen:C0950123|MedGen:C3661900|MONDO:MONDO:0010632,MedGen:C3463992,OMIM:308350|MONDO:MONDO:0010375,MedGen:C1845102,OMIM:300607, Orphanet:163985, Orphanet:2076X6287558062875580X:g.62875580C>T-
NM_001353921.2(ARHGEF9):c.1107_1108insT (p.Lys370Ter)23229ARHGEF9not provided2147218877RCV001825308; NMONDO:MONDO:0010632,MedGen:C3463992,OMIM:308350X628755876287558862875587-
NC_000023.10:g.(?_24483573)_(25033854_?)del170302ARXPathogenic-1RCV003123114; NMONDO:MONDO:0010317,MedGen:C0796244,OMIM:300419, Orphanet:777; MONDO:MONDO:0010632,MedGen:C3463992,OMIM:308350X2448357325033854-
NC_000023.10:g.(?_24512839)_(25033854_?)dup170302ARXUncertain significance-1RCV003123115; NMONDO:MONDO:0010317,MedGen:C0796244,OMIM:300419, Orphanet:777; MONDO:MONDO:0010632,MedGen:C3463992,OMIM:308350X2451283925033854-
NC_000023.10:g.(?_24544305)_(25025566_?)dup170302ARXUncertain significance-1RCV001967987; NMONDO:MONDO:0010632,MedGen:C3463992,OMIM:308350; MONDO:MONDO:0010317,MedGen:C0796244,OMIM:300419, Orphanet:777X2454430525025566-1-
NC_000023.10:g.(?_25013922)_(25025556_?)dup170302ARXUncertain significance-1RCV000796785; NMONDO:MONDO:0010632,MedGen:C3463992,OMIM:308350; MONDO:MONDO:0010317,MedGen:C0796244,OMIM:300419, Orphanet:777X2501392225025556-
NM_139058.3(ARX):c.1449-816_*460del170302ARXPathogenic-1RCV000011940; NMONDO:MONDO:0010632,MedGen:C3463992,OMIM:308350X250223272502384325022326OMIM:300382.0004
NC_000023.10:g.(?_25022767)_(25033874_?)dup170302ARXUncertain significance-1RCV000650193; NMONDO:MONDO:0010632,MedGen:C3463992,OMIM:308350; MONDO:MONDO:0010317,MedGen:C0796244,OMIM:300419, Orphanet:777X2502276725033874-C3463992 308350 Epileptic encephalopathy, early infantile, 1;
NM_139058.3(ARX):c.1684T>C (p.Cys562Arg)170302ARXUncertain significance2048668859RCV001262666; NMONDO:MONDO:0010632,MedGen:C3463992,OMIM:308350X2502279225022792X:g.25022792A>G-
NM_139058.3(ARX):c.1677G>A (p.Lys559=)170302ARXLikely benign2147318581RCV001403994; NMONDO:MONDO:0010317,MedGen:C0796244,OMIM:300419, Orphanet:777; MONDO:MONDO:0010632,MedGen:C3463992,OMIM:308350X250227992502279925022799-
NM_139058.3(ARX):c.1674C>A (p.Gly558=)170302ARXLikely benign888094094RCV001423007; NMONDO:MONDO:0010317,MedGen:C0796244,OMIM:300419, Orphanet:777; MONDO:MONDO:0010632,MedGen:C3463992,OMIM:308350X2502280225022802X:g.25022802G>T-
NM_139058.3(ARX):c.1671G>A (p.Thr557=)170302ARXConflicting interpretations of pathogenicity190910161RCV000082603|RCV000415758|RCV000532975|RCV002313831; NMedGen:CN169374|MedGen:C3661900|MONDO:MONDO:0010632,MedGen:C3463992,OMIM:308350; MONDO:MONDO:0010317,MedGen:C0796244,OMIM:300419, Orphanet:777|MeSH:D030342,MedGen:C0950123X2502280525022805X:g.25022805C>TClinGen:CA149541C3463992 308350 Epileptic encephalopathy, early infantile, 1;
NM_139058.3(ARX):c.1668C>T (p.Ser556=)170302ARXLikely benign1281833018RCV000705401|RCV000842306; NMONDO:MONDO:0010317,MedGen:C0796244,OMIM:300419, Orphanet:777; MONDO:MONDO:0010632,MedGen:C3463992,OMIM:308350|MedGen:CN517202X2502280825022808NC_000023.10:g.25022808G>A-C3463992 308350 Epileptic encephalopathy, early infantile, 1;
NM_139058.3(ARX):c.1621G>T (p.Glu541Ter)170302ARXUncertain significance938274319RCV002009407; NMONDO:MONDO:0010632,MedGen:C3463992,OMIM:308350; MONDO:MONDO:0010317,MedGen:C0796244,OMIM:300419, Orphanet:777X250228552502285525022855-
NM_139058.3(ARX):c.1593_1620del (p.Ser531fs)170302ARXLikely pathogenic1601945599RCV000990552|RCV002249595; NMONDO:MONDO:0010632,MedGen:C3463992,OMIM:308350|MONDO:MONDO:0010224,MedGen:C0796124,OMIM:300004, Orphanet:2508X2502285625022883X:g.25022856_25022883del-
NM_139058.3(ARX):c.1618A>G (p.Lys540Glu)170302ARXUncertain significance2048669310RCV001315467; NMONDO:MONDO:0010632,MedGen:C3463992,OMIM:308350; MONDO:MONDO:0010317,MedGen:C0796244,OMIM:300419, Orphanet:777X250228582502285825022858-
NM_139058.3(ARX):c.1616C>T (p.Ala539Val)170302ARXUncertain significance2048669327RCV001225881; NMONDO:MONDO:0010317,MedGen:C0796244,OMIM:300419, Orphanet:777; MONDO:MONDO:0010632,MedGen:C3463992,OMIM:308350X2502286025022860X:g.25022860G>A-
NM_139058.3(ARX):c.1615G>A (p.Ala539Thr)170302ARXLikely pathogenic2147318633RCV002023895; NMONDO:MONDO:0010632,MedGen:C3463992,OMIM:308350; MONDO:MONDO:0010317,MedGen:C0796244,OMIM:300419, Orphanet:777X250228612502286125022861-
NM_139058.3(ARX):c.1611C>G (p.Leu537=)170302ARXLikely benign-1RCV002727352; NMONDO:MONDO:0010317,MedGen:C0796244,OMIM:300419, Orphanet:777; MONDO:MONDO:0010632,MedGen:C3463992,OMIM:308350X2502286525022865-
NM_139058.3(ARX):c.1610T>C (p.Leu537Pro)170302ARXUncertain significance-1RCV002510624; NMONDO:MONDO:0010632,MedGen:C3463992,OMIM:308350X2502286625022866NC_000023.10:g.25022866A>G-
NM_139058.3(ARX):c.1607G>C (p.Arg536Thr)170302ARXLikely pathogenic2048669411RCV001089499|RCV002505668; NMONDO:MONDO:0010632,MedGen:C3463992,OMIM:308350|MedGen:CN517202X2502286925022869X:g.25022869C>G-
NM_139058.3(ARX):c.1605G>C (p.Leu535=)170302ARXLikely benign1480681695RCV000762614|RCV002067205; NMedGen:C3661900|MONDO:MONDO:0010632,MedGen:C3463992,OMIM:308350; MONDO:MONDO:0010317,MedGen:C0796244,OMIM:300419, Orphanet:777X2502287125022871NC_000023.10:g.25022871C>G-
NM_139058.3(ARX):c.1604T>A (p.Leu535Gln)170302ARXPathogenic387906715RCV000022857; NMONDO:MONDO:0010632,MedGen:C3463992,OMIM:308350X2502287225022872X:g.25022872A>TClinGen:CA128802,OMIM:300382.0024C3463992 308350 Epileptic encephalopathy, early infantile, 1;
NM_139058.3(ARX):c.1600G>C (p.Ala534Pro)170302ARXLikely pathogenic-1RCV003050594; NMONDO:MONDO:0010632,MedGen:C3463992,OMIM:308350; MONDO:MONDO:0010317,MedGen:C0796244,OMIM:300419, Orphanet:777X2502287625022876NC_000023.10:g.25022876C>G-
NM_139058.3(ARX):c.1599C>G (p.Ala533=)170302ARXBenign/Likely benign1057523196RCV000868394|RCV001712817|RCV002399914; NMONDO:MONDO:0010317,MedGen:C0796244,OMIM:300419, Orphanet:777; MONDO:MONDO:0010632,MedGen:C3463992,OMIM:308350|MedGen:CN517202|MeSH:D030342,MedGen:C0950123X2502287725022877X:g.25022877G>C-
NM_139058.3(ARX):c.1589C>G (p.Ser530Cys)170302ARXUncertain significance2048669628RCV001089719; NMONDO:MONDO:0010632,MedGen:C3463992,OMIM:308350X2502288725022887X:g.25022887G>C-
NM_139058.3(ARX):c.1587C>T (p.Ala529=)170302ARXLikely benign1601945617RCV001401526; NMONDO:MONDO:0010632,MedGen:C3463992,OMIM:308350; MONDO:MONDO:0010317,MedGen:C0796244,OMIM:300419, Orphanet:777X2502288925022889X:g.25022889G>A-
NM_139058.3(ARX):c.1587C>G (p.Ala529=)170302ARXLikely benign-1RCV003016127; NMONDO:MONDO:0010632,MedGen:C3463992,OMIM:308350; MONDO:MONDO:0010317,MedGen:C0796244,OMIM:300419, Orphanet:777X2502288925022889-
NM_139058.3(ARX):c.1579A>T (p.Arg527Ter)170302ARXPathogenic1601945626RCV000821543; NMONDO:MONDO:0010632,MedGen:C3463992,OMIM:308350; MONDO:MONDO:0010317,MedGen:C0796244,OMIM:300419, Orphanet:777X2502289725022897X:g.25022897T>A-
NM_139058.3(ARX):c.1575A>T (p.Ala525=)170302ARXLikely benign-1RCV002606490; NMONDO:MONDO:0010317,MedGen:C0796244,OMIM:300419, Orphanet:777; MONDO:MONDO:0010632,MedGen:C3463992,OMIM:308350X2502290125022901-
NM_139058.3(ARX):c.1572C>T (p.Ala524=)170302ARXLikely benign1601945631RCV000867328|RCV001472314; NMedGen:CN517202|MONDO:MONDO:0010317,MedGen:C0796244,OMIM:300419, Orphanet:777; MONDO:MONDO:0010632,MedGen:C3463992,OMIM:308350X2502290425022904X:g.25022904G>A-
NM_139058.3(ARX):c.1569G>C (p.Ala523=)170302ARXLikely benign1601945635RCV001506335; NMONDO:MONDO:0010317,MedGen:C0796244,OMIM:300419, Orphanet:777; MONDO:MONDO:0010632,MedGen:C3463992,OMIM:308350X2502290725022907X:g.25022907C>G-
NM_139058.3(ARX):c.1561G>A (p.Ala521Thr)170302ARXUncertain significance746120093RCV000193135|RCV000624792|RCV001046771|RCV001249486; NMedGen:CN169374|MeSH:D030342,MedGen:C0950123|MONDO:MONDO:0010632,MedGen:C3463992,OMIM:308350; MONDO:MONDO:0010317,MedGen:C0796244,OMIM:300419, Orphanet:777|Human Phenotype Ontology:HP:0000730,Human Phenotype Ontology:HP:0001249,Human Phenotype Ontology:HPX2502291525022915X:g.25022915C>TClinGen:CA206413,UniProtKB:Q96QS3#VAR_033263C0950123 Inborn genetic diseases;
NM_139058.3(ARX):c.1520_1560del (p.Ala507fs)170302ARXUncertain significance1569393457RCV000695939; NMONDO:MONDO:0010317,MedGen:C0796244,OMIM:300419, Orphanet:777; MONDO:MONDO:0010632,MedGen:C3463992,OMIM:308350X2502291625022956NC_000023.10:g.25022921_25022961del-C3463992 308350 Epileptic encephalopathy, early infantile, 1;
NM_139058.3(ARX):c.1555_1556insGG (p.Asp519fs)170302ARXPathogenic1601945655RCV000794657; NMONDO:MONDO:0010632,MedGen:C3463992,OMIM:308350; MONDO:MONDO:0010317,MedGen:C0796244,OMIM:300419, Orphanet:777X2502292025022921X:g.25022920_25022921insCC-
NM_139058.3(ARX):c.1546G>T (p.Ala516Ser)170302ARXUncertain significance747042039RCV001253320|RCV003321816; NMONDO:MONDO:0010632,MedGen:C3463992,OMIM:308350|MedGen:CN517202X2502293025022930X:g.25022930C>A-
NM_139058.3(ARX):c.1546G>C (p.Ala516Pro)170302ARXUncertain significance747042039RCV002010607; NMONDO:MONDO:0010317,MedGen:C0796244,OMIM:300419, Orphanet:777; MONDO:MONDO:0010632,MedGen:C3463992,OMIM:308350X250229302502293025022930-
NM_139058.3(ARX):c.1542G>A (p.Ser514=)170302ARXLikely benign1240255602RCV001432114; NMONDO:MONDO:0010632,MedGen:C3463992,OMIM:308350; MONDO:MONDO:0010317,MedGen:C0796244,OMIM:300419, Orphanet:777X250229342502293425022934-
NM_139058.3(ARX):c.1542G>C (p.Ser514=)170302ARXLikely benign1240255602RCV002217794; NMONDO:MONDO:0010632,MedGen:C3463992,OMIM:308350; MONDO:MONDO:0010317,MedGen:C0796244,OMIM:300419, Orphanet:777X250229342502293425022934-
NM_139058.3(ARX):c.1541C>G (p.Ser514Trp)170302ARXUncertain significance2048670174RCV001228805; NMONDO:MONDO:0010317,MedGen:C0796244,OMIM:300419, Orphanet:777; MONDO:MONDO:0010632,MedGen:C3463992,OMIM:308350X2502293525022935X:g.25022935G>C-
NM_139058.3(ARX):c.1533A>G (p.Ala511=)170302ARXLikely benign1556046751RCV000607392|RCV002529652; NMedGen:CN169374|MONDO:MONDO:0010632,MedGen:C3463992,OMIM:308350; MONDO:MONDO:0010317,MedGen:C0796244,OMIM:300419, Orphanet:777X2502294325022943X:g.25022943T>CClinGen:CA515748099CN169374 not specified;
NM_139058.3(ARX):c.1529G>A (p.Gly510Asp)170302ARXUncertain significance2048670328RCV001233444; NMONDO:MONDO:0010317,MedGen:C0796244,OMIM:300419, Orphanet:777; MONDO:MONDO:0010632,MedGen:C3463992,OMIM:308350X2502294725022947X:g.25022947C>T-
NM_139058.3(ARX):c.1524G>A (p.Val508=)170302ARXBenign1056460685RCV001518596; NMONDO:MONDO:0010317,MedGen:C0796244,OMIM:300419, Orphanet:777; MONDO:MONDO:0010632,MedGen:C3463992,OMIM:308350X250229522502295225022952-
NM_139058.3(ARX):c.1522G>A (p.Val508Met)170302ARXUncertain significance2048670414RCV001253235; NMONDO:MONDO:0010632,MedGen:C3463992,OMIM:308350X2502295425022954X:g.25022954C>T-
NM_139058.3(ARX):c.1521C>A (p.Ala507=)170302ARXBenign/Likely benign777179729RCV000607313|RCV000650186; NMedGen:CN169374|MONDO:MONDO:0010632,MedGen:C3463992,OMIM:308350; MONDO:MONDO:0010317,MedGen:C0796244,OMIM:300419, Orphanet:777X2502295525022955X:g.25022955G>TClinGen:CA10373772C3463992 308350 Epileptic encephalopathy, early infantile, 1;
NM_139058.3(ARX):c.1518C>G (p.Pro506=)170302ARXLikely benign1601945679RCV001422882; NMONDO:MONDO:0010317,MedGen:C0796244,OMIM:300419, Orphanet:777; MONDO:MONDO:0010632,MedGen:C3463992,OMIM:308350X2502295825022958X:g.25022958G>C-
NM_139058.3(ARX):c.1515A>G (p.Thr505=)170302ARXLikely benign398124509RCV000558656|RCV001702805|RCV002395453; NMONDO:MONDO:0010317,MedGen:C0796244,OMIM:300419, Orphanet:777; MONDO:MONDO:0010632,MedGen:C3463992,OMIM:308350|MedGen:C3661900|MeSH:D030342,MedGen:C0950123X2502296125022961X:g.25022961T>CClinGen:CA10373773C3463992 308350 Epileptic encephalopathy, early infantile, 1;
NM_139058.3(ARX):c.1503G>A (p.Leu501=)170302ARXLikely benign2147318758RCV001469310; NMONDO:MONDO:0010632,MedGen:C3463992,OMIM:308350; MONDO:MONDO:0010317,MedGen:C0796244,OMIM:300419, Orphanet:777X250229732502297325022973-
NM_139058.3(ARX):c.1498C>A (p.Leu500Ile)170302ARXUncertain significance2147318762RCV001996530; NMONDO:MONDO:0010317,MedGen:C0796244,OMIM:300419, Orphanet:777; MONDO:MONDO:0010632,MedGen:C3463992,OMIM:308350X250229782502297825022978-
NM_139058.3(ARX):c.1497G>C (p.Ala499=)170302ARXLikely benign770318189RCV001405674; NMONDO:MONDO:0010632,MedGen:C3463992,OMIM:308350; MONDO:MONDO:0010317,MedGen:C0796244,OMIM:300419, Orphanet:777X250229792502297925022979-
NM_139058.3(ARX):c.1497G>A (p.Ala499=)170302ARXLikely benign770318189RCV001435660; NMONDO:MONDO:0010632,MedGen:C3463992,OMIM:308350; MONDO:MONDO:0010317,MedGen:C0796244,OMIM:300419, Orphanet:777X250229792502297925022979-
NM_139058.3(ARX):c.1497G>T (p.Ala499=)170302ARXLikely benign770318189RCV002079132|RCV002079133; NMONDO:MONDO:0010632,MedGen:C3463992,OMIM:308350; MONDO:MONDO:0010317,MedGen:C0796244,OMIM:300419, Orphanet:777|MedGen:C3661900X250229792502297925022979-
NM_139058.3(ARX):c.1497del (p.Leu500fs)170302ARXPathogenic-1RCV003030880; NMONDO:MONDO:0010632,MedGen:C3463992,OMIM:308350; MONDO:MONDO:0010317,MedGen:C0796244,OMIM:300419, Orphanet:777X2502297925022979NC_000023.10:g.25022979del-
NM_139058.3(ARX):c.1496C>T (p.Ala499Val)170302ARXUncertain significance-1RCV003111805; NMONDO:MONDO:0010317,MedGen:C0796244,OMIM:300419, Orphanet:777; MONDO:MONDO:0010632,MedGen:C3463992,OMIM:308350X2502298025022980NC_000023.10:g.25022980G>A-
NM_139058.3(ARX):c.1495G>C (p.Ala499Pro)170302ARXUncertain significance2147318769RCV001933696|RCV003222367; NMONDO:MONDO:0010317,MedGen:C0796244,OMIM:300419, Orphanet:777; MONDO:MONDO:0010632,MedGen:C3463992,OMIM:308350|MedGen:C3661900X250229812502298125022981-
NM_139058.3(ARX):c.1491G>T (p.Ala497=)170302ARXLikely benign1021002740RCV001396772; NMONDO:MONDO:0010317,MedGen:C0796244,OMIM:300419, Orphanet:777; MONDO:MONDO:0010632,MedGen:C3463992,OMIM:308350X2502298525022985X:g.25022985C>A-
NM_139058.3(ARX):c.1489G>C (p.Ala497Pro)170302ARXUncertain significance1556046847RCV000576761; NMONDO:MONDO:0010632,MedGen:C3463992,OMIM:308350X2502298725022987X:g.25022987C>GClinGen:CA412610902C3463992 308350 Epileptic encephalopathy, early infantile, 1;
NM_139058.3(ARX):c.1488C>T (p.Thr496=)170302ARXLikely benign773666007RCV000865069; NMONDO:MONDO:0010632,MedGen:C3463992,OMIM:308350; MONDO:MONDO:0010317,MedGen:C0796244,OMIM:300419, Orphanet:777X2502298825022988X:g.25022988G>A-
NM_139058.3(ARX):c.1479C>T (p.Ser493=)170302ARXLikely benign-1RCV003025035; NMONDO:MONDO:0010317,MedGen:C0796244,OMIM:300419, Orphanet:777; MONDO:MONDO:0010632,MedGen:C3463992,OMIM:308350X2502299725022997-
NM_139058.3(ARX):c.1475C>G (p.Thr492Ser)170302ARXUncertain significance766065019RCV001211809|RCV002473222; NMONDO:MONDO:0010317,MedGen:C0796244,OMIM:300419, Orphanet:777; MONDO:MONDO:0010632,MedGen:C3463992,OMIM:308350|MedGen:CN517202X2502300125023001X:g.25023001G>C-
NM_139058.3(ARX):c.1473G>C (p.Leu491=)170302ARXLikely benign-1RCV002801776; NMONDO:MONDO:0010317,MedGen:C0796244,OMIM:300419, Orphanet:777; MONDO:MONDO:0010632,MedGen:C3463992,OMIM:308350X2502300325023003-
NM_139058.3(ARX):c.1472del (p.Leu491fs)170302ARXPathogenic2147318790RCV001730128; NMONDO:MONDO:0010632,MedGen:C3463992,OMIM:308350X250230042502300425023003-
NM_139058.3(ARX):c.1471del (p.Pro490_Leu491insTer)170302ARXPathogenic797045292RCV001093393|RCV001230061; NMedGen:C3661900|MONDO:MONDO:0010317,MedGen:C0796244,OMIM:300419, Orphanet:777; MONDO:MONDO:0010632,MedGen:C3463992,OMIM:308350X2502300525023005X:g.25023005_25023005del-
NM_139058.3(ARX):c.1471C>A (p.Leu491Met)170302ARXConflicting interpretations of pathogenicity752807804RCV001307820|RCV002393731; NMONDO:MONDO:0010317,MedGen:C0796244,OMIM:300419, Orphanet:777; MONDO:MONDO:0010632,MedGen:C3463992,OMIM:308350|MeSH:D030342,MedGen:C0950123X250230052502300525023005-
NM_139058.3(ARX):c.1469C>T (p.Pro490Leu)170302ARXUncertain significance2048670837RCV001230060; NMONDO:MONDO:0010317,MedGen:C0796244,OMIM:300419, Orphanet:777; MONDO:MONDO:0010632,MedGen:C3463992,OMIM:308350X2502300725023007X:g.25023007G>A-
NM_139058.3(ARX):c.1465del (p.Ala489fs)170302ARXPathogenic587783191RCV000011957|RCV000145047; NMONDO:MONDO:0010632,MedGen:C3463992,OMIM:308350|MONDO:MONDO:0010268,MedGen:C1846171,OMIM:300215, Orphanet:452X2502301125023011NC_000023.10:g.25023012delClinGen:CA213235,OMIM:300382.0021
NM_139058.3(ARX):c.1463T>C (p.Met488Thr)170302ARXUncertain significance759074085RCV000522985|RCV001372572; NMedGen:CN517202|MONDO:MONDO:0010632,MedGen:C3463992,OMIM:308350; MONDO:MONDO:0010317,MedGen:C0796244,OMIM:300419, Orphanet:777X2502301325023013X:g.25023013A>GClinGen:CA10373779CN169374 not specified;
NM_139058.3(ARX):c.1462A>G (p.Met488Val)170302ARXConflicting interpretations of pathogenicity767404024RCV000503084|RCV001214951|RCV001562919|RCV002395212; NMedGen:CN169374|MONDO:MONDO:0010632,MedGen:C3463992,OMIM:308350; MONDO:MONDO:0010317,MedGen:C0796244,OMIM:300419, Orphanet:777|MedGen:CN517202|MeSH:D030342,MedGen:C0950123X2502301425023014NC_000023.10:g.25023014T>CClinGen:CA10373780CN169374 not specified;
NM_139058.3(ARX):c.1449-3C>A170302ARXUncertain significance1295206345RCV001340038; NMONDO:MONDO:0010317,MedGen:C0796244,OMIM:300419, Orphanet:777; MONDO:MONDO:0010632,MedGen:C3463992,OMIM:308350X250230302502303025023030-
NM_139058.3(ARX):c.1449-13G>A170302ARXLikely benign-1RCV003036057; NMONDO:MONDO:0010317,MedGen:C0796244,OMIM:300419, Orphanet:777; MONDO:MONDO:0010632,MedGen:C3463992,OMIM:308350X2502304025023040NC_000023.10:g.25023040C>T-
NM_139058.3(ARX):c.1448+16G>A170302ARXLikely benign-1RCV002756672; NMONDO:MONDO:0010317,MedGen:C0796244,OMIM:300419, Orphanet:777; MONDO:MONDO:0010632,MedGen:C3463992,OMIM:308350X2502521225025212NC_000023.10:g.25025212C>T-
NM_139058.3(ARX):c.1448+15C>T170302ARXLikely benign2147320273RCV002162265; NMONDO:MONDO:0010632,MedGen:C3463992,OMIM:308350; MONDO:MONDO:0010317,MedGen:C0796244,OMIM:300419, Orphanet:777X250252132502521325025213-
NM_139058.3(ARX):c.1448+14T>C170302ARXLikely benign1201797048RCV002101765; NMONDO:MONDO:0010632,MedGen:C3463992,OMIM:308350; MONDO:MONDO:0010317,MedGen:C0796244,OMIM:300419, Orphanet:777X250252142502521425025214-
NM_139058.3(ARX):c.1448+10A>G170302ARXLikely benign774033566RCV001405141; NMONDO:MONDO:0010632,MedGen:C3463992,OMIM:308350; MONDO:MONDO:0010317,MedGen:C0796244,OMIM:300419, Orphanet:777X250252182502521825025218-
NM_139058.3(ARX):c.1448+9C>A170302ARXLikely benign759009252RCV000868379; NMONDO:MONDO:0010317,MedGen:C0796244,OMIM:300419, Orphanet:777; MONDO:MONDO:0010632,MedGen:C3463992,OMIM:308350X2502521925025219X:g.25025219G>T-
NM_139058.3(ARX):c.1448+7_1448+9del170302ARXLikely benign2147320285RCV001460239; NMONDO:MONDO:0010632,MedGen:C3463992,OMIM:308350; MONDO:MONDO:0010317,MedGen:C0796244,OMIM:300419, Orphanet:777X250252192502522125025218-
NM_139058.3(ARX):c.1448G>C (p.Arg483Thr)170302ARXUncertain significance-1RCV003040137; NMONDO:MONDO:0010317,MedGen:C0796244,OMIM:300419, Orphanet:777; MONDO:MONDO:0010632,MedGen:C3463992,OMIM:308350X2502522825025228NC_000023.10:g.25025228C>G-
NM_139058.3(ARX):c.1444G>A (p.Gly482Ser)170302ARXLikely pathogenic1468724042RCV001003472; NMONDO:MONDO:0010632,MedGen:C3463992,OMIM:308350X2502523225025232X:g.25025232C>T-
NM_139058.3(ARX):c.1443dup (p.Gly482fs)170302ARXPathogenic2147320305RCV001387395; NMONDO:MONDO:0010317,MedGen:C0796244,OMIM:300419, Orphanet:777; MONDO:MONDO:0010632,MedGen:C3463992,OMIM:308350X250252322502523325025232-
NM_139058.3(ARX):c.1430del (p.Ile477fs)170302ARXPathogenic-1RCV002306444; NMONDO:MONDO:0010632,MedGen:C3463992,OMIM:308350X250252462502524625025245-
NM_139058.3(ARX):c.1414_1428del (p.Arg472_Phe476del)170302ARXPathogenic1601946492RCV000990553; NMONDO:MONDO:0010632,MedGen:C3463992,OMIM:308350X2502524825025262X:g.25025248_25025262del-
NM_139058.3(ARX):c.1428C>T (p.Phe476=)170302ARXLikely benign-1RCV002847378; NMONDO:MONDO:0010632,MedGen:C3463992,OMIM:308350; MONDO:MONDO:0010317,MedGen:C0796244,OMIM:300419, Orphanet:777X2502524825025248-
NM_139058.3(ARX):c.1425T>C (p.Ala475=)170302ARXConflicting interpretations of pathogenicity2147320329RCV001480314|RCV001820178; NMONDO:MONDO:0010317,MedGen:C0796244,OMIM:300419, Orphanet:777; MONDO:MONDO:0010632,MedGen:C3463992,OMIM:308350|MedGen:CN169374X250252512502525125025251-
NM_139058.3(ARX):c.1404G>T (p.Ala468=)170302ARXLikely benign794727657RCV002141707; NMONDO:MONDO:0010632,MedGen:C3463992,OMIM:308350; MONDO:MONDO:0010317,MedGen:C0796244,OMIM:300419, Orphanet:777X250252722502527225025272-
NM_139058.3(ARX):c.1404G>A (p.Ala468=)170302ARXLikely benign-1RCV003063831; NMONDO:MONDO:0010317,MedGen:C0796244,OMIM:300419, Orphanet:777; MONDO:MONDO:0010632,MedGen:C3463992,OMIM:308350X2502527225025272-
NM_139058.3(ARX):c.1400G>T (p.Gly467Val)170302ARXUncertain significance587783188RCV000145044|RCV001849975; NMedGen:CN221281|MONDO:MONDO:0010632,MedGen:C3463992,OMIM:308350; MONDO:MONDO:0010317,MedGen:C0796244,OMIM:300419, Orphanet:777X2502527625025276NC_000023.10:g.25025276C>AClinGen:CA171143CN221281 epileptic encephalopathy, early infanitle, 1;
NM_139058.3(ARX):c.1369_1391del (p.Gly457fs)170302ARXPathogenic1601946502RCV000990554; NMONDO:MONDO:0010632,MedGen:C3463992,OMIM:308350X2502528525025307X:g.25025285_25025307del-
NM_139058.3(ARX):c.1389C>T (p.Ser463=)170302ARXLikely benign760617042RCV002128209|RCV003438968; NMONDO:MONDO:0010632,MedGen:C3463992,OMIM:308350; MONDO:MONDO:0010317,MedGen:C0796244,OMIM:300419, Orphanet:777|MedGen:C3661900X250252872502528725025287-
NM_139058.3(ARX):c.1388G>A (p.Ser463Asn)170302ARXUncertain significance763950769RCV000650176; NMONDO:MONDO:0010632,MedGen:C3463992,OMIM:308350; MONDO:MONDO:0010317,MedGen:C0796244,OMIM:300419, Orphanet:777X2502528825025288X:g.25025288C>TClinGen:CA10373804C3463992 308350 Epileptic encephalopathy, early infantile, 1;
NM_139058.3(ARX):c.1374G>A (p.Ala458=)170302ARXLikely benign-1RCV002731528; NMONDO:MONDO:0010317,MedGen:C0796244,OMIM:300419, Orphanet:777; MONDO:MONDO:0010632,MedGen:C3463992,OMIM:308350X2502530225025302-
NM_139058.3(ARX):c.1372G>A (p.Ala458Thr)170302ARXUncertain significance-1RCV002780121; NMONDO:MONDO:0010317,MedGen:C0796244,OMIM:300419, Orphanet:777; MONDO:MONDO:0010632,MedGen:C3463992,OMIM:308350X2502530425025304NC_000023.10:g.25025304C>T-
NM_139058.3(ARX):c.1371G>T (p.Gly457=)170302ARXLikely benign781348930RCV002038859; NMONDO:MONDO:0010317,MedGen:C0796244,OMIM:300419, Orphanet:777; MONDO:MONDO:0010632,MedGen:C3463992,OMIM:308350X250253052502530525025305-
NM_139058.3(ARX):c.1369G>A (p.Gly457Arg)170302ARXUncertain significance-1RCV002630815; NMONDO:MONDO:0010317,MedGen:C0796244,OMIM:300419, Orphanet:777; MONDO:MONDO:0010632,MedGen:C3463992,OMIM:308350X2502530725025307NC_000023.10:g.25025307C>T-
NM_139058.3(ARX):c.1361C>T (p.Pro454Leu)170302ARXUncertain significance2147320384RCV001892841; NMONDO:MONDO:0010632,MedGen:C3463992,OMIM:308350; MONDO:MONDO:0010317,MedGen:C0796244,OMIM:300419, Orphanet:777X250253152502531525025315-
NM_139058.3(ARX):c.1354A>G (p.Ser452Gly)170302ARXUncertain significance-1RCV002296469; NMONDO:MONDO:0010317,MedGen:C0796244,OMIM:300419, Orphanet:777; MONDO:MONDO:0010632,MedGen:C3463992,OMIM:308350X250253222502532225025322-
NM_139058.3(ARX):c.1347C>T (p.Gly449=)170302ARXBenign75489697RCV000082601|RCV000576415|RCV002311739; NMedGen:CN169374|MONDO:MONDO:0010632,MedGen:C3463992,OMIM:308350; MONDO:MONDO:0010317,MedGen:C0796244,OMIM:300419, Orphanet:777|MeSH:D030342,MedGen:C0950123X2502532925025329X:g.25025329G>AClinGen:CA149539C3463992 308350 Epileptic encephalopathy, early infantile, 1;
NM_139058.3(ARX):c.1345G>A (p.Gly449Ser)170302ARXBenign2147320401RCV001516069; NMONDO:MONDO:0010632,MedGen:C3463992,OMIM:308350; MONDO:MONDO:0010317,MedGen:C0796244,OMIM:300419, Orphanet:777X250253312502533125025331-
NM_139058.3(ARX):c.1287_1339dup (p.Pro447fs)170302ARXPathogenic2048682045RCV001222747; NMONDO:MONDO:0010317,MedGen:C0796244,OMIM:300419, Orphanet:777; MONDO:MONDO:0010632,MedGen:C3463992,OMIM:308350X2502533625025337X:g.25025336_25025337insGCGGAGGTAGGCTCGGGAAGGCGGCGGCGGCGGCGGCGGCAGCGGCAGTCCAA-
NM_139058.3(ARX):c.1330C>T (p.Leu444=)170302ARXLikely benign-1RCV002811609; NMONDO:MONDO:0010317,MedGen:C0796244,OMIM:300419, Orphanet:777; MONDO:MONDO:0010632,MedGen:C3463992,OMIM:308350X2502534625025346-
NM_139058.3(ARX):c.1327A>G (p.Ser443Gly)170302ARXUncertain significance2048682085RCV001046513; NMONDO:MONDO:0010632,MedGen:C3463992,OMIM:308350; MONDO:MONDO:0010317,MedGen:C0796244,OMIM:300419, Orphanet:777X2502534925025349X:g.25025349T>C-
NM_139058.3(ARX):c.1326G>C (p.Pro442=)170302ARXLikely benign774538294RCV001406278; NMONDO:MONDO:0010632,MedGen:C3463992,OMIM:308350; MONDO:MONDO:0010317,MedGen:C0796244,OMIM:300419, Orphanet:777X250253502502535025025350-
NM_139058.3(ARX):c.1326G>A (p.Pro442=)170302ARXLikely benign774538294RCV002093012; NMONDO:MONDO:0010632,MedGen:C3463992,OMIM:308350; MONDO:MONDO:0010317,MedGen:C0796244,OMIM:300419, Orphanet:777X250253502502535025025350-
NM_139058.3(ARX):c.1325C>T (p.Pro442Leu)170302ARXUncertain significance-1RCV003038836; NMONDO:MONDO:0010317,MedGen:C0796244,OMIM:300419, Orphanet:777; MONDO:MONDO:0010632,MedGen:C3463992,OMIM:308350X2502535125025351NC_000023.10:g.25025351G>A-
NM_139058.3(ARX):c.1300GCC[8] (p.Ala440dup)170302ARXBenign/Likely benign398124508RCV000145042|RCV000484947|RCV000623262|RCV001088171; NMedGen:C3661900|MedGen:CN169374|MeSH:D030342,MedGen:C0950123|MONDO:MONDO:0010632,MedGen:C3463992,OMIM:308350; MONDO:MONDO:0010317,MedGen:C0796244,OMIM:300419, Orphanet:777X2502535525025356NC_000023.10:g.25025356GGC[8]ClinGen:CA233282C3463992 308350 Epileptic encephalopathy, early infantile, 1;
NM_139058.3(ARX):c.1300GCC[9] (p.Ala439_Ala440dup)170302ARXConflicting interpretations of pathogenicity398124508RCV001311829|RCV001316569|RCV002528724; NMedGen:C3661900|MONDO:MONDO:0010317,MedGen:C0796244,OMIM:300419, Orphanet:777; MONDO:MONDO:0010632,MedGen:C3463992,OMIM:308350|MeSH:D030342,MedGen:C0950123X2502535525025356X:g.25025355_25025356insGGCGGCClinGen:CA515947029CN169374 not specified;
NM_139058.3(ARX):c.1300GCC[10] (p.Ala438_Ala440dup)170302ARXUncertain significance398124508RCV000818033|RCV002317581; NMONDO:MONDO:0010317,MedGen:C0796244,OMIM:300419, Orphanet:777; MONDO:MONDO:0010632,MedGen:C3463992,OMIM:308350|MeSH:D030342,MedGen:C0950123X2502535525025356NC_000023.10:g.25025356GGC[10]-
NM_139058.3(ARX):c.1300GCC[6] (p.Ala440del)170302ARXConflicting interpretations of pathogenicity398124508RCV000458511|RCV001196746|RCV002318529; NMONDO:MONDO:0010317,MedGen:C0796244,OMIM:300419, Orphanet:777; MONDO:MONDO:0010632,MedGen:C3463992,OMIM:308350|MONDO:MONDO:0010317,MedGen:C0796244,OMIM:300419, Orphanet:777|MeSH:D030342,MedGen:C0950123X2502535625025358NC_000023.10:g.25025356GGC[6]ClinGen:CA10373816C3463992 308350 Epileptic encephalopathy, early infantile, 1;
NM_139058.3(ARX):c.1300GCC[4] (p.Ala438_Ala440del)170302ARXConflicting interpretations of pathogenicity398124508RCV001312993|RCV003456488; NMONDO:MONDO:0010632,MedGen:C3463992,OMIM:308350; MONDO:MONDO:0010317,MedGen:C0796244,OMIM:300419, Orphanet:777|MedGen:C3661900X250253562502536425025355-
NM_139058.3(ARX):c.1300GCC[5] (p.Ala439_Ala440del)170302ARXConflicting interpretations of pathogenicity398124508RCV001581601|RCV002573273; NMedGen:C3661900|MONDO:MONDO:0010317,MedGen:C0796244,OMIM:300419, Orphanet:777; MONDO:MONDO:0010632,MedGen:C3463992,OMIM:308350X250253562502536125025355-
NM_139058.3(ARX):c.1314C>T (p.Ala438=)170302ARXLikely benign-1RCV002815515; NMONDO:MONDO:0010317,MedGen:C0796244,OMIM:300419, Orphanet:777; MONDO:MONDO:0010632,MedGen:C3463992,OMIM:308350X2502536225025362-
NM_139058.3(ARX):c.1299_1310del (p.Ala437_Ala440del)170302ARXUncertain significance776061068RCV002036037; NMONDO:MONDO:0010632,MedGen:C3463992,OMIM:308350; MONDO:MONDO:0010317,MedGen:C0796244,OMIM:300419, Orphanet:777X250253662502537725025365-
NM_139058.3(ARX):c.1308C>T (p.Ala436=)170302ARXLikely benign-1RCV002861589; NMONDO:MONDO:0010632,MedGen:C3463992,OMIM:308350; MONDO:MONDO:0010317,MedGen:C0796244,OMIM:300419, Orphanet:777X2502536825025368-
NM_139058.3(ARX):c.1293TGCCGC[1] (p.Ala439_Ala440del)170302ARXConflicting interpretations of pathogenicity1064794482RCV000483403|RCV001856842; NMedGen:CN169374|MONDO:MONDO:0010632,MedGen:C3463992,OMIM:308350; MONDO:MONDO:0010317,MedGen:C0796244,OMIM:300419, Orphanet:777X2502537225025377X:g.25025372_25025377delClinGen:CA16621350CN169374 not specified;
NM_139058.3(ARX):c.1299T>A (p.Ala433=)170302ARXUncertain significance952488301RCV001344132; NMONDO:MONDO:0010317,MedGen:C0796244,OMIM:300419, Orphanet:777; MONDO:MONDO:0010632,MedGen:C3463992,OMIM:308350X250253772502537725025377-
NM_139058.3(ARX):c.1298C>T (p.Ala433Val)170302ARXUncertain significance2147320466RCV002027042; NMONDO:MONDO:0010632,MedGen:C3463992,OMIM:308350; MONDO:MONDO:0010317,MedGen:C0796244,OMIM:300419, Orphanet:777X250253782502537825025378-
NM_139058.3(ARX):c.1296C>T (p.Ala432=)170302ARXBenign/Likely benign990653917RCV001648638|RCV002072995; NMedGen:C3661900|MONDO:MONDO:0010317,MedGen:C0796244,OMIM:300419, Orphanet:777; MONDO:MONDO:0010632,MedGen:C3463992,OMIM:308350X250253802502538025025380-
NM_139058.3(ARX):c.1285G>T (p.Ala429Ser)170302ARXUncertain significance-1RCV002967335; NMONDO:MONDO:0010632,MedGen:C3463992,OMIM:308350; MONDO:MONDO:0010317,MedGen:C0796244,OMIM:300419, Orphanet:777X2502539125025391NC_000023.10:g.25025391C>A-
NM_139058.3(ARX):c.1284C>T (p.Ser428=)170302ARXLikely benign1202135194RCV002195855; NMONDO:MONDO:0010632,MedGen:C3463992,OMIM:308350; MONDO:MONDO:0010317,MedGen:C0796244,OMIM:300419, Orphanet:777X250253922502539225025392-
NM_139058.3(ARX):c.1278C>G (p.Leu426=)170302ARXLikely benign-1RCV002829297; NMONDO:MONDO:0010632,MedGen:C3463992,OMIM:308350; MONDO:MONDO:0010317,MedGen:C0796244,OMIM:300419, Orphanet:777X2502539825025398-
NM_139058.3(ARX):c.1273G>A (p.Ala425Thr)170302ARXUncertain significance-1RCV003027841; NMONDO:MONDO:0010317,MedGen:C0796244,OMIM:300419, Orphanet:777; MONDO:MONDO:0010632,MedGen:C3463992,OMIM:308350X2502540325025403NC_000023.10:g.25025403C>T-
NM_139058.3(ARX):c.1272G>A (p.Pro424=)170302ARXConflicting interpretations of pathogenicity398124507RCV000082599|RCV000723583|RCV001366119; NMedGen:CN169374|MedGen:C3661900|MONDO:MONDO:0010317,MedGen:C0796244,OMIM:300419, Orphanet:777; MONDO:MONDO:0010632,MedGen:C3463992,OMIM:308350X2502540425025404X:g.25025404C>TClinGen:CA224121CN169374 not specified;
NM_139058.3(ARX):c.1272G>T (p.Pro424=)170302ARXBenign/Likely benign398124507RCV001519758|RCV001720031; NMONDO:MONDO:0010632,MedGen:C3463992,OMIM:308350; MONDO:MONDO:0010317,MedGen:C0796244,OMIM:300419, Orphanet:777|MedGen:C3661900X2502540425025404X:g.25025404C>AClinGen:CA10373821CN169374 not specified;
NM_139058.3(ARX):c.1271C>T (p.Pro424Leu)170302ARXUncertain significance2147320493RCV001885942|RCV003154209; NMONDO:MONDO:0010317,MedGen:C0796244,OMIM:300419, Orphanet:777; MONDO:MONDO:0010632,MedGen:C3463992,OMIM:308350|MedGen:C3661900X250254052502540525025405-
NM_139058.3(ARX):c.1265ACC[1] (p.His423del)170302ARXUncertain significance2147320498RCV001917609; NMONDO:MONDO:0010632,MedGen:C3463992,OMIM:308350; MONDO:MONDO:0010317,MedGen:C0796244,OMIM:300419, Orphanet:777X250254062502540825025405-
NM_139058.3(ARX):c.1270C>G (p.Pro424Ala)170302ARXUncertain significance2147320496RCV002009436; NMONDO:MONDO:0010632,MedGen:C3463992,OMIM:308350; MONDO:MONDO:0010317,MedGen:C0796244,OMIM:300419, Orphanet:777X250254062502540625025406-
NM_139058.3(ARX):c.1269C>T (p.His423=)170302ARXConflicting interpretations of pathogenicity794727656RCV000650183|RCV000724610|RCV002317048; NMONDO:MONDO:0010632,MedGen:C3463992,OMIM:308350; MONDO:MONDO:0010317,MedGen:C0796244,OMIM:300419, Orphanet:777|MedGen:C3661900|MeSH:D030342,MedGen:C0950123X2502540725025407X:g.25025407G>AClinGen:CA245473C3463992 308350 Epileptic encephalopathy, early infantile, 1;
NM_139058.3(ARX):c.1263G>C (p.Pro421=)170302ARXLikely benign923672115RCV000610575|RCV001489556; NMedGen:CN169374|MONDO:MONDO:0010632,MedGen:C3463992,OMIM:308350; MONDO:MONDO:0010317,MedGen:C0796244,OMIM:300419, Orphanet:777X2502541325025413X:g.25025413C>GClinGen:CA327732619CN169374 not specified;
NM_139058.3(ARX):c.1263G>T (p.Pro421=)170302ARXLikely benign-1RCV002750802; NMONDO:MONDO:0010317,MedGen:C0796244,OMIM:300419, Orphanet:777; MONDO:MONDO:0010632,MedGen:C3463992,OMIM:308350X2502541325025413-
NM_139058.3(ARX):c.1261C>G (p.Pro421Ala)170302ARXUncertain significance1417254985RCV001991543; NMONDO:MONDO:0010632,MedGen:C3463992,OMIM:308350; MONDO:MONDO:0010317,MedGen:C0796244,OMIM:300419, Orphanet:777X250254152502541525025415-
NM_139058.3(ARX):c.1257C>T (p.Phe419=)170302ARXLikely benign1248729100RCV002086586; NMONDO:MONDO:0010632,MedGen:C3463992,OMIM:308350; MONDO:MONDO:0010317,MedGen:C0796244,OMIM:300419, Orphanet:777X250254192502541925025419-
NM_139058.3(ARX):c.1253C>G (p.Pro418Arg)170302ARXUncertain significance2048682725RCV001170000; NMONDO:MONDO:0010632,MedGen:C3463992,OMIM:308350X2502542325025423X:g.25025423G>C-
NM_139058.3(ARX):c.1247C>G (p.Ala416Gly)170302ARXBenign/Likely benign778734352RCV001512734|RCV002315379; NMONDO:MONDO:0010632,MedGen:C3463992,OMIM:308350; MONDO:MONDO:0010317,MedGen:C0796244,OMIM:300419, Orphanet:777|MeSH:D030342,MedGen:C0950123X2502542925025429NC_000023.10:g.25025429G>C-
NM_139058.3(ARX):c.1245C>T (p.Asp415=)170302ARXLikely benign2147320537RCV001433352; NMONDO:MONDO:0010632,MedGen:C3463992,OMIM:308350; MONDO:MONDO:0010317,MedGen:C0796244,OMIM:300419, Orphanet:777X250254312502543125025431-
NM_139058.3(ARX):c.1233C>T (p.Ser411=)170302ARXLikely benign1275814443RCV001407514|RCV001762673; NMONDO:MONDO:0010317,MedGen:C0796244,OMIM:300419, Orphanet:777; MONDO:MONDO:0010632,MedGen:C3463992,OMIM:308350|MedGen:C3661900X250254432502544325025443-
NM_139058.3(ARX):c.1226C>A (p.Pro409Gln)170302ARXUncertain significance1601946603RCV000799400; NMONDO:MONDO:0010632,MedGen:C3463992,OMIM:308350; MONDO:MONDO:0010317,MedGen:C0796244,OMIM:300419, Orphanet:777X2502545025025450X:g.25025450G>T-
NM_139058.3(ARX):c.1209G>A (p.Pro403=)170302ARXLikely benign1380487514RCV001441372; NMONDO:MONDO:0010317,MedGen:C0796244,OMIM:300419, Orphanet:777; MONDO:MONDO:0010632,MedGen:C3463992,OMIM:308350X2502546725025467X:g.25025467C>T-
NM_139058.3(ARX):c.1209G>C (p.Pro403=)170302ARXConflicting interpretations of pathogenicity1380487514RCV000999358|RCV001415888; NMedGen:C3661900|MONDO:MONDO:0010317,MedGen:C0796244,OMIM:300419, Orphanet:777; MONDO:MONDO:0010632,MedGen:C3463992,OMIM:308350X2502546725025467X:g.25025467C>G-
NM_139058.3(ARX):c.1203G>C (p.Pro401=)170302ARXLikely benign-1RCV003017571; NMONDO:MONDO:0010632,MedGen:C3463992,OMIM:308350; MONDO:MONDO:0010317,MedGen:C0796244,OMIM:300419, Orphanet:777X2502547325025473-
NM_139058.3(ARX):c.1194G>T (p.Leu398=)170302ARXLikely benign1211813471RCV002209157; NMONDO:MONDO:0010632,MedGen:C3463992,OMIM:308350; MONDO:MONDO:0010317,MedGen:C0796244,OMIM:300419, Orphanet:777X250254822502548225025482-
NM_139058.3(ARX):c.1187dup (p.Gly397fs)170302ARXPathogenic/Likely pathogenic1328291159RCV000011945|RCV001194458|RCV001389322; NMONDO:MONDO:0010268,MedGen:C1846171,OMIM:300215, Orphanet:452|MONDO:MONDO:0010317,MedGen:C0796244,OMIM:300419, Orphanet:777|MONDO:MONDO:0010632,MedGen:C3463992,OMIM:308350; MONDO:MONDO:0010317,MedGen:C0796244,OMIM:300419, Orphanet:777X2502548825025489X:g.25025488_25025489insGOMIM:300382.0009C1846171 300215 Lissencephaly 2, X-linked;
NM_139058.3(ARX):c.1186C>G (p.Pro396Ala)170302ARXUncertain significance776523818RCV001238492|RCV003234012; NMONDO:MONDO:0010632,MedGen:C3463992,OMIM:308350; MONDO:MONDO:0010317,MedGen:C0796244,OMIM:300419, Orphanet:777|MedGen:CN517202X2502549025025490X:g.25025490G>C-
NM_139058.3(ARX):c.1186C>A (p.Pro396Thr)170302ARXUncertain significance776523818RCV001303155; NMONDO:MONDO:0010317,MedGen:C0796244,OMIM:300419, Orphanet:777; MONDO:MONDO:0010632,MedGen:C3463992,OMIM:308350X250254902502549025025490-
NM_139058.3(ARX):c.1182C>T (p.His394=)170302ARXLikely benign950461742RCV002066501; NMONDO:MONDO:0010317,MedGen:C0796244,OMIM:300419, Orphanet:777; MONDO:MONDO:0010632,MedGen:C3463992,OMIM:308350X2502549425025494X:g.25025494G>A-
NM_139058.3(ARX):c.1170C>T (p.Gly390=)170302ARXConflicting interpretations of pathogenicity761632870RCV000217574|RCV000764873|RCV001366501|RCV002317744; NMedGen:C3661900|MONDO:MONDO:0010224,MedGen:C0796124,OMIM:300004, Orphanet:2508; MONDO:MONDO:0010268,MedGen:C1846171,OMIM:300215, Orphanet:452; MONDO:MONDO:0010632,MedGen:C3463992,OMIM:308350; MONDO:MONDO:0010654,MedGen:C0796250,OMIM:309510, Orphanet:94083; MONX2502550625025506X:g.25025506G>AClinGen:CA10373824CN169374 not specified;
NM_139058.3(ARX):c.1155G>A (p.Lys385=)170302ARXLikely benign1053434875RCV002085202; NMONDO:MONDO:0010632,MedGen:C3463992,OMIM:308350; MONDO:MONDO:0010317,MedGen:C0796244,OMIM:300419, Orphanet:777X250255212502552125025521-
NM_139058.3(ARX):c.1150C>T (p.Arg384Cys)170302ARXPathogenic-1RCV003072879; NMONDO:MONDO:0010317,MedGen:C0796244,OMIM:300419, Orphanet:777; MONDO:MONDO:0010632,MedGen:C3463992,OMIM:308350X2502552625025526NC_000023.10:g.25025526G>A-
NM_139058.3(ARX):c.1143C>T (p.Ala381=)170302ARXLikely benign-1RCV002909190; NMONDO:MONDO:0010632,MedGen:C3463992,OMIM:308350; MONDO:MONDO:0010317,MedGen:C0796244,OMIM:300419, Orphanet:777X2502553325025533-
NM_139058.3(ARX):c.1142C>G (p.Ala381Gly)170302ARXUncertain significance-1RCV002304587; NMONDO:MONDO:0010317,MedGen:C0796244,OMIM:300419, Orphanet:777; MONDO:MONDO:0010632,MedGen:C3463992,OMIM:308350X250255342502553425025534-
NM_139058.3(ARX):c.1135C>T (p.Arg379Cys)170302ARXLikely pathogenic1556049714RCV001231316; NMONDO:MONDO:0010317,MedGen:C0796244,OMIM:300419, Orphanet:777; MONDO:MONDO:0010632,MedGen:C3463992,OMIM:308350X2502554125025541X:g.25025541G>A-
NM_139058.3(ARX):c.1135C>A (p.Arg379Ser)170302ARXLikely pathogenic1556049714RCV002023909; NMONDO:MONDO:0010632,MedGen:C3463992,OMIM:308350; MONDO:MONDO:0010317,MedGen:C0796244,OMIM:300419, Orphanet:777X250255412502554125025541-
NM_139058.3(ARX):c.1128C>G (p.Phe376Leu)170302ARXConflicting interpretations of pathogenicity2048683301RCV001253619|RCV001255345; NMONDO:MONDO:0010632,MedGen:C3463992,OMIM:308350|Human Phenotype Ontology:HP:0000730,Human Phenotype Ontology:HP:0001249,Human Phenotype Ontology:HP:0001267,Human Phenotype Ontology:HP:0001286,Human Phenotype Ontology:HP:0002122,Human Phenotype Ontology:X2502554825025548X:g.25025548G>C-
NM_139058.3(ARX):c.1125G>A (p.Trp375Ter)170302ARXPathogenic2147320638RCV001883211; NMONDO:MONDO:0010632,MedGen:C3463992,OMIM:308350; MONDO:MONDO:0010317,MedGen:C0796244,OMIM:300419, Orphanet:777X250255512502555125025551-
NM_139058.3(ARX):c.1120-2A>G170302ARXPathogenic2147320644RCV001984673; NMONDO:MONDO:0010317,MedGen:C0796244,OMIM:300419, Orphanet:777; MONDO:MONDO:0010632,MedGen:C3463992,OMIM:308350X250255582502555825025558-
NM_139058.3(ARX):c.1120-4G>A170302ARXLikely benign-1RCV003009650; NMONDO:MONDO:0010632,MedGen:C3463992,OMIM:308350; MONDO:MONDO:0010317,MedGen:C0796244,OMIM:300419, Orphanet:777X2502556025025560NC_000023.10:g.25025560C>T-
NM_139058.3(ARX):c.1120-5del170302ARXLikely benign2147320646RCV002201781; NMONDO:MONDO:0010632,MedGen:C3463992,OMIM:308350; MONDO:MONDO:0010317,MedGen:C0796244,OMIM:300419, Orphanet:777X250255612502556125025560-
NM_139058.3(ARX):c.1120-17CT[3]170302ARXLikely benign763304807RCV002104771; NMONDO:MONDO:0010632,MedGen:C3463992,OMIM:308350; MONDO:MONDO:0010317,MedGen:C0796244,OMIM:300419, Orphanet:777X250255662502556725025565-
NM_139058.3(ARX):c.1120-12T>G170302ARXLikely benign-1RCV002856734; NMONDO:MONDO:0010632,MedGen:C3463992,OMIM:308350; MONDO:MONDO:0010317,MedGen:C0796244,OMIM:300419, Orphanet:777X2502556825025568NC_000023.10:g.25025568A>C-
NM_139058.3(ARX):c.1119+20G>A170302ARXLikely benign2048696652RCV002155307; NMONDO:MONDO:0010632,MedGen:C3463992,OMIM:308350; MONDO:MONDO:0010317,MedGen:C0796244,OMIM:300419, Orphanet:777X250283572502835725028357-
NM_139058.3(ARX):c.1119+16G>A170302ARXLikely benign-1RCV002952527; NMONDO:MONDO:0010632,MedGen:C3463992,OMIM:308350; MONDO:MONDO:0010317,MedGen:C0796244,OMIM:300419, Orphanet:777X2502836125028361NC_000023.10:g.25028361C>T-
NM_139058.3(ARX):c.1119+6C>T170302ARXConflicting interpretations of pathogenicity201300786RCV000420138|RCV000734488|RCV001088866; NMedGen:CN169374|MedGen:C3661900|MONDO:MONDO:0010317,MedGen:C0796244,OMIM:300419, Orphanet:777; MONDO:MONDO:0010632,MedGen:C3463992,OMIM:308350X2502837125028371X:g.25028371G>AClinGen:CA10373836C3463992 308350 Epileptic encephalopathy, early infantile, 1;
NC_000023.10:g.(?_25028377)_(25033854_?)dup170302ARXUncertain significance-1RCV000796784; NMONDO:MONDO:0010632,MedGen:C3463992,OMIM:308350; MONDO:MONDO:0010317,MedGen:C0796244,OMIM:300419, Orphanet:777X2502837725033854-
NM_139058.3(ARX):c.1111del (p.Arg371fs)170302ARXPathogenic-1RCV002938665; NMONDO:MONDO:0010632,MedGen:C3463992,OMIM:308350; MONDO:MONDO:0010317,MedGen:C0796244,OMIM:300419, Orphanet:777X2502838525028385NC_000023.10:g.25028387del-
NM_139058.3(ARX):c.1105G>A (p.Glu369Lys)170302ARXConflicting interpretations of pathogenicity104894746RCV000442107|RCV000779752|RCV000990555|RCV001372869; NMedGen:CN517202|MedGen:CN169374|MONDO:MONDO:0010632,MedGen:C3463992,OMIM:308350|MONDO:MONDO:0010632,MedGen:C3463992,OMIM:308350; MONDO:MONDO:0010317,MedGen:C0796244,OMIM:300419, Orphanet:777X2502839125028391X:g.25028391C>TClinGen:CA16608407CN517202 not provided;
NM_139058.3(ARX):c.1104C>T (p.Thr368=)170302ARXLikely benign771822246RCV002066161; NMONDO:MONDO:0010632,MedGen:C3463992,OMIM:308350; MONDO:MONDO:0010317,MedGen:C0796244,OMIM:300419, Orphanet:777X2502839225028392X:g.25028392G>A-
NM_139058.3(ARX):c.1074-3T>C170302ARXBenign200700643RCV000145037|RCV000650187|RCV001727581|RCV002312544; NMedGen:CN169374|MONDO:MONDO:0010632,MedGen:C3463992,OMIM:308350; MONDO:MONDO:0010317,MedGen:C0796244,OMIM:300419, Orphanet:777|MedGen:C3661900|MeSH:D030342,MedGen:C0950123X2502842525028425X:g.25028425A>GClinGen:CA171140C3463992 308350 Epileptic encephalopathy, early infantile, 1;
NM_139058.3(ARX):c.1073+19C>T170302ARXLikely benign2048708046RCV002215679; NMONDO:MONDO:0010632,MedGen:C3463992,OMIM:308350; MONDO:MONDO:0010317,MedGen:C0796244,OMIM:300419, Orphanet:777X250310202503102025031020-
NM_139058.3(ARX):c.1073+9G>C170302ARXLikely benign779717915RCV001471103; NMONDO:MONDO:0010632,MedGen:C3463992,OMIM:308350; MONDO:MONDO:0010317,MedGen:C0796244,OMIM:300419, Orphanet:777X2503103025031030X:g.25031030C>G-
NM_139058.3(ARX):c.1073+6C>T170302ARXUncertain significance1176939436RCV001926944; NMONDO:MONDO:0010632,MedGen:C3463992,OMIM:308350; MONDO:MONDO:0010317,MedGen:C0796244,OMIM:300419, Orphanet:777X250310332503103325031033-
NM_139058.3(ARX):c.1073+4T>C170302ARXUncertain significance1460686418RCV002007902; NMONDO:MONDO:0010632,MedGen:C3463992,OMIM:308350; MONDO:MONDO:0010317,MedGen:C0796244,OMIM:300419, Orphanet:777X250310352503103525031035-
NM_139058.3(ARX):c.1073G>A (p.Arg358Lys)170302ARXUncertain significance2147323521RCV001808078; NMONDO:MONDO:0010632,MedGen:C3463992,OMIM:308350X250310392503103925031039-
NM_139058.3(ARX):c.1059G>A (p.Pro353=)170302ARXLikely benign1060504804RCV001446121; NMONDO:MONDO:0010632,MedGen:C3463992,OMIM:308350; MONDO:MONDO:0010317,MedGen:C0796244,OMIM:300419, Orphanet:777X2503105325031053NC_000023.10:g.25031053C>TClinGen:CA16616468C3463992 308350 Epileptic encephalopathy, early infantile, 1;
NM_139058.3(ARX):c.1058C>T (p.Pro353Leu)170302ARXPathogenic104894743RCV000011939; NMONDO:MONDO:0010632,MedGen:C3463992,OMIM:308350X2503105425031054X:g.25031054G>AClinGen:CA121410,UniProtKB:Q96QS3#VAR_015180,OMIM:300382.0003C3463992 308350 Epileptic encephalopathy, early infantile, 1;
NM_139058.3(ARX):c.1041C>G (p.Phe347Leu)170302ARXUncertain significance1060503040RCV000470846; NMONDO:MONDO:0010632,MedGen:C3463992,OMIM:308350; MONDO:MONDO:0010317,MedGen:C0796244,OMIM:300419, Orphanet:777X2503107125031071NC_000023.10:g.25031071G>CClinGen:CA16616659C3463992 308350 Epileptic encephalopathy, early infantile, 1;
NM_139058.3(ARX):c.1039T>G (p.Phe347Val)170302ARXLikely pathogenic1556054888RCV000585827; NMONDO:MONDO:0010632,MedGen:C3463992,OMIM:308350X2503107325031073X:g.25031073A>CClinGen:CA412611898C3463992 308350 Epileptic encephalopathy, early infantile, 1;
NM_139058.3(ARX):c.1039T>C (p.Phe347Leu)170302ARXUncertain significance1556054888RCV001071777; NMONDO:MONDO:0010632,MedGen:C3463992,OMIM:308350; MONDO:MONDO:0010317,MedGen:C0796244,OMIM:300419, Orphanet:777X2503107325031073X:g.25031073A>G-
NM_139058.3(ARX):c.1033C>A (p.Arg345=)170302ARXLikely benign1601948273RCV000940083; NMONDO:MONDO:0010632,MedGen:C3463992,OMIM:308350; MONDO:MONDO:0010317,MedGen:C0796244,OMIM:300419, Orphanet:777X2503107925031079X:g.25031079G>T-
NM_139058.3(ARX):c.1027C>T (p.Leu343=)170302ARXLikely benign370974597RCV002121608; NMONDO:MONDO:0010632,MedGen:C3463992,OMIM:308350; MONDO:MONDO:0010317,MedGen:C0796244,OMIM:300419, Orphanet:777X250310852503108525031085-
NM_139058.3(ARX):c.1014C>T (p.Tyr338=)170302ARXLikely benign-1RCV003028854; NMONDO:MONDO:0010632,MedGen:C3463992,OMIM:308350; MONDO:MONDO:0010317,MedGen:C0796244,OMIM:300419, Orphanet:777X2503109825031098-
NM_139058.3(ARX):c.1008C>A (p.Thr336=)170302ARXLikely benign2147323576RCV001459665; NMONDO:MONDO:0010632,MedGen:C3463992,OMIM:308350; MONDO:MONDO:0010317,MedGen:C0796244,OMIM:300419, Orphanet:777X250311042503110425031104-
NM_139058.3(ARX):c.1002_1007delinsTGTACCA (p.Phe335fs)170302ARXPathogenic869312662RCV000209847; NMONDO:MONDO:0010632,MedGen:C3463992,OMIM:308350X2503110525031110NC_000023.10:g.25031105_25031110delinsTGGTACAClinGen:CA358357C3463992 308350 Epileptic encephalopathy, early infantile, 1;
NM_139058.3(ARX):c.995G>A (p.Arg332His)170302ARXPathogenic111033612RCV000011943|RCV000145064|RCV002512976; NMONDO:MONDO:0010268,MedGen:C1846171,OMIM:300215, Orphanet:452|MedGen:CN517202|MONDO:MONDO:0010632,MedGen:C3463992,OMIM:308350; MONDO:MONDO:0010317,MedGen:C0796244,OMIM:300419, Orphanet:777X2503111725031117NC_000023.10:g.25031117C>TOMIM:300382.0007,ClinGen:CA213168,UniProtKB:Q96QS3#VAR_015178C1846171 300215 Lissencephaly 2, X-linked;
NM_139058.3(ARX):c.994C>G (p.Arg332Gly)170302ARXLikely pathogenic2147323593RCV001989538|RCV002479706; NMONDO:MONDO:0010632,MedGen:C3463992,OMIM:308350; MONDO:MONDO:0010317,MedGen:C0796244,OMIM:300419, Orphanet:777|MONDO:MONDO:0010224,MedGen:C0796124,OMIM:300004, Orphanet:2508; MONDO:MONDO:0010268,MedGen:C1846171,OMIM:300215, Orphanet:452; MONDO:MONDO:0010632,MX250311182503111825031118-
NM_139058.3(ARX):c.993C>T (p.Tyr331=)170302ARXLikely benign-1RCV003013755; NMONDO:MONDO:0010632,MedGen:C3463992,OMIM:308350; MONDO:MONDO:0010317,MedGen:C0796244,OMIM:300419, Orphanet:777X2503111925031119-
NM_139058.3(ARX):c.989G>A (p.Arg330His)170302ARXLikely pathogenic886039308RCV000255677|RCV001253064; NMedGen:CN517202|MONDO:MONDO:0010632,MedGen:C3463992,OMIM:308350X2503112325031123X:g.25031123C>TClinGen:CA10588763CN517202 not provided;
NM_139058.3(ARX):c.956C>A (p.Ser319Ter)170302ARXPathogenic2048708701RCV001215936|RCV001375968; NMONDO:MONDO:0010317,MedGen:C0796244,OMIM:300419, Orphanet:777; MONDO:MONDO:0010632,MedGen:C3463992,OMIM:308350|MONDO:MONDO:0010268,MedGen:C1846171,OMIM:300215, Orphanet:452X2503115625031156X:g.25031156G>T-
NM_139058.3(ARX):c.951C>T (p.Ser317=)170302ARXLikely benign2048708727RCV001474979; NMONDO:MONDO:0010632,MedGen:C3463992,OMIM:308350; MONDO:MONDO:0010317,MedGen:C0796244,OMIM:300419, Orphanet:777X250311612503116125031161-
NM_139058.3(ARX):c.946G>A (p.Gly316Ser)170302ARXUncertain significance2048708756RCV001262667; NMONDO:MONDO:0010632,MedGen:C3463992,OMIM:308350X2503116625031166X:g.25031166C>T-
NM_139058.3(ARX):c.944C>T (p.Ala315Val)170302ARXUncertain significance2048708779RCV001321985; NMONDO:MONDO:0010632,MedGen:C3463992,OMIM:308350; MONDO:MONDO:0010317,MedGen:C0796244,OMIM:300419, Orphanet:777X250311682503116825031168-
NM_139058.3(ARX):c.930C>T (p.Ser310=)170302ARXLikely benign1569395305RCV000701316; NMONDO:MONDO:0010317,MedGen:C0796244,OMIM:300419, Orphanet:777; MONDO:MONDO:0010632,MedGen:C3463992,OMIM:308350X2503118225031182NC_000023.10:g.25031182G>A-C3463992 308350 Epileptic encephalopathy, early infantile, 1;
NM_139058.3(ARX):c.921C>T (p.Gly307=)170302ARXLikely benign398124519RCV002025053; NMONDO:MONDO:0010632,MedGen:C3463992,OMIM:308350; MONDO:MONDO:0010317,MedGen:C0796244,OMIM:300419, Orphanet:777X250311912503119125031191-
NM_139058.3(ARX):c.921C>A (p.Gly307=)170302ARXLikely benign398124519RCV000456544|RCV001550745|RCV002313231; NMONDO:MONDO:0010632,MedGen:C3463992,OMIM:308350; MONDO:MONDO:0010317,MedGen:C0796244,OMIM:300419, Orphanet:777|MedGen:C3661900|MeSH:D030342,MedGen:C0950123X2503119125031191NC_000023.10:g.25031191G>TClinGen:CA10373862C3463992 308350 Epileptic encephalopathy, early infantile, 1;
NM_139058.3(ARX):c.904G>C (p.Ala302Pro)170302ARXUncertain significance146224124RCV000688886; NMONDO:MONDO:0010632,MedGen:C3463992,OMIM:308350; MONDO:MONDO:0010317,MedGen:C0796244,OMIM:300419, Orphanet:777X2503120825031208NC_000023.10:g.25031208C>G-C3463992 308350 Epileptic encephalopathy, early infantile, 1;
NM_139058.3(ARX):c.893A>T (p.His298Leu)170302ARXUncertain significance-1RCV003053701; NMONDO:MONDO:0010317,MedGen:C0796244,OMIM:300419, Orphanet:777; MONDO:MONDO:0010632,MedGen:C3463992,OMIM:308350X2503121925031219NC_000023.10:g.25031219T>A-
NM_139058.3(ARX):c.887T>C (p.Leu296Pro)170302ARXUncertain significance-1RCV002810985; NMONDO:MONDO:0010317,MedGen:C0796244,OMIM:300419, Orphanet:777; MONDO:MONDO:0010632,MedGen:C3463992,OMIM:308350X2503122525031225NC_000023.10:g.25031225A>G-
NM_139058.3(ARX):c.856G>A (p.Gly286Ser)170302ARXConflicting interpretations of pathogenicity28935479RCV000011950|RCV000487519|RCV001230602; NMONDO:MONDO:0010317,MedGen:C0796244,OMIM:300419, Orphanet:777|MedGen:C3661900|MONDO:MONDO:0010632,MedGen:C3463992,OMIM:308350; MONDO:MONDO:0010317,MedGen:C0796244,OMIM:300419, Orphanet:777X2503125625031256X:g.25031256C>TClinGen:CA213173,UniProtKB:Q96QS3#VAR_015671,OMIM:300382.0014C0796244 300419 Mental retardation, with or without seizures, ARX-related, X-linked;
NM_139058.3(ARX):c.855G>A (p.Glu285=)170302ARXLikely benign139301257RCV000462096|RCV000504068; NMONDO:MONDO:0010632,MedGen:C3463992,OMIM:308350; MONDO:MONDO:0010317,MedGen:C0796244,OMIM:300419, Orphanet:777|MedGen:CN169374X2503125725031257NC_000023.10:g.25031257C>TClinGen:CA10373870C3463992 308350 Epileptic encephalopathy, early infantile, 1;
NM_139058.3(ARX):c.840T>C (p.Ala280=)170302ARXLikely benign936582415RCV002172911|RCV002443103; NMONDO:MONDO:0010632,MedGen:C3463992,OMIM:308350; MONDO:MONDO:0010317,MedGen:C0796244,OMIM:300419, Orphanet:777|MeSH:D030342,MedGen:C0950123X250312722503127225031272-
NM_139058.3(ARX):c.838G>C (p.Ala280Pro)170302ARXUncertain significance-1RCV003032366; NMONDO:MONDO:0010317,MedGen:C0796244,OMIM:300419, Orphanet:777; MONDO:MONDO:0010632,MedGen:C3463992,OMIM:308350X2503127425031274NC_000023.10:g.25031274C>G-
NM_139058.3(ARX):c.837C>G (p.Ala279=)170302ARXLikely benign1190644757RCV001411413; NMONDO:MONDO:0010632,MedGen:C3463992,OMIM:308350; MONDO:MONDO:0010317,MedGen:C0796244,OMIM:300419, Orphanet:777X250312752503127525031275-
NM_139058.3(ARX):c.832G>A (p.Ala278Thr)170302ARXLikely benign751858511RCV001065208; NMONDO:MONDO:0010632,MedGen:C3463992,OMIM:308350; MONDO:MONDO:0010317,MedGen:C0796244,OMIM:300419, Orphanet:777X2503128025031280X:g.25031280C>T-
NM_139058.3(ARX):c.826G>A (p.Ala276Thr)170302ARXUncertain significance-1RCV003065501; NMONDO:MONDO:0010632,MedGen:C3463992,OMIM:308350; MONDO:MONDO:0010317,MedGen:C0796244,OMIM:300419, Orphanet:777X2503128625031286NC_000023.10:g.25031286C>T-
NM_139058.3(ARX):c.825C>T (p.Ala275=)170302ARXLikely benign922800521RCV001424630; NMONDO:MONDO:0010632,MedGen:C3463992,OMIM:308350; MONDO:MONDO:0010317,MedGen:C0796244,OMIM:300419, Orphanet:777X2503128725031287NC_000023.10:g.25031287G>AClinGen:CA16616649C3463992 308350 Epileptic encephalopathy, early infantile, 1;
NM_139058.3(ARX):c.822G>A (p.Val274=)170302ARXLikely benign-1RCV003118596; NMONDO:MONDO:0010632,MedGen:C3463992,OMIM:308350; MONDO:MONDO:0010317,MedGen:C0796244,OMIM:300419, Orphanet:777X2503129025031290-
NM_139058.3(ARX):c.821T>C (p.Val274Ala)170302ARXUncertain significance375289776RCV001366587|RCV003136037|RCV003416273; NMONDO:MONDO:0010317,MedGen:C0796244,OMIM:300419, Orphanet:777; MONDO:MONDO:0010632,MedGen:C3463992,OMIM:308350|MedGen:C3661900|X250312912503129125031291-
NM_139058.3(ARX):c.813T>C (p.Thr271=)170302ARXLikely benign-1RCV002730341; NMONDO:MONDO:0010317,MedGen:C0796244,OMIM:300419, Orphanet:777; MONDO:MONDO:0010632,MedGen:C3463992,OMIM:308350X2503129925031299-
NM_139058.3(ARX):c.808G>A (p.Ala270Thr)170302ARXConflicting interpretations of pathogenicity1057520487RCV000427566|RCV001861498; NMedGen:CN169374|MONDO:MONDO:0010317,MedGen:C0796244,OMIM:300419, Orphanet:777; MONDO:MONDO:0010632,MedGen:C3463992,OMIM:308350X2503130425031304X:g.25031304C>TClinGen:CA16608410CN169374 not specified;
NM_139058.3(ARX):c.807C>T (p.Ala269=)170302ARXBenign/Likely benign587783205RCV000145061|RCV000868747|RCV002316924|RCV002505121; NMedGen:CN169374|MONDO:MONDO:0010632,MedGen:C3463992,OMIM:308350; MONDO:MONDO:0010317,MedGen:C0796244,OMIM:300419, Orphanet:777|MeSH:D030342,MedGen:C0950123|MONDO:MONDO:0010632,MedGen:C3463992,OMIM:308350; MONDO:MONDO:0010317,MedGen:C0796244,OMIM:300419,OrpX2503130525031305X:g.25031305G>AClinGen:CA171162CN169374 not specified;
NM_139058.3(ARX):c.802G>T (p.Val268Leu)170302ARXConflicting interpretations of pathogenicity587783141RCV000144815|RCV000650188|RCV001088857|RCV002408644; NMedGen:CN169374|MedGen:C3661900|MONDO:MONDO:0010632,MedGen:C3463992,OMIM:308350; MONDO:MONDO:0010317,MedGen:C0796244,OMIM:300419, Orphanet:777|MeSH:D030342,MedGen:C0950123X2503131025031310NC_000023.10:g.25031310C>AClinGen:CA294725C3463992 308350 Epileptic encephalopathy, early infantile, 1;
NM_139058.3(ARX):c.794G>A (p.Arg265His)170302ARXUncertain significance1223069540RCV001219687|RCV002275311|RCV003318672; NMONDO:MONDO:0010317,MedGen:C0796244,OMIM:300419, Orphanet:777; MONDO:MONDO:0010632,MedGen:C3463992,OMIM:308350|Human Phenotype Ontology:HP:0001250,Human Phenotype Ontology:HP:0001275,Human Phenotype Ontology:HP:0001303,Human Phenotype Ontology:HP:0002125,X2503131825031318X:g.25031318C>T-
NM_139058.3(ARX):c.787C>T (p.Pro263Ser)170302ARXUncertain significance2147323801RCV002003577; NMONDO:MONDO:0010317,MedGen:C0796244,OMIM:300419, Orphanet:777; MONDO:MONDO:0010632,MedGen:C3463992,OMIM:308350X250313252503132525031325-
NM_139058.3(ARX):c.776T>C (p.Leu259Pro)170302ARXLikely benign774291500RCV001421488|RCV002411064; NMONDO:MONDO:0010632,MedGen:C3463992,OMIM:308350; MONDO:MONDO:0010317,MedGen:C0796244,OMIM:300419, Orphanet:777|MeSH:D030342,MedGen:C0950123X2503133625031336X:g.25031336A>GClinGen:CA10373879C3463992 308350 Epileptic encephalopathy, early infantile, 1;
NM_139058.3(ARX):c.773C>A (p.Ala258Glu)170302ARXUncertain significance759399062RCV001982356; NMONDO:MONDO:0010632,MedGen:C3463992,OMIM:308350; MONDO:MONDO:0010317,MedGen:C0796244,OMIM:300419, Orphanet:777X250313392503133925031339-
NM_139058.3(ARX):c.771C>T (p.Arg257=)170302ARXUncertain significance1601948418RCV000820325|RCV001332908; NMONDO:MONDO:0010632,MedGen:C3463992,OMIM:308350; MONDO:MONDO:0010317,MedGen:C0796244,OMIM:300419, Orphanet:777|MONDO:MONDO:0010632,MedGen:C3463992,OMIM:308350X2503134125031341X:g.25031341G>A-
NM_139058.3(ARX):c.770G>C (p.Arg257Pro)170302ARXLikely benign1239494313RCV002097180; NMONDO:MONDO:0010632,MedGen:C3463992,OMIM:308350; MONDO:MONDO:0010317,MedGen:C0796244,OMIM:300419, Orphanet:777X250313422503134225031342-
NM_139058.3(ARX):c.769C>G (p.Arg257Gly)170302ARXUncertain significance1475419182RCV000703096; NMONDO:MONDO:0010317,MedGen:C0796244,OMIM:300419, Orphanet:777; MONDO:MONDO:0010632,MedGen:C3463992,OMIM:308350X2503134325031343NC_000023.10:g.25031343G>C-C3463992 308350 Epileptic encephalopathy, early infantile, 1;
NM_139058.3(ARX):c.769C>T (p.Arg257Cys)170302ARXUncertain significance-1RCV003082803; NMONDO:MONDO:0010317,MedGen:C0796244,OMIM:300419, Orphanet:777; MONDO:MONDO:0010632,MedGen:C3463992,OMIM:308350X2503134325031343NC_000023.10:g.25031343G>A-
NM_139058.3(ARX):c.766G>C (p.Ala256Pro)170302ARXUncertain significance769056463RCV000699383; NMONDO:MONDO:0010317,MedGen:C0796244,OMIM:300419, Orphanet:777; MONDO:MONDO:0010632,MedGen:C3463992,OMIM:308350X2503134625031346NC_000023.10:g.25031346C>G-C3463992 308350 Epileptic encephalopathy, early infantile, 1;
NM_139058.3(ARX):c.743_766del (p.240EEELLEDD[1])170302ARXUncertain significance1473310605RCV001226880|RCV002563104; NMONDO:MONDO:0010317,MedGen:C0796244,OMIM:300419, Orphanet:777; MONDO:MONDO:0010632,MedGen:C3463992,OMIM:308350|MeSH:D030342,MedGen:C0950123X2503134625031369X:g.25031346_25031369del-
NM_139058.3(ARX):c.766G>A (p.Ala256Thr)170302ARXUncertain significance769056463RCV002019334; NMONDO:MONDO:0010632,MedGen:C3463992,OMIM:308350; MONDO:MONDO:0010317,MedGen:C0796244,OMIM:300419, Orphanet:777X250313462503134625031346-
NM_139058.3(ARX):c.765C>T (p.Asp255=)170302ARXLikely benign-1RCV003016929; NMONDO:MONDO:0010632,MedGen:C3463992,OMIM:308350; MONDO:MONDO:0010317,MedGen:C0796244,OMIM:300419, Orphanet:777X2503134725031347-
NM_139058.3(ARX):c.702_764del (p.Glu234_Asp254del)170302ARXUncertain significance1556055511RCV000650179; NMONDO:MONDO:0010632,MedGen:C3463992,OMIM:308350; MONDO:MONDO:0010317,MedGen:C0796244,OMIM:300419, Orphanet:777X2503134825031410X:g.25031348_25031410delClinGen:CA658799627C3463992 308350 Epileptic encephalopathy, early infantile, 1;
NM_139058.3(ARX):c.756G>C (p.Leu252=)170302ARXLikely benign-1RCV002944073; NMONDO:MONDO:0010632,MedGen:C3463992,OMIM:308350; MONDO:MONDO:0010317,MedGen:C0796244,OMIM:300419, Orphanet:777X2503135625031356-
NM_139058.3(ARX):c.747G>A (p.Glu249=)170302ARXConflicting interpretations of pathogenicity797045305RCV000195280|RCV001425507; NMedGen:CN169374|MONDO:MONDO:0010632,MedGen:C3463992,OMIM:308350; MONDO:MONDO:0010317,MedGen:C0796244,OMIM:300419, Orphanet:777X2503136525031365NC_000023.10:g.25031365C>TClinGen:CA209987CN169374 not specified;
NM_139058.3(ARX):c.739G>C (p.Asp247His)170302ARXConflicting interpretations of pathogenicity765259012RCV001593824|RCV001866194; NMedGen:C3661900|MONDO:MONDO:0010317,MedGen:C0796244,OMIM:300419, Orphanet:777; MONDO:MONDO:0010632,MedGen:C3463992,OMIM:308350X250313732503137325031373-
NM_139058.3(ARX):c.738C>T (p.Asp246=)170302ARXBenign750465338RCV002092788; NMONDO:MONDO:0010632,MedGen:C3463992,OMIM:308350; MONDO:MONDO:0010317,MedGen:C0796244,OMIM:300419, Orphanet:777X250313742503137425031374-
NM_139058.3(ARX):c.731T>C (p.Leu244Pro)170302ARXUncertain significance-1RCV002962887; NMONDO:MONDO:0010632,MedGen:C3463992,OMIM:308350; MONDO:MONDO:0010317,MedGen:C0796244,OMIM:300419, Orphanet:777X2503138125031381NC_000023.10:g.25031381A>G-
NM_139058.3(ARX):c.729G>A (p.Leu243=)170302ARXLikely benign-1RCV003066008; NMONDO:MONDO:0010632,MedGen:C3463992,OMIM:308350; MONDO:MONDO:0010317,MedGen:C0796244,OMIM:300419, Orphanet:777X2503138325031383-
NM_139058.3(ARX):c.714C>G (p.Asp238Glu)170302ARXUncertain significance2048710190RCV001217722; NMONDO:MONDO:0010317,MedGen:C0796244,OMIM:300419, Orphanet:777; MONDO:MONDO:0010632,MedGen:C3463992,OMIM:308350X2503139825031398X:g.25031398G>C-
NM_139058.3(ARX):c.714C>T (p.Asp238=)170302ARXLikely benign-1RCV002894674; NMONDO:MONDO:0010632,MedGen:C3463992,OMIM:308350; MONDO:MONDO:0010317,MedGen:C0796244,OMIM:300419, Orphanet:777X2503139825031398-
NM_139058.3(ARX):c.711G>A (p.Glu237=)170302ARXLikely benign-1RCV002918538; NMONDO:MONDO:0010632,MedGen:C3463992,OMIM:308350; MONDO:MONDO:0010317,MedGen:C0796244,OMIM:300419, Orphanet:777X2503140125031401-
NM_139058.3(ARX):c.708T>C (p.Asp236=)170302ARXLikely benign763458576RCV000609453|RCV000650181; NMedGen:CN169374|MONDO:MONDO:0010632,MedGen:C3463992,OMIM:308350; MONDO:MONDO:0010317,MedGen:C0796244,OMIM:300419, Orphanet:777X2503140425031404X:g.25031404A>GClinGen:CA10373886C3463992 308350 Epileptic encephalopathy, early infantile, 1;
NM_139058.3(ARX):c.706G>C (p.Asp236His)170302ARXUncertain significance1291778310RCV001894584; NMONDO:MONDO:0010317,MedGen:C0796244,OMIM:300419, Orphanet:777; MONDO:MONDO:0010632,MedGen:C3463992,OMIM:308350X250314062503140625031406-
NM_139058.3(ARX):c.699C>T (p.Asp233=)170302ARXLikely benign1277580936RCV002117618; NMONDO:MONDO:0010632,MedGen:C3463992,OMIM:308350; MONDO:MONDO:0010317,MedGen:C0796244,OMIM:300419, Orphanet:777X250314132503141325031413-
NM_139058.3(ARX):c.694G>A (p.Glu232Lys)170302ARXUncertain significance1026478061RCV001362413; NMONDO:MONDO:0010632,MedGen:C3463992,OMIM:308350; MONDO:MONDO:0010317,MedGen:C0796244,OMIM:300419, Orphanet:777X250314182503141825031418-
NM_139058.3(ARX):c.681G>C (p.Glu227Asp)170302ARXUncertain significance887974166RCV000441157|RCV002522398; NMedGen:CN517202|MONDO:MONDO:0010632,MedGen:C3463992,OMIM:308350; MONDO:MONDO:0010317,MedGen:C0796244,OMIM:300419, Orphanet:777X2503143125031431X:g.25031431C>GClinGen:CA16609170CN169374 not specified;
NM_139058.3(ARX):c.678C>T (p.Asp226=)170302ARXLikely benign764730866RCV000525572; NMONDO:MONDO:0010317,MedGen:C0796244,OMIM:300419, Orphanet:777; MONDO:MONDO:0010632,MedGen:C3463992,OMIM:308350X2503143425031434NC_000023.10:g.25031434G>AClinGen:CA515947780C3463992 308350 Epileptic encephalopathy, early infantile, 1;
NM_139058.3(ARX):c.678C>G (p.Asp226Glu)170302ARXUncertain significance764730866RCV001366251; NMONDO:MONDO:0010632,MedGen:C3463992,OMIM:308350; MONDO:MONDO:0010317,MedGen:C0796244,OMIM:300419, Orphanet:777X250314342503143425031434-
NM_139058.3(ARX):c.674A>T (p.Asp225Val)170302ARXUncertain significance1057521690RCV000430378|RCV001861535; NMedGen:CN517202|MONDO:MONDO:0010632,MedGen:C3463992,OMIM:308350; MONDO:MONDO:0010317,MedGen:C0796244,OMIM:300419, Orphanet:777X2503143825031438X:g.25031438T>AClinGen:CA16608411CN169374 not specified;
NM_139058.3(ARX):c.659GCACCG[3] (p.220GT[3])170302ARXUncertain significance876661147RCV000216390|RCV001307414; NMedGen:CN517202|MONDO:MONDO:0010317,MedGen:C0796244,OMIM:300419, Orphanet:777; MONDO:MONDO:0010632,MedGen:C3463992,OMIM:308350X2503144125031442X:g.25031441_25031442insCGGTGCClinGen:CA10577657CN169374 not specified;
NM_139058.3(ARX):c.669C>A (p.Thr223=)170302ARXLikely benign1473823603RCV001402895; NMONDO:MONDO:0010632,MedGen:C3463992,OMIM:308350; MONDO:MONDO:0010317,MedGen:C0796244,OMIM:300419, Orphanet:777X2503144325031443X:g.25031443G>T-
NM_139058.3(ARX):c.664G>C (p.Gly222Arg)170302ARXLikely benign1183516776RCV001492544; NMONDO:MONDO:0010632,MedGen:C3463992,OMIM:308350; MONDO:MONDO:0010317,MedGen:C0796244,OMIM:300419, Orphanet:777X2503144825031448X:g.25031448C>G-
NM_139058.3(ARX):c.664G>A (p.Gly222Ser)170302ARXUncertain significance1183516776RCV001348892; NMONDO:MONDO:0010632,MedGen:C3463992,OMIM:308350; MONDO:MONDO:0010317,MedGen:C0796244,OMIM:300419, Orphanet:777X250314482503144825031448-
NM_139058.3(ARX):c.663C>T (p.Thr221=)170302ARXBenign/Likely benign1006404746RCV000939446|RCV001712267; NMONDO:MONDO:0010632,MedGen:C3463992,OMIM:308350; MONDO:MONDO:0010317,MedGen:C0796244,OMIM:300419, Orphanet:777|MedGen:C3661900X2503144925031449X:g.25031449G>AClinGen:CA16608870CN169374 not specified;
NM_139058.3(ARX):c.663C>G (p.Thr221=)170302ARXLikely benign1006404746RCV000650180|RCV000842158; NMONDO:MONDO:0010632,MedGen:C3463992,OMIM:308350; MONDO:MONDO:0010317,MedGen:C0796244,OMIM:300419, Orphanet:777|MedGen:CN517202X2503144925031449NC_000023.10:g.25031449G>CClinGen:CA515947837C3463992 308350 Epileptic encephalopathy, early infantile, 1;
NM_139058.3(ARX):c.662C>T (p.Thr221Ile)170302ARXUncertain significance1017790646RCV001039896; NMONDO:MONDO:0010632,MedGen:C3463992,OMIM:308350; MONDO:MONDO:0010317,MedGen:C0796244,OMIM:300419, Orphanet:777X2503145025031450X:g.25031450G>A-
NM_139058.3(ARX):c.659G>A (p.Gly220Asp)170302ARXUncertain significance-1RCV002602382; NMONDO:MONDO:0010317,MedGen:C0796244,OMIM:300419, Orphanet:777; MONDO:MONDO:0010632,MedGen:C3463992,OMIM:308350X2503145325031453NC_000023.10:g.25031453C>T-
NM_139058.3(ARX):c.657T>C (p.Gly219=)170302ARXConflicting interpretations of pathogenicity755317735RCV000731965|RCV002067127; NMedGen:C3661900|MONDO:MONDO:0010632,MedGen:C3463992,OMIM:308350; MONDO:MONDO:0010317,MedGen:C0796244,OMIM:300419, Orphanet:777X2503145525031455NC_000023.10:g.25031455A>G-
NM_139058.3(ARX):c.651G>A (p.Ala217=)170302ARXLikely benign587783204RCV001341320; NMONDO:MONDO:0010317,MedGen:C0796244,OMIM:300419, Orphanet:777; MONDO:MONDO:0010632,MedGen:C3463992,OMIM:308350X250314612503146125031461-
NM_139058.3(ARX):c.635_646del (p.Gly212_Pro215del)170302ARXUncertain significance2147323937RCV002027059; NMONDO:MONDO:0010632,MedGen:C3463992,OMIM:308350; MONDO:MONDO:0010317,MedGen:C0796244,OMIM:300419, Orphanet:777X250314662503147725031465-
NM_139058.3(ARX):c.642_645del (p.Pro215fs)170302ARXPathogenic2147323943RCV001940114; NMONDO:MONDO:0010317,MedGen:C0796244,OMIM:300419, Orphanet:777; MONDO:MONDO:0010632,MedGen:C3463992,OMIM:308350X250314672503147025031466-
NM_139058.3(ARX):c.644C>A (p.Pro215Gln)170302ARXUncertain significance964935114RCV000444412|RCV002521693; NMedGen:CN517202|MONDO:MONDO:0010632,MedGen:C3463992,OMIM:308350; MONDO:MONDO:0010317,MedGen:C0796244,OMIM:300419, Orphanet:777X2503146825031468X:g.25031468G>TClinGen:CA16608871CN169374 not specified;
NM_139058.3(ARX):c.644C>T (p.Pro215Leu)170302ARXUncertain significance964935114RCV001981663; NMONDO:MONDO:0010632,MedGen:C3463992,OMIM:308350; MONDO:MONDO:0010317,MedGen:C0796244,OMIM:300419, Orphanet:777X250314682503146825031468-
NM_139058.3(ARX):c.642C>A (p.Ala214=)170302ARXLikely benign997439358RCV000650191|RCV002360639|RCV003437375; NMONDO:MONDO:0010317,MedGen:C0796244,OMIM:300419, Orphanet:777; MONDO:MONDO:0010632,MedGen:C3463992,OMIM:308350|MeSH:D030342,MedGen:C0950123|MedGen:C3661900X2503147025031470NC_000023.10:g.25031470G>TClinGen:CA327733051C3463992 308350 Epileptic encephalopathy, early infantile, 1;
NM_139058.3(ARX):c.639C>T (p.Ser213=)170302ARXLikely benign2048710797RCV001421868; NMONDO:MONDO:0010632,MedGen:C3463992,OMIM:308350; MONDO:MONDO:0010317,MedGen:C0796244,OMIM:300419, Orphanet:777X250314732503147325031473-
NM_139058.3(ARX):c.625_636dup (p.Gly212_Ser213insGlyGlyProGly)170302ARXUncertain significance-1RCV002681371; NMONDO:MONDO:0010317,MedGen:C0796244,OMIM:300419, Orphanet:777; MONDO:MONDO:0010632,MedGen:C3463992,OMIM:308350X2503147525031476NC_000023.10:g.25031477_25031488dup-
NM_139058.3(ARX):c.633G>A (p.Pro211=)170302ARXLikely benign-1RCV002580786; NMONDO:MONDO:0010317,MedGen:C0796244,OMIM:300419, Orphanet:777; MONDO:MONDO:0010632,MedGen:C3463992,OMIM:308350X2503147925031479-
NM_139058.3(ARX):c.632C>G (p.Pro211Arg)170302ARXUncertain significance-1RCV002903595; NMONDO:MONDO:0010632,MedGen:C3463992,OMIM:308350; MONDO:MONDO:0010317,MedGen:C0796244,OMIM:300419, Orphanet:777X2503148025031480NC_000023.10:g.25031480G>C-
NM_139058.3(ARX):c.629G>C (p.Gly210Ala)170302ARXUncertain significance752323898RCV000730840|RCV001227161; NMedGen:CN517202|MONDO:MONDO:0010632,MedGen:C3463992,OMIM:308350; MONDO:MONDO:0010317,MedGen:C0796244,OMIM:300419, Orphanet:777X2503148325031483NC_000023.10:g.25031483C>G-
NM_139058.3(ARX):c.629G>T (p.Gly210Val)170302ARXUncertain significance752323898RCV000821223|RCV001332907; NMONDO:MONDO:0010632,MedGen:C3463992,OMIM:308350; MONDO:MONDO:0010317,MedGen:C0796244,OMIM:300419, Orphanet:777|MONDO:MONDO:0010317,MedGen:C0796244,OMIM:300419, Orphanet:777X2503148325031483X:g.25031483C>A-
NM_139058.3(ARX):c.625G>C (p.Gly209Arg)170302ARXUncertain significance587783203RCV000145059|RCV000428584|RCV001237911; NMedGen:CN221281|MedGen:C3661900|MONDO:MONDO:0010632,MedGen:C3463992,OMIM:308350; MONDO:MONDO:0010317,MedGen:C0796244,OMIM:300419, Orphanet:777X2503148725031487X:g.25031487C>GClinGen:CA171158CN221281 epileptic encephalopathy, early infanitle, 1;
NM_139058.3(ARX):c.625G>A (p.Gly209Ser)170302ARXConflicting interpretations of pathogenicity587783203RCV001204695|RCV001531139; NMONDO:MONDO:0010317,MedGen:C0796244,OMIM:300419, Orphanet:777; MONDO:MONDO:0010632,MedGen:C3463992,OMIM:308350|MedGen:C3661900X2503148725031487X:g.25031487C>T-
NM_139058.3(ARX):c.619G>T (p.Val207Leu)170302ARXUncertain significance1276718018RCV001991033; NMONDO:MONDO:0010632,MedGen:C3463992,OMIM:308350; MONDO:MONDO:0010317,MedGen:C0796244,OMIM:300419, Orphanet:777X250314932503149325031493-
NM_139058.3(ARX):c.615C>T (p.Leu205=)170302ARXLikely benign-1RCV002633891; NMONDO:MONDO:0010632,MedGen:C3463992,OMIM:308350; MONDO:MONDO:0010317,MedGen:C0796244,OMIM:300419, Orphanet:777X2503149725031497-
NM_139058.3(ARX):c.613C>T (p.Leu205Phe)170302ARXConflicting interpretations of pathogenicity797045304RCV000193867|RCV001852546; NMedGen:CN169374|MONDO:MONDO:0010632,MedGen:C3463992,OMIM:308350; MONDO:MONDO:0010317,MedGen:C0796244,OMIM:300419, Orphanet:777X2503149925031499NC_000023.10:g.25031499G>AClinGen:CA207632CN169374 not specified;
NM_139058.3(ARX):c.611G>A (p.Arg204His)170302ARXConflicting interpretations of pathogenicity755745002RCV000623588|RCV000981667; NMeSH:D030342,MedGen:C0950123|MONDO:MONDO:0010632,MedGen:C3463992,OMIM:308350; MONDO:MONDO:0010317,MedGen:C0796244,OMIM:300419, Orphanet:777X2503150125031501NC_000023.10:g.25031501C>TClinGen:CA10373892C0950123 Inborn genetic diseases;
NM_139058.3(ARX):c.611G>T (p.Arg204Leu)170302ARXUncertain significance755745002RCV000822062|RCV001251911; NMONDO:MONDO:0010317,MedGen:C0796244,OMIM:300419, Orphanet:777; MONDO:MONDO:0010632,MedGen:C3463992,OMIM:308350|Human Phenotype Ontology:HP:0000730,Human Phenotype Ontology:HP:0001249,Human Phenotype Ontology:HP:0001267,Human Phenotype Ontology:HP:0001286,X2503150125031501X:g.25031501C>A-
NM_139058.3(ARX):c.611G>C (p.Arg204Pro)170302ARXUncertain significance-1RCV003445366; NMONDO:MONDO:0010632,MedGen:C3463992,OMIM:308350X2503150125031501-
NM_139058.3(ARX):c.610C>A (p.Arg204Ser)170302ARXUncertain significance777162737RCV002018485; NMONDO:MONDO:0010632,MedGen:C3463992,OMIM:308350; MONDO:MONDO:0010317,MedGen:C0796244,OMIM:300419, Orphanet:777X250315022503150225031502-
NM_139058.3(ARX):c.603G>A (p.Pro201=)170302ARXLikely benign1271214509RCV002016617; NMONDO:MONDO:0010632,MedGen:C3463992,OMIM:308350; MONDO:MONDO:0010317,MedGen:C0796244,OMIM:300419, Orphanet:777X250315092503150925031509-
NM_139058.3(ARX):c.602C>A (p.Pro201Gln)170302ARXLikely benign1484238484RCV000650190; NMONDO:MONDO:0010632,MedGen:C3463992,OMIM:308350; MONDO:MONDO:0010317,MedGen:C0796244,OMIM:300419, Orphanet:777X2503151025031510NC_000023.10:g.25031510G>TClinGen:CA412612826C3463992 308350 Epileptic encephalopathy, early infantile, 1;
NM_139058.3(ARX):c.596C>G (p.Thr199Arg)170302ARXConflicting interpretations of pathogenicity1268774120RCV001360877|RCV001573191|RCV002252177; NMONDO:MONDO:0010317,MedGen:C0796244,OMIM:300419, Orphanet:777; MONDO:MONDO:0010632,MedGen:C3463992,OMIM:308350|MedGen:C3661900|X2503151625031516X:g.25031516G>CClinGen:CA412612841CN169374 not specified;
NM_139058.3(ARX):c.596C>A (p.Thr199Lys)170302ARXUncertain significance-1RCV002636957|RCV003140122; NMONDO:MONDO:0010317,MedGen:C0796244,OMIM:300419, Orphanet:777; MONDO:MONDO:0010632,MedGen:C3463992,OMIM:308350|MedGen:CN517202X2503151625031516NC_000023.10:g.25031516G>T-
NM_139058.3(ARX):c.592G>A (p.Val198Ile)170302ARXUncertain significance966816905RCV001867320|RCV003438881; NMONDO:MONDO:0010317,MedGen:C0796244,OMIM:300419, Orphanet:777; MONDO:MONDO:0010632,MedGen:C3463992,OMIM:308350|MedGen:C3661900X250315202503152025031520-
NM_139058.3(ARX):c.591C>T (p.Gly197=)170302ARXLikely benign1200326478RCV001576553|RCV002072266; NMedGen:C3661900|MONDO:MONDO:0010317,MedGen:C0796244,OMIM:300419, Orphanet:777; MONDO:MONDO:0010632,MedGen:C3463992,OMIM:308350X250315212503152125031521-
NM_139058.3(ARX):c.590dup (p.Val198fs)170302ARXPathogenic-1RCV002903103; NMONDO:MONDO:0010632,MedGen:C3463992,OMIM:308350; MONDO:MONDO:0010317,MedGen:C0796244,OMIM:300419, Orphanet:777X2503152125031522NC_000023.10:g.25031527dup-
NM_139058.3(ARX):c.586G>C (p.Gly196Arg)170302ARXUncertain significance1287749285RCV000817345|RCV001265952; NMONDO:MONDO:0010632,MedGen:C3463992,OMIM:308350; MONDO:MONDO:0010317,MedGen:C0796244,OMIM:300419, Orphanet:777|MeSH:D030342,MedGen:C0950123X2503152625031526X:g.25031526C>G-
NM_139058.3(ARX):c.579C>T (p.Gly193=)170302ARXLikely benign-1RCV002572945; NMONDO:MONDO:0010317,MedGen:C0796244,OMIM:300419, Orphanet:777; MONDO:MONDO:0010632,MedGen:C3463992,OMIM:308350X2503153325031533-
NM_139058.3(ARX):c.578G>C (p.Gly193Ala)170302ARXUncertain significance2147324028RCV002246981|RCV003094048; NMedGen:CN169374|MONDO:MONDO:0010632,MedGen:C3463992,OMIM:308350; MONDO:MONDO:0010317,MedGen:C0796244,OMIM:300419, Orphanet:777X250315342503153425031534-
NM_139058.3(ARX):c.563C>G (p.Ala188Gly)170302ARXUncertain significance1441240819RCV002015965; NMONDO:MONDO:0010632,MedGen:C3463992,OMIM:308350; MONDO:MONDO:0010317,MedGen:C0796244,OMIM:300419, Orphanet:777X250315492503154925031549-
NM_139058.3(ARX):c.558G>T (p.Pro186=)170302ARXLikely benign748764628RCV000441242|RCV000551825|RCV001702460; NMedGen:CN169374|MONDO:MONDO:0010317,MedGen:C0796244,OMIM:300419, Orphanet:777; MONDO:MONDO:0010632,MedGen:C3463992,OMIM:308350|MedGen:C3661900X2503155425031554X:g.25031554C>AClinGen:CA10373894C3463992 308350 Epileptic encephalopathy, early infantile, 1;
NM_139058.3(ARX):c.554C>A (p.Pro185Gln)170302ARXConflicting interpretations of pathogenicity925128416RCV000821192|RCV001585760|RCV002345895; NMONDO:MONDO:0010632,MedGen:C3463992,OMIM:308350; MONDO:MONDO:0010317,MedGen:C0796244,OMIM:300419, Orphanet:777|MedGen:CN517202|MeSH:D030342,MedGen:C0950123X2503155825031558X:g.25031558G>T-
NM_139058.3(ARX):c.553C>T (p.Pro185Ser)170302ARXUncertain significance2048711460RCV001048046; NMONDO:MONDO:0010632,MedGen:C3463992,OMIM:308350; MONDO:MONDO:0010317,MedGen:C0796244,OMIM:300419, Orphanet:777X2503155925031559X:g.25031559G>A-
NM_139058.3(ARX):c.552G>C (p.Pro184=)170302ARXLikely benign2147324063RCV002147590; NMONDO:MONDO:0010632,MedGen:C3463992,OMIM:308350; MONDO:MONDO:0010317,MedGen:C0796244,OMIM:300419, Orphanet:777X250315602503156025031560-
NM_139058.3(ARX):c.543C>T (p.Pro181=)170302ARXBenign/Likely benign587780854RCV000123690|RCV002055419; NMedGen:CN169374|MONDO:MONDO:0010317,MedGen:C0796244,OMIM:300419, Orphanet:777; MONDO:MONDO:0010632,MedGen:C3463992,OMIM:308350X2503156925031569X:g.25031569G>AClinGen:CA289511CN169374 not specified;
NM_139058.3(ARX):c.541C>A (p.Pro181Thr)170302ARXUncertain significance2147324074RCV001970323; NMONDO:MONDO:0010632,MedGen:C3463992,OMIM:308350; MONDO:MONDO:0010317,MedGen:C0796244,OMIM:300419, Orphanet:777X250315712503157125031571-
NM_139058.3(ARX):c.541C>T (p.Pro181Ser)170302ARXUncertain significance-1RCV002791934; NMONDO:MONDO:0010317,MedGen:C0796244,OMIM:300419, Orphanet:777; MONDO:MONDO:0010632,MedGen:C3463992,OMIM:308350X2503157125031571NC_000023.10:g.25031571G>A-
NM_139058.3(ARX):c.540G>A (p.Ala180=)170302ARXLikely benign794727309RCV001493763; NMONDO:MONDO:0010632,MedGen:C3463992,OMIM:308350; MONDO:MONDO:0010317,MedGen:C0796244,OMIM:300419, Orphanet:777X250315722503157225031572-
NM_139058.3(ARX):c.535G>C (p.Gly179Arg)170302ARXUncertain significance2048711615RCV001306673; NMONDO:MONDO:0010317,MedGen:C0796244,OMIM:300419, Orphanet:777; MONDO:MONDO:0010632,MedGen:C3463992,OMIM:308350X250315772503157725031577-
NM_139058.3(ARX):c.528C>T (p.Arg176=)170302ARXLikely benign-1RCV002615375; NMONDO:MONDO:0010317,MedGen:C0796244,OMIM:300419, Orphanet:777; MONDO:MONDO:0010632,MedGen:C3463992,OMIM:308350X2503158425031584-
NM_139058.3(ARX):c.516C>T (p.Ser172=)170302ARXUncertain significance2048711722RCV001344467; NMONDO:MONDO:0010317,MedGen:C0796244,OMIM:300419, Orphanet:777; MONDO:MONDO:0010632,MedGen:C3463992,OMIM:308350X250315962503159625031596-
NM_139058.3(ARX):c.510C>T (p.Ser170=)170302ARXLikely benign2147324103RCV002199271; NMONDO:MONDO:0010632,MedGen:C3463992,OMIM:308350; MONDO:MONDO:0010317,MedGen:C0796244,OMIM:300419, Orphanet:777X250316022503160225031602-
NM_139058.3(ARX):c.509G>A (p.Ser170Asn)170302ARXUncertain significance1556056051RCV000536507; NMONDO:MONDO:0010317,MedGen:C0796244,OMIM:300419, Orphanet:777; MONDO:MONDO:0010632,MedGen:C3463992,OMIM:308350X2503160325031603X:g.25031603C>TClinGen:CA412613026C3463992 308350 Epileptic encephalopathy, early infantile, 1;
NM_139058.3(ARX):c.501G>A (p.Val167=)170302ARXLikely benign2048711777RCV002107802; NMONDO:MONDO:0010632,MedGen:C3463992,OMIM:308350; MONDO:MONDO:0010317,MedGen:C0796244,OMIM:300419, Orphanet:777X250316112503161125031611-
NM_139058.3(ARX):c.474_475delinsAT (p.Leu159Phe)170302ARXUncertain significance1569395505RCV000685411; NMONDO:MONDO:0010632,MedGen:C3463992,OMIM:308350; MONDO:MONDO:0010317,MedGen:C0796244,OMIM:300419, Orphanet:777X2503163725031638NC_000023.10:g.25031637_25031638delinsAT-C3463992 308350 Epileptic encephalopathy, early infantile, 1;
NM_139058.3(ARX):c.448GCCGCGGCC[3] (p.Ala153_Ala155dup)170302ARXUncertain significance797045302RCV001202324; NMONDO:MONDO:0010317,MedGen:C0796244,OMIM:300419, Orphanet:777; MONDO:MONDO:0010632,MedGen:C3463992,OMIM:308350X2503164625031647X:g.25031646_25031647insGGCCGCGGC-
NM_139058.3(ARX):c.441_464dup (p.Ala148_Ala155dup)170302ARXPathogenic398124510RCV000082605|RCV000192670|RCV000813194; NMedGen:CN517202|MONDO:MONDO:0010268,MedGen:C1846171,OMIM:300215, Orphanet:452|MONDO:MONDO:0010632,MedGen:C3463992,OMIM:308350; MONDO:MONDO:0010317,MedGen:C0796244,OMIM:300419, Orphanet:777X2503164725031648NC_000023.10:g.25031660_25031683dupClinGen:CA213322C1846171 300215 Lissencephaly 2, X-linked;
NM_139058.3(ARX):c.451_465del (p.Ala151_Ala155del)170302ARXConflicting interpretations of pathogenicity757588621RCV000722715|RCV001253636|RCV001504893|RCV002317589; NMedGen:C3661900|MONDO:MONDO:0010632,MedGen:C3463992,OMIM:308350|MONDO:MONDO:0010317,MedGen:C0796244,OMIM:300419, Orphanet:777; MONDO:MONDO:0010632,MedGen:C3463992,OMIM:308350|MeSH:D030342,MedGen:C0950123X2503164725031661NC_000023.10:g.25031656_25031670del-
NM_139058.3(ARX):c.433_465del (p.Ala145_Ala155del)170302ARXUncertain significance1251374008RCV001350737; NMONDO:MONDO:0010632,MedGen:C3463992,OMIM:308350; MONDO:MONDO:0010317,MedGen:C0796244,OMIM:300419, Orphanet:777X250316472503167925031646-
NM_139058.3(ARX):c.441_464del (p.Ala148_Ala155del)170302ARXBenign/Likely benign398124510RCV000011954|RCV000082604|RCV000463305|RCV001647067|RCV002316276; NMONDO:MONDO:0010317,MedGen:C0796244,OMIM:300419, Orphanet:777|MedGen:CN169374|MONDO:MONDO:0010632,MedGen:C3463992,OMIM:308350; MONDO:MONDO:0010317,MedGen:C0796244,OMIM:300419, Orphanet:777|MedGen:C3661900|MeSH:D030342,MedGen:C0950123X2503164825031671X:g.25031648_25031671delClinGen:CA149543,OMIM:300382.0018C3463992 308350 Epileptic encephalopathy, early infantile, 1;
NM_139058.3(ARX):c.435_461dup (p.Ala147_Ala155dup)170302ARXPathogenic1556056125RCV000022855; NMONDO:MONDO:0010632,MedGen:C3463992,OMIM:308350X2503165025031651X:g.25031650_25031651insGCGGCGGCCGCGGCCGCGGCTGCCGCGClinGen:CA128798,OMIM:300382.0022C3463992 308350 Epileptic encephalopathy, early infantile, 1;
NM_139058.3(ARX):c.447GGCCGC[3] (p.Ala154_Ala155dup)170302ARXConflicting interpretations of pathogenicity398124512RCV000082606|RCV000696832; NMedGen:CN517202|MONDO:MONDO:0010632,MedGen:C3463992,OMIM:308350; MONDO:MONDO:0010317,MedGen:C0796244,OMIM:300419, Orphanet:777X2503165325031654X:g.25031653_25031654insGCGGCCClinGen:CA224125C3463992 308350 Epileptic encephalopathy, early infantile, 1;
NM_139058.3(ARX):c.426_458dup (p.Gly143_Ala153dup)170302ARXPathogenic1556056154RCV000558205; NMONDO:MONDO:0010317,MedGen:C0796244,OMIM:300419, Orphanet:777; MONDO:MONDO:0010632,MedGen:C3463992,OMIM:308350X2503165325031654X:g.25031653_25031654insGCGGCCGCGGCCGCGGCTGCCGCGGCGGCCCCTClinGen:CA658656855C3463992 308350 Epileptic encephalopathy, early infantile, 1;
NM_139058.3(ARX):c.378_459del (p.Pro127fs)170302ARXPathogenic-1RCV003022177; NMONDO:MONDO:0010632,MedGen:C3463992,OMIM:308350; MONDO:MONDO:0010317,MedGen:C0796244,OMIM:300419, Orphanet:777X2503165325031734NC_000023.10:g.25031655_25031736del-
NM_139058.3(ARX):c.438_458del (p.Ala149_Ala155del)170302ARXLikely benign2048712160RCV001034298; NMONDO:MONDO:0010632,MedGen:C3463992,OMIM:308350; MONDO:MONDO:0010317,MedGen:C0796244,OMIM:300419, Orphanet:777X2503165425031674X:g.25031654_25031674del-
NM_139058.3(ARX):c.447GGCCGC[1] (p.Ala154_Ala155del)170302ARXLikely benign-1RCV002801886; NMONDO:MONDO:0010317,MedGen:C0796244,OMIM:300419, Orphanet:777; MONDO:MONDO:0010632,MedGen:C3463992,OMIM:308350X2503165425031659NC_000023.10:g.25031659CGCGGC[1]-
NM_139058.3(ARX):c.457G>A (p.Ala153Thr)170302ARXLikely benign2048712192RCV001466016; NMONDO:MONDO:0010632,MedGen:C3463992,OMIM:308350; MONDO:MONDO:0010317,MedGen:C0796244,OMIM:300419, Orphanet:777X250316552503165525031655-
NM_139058.3(ARX):c.441_455dup (p.Ala151_Ala155dup)170302ARXUncertain significance750585274RCV001009556|RCV001227606|RCV001766823; NMONDO:MONDO:0010632,MedGen:C3463992,OMIM:308350; MONDO:MONDO:0010317,MedGen:C0796244,OMIM:300419, Orphanet:777; MONDO:MONDO:0010224,MedGen:C0796124,OMIM:300004, Orphanet:2508; MONDO:MONDO:0010654,MedGen:C0796250,OMIM:309510, Orphanet:94083|MONDO:MONDO:0010632X2503165625031657X:g.25031656_25031657insGCCGCGGCCGCGGCT-
NM_139058.3(ARX):c.441_455del (p.Ala151_Ala155del)170302ARXBenign750585274RCV001536811|RCV002071929; NMedGen:C3661900|MONDO:MONDO:0010317,MedGen:C0796244,OMIM:300419, Orphanet:777; MONDO:MONDO:0010632,MedGen:C3463992,OMIM:308350X250316572503167125031656-
NM_139058.3(ARX):c.455C>G (p.Ala152Gly)170302ARXUncertain significance1184388194RCV002038353; NMONDO:MONDO:0010632,MedGen:C3463992,OMIM:308350; MONDO:MONDO:0010317,MedGen:C0796244,OMIM:300419, Orphanet:777X250316572503165725031657-
NM_139058.3(ARX):c.454G>A (p.Ala152Thr)170302ARXUncertain significance587783201RCV000145057|RCV000650175|RCV002514786; NMedGen:CN517202|MONDO:MONDO:0010632,MedGen:C3463992,OMIM:308350; MONDO:MONDO:0010317,MedGen:C0796244,OMIM:300419, Orphanet:777|MeSH:D030342,MedGen:C0950123X2503165825031658X:g.25031658C>TClinGen:CA233287C3463992 308350 Epileptic encephalopathy, early infantile, 1;
NM_139058.3(ARX):c.453G>C (p.Ala151=)170302ARXLikely benign878855205RCV000614240|RCV001391684; NMedGen:CN169374|MONDO:MONDO:0010632,MedGen:C3463992,OMIM:308350; MONDO:MONDO:0010317,MedGen:C0796244,OMIM:300419, Orphanet:777X2503165925031659X:g.25031659C>GClinGen:CA10583941C3463992 308350 Epileptic encephalopathy, early infantile, 1;
NM_139058.3(ARX):c.428_451dup (p.Gly143_Ala150dup)170302ARXConflicting interpretations of pathogenicity387906493RCV000011937|RCV000033212|RCV000487265|RCV000700342|RCV001580167; YMONDO:MONDO:0010632,MedGen:C3463992,OMIM:308350|MONDO:MONDO:0010654,MedGen:C0796250,OMIM:309510, Orphanet:94083|MedGen:CN517202|MONDO:MONDO:0010632,MedGen:C3463992,OMIM:308350; MONDO:MONDO:0010317,MedGen:C0796244,OMIM:300419, Orphanet:777|MONDO:MONDO:00103X2503166025031661X:g.25031660_25031661insCGGCCGCGGCTGCCGCGGCGGCCCClinGen:CA121408,OMIM:300382.0002C3463992 308350 Epileptic encephalopathy, early infantile, 1;
NM_139058.3(ARX):c.452C>T (p.Ala151Val)170302ARXUncertain significance1439646032RCV001899206; NMONDO:MONDO:0010317,MedGen:C0796244,OMIM:300419, Orphanet:777; MONDO:MONDO:0010632,MedGen:C3463992,OMIM:308350X250316602503166025031660-
NM_139058.3(ARX):c.428_451del (p.Gly143_Ala150del)170302ARXBenign/Likely benign387906493RCV001621834|RCV002072935; NMedGen:C3661900|MONDO:MONDO:0010317,MedGen:C0796244,OMIM:300419, Orphanet:777; MONDO:MONDO:0010632,MedGen:C3463992,OMIM:308350X250316612503168425031660-
NM_139058.3(ARX):c.450C>A (p.Ala150=)170302ARXLikely benign1410039382RCV000543512; NMONDO:MONDO:0010317,MedGen:C0796244,OMIM:300419, Orphanet:777; MONDO:MONDO:0010632,MedGen:C3463992,OMIM:308350X2503166225031662NC_000023.10:g.25031662G>TClinGen:CA515947684C3463992 308350 Epileptic encephalopathy, early infantile, 1;
NM_139058.3(ARX):c.426_449dup (p.Gly143_Ala150dup)170302ARXPathogenic/Likely pathogenic1569395541RCV001862086|RCV002318283; NMONDO:MONDO:0010317,MedGen:C0796244,OMIM:300419, Orphanet:777; MONDO:MONDO:0010632,MedGen:C3463992,OMIM:308350|MeSH:D030342,MedGen:C0950123X2503166225031663NC_000023.10:g.25031665_25031688dup-
NM_139058.3(ARX):c.449C>T (p.Ala150Val)170302ARXUncertain significance2048712353RCV001228236; NMONDO:MONDO:0010317,MedGen:C0796244,OMIM:300419, Orphanet:777; MONDO:MONDO:0010632,MedGen:C3463992,OMIM:308350X2503166325031663X:g.25031663G>A-
NM_139058.3(ARX):c.448G>A (p.Ala150Thr)170302ARXUncertain significance-1RCV002601783; NMONDO:MONDO:0010317,MedGen:C0796244,OMIM:300419, Orphanet:777; MONDO:MONDO:0010632,MedGen:C3463992,OMIM:308350X2503166425031664NC_000023.10:g.25031664C>T-
NM_139058.3(ARX):c.447G>C (p.Ala149=)170302ARXConflicting interpretations of pathogenicity745705522RCV000353204|RCV001089020|RCV002328787; NMedGen:C3661900|MONDO:MONDO:0010317,MedGen:C0796244,OMIM:300419, Orphanet:777; MONDO:MONDO:0010632,MedGen:C3463992,OMIM:308350|MeSH:D030342,MedGen:C0950123X2503166525031665X:g.25031665C>GClinGen:CA10373900C3463992 308350 Epileptic encephalopathy, early infantile, 1;
NM_139058.3(ARX):c.441_446dup (p.Ala154_Ala155dup)170302ARXUncertain significance1460450589RCV001929288; NMONDO:MONDO:0010632,MedGen:C3463992,OMIM:308350; MONDO:MONDO:0010317,MedGen:C0796244,OMIM:300419, Orphanet:777X250316652503166625031665-
NM_139058.3(ARX):c.441_446del (p.Ala154_Ala155del)170302ARXLikely benign1460450589RCV001465629; NMONDO:MONDO:0010632,MedGen:C3463992,OMIM:308350; MONDO:MONDO:0010317,MedGen:C0796244,OMIM:300419, Orphanet:777X250316662503167125031665-
NM_139058.3(ARX):c.432_446del (p.Ala151_Ala155del)170302ARXLikely benign2147324216RCV002199743; NMONDO:MONDO:0010632,MedGen:C3463992,OMIM:308350; MONDO:MONDO:0010317,MedGen:C0796244,OMIM:300419, Orphanet:777X250316662503168025031665-
NM_139058.3(ARX):c.443_444insGGCCGC (p.Ala155_Trp156insAlaAla)170302ARXUncertain significance-1RCV002644499; NMONDO:MONDO:0010632,MedGen:C3463992,OMIM:308350; MONDO:MONDO:0010317,MedGen:C0796244,OMIM:300419, Orphanet:777X2503166825031669NC_000023.10:g.25031670_25031671insGGCCGC-
NM_139058.3(ARX):c.441A>G (p.Ala147=)170302ARXConflicting interpretations of pathogenicity797045301RCV000194099|RCV000650185|RCV000720962|RCV001711493; NMedGen:CN169374|MONDO:MONDO:0010317,MedGen:C0796244,OMIM:300419, Orphanet:777; MONDO:MONDO:0010632,MedGen:C3463992,OMIM:308350|MedGen:C2711754|MedGen:C3661900X2503167125031671X:g.25031671T>CClinGen:CA208040C3463992 308350 Epileptic encephalopathy, early infantile, 1;
NM_139058.3(ARX):c.441A>C (p.Ala147=)170302ARXLikely benign797045301RCV000867206|RCV002313482|RCV002512127; NMONDO:MONDO:0010632,MedGen:C3463992,OMIM:308350; MONDO:MONDO:0010317,MedGen:C0796244,OMIM:300419, Orphanet:777|MeSH:D030342,MedGen:C0950123|MedGen:C3661900X2503167125031671NC_000023.10:g.25031671T>G-
NM_139058.3(ARX):c.440C>T (p.Ala147Val)170302ARXLikely benign1048593315RCV001323225; NMONDO:MONDO:0010632,MedGen:C3463992,OMIM:308350; MONDO:MONDO:0010317,MedGen:C0796244,OMIM:300419, Orphanet:777X250316722503167225031672-
NM_139058.3(ARX):c.435C>G (p.Ala145=)170302ARXLikely benign-1RCV003046337; NMONDO:MONDO:0010317,MedGen:C0796244,OMIM:300419, Orphanet:777; MONDO:MONDO:0010632,MedGen:C3463992,OMIM:308350X2503167725031677-
NM_139058.3(ARX):c.433G>T (p.Ala145Ser)170302ARXConflicting interpretations of pathogenicity1438576250RCV002114920|RCV002254363; NMONDO:MONDO:0010632,MedGen:C3463992,OMIM:308350; MONDO:MONDO:0010317,MedGen:C0796244,OMIM:300419, Orphanet:777|MONDO:MONDO:0010632,MedGen:C3463992,OMIM:308350X250316792503167925031679-
NM_139058.3(ARX):c.432C>T (p.Ala144=)170302ARXLikely benign-1RCV003021869; NMONDO:MONDO:0010632,MedGen:C3463992,OMIM:308350; MONDO:MONDO:0010317,MedGen:C0796244,OMIM:300419, Orphanet:777X2503168025031680-
NM_139058.3(ARX):c.430G>T (p.Ala144Ser)170302ARXUncertain significance1253162910RCV001891312|RCV002281198; NMONDO:MONDO:0010632,MedGen:C3463992,OMIM:308350; MONDO:MONDO:0010317,MedGen:C0796244,OMIM:300419, Orphanet:777|MedGen:C3661900X250316822503168225031682-
NM_139058.3(ARX):c.428G>C (p.Gly143Ala)170302ARXUncertain significance2048712574RCV001220243; NMONDO:MONDO:0010317,MedGen:C0796244,OMIM:300419, Orphanet:777; MONDO:MONDO:0010632,MedGen:C3463992,OMIM:308350X2503168425031684X:g.25031684C>G-
NM_139058.3(ARX):c.426A>T (p.Ala142=)170302ARXLikely benign-1RCV003084040; NMONDO:MONDO:0010317,MedGen:C0796244,OMIM:300419, Orphanet:777; MONDO:MONDO:0010632,MedGen:C3463992,OMIM:308350X2503168625031686-
NM_139058.3(ARX):c.421G>A (p.Gly141Ser)170302ARXConflicting interpretations of pathogenicity2048712606RCV001910354|RCV002331453; NMONDO:MONDO:0010632,MedGen:C3463992,OMIM:308350; MONDO:MONDO:0010317,MedGen:C0796244,OMIM:300419, Orphanet:777|MeSH:D030342,MedGen:C0950123X250316912503169125031691-
NM_139058.3(ARX):c.420C>T (p.Asp140=)170302ARXLikely benign2147324243RCV001442657; NMONDO:MONDO:0010632,MedGen:C3463992,OMIM:308350; MONDO:MONDO:0010317,MedGen:C0796244,OMIM:300419, Orphanet:777X250316922503169225031692-
NM_139058.3(ARX):c.418G>T (p.Asp140Tyr)170302ARXUncertain significance888222904RCV000817657; NMONDO:MONDO:0010632,MedGen:C3463992,OMIM:308350; MONDO:MONDO:0010317,MedGen:C0796244,OMIM:300419, Orphanet:777X2503169425031694X:g.25031694C>A-
NM_139058.3(ARX):c.415C>A (p.Pro139Thr)170302ARXUncertain significance2048712673RCV001947920; NMONDO:MONDO:0010317,MedGen:C0796244,OMIM:300419, Orphanet:777; MONDO:MONDO:0010632,MedGen:C3463992,OMIM:308350X250316972503169725031697-
NM_139058.3(ARX):c.411A>C (p.Glu137Asp)170302ARXUncertain significance1601948681RCV000809484; NMONDO:MONDO:0010632,MedGen:C3463992,OMIM:308350; MONDO:MONDO:0010317,MedGen:C0796244,OMIM:300419, Orphanet:777X2503170125031701X:g.25031701T>G-
NM_139058.3(ARX):c.404C>T (p.Pro135Leu)170302ARXUncertain significance1569395563RCV002316892|RCV002533044; NMeSH:D030342,MedGen:C0950123|MONDO:MONDO:0010317,MedGen:C0796244,OMIM:300419, Orphanet:777; MONDO:MONDO:0010632,MedGen:C3463992,OMIM:308350X2503170825031708NC_000023.10:g.25031708G>A-
NM_139058.3(ARX):c.399G>A (p.Ala133=)170302ARXLikely benign2147324267RCV002168687; NMONDO:MONDO:0010632,MedGen:C3463992,OMIM:308350; MONDO:MONDO:0010317,MedGen:C0796244,OMIM:300419, Orphanet:777X250317132503171325031713-
NM_139058.3(ARX):c.398C>T (p.Ala133Val)170302ARXUncertain significance1601948689RCV001235081; NMONDO:MONDO:0010317,MedGen:C0796244,OMIM:300419, Orphanet:777; MONDO:MONDO:0010632,MedGen:C3463992,OMIM:308350X2503171425031714X:g.25031714G>A-
NM_139058.3(ARX):c.357_391del (p.Gly120fs)170302ARXPathogenic-1RCV002801305; NMONDO:MONDO:0010317,MedGen:C0796244,OMIM:300419, Orphanet:777; MONDO:MONDO:0010632,MedGen:C3463992,OMIM:308350X2503172125031755NC_000023.10:g.25031723_25031757del-
NM_139058.3(ARX):c.390G>T (p.Pro130=)170302ARXLikely benign2147324273RCV001456224; NMONDO:MONDO:0010632,MedGen:C3463992,OMIM:308350; MONDO:MONDO:0010317,MedGen:C0796244,OMIM:300419, Orphanet:777X250317222503172225031722-
NM_139058.3(ARX):c.389C>T (p.Pro130Leu)170302ARXUncertain significance1064795129RCV002017843; NMONDO:MONDO:0010632,MedGen:C3463992,OMIM:308350; MONDO:MONDO:0010317,MedGen:C0796244,OMIM:300419, Orphanet:777X250317232503172325031723-
NM_139058.3(ARX):c.373G>A (p.Ala125Thr)170302ARXUncertain significance1349449662RCV001891511|RCV003136271; NMONDO:MONDO:0010632,MedGen:C3463992,OMIM:308350; MONDO:MONDO:0010317,MedGen:C0796244,OMIM:300419, Orphanet:777|MedGen:C3661900X250317392503173925031739-
NM_139058.3(ARX):c.372G>A (p.Glu124=)170302ARXLikely benign1006764242RCV000867561; NMONDO:MONDO:0010317,MedGen:C0796244,OMIM:300419, Orphanet:777; MONDO:MONDO:0010632,MedGen:C3463992,OMIM:308350X2503174025031740X:g.25031740C>T-
NM_139058.3(ARX):c.370G>T (p.Glu124Ter)170302ARXPathogenic2147324296RCV002267683; NMONDO:MONDO:0010632,MedGen:C3463992,OMIM:308350X250317422503174225031742-
NM_139058.3(ARX):c.365G>A (p.Arg122His)170302ARXUncertain significance1335963054RCV001932382|RCV002074429; NMONDO:MONDO:0010317,MedGen:C0796244,OMIM:300419, Orphanet:777; MONDO:MONDO:0010632,MedGen:C3463992,OMIM:308350|MedGen:C3661900X250317472503174725031747-
NM_139058.3(ARX):c.361C>A (p.Pro121Thr)170302ARXBenign1308958274RCV002165933; NMONDO:MONDO:0010632,MedGen:C3463992,OMIM:308350; MONDO:MONDO:0010317,MedGen:C0796244,OMIM:300419, Orphanet:777X250317512503175125031751-
NM_139058.3(ARX):c.345CACGGC[3] (p.Ala119_Gly120insThrAla)170302ARXUncertain significance-1RCV002814889; NMONDO:MONDO:0010317,MedGen:C0796244,OMIM:300419, Orphanet:777; MONDO:MONDO:0010632,MedGen:C3463992,OMIM:308350X2503175525031756NC_000023.10:g.25031758CGTGGC[3]-
NM_139058.3(ARX):c.351C>A (p.Ala117=)170302ARXLikely benign1313243538RCV000650184; NMONDO:MONDO:0010317,MedGen:C0796244,OMIM:300419, Orphanet:777; MONDO:MONDO:0010632,MedGen:C3463992,OMIM:308350X2503176125031761NC_000023.10:g.25031761G>TClinGen:CA515947939C3463992 308350 Epileptic encephalopathy, early infantile, 1;
NM_139058.3(ARX):c.348G>A (p.Thr116=)170302ARXLikely benign1601948719RCV001412684; NMONDO:MONDO:0010632,MedGen:C3463992,OMIM:308350; MONDO:MONDO:0010317,MedGen:C0796244,OMIM:300419, Orphanet:777X2503176425031764X:g.25031764C>T-
NM_139058.3(ARX):c.347C>T (p.Thr116Met)170302ARXUncertain significance-1RCV002304434; NMONDO:MONDO:0010317,MedGen:C0796244,OMIM:300419, Orphanet:777; MONDO:MONDO:0010632,MedGen:C3463992,OMIM:308350X250317652503176525031765-
NM_139058.3(ARX):c.346A>G (p.Thr116Ala)170302ARXUncertain significance1449728469RCV001341990; NMONDO:MONDO:0010317,MedGen:C0796244,OMIM:300419, Orphanet:777; MONDO:MONDO:0010632,MedGen:C3463992,OMIM:308350X250317662503176625031766-
NM_139058.3(ARX):c.345_346delinsGG (p.Thr116Ala)170302ARXUncertain significance2147324326RCV002020074; NMONDO:MONDO:0010632,MedGen:C3463992,OMIM:308350; MONDO:MONDO:0010317,MedGen:C0796244,OMIM:300419, Orphanet:777X250317662503176725031766-
NM_139058.3(ARX):c.345C>G (p.Ala115=)170302ARXLikely benign2147324328RCV001439360; NMONDO:MONDO:0010317,MedGen:C0796244,OMIM:300419, Orphanet:777; MONDO:MONDO:0010632,MedGen:C3463992,OMIM:308350X250317672503176725031767-
NM_139058.3(ARX):c.309_341dup (p.Ala105_Ala115dup)170302ARXPathogenic1365611175RCV000011953|RCV001851801; NMONDO:MONDO:0010632,MedGen:C3463992,OMIM:308350|MONDO:MONDO:0010632,MedGen:C3463992,OMIM:308350; MONDO:MONDO:0010317,MedGen:C0796244,OMIM:300419, Orphanet:777X2503177025031771X:g.25031770_25031771insGCCGCTGCCGCCGCCGCCGCCGCCGCCGCCGCCOMIM:300382.0017C3463992 308350 Epileptic encephalopathy, early infantile, 1;
NM_139058.3(ARX):c.342C>G (p.Ala114=)170302ARXLikely benign2147324330RCV001475776; NMONDO:MONDO:0010632,MedGen:C3463992,OMIM:308350; MONDO:MONDO:0010317,MedGen:C0796244,OMIM:300419, Orphanet:777X250317702503177025031770-
NM_139058.3(ARX):c.321_341del (p.Ala109_Ala115del)170302ARXUncertain significance1470521514RCV000650178; NMONDO:MONDO:0010632,MedGen:C3463992,OMIM:308350; MONDO:MONDO:0010317,MedGen:C0796244,OMIM:300419, Orphanet:777X2503177125031791NC_000023.10:g.25031776_25031796delClinGen:CA658799628C3463992 308350 Epileptic encephalopathy, early infantile, 1;
NM_139058.3(ARX):c.324_341del (p.Ala110_Ala115del)170302ARXUncertain significance2147324337RCV002019693|RCV003230724; NMONDO:MONDO:0010317,MedGen:C0796244,OMIM:300419, Orphanet:777; MONDO:MONDO:0010632,MedGen:C3463992,OMIM:308350|MedGen:CN169374X250317712503178825031770-
NM_139058.3(ARX):c.336_338del (p.Ala115del)170302ARXUncertain significance2048713322RCV001348800; NMONDO:MONDO:0010632,MedGen:C3463992,OMIM:308350; MONDO:MONDO:0010317,MedGen:C0796244,OMIM:300419, Orphanet:777X250317742503177625031773-
NM_139058.3(ARX):c.306GGC[17] (p.Ala109_Ala115dup)170302ARXPathogenic/Likely pathogenic387906492RCV000011936|RCV000193540|RCV000399003|RCV000456891|RCV002316190|RCV003323356; NMONDO:MONDO:0010632,MedGen:C3463992,OMIM:308350|MONDO:MONDO:0010268,MedGen:C1846171,OMIM:300215, Orphanet:452|MedGen:C3661900|MONDO:MONDO:0010317,MedGen:C0796244,OMIM:300419, Orphanet:777; MONDO:MONDO:0010632,MedGen:C3463992,OMIM:308350|MeSH:D030342,MedGenX2503177625031777X:g.25031776_25031777insGCCGCCGCCGCCGCCGCCGCCClinGen:CA213330,OMIM:300382.0001C3463992 308350 Epileptic encephalopathy, early infantile, 1;
NM_139058.3(ARX):c.306GGC[13] (p.Ala113_Ala115dup)170302ARXUncertain significance387906492RCV000175970|RCV001214290; NMedGen:CN517202|MONDO:MONDO:0010632,MedGen:C3463992,OMIM:308350; MONDO:MONDO:0010317,MedGen:C0796244,OMIM:300419, Orphanet:777X2503177625031777X:g.25031776_25031777insGCCGCCGCCClinGen:CA241827CN169374 not specified;
NM_139058.3(ARX):c.336A>G (p.Ala112=)170302ARXConflicting interpretations of pathogenicity794727308RCV000175971|RCV001082850; NMedGen:C3661900|MONDO:MONDO:0010632,MedGen:C3463992,OMIM:308350; MONDO:MONDO:0010317,MedGen:C0796244,OMIM:300419, Orphanet:777X2503177625031776X:g.25031776T>CClinGen:CA241829CN169374 not specified;
NM_139058.3(ARX):c.306GGC[18] (p.Ala108_Ala115dup)170302ARXPathogenic387906492RCV000192640|RCV000798531; NMONDO:MONDO:0010268,MedGen:C1846171,OMIM:300215, Orphanet:452|MONDO:MONDO:0010632,MedGen:C3463992,OMIM:308350; MONDO:MONDO:0010317,MedGen:C0796244,OMIM:300419, Orphanet:777X2503177625031777NC_000023.10:g.25031777_25031800dupClinGen:CA213320C1846171 300215 Lissencephaly 2, X-linked;
NM_139058.3(ARX):c.306GGC[12] (p.Ala114_Ala115dup)170302ARXConflicting interpretations of pathogenicity387906492RCV000537872|RCV001712445|RCV002455920; NMONDO:MONDO:0010632,MedGen:C3463992,OMIM:308350; MONDO:MONDO:0010317,MedGen:C0796244,OMIM:300419, Orphanet:777|MedGen:C3661900|MeSH:D030342,MedGen:C0950123X2503177625031777NC_000023.10:g.25031779CGC[12]ClinGen:CA16621353C3463992 308350 Epileptic encephalopathy, early infantile, 1;
NM_139058.3(ARX):c.306GGC[8] (p.Ala114_Ala115del)170302ARXBenign/Likely benign387906492RCV000145053|RCV000228763|RCV002453466; NMedGen:CN169374|MONDO:MONDO:0010632,MedGen:C3463992,OMIM:308350; MONDO:MONDO:0010317,MedGen:C0796244,OMIM:300419, Orphanet:777|MeSH:D030342,MedGen:C0950123X2503177725031782X:g.25031777_25031782delClinGen:CA171152C3463992 308350 Epileptic encephalopathy, early infantile, 1;
NM_139058.3(ARX):c.306GGC[11] (p.Ala115dup)170302ARXConflicting interpretations of pathogenicity387906492RCV000145054|RCV000152797|RCV000624905|RCV000990556|RCV001081429|RCV003422032; NMedGen:CN169374|MedGen:C3661900|MeSH:D030342,MedGen:C0950123|MONDO:MONDO:0010632,MedGen:C3463992,OMIM:308350|MONDO:MONDO:0010632,MedGen:C3463992,OMIM:308350; MONDO:MONDO:0010317,MedGen:C0796244,OMIM:300419, Orphanet:777|X2503177725031779X:g.25031776_25031777insGCCClinGen:CA171154C3463992 308350 Epileptic encephalopathy, early infantile, 1;
NM_139058.3(ARX):c.306GGC[6] (p.Ala112_Ala115del)170302ARXConflicting interpretations of pathogenicity387906492RCV000724599|RCV000812572|RCV002444704; NMedGen:C3661900|MONDO:MONDO:0010632,MedGen:C3463992,OMIM:308350; MONDO:MONDO:0010317,MedGen:C0796244,OMIM:300419, Orphanet:777|MeSH:D030342,MedGen:C0950123X2503177725031788NC_000023.10:g.25031779CGC[6]ClinGen:CA241825CN169374 not specified;
NM_139058.3(ARX):c.306GGC[9] (p.Ala115del)170302ARXBenign/Likely benign387906492RCV000471578|RCV001704579|RCV001821378|RCV002313230; NMONDO:MONDO:0010632,MedGen:C3463992,OMIM:308350; MONDO:MONDO:0010317,MedGen:C0796244,OMIM:300419, Orphanet:777|MedGen:C3661900|MedGen:CN169374|MeSH:D030342,MedGen:C0950123X2503177725031779NC_000023.10:g.25031779CGC[9]ClinGen:CA16616470C3463992 308350 Epileptic encephalopathy, early infantile, 1;
NM_139058.3(ARX):c.306GGC[7] (p.Ala113_Ala115del)170302ARXConflicting interpretations of pathogenicity387906492RCV000557851|RCV001697315|RCV002448773; NMONDO:MONDO:0010632,MedGen:C3463992,OMIM:308350; MONDO:MONDO:0010317,MedGen:C0796244,OMIM:300419, Orphanet:777|MedGen:C3661900|MeSH:D030342,MedGen:C0950123X2503177725031785X:g.25031777_25031785delClinGen:CA641364635C3463992 308350 Epileptic encephalopathy, early infantile, 1;
NM_139058.3(ARX):c.306GGC[4] (p.Ala110_Ala115del)170302ARXUncertain significance387906492RCV000543172|RCV002483482; NMONDO:MONDO:0010317,MedGen:C0796244,OMIM:300419, Orphanet:777; MONDO:MONDO:0010632,MedGen:C3463992,OMIM:308350|MONDO:MONDO:0010317,MedGen:C0796244,OMIM:300419, Orphanet:777; MONDO:MONDO:0010654,MedGen:C0796250,OMIM:309510, Orphanet:94083; MONDO:MONDO:0010632,X2503177725031794NC_000023.10:g.25031779CGC[4]ClinGen:CA658656857
NM_139058.3(ARX):c.306GGC[5] (p.Ala111_Ala115del)170302ARXConflicting interpretations of pathogenicity387906492RCV000722506|RCV001868920; NMedGen:CN517202|MONDO:MONDO:0010632,MedGen:C3463992,OMIM:308350; MONDO:MONDO:0010317,MedGen:C0796244,OMIM:300419, Orphanet:777X2503177725031791NC_000023.10:g.25031779CGC[5]-
NM_139058.3(ARX):c.306GGC[3] (p.Ala109_Ala115del)170302ARXUncertain significance387906492RCV001913988; NMONDO:MONDO:0010632,MedGen:C3463992,OMIM:308350; MONDO:MONDO:0010317,MedGen:C0796244,OMIM:300419, Orphanet:777X250317772503179725031776-
NM_139058.3(ARX):c.330G>C (p.Ala110=)170302ARXLikely benign1416343691RCV001440172; NMONDO:MONDO:0010632,MedGen:C3463992,OMIM:308350; MONDO:MONDO:0010317,MedGen:C0796244,OMIM:300419, Orphanet:777X250317822503178225031782-
NM_139058.3(ARX):c.327G>A (p.Ala109=)170302ARXLikely benign1340239089RCV001427747; NMONDO:MONDO:0010632,MedGen:C3463992,OMIM:308350; MONDO:MONDO:0010317,MedGen:C0796244,OMIM:300419, Orphanet:777X250317852503178525031785-
NM_139058.3(ARX):c.303_323dup (p.Ala109_Ala115dup)170302ARXPathogenic/Likely pathogenic2147324381RCV002290701|RCV001383076|RCV001788467; NMONDO:MONDO:0010632,MedGen:C3463992,OMIM:308350|MONDO:MONDO:0010632,MedGen:C3463992,OMIM:308350; MONDO:MONDO:0010317,MedGen:C0796244,OMIM:300419, Orphanet:777|MedGen:C3661900X250317882503178925031788-
NM_139058.3(ARX):c.318G>C (p.Ala106=)170302ARXLikely benign997762920RCV001457390; NMONDO:MONDO:0010632,MedGen:C3463992,OMIM:308350; MONDO:MONDO:0010317,MedGen:C0796244,OMIM:300419, Orphanet:777X2503179425031794X:g.25031794C>G-
NM_139058.3(ARX):c.303_317del (p.Ala111_Ala115del)170302ARXConflicting interpretations of pathogenicity1156871090RCV001244937|RCV002436965; NMONDO:MONDO:0010632,MedGen:C3463992,OMIM:308350; MONDO:MONDO:0010317,MedGen:C0796244,OMIM:300419, Orphanet:777|MeSH:D030342,MedGen:C0950123X2503179525031809X:g.25031795_25031809del-
NM_139058.3(ARX):c.315G>A (p.Ala105=)170302ARXLikely benign2048713533RCV001402492|RCV003438767; NMONDO:MONDO:0010317,MedGen:C0796244,OMIM:300419, Orphanet:777; MONDO:MONDO:0010632,MedGen:C3463992,OMIM:308350|MedGen:C3661900X250317972503179725031797-
NM_139058.3(ARX):c.312G>A (p.Ala104=)170302ARXLikely benign1419161057RCV001423606; NMONDO:MONDO:0010317,MedGen:C0796244,OMIM:300419, Orphanet:777; MONDO:MONDO:0010632,MedGen:C3463992,OMIM:308350X250318002503180025031800-
NM_139058.3(ARX):c.312G>T (p.Ala104=)170302ARXLikely benign-1RCV002957739; NMONDO:MONDO:0010632,MedGen:C3463992,OMIM:308350; MONDO:MONDO:0010317,MedGen:C0796244,OMIM:300419, Orphanet:777X2503180025031800-
NM_139058.3(ARX):c.303_308del (p.Ala114_Ala115del)170302ARXLikely benign-1RCV002629855; NMONDO:MONDO:0010632,MedGen:C3463992,OMIM:308350; MONDO:MONDO:0010317,MedGen:C0796244,OMIM:300419, Orphanet:777X2503180425031809NC_000023.10:g.25031809_25031814del-
NM_139058.3(ARX):c.306G>T (p.Ala102=)170302ARXConflicting interpretations of pathogenicity587783196RCV000145052|RCV000734606|RCV001087726|RCV002444600; NMedGen:CN221281|MedGen:C3661900|MONDO:MONDO:0010632,MedGen:C3463992,OMIM:308350; MONDO:MONDO:0010317,MedGen:C0796244,OMIM:300419, Orphanet:777|MeSH:D030342,MedGen:C0950123X2503180625031806X:g.25031806C>AClinGen:CA171150CN221281 epileptic encephalopathy, early infanitle, 1;
NM_139058.3(ARX):c.306G>A (p.Ala102=)170302ARXConflicting interpretations of pathogenicity587783196RCV000598157|RCV002062093|RCV002317343; NMedGen:C3661900|MONDO:MONDO:0010317,MedGen:C0796244,OMIM:300419, Orphanet:777; MONDO:MONDO:0010632,MedGen:C3463992,OMIM:308350|MeSH:D030342,MedGen:C0950123X2503180625031806X:g.25031806C>TClinGen:CA515948096CN169374 not specified;
NM_139058.3(ARX):c.303_305del (p.Ala115del)170302ARXLikely benign-1RCV002922077; NMONDO:MONDO:0010632,MedGen:C3463992,OMIM:308350; MONDO:MONDO:0010317,MedGen:C0796244,OMIM:300419, Orphanet:777X2503180725031809NC_000023.10:g.25031809_25031811del-
NM_139058.3(ARX):c.303A>G (p.Ala101=)170302ARXConflicting interpretations of pathogenicity797045295RCV000193562|RCV001432671|RCV001721247|RCV002444775; NMedGen:CN169374|MONDO:MONDO:0010632,MedGen:C3463992,OMIM:308350; MONDO:MONDO:0010317,MedGen:C0796244,OMIM:300419, Orphanet:777|MedGen:CN517202|MeSH:D030342,MedGen:C0950123X2503180925031809NC_000023.10:g.25031809T>CClinGen:CA207126CN169374 not specified;
NM_139058.3(ARX):c.300G>A (p.Ala100=)170302ARXConflicting interpretations of pathogenicity797045294RCV000192540|RCV000725344|RCV001089016; NMedGen:CN169374|MedGen:CN517202|MONDO:MONDO:0010632,MedGen:C3463992,OMIM:308350; MONDO:MONDO:0010317,MedGen:C0796244,OMIM:300419, Orphanet:777X2503181225031812X:g.25031812C>TClinGen:CA205423CN169374 not specified;
NM_139058.3(ARX):c.300G>C (p.Ala100=)170302ARXLikely benign-1RCV002570988; NMONDO:MONDO:0010317,MedGen:C0796244,OMIM:300419, Orphanet:777; MONDO:MONDO:0010632,MedGen:C3463992,OMIM:308350X2503181225031812-
NM_139058.3(ARX):c.294G>A (p.Gln98=)170302ARXLikely benign-1RCV003011597; NMONDO:MONDO:0010632,MedGen:C3463992,OMIM:308350; MONDO:MONDO:0010317,MedGen:C0796244,OMIM:300419, Orphanet:777X2503181825031818-
NM_139058.3(ARX):c.291T>C (p.Leu97=)170302ARXConflicting interpretations of pathogenicity2147324418RCV002153265|RCV003138093; NMONDO:MONDO:0010317,MedGen:C0796244,OMIM:300419, Orphanet:777; MONDO:MONDO:0010632,MedGen:C3463992,OMIM:308350|MedGen:C3661900X250318212503182125031821-
NM_139058.3(ARX):c.279G>A (p.Gly93=)170302ARXLikely benign1299202405RCV001437730; NMONDO:MONDO:0010632,MedGen:C3463992,OMIM:308350; MONDO:MONDO:0010317,MedGen:C0796244,OMIM:300419, Orphanet:777X2503183325031833X:g.25031833C>T-
NM_139058.3(ARX):c.279G>T (p.Gly93=)170302ARXLikely benign-1RCV003086807; NMONDO:MONDO:0010317,MedGen:C0796244,OMIM:300419, Orphanet:777; MONDO:MONDO:0010632,MedGen:C3463992,OMIM:308350X2503183325031833-
NM_139058.3(ARX):c.274G>C (p.Gly92Arg)170302ARXUncertain significance2048713809RCV001319051; NMONDO:MONDO:0010632,MedGen:C3463992,OMIM:308350; MONDO:MONDO:0010317,MedGen:C0796244,OMIM:300419, Orphanet:777X250318382503183825031838-
NM_139058.3(ARX):c.273G>C (p.Pro91=)170302ARXLikely benign-1RCV003044784; NMONDO:MONDO:0010632,MedGen:C3463992,OMIM:308350; MONDO:MONDO:0010317,MedGen:C0796244,OMIM:300419, Orphanet:777X2503183925031839-
NM_139058.3(ARX):c.268G>C (p.Gly90Arg)170302ARXUncertain significance-1RCV002979857; NMONDO:MONDO:0010632,MedGen:C3463992,OMIM:308350; MONDO:MONDO:0010317,MedGen:C0796244,OMIM:300419, Orphanet:777X2503184425031844NC_000023.10:g.25031844C>G-
NM_139058.3(ARX):c.267C>T (p.Tyr89=)170302ARXLikely benign1060504805RCV001469240; NMONDO:MONDO:0010632,MedGen:C3463992,OMIM:308350; MONDO:MONDO:0010317,MedGen:C0796244,OMIM:300419, Orphanet:777X2503184525031845NC_000023.10:g.25031845G>AClinGen:CA16616660C3463992 308350 Epileptic encephalopathy, early infantile, 1;
NM_139058.3(ARX):c.264G>A (p.Leu88=)170302ARXLikely benign1556056513RCV000650189; NMONDO:MONDO:0010632,MedGen:C3463992,OMIM:308350; MONDO:MONDO:0010317,MedGen:C0796244,OMIM:300419, Orphanet:777X2503184825031848NC_000023.10:g.25031848C>TClinGen:CA515749131C3463992 308350 Epileptic encephalopathy, early infantile, 1;
NM_139058.3(ARX):c.260G>C (p.Arg87Pro)170302ARXUncertain significance786203995RCV000167561|RCV002492677; NMedGen:CN517202|MONDO:MONDO:0010632,MedGen:C3463992,OMIM:308350; MONDO:MONDO:0010654,MedGen:C0796250,OMIM:309510, Orphanet:94083; MONDO:MONDO:0010224,MedGen:C0796124,OMIM:300004, Orphanet:2508; MONDO:MONDO:0010317,MedGen:C0796244,OMIM:300419, Orphanet:777; MONX2503185225031852X:g.25031852C>GClinGen:CA235597CN517202 not provided;
NM_139058.3(ARX):c.250A>C (p.Lys84Gln)170302ARXUncertain significance2048713939RCV001236434; NMONDO:MONDO:0010317,MedGen:C0796244,OMIM:300419, Orphanet:777; MONDO:MONDO:0010632,MedGen:C3463992,OMIM:308350X2503186225031862X:g.25031862T>G-
NM_139058.3(ARX):c.241C>T (p.Leu81=)170302ARXLikely benign1601948822RCV001483794; NMONDO:MONDO:0010632,MedGen:C3463992,OMIM:308350; MONDO:MONDO:0010317,MedGen:C0796244,OMIM:300419, Orphanet:777X2503187125031871X:g.25031871G>A-
NM_139058.3(ARX):c.237G>A (p.Leu79=)170302ARXLikely benign1212876092RCV002147259|RCV002454482; NMONDO:MONDO:0010632,MedGen:C3463992,OMIM:308350; MONDO:MONDO:0010317,MedGen:C0796244,OMIM:300419, Orphanet:777|MeSH:D030342,MedGen:C0950123X250318752503187525031875-
NM_139058.3(ARX):c.229G>A (p.Ala77Thr)170302ARXUncertain significance-1RCV003224705; NMONDO:MONDO:0010654,MedGen:C0796250,OMIM:309510, Orphanet:94083; MONDO:MONDO:0010632,MedGen:C3463992,OMIM:308350; MONDO:MONDO:0010224,MedGen:C0796124,OMIM:300004, Orphanet:2508; MONDO:MONDO:0010317,MedGen:C0796244,OMIM:300419, Orphanet:777; MONDO:MONDO:0010268X2503188325031883-
NM_139058.3(ARX):c.227A>G (p.Glu76Gly)170302ARXUncertain significance2147324478RCV001360248; NMONDO:MONDO:0010632,MedGen:C3463992,OMIM:308350; MONDO:MONDO:0010317,MedGen:C0796244,OMIM:300419, Orphanet:777X250318852503188525031885-
NM_139058.3(ARX):c.223T>G (p.Phe75Val)170302ARXConflicting interpretations of pathogenicity999545482RCV000466760|RCV000440603|RCV000623849; NMONDO:MONDO:0010317,MedGen:C0796244,OMIM:300419, Orphanet:777; MONDO:MONDO:0010632,MedGen:C3463992,OMIM:308350|MedGen:CN517202|MeSH:D030342,MedGen:C0950123X2503188925031889X:g.25031889A>CClinGen:CA16603279C3463992 308350 Epileptic encephalopathy, early infantile, 1;
NM_139058.3(ARX):c.222G>A (p.Pro74=)170302ARXLikely benign2048714056RCV001491159; NMONDO:MONDO:0010317,MedGen:C0796244,OMIM:300419, Orphanet:777; MONDO:MONDO:0010632,MedGen:C3463992,OMIM:308350X250318902503189025031890-
NM_139058.3(ARX):c.220C>G (p.Pro74Ala)170302ARXUncertain significance-1RCV002942121; NMONDO:MONDO:0010632,MedGen:C3463992,OMIM:308350; MONDO:MONDO:0010317,MedGen:C0796244,OMIM:300419, Orphanet:777X2503189225031892NC_000023.10:g.25031892G>C-
NM_139058.3(ARX):c.216C>T (p.Ser72=)170302ARXLikely benign-1RCV003031726; NMONDO:MONDO:0010632,MedGen:C3463992,OMIM:308350; MONDO:MONDO:0010317,MedGen:C0796244,OMIM:300419, Orphanet:777X2503189625031896-
NM_139058.3(ARX):c.215G>C (p.Ser72Thr)170302ARXConflicting interpretations of pathogenicity1556056580RCV000650177|RCV002424522; NMONDO:MONDO:0010632,MedGen:C3463992,OMIM:308350; MONDO:MONDO:0010317,MedGen:C0796244,OMIM:300419, Orphanet:777|MeSH:D030342,MedGen:C0950123X2503189725031897NC_000023.10:g.25031897C>GClinGen:CA412613636C3463992 308350 Epileptic encephalopathy, early infantile, 1;
NM_139058.3(ARX):c.213C>A (p.Ser71Arg)170302ARXUncertain significance-1RCV002909376; NMONDO:MONDO:0010632,MedGen:C3463992,OMIM:308350; MONDO:MONDO:0010317,MedGen:C0796244,OMIM:300419, Orphanet:777X2503189925031899NC_000023.10:g.25031899G>T-
NM_139058.3(ARX):c.211A>T (p.Ser71Cys)170302ARXConflicting interpretations of pathogenicity587783194RCV000145050|RCV000766468|RCV001339860|RCV003242987; NMedGen:CN169374|MedGen:CN517202|MONDO:MONDO:0010632,MedGen:C3463992,OMIM:308350; MONDO:MONDO:0010317,MedGen:C0796244,OMIM:300419, Orphanet:777|MeSH:D030342,MedGen:C0950123X2503190125031901NC_000023.10:g.25031901T>AClinGen:CA233285CN169374 not specified;
NM_139058.3(ARX):c.197-5C>T170302ARXLikely benign-1RCV002872748; NMONDO:MONDO:0010632,MedGen:C3463992,OMIM:308350; MONDO:MONDO:0010317,MedGen:C0796244,OMIM:300419, Orphanet:777X2503192025031920NC_000023.10:g.25031920G>A-
NM_139058.3(ARX):c.196+14C>G170302ARXLikely benign377487471RCV002157575; NMONDO:MONDO:0010632,MedGen:C3463992,OMIM:308350; MONDO:MONDO:0010317,MedGen:C0796244,OMIM:300419, Orphanet:777X250336452503364525033645-
NM_139058.3(ARX):c.196+6G>A170302ARXUncertain significance-1RCV002663264; NMONDO:MONDO:0010317,MedGen:C0796244,OMIM:300419, Orphanet:777; MONDO:MONDO:0010632,MedGen:C3463992,OMIM:308350X2503365325033653NC_000023.10:g.25033653C>T-
NM_139058.3(ARX):c.195A>G (p.Gln65=)170302ARXUncertain significance-1RCV003049370; NMONDO:MONDO:0010317,MedGen:C0796244,OMIM:300419, Orphanet:777; MONDO:MONDO:0010632,MedGen:C3463992,OMIM:308350X2503366025033660-
NM_139058.3(ARX):c.187G>A (p.Ala63Thr)170302ARXConflicting interpretations of pathogenicity769996976RCV000705004|RCV000779753|RCV000764874|RCV001544836; NMONDO:MONDO:0010317,MedGen:C0796244,OMIM:300419, Orphanet:777; MONDO:MONDO:0010632,MedGen:C3463992,OMIM:308350|MedGen:CN169374|MONDO:MONDO:0010317,MedGen:C0796244,OMIM:300419, Orphanet:777; MONDO:MONDO:0010268,MedGen:C1846171,OMIM:300215, Orphanet:452; MONDO:X2503366825033668NC_000023.10:g.25033668C>T-C3463992 308350 Epileptic encephalopathy, early infantile, 1;
NM_139058.3(ARX):c.186G>C (p.Lys62Asn)170302ARXUncertain significance2048723387RCV002026898; NMONDO:MONDO:0010632,MedGen:C3463992,OMIM:308350; MONDO:MONDO:0010317,MedGen:C0796244,OMIM:300419, Orphanet:777X250336692503366925033669-
NM_139058.3(ARX):c.180G>T (p.Pro60=)170302ARXLikely benign-1RCV002952742; NMONDO:MONDO:0010632,MedGen:C3463992,OMIM:308350; MONDO:MONDO:0010317,MedGen:C0796244,OMIM:300419, Orphanet:777X2503367525033675-
NM_139058.3(ARX):c.179C>T (p.Pro60Leu)170302ARXUncertain significance1335616654RCV001222190; NMONDO:MONDO:0010317,MedGen:C0796244,OMIM:300419, Orphanet:777; MONDO:MONDO:0010632,MedGen:C3463992,OMIM:308350X2503367625033676X:g.25033676G>A-
NM_139058.3(ARX):c.179C>G (p.Pro60Arg)170302ARXLikely benign1335616654RCV002193084; NMONDO:MONDO:0010632,MedGen:C3463992,OMIM:308350; MONDO:MONDO:0010317,MedGen:C0796244,OMIM:300419, Orphanet:777X250336762503367625033676-
NM_139058.3(ARX):c.158C>G (p.Pro53Arg)170302ARXUncertain significance1329228660RCV000821411; NMONDO:MONDO:0010632,MedGen:C3463992,OMIM:308350; MONDO:MONDO:0010317,MedGen:C0796244,OMIM:300419, Orphanet:777X2503369725033697X:g.25033697G>C-
NM_139058.3(ARX):c.155C>A (p.Ala52Asp)170302ARXUncertain significance2048723704RCV001231991; NMONDO:MONDO:0010317,MedGen:C0796244,OMIM:300419, Orphanet:777; MONDO:MONDO:0010632,MedGen:C3463992,OMIM:308350X2503370025033700X:g.25033700G>T-
NM_139058.3(ARX):c.152C>G (p.Pro51Arg)170302ARXUncertain significance-1RCV003083578; NMONDO:MONDO:0010632,MedGen:C3463992,OMIM:308350; MONDO:MONDO:0010317,MedGen:C0796244,OMIM:300419, Orphanet:777X2503370325033703NC_000023.10:g.25033703G>C-
NM_139058.3(ARX):c.148T>C (p.Leu50=)170302ARXBenign/Likely benign370342380RCV000233804|RCV001705292|RCV001820772; NMONDO:MONDO:0010632,MedGen:C3463992,OMIM:308350; MONDO:MONDO:0010317,MedGen:C0796244,OMIM:300419, Orphanet:777|MedGen:C3661900|MedGen:CN169374X2503370725033707NC_000023.10:g.25033707A>GClinGen:CA10373909C3463992 308350 Epileptic encephalopathy, early infantile, 1;
NM_139058.3(ARX):c.138C>A (p.Ala46=)170302ARXLikely benign-1RCV002975604; NMONDO:MONDO:0010632,MedGen:C3463992,OMIM:308350; MONDO:MONDO:0010317,MedGen:C0796244,OMIM:300419, Orphanet:777X2503371725033717-
NM_139058.3(ARX):c.137C>A (p.Ala46Asp)170302ARXLikely benign753049882RCV001443658|RCV002560312; NMONDO:MONDO:0010632,MedGen:C3463992,OMIM:308350; MONDO:MONDO:0010317,MedGen:C0796244,OMIM:300419, Orphanet:777|MeSH:D030342,MedGen:C0950123X250337182503371825033718-
NM_139058.3(ARX):c.137C>T (p.Ala46Val)170302ARXUncertain significance-1RCV002938650; NMONDO:MONDO:0010632,MedGen:C3463992,OMIM:308350; MONDO:MONDO:0010317,MedGen:C0796244,OMIM:300419, Orphanet:777X2503371825033718NC_000023.10:g.25033718G>A-
NM_139058.3(ARX):c.125G>C (p.Arg42Pro)170302ARXLikely benign763796730RCV002109409; NMONDO:MONDO:0010632,MedGen:C3463992,OMIM:308350; MONDO:MONDO:0010317,MedGen:C0796244,OMIM:300419, Orphanet:777X250337302503373025033730-
NM_139058.3(ARX):c.124C>A (p.Arg42=)170302ARXLikely benign866153168RCV002086882; NMONDO:MONDO:0010632,MedGen:C3463992,OMIM:308350; MONDO:MONDO:0010317,MedGen:C0796244,OMIM:300419, Orphanet:777X250337312503373125033731-
NM_139058.3(ARX):c.121A>C (p.Met41Leu)170302ARXUncertain significance2147325425RCV001809280; NMONDO:MONDO:0010632,MedGen:C3463992,OMIM:308350X250337342503373425033734-
NM_139058.3(ARX):c.99G>A (p.Leu33=)170302ARXBenign756804509RCV001511062; NMONDO:MONDO:0010632,MedGen:C3463992,OMIM:308350; MONDO:MONDO:0010317,MedGen:C0796244,OMIM:300419, Orphanet:777X250337562503375625033756-
NM_139058.3(ARX):c.91A>C (p.Ser31Arg)170302ARXUncertain significance878853107RCV000224602|RCV000819987|RCV002516241; NMedGen:CN517202|MONDO:MONDO:0010317,MedGen:C0796244,OMIM:300419, Orphanet:777; MONDO:MONDO:0010632,MedGen:C3463992,OMIM:308350|MeSH:D030342,MedGen:C0950123X2503376425033764NC_000023.10:g.25033764T>GClinGen:CA10581420CN517202 not provided;
NM_139058.3(ARX):c.87C>G (p.Ile29Met)170302ARXUncertain significance148694386RCV000695215; NMONDO:MONDO:0010632,MedGen:C3463992,OMIM:308350; MONDO:MONDO:0010317,MedGen:C0796244,OMIM:300419, Orphanet:777X2503376825033768NC_000023.10:g.25033768G>C-C3463992 308350 Epileptic encephalopathy, early infantile, 1;
NM_139058.3(ARX):c.86T>C (p.Ile29Thr)170302ARXUncertain significance2147325441RCV001977337; NMONDO:MONDO:0010632,MedGen:C3463992,OMIM:308350; MONDO:MONDO:0010317,MedGen:C0796244,OMIM:300419, Orphanet:777X250337692503376925033769-
NM_139058.3(ARX):c.84C>A (p.Cys28Ter)170302ARXLikely pathogenic932485786RCV000785913; NMONDO:MONDO:0010632,MedGen:C3463992,OMIM:308350X2503377125033771X:g.25033771G>T-
NM_139058.3(ARX):c.81C>G (p.Tyr27Ter)170302ARXPathogenic/Likely pathogenic398122854RCV000022856|RCV001542511; NMONDO:MONDO:0010632,MedGen:C3463992,OMIM:308350|MONDO:MONDO:0010317,MedGen:C0796244,OMIM:300419, Orphanet:777X2503377425033774X:g.25033774G>CClinGen:CA128800,OMIM:300382.0023C3463992 308350 Epileptic encephalopathy, early infantile, 1;
NM_139058.3(ARX):c.80A>C (p.Tyr27Ser)170302ARXUncertain significance2048724116RCV001332909; NMONDO:MONDO:0010632,MedGen:C3463992,OMIM:308350X250337752503377525033775-
NM_139058.3(ARX):c.61C>G (p.Pro21Ala)170302ARXUncertain significance1601949554RCV001916893; NMONDO:MONDO:0010317,MedGen:C0796244,OMIM:300419, Orphanet:777; MONDO:MONDO:0010632,MedGen:C3463992,OMIM:308350X250337942503379425033794-
NM_139058.3(ARX):c.44A>G (p.Glu15Gly)170302ARXUncertain significance-1RCV003018919; NMONDO:MONDO:0010632,MedGen:C3463992,OMIM:308350; MONDO:MONDO:0010317,MedGen:C0796244,OMIM:300419, Orphanet:777X2503381125033811NC_000023.10:g.25033811T>C-
NM_139058.3(ARX):c.42C>G (p.Pro14=)170302ARXLikely benign2048724355RCV001495974; NMONDO:MONDO:0010632,MedGen:C3463992,OMIM:308350; MONDO:MONDO:0010317,MedGen:C0796244,OMIM:300419, Orphanet:777X250338132503381325033813-
NM_139058.3(ARX):c.33C>T (p.Ser11=)170302ARXLikely benign-1RCV002705483; NMONDO:MONDO:0010317,MedGen:C0796244,OMIM:300419, Orphanet:777; MONDO:MONDO:0010632,MedGen:C3463992,OMIM:308350X2503382225033822-
NM_139058.3(ARX):c.19G>A (p.Glu7Lys)170302ARXUncertain significance-1RCV002629409; NMONDO:MONDO:0010632,MedGen:C3463992,OMIM:308350; MONDO:MONDO:0010317,MedGen:C0796244,OMIM:300419, Orphanet:777X2503383625033836NC_000023.10:g.25033836C>T-
NM_139058.3(ARX):c.14A>T (p.Tyr5Phe)170302ARXLikely benign-1RCV002942628|RCV003170648; NMONDO:MONDO:0010632,MedGen:C3463992,OMIM:308350; MONDO:MONDO:0010317,MedGen:C0796244,OMIM:300419, Orphanet:777|MeSH:D030342,MedGen:C0950123X2503384125033841NC_000023.10:g.25033841T>A-
NM_139058.3(ARX):c.8A>G (p.Asn3Ser)170302ARXLikely benign771031915RCV001246962; NMONDO:MONDO:0010632,MedGen:C3463992,OMIM:308350; MONDO:MONDO:0010317,MedGen:C0796244,OMIM:300419, Orphanet:777X2503384725033847X:g.25033847T>C-
NM_139058.3(ARX):c.1A>T (p.Met1Leu)170302ARXLikely pathogenic-1RCV003314520; NMONDO:MONDO:0010632,MedGen:C3463992,OMIM:308350X2503385425033854-
NM_001127222.2(CACNA1A):c.7124C>A (p.Ala2375Asp)773CACNA1AUncertain significance2054617959RCV001091780|RCV001169896; NMedGen:C3661900|MONDO:MONDO:0010632,MedGen:C3463992,OMIM:30835019133185241331852419:g.13318524G>T-
NM_001127222.2(CACNA1A):c.6630CCA[5] (p.His2216_His2219del)773CACNA1AConflicting interpretations of pathogenicity759331923RCV000483584|RCV000791013|RCV001353376; NMedGen:CN517202|MONDO:MONDO:0010632,MedGen:C3463992,OMIM:308350|Human Phenotype Ontology:HP:0002394,Human Phenotype Ontology:HP:0030051,Human Phenotype Ontology:HP:0040083,MedGen:C0427144191331969413319705NC_000019.9:g.13319696GTG[5]ClinGen:CA16620770CN169374 not specified;
NM_001127222.2(CACNA1A):c.3310_3315dup (p.Gly1104_Pro1105dup)773CACNA1AConflicting interpretations of pathogenicity776584949RCV000714690|RCV000714691|RCV000714692|RCV001351528; NMONDO:MONDO:0008457,MedGen:C0752124,OMIM:183086, Orphanet:98758|MONDO:MONDO:0007163,MedGen:C1720416,OMIM:108500, Orphanet:97|MONDO:MONDO:0010632,MedGen:C3463992,OMIM:308350|MONDO:MONDO:0007163,MedGen:C1720416,OMIM:108500, Orphanet:97; MONDO:MONDO:0014917,Me191339755413397555NC_000019.9:g.13397559_13397564dup-
NM_001199107.2(TBC1D24):c.641G>A (p.Arg214His)-1CCNF;TBC1D24Conflicting interpretations of pathogenicity200324356RCV000118580|RCV000535912|RCV000661907|RCV000770979|RCV001084019|RCV001120426|RCV002316323; NMedGen:CN169374|MedGen:C3661900|MONDO:MONDO:0010632,MedGen:C3463992,OMIM:308350|MONDO:MONDO:0013826,MedGen:C2829265,OMIM:614617, Orphanet:90636|MONDO:MONDO:0014470,MedGen:C3892048,OMIM:616044, Orphanet:90635; MONDO:MONDO:0010632,MedGen:C3463992,OMIM:308350162546790254679016:g.2546790G>AClinGen:CA289069C3809181 Caused by mutation in the TBC1 domain family, member 24;
NM_001323289.2(CDKL5):c.415G>A (p.Glu139Lys)6792CDKL5Likely pathogenic-1RCV002284133; NMONDO:MONDO:0010632,MedGen:C3463992,OMIM:308350X186000221860002218600022-
NM_001271.4(CHD2):c.3702A>C (p.Lys1234Asn)1106CHD2Uncertain significance-1RCV003326099|RCV003327603; NMONDO:MONDO:0010632,MedGen:C3463992,OMIM:308350|MedGen:CN517202159354029393540293-
NM_152221.3(CSNK1E):c.885+1G>A1454CSNK1EPathogenic1569077009RCV000721134; NMONDO:MONDO:0010632,MedGen:C3463992,OMIM:308350223869479038694790NC_000022.10:g.38694790C>T-
NM_004408.4(DNM1):c.1335+1638G>A1759DNM1Pathogenic/Likely pathogenic747079285RCV000492949|RCV001824808|RCV002286525; NMedGen:CN517202|MONDO:MONDO:0010632,MedGen:C3463992,OMIM:308350|MONDO:MONDO:0014598,MedGen:C4225357,OMIM:616346, Orphanet:238291309883061309883069:g.130988306G>AClinGen:CA645369412,OMIM:602377.0006CN169374 not specified;
NM_000814.6(GABRB3):c.841A>G (p.Thr281Ala)2562GABRB3Conflicting interpretations of pathogenicity1555401442RCV000662203|RCV000662204|RCV003333096; NMONDO:MONDO:0010632,MedGen:C3463992,OMIM:308350|MONDO:MONDO:0020759,MedGen:C1838604,OMIM:600131, Orphanet:64280|MONDO:MONDO:0014921,MedGen:C4310712,OMIM:617113152680631826806318NC_000015.9:g.26806318T>C-C1838604 600131 Epilepsy, childhood absence 1;
NM_020988.3(GNAO1):c.119G>T (p.Gly40Val)2775GNAO1Likely pathogenic886041766RCV000714659|RCV000714660; NMONDO:MONDO:0010632,MedGen:C3463992,OMIM:308350|MONDO:MONDO:0060491,MedGen:C4479569,OMIM:617493165622648656226486NC_000016.9:g.56226486G>T-
NM_007327.4(GRIN1):c.1927A>G (p.Ile643Val)2902GRIN1Conflicting interpretations of pathogenicity1554770243RCV000649654|RCV002283502; NMONDO:MONDO:0013655,MedGen:C3280282,OMIM:614254|MONDO:MONDO:0010632,MedGen:C3463992,OMIM:30835091400571051400571059:g.140057105A>GClinGen:CA375720687C3280282 614254 Neurodevelopmental disorder with or without hyperkinetic movements and seizures, autosomal dominant;
NM_031844.3(HNRNPU):c.353C>A (p.Ser118Ter)3192HNRNPUPathogenic1057524584RCV000424048|RCV001824767; NMedGen:CN517202|MONDO:MONDO:0010632,MedGen:C3463992,OMIM:30835012450272572450272571:g.245027257G>TClinGen:CA16603678CN517202 not provided;
NM_004974.4(KCNA2):c.906T>G (p.Phe302Leu)3737KCNA2Likely pathogenic764822052RCV001527627; NMONDO:MONDO:0010632,MedGen:C3463992,OMIM:3083501111146499111146499111146499-
NM_004974.4(KCNA2):c.890G>A (p.Arg297Gln)3737KCNA2Pathogenic786205232RCV000170514|RCV000264400|RCV000622743|RCV001252020|RCV001374910; NMONDO:MONDO:0014607,MedGen:C4225350,OMIM:616366, Orphanet:442835|MedGen:C3661900|MeSH:D030342,MedGen:C0950123|MONDO:MONDO:0010632,MedGen:C3463992,OMIM:308350|MONDO:MONDO:0700092,MeSH:D065886,MedGen:C153592611111465151111465151:g.111146515C>TClinGen:CA199675,UniProtKB:P16389#VAR_073705,OMIM:176262.0004C4225350 616366 Epileptic encephalopathy, early infantile, 32;
NM_172107.4(KCNQ2):c.1160del (p.Pro387fs)3785KCNQ2Pathogenic796052657RCV000187931|RCV000226746|RCV001252033; NMedGen:CN517202|MONDO:MONDO:0100062,MedGen:C0393706,OMIM:PS308350, Orphanet:1934|MONDO:MONDO:0010632,MedGen:C3463992,OMIM:308350206205977762059777NC_000020.10:g.62059782delClinGen:CA315519
NM_172107.4(KCNQ2):c.1046C>T (p.Thr349Ile)3785KCNQ2Conflicting interpretations of pathogenicity2080906453RCV001252032|RCV001823009|RCV001799751; NMONDO:MONDO:0010632,MedGen:C3463992,OMIM:308350|MONDO:MONDO:0013387,MedGen:C3150986,OMIM:613720, Orphanet:439218|MONDO:MONDO:0007365,MedGen:C3149074,OMIM:121200, Orphanet:194920620652346206523420:g.62065234G>A-
NM_172107.4(KCNQ2):c.787A>G (p.Thr263Ala)3785KCNQ2Likely pathogenic2081188385RCV001252029; NMONDO:MONDO:0010632,MedGen:C3463992,OMIM:30835020620737886207378820:g.62073788T>C-
NM_172107.4(KCNQ2):c.584_593delinsA (p.Ser195_Arg198delinsTer)3785KCNQ2Pathogenic118192197RCV000678081|RCV002269819; NMONDO:MONDO:0010632,MedGen:C3463992,OMIM:308350|MONDO:MONDO:0007365,MedGen:C3149074,OMIM:121200, Orphanet:194920620761096207611820:g.62076110_62076118delOMIM:602235.0009C3463992 308350 Epileptic encephalopathy, early infantile, 1;
NM_172107.4(KCNQ2):c.286C>A (p.His96Asn)3785KCNQ2Pathogenic2082232988RCV001252031; NMONDO:MONDO:0010632,MedGen:C3463992,OMIM:30835020621035316210353120:g.62103531G>T-
NM_022080.3(NAPB):c.421-1G>A63908NAPBConflicting interpretations of pathogenicity1983849974RCV001257153|RCV002283535; NMONDO:MONDO:0010632,MedGen:C3463992,OMIM:308350|MONDO:MONDO:0031055,MedGen:C5774215,OMIM:62003320233709022337090220:g.23370902C>TOMIM:611270.0003
NM_015080.4(NRXN2):c.3176G>A (p.Arg1059Gln)9379NRXN2Uncertain significance777033569RCV000785661; NMONDO:MONDO:0010632,MedGen:C3463992,OMIM:30835011644163136441631311:g.64416313C>T-
NM_001100913.3(PACS2):c.1706G>A (p.Arg569Gln)23241PACS2Uncertain significance-1RCV002294565|RCV003097850; NMONDO:MONDO:0010632,MedGen:C3463992,OMIM:308350|MedGen:CN51720214105849776105849776105849776-
NM_001184880.2(PCDH19):c.1151T>G (p.Val384Gly)57526PCDH19Uncertain significance-1RCV002284150; NMONDO:MONDO:0010632,MedGen:C3463992,OMIM:308350X996624459966244599662445-
NM_015192.4(PLCB1):c.3337-69G>A23236PLCB1Likely benign45541432RCV000626123; NMONDO:MONDO:0010632,MedGen:C3463992,OMIM:308350208770753877075320:g.8770753G>AClinGen:CA311276733C3463992 308350 Epileptic encephalopathy, early infantile, 1;
NM_004726.3(REPS2):c.1822C>T (p.Gln608Ter)9185REPS2Uncertain significance-1RCV003338062; NMONDO:MONDO:0010632,MedGen:C3463992,OMIM:308350X1715699217156992-
NM_001165963.4(SCN1A):c.2134C>T (p.Arg712Ter)6323SCN1APathogenic794726730RCV000174291|RCV000188886|RCV000534243|RCV001004670|RCV001527645|RCV001824659|RCV002515207; NMONDO:MONDO:0100135,MedGen:C0751122,OMIM:607208, Orphanet:33069|MedGen:C3661900|MONDO:MONDO:0100062,MedGen:C0393706,OMIM:PS308350, Orphanet:1934|MONDO:MONDO:0011461,MedGen:C1858673,OMIM:604403, Orphanet:36387|MONDO:MONDO:0010632,MedGen:C3463992,OMIM:3083502166898844166898844NC_000002.11:g.166898844G>AClinGen:CA274966C0393706 Early infantile epileptic encephalopathy;
NM_001165963.4(SCN1A):c.2020G>C (p.Asp674His)6323SCN1AConflicting interpretations of pathogenicity1574214734RCV000791093|RCV000791092|RCV001036370; NMONDO:MONDO:0010632,MedGen:C3463992,OMIM:308350|MONDO:MONDO:0011416,MedGen:C1858672,OMIM:604233, Orphanet:36387|MONDO:MONDO:0100062,MedGen:C0393706,OMIM:PS308350, Orphanet:193421669002021669002022:g.166900202C>G-
NM_001165963.4(SCN1A):c.126_128delinsCC (p.Lys42fs)6323SCN1APathogenic2105983330RCV001527643; NMONDO:MONDO:0010632,MedGen:C3463992,OMIM:3083502166930004166930006166930004-
NM_001330260.2(SCN8A):c.4399T>G (p.Phe1467Val)6334SCN8ALikely pathogenic-1RCV002284140; NMONDO:MONDO:0010632,MedGen:C3463992,OMIM:30835012521831825218318252183182-
NM_003705.5(SLC25A12):c.1490T>A (p.Ile497Asn)8604SLC25A12Likely pathogenic2105837590RCV002274449; NMONDO:MONDO:0010632,MedGen:C3463992,OMIM:3083502172648056172648056172648056-
NM_006516.4(SLC2A1):c.197_198delinsAA (p.Ser66Ter)6513SLC2A1Pathogenic-1RCV002284144; NMONDO:MONDO:0010632,MedGen:C3463992,OMIM:3083501433967944339679543396794-
NM_005660.3(SLC35A2):c.1066_1067insGCCTCT (p.Ala355_Ser356insCysLeu)7355SLC35A2Uncertain significance1557042706RCV000626159; NMONDO:MONDO:0010632,MedGen:C3463992,OMIM:308350X4876211948762120X:g.48762119_48762120insAGAGGCClinGen:CA658799741C3463992 308350 Epileptic encephalopathy, early infantile, 1;
NM_006279.5(ST3GAL3):c.631G>A (p.Glu211Lys)6487ST3GAL3Uncertain significance1448699021RCV000784977|RCV001329555; NMONDO:MONDO:0010632,MedGen:C3463992,OMIM:308350|MONDO:MONDO:0014003,MedGen:C3554316,OMIM:615006, Orphanet:3451144365286443652861:g.44365286G>A-
NM_203446.3(SYNJ1):c.3601C>T (p.Arg1201Cys)8867SYNJ1Conflicting interpretations of pathogenicity114994257RCV000784964|RCV000784965|RCV000784966|RCV001523237; NMONDO:MONDO:0010632,MedGen:C3463992,OMIM:308350|MONDO:MONDO:0014233,MedGen:C3809824,OMIM:615530, Orphanet:391411|MONDO:MONDO:0033362,MedGen:C4479313,OMIM:617389|MONDO:MONDO:0014233,MedGen:C3809824,OMIM:615530, Orphanet:391411; MONDO:MONDO:0033362,MedGen:C421340120773401207721:g.34012077G>A-
NM_203446.3(SYNJ1):c.1600C>T (p.Arg534Ter)8867SYNJ1Likely pathogenic1569075471RCV000761360; NMONDO:MONDO:0010632,MedGen:C3463992,OMIM:308350213404577634045776NC_000021.8:g.34045776G>A-
NM_001365999.1(SZT2):c.4343G>A (p.Arg1448His)23334SZT2Uncertain significance775153972RCV000714622|RCV000714621|RCV001222205|RCV002316013; NMONDO:MONDO:0014201,MedGen:C3809624,OMIM:615476, Orphanet:369894|MONDO:MONDO:0010632,MedGen:C3463992,OMIM:308350|MedGen:C3661900|MeSH:D030342,MedGen:C095012314389571643895716NC_000001.10:g.43895716G>A-
NC_000016.9:g.(?_2098597)_(2550979_?)dup57465TBC1D24Uncertain significance-1RCV001308310; NMONDO:MONDO:0010632,MedGen:C3463992,OMIM:308350; MONDO:MONDO:0014470,MedGen:C3892048,OMIM:616044, Orphanet:90635; MedGen:CN2368051620985972550979-1-
NC_000016.10:g.(?_2496129)_(2500978_?)del57465TBC1D24Pathogenic-1RCV000537439; NMONDO:MONDO:0014470,MedGen:C3892048,OMIM:616044, Orphanet:90635; MONDO:MONDO:0010632,MedGen:C3463992,OMIM:308350; MedGen:CN2368051625461302550979-C3809181 Caused by mutation in the TBC1 domain family, member 24;
NC_000016.9:g.(?_2546130)_(2550979_?)dup57465TBC1D24Uncertain significance-1RCV000811344; NMONDO:MONDO:0010632,MedGen:C3463992,OMIM:308350; MedGen:CN236805; MONDO:MONDO:0014470,MedGen:C3892048,OMIM:616044, Orphanet:906351625461302550979-
NM_001199107.2(TBC1D24):c.1A>G (p.Met1Val)57465TBC1D24Uncertain significance2141870575RCV001372620; NMONDO:MONDO:0010632,MedGen:C3463992,OMIM:308350; MONDO:MONDO:0014470,MedGen:C3892048,OMIM:616044, Orphanet:90635; MedGen:CN23680516254615025461502546150-
NC_000016.9:g.(?_2546150)_(2550959_?)del57465TBC1D24Pathogenic-1RCV001896986; NMedGen:CN236805; MONDO:MONDO:0014470,MedGen:C3892048,OMIM:616044, Orphanet:90635; MONDO:MONDO:0010632,MedGen:C3463992,OMIM:3083501625461502550959-1-
NC_000016.9:g.(?_2546150)_(2550959_?)dup57465TBC1D24Uncertain significance-1RCV003105657; NMedGen:CN236805; MONDO:MONDO:0010632,MedGen:C3463992,OMIM:308350; MONDO:MONDO:0014470,MedGen:C3892048,OMIM:616044, Orphanet:906351625461502550959-
NM_001199107.2(TBC1D24):c.13G>C (p.Gly5Arg)57465TBC1D24Uncertain significance772570554RCV000355013|RCV002518122; NMedGen:CN517202|MedGen:CN236805; MONDO:MONDO:0010632,MedGen:C3463992,OMIM:308350; MONDO:MONDO:0014470,MedGen:C3892048,OMIM:616044, Orphanet:90635162546162254616216:g.2546162G>CClinGen:CA7843904CN169374 not specified;
NM_001199107.2(TBC1D24):c.22T>C (p.Cys8Arg)57465TBC1D24Benign/Likely benign77585883RCV000175683|RCV000315686|RCV000553843|RCV001085275|RCV002426842; NMedGen:CN169374|MONDO:MONDO:0011506,MedGen:C0917800,OMIM:605021, Orphanet:352582|MedGen:C3661900|MedGen:CN236805; MONDO:MONDO:0010632,MedGen:C3463992,OMIM:308350; MONDO:MONDO:0014470,MedGen:C3892048,OMIM:616044, Orphanet:90635|MeSH:D030342,MedGen:C0950123162546171254617116:g.2546171T>CClinGen:CA201584C3809181 Caused by mutation in the TBC1 domain family, member 24;
NM_001199107.2(TBC1D24):c.24C>G (p.Cys8Trp)57465TBC1D24Uncertain significance-1RCV002998823; NMedGen:CN236805; MONDO:MONDO:0010632,MedGen:C3463992,OMIM:308350; MONDO:MONDO:0014470,MedGen:C3892048,OMIM:616044, Orphanet:906351625461732546173NC_000016.9:g.2546173C>G-
NM_001199107.2(TBC1D24):c.27C>T (p.Phe9=)57465TBC1D24Likely benign759193465RCV000443309|RCV001481045; NMedGen:CN169374|MedGen:CN236805; MONDO:MONDO:0014470,MedGen:C3892048,OMIM:616044, Orphanet:90635; MONDO:MONDO:0010632,MedGen:C3463992,OMIM:308350162546176254617616:g.2546176C>TClinGen:CA7843907CN169374 not specified;
NM_001199107.2(TBC1D24):c.28G>A (p.Val10Met)57465TBC1D24Uncertain significance767293945RCV000800917|RCV001809818|RCV002534661; NMedGen:CN236805; MONDO:MONDO:0014470,MedGen:C3892048,OMIM:616044, Orphanet:90635; MONDO:MONDO:0010632,MedGen:C3463992,OMIM:308350|MONDO:MONDO:0014133,MedGen:C3809173,OMIM:615338, Orphanet:293181, Orphanet:352596|MeSH:D030342,MedGen:C0950123162546177254617716:g.2546177G>A-
NM_001199107.2(TBC1D24):c.36A>G (p.Lys12=)57465TBC1D24Uncertain significance752594126RCV001351550; NMONDO:MONDO:0014470,MedGen:C3892048,OMIM:616044, Orphanet:90635; MONDO:MONDO:0010632,MedGen:C3463992,OMIM:308350; MedGen:CN23680516254618525461852546185-
NM_001199107.2(TBC1D24):c.39C>T (p.Asp13=)57465TBC1D24Likely benign-1RCV002971925; NMedGen:CN236805; MONDO:MONDO:0010632,MedGen:C3463992,OMIM:308350; MONDO:MONDO:0014470,MedGen:C3892048,OMIM:616044, Orphanet:906351625461882546188-
NM_001199107.2(TBC1D24):c.45G>C (p.Met15Ile)57465TBC1D24Uncertain significance-1RCV002953983; NMedGen:CN236805; MONDO:MONDO:0010632,MedGen:C3463992,OMIM:308350; MONDO:MONDO:0014470,MedGen:C3892048,OMIM:616044, Orphanet:906351625461942546194NC_000016.9:g.2546194G>C-
NM_001199107.2(TBC1D24):c.48C>T (p.Asp16=)57465TBC1D24Likely benign555276293RCV001430851|RCV001697866; NMONDO:MONDO:0014470,MedGen:C3892048,OMIM:616044, Orphanet:90635; MONDO:MONDO:0010632,MedGen:C3463992,OMIM:308350; MedGen:CN236805|MedGen:C3661900162546197254619716:g.2546197C>TClinGen:CA7843912CN169374 not specified;
NM_001199107.2(TBC1D24):c.49G>A (p.Ala17Thr)57465TBC1D24Conflicting interpretations of pathogenicity757359393RCV001303275|RCV003426033; NMONDO:MONDO:0014470,MedGen:C3892048,OMIM:616044, Orphanet:90635; MedGen:CN236805; MONDO:MONDO:0010632,MedGen:C3463992,OMIM:308350|MedGen:C366190016254619825461982546198-
NM_001199107.2(TBC1D24):c.56del (p.Ile19fs)57465TBC1D24Pathogenic2141870681RCV001870872; NMedGen:CN236805; MONDO:MONDO:0014470,MedGen:C3892048,OMIM:616044, Orphanet:90635; MONDO:MONDO:0010632,MedGen:C3463992,OMIM:30835016254620525462052546204-
NM_001199107.2(TBC1D24):c.58C>T (p.Gln20Ter)57465TBC1D24Pathogenic201257588RCV000481616|RCV001865442; NMedGen:CN517202|MONDO:MONDO:0010632,MedGen:C3463992,OMIM:308350; MONDO:MONDO:0014470,MedGen:C3892048,OMIM:616044, Orphanet:90635; MedGen:CN236805162546207254620716:g.2546207C>TClinGen:CA7843914CN517202 not provided;
NM_001199107.2(TBC1D24):c.64C>T (p.Leu22=)57465TBC1D24Likely benign746087403RCV001467581; NMedGen:CN236805; MONDO:MONDO:0010632,MedGen:C3463992,OMIM:308350; MONDO:MONDO:0014470,MedGen:C3892048,OMIM:616044, Orphanet:9063516254621325462132546213-
NM_001199107.2(TBC1D24):c.67G>C (p.Gly23Arg)57465TBC1D24Uncertain significance2141870701RCV001881547|RCV003136253; NMONDO:MONDO:0010632,MedGen:C3463992,OMIM:308350; MONDO:MONDO:0014470,MedGen:C3892048,OMIM:616044, Orphanet:90635; MedGen:CN236805|MedGen:C366190016254621625462162546216-
NM_001199107.2(TBC1D24):c.68G>A (p.Gly23Glu)57465TBC1D24Uncertain significance1567410958RCV000705303; NMedGen:CN236805; MONDO:MONDO:0010632,MedGen:C3463992,OMIM:308350; MONDO:MONDO:0014470,MedGen:C3892048,OMIM:616044, Orphanet:906351625462172546217NC_000016.9:g.2546217G>A-C3809181 Caused by mutation in the TBC1 domain family, member 24;
NM_001199107.2(TBC1D24):c.69G>A (p.Gly23=)57465TBC1D24Likely benign-1RCV002947217; NMedGen:CN236805; MONDO:MONDO:0010632,MedGen:C3463992,OMIM:308350; MONDO:MONDO:0014470,MedGen:C3892048,OMIM:616044, Orphanet:906351625462182546218-
NM_001199107.2(TBC1D24):c.76_77delinsTT (p.Glu26Leu)57465TBC1D24Uncertain significance2065735848RCV001326630; NMONDO:MONDO:0010632,MedGen:C3463992,OMIM:308350; MedGen:CN236805; MONDO:MONDO:0014470,MedGen:C3892048,OMIM:616044, Orphanet:9063516254622525462262546225-
NM_001199107.2(TBC1D24):c.76G>A (p.Glu26Lys)57465TBC1D24Uncertain significance369120050RCV001349965; NMONDO:MONDO:0014470,MedGen:C3892048,OMIM:616044, Orphanet:90635; MONDO:MONDO:0010632,MedGen:C3463992,OMIM:308350; MedGen:CN23680516254622525462252546225-
NM_001199107.2(TBC1D24):c.86G>T (p.Cys29Phe)57465TBC1D24Uncertain significance2065735946RCV001338716; NMedGen:CN236805; MONDO:MONDO:0010632,MedGen:C3463992,OMIM:308350; MONDO:MONDO:0014470,MedGen:C3892048,OMIM:616044, Orphanet:9063516254623525462352546235-
NM_001199107.2(TBC1D24):c.87C>T (p.Cys29=)57465TBC1D24Likely benign768933496RCV002203311; NMONDO:MONDO:0010632,MedGen:C3463992,OMIM:308350; MedGen:CN236805; MONDO:MONDO:0014470,MedGen:C3892048,OMIM:616044, Orphanet:9063516254623625462362546236-
NM_001199107.2(TBC1D24):c.88A>G (p.Thr30Ala)57465TBC1D24Uncertain significance2065736000RCV001347979; NMONDO:MONDO:0014470,MedGen:C3892048,OMIM:616044, Orphanet:90635; MONDO:MONDO:0010632,MedGen:C3463992,OMIM:308350; MedGen:CN23680516254623725462372546237-
NM_001199107.2(TBC1D24):c.90T>C (p.Thr30=)57465TBC1D24Conflicting interpretations of pathogenicity575173753RCV000215261|RCV000867066|RCV001118599|RCV001722164; NMedGen:CN169374|MONDO:MONDO:0010632,MedGen:C3463992,OMIM:308350; MONDO:MONDO:0014470,MedGen:C3892048,OMIM:616044, Orphanet:90635; MedGen:CN236805|MONDO:MONDO:0011506,MedGen:C0917800,OMIM:605021, Orphanet:352582|MedGen:C36619001625462392546239NC_000016.9:g.2546239T>CClinGen:CA7843921CN169374 not specified;
NM_001199107.2(TBC1D24):c.94C>T (p.Leu32=)57465TBC1D24Likely benign1246835125RCV001445593; NMONDO:MONDO:0014470,MedGen:C3892048,OMIM:616044, Orphanet:90635; MONDO:MONDO:0010632,MedGen:C3463992,OMIM:308350; MedGen:CN23680516254624325462432546243-
NM_001199107.2(TBC1D24):c.95T>G (p.Leu32Arg)57465TBC1D24Uncertain significance2141870761RCV001772618|RCV001882880; NMedGen:C3661900|MONDO:MONDO:0010632,MedGen:C3463992,OMIM:308350; MedGen:CN236805; MONDO:MONDO:0014470,MedGen:C3892048,OMIM:616044, Orphanet:9063516254624425462442546244-
NM_001199107.2(TBC1D24):c.102A>G (p.Glu34=)57465TBC1D24Likely benign1178639246RCV000651575; NMONDO:MONDO:0014470,MedGen:C3892048,OMIM:616044, Orphanet:90635; MONDO:MONDO:0010632,MedGen:C3463992,OMIM:308350; MedGen:CN236805162546251254625116:g.2546251A>GClinGen:CA493160453C3809181 Caused by mutation in the TBC1 domain family, member 24;
NM_001199107.2(TBC1D24):c.115G>C (p.Ala39Pro)57465TBC1D24Pathogenic770363653RCV001377313; NMedGen:CN236805; MONDO:MONDO:0010632,MedGen:C3463992,OMIM:308350; MONDO:MONDO:0014470,MedGen:C3892048,OMIM:616044, Orphanet:9063516254626425462642546264-
NM_001199107.2(TBC1D24):c.116C>A (p.Ala39Glu)57465TBC1D24Conflicting interpretations of pathogenicity773916549RCV000522781|RCV001223084|RCV001775493; NMedGen:CN169374|MedGen:CN236805; MONDO:MONDO:0014470,MedGen:C3892048,OMIM:616044, Orphanet:90635; MONDO:MONDO:0010632,MedGen:C3463992,OMIM:308350|MedGen:CN517202162546265254626516:g.2546265C>AClinGen:CA7843923CN169374 not specified;
NM_001199107.2(TBC1D24):c.116C>T (p.Ala39Val)57465TBC1D24Pathogenic773916549RCV000533814|RCV001591283; NMONDO:MONDO:0014470,MedGen:C3892048,OMIM:616044, Orphanet:90635; MONDO:MONDO:0010632,MedGen:C3463992,OMIM:308350; MedGen:CN236805|MedGen:CN5172021625462652546265NC_000016.9:g.2546265C>TClinGen:CA7843924C3809181 Caused by mutation in the TBC1 domain family, member 24;
NM_001199107.2(TBC1D24):c.117G>A (p.Ala39=)57465TBC1D24Likely benign537494711RCV001468363|RCV001692386; NMedGen:CN236805; MONDO:MONDO:0010632,MedGen:C3463992,OMIM:308350; MONDO:MONDO:0014470,MedGen:C3892048,OMIM:616044, Orphanet:90635|MedGen:C366190016254626625462662546266-
NM_001199107.2(TBC1D24):c.118C>T (p.Arg40Cys)57465TBC1D24Pathogenic398122966RCV000076914|RCV001563390|RCV001854346; NMONDO:MONDO:0009079,MedGen:C0795934,OMIM:220500, Orphanet:3231, Orphanet:79500|MedGen:C3661900|MedGen:CN236805; MONDO:MONDO:0014470,MedGen:C3892048,OMIM:616044, Orphanet:90635; MONDO:MONDO:0010632,MedGen:C3463992,OMIM:308350162546267254626716:g.2546267C>TClinGen:CA345418,UniProtKB:Q9ULP9#VAR_070913,OMIM:613577.0008C1857345 220500 Digitorenocerebral syndrome;
NM_001199107.2(TBC1D24):c.119G>T (p.Arg40Leu)57465TBC1D24Pathogenic/Likely pathogenic760474458RCV000192066|RCV001850282; NMONDO:MONDO:0009079,MedGen:C0795934,OMIM:220500, Orphanet:3231, Orphanet:79500|MONDO:MONDO:0010632,MedGen:C3463992,OMIM:308350; MONDO:MONDO:0014470,MedGen:C3892048,OMIM:616044, Orphanet:90635; MedGen:CN2368051625462682546268NC_000016.9:g.2546268G>TClinGen:CA347136C1857345 220500 Digitorenocerebral syndrome;
NM_001199107.2(TBC1D24):c.119G>A (p.Arg40His)57465TBC1D24Pathogenic/Likely pathogenic760474458RCV001062408|RCV001814264; NMedGen:CN236805; MONDO:MONDO:0010632,MedGen:C3463992,OMIM:308350; MONDO:MONDO:0014470,MedGen:C3892048,OMIM:616044, Orphanet:90635|Human Phenotype Ontology:HP:0000707,Human Phenotype Ontology:HP:0001333,Human Phenotype Ontology:HP:0006987,MONDO:MONDO:000232162546268254626816:g.2546268G>A-
NM_001199107.2(TBC1D24):c.121C>T (p.Gln41Ter)57465TBC1D24Pathogenic1057524191RCV000436259|RCV000697787; NMedGen:CN517202|MedGen:CN236805; MONDO:MONDO:0010632,MedGen:C3463992,OMIM:308350; MONDO:MONDO:0014470,MedGen:C3892048,OMIM:616044, Orphanet:90635162546270254627016:g.2546270C>TClinGen:CA16608135C3809181 Caused by mutation in the TBC1 domain family, member 24;
NM_001199107.2(TBC1D24):c.131G>A (p.Trp44Ter)57465TBC1D24Pathogenic1567411053RCV000728495|RCV001862149; NMedGen:CN517202|MONDO:MONDO:0010632,MedGen:C3463992,OMIM:308350; MedGen:CN236805; MONDO:MONDO:0014470,MedGen:C3892048,OMIM:616044, Orphanet:906351625462802546280NC_000016.9:g.2546280G>A-
NM_001199107.2(TBC1D24):c.132G>A (p.Trp44Ter)57465TBC1D24Pathogenic-1RCV003073373; NMONDO:MONDO:0014470,MedGen:C3892048,OMIM:616044, Orphanet:90635; MedGen:CN236805; MONDO:MONDO:0010632,MedGen:C3463992,OMIM:3083501625462812546281NC_000016.9:g.2546281G>A-
NM_001199107.2(TBC1D24):c.143A>T (p.His48Leu)57465TBC1D24Uncertain significance761844771RCV000804194; NMedGen:CN236805; MONDO:MONDO:0014470,MedGen:C3892048,OMIM:616044, Orphanet:90635; MONDO:MONDO:0010632,MedGen:C3463992,OMIM:308350162546292254629216:g.2546292A>T-
NM_001199107.2(TBC1D24):c.144C>G (p.His48Gln)57465TBC1D24Uncertain significance765396824RCV001063912|RCV001195521; NMedGen:CN236805; MONDO:MONDO:0010632,MedGen:C3463992,OMIM:308350; MONDO:MONDO:0014470,MedGen:C3892048,OMIM:616044, Orphanet:90635|MedGen:CN169374162546293254629316:g.2546293C>G-
NM_001199107.2(TBC1D24):c.144C>T (p.His48=)57465TBC1D24Likely benign765396824RCV001402793; NMedGen:CN236805; MONDO:MONDO:0014470,MedGen:C3892048,OMIM:616044, Orphanet:90635; MONDO:MONDO:0010632,MedGen:C3463992,OMIM:30835016254629325462932546293-
NM_001199107.2(TBC1D24):c.145G>A (p.Ala49Thr)57465TBC1D24Uncertain significance758665573RCV000379638|RCV002522838; NMONDO:MONDO:0011506,MedGen:C0917800,OMIM:605021, Orphanet:352582|MONDO:MONDO:0010632,MedGen:C3463992,OMIM:308350; MedGen:CN236805; MONDO:MONDO:0014470,MedGen:C3892048,OMIM:616044, Orphanet:906351625462942546294NC_000016.9:g.2546294G>AClinGen:CA7843932C0917800 605021 Myoclonic epilepsy, familial infantile;
NM_001199107.2(TBC1D24):c.152G>A (p.Arg51Gln)57465TBC1D24Uncertain significance780286465RCV001302839; NMONDO:MONDO:0010632,MedGen:C3463992,OMIM:308350; MONDO:MONDO:0014470,MedGen:C3892048,OMIM:616044, Orphanet:90635; MedGen:CN23680516254630125463012546301-
NM_001199107.2(TBC1D24):c.154G>A (p.Gly52Arg)57465TBC1D24Uncertain significance751753013RCV000792896|RCV001840732; NMedGen:CN236805; MONDO:MONDO:0014470,MedGen:C3892048,OMIM:616044, Orphanet:90635; MONDO:MONDO:0010632,MedGen:C3463992,OMIM:308350|MedGen:CN517202162546303254630316:g.2546303G>A-
NM_001199107.2(TBC1D24):c.155G>A (p.Gly52Glu)57465TBC1D24Uncertain significance755313242RCV001933222; NMONDO:MONDO:0014470,MedGen:C3892048,OMIM:616044, Orphanet:90635; MedGen:CN236805; MONDO:MONDO:0010632,MedGen:C3463992,OMIM:30835016254630425463042546304-
NM_001199107.2(TBC1D24):c.160G>T (p.Val54Leu)57465TBC1D24Uncertain significance-1RCV002296617; NMONDO:MONDO:0014470,MedGen:C3892048,OMIM:616044, Orphanet:90635; MONDO:MONDO:0010632,MedGen:C3463992,OMIM:308350; MedGen:CN23680516254630925463092546309-
NM_001199107.2(TBC1D24):c.162G>A (p.Val54=)57465TBC1D24Likely benign-1RCV002949323; NMedGen:CN236805; MONDO:MONDO:0010632,MedGen:C3463992,OMIM:308350; MONDO:MONDO:0014470,MedGen:C3892048,OMIM:616044, Orphanet:906351625463112546311-
NM_001199107.2(TBC1D24):c.167A>T (p.Gln56Leu)57465TBC1D24Uncertain significance2141870903RCV001758652|RCV001868506; NMedGen:C3661900|MedGen:CN236805; MONDO:MONDO:0010632,MedGen:C3463992,OMIM:308350; MONDO:MONDO:0014470,MedGen:C3892048,OMIM:616044, Orphanet:9063516254631625463162546316-
NM_001199107.2(TBC1D24):c.169C>T (p.Arg57Cys)57465TBC1D24Conflicting interpretations of pathogenicity202162520RCV000189679|RCV000340164|RCV000585579|RCV000656037|RCV001084629|RCV002314614; NMedGen:CN169374|MONDO:MONDO:0011506,MedGen:C0917800,OMIM:605021, Orphanet:352582|MedGen:C3661900|MONDO:MONDO:0007295,MedGen:C0376532, Orphanet:1945|MONDO:MONDO:0010632,MedGen:C3463992,OMIM:308350; MedGen:CN236805; MONDO:MONDO:0014470,MedGen:C3892048,OMIM:61162546318254631816:g.2546318C>TClinGen:CA241775C3809181 Caused by mutation in the TBC1 domain family, member 24;
NM_001199107.2(TBC1D24):c.172del (p.Arg57_Leu58insTer)57465TBC1D24Pathogenic1555501140RCV000651566; NMONDO:MONDO:0014470,MedGen:C3892048,OMIM:616044, Orphanet:90635; MONDO:MONDO:0010632,MedGen:C3463992,OMIM:308350; MedGen:CN2368051625463202546320NC_000016.9:g.2546321delClinGen:CA620709056C3809181 Caused by mutation in the TBC1 domain family, member 24;
NM_001199107.2(TBC1D24):c.178C>T (p.Arg60Trp)57465TBC1D24Conflicting interpretations of pathogenicity373914077RCV000189704|RCV000704370|RCV002399704; NMedGen:C3661900|MONDO:MONDO:0010632,MedGen:C3463992,OMIM:308350; MedGen:CN236805; MONDO:MONDO:0014470,MedGen:C3892048,OMIM:616044, Orphanet:90635|MeSH:D030342,MedGen:C09501231625463272546327NC_000016.9:g.2546327C>TClinGen:CA319072C3809181 Caused by mutation in the TBC1 domain family, member 24;
NM_001199107.2(TBC1D24):c.179G>A (p.Arg60Gln)57465TBC1D24Conflicting interpretations of pathogenicity200226466RCV000189705|RCV000431937|RCV000651565|RCV001120140|RCV002408852|RCV003401034; NMedGen:CN169374|MedGen:C3661900|MONDO:MONDO:0010632,MedGen:C3463992,OMIM:308350; MedGen:CN236805; MONDO:MONDO:0014470,MedGen:C3892048,OMIM:616044, Orphanet:90635|MONDO:MONDO:0011506,MedGen:C0917800,OMIM:605021, Orphanet:352582|MeSH:D030342,MedGen:C0950123|1625463282546328NC_000016.9:g.2546328G>AClinGen:CA319074C3809181 Caused by mutation in the TBC1 domain family, member 24;
NM_001199107.2(TBC1D24):c.181G>T (p.Asp61Tyr)57465TBC1D24Uncertain significance-1RCV003051963; NMedGen:CN236805; MONDO:MONDO:0010632,MedGen:C3463992,OMIM:308350; MONDO:MONDO:0014470,MedGen:C3892048,OMIM:616044, Orphanet:906351625463302546330NC_000016.9:g.2546330G>T-
NM_001199107.2(TBC1D24):c.187C>T (p.Pro63Ser)57465TBC1D24Uncertain significance952274725RCV001041006; NMONDO:MONDO:0010632,MedGen:C3463992,OMIM:308350; MONDO:MONDO:0014470,MedGen:C3892048,OMIM:616044, Orphanet:90635; MedGen:CN236805162546336254633616:g.2546336C>T-
NM_001199107.2(TBC1D24):c.192C>T (p.Cys64=)57465TBC1D24Likely benign878854271RCV001504900; NMONDO:MONDO:0010632,MedGen:C3463992,OMIM:308350; MONDO:MONDO:0014470,MedGen:C3892048,OMIM:616044, Orphanet:90635; MedGen:CN236805162546341254634116:g.2546341C>TClinGen:CA10583389C3809181 Caused by mutation in the TBC1 domain family, member 24;
NM_001199107.2(TBC1D24):c.193C>T (p.Arg65Cys)57465TBC1D24Conflicting interpretations of pathogenicity750421791RCV001212453|RCV001586055|RCV002411784; NMONDO:MONDO:0010632,MedGen:C3463992,OMIM:308350; MONDO:MONDO:0014470,MedGen:C3892048,OMIM:616044, Orphanet:90635; MedGen:CN236805|MedGen:CN517202|MeSH:D030342,MedGen:C0950123162546342254634216:g.2546342C>T-
NM_001199107.2(TBC1D24):c.194G>A (p.Arg65His)57465TBC1D24Uncertain significance-1RCV002994489; NMedGen:CN236805; MONDO:MONDO:0010632,MedGen:C3463992,OMIM:308350; MONDO:MONDO:0014470,MedGen:C3892048,OMIM:616044, Orphanet:906351625463432546343NC_000016.9:g.2546343G>A-
NM_001199107.2(TBC1D24):c.197C>T (p.Thr66Met)57465TBC1D24Uncertain significance371245371RCV001566577|RCV001043733; NMedGen:C3661900|MONDO:MONDO:0014470,MedGen:C3892048,OMIM:616044, Orphanet:90635; MONDO:MONDO:0010632,MedGen:C3463992,OMIM:308350; MedGen:CN236805162546346254634616:g.2546346C>T-
NM_001199107.2(TBC1D24):c.197C>G (p.Thr66Arg)57465TBC1D24Uncertain significance371245371RCV002008804; NMedGen:CN236805; MONDO:MONDO:0010632,MedGen:C3463992,OMIM:308350; MONDO:MONDO:0014470,MedGen:C3892048,OMIM:616044, Orphanet:9063516254634625463462546346-
NM_001199107.2(TBC1D24):c.198G>A (p.Thr66=)57465TBC1D24Likely benign373088306RCV000695504; NMedGen:CN236805; MONDO:MONDO:0010632,MedGen:C3463992,OMIM:308350; MONDO:MONDO:0014470,MedGen:C3892048,OMIM:616044, Orphanet:906351625463472546347NC_000016.9:g.2546347G>A-C3809181 Caused by mutation in the TBC1 domain family, member 24;
NM_001199107.2(TBC1D24):c.199G>C (p.Val67Leu)57465TBC1D24Uncertain significance751738454RCV001991800|RCV003238888|RCV003250396; NMONDO:MONDO:0010632,MedGen:C3463992,OMIM:308350; MedGen:CN236805; MONDO:MONDO:0014470,MedGen:C3892048,OMIM:616044, Orphanet:90635|MedGen:C3661900|MeSH:D030342,MedGen:C095012316254634825463482546348-
NM_001199107.2(TBC1D24):c.203C>G (p.Thr68Arg)57465TBC1D24Uncertain significance866586869RCV001037317; NMONDO:MONDO:0010632,MedGen:C3463992,OMIM:308350; MONDO:MONDO:0014470,MedGen:C3892048,OMIM:616044, Orphanet:90635; MedGen:CN236805162546352254635216:g.2546352C>G-
NM_001199107.2(TBC1D24):c.204G>A (p.Thr68=)57465TBC1D24Benign/Likely benign201374999RCV000128363|RCV000376259|RCV000467479|RCV001529565|RCV002312622; NMedGen:CN169374|MONDO:MONDO:0011506,MedGen:C0917800,OMIM:605021, Orphanet:352582|MONDO:MONDO:0010632,MedGen:C3463992,OMIM:308350; MedGen:CN236805; MONDO:MONDO:0014470,MedGen:C3892048,OMIM:616044, Orphanet:90635|MedGen:C3661900|MeSH:D030342,MedGen:C09501231625463532546353NC_000016.9:g.2546353G>AClinGen:CA293860C3809181 Caused by mutation in the TBC1 domain family, member 24;
NM_001199107.2(TBC1D24):c.207T>C (p.Pro69=)57465TBC1D24Benign13339237RCV000118579|RCV000291158|RCV000472833|RCV002312511; NMedGen:CN169374|MONDO:MONDO:0011506,MedGen:C0917800,OMIM:605021, Orphanet:352582|MONDO:MONDO:0014470,MedGen:C3892048,OMIM:616044, Orphanet:90635; MONDO:MONDO:0010632,MedGen:C3463992,OMIM:308350; MedGen:CN236805|MeSH:D030342,MedGen:C0950123162546356254635616:g.2546356T>CClinGen:CA289066C3809181 Caused by mutation in the TBC1 domain family, member 24;
NM_001199107.2(TBC1D24):c.210C>T (p.Asp70=)57465TBC1D24Likely benign373872223RCV000458407|RCV001721535|RCV002418465; NMONDO:MONDO:0014470,MedGen:C3892048,OMIM:616044, Orphanet:90635; MONDO:MONDO:0010632,MedGen:C3463992,OMIM:308350; MedGen:CN236805|MedGen:C3661900|MeSH:D030342,MedGen:C09501231625463592546359NC_000016.9:g.2546359C>TClinGen:CA7843950C3809181 Caused by mutation in the TBC1 domain family, member 24;
NM_001199107.2(TBC1D24):c.211G>A (p.Ala71Thr)57465TBC1D24Uncertain significance756581138RCV001052355; NMONDO:MONDO:0010632,MedGen:C3463992,OMIM:308350; MONDO:MONDO:0014470,MedGen:C3892048,OMIM:616044, Orphanet:90635; MedGen:CN236805162546360254636016:g.2546360G>A-
NM_001199107.2(TBC1D24):c.213C>T (p.Ala71=)57465TBC1D24Likely benign778212970RCV000221689|RCV000470416; NMedGen:CN169374|MedGen:CN236805; MONDO:MONDO:0010632,MedGen:C3463992,OMIM:308350; MONDO:MONDO:0014470,MedGen:C3892048,OMIM:616044, Orphanet:906351625463622546362NC_000016.9:g.2546362C>TClinGen:CA7843952C3809181 Caused by mutation in the TBC1 domain family, member 24;
NM_001199107.2(TBC1D24):c.215G>A (p.Ser72Asn)57465TBC1D24Uncertain significance2141871042RCV001922136; NMedGen:CN236805; MONDO:MONDO:0010632,MedGen:C3463992,OMIM:308350; MONDO:MONDO:0014470,MedGen:C3892048,OMIM:616044, Orphanet:9063516254636425463642546364-
NM_001199107.2(TBC1D24):c.216C>T (p.Ser72=)57465TBC1D24Likely benign749814291RCV002039335; NMONDO:MONDO:0010632,MedGen:C3463992,OMIM:308350; MONDO:MONDO:0014470,MedGen:C3892048,OMIM:616044, Orphanet:90635; MedGen:CN23680516254636525463652546365-
NM_001199107.2(TBC1D24):c.217G>A (p.Val73Met)57465TBC1D24Uncertain significance370078844RCV000811679|RCV001576610|RCV002495125|RCV002424907; NMONDO:MONDO:0010632,MedGen:C3463992,OMIM:308350; MedGen:CN236805; MONDO:MONDO:0014470,MedGen:C3892048,OMIM:616044, Orphanet:90635|MedGen:CN517202|6 conditions|MeSH:D030342,MedGen:C0950123162546366254636616:g.2546366G>A-
NM_001199107.2(TBC1D24):c.225C>T (p.Ser75=)57465TBC1D24Likely benign201220026RCV000603645|RCV001425114; NMedGen:CN169374|MONDO:MONDO:0010632,MedGen:C3463992,OMIM:308350; MONDO:MONDO:0014470,MedGen:C3892048,OMIM:616044, Orphanet:90635; MedGen:CN236805162546374254637416:g.2546374C>TClinGen:CA7843956CN169374 not specified;
NM_001199107.2(TBC1D24):c.226G>A (p.Asp76Asn)57465TBC1D24Uncertain significance979223146RCV000808342; NMONDO:MONDO:0010632,MedGen:C3463992,OMIM:308350; MedGen:CN236805; MONDO:MONDO:0014470,MedGen:C3892048,OMIM:616044, Orphanet:90635162546375254637516:g.2546375G>A-
NM_001199107.2(TBC1D24):c.227A>G (p.Asp76Gly)57465TBC1D24Uncertain significance-1RCV002297768; NMONDO:MONDO:0014470,MedGen:C3892048,OMIM:616044, Orphanet:90635; MONDO:MONDO:0010632,MedGen:C3463992,OMIM:308350; MedGen:CN23680516254637625463762546376-
NM_001199107.2(TBC1D24):c.229ATCGTGGGCAAG[1] (p.77IVGK[1])57465TBC1D24Conflicting interpretations of pathogenicity761918906RCV000478982|RCV000808206|RCV001044367|RCV002311804; NMedGen:C3661900|MONDO:MONDO:0011970,MedGen:C1842531,OMIM:608105, Orphanet:163727|MONDO:MONDO:0014470,MedGen:C3892048,OMIM:616044, Orphanet:90635; MONDO:MONDO:0010632,MedGen:C3463992,OMIM:308350; MedGen:CN236805|MeSH:D030342,MedGen:C09501231625463782546389NC_000016.9:g.2546378ATCGTGGGCAAG[1]ClinGen:CA7843957,OMIM:613577.0017CN517202 not provided;
NM_001199107.2(TBC1D24):c.231C>T (p.Ile77=)57465TBC1D24Likely benign375578380RCV002540884; NMONDO:MONDO:0010632,MedGen:C3463992,OMIM:308350; MONDO:MONDO:0014470,MedGen:C3892048,OMIM:616044, Orphanet:90635; MedGen:CN236805162546380254638016:g.2546380C>T-
NM_001199107.2(TBC1D24):c.232G>A (p.Val78Met)57465TBC1D24Uncertain significance776539630RCV000346114|RCV001041152; NMONDO:MONDO:0011506,MedGen:C0917800,OMIM:605021, Orphanet:352582|MedGen:CN236805; MONDO:MONDO:0010632,MedGen:C3463992,OMIM:308350; MONDO:MONDO:0014470,MedGen:C3892048,OMIM:616044, Orphanet:906351625463812546381NC_000016.9:g.2546381G>AClinGen:CA7843959C0917800 605021 Myoclonic epilepsy, familial infantile;
NM_001199107.2(TBC1D24):c.243C>T (p.Ile81=)57465TBC1D24Likely benign745405784RCV000436316|RCV000866451|RCV001400068; NMedGen:CN169374|MedGen:CN517202|MedGen:CN236805; MONDO:MONDO:0014470,MedGen:C3892048,OMIM:616044, Orphanet:90635; MONDO:MONDO:0010632,MedGen:C3463992,OMIM:308350162546392254639216:g.2546392C>TClinGen:CA16608137CN169374 not specified;
NM_001199107.2(TBC1D24):c.244G>T (p.Val82Leu)57465TBC1D24Uncertain significance747915584RCV000796700; NMONDO:MONDO:0010632,MedGen:C3463992,OMIM:308350; MONDO:MONDO:0014470,MedGen:C3892048,OMIM:616044, Orphanet:90635; MedGen:CN236805162546393254639316:g.2546393G>T-
NM_001199107.2(TBC1D24):c.244G>A (p.Val82Met)57465TBC1D24Uncertain significance747915584RCV001221858|RCV001120141; NMONDO:MONDO:0014470,MedGen:C3892048,OMIM:616044, Orphanet:90635; MedGen:CN236805; MONDO:MONDO:0010632,MedGen:C3463992,OMIM:308350|MONDO:MONDO:0011506,MedGen:C0917800,OMIM:605021, Orphanet:352582162546393254639316:g.2546393G>A-
NM_001199107.2(TBC1D24):c.247G>T (p.Gly83Cys)57465TBC1D24Uncertain significance-1RCV003032299; NMedGen:CN236805; MONDO:MONDO:0010632,MedGen:C3463992,OMIM:308350; MONDO:MONDO:0014470,MedGen:C3892048,OMIM:616044, Orphanet:906351625463962546396NC_000016.9:g.2546396G>T-
NM_001199107.2(TBC1D24):c.253C>T (p.His85Tyr)57465TBC1D24Uncertain significance2065739166RCV001055715; NMONDO:MONDO:0010632,MedGen:C3463992,OMIM:308350; MONDO:MONDO:0014470,MedGen:C3892048,OMIM:616044, Orphanet:90635; MedGen:CN236805162546402254640216:g.2546402C>T-
NM_001199107.2(TBC1D24):c.253C>G (p.His85Asp)57465TBC1D24Uncertain significance2065739166RCV001314850; NMONDO:MONDO:0010632,MedGen:C3463992,OMIM:308350; MONDO:MONDO:0014470,MedGen:C3892048,OMIM:616044, Orphanet:90635; MedGen:CN23680516254640225464022546402-
NM_001199107.2(TBC1D24):c.257G>A (p.Ser86Asn)57465TBC1D24Uncertain significance-1RCV002452830|RCV003101989; NMeSH:D030342,MedGen:C0950123|MONDO:MONDO:0014470,MedGen:C3892048,OMIM:616044, Orphanet:90635; MONDO:MONDO:0010632,MedGen:C3463992,OMIM:308350; MedGen:CN23680516254640625464062546406-
NM_001199107.2(TBC1D24):c.259A>G (p.Ser87Gly)57465TBC1D24Uncertain significance2065739291RCV001301782; NMONDO:MONDO:0010632,MedGen:C3463992,OMIM:308350; MONDO:MONDO:0014470,MedGen:C3892048,OMIM:616044, Orphanet:90635; MedGen:CN23680516254640825464082546408-
NM_001199107.2(TBC1D24):c.263G>A (p.Ser88Asn)57465TBC1D24Uncertain significance2065739388RCV001225479; NMedGen:CN236805; MONDO:MONDO:0010632,MedGen:C3463992,OMIM:308350; MONDO:MONDO:0014470,MedGen:C3892048,OMIM:616044, Orphanet:90635162546412254641216:g.2546412G>A-
NM_001199107.2(TBC1D24):c.264C>T (p.Ser88=)57465TBC1D24Likely benign2141871200RCV001406681; NMedGen:CN236805; MONDO:MONDO:0010632,MedGen:C3463992,OMIM:308350; MONDO:MONDO:0014470,MedGen:C3892048,OMIM:616044, Orphanet:9063516254641325464132546413-
NM_001199107.2(TBC1D24):c.270_286del (p.Pro91fs)57465TBC1D24Pathogenic-1RCV003051981; NMedGen:CN236805; MONDO:MONDO:0010632,MedGen:C3463992,OMIM:308350; MONDO:MONDO:0014470,MedGen:C3892048,OMIM:616044, Orphanet:906351625464192546435NC_000016.9:g.2546419_2546435del-
NM_001199107.2(TBC1D24):c.272C>T (p.Pro91Leu)57465TBC1D24Uncertain significance543224888RCV001092723|RCV001370017; NMedGen:C3661900|MedGen:CN236805; MONDO:MONDO:0010632,MedGen:C3463992,OMIM:308350; MONDO:MONDO:0014470,MedGen:C3892048,OMIM:616044, Orphanet:90635162546421254642116:g.2546421C>T-
NM_001199107.2(TBC1D24):c.273G>A (p.Pro91=)57465TBC1D24Likely benign762804146RCV001481354|RCV002439150; NMONDO:MONDO:0010632,MedGen:C3463992,OMIM:308350; MedGen:CN236805; MONDO:MONDO:0014470,MedGen:C3892048,OMIM:616044, Orphanet:90635|MeSH:D030342,MedGen:C095012316254642225464222546422-
NM_001199107.2(TBC1D24):c.274C>T (p.Leu92=)57465TBC1D24Likely benign-1RCV003043753; NMedGen:CN236805; MONDO:MONDO:0010632,MedGen:C3463992,OMIM:308350; MONDO:MONDO:0014470,MedGen:C3892048,OMIM:616044, Orphanet:906351625464232546423-
NM_001199107.2(TBC1D24):c.279C>T (p.Pro93=)57465TBC1D24Likely benign1021608042RCV002133666; NMONDO:MONDO:0014470,MedGen:C3892048,OMIM:616044, Orphanet:90635; MONDO:MONDO:0010632,MedGen:C3463992,OMIM:308350; MedGen:CN23680516254642825464282546428-
NM_001199107.2(TBC1D24):c.280G>A (p.Glu94Lys)57465TBC1D24Uncertain significance1343535255RCV002035830; NMONDO:MONDO:0010632,MedGen:C3463992,OMIM:308350; MedGen:CN236805; MONDO:MONDO:0014470,MedGen:C3892048,OMIM:616044, Orphanet:9063516254642925464292546429-
NM_001199107.2(TBC1D24):c.284T>C (p.Phe95Ser)57465TBC1D24Uncertain significance-1RCV003040043; NMedGen:CN236805; MONDO:MONDO:0010632,MedGen:C3463992,OMIM:308350; MONDO:MONDO:0014470,MedGen:C3892048,OMIM:616044, Orphanet:906351625464332546433NC_000016.9:g.2546433T>C-
NM_001199107.2(TBC1D24):c.285C>T (p.Phe95=)57465TBC1D24Conflicting interpretations of pathogenicity774354974RCV000487982|RCV002063826|RCV002313261; NMedGen:C3661900|MONDO:MONDO:0014470,MedGen:C3892048,OMIM:616044, Orphanet:90635; MONDO:MONDO:0010632,MedGen:C3463992,OMIM:308350; MedGen:CN236805|MeSH:D030342,MedGen:C0950123162546434254643416:g.2546434C>TClinGen:CA7843965CN517202 not provided;
NM_001199107.2(TBC1D24):c.297G>A (p.Thr99=)57465TBC1D24Likely benign767766165RCV000604228|RCV000871831|RCV001726267; NMedGen:CN169374|MONDO:MONDO:0014470,MedGen:C3892048,OMIM:616044, Orphanet:90635; MONDO:MONDO:0010632,MedGen:C3463992,OMIM:308350; MedGen:CN236805|MedGen:C3661900162546446254644616:g.2546446G>AClinGen:CA7843967CN169374 not specified;
NM_001199107.2(TBC1D24):c.312C>T (p.Tyr104=)57465TBC1D24Likely benign754301066RCV000601837|RCV002063159; NMedGen:CN169374|MONDO:MONDO:0010632,MedGen:C3463992,OMIM:308350; MedGen:CN236805; MONDO:MONDO:0014470,MedGen:C3892048,OMIM:616044, Orphanet:90635162546461254646116:g.2546461C>TClinGen:CA7843971CN169374 not specified;
NM_001199107.2(TBC1D24):c.317T>A (p.Leu106Gln)57465TBC1D24Uncertain significance-1RCV003006457; NMONDO:MONDO:0014470,MedGen:C3892048,OMIM:616044, Orphanet:90635; MONDO:MONDO:0010632,MedGen:C3463992,OMIM:308350; MedGen:CN2368051625464662546466NC_000016.9:g.2546466T>A-
NM_001199107.2(TBC1D24):c.321T>A (p.Asn107Lys)57465TBC1D24Likely pathogenic1057524192RCV000418994|RCV001049900; NMedGen:CN517202|MedGen:CN236805; MONDO:MONDO:0010632,MedGen:C3463992,OMIM:308350; MONDO:MONDO:0014470,MedGen:C3892048,OMIM:616044, Orphanet:90635162546470254647016:g.2546470T>AClinGen:CA16608138CN517202 not provided;
NM_001199107.2(TBC1D24):c.325C>G (p.Arg109Gly)57465TBC1D24Uncertain significance372337277RCV000542284; NMONDO:MONDO:0014470,MedGen:C3892048,OMIM:616044, Orphanet:90635; MONDO:MONDO:0010632,MedGen:C3463992,OMIM:308350; MedGen:CN2368051625464742546474NC_000016.9:g.2546474C>GClinGen:CA7843972C3809181 Caused by mutation in the TBC1 domain family, member 24;
NM_001199107.2(TBC1D24):c.325C>T (p.Arg109Cys)57465TBC1D24Uncertain significance372337277RCV000984950|RCV001306123|RCV003413770; NMONDO:MONDO:0014470,MedGen:C3892048,OMIM:616044, Orphanet:90635|MONDO:MONDO:0014470,MedGen:C3892048,OMIM:616044, Orphanet:90635; MONDO:MONDO:0010632,MedGen:C3463992,OMIM:308350; MedGen:CN236805|162546474254647416:g.2546474C>T-
NM_001199107.2(TBC1D24):c.325C>A (p.Arg109Ser)57465TBC1D24Uncertain significance-1RCV002298098; NMONDO:MONDO:0014470,MedGen:C3892048,OMIM:616044, Orphanet:90635; MONDO:MONDO:0010632,MedGen:C3463992,OMIM:308350; MedGen:CN23680516254647425464742546474-
NM_001199107.2(TBC1D24):c.326G>A (p.Arg109His)57465TBC1D24Uncertain significance746543920RCV000996169|RCV001120420|RCV001372600; NMedGen:C3661900|MONDO:MONDO:0011506,MedGen:C0917800,OMIM:605021, Orphanet:352582|MONDO:MONDO:0014470,MedGen:C3892048,OMIM:616044, Orphanet:90635; MONDO:MONDO:0010632,MedGen:C3463992,OMIM:308350; MedGen:CN236805162546475254647516:g.2546475G>A-
NM_001199107.2(TBC1D24):c.327C>T (p.Arg109=)57465TBC1D24Likely benign754551693RCV000218340|RCV000651576|RCV003417770; NMedGen:CN169374|MONDO:MONDO:0010632,MedGen:C3463992,OMIM:308350; MONDO:MONDO:0014470,MedGen:C3892048,OMIM:616044, Orphanet:90635; MedGen:CN236805|MedGen:C36619001625464762546476NC_000016.9:g.2546476C>TClinGen:CA7843976C3809181 Caused by mutation in the TBC1 domain family, member 24;
NM_001199107.2(TBC1D24):c.328G>A (p.Gly110Ser)57465TBC1D24Conflicting interpretations of pathogenicity747821285RCV000192068|RCV000420758|RCV000554753; NMONDO:MONDO:0009079,MedGen:C0795934,OMIM:220500, Orphanet:3231, Orphanet:79500|MedGen:C3661900|MONDO:MONDO:0010632,MedGen:C3463992,OMIM:308350; MONDO:MONDO:0014470,MedGen:C3892048,OMIM:616044, Orphanet:90635; MedGen:CN2368051625464772546477NC_000016.9:g.2546477G>AClinGen:CA347140,UniProtKB:Q9ULP9#VAR_070914C3809181 Caused by mutation in the TBC1 domain family, member 24;
NM_001199107.2(TBC1D24):c.330C>T (p.Gly110=)57465TBC1D24Likely benign779117497RCV000214990|RCV001365597; NMedGen:CN169374|MONDO:MONDO:0010632,MedGen:C3463992,OMIM:308350; MedGen:CN236805; MONDO:MONDO:0014470,MedGen:C3892048,OMIM:616044, Orphanet:906351625464792546479NC_000016.9:g.2546479C>TClinGen:CA7843977CN169374 not specified;
NM_001199107.2(TBC1D24):c.331G>A (p.Glu111Lys)57465TBC1D24Uncertain significance773211471RCV000819375|RCV001120421|RCV002051897; NMONDO:MONDO:0014470,MedGen:C3892048,OMIM:616044, Orphanet:90635; MedGen:CN236805; MONDO:MONDO:0010632,MedGen:C3463992,OMIM:308350|MONDO:MONDO:0011506,MedGen:C0917800,OMIM:605021, Orphanet:352582|MedGen:CN517202162546480254648016:g.2546480G>A-
NM_001199107.2(TBC1D24):c.331G>C (p.Glu111Gln)57465TBC1D24Uncertain significance-1RCV003063073; NMONDO:MONDO:0014470,MedGen:C3892048,OMIM:616044, Orphanet:90635; MedGen:CN236805; MONDO:MONDO:0010632,MedGen:C3463992,OMIM:3083501625464802546480NC_000016.9:g.2546480G>C-
NM_001199107.2(TBC1D24):c.333G>A (p.Glu111=)57465TBC1D24Likely benign749237671RCV000529868; NMONDO:MONDO:0014470,MedGen:C3892048,OMIM:616044, Orphanet:90635; MONDO:MONDO:0010632,MedGen:C3463992,OMIM:308350; MedGen:CN236805162546482254648216:g.2546482G>AClinGen:CA7843979C3809181 Caused by mutation in the TBC1 domain family, member 24;
NM_001199107.2(TBC1D24):c.333G>T (p.Glu111Asp)57465TBC1D24Uncertain significance-1RCV002301611; NMONDO:MONDO:0014470,MedGen:C3892048,OMIM:616044, Orphanet:90635; MONDO:MONDO:0010632,MedGen:C3463992,OMIM:308350; MedGen:CN23680516254648225464822546482-
NM_001199107.2(TBC1D24):c.339C>A (p.Ala113=)57465TBC1D24Likely benign-1RCV003045791; NMONDO:MONDO:0014470,MedGen:C3892048,OMIM:616044, Orphanet:90635; MONDO:MONDO:0010632,MedGen:C3463992,OMIM:308350; MedGen:CN2368051625464882546488-
NM_001199107.2(TBC1D24):c.340G>A (p.Val114Met)57465TBC1D24Uncertain significance368575199RCV000189681|RCV001039085; NMedGen:CN517202|MONDO:MONDO:0010632,MedGen:C3463992,OMIM:308350; MONDO:MONDO:0014470,MedGen:C3892048,OMIM:616044, Orphanet:90635; MedGen:CN236805162546489254648916:g.2546489G>AClinGen:CA319013CN169374 not specified;
NM_001199107.2(TBC1D24):c.343C>T (p.Arg115Cys)57465TBC1D24Uncertain significance372531999RCV000189682|RCV001058657|RCV002314767; NMedGen:C3661900|MONDO:MONDO:0014470,MedGen:C3892048,OMIM:616044, Orphanet:90635; MONDO:MONDO:0010632,MedGen:C3463992,OMIM:308350; MedGen:CN236805|MeSH:D030342,MedGen:C09501231625464922546492NC_000016.9:g.2546492C>TClinGen:CA319015CN169374 not specified;
NM_001199107.2(TBC1D24):c.344G>A (p.Arg115His)57465TBC1D24Conflicting interpretations of pathogenicity201174513RCV000189683|RCV000529645|RCV000766892; NMedGen:CN169374|MONDO:MONDO:0010632,MedGen:C3463992,OMIM:308350; MedGen:CN236805; MONDO:MONDO:0014470,MedGen:C3892048,OMIM:616044, Orphanet:90635|MedGen:C36619001625464932546493NC_000016.9:g.2546493G>AClinGen:CA319018C3809181 Caused by mutation in the TBC1 domain family, member 24;
NM_001199107.2(TBC1D24):c.348G>A (p.Lys116=)57465TBC1D24Likely benign-1RCV002967751; NMedGen:CN236805; MONDO:MONDO:0010632,MedGen:C3463992,OMIM:308350; MONDO:MONDO:0014470,MedGen:C3892048,OMIM:616044, Orphanet:906351625464972546497-
NM_001199107.2(TBC1D24):c.352C>T (p.Leu118Phe)57465TBC1D24Uncertain significance-1RCV003022717; NMedGen:CN236805; MONDO:MONDO:0010632,MedGen:C3463992,OMIM:308350; MONDO:MONDO:0014470,MedGen:C3892048,OMIM:616044, Orphanet:906351625465012546501NC_000016.9:g.2546501C>T-
NM_001199107.2(TBC1D24):c.354C>G (p.Leu118=)57465TBC1D24Likely benign2141871420RCV002188689; NMedGen:CN236805; MONDO:MONDO:0010632,MedGen:C3463992,OMIM:308350; MONDO:MONDO:0014470,MedGen:C3892048,OMIM:616044, Orphanet:9063516254650325465032546503-
NM_001199107.2(TBC1D24):c.368A>G (p.Asn123Ser)57465TBC1D24Uncertain significance1457138817RCV001038888; NMONDO:MONDO:0010632,MedGen:C3463992,OMIM:308350; MONDO:MONDO:0014470,MedGen:C3892048,OMIM:616044, Orphanet:90635; MedGen:CN236805162546517254651716:g.2546517A>G-
NM_001199107.2(TBC1D24):c.373T>C (p.Phe125Leu)57465TBC1D24Uncertain significance1567411503RCV000688677; NMedGen:CN236805; MONDO:MONDO:0010632,MedGen:C3463992,OMIM:308350; MONDO:MONDO:0014470,MedGen:C3892048,OMIM:616044, Orphanet:906351625465222546522NC_000016.9:g.2546522T>C-C3809181 Caused by mutation in the TBC1 domain family, member 24;
NM_001199107.2(TBC1D24):c.378C>T (p.Pro126=)57465TBC1D24Likely benign765624033RCV000937980; NMONDO:MONDO:0010632,MedGen:C3463992,OMIM:308350; MONDO:MONDO:0014470,MedGen:C3892048,OMIM:616044, Orphanet:90635; MedGen:CN236805162546527254652716:g.2546527C>T-
NM_001199107.2(TBC1D24):c.379G>A (p.Asp127Asn)57465TBC1D24Uncertain significance750962753RCV000189684|RCV001857660|RCV003165424; NMedGen:CN517202|MONDO:MONDO:0010632,MedGen:C3463992,OMIM:308350; MONDO:MONDO:0014470,MedGen:C3892048,OMIM:616044, Orphanet:90635; MedGen:CN236805|MeSH:D030342,MedGen:C09501231625465282546528NC_000016.9:g.2546528G>AClinGen:CA319020CN169374 not specified;
NM_001199107.2(TBC1D24):c.380A>G (p.Asp127Gly)57465TBC1D24Uncertain significance-1RCV002829204; NMONDO:MONDO:0014470,MedGen:C3892048,OMIM:616044, Orphanet:90635; MedGen:CN236805; MONDO:MONDO:0010632,MedGen:C3463992,OMIM:3083501625465292546529NC_000016.9:g.2546529A>G-
NM_001199107.2(TBC1D24):c.381C>A (p.Asp127Glu)57465TBC1D24Uncertain significance1376844321RCV001204061|RCV002314403; NMONDO:MONDO:0014470,MedGen:C3892048,OMIM:616044, Orphanet:90635; MONDO:MONDO:0010632,MedGen:C3463992,OMIM:308350; MedGen:CN236805|MeSH:D030342,MedGen:C09501231625465302546530NC_000016.9:g.2546530C>A-
NM_001199107.2(TBC1D24):c.384C>T (p.Ile128=)57465TBC1D24Likely benign754479878RCV001502431|RCV002368526; NMONDO:MONDO:0010632,MedGen:C3463992,OMIM:308350; MedGen:CN236805; MONDO:MONDO:0014470,MedGen:C3892048,OMIM:616044, Orphanet:90635|MeSH:D030342,MedGen:C095012316254653325465332546533-
NM_001199107.2(TBC1D24):c.384C>G (p.Ile128Met)57465TBC1D24Uncertain significance754479878RCV002044975; NMONDO:MONDO:0010632,MedGen:C3463992,OMIM:308350; MONDO:MONDO:0014470,MedGen:C3892048,OMIM:616044, Orphanet:90635; MedGen:CN23680516254653325465332546533-
NM_001199107.2(TBC1D24):c.393C>G (p.Cys131Trp)57465TBC1D24Uncertain significance777604231RCV001206289; NMONDO:MONDO:0014470,MedGen:C3892048,OMIM:616044, Orphanet:90635; MedGen:CN236805; MONDO:MONDO:0010632,MedGen:C3463992,OMIM:308350162546542254654216:g.2546542C>G-
NM_001199107.2(TBC1D24):c.394C>T (p.Pro132Ser)57465TBC1D24Likely pathogenic1489466696RCV001047523; NMONDO:MONDO:0010632,MedGen:C3463992,OMIM:308350; MONDO:MONDO:0014470,MedGen:C3892048,OMIM:616044, Orphanet:90635; MedGen:CN236805162546543254654316:g.2546543C>T-
NM_001199107.2(TBC1D24):c.396C>T (p.Pro132=)57465TBC1D24Likely benign371937830RCV002316016|RCV002060905; NMeSH:D030342,MedGen:C0950123|MONDO:MONDO:0014470,MedGen:C3892048,OMIM:616044, Orphanet:90635; MONDO:MONDO:0010632,MedGen:C3463992,OMIM:308350; MedGen:CN2368051625465452546545NC_000016.9:g.2546545C>T-
NM_001199107.2(TBC1D24):c.397G>A (p.Ala133Thr)57465TBC1D24Uncertain significance770787878RCV001064365; NMedGen:CN236805; MONDO:MONDO:0010632,MedGen:C3463992,OMIM:308350; MONDO:MONDO:0014470,MedGen:C3892048,OMIM:616044, Orphanet:90635162546546254654616:g.2546546G>A-
NM_001199107.2(TBC1D24):c.397G>T (p.Ala133Ser)57465TBC1D24Uncertain significance-1RCV002967568; NMedGen:CN236805; MONDO:MONDO:0010632,MedGen:C3463992,OMIM:308350; MONDO:MONDO:0014470,MedGen:C3892048,OMIM:616044, Orphanet:906351625465462546546NC_000016.9:g.2546546G>T-
NM_001199107.2(TBC1D24):c.398C>T (p.Ala133Val)57465TBC1D24Uncertain significance2065741608RCV001243881; NMONDO:MONDO:0010632,MedGen:C3463992,OMIM:308350; MedGen:CN236805; MONDO:MONDO:0014470,MedGen:C3892048,OMIM:616044, Orphanet:90635162546547254654716:g.2546547C>T-
NM_001199107.2(TBC1D24):c.400C>T (p.Leu134=)57465TBC1D24Conflicting interpretations of pathogenicity2065741660RCV002118420|RCV003426347; NMONDO:MONDO:0014470,MedGen:C3892048,OMIM:616044, Orphanet:90635; MONDO:MONDO:0010632,MedGen:C3463992,OMIM:308350; MedGen:CN236805|MedGen:C366190016254654925465492546549-
NM_001199107.2(TBC1D24):c.401T>C (p.Leu134Pro)57465TBC1D24Uncertain significance2065741689RCV001890749; NMedGen:CN236805; MONDO:MONDO:0010632,MedGen:C3463992,OMIM:308350; MONDO:MONDO:0014470,MedGen:C3892048,OMIM:616044, Orphanet:9063516254655025465502546550-
NM_001199107.2(TBC1D24):c.404C>T (p.Pro135Leu)57465TBC1D24Conflicting interpretations of pathogenicity1057519630RCV000417201|RCV000417203|RCV000802244|RCV001848740|RCV003258807; NHuman Phenotype Ontology:HP:0001300,MedGen:C0242422|MedGen:CN240682|MedGen:CN236805; MONDO:MONDO:0014470,MedGen:C3892048,OMIM:616044, Orphanet:90635; MONDO:MONDO:0010632,MedGen:C3463992,OMIM:308350|MONDO:MONDO:0009079,MedGen:C0795934,OMIM:220500, Orphanet:31625465532546553NC_000016.9:g.2546553C>TClinGen:CA16044430CN240682 Autosomal dominant epilepsy;
NM_001199107.2(TBC1D24):c.405G>A (p.Pro135=)57465TBC1D24Likely benign778663250RCV000463847|RCV003424021; NMONDO:MONDO:0010632,MedGen:C3463992,OMIM:308350; MONDO:MONDO:0014470,MedGen:C3892048,OMIM:616044, Orphanet:90635; MedGen:CN236805|MedGen:C36619001625465542546554NC_000016.9:g.2546554G>AClinGen:CA7843993C3809181 Caused by mutation in the TBC1 domain family, member 24;
NM_001199107.2(TBC1D24):c.408C>T (p.Ala136=)57465TBC1D24Conflicting interpretations of pathogenicity3810796RCV000419071|RCV001120422|RCV002061536; NMedGen:CN169374|MONDO:MONDO:0011506,MedGen:C0917800,OMIM:605021, Orphanet:352582|MedGen:CN236805; MONDO:MONDO:0010632,MedGen:C3463992,OMIM:308350; MONDO:MONDO:0014470,MedGen:C3892048,OMIM:616044, Orphanet:90635162546557254655716:g.2546557C>TClinGen:CA7843994CN169374 not specified;
NM_001199107.2(TBC1D24):c.409G>A (p.Val137Met)57465TBC1D24Uncertain significance200263150RCV001056760|RCV003141991|RCV003283923; NMONDO:MONDO:0010632,MedGen:C3463992,OMIM:308350; MONDO:MONDO:0014470,MedGen:C3892048,OMIM:616044, Orphanet:90635; MedGen:CN236805|MedGen:CN517202|MeSH:D030342,MedGen:C0950123162546558254655816:g.2546558G>A-
NM_001199107.2(TBC1D24):c.409G>T (p.Val137Leu)57465TBC1D24Uncertain significance200263150RCV001068547; NMedGen:CN236805; MONDO:MONDO:0010632,MedGen:C3463992,OMIM:308350; MONDO:MONDO:0014470,MedGen:C3892048,OMIM:616044, Orphanet:90635162546558254655816:g.2546558G>T-
NM_001199107.2(TBC1D24):c.414G>A (p.Val138=)57465TBC1D24Benign/Likely benign1015174831RCV000651569|RCV001707849; NMONDO:MONDO:0014470,MedGen:C3892048,OMIM:616044, Orphanet:90635; MONDO:MONDO:0010632,MedGen:C3463992,OMIM:308350; MedGen:CN236805|MedGen:CN517202162546563254656316:g.2546563G>AClinGen:CA276809624C3809181 Caused by mutation in the TBC1 domain family, member 24;
NM_001199107.2(TBC1D24):c.415G>A (p.Ala139Thr)57465TBC1D24Uncertain significance565087939RCV001927271; NMONDO:MONDO:0010632,MedGen:C3463992,OMIM:308350; MONDO:MONDO:0014470,MedGen:C3892048,OMIM:616044, Orphanet:90635; MedGen:CN23680516254656425465642546564-
NM_001199107.2(TBC1D24):c.417C>A (p.Ala139=)57465TBC1D24Likely benign-1RCV002851781; NMONDO:MONDO:0014470,MedGen:C3892048,OMIM:616044, Orphanet:90635; MedGen:CN236805; MONDO:MONDO:0010632,MedGen:C3463992,OMIM:3083501625465662546566-
NM_001199107.2(TBC1D24):c.418C>G (p.Leu140Val)57465TBC1D24Uncertain significance1274130724RCV001218681|RCV001799518; NMONDO:MONDO:0010632,MedGen:C3463992,OMIM:308350; MONDO:MONDO:0014470,MedGen:C3892048,OMIM:616044, Orphanet:90635; MedGen:CN236805|MONDO:MONDO:0014470,MedGen:C3892048,OMIM:616044, Orphanet:90635162546567254656716:g.2546567C>G-
NM_001199107.2(TBC1D24):c.418C>T (p.Leu140=)57465TBC1D24Likely benign-1RCV003056252; NMONDO:MONDO:0014470,MedGen:C3892048,OMIM:616044, Orphanet:90635; MedGen:CN236805; MONDO:MONDO:0010632,MedGen:C3463992,OMIM:3083501625465672546567-
NM_001199107.2(TBC1D24):c.420G>A (p.Leu140=)57465TBC1D24Likely benign1400165650RCV002096348|RCV003408123; NMedGen:CN236805; MONDO:MONDO:0014470,MedGen:C3892048,OMIM:616044, Orphanet:90635; MONDO:MONDO:0010632,MedGen:C3463992,OMIM:308350|MedGen:C366190016254656925465692546569-
NM_001199107.2(TBC1D24):c.431A>G (p.Tyr144Cys)57465TBC1D24Uncertain significance1596968109RCV000815016; NMONDO:MONDO:0014470,MedGen:C3892048,OMIM:616044, Orphanet:90635; MedGen:CN236805; MONDO:MONDO:0010632,MedGen:C3463992,OMIM:308350162546580254658016:g.2546580A>G-
NM_001199107.2(TBC1D24):c.434G>A (p.Ser145Asn)57465TBC1D24Uncertain significance2141871675RCV002045003; NMONDO:MONDO:0010632,MedGen:C3463992,OMIM:308350; MONDO:MONDO:0014470,MedGen:C3892048,OMIM:616044, Orphanet:90635; MedGen:CN23680516254658325465832546583-
NM_001199107.2(TBC1D24):c.438C>T (p.Ile146=)57465TBC1D24Likely benign776944981RCV001394362; NMedGen:CN236805; MONDO:MONDO:0010632,MedGen:C3463992,OMIM:308350; MONDO:MONDO:0014470,MedGen:C3892048,OMIM:616044, Orphanet:9063516254658725465872546587-
NM_001199107.2(TBC1D24):c.439G>C (p.Asp147His)57465TBC1D24Pathogenic267607103RCV000000065|RCV001851500; NMONDO:MONDO:0011506,MedGen:C0917800,OMIM:605021, Orphanet:352582|MONDO:MONDO:0014470,MedGen:C3892048,OMIM:616044, Orphanet:90635; MedGen:CN236805; MONDO:MONDO:0010632,MedGen:C3463992,OMIM:308350162546588254658816:g.2546588G>CClinGen:CA339785,UniProtKB:Q9ULP9#VAR_064365,OMIM:613577.0001C0917800 605021 Myoclonic epilepsy, familial infantile;
NM_001199107.2(TBC1D24):c.439G>A (p.Asp147Asn)57465TBC1D24Uncertain significance267607103RCV000221106|RCV000690744|RCV001120423|RCV001843495|RCV002503862; NMedGen:CN169374|MONDO:MONDO:0010632,MedGen:C3463992,OMIM:308350; MedGen:CN236805; MONDO:MONDO:0014470,MedGen:C3892048,OMIM:616044, Orphanet:90635|MONDO:MONDO:0011506,MedGen:C0917800,OMIM:605021, Orphanet:352582|MedGen:CN517202|6 conditions1625465882546588NC_000016.9:g.2546588G>AClinGen:CA7844000C3809181 Caused by mutation in the TBC1 domain family, member 24;
NM_001199107.2(TBC1D24):c.441C>T (p.Asp147=)57465TBC1D24Benign/Likely benign149371169RCV000175684|RCV000546672|RCV001120424|RCV001311422|RCV002312950; NMedGen:CN169374|MONDO:MONDO:0010632,MedGen:C3463992,OMIM:308350; MedGen:CN236805; MONDO:MONDO:0014470,MedGen:C3892048,OMIM:616044, Orphanet:90635|MONDO:MONDO:0011506,MedGen:C0917800,OMIM:605021, Orphanet:352582|MedGen:C3661900|MeSH:D030342,MedGen:C09501231625465902546590NC_000016.9:g.2546590C>TClinGen:CA302805C3809181 Caused by mutation in the TBC1 domain family, member 24;
NM_001199107.2(TBC1D24):c.442G>T (p.Glu148Ter)57465TBC1D24Pathogenic763626059RCV000760799|RCV002533848; NMedGen:CN517202|MONDO:MONDO:0010632,MedGen:C3463992,OMIM:308350; MONDO:MONDO:0014470,MedGen:C3892048,OMIM:616044, Orphanet:90635; MedGen:CN2368051625465912546591NC_000016.9:g.2546591G>T-
NM_001199107.2(TBC1D24):c.442G>A (p.Glu148Lys)57465TBC1D24Conflicting interpretations of pathogenicity763626059RCV000996170|RCV001377220; NMedGen:C3661900|MONDO:MONDO:0014470,MedGen:C3892048,OMIM:616044, Orphanet:90635; MONDO:MONDO:0010632,MedGen:C3463992,OMIM:308350; MedGen:CN236805162546591254659116:g.2546591G>A-
NM_001199107.2(TBC1D24):c.446C>T (p.Ala149Val)57465TBC1D24Uncertain significance2065742678RCV001365304; NMONDO:MONDO:0010632,MedGen:C3463992,OMIM:308350; MONDO:MONDO:0014470,MedGen:C3892048,OMIM:616044, Orphanet:90635; MedGen:CN23680516254659525465952546595-
NM_001199107.2(TBC1D24):c.447C>T (p.Ala149=)57465TBC1D24Likely benign755794991RCV000517453|RCV000863886|RCV001591173|RCV002316472; NMedGen:CN169374|MONDO:MONDO:0010632,MedGen:C3463992,OMIM:308350; MONDO:MONDO:0014470,MedGen:C3892048,OMIM:616044, Orphanet:90635; MedGen:CN236805|MedGen:C3661900|MeSH:D030342,MedGen:C0950123162546596254659616:g.2546596C>TClinGen:CA7844005CN169374 not specified;
NM_001199107.2(TBC1D24):c.455T>C (p.Phe152Ser)57465TBC1D24Uncertain significance-1RCV002303864; NMONDO:MONDO:0014470,MedGen:C3892048,OMIM:616044, Orphanet:90635; MONDO:MONDO:0010632,MedGen:C3463992,OMIM:308350; MedGen:CN23680516254660425466042546604-
NM_001199107.2(TBC1D24):c.456C>T (p.Phe152=)57465TBC1D24Likely benign2065742840RCV001489551; NMONDO:MONDO:0010632,MedGen:C3463992,OMIM:308350; MONDO:MONDO:0014470,MedGen:C3892048,OMIM:616044, Orphanet:90635; MedGen:CN23680516254660525466052546605-
NM_001199107.2(TBC1D24):c.457G>A (p.Glu153Lys)57465TBC1D24Conflicting interpretations of pathogenicity376712059RCV000189685|RCV000558935|RCV000614904|RCV000850506|RCV000995887|RCV002311285|RCV002468572; NMedGen:C3661900|MONDO:MONDO:0014470,MedGen:C3892048,OMIM:616044, Orphanet:90635; MONDO:MONDO:0010632,MedGen:C3463992,OMIM:308350; MedGen:CN236805|MedGen:C5680250, Orphanet:96210|MONDO:MONDO:0009079,MedGen:C0795934,OMIM:220500, Orphanet:3231, Orphanet:79500; MO1625466062546606NC_000016.9:g.2546606G>AClinGen:CA319022C3809181 Caused by mutation in the TBC1 domain family, member 24;
NM_001199107.2(TBC1D24):c.458A>C (p.Glu153Ala)57465TBC1D24Uncertain significance1424074905RCV000811444; NMONDO:MONDO:0010632,MedGen:C3463992,OMIM:308350; MedGen:CN236805; MONDO:MONDO:0014470,MedGen:C3892048,OMIM:616044, Orphanet:90635162546607254660716:g.2546607A>C-
NM_001199107.2(TBC1D24):c.458A>G (p.Glu153Gly)57465TBC1D24Uncertain significance-1RCV002966161; NMedGen:CN236805; MONDO:MONDO:0010632,MedGen:C3463992,OMIM:308350; MONDO:MONDO:0014470,MedGen:C3892048,OMIM:616044, Orphanet:906351625466072546607NC_000016.9:g.2546607A>G-
NM_001199107.2(TBC1D24):c.459G>C (p.Glu153Asp)57465TBC1D24Uncertain significance1169312508RCV001347846; NMedGen:CN236805; MONDO:MONDO:0014470,MedGen:C3892048,OMIM:616044, Orphanet:90635; MONDO:MONDO:0010632,MedGen:C3463992,OMIM:30835016254660825466082546608-
NM_001199107.2(TBC1D24):c.461A>G (p.Lys154Arg)57465TBC1D24Uncertain significance-1RCV002298238; NMONDO:MONDO:0014470,MedGen:C3892048,OMIM:616044, Orphanet:90635; MONDO:MONDO:0010632,MedGen:C3463992,OMIM:308350; MedGen:CN23680516254661025466102546610-
NM_001199107.2(TBC1D24):c.465C>T (p.Ala155=)57465TBC1D24Likely benign1596968205RCV001497638; NMONDO:MONDO:0010632,MedGen:C3463992,OMIM:308350; MONDO:MONDO:0014470,MedGen:C3892048,OMIM:616044, Orphanet:90635; MedGen:CN236805162546614254661416:g.2546614C>T-
NM_001199107.2(TBC1D24):c.470G>A (p.Arg157His)57465TBC1D24Uncertain significance1301489148RCV002318297|RCV002533057; NMeSH:D030342,MedGen:C0950123|MedGen:CN236805; MONDO:MONDO:0010632,MedGen:C3463992,OMIM:308350; MONDO:MONDO:0014470,MedGen:C3892048,OMIM:616044, Orphanet:906351625466192546619NC_000016.9:g.2546619G>A-
NM_001199107.2(TBC1D24):c.475del (p.Leu159fs)57465TBC1D24Pathogenic/Likely pathogenic796053403RCV000189694|RCV000624622|RCV001217724; NMedGen:CN517202|MeSH:D030342,MedGen:C0950123|MONDO:MONDO:0010632,MedGen:C3463992,OMIM:308350; MONDO:MONDO:0014470,MedGen:C3892048,OMIM:616044, Orphanet:90635; MedGen:CN236805162546623254662316:g.2546623_2546623delClinGen:CA319047C0950123 Inborn genetic diseases;
NM_001199107.2(TBC1D24):c.477G>C (p.Leu159=)57465TBC1D24Conflicting interpretations of pathogenicity-1RCV002612616|RCV003232830; NMONDO:MONDO:0010632,MedGen:C3463992,OMIM:308350; MedGen:CN236805; MONDO:MONDO:0014470,MedGen:C3892048,OMIM:616044, Orphanet:90635|MedGen:CN5172021625466262546626-
NM_001199107.2(TBC1D24):c.478G>T (p.Ala160Ser)57465TBC1D24Uncertain significance1277641753RCV001327541; NMONDO:MONDO:0010632,MedGen:C3463992,OMIM:308350; MedGen:CN236805; MONDO:MONDO:0014470,MedGen:C3892048,OMIM:616044, Orphanet:9063516254662725466272546627-
NM_001199107.2(TBC1D24):c.483C>A (p.Cys161Ter)57465TBC1D24Pathogenic/Likely pathogenic745800110RCV000579339|RCV001388446|RCV003235298; NMedGen:CN517202|MONDO:MONDO:0010632,MedGen:C3463992,OMIM:308350; MedGen:CN236805; MONDO:MONDO:0014470,MedGen:C3892048,OMIM:616044, Orphanet:90635|162546632254663216:g.2546632C>AClinGen:CA7844009CN517202 not provided;
NM_001199107.2(TBC1D24):c.485A>G (p.Asn162Ser)57465TBC1D24Uncertain significance772054145RCV000602701|RCV000796640|RCV000993242|RCV002529356; NMedGen:CN169374|MONDO:MONDO:0010632,MedGen:C3463992,OMIM:308350; MedGen:CN236805; MONDO:MONDO:0014470,MedGen:C3892048,OMIM:616044, Orphanet:90635|MedGen:CN517202|MeSH:D030342,MedGen:C09501231625466342546634NC_000016.9:g.2546634A>GClinGen:CA7844010CN169374 not specified;
NM_001199107.2(TBC1D24):c.486T>A (p.Asn162Lys)57465TBC1D24Uncertain significance886051845RCV000405478|RCV001850687; NMONDO:MONDO:0011506,MedGen:C0917800,OMIM:605021, Orphanet:352582|MedGen:CN236805; MONDO:MONDO:0010632,MedGen:C3463992,OMIM:308350; MONDO:MONDO:0014470,MedGen:C3892048,OMIM:616044, Orphanet:906351625466352546635NC_000016.9:g.2546635T>AClinGen:CA10647225C0917800 605021 Myoclonic epilepsy, familial infantile;
NM_001199107.2(TBC1D24):c.492C>G (p.Pro164=)57465TBC1D24Conflicting interpretations of pathogenicity369172908RCV000429223|RCV000861086|RCV001120425|RCV003422396; NMedGen:CN169374|MedGen:CN236805; MONDO:MONDO:0010632,MedGen:C3463992,OMIM:308350; MONDO:MONDO:0014470,MedGen:C3892048,OMIM:616044, Orphanet:90635|MONDO:MONDO:0011506,MedGen:C0917800,OMIM:605021, Orphanet:352582|MedGen:C3661900162546641254664116:g.2546641C>GClinGen:CA7844012CN169374 not specified;
NM_001199107.2(TBC1D24):c.492C>T (p.Pro164=)57465TBC1D24Likely benign369172908RCV001698060|RCV002066878; NMedGen:C3661900|MONDO:MONDO:0010632,MedGen:C3463992,OMIM:308350; MONDO:MONDO:0014470,MedGen:C3892048,OMIM:616044, Orphanet:90635; MedGen:CN236805162546641254664116:g.2546641C>TClinGen:CA7844011CN169374 not specified;
NM_001199107.2(TBC1D24):c.493G>A (p.Gly165Ser)57465TBC1D24Conflicting interpretations of pathogenicity200926225RCV000189669|RCV000466794|RCV000660402|RCV001535427|RCV002314766; NMedGen:CN169374|MONDO:MONDO:0014470,MedGen:C3892048,OMIM:616044, Orphanet:90635; MONDO:MONDO:0010632,MedGen:C3463992,OMIM:308350; MedGen:CN236805|MONDO:MONDO:0014133,MedGen:C3809173,OMIM:615338, Orphanet:293181, Orphanet:352596|MedGen:C3661900|MeSH:D030342,M1625466422546642NC_000016.9:g.2546642G>AClinGen:CA318989C3809181 Caused by mutation in the TBC1 domain family, member 24;
NM_001199107.2(TBC1D24):c.495C>G (p.Gly165=)57465TBC1D24Likely benign776661155RCV001452739; NMONDO:MONDO:0010632,MedGen:C3463992,OMIM:308350; MONDO:MONDO:0014470,MedGen:C3892048,OMIM:616044, Orphanet:90635; MedGen:CN23680516254664425466442546644-
NM_001199107.2(TBC1D24):c.503T>C (p.Leu168Pro)57465TBC1D24Uncertain significance770847294RCV001321656; NMONDO:MONDO:0010632,MedGen:C3463992,OMIM:308350; MedGen:CN236805; MONDO:MONDO:0014470,MedGen:C3892048,OMIM:616044, Orphanet:9063516254665225466522546652-
NM_001199107.2(TBC1D24):c.507C>T (p.Ile169=)57465TBC1D24Likely benign529104933RCV000863579; NMedGen:CN236805; MONDO:MONDO:0010632,MedGen:C3463992,OMIM:308350; MONDO:MONDO:0014470,MedGen:C3892048,OMIM:616044, Orphanet:90635162546656254665616:g.2546656C>T-
NM_001199107.2(TBC1D24):c.508G>A (p.Asp170Asn)57465TBC1D24Uncertain significance-1RCV003016915; NMONDO:MONDO:0014470,MedGen:C3892048,OMIM:616044, Orphanet:90635; MONDO:MONDO:0010632,MedGen:C3463992,OMIM:308350; MedGen:CN2368051625466572546657NC_000016.9:g.2546657G>A-
NM_001199107.2(TBC1D24):c.519C>T (p.Phe173=)57465TBC1D24Likely benign763534843RCV000651577; NMONDO:MONDO:0014470,MedGen:C3892048,OMIM:616044, Orphanet:90635; MONDO:MONDO:0010632,MedGen:C3463992,OMIM:308350; MedGen:CN236805162546668254666816:g.2546668C>TClinGen:CA7844017C3809181 Caused by mutation in the TBC1 domain family, member 24;
NM_001199107.2(TBC1D24):c.524C>A (p.Ala175Asp)57465TBC1D24Uncertain significance2065744128RCV001059304; NMONDO:MONDO:0010632,MedGen:C3463992,OMIM:308350; MONDO:MONDO:0014470,MedGen:C3892048,OMIM:616044, Orphanet:90635; MedGen:CN236805162546673254667316:g.2546673C>A-
NM_001199107.2(TBC1D24):c.524C>G (p.Ala175Gly)57465TBC1D24Uncertain significance2065744128RCV001985469; NMedGen:CN236805; MONDO:MONDO:0010632,MedGen:C3463992,OMIM:308350; MONDO:MONDO:0014470,MedGen:C3892048,OMIM:616044, Orphanet:9063516254667325466732546673-
NM_001199107.2(TBC1D24):c.530A>G (p.Glu177Gly)57465TBC1D24Uncertain significance767035291RCV001346897|RCV002350641; NMONDO:MONDO:0014470,MedGen:C3892048,OMIM:616044, Orphanet:90635; MONDO:MONDO:0010632,MedGen:C3463992,OMIM:308350; MedGen:CN236805|MeSH:D030342,MedGen:C095012316254667925466792546679-
NM_001199107.2(TBC1D24):c.533C>G (p.Ser178Trp)57465TBC1D24Conflicting interpretations of pathogenicity483352866RCV001262528|RCV001880044; NMONDO:MONDO:0009079,MedGen:C0795934,OMIM:220500, Orphanet:3231, Orphanet:79500|MONDO:MONDO:0010632,MedGen:C3463992,OMIM:308350; MedGen:CN236805; MONDO:MONDO:0014470,MedGen:C3892048,OMIM:616044, Orphanet:90635162546682254668216:g.2546682C>G-
NM_001199107.2(TBC1D24):c.534G>A (p.Ser178=)57465TBC1D24Likely benign144714321RCV000868790|RCV001545096; NMONDO:MONDO:0010632,MedGen:C3463992,OMIM:308350; MONDO:MONDO:0014470,MedGen:C3892048,OMIM:616044, Orphanet:90635; MedGen:CN236805|MedGen:C3661900162546683254668316:g.2546683G>A-
NM_001199107.2(TBC1D24):c.545C>T (p.Thr182Met)57465TBC1D24Uncertain significance763670146RCV002010265|RCV002243504; NMedGen:CN236805; MONDO:MONDO:0010632,MedGen:C3463992,OMIM:308350; MONDO:MONDO:0014470,MedGen:C3892048,OMIM:616044, Orphanet:90635|MedGen:C366190016254669425466942546694-
NM_001199107.2(TBC1D24):c.546G>A (p.Thr182=)57465TBC1D24Likely benign182825122RCV000457558|RCV001718880|RCV002318396; NMedGen:CN236805; MONDO:MONDO:0014470,MedGen:C3892048,OMIM:616044, Orphanet:90635; MONDO:MONDO:0010632,MedGen:C3463992,OMIM:308350|MedGen:C3661900|MeSH:D030342,MedGen:C0950123162546695254669516:g.2546695G>AClinGen:CA7844022C3809181 Caused by mutation in the TBC1 domain family, member 24;
NM_001199107.2(TBC1D24):c.554_559del (p.Asp185_Leu186del)57465TBC1D24Uncertain significance1215641557RCV000518349|RCV001374043; NMedGen:CN517202|MedGen:CN236805; MONDO:MONDO:0014470,MedGen:C3892048,OMIM:616044, Orphanet:90635; MONDO:MONDO:0010632,MedGen:C3463992,OMIM:308350162546701254670616:g.2546701_2546706delClinGen:CA620709064CN169374 not specified;
NM_001199107.2(TBC1D24):c.555C>T (p.Asp185=)57465TBC1D24Likely benign-1RCV002835258; NMONDO:MONDO:0014470,MedGen:C3892048,OMIM:616044, Orphanet:90635; MedGen:CN236805; MONDO:MONDO:0010632,MedGen:C3463992,OMIM:3083501625467042546704-
NM_001199107.2(TBC1D24):c.556C>G (p.Leu186Val)57465TBC1D24Uncertain significance1555501245RCV000530446; NMONDO:MONDO:0014470,MedGen:C3892048,OMIM:616044, Orphanet:90635; MONDO:MONDO:0010632,MedGen:C3463992,OMIM:308350; MedGen:CN2368051625467052546705NC_000016.9:g.2546705C>GClinGen:CA394376544C3809181 Caused by mutation in the TBC1 domain family, member 24;
NM_001199107.2(TBC1D24):c.578C>T (p.Ala193Val)57465TBC1D24Uncertain significance750266156RCV000189687|RCV002514070; NMedGen:CN517202|MONDO:MONDO:0010632,MedGen:C3463992,OMIM:308350; MONDO:MONDO:0014470,MedGen:C3892048,OMIM:616044, Orphanet:90635; MedGen:CN236805162546727254672716:g.2546727C>TClinGen:CA319027CN169374 not specified;
NM_001199107.2(TBC1D24):c.587A>G (p.Lys196Arg)57465TBC1D24Uncertain significance758299397RCV000651572; NMONDO:MONDO:0014470,MedGen:C3892048,OMIM:616044, Orphanet:90635; MONDO:MONDO:0010632,MedGen:C3463992,OMIM:308350; MedGen:CN236805162546736254673616:g.2546736A>GClinGen:CA7844025C3809181 Caused by mutation in the TBC1 domain family, member 24;
NM_001199107.2(TBC1D24):c.592A>T (p.Met198Leu)57465TBC1D24Uncertain significance779920318RCV001301785; NMONDO:MONDO:0010632,MedGen:C3463992,OMIM:308350; MONDO:MONDO:0014470,MedGen:C3892048,OMIM:616044, Orphanet:90635; MedGen:CN23680516254674125467412546741-
NM_001199107.2(TBC1D24):c.600C>T (p.Ala200=)57465TBC1D24Likely benign-1RCV002586101; NMedGen:CN236805; MONDO:MONDO:0014470,MedGen:C3892048,OMIM:616044, Orphanet:90635; MONDO:MONDO:0010632,MedGen:C3463992,OMIM:3083501625467492546749-
NM_001199107.2(TBC1D24):c.601G>A (p.Val201Met)57465TBC1D24Uncertain significance537705878RCV001205328; NMedGen:CN236805; MONDO:MONDO:0014470,MedGen:C3892048,OMIM:616044, Orphanet:90635; MONDO:MONDO:0010632,MedGen:C3463992,OMIM:308350162546750254675016:g.2546750G>A-
NM_001199107.2(TBC1D24):c.606G>A (p.Ser202=)57465TBC1D24Conflicting interpretations of pathogenicity61731478RCV000703963|RCV000728728; NMedGen:CN236805; MONDO:MONDO:0010632,MedGen:C3463992,OMIM:308350; MONDO:MONDO:0014470,MedGen:C3892048,OMIM:616044, Orphanet:90635|MedGen:CN5172021625467552546755NC_000016.9:g.2546755G>A-C3809181 Caused by mutation in the TBC1 domain family, member 24;
NM_001199107.2(TBC1D24):c.621G>C (p.Gln207His)57465TBC1D24Uncertain significance876658012RCV000221376|RCV001853488; NMedGen:CN169374|MONDO:MONDO:0010632,MedGen:C3463992,OMIM:308350; MedGen:CN236805; MONDO:MONDO:0014470,MedGen:C3892048,OMIM:616044, Orphanet:906351625467702546770NC_000016.9:g.2546770G>CClinGen:CA10577006CN169374 not specified;
NM_001199107.2(TBC1D24):c.622G>A (p.Val208Ile)57465TBC1D24Uncertain significance1355375251RCV000693876|RCV001555810; NMedGen:CN236805; MONDO:MONDO:0010632,MedGen:C3463992,OMIM:308350; MONDO:MONDO:0014470,MedGen:C3892048,OMIM:616044, Orphanet:90635|MedGen:CN5172021625467712546771NC_000016.9:g.2546771G>A-C3809181 Caused by mutation in the TBC1 domain family, member 24;
NM_001199107.2(TBC1D24):c.628G>A (p.Ala210Thr)57465TBC1D24Uncertain significance2141872095RCV001979928; NMONDO:MONDO:0014470,MedGen:C3892048,OMIM:616044, Orphanet:90635; MONDO:MONDO:0010632,MedGen:C3463992,OMIM:308350; MedGen:CN23680516254677725467772546777-
NM_001199107.2(TBC1D24):c.629C>T (p.Ala210Val)57465TBC1D24Uncertain significance771442254RCV001307263; NMONDO:MONDO:0010632,MedGen:C3463992,OMIM:308350; MONDO:MONDO:0014470,MedGen:C3892048,OMIM:616044, Orphanet:90635; MedGen:CN23680516254677825467782546778-
NM_001199107.2(TBC1D24):c.630G>A (p.Ala210=)57465TBC1D24Benign/Likely benign776459372RCV000189670|RCV000542896; NMedGen:CN169374|MONDO:MONDO:0010632,MedGen:C3463992,OMIM:308350; MONDO:MONDO:0014470,MedGen:C3892048,OMIM:616044, Orphanet:90635; MedGen:CN2368051625467792546779NC_000016.9:g.2546779G>AClinGen:CA318991C3809181 Caused by mutation in the TBC1 domain family, member 24;
NM_001199107.2(TBC1D24):c.631G>A (p.Asp211Asn)57465TBC1D24Uncertain significance-1RCV002891067; NMedGen:CN236805; MONDO:MONDO:0010632,MedGen:C3463992,OMIM:308350; MONDO:MONDO:0014470,MedGen:C3892048,OMIM:616044, Orphanet:906351625467802546780NC_000016.9:g.2546780G>A-
NM_001199107.2(TBC1D24):c.632A>G (p.Asp211Gly)57465TBC1D24Uncertain significance1596968508RCV000822179; NMONDO:MONDO:0014470,MedGen:C3892048,OMIM:616044, Orphanet:90635; MedGen:CN236805; MONDO:MONDO:0010632,MedGen:C3463992,OMIM:308350162546781254678116:g.2546781A>G-
NM_001199107.2(TBC1D24):c.636G>A (p.Trp212Ter)57465TBC1D24Pathogenic2141872114RCV002002392; NMONDO:MONDO:0010632,MedGen:C3463992,OMIM:308350; MedGen:CN236805; MONDO:MONDO:0014470,MedGen:C3892048,OMIM:616044, Orphanet:9063516254678525467852546785-
NM_001199107.2(TBC1D24):c.642_793del (p.Trp215fs)57465TBC1D24Pathogenic2141872119RCV001384532|RCV002265993; NMedGen:CN236805; MONDO:MONDO:0014470,MedGen:C3892048,OMIM:616044, Orphanet:90635; MONDO:MONDO:0010632,MedGen:C3463992,OMIM:308350|MONDO:MONDO:0011506,MedGen:C0917800,OMIM:605021, Orphanet:352582; MONDO:MONDO:0011970,MedGen:C1842531,OMIM:608105, Orphanet:1637216254678625469372546785-
NM_001199107.2(TBC1D24):c.639G>C (p.Gln213His)57465TBC1D24Uncertain significance1223160118RCV001575289|RCV002569078; NMedGen:C3661900|MONDO:MONDO:0014470,MedGen:C3892048,OMIM:616044, Orphanet:90635; MedGen:CN236805; MONDO:MONDO:0010632,MedGen:C3463992,OMIM:30835016254678825467882546788-
NM_001199107.2(TBC1D24):c.640C>T (p.Arg214Cys)57465TBC1D24Uncertain significance760121083RCV000559852|RCV002461329; NMONDO:MONDO:0014470,MedGen:C3892048,OMIM:616044, Orphanet:90635; MONDO:MONDO:0010632,MedGen:C3463992,OMIM:308350; MedGen:CN236805|MedGen:CN517202162546789254678916:g.2546789C>TClinGen:CA7844036C3809181 Caused by mutation in the TBC1 domain family, member 24;
NM_001199107.2(TBC1D24):c.648G>C (p.Leu216=)57465TBC1D24Likely benign571126287RCV000860860|RCV001483215; NMedGen:C3661900|MedGen:CN236805; MONDO:MONDO:0010632,MedGen:C3463992,OMIM:308350; MONDO:MONDO:0014470,MedGen:C3892048,OMIM:616044, Orphanet:90635162546797254679716:g.2546797G>CClinGen:CA16607235CN169374 not specified;
NM_001199107.2(TBC1D24):c.650T>A (p.Phe217Tyr)57465TBC1D24Uncertain significance1441237124RCV002042131; NMONDO:MONDO:0010632,MedGen:C3463992,OMIM:308350; MONDO:MONDO:0014470,MedGen:C3892048,OMIM:616044, Orphanet:90635; MedGen:CN23680516254679925467992546799-
NM_001199107.2(TBC1D24):c.651T>C (p.Phe217=)57465TBC1D24Likely benign750100459RCV000516622|RCV001484142; NMedGen:CN169374|MedGen:CN236805; MONDO:MONDO:0014470,MedGen:C3892048,OMIM:616044, Orphanet:90635; MONDO:MONDO:0010632,MedGen:C3463992,OMIM:308350162546800254680016:g.2546800T>CClinGen:CA7844040CN169374 not specified;
NM_001199107.2(TBC1D24):c.655G>A (p.Glu219Lys)57465TBC1D24Uncertain significance1159293544RCV001038764|RCV002466610; NMONDO:MONDO:0010632,MedGen:C3463992,OMIM:308350; MONDO:MONDO:0014470,MedGen:C3892048,OMIM:616044, Orphanet:90635; MedGen:CN236805|MedGen:CN517202162546804254680416:g.2546804G>A-
NM_001199107.2(TBC1D24):c.657G>A (p.Glu219=)57465TBC1D24Benign587781187RCV000128366|RCV000549549|RCV002362771; NMedGen:CN169374|MONDO:MONDO:0010632,MedGen:C3463992,OMIM:308350; MONDO:MONDO:0014470,MedGen:C3892048,OMIM:616044, Orphanet:90635; MedGen:CN236805|MeSH:D030342,MedGen:C09501231625468062546806NC_000016.9:g.2546806G>AClinGen:CA293863C3809181 Caused by mutation in the TBC1 domain family, member 24;
NM_001199107.2(TBC1D24):c.659T>C (p.Leu220Pro)57465TBC1D24Uncertain significance2065745991RCV001063830; NMedGen:CN236805; MONDO:MONDO:0010632,MedGen:C3463992,OMIM:308350; MONDO:MONDO:0014470,MedGen:C3892048,OMIM:616044, Orphanet:90635162546808254680816:g.2546808T>C-
NM_001199107.2(TBC1D24):c.663C>T (p.Pro221=)57465TBC1D24Benign/Likely benign148670169RCV000189671|RCV000234268|RCV001082845|RCV001115524|RCV002362992; NMedGen:CN169374|MedGen:C3661900|MONDO:MONDO:0010632,MedGen:C3463992,OMIM:308350; MedGen:CN236805; MONDO:MONDO:0014470,MedGen:C3892048,OMIM:616044, Orphanet:90635|MONDO:MONDO:0011506,MedGen:C0917800,OMIM:605021, Orphanet:352582|MeSH:D030342,MedGen:C0950123162546812254681216:g.2546812C>TClinGen:CA318993C3809181 Caused by mutation in the TBC1 domain family, member 24;
NM_001199107.2(TBC1D24):c.668_669delinsAA (p.Cys223Ter)57465TBC1D24Pathogenic-1RCV002730425; NMONDO:MONDO:0014470,MedGen:C3892048,OMIM:616044, Orphanet:90635; MedGen:CN236805; MONDO:MONDO:0010632,MedGen:C3463992,OMIM:3083501625468172546818NC_000016.9:g.2546817_2546818delinsAA-
NM_001199107.2(TBC1D24):c.676G>A (p.Ala226Thr)57465TBC1D24Uncertain significance796053401RCV000189689|RCV001852515|RCV002514071; NMedGen:CN517202|MONDO:MONDO:0010632,MedGen:C3463992,OMIM:308350; MONDO:MONDO:0014470,MedGen:C3892048,OMIM:616044, Orphanet:90635; MedGen:CN236805|MeSH:D030342,MedGen:C09501231625468252546825NC_000016.9:g.2546825G>AClinGen:CA319032CN169374 not specified;
NM_001199107.2(TBC1D24):c.679C>T (p.Arg227Trp)57465TBC1D24Conflicting interpretations of pathogenicity748302886RCV000492824|RCV000651568|RCV001196423|RCV002367670; NMedGen:CN517202|MONDO:MONDO:0010632,MedGen:C3463992,OMIM:308350; MedGen:CN236805; MONDO:MONDO:0014470,MedGen:C3892048,OMIM:616044, Orphanet:90635|MONDO:MONDO:0014470,MedGen:C3892048,OMIM:616044, Orphanet:90635|MeSH:D030342,MedGen:C0950123162546828254682816:g.2546828C>TClinGen:CA7844044C3809181 Caused by mutation in the TBC1 domain family, member 24;
NM_001199107.2(TBC1D24):c.680G>T (p.Arg227Leu)57465TBC1D24Pathogenic/Likely pathogenic756181906RCV000189690|RCV000623081|RCV001041353; NMedGen:CN517202|MeSH:D030342,MedGen:C0950123|MONDO:MONDO:0010632,MedGen:C3463992,OMIM:308350; MedGen:CN236805; MONDO:MONDO:0014470,MedGen:C3892048,OMIM:616044, Orphanet:90635162546829254682916:g.2546829G>TClinGen:CA319035C0950123 Inborn genetic diseases;
NM_001199107.2(TBC1D24):c.680G>A (p.Arg227Gln)57465TBC1D24Likely pathogenic756181906RCV001233778|RCV002291735; NMONDO:MONDO:0010632,MedGen:C3463992,OMIM:308350; MedGen:CN236805; MONDO:MONDO:0014470,MedGen:C3892048,OMIM:616044, Orphanet:90635|MedGen:C3661900162546829254682916:g.2546829G>A-
NM_001199107.2(TBC1D24):c.683T>A (p.Val228Asp)57465TBC1D24Uncertain significance-1RCV003075296; NMONDO:MONDO:0014470,MedGen:C3892048,OMIM:616044, Orphanet:90635; MedGen:CN236805; MONDO:MONDO:0010632,MedGen:C3463992,OMIM:3083501625468322546832NC_000016.9:g.2546832T>A-
NM_001199107.2(TBC1D24):c.686T>C (p.Phe229Ser)57465TBC1D24Pathogenic397514713RCV000050233|RCV001219030|RCV001557354; NMONDO:MONDO:0014133,MedGen:C3809173,OMIM:615338, Orphanet:293181, Orphanet:352596|MedGen:CN236805; MONDO:MONDO:0014470,MedGen:C3892048,OMIM:616044, Orphanet:90635; MONDO:MONDO:0010632,MedGen:C3463992,OMIM:308350|MedGen:C3661900162546835254683516:g.2546835T>CClinGen:CA344789,UniProtKB:Q9ULP9#VAR_070102,OMIM:613577.0005C3809173 615338 Early infantile epileptic encephalopathy 16;
NM_001199107.2(TBC1D24):c.690C>T (p.Asp230=)57465TBC1D24Likely benign749531792RCV001441296; NMedGen:CN236805; MONDO:MONDO:0010632,MedGen:C3463992,OMIM:308350; MONDO:MONDO:0014470,MedGen:C3892048,OMIM:616044, Orphanet:90635162546839254683916:g.2546839C>T-
NM_001199107.2(TBC1D24):c.691G>A (p.Val231Ile)57465TBC1D24Uncertain significance370614433RCV001954749; NMONDO:MONDO:0010632,MedGen:C3463992,OMIM:308350; MONDO:MONDO:0014470,MedGen:C3892048,OMIM:616044, Orphanet:90635; MedGen:CN23680516254684025468402546840-
NM_001199107.2(TBC1D24):c.702G>A (p.Val234=)57465TBC1D24Conflicting interpretations of pathogenicity188739853RCV000189672|RCV000315247|RCV000762179|RCV001083954|RCV002362993; NMedGen:CN169374|MONDO:MONDO:0011506,MedGen:C0917800,OMIM:605021, Orphanet:352582|MedGen:C3661900|MONDO:MONDO:0010632,MedGen:C3463992,OMIM:308350; MedGen:CN236805; MONDO:MONDO:0014470,MedGen:C3892048,OMIM:616044, Orphanet:90635|MeSH:D030342,MedGen:C0950123162546851254685116:g.2546851G>AClinGen:CA318996C3809181 Caused by mutation in the TBC1 domain family, member 24;
NM_001199107.2(TBC1D24):c.702G>C (p.Val234=)57465TBC1D24Likely benign188739853RCV000868631|RCV001532315; NMedGen:CN236805; MONDO:MONDO:0010632,MedGen:C3463992,OMIM:308350; MONDO:MONDO:0014470,MedGen:C3892048,OMIM:616044, Orphanet:90635|MedGen:C3661900162546851254685116:g.2546851G>CClinGen:CA7844049CN169374 not specified;
NM_001199107.2(TBC1D24):c.706G>A (p.Gly236Ser)57465TBC1D24Likely pathogenic1183009408RCV001969475; NMONDO:MONDO:0010632,MedGen:C3463992,OMIM:308350; MONDO:MONDO:0014470,MedGen:C3892048,OMIM:616044, Orphanet:90635; MedGen:CN23680516254685525468552546855-
NM_001199107.2(TBC1D24):c.715del (p.Val239fs)57465TBC1D24Pathogenic2141872348RCV001384860; NMedGen:CN236805; MONDO:MONDO:0014470,MedGen:C3892048,OMIM:616044, Orphanet:90635; MONDO:MONDO:0010632,MedGen:C3463992,OMIM:30835016254686325468632546862-
NM_001199107.2(TBC1D24):c.717G>A (p.Val239=)57465TBC1D24Likely benign-1RCV003093524; NMONDO:MONDO:0014470,MedGen:C3892048,OMIM:616044, Orphanet:90635; MedGen:CN236805; MONDO:MONDO:0010632,MedGen:C3463992,OMIM:3083501625468662546866-
NM_001199107.2(TBC1D24):c.721T>A (p.Tyr241Asn)57465TBC1D24Uncertain significance-1RCV003032397; NMedGen:CN236805; MONDO:MONDO:0010632,MedGen:C3463992,OMIM:308350; MONDO:MONDO:0014470,MedGen:C3892048,OMIM:616044, Orphanet:906351625468702546870NC_000016.9:g.2546870T>A-
NM_001199107.2(TBC1D24):c.725G>A (p.Arg242His)57465TBC1D24Pathogenic199744635RCV000823886; NMedGen:CN236805; MONDO:MONDO:0010632,MedGen:C3463992,OMIM:308350; MONDO:MONDO:0014470,MedGen:C3892048,OMIM:616044, Orphanet:90635162546874254687416:g.2546874G>A-
NM_001199107.2(TBC1D24):c.726C>T (p.Arg242=)57465TBC1D24Likely benign772786813RCV000557387; NMONDO:MONDO:0014470,MedGen:C3892048,OMIM:616044, Orphanet:90635; MONDO:MONDO:0010632,MedGen:C3463992,OMIM:308350; MedGen:CN2368051625468752546875NC_000016.9:g.2546875C>TClinGen:CA7844053C3809181 Caused by mutation in the TBC1 domain family, member 24;
NM_001199107.2(TBC1D24):c.727G>A (p.Val243Met)57465TBC1D24Uncertain significance762660491RCV000537969|RCV001553366|RCV002384239; NMONDO:MONDO:0014470,MedGen:C3892048,OMIM:616044, Orphanet:90635; MONDO:MONDO:0010632,MedGen:C3463992,OMIM:308350; MedGen:CN236805|MedGen:CN517202|MeSH:D030342,MedGen:C09501231625468762546876NC_000016.9:g.2546876G>AClinGen:CA7844054C3809181 Caused by mutation in the TBC1 domain family, member 24;
NM_001199107.2(TBC1D24):c.731C>A (p.Ala244Glu)57465TBC1D24Uncertain significance375873110RCV000696311; NMedGen:CN236805; MONDO:MONDO:0010632,MedGen:C3463992,OMIM:308350; MONDO:MONDO:0014470,MedGen:C3892048,OMIM:616044, Orphanet:906351625468802546880NC_000016.9:g.2546880C>A-C3809181 Caused by mutation in the TBC1 domain family, member 24;
NM_001199107.2(TBC1D24):c.732G>A (p.Ala244=)57465TBC1D24Likely benign554758752RCV001397914|RCV001587395|RCV002384572; NMONDO:MONDO:0014470,MedGen:C3892048,OMIM:616044, Orphanet:90635; MedGen:CN236805; MONDO:MONDO:0010632,MedGen:C3463992,OMIM:308350|MedGen:C3661900|MeSH:D030342,MedGen:C095012316254688125468812546881-
NM_001199107.2(TBC1D24):c.746A>T (p.Lys249Met)57465TBC1D24Uncertain significance-1RCV002634290; NMONDO:MONDO:0010632,MedGen:C3463992,OMIM:308350; MedGen:CN236805; MONDO:MONDO:0014470,MedGen:C3892048,OMIM:616044, Orphanet:906351625468952546895NC_000016.9:g.2546895A>T-
NM_001199107.2(TBC1D24):c.752del (p.Phe251fs)57465TBC1D24Pathogenic766769998RCV001951260; NMedGen:CN236805; MONDO:MONDO:0010632,MedGen:C3463992,OMIM:308350; MONDO:MONDO:0014470,MedGen:C3892048,OMIM:616044, Orphanet:9063516254690025469002546899-
NM_001199107.2(TBC1D24):c.759G>A (p.Lys253=)57465TBC1D24Likely benign190306450RCV000816578|RCV000828676|RCV002390662; NMONDO:MONDO:0014470,MedGen:C3892048,OMIM:616044, Orphanet:90635; MONDO:MONDO:0010632,MedGen:C3463992,OMIM:308350; MedGen:CN236805|MedGen:C3661900|MeSH:D030342,MedGen:C0950123162546908254690816:g.2546908G>A-
NM_001199107.2(TBC1D24):c.759G>C (p.Lys253Asn)57465TBC1D24Uncertain significance190306450RCV002011861; NMONDO:MONDO:0014470,MedGen:C3892048,OMIM:616044, Orphanet:90635; MONDO:MONDO:0010632,MedGen:C3463992,OMIM:308350; MedGen:CN23680516254690825469082546908-
NM_001199107.2(TBC1D24):c.768C>T (p.Ala256=)57465TBC1D24Likely benign778001053RCV002095889; NMONDO:MONDO:0010632,MedGen:C3463992,OMIM:308350; MONDO:MONDO:0014470,MedGen:C3892048,OMIM:616044, Orphanet:90635; MedGen:CN23680516254691725469172546917-
NM_001199107.2(TBC1D24):c.769G>T (p.Gly257Trp)57465TBC1D24Uncertain significance1440897868RCV001307664; NMONDO:MONDO:0010632,MedGen:C3463992,OMIM:308350; MONDO:MONDO:0014470,MedGen:C3892048,OMIM:616044, Orphanet:90635; MedGen:CN23680516254691825469182546918-
NM_001199107.2(TBC1D24):c.769G>A (p.Gly257Arg)57465TBC1D24Uncertain significance-1RCV003067083; NMONDO:MONDO:0014470,MedGen:C3892048,OMIM:616044, Orphanet:90635; MedGen:CN236805; MONDO:MONDO:0010632,MedGen:C3463992,OMIM:3083501625469182546918NC_000016.9:g.2546918G>A-
NM_001199107.2(TBC1D24):c.776C>A (p.Pro259Gln)57465TBC1D24Uncertain significance779398267RCV000503445|RCV001227340; NMedGen:CN169374|MONDO:MONDO:0010632,MedGen:C3463992,OMIM:308350; MedGen:CN236805; MONDO:MONDO:0014470,MedGen:C3892048,OMIM:616044, Orphanet:906351625469252546925NC_000016.9:g.2546925C>AClinGen:CA394377273CN169374 not specified;
NM_001199107.2(TBC1D24):c.777G>A (p.Pro259=)57465TBC1D24Likely benign-1RCV003069931; NMONDO:MONDO:0014470,MedGen:C3892048,OMIM:616044, Orphanet:90635; MedGen:CN236805; MONDO:MONDO:0010632,MedGen:C3463992,OMIM:3083501625469262546926-
NM_001199107.2(TBC1D24):c.777G>T (p.Pro259=)57465TBC1D24Likely benign-1RCV003069601; NMONDO:MONDO:0014470,MedGen:C3892048,OMIM:616044, Orphanet:90635; MedGen:CN236805; MONDO:MONDO:0010632,MedGen:C3463992,OMIM:3083501625469262546926-
NM_001199107.2(TBC1D24):c.781G>C (p.Glu261Gln)57465TBC1D24Uncertain significance2065747894RCV001297085; NMONDO:MONDO:0014470,MedGen:C3892048,OMIM:616044, Orphanet:90635; MONDO:MONDO:0010632,MedGen:C3463992,OMIM:308350; MedGen:CN23680516254693025469302546930-
NM_001199107.2(TBC1D24):c.785C>T (p.Ser262Leu)57465TBC1D24Benign/Likely benign201060500RCV000175685|RCV000427762|RCV001086285|RCV002408765; NMedGen:CN169374|MedGen:C3661900|MedGen:CN236805; MONDO:MONDO:0010632,MedGen:C3463992,OMIM:308350; MONDO:MONDO:0014470,MedGen:C3892048,OMIM:616044, Orphanet:90635|MeSH:D030342,MedGen:C0950123162546934254693416:g.2546934C>TClinGen:CA201586C3809181 Caused by mutation in the TBC1 domain family, member 24;
NM_001199107.2(TBC1D24):c.786G>A (p.Ser262=)57465TBC1D24Likely benign371064617RCV001412133; NMedGen:CN236805; MONDO:MONDO:0010632,MedGen:C3463992,OMIM:308350; MONDO:MONDO:0014470,MedGen:C3892048,OMIM:616044, Orphanet:9063516254693525469352546935-
NM_001199107.2(TBC1D24):c.787G>C (p.Asp263His)57465TBC1D24Uncertain significance2065747955RCV001349924; NMONDO:MONDO:0014470,MedGen:C3892048,OMIM:616044, Orphanet:90635; MONDO:MONDO:0010632,MedGen:C3463992,OMIM:308350; MedGen:CN23680516254693625469362546936-
NM_001199107.2(TBC1D24):c.792C>T (p.Ser264=)57465TBC1D24Likely benign769290045RCV000614562|RCV000981353; NMedGen:CN169374|MONDO:MONDO:0010632,MedGen:C3463992,OMIM:308350; MedGen:CN236805; MONDO:MONDO:0014470,MedGen:C3892048,OMIM:616044, Orphanet:906351625469412546941NC_000016.9:g.2546941C>TClinGen:CA7844070CN169374 not specified;
NM_001199107.2(TBC1D24):c.793G>A (p.Val265Met)57465TBC1D24Uncertain significance772768393RCV000351381|RCV000431132|RCV000822115; NMONDO:MONDO:0011506,MedGen:C0917800,OMIM:605021, Orphanet:352582|MedGen:CN517202|MedGen:CN236805; MONDO:MONDO:0010632,MedGen:C3463992,OMIM:308350; MONDO:MONDO:0014470,MedGen:C3892048,OMIM:616044, Orphanet:906351625469422546942NC_000016.9:g.2546942G>AClinGen:CA7844071C0917800 605021 Myoclonic epilepsy, familial infantile;
NM_001199107.2(TBC1D24):c.793G>T (p.Val265Leu)57465TBC1D24Uncertain significance772768393RCV001934030; NMedGen:CN236805; MONDO:MONDO:0010632,MedGen:C3463992,OMIM:308350; MONDO:MONDO:0014470,MedGen:C3892048,OMIM:616044, Orphanet:9063516254694225469422546942-
NM_001199107.2(TBC1D24):c.800A>G (p.Gln267Arg)57465TBC1D24Uncertain significance1004946712RCV002030394; NMONDO:MONDO:0010632,MedGen:C3463992,OMIM:308350; MedGen:CN236805; MONDO:MONDO:0014470,MedGen:C3892048,OMIM:616044, Orphanet:9063516254694925469492546949-
NM_001199107.2(TBC1D24):c.805A>G (p.Ile269Val)57465TBC1D24Uncertain significance1417808543RCV001303365; NMONDO:MONDO:0010632,MedGen:C3463992,OMIM:308350; MONDO:MONDO:0014470,MedGen:C3892048,OMIM:616044, Orphanet:90635; MedGen:CN23680516254695425469542546954-
NM_001199107.2(TBC1D24):c.806del (p.Ile269fs)57465TBC1D24Pathogenic2141872499RCV001959014; NMedGen:CN236805; MONDO:MONDO:0010632,MedGen:C3463992,OMIM:308350; MONDO:MONDO:0014470,MedGen:C3892048,OMIM:616044, Orphanet:9063516254695525469552546954-
NM_001199107.2(TBC1D24):c.807C>G (p.Ile269Met)57465TBC1D24Uncertain significance762576413RCV000651567; NMONDO:MONDO:0014470,MedGen:C3892048,OMIM:616044, Orphanet:90635; MONDO:MONDO:0010632,MedGen:C3463992,OMIM:308350; MedGen:CN236805162546956254695616:g.2546956C>GClinGen:CA394377415C3809181 Caused by mutation in the TBC1 domain family, member 24;
NM_001199107.2(TBC1D24):c.808C>T (p.Arg270Cys)57465TBC1D24Uncertain significance375860324RCV000550470|RCV001755896|RCV002491097; NMONDO:MONDO:0014470,MedGen:C3892048,OMIM:616044, Orphanet:90635; MONDO:MONDO:0010632,MedGen:C3463992,OMIM:308350; MedGen:CN236805|MedGen:CN517202|6 conditions1625469572546957NC_000016.9:g.2546957C>TClinGen:CA7844073C3809181 Caused by mutation in the TBC1 domain family, member 24;
NM_001199107.2(TBC1D24):c.809G>A (p.Arg270His)57465TBC1D24Conflicting interpretations of pathogenicity545689324RCV000499717|RCV001066985; NMONDO:MONDO:0011506,MedGen:C0917800,OMIM:605021, Orphanet:352582|MONDO:MONDO:0010632,MedGen:C3463992,OMIM:308350; MONDO:MONDO:0014470,MedGen:C3892048,OMIM:616044, Orphanet:90635; MedGen:CN2368051625469582546958NC_000016.9:g.2546958G>AClinGen:CA7844074C0917800 605021 Myoclonic epilepsy, familial infantile;
NM_001199107.2(TBC1D24):c.811A>G (p.Thr271Ala)57465TBC1D24Conflicting interpretations of pathogenicity-1RCV002421272|RCV003099843; NMeSH:D030342,MedGen:C0950123|MONDO:MONDO:0014470,MedGen:C3892048,OMIM:616044, Orphanet:90635; MONDO:MONDO:0010632,MedGen:C3463992,OMIM:308350; MedGen:CN23680516254696025469602546960-
NM_001199107.2(TBC1D24):c.812C>T (p.Thr271Met)57465TBC1D24Uncertain significance1328684138RCV001914054; NMONDO:MONDO:0014470,MedGen:C3892048,OMIM:616044, Orphanet:90635; MONDO:MONDO:0010632,MedGen:C3463992,OMIM:308350; MedGen:CN23680516254696125469612546961-
NM_001199107.2(TBC1D24):c.813G>A (p.Thr271=)57465TBC1D24Likely benign527719763RCV001498328|RCV001655574|RCV002316166; NMONDO:MONDO:0014470,MedGen:C3892048,OMIM:616044, Orphanet:90635; MONDO:MONDO:0010632,MedGen:C3463992,OMIM:308350; MedGen:CN236805|MedGen:C3661900|MeSH:D030342,MedGen:C09501231625469622546962NC_000016.9:g.2546962G>A-
NM_001199107.2(TBC1D24):c.816C>T (p.Phe272=)57465TBC1D24Likely benign796053402RCV001440198|RCV001575955; NMONDO:MONDO:0010632,MedGen:C3463992,OMIM:308350; MedGen:CN236805; MONDO:MONDO:0014470,MedGen:C3892048,OMIM:616044, Orphanet:90635|MedGen:C366190016254696525469652546965-
NM_001199107.2(TBC1D24):c.817G>A (p.Val273Ile)57465TBC1D24Uncertain significance752610561RCV000526417|RCV001815406; NMONDO:MONDO:0014470,MedGen:C3892048,OMIM:616044, Orphanet:90635; MedGen:CN236805; MONDO:MONDO:0010632,MedGen:C3463992,OMIM:308350|MedGen:C36619001625469662546966NC_000016.9:g.2546966G>AClinGen:CA7844077C3809181 Caused by mutation in the TBC1 domain family, member 24;
NM_001199107.2(TBC1D24):c.820A>G (p.Arg274Gly)57465TBC1D24Uncertain significance760591932RCV000523657|RCV001851481; NMedGen:CN517202|MedGen:CN236805; MONDO:MONDO:0014470,MedGen:C3892048,OMIM:616044, Orphanet:90635; MONDO:MONDO:0010632,MedGen:C3463992,OMIM:308350162546969254696916:g.2546969A>GClinGen:CA7844078CN169374 not specified;
NM_001199107.2(TBC1D24):c.820_822del (p.Arg274del)57465TBC1D24Uncertain significance2141872549RCV001369409; NMONDO:MONDO:0010632,MedGen:C3463992,OMIM:308350; MONDO:MONDO:0014470,MedGen:C3892048,OMIM:616044, Orphanet:90635; MedGen:CN23680516254696925469712546968-
NM_001199107.2(TBC1D24):c.824A>G (p.Asp275Gly)57465TBC1D24Uncertain significance2141872557RCV001951754; NMedGen:CN236805; MONDO:MONDO:0010632,MedGen:C3463992,OMIM:308350; MONDO:MONDO:0014470,MedGen:C3892048,OMIM:616044, Orphanet:9063516254697325469732546973-
NM_001199107.2(TBC1D24):c.828C>T (p.Ile276=)57465TBC1D24Likely benign764252146RCV001465688|RCV001550639; NMONDO:MONDO:0010632,MedGen:C3463992,OMIM:308350; MedGen:CN236805; MONDO:MONDO:0014470,MedGen:C3892048,OMIM:616044, Orphanet:90635|MedGen:C366190016254697725469772546977-
NM_001199107.2(TBC1D24):c.828C>G (p.Ile276Met)57465TBC1D24Uncertain significance-1RCV002695759; NMONDO:MONDO:0014470,MedGen:C3892048,OMIM:616044, Orphanet:90635; MedGen:CN236805; MONDO:MONDO:0010632,MedGen:C3463992,OMIM:3083501625469772546977NC_000016.9:g.2546977C>G-
NM_001199107.2(TBC1D24):c.829G>T (p.Ala277Ser)57465TBC1D24Uncertain significance754019727RCV000478093|RCV001294761; NMedGen:CN517202|MONDO:MONDO:0010632,MedGen:C3463992,OMIM:308350; MONDO:MONDO:0014470,MedGen:C3892048,OMIM:616044, Orphanet:90635; MedGen:CN236805162546978254697816:g.2546978G>TClinGen:CA16620169CN169374 not specified;
NM_001199107.2(TBC1D24):c.829G>A (p.Ala277Thr)57465TBC1D24Uncertain significance754019727RCV000538988|RCV002316579; NMONDO:MONDO:0010632,MedGen:C3463992,OMIM:308350; MONDO:MONDO:0014470,MedGen:C3892048,OMIM:616044, Orphanet:90635; MedGen:CN236805|MeSH:D030342,MedGen:C09501231625469782546978NC_000016.9:g.2546978G>AClinGen:CA7844080C3809181 Caused by mutation in the TBC1 domain family, member 24;
NM_001199107.2(TBC1D24):c.830C>T (p.Ala277Val)57465TBC1D24Uncertain significance909267678RCV001304295; NMONDO:MONDO:0010632,MedGen:C3463992,OMIM:308350; MONDO:MONDO:0014470,MedGen:C3892048,OMIM:616044, Orphanet:90635; MedGen:CN23680516254697925469792546979-
NM_001199107.2(TBC1D24):c.831G>A (p.Ala277=)57465TBC1D24Likely benign-1RCV002604469; NMedGen:CN236805; MONDO:MONDO:0014470,MedGen:C3892048,OMIM:616044, Orphanet:90635; MONDO:MONDO:0010632,MedGen:C3463992,OMIM:3083501625469802546980-
NM_001199107.2(TBC1D24):c.838G>A (p.Val280Met)57465TBC1D24Uncertain significance867618745RCV002037209|RCV002545288; NMONDO:MONDO:0010632,MedGen:C3463992,OMIM:308350; MedGen:CN236805; MONDO:MONDO:0014470,MedGen:C3892048,OMIM:616044, Orphanet:90635|MeSH:D030342,MedGen:C095012316254698725469872546987-
NM_001199107.2(TBC1D24):c.841T>C (p.Ser281Pro)57465TBC1D24Uncertain significance-1RCV002609712; NMedGen:CN236805; MONDO:MONDO:0014470,MedGen:C3892048,OMIM:616044, Orphanet:90635; MONDO:MONDO:0010632,MedGen:C3463992,OMIM:3083501625469902546990NC_000016.9:g.2546990T>C-
NM_001199107.2(TBC1D24):c.845C>G (p.Pro282Arg)57465TBC1D24Conflicting interpretations of pathogenicity747538224RCV000189692|RCV000254691|RCV000469036|RCV000623272|RCV000678853|RCV001330478; NMedGen:CN169374|MedGen:CN517202|MONDO:MONDO:0010632,MedGen:C3463992,OMIM:308350; MONDO:MONDO:0014470,MedGen:C3892048,OMIM:616044, Orphanet:90635; MedGen:CN236805|MeSH:D030342,MedGen:C0950123||MONDO:MONDO:0009079,MedGen:C0795934,OMIM:220500, Orphanet:3231,Or162546994254699416:g.2546994C>GClinGen:CA319041C3809181 Caused by mutation in the TBC1 domain family, member 24;
NM_001199107.2(TBC1D24):c.855G>T (p.Leu285=)57465TBC1D24Likely benign769201984RCV001439588; NMedGen:CN236805; MONDO:MONDO:0010632,MedGen:C3463992,OMIM:308350; MONDO:MONDO:0014470,MedGen:C3892048,OMIM:616044, Orphanet:9063516254700425470042547004-
NM_001199107.2(TBC1D24):c.855G>C (p.Leu285=)57465TBC1D24Likely benign769201984RCV002206664; NMONDO:MONDO:0014470,MedGen:C3892048,OMIM:616044, Orphanet:90635; MONDO:MONDO:0010632,MedGen:C3463992,OMIM:308350; MedGen:CN23680516254700425470042547004-
NM_001199107.2(TBC1D24):c.856C>G (p.Leu286Val)57465TBC1D24Uncertain significance775099094RCV001048200; NMONDO:MONDO:0010632,MedGen:C3463992,OMIM:308350; MONDO:MONDO:0014470,MedGen:C3892048,OMIM:616044, Orphanet:90635; MedGen:CN236805162547005254700516:g.2547005C>G-
NM_001199107.2(TBC1D24):c.864A>G (p.Lys288=)57465TBC1D24Likely benign777237669RCV000870697|RCV001532316|RCV002442853; NMONDO:MONDO:0010632,MedGen:C3463992,OMIM:308350; MONDO:MONDO:0014470,MedGen:C3892048,OMIM:616044, Orphanet:90635; MedGen:CN236805|MedGen:C3661900|MeSH:D030342,MedGen:C0950123162547013254701316:g.2547013A>G-
NM_001199107.2(TBC1D24):c.866C>T (p.Ala289Val)57465TBC1D24Likely pathogenic748759187RCV000501813|RCV001824142|RCV001857175; NMONDO:MONDO:0011506,MedGen:C0917800,OMIM:605021, Orphanet:352582|MONDO:MONDO:0014133,MedGen:C3809173,OMIM:615338, Orphanet:293181, Orphanet:352596|MONDO:MONDO:0010632,MedGen:C3463992,OMIM:308350; MedGen:CN236805; MONDO:MONDO:0014470,MedGen:C3892048,OMIM:61601625470152547015NC_000016.9:g.2547015C>TClinGen:CA394377660C0917800 605021 Myoclonic epilepsy, familial infantile;
NM_001199107.2(TBC1D24):c.867G>A (p.Ala289=)57465TBC1D24Likely benign1328290571RCV000605372|RCV002062141; NMedGen:CN169374|MONDO:MONDO:0010632,MedGen:C3463992,OMIM:308350; MedGen:CN236805; MONDO:MONDO:0014470,MedGen:C3892048,OMIM:616044, Orphanet:90635162547016254701616:g.2547016G>AClinGen:CA493367240CN169374 not specified;
NM_001199107.2(TBC1D24):c.870C>T (p.Phe290=)57465TBC1D24Likely benign770453630RCV001396819; NMONDO:MONDO:0014470,MedGen:C3892048,OMIM:616044, Orphanet:90635; MedGen:CN236805; MONDO:MONDO:0010632,MedGen:C3463992,OMIM:30835016254701925470192547019-
NM_001199107.2(TBC1D24):c.871G>A (p.Ala291Thr)57465TBC1D24Uncertain significance375307187RCV000189693|RCV000695988|RCV000765280|RCV001252363|RCV001818460|RCV002314768; NMedGen:C3661900|MONDO:MONDO:0014470,MedGen:C3892048,OMIM:616044, Orphanet:90635; MONDO:MONDO:0010632,MedGen:C3463992,OMIM:308350; MedGen:CN236805|MONDO:MONDO:0009079,MedGen:C0795934,OMIM:220500, Orphanet:3231, Orphanet:79500; MONDO:MONDO:0011506,MedGen:C091781625470202547020NC_000016.9:g.2547020G>AClinGen:CA319044C3809181 Caused by mutation in the TBC1 domain family, member 24;
NM_001199107.2(TBC1D24):c.878G>A (p.Arg293His)57465TBC1D24Uncertain significance199700840RCV000189706|RCV000551334|RCV000826046|RCV002317660|RCV002478665; NMedGen:C3661900|MONDO:MONDO:0014470,MedGen:C3892048,OMIM:616044, Orphanet:90635; MONDO:MONDO:0010632,MedGen:C3463992,OMIM:308350; MedGen:CN236805|MedGen:CN169374|MeSH:D030342,MedGen:C0950123|6 conditions1625470272547027NC_000016.9:g.2547027G>AClinGen:CA319076C3809181 Caused by mutation in the TBC1 domain family, member 24;
NM_001199107.2(TBC1D24):c.885C>G (p.Phe295Leu)57465TBC1D24Benign/Likely benign72768728RCV000128367|RCV000514759|RCV001115525|RCV001084415|RCV002312951; NMedGen:CN169374|MedGen:C3661900|MONDO:MONDO:0011506,MedGen:C0917800,OMIM:605021, Orphanet:352582|MONDO:MONDO:0010632,MedGen:C3463992,OMIM:308350; MedGen:CN236805; MONDO:MONDO:0014470,MedGen:C3892048,OMIM:616044, Orphanet:90635|MeSH:D030342,MedGen:C09501231625470342547034NC_000016.9:g.2547034C>GClinGen:CA293866,UniProtKB:Q9ULP9#VAR_070890C3809181 Caused by mutation in the TBC1 domain family, member 24;
NM_001199107.2(TBC1D24):c.889C>T (p.Arg297Cys)57465TBC1D24Uncertain significance1351414664RCV002012696|RCV003448445; NMONDO:MONDO:0010632,MedGen:C3463992,OMIM:308350; MONDO:MONDO:0014470,MedGen:C3892048,OMIM:616044, Orphanet:90635; MedGen:CN236805|MONDO:MONDO:0013826,MedGen:C2829265,OMIM:614617, Orphanet:9063616254703825470382547038-
NM_001199107.2(TBC1D24):c.890G>A (p.Arg297His)57465TBC1D24Uncertain significance760666914RCV000520838|RCV001064992; NMedGen:C3661900|MONDO:MONDO:0010632,MedGen:C3463992,OMIM:308350; MedGen:CN236805; MONDO:MONDO:0014470,MedGen:C3892048,OMIM:616044, Orphanet:90635162547039254703916:g.2547039G>AClinGen:CA276809641CN169374 not specified;
NM_001199107.2(TBC1D24):c.916G>A (p.Ala306Thr)57465TBC1D24Uncertain significance2141872755RCV001921979; NMedGen:CN236805; MONDO:MONDO:0010632,MedGen:C3463992,OMIM:308350; MONDO:MONDO:0014470,MedGen:C3892048,OMIM:616044, Orphanet:9063516254706525470652547065-
NM_001199107.2(TBC1D24):c.919A>C (p.Asn307His)57465TBC1D24Pathogenic1555501320RCV000578091|RCV002526008; NMONDO:MONDO:0014470,MedGen:C3892048,OMIM:616044, Orphanet:90635|MONDO:MONDO:0010632,MedGen:C3463992,OMIM:308350; MONDO:MONDO:0014470,MedGen:C3892048,OMIM:616044, Orphanet:90635; MedGen:CN236805162547068254706816:g.2547068A>CClinGen:CA394377931C3892048 616044 Deafness, autosomal dominant 65;
NM_001199107.2(TBC1D24):c.920A>G (p.Asn307Ser)57465TBC1D24Conflicting interpretations of pathogenicity761934676RCV000707641|RCV001195523|RCV001270076|RCV003392546; NMedGen:CN236805; MONDO:MONDO:0010632,MedGen:C3463992,OMIM:308350; MONDO:MONDO:0014470,MedGen:C3892048,OMIM:616044, Orphanet:90635|MedGen:CN169374|Human Phenotype Ontology:HP:0001336,Human Phenotype Ontology:HP:0002535,Human Phenotype Ontology:HP:0007087,Me162547069254706916:g.2547069A>G-C3809181 Caused by mutation in the TBC1 domain family, member 24;
NM_001199107.2(TBC1D24):c.929C>T (p.Ala310Val)57465TBC1D24Uncertain significance1160994039RCV001203105|RCV001773452; NMONDO:MONDO:0014470,MedGen:C3892048,OMIM:616044, Orphanet:90635; MedGen:CN236805; MONDO:MONDO:0010632,MedGen:C3463992,OMIM:308350|MedGen:CN517202162547078254707816:g.2547078C>T-
NM_001199107.2(TBC1D24):c.930C>T (p.Ala310=)57465TBC1D24Likely benign-1RCV003082452; NMONDO:MONDO:0014470,MedGen:C3892048,OMIM:616044, Orphanet:90635; MedGen:CN236805; MONDO:MONDO:0010632,MedGen:C3463992,OMIM:3083501625470792547079-
NM_001199107.2(TBC1D24):c.951C>T (p.Thr317=)57465TBC1D24Conflicting interpretations of pathogenicity766745103RCV000189673|RCV000397672|RCV000651581|RCV001815242|RCV002317659; NMedGen:CN169374|MONDO:MONDO:0011506,MedGen:C0917800,OMIM:605021, Orphanet:352582|MONDO:MONDO:0014470,MedGen:C3892048,OMIM:616044, Orphanet:90635; MONDO:MONDO:0010632,MedGen:C3463992,OMIM:308350; MedGen:CN236805|MedGen:C3661900|MeSH:D030342,MedGen:C09501231625471002547100NC_000016.9:g.2547100C>TClinGen:CA318998C3809181 Caused by mutation in the TBC1 domain family, member 24;
NM_001199107.2(TBC1D24):c.952G>A (p.Val318Met)57465TBC1D24Uncertain significance370233833RCV001358914; NMedGen:CN236805; MONDO:MONDO:0010632,MedGen:C3463992,OMIM:308350; MONDO:MONDO:0014470,MedGen:C3892048,OMIM:616044, Orphanet:9063516254710125471012547101-
NM_001199107.2(TBC1D24):c.955A>C (p.Lys319Gln)57465TBC1D24Uncertain significance2141872821RCV001969328; NMONDO:MONDO:0010632,MedGen:C3463992,OMIM:308350; MONDO:MONDO:0014470,MedGen:C3892048,OMIM:616044, Orphanet:90635; MedGen:CN23680516254710425471042547104-
NM_001199107.2(TBC1D24):c.963G>T (p.Lys321Asn)57465TBC1D24Uncertain significance2141872825RCV001996006; NMONDO:MONDO:0014470,MedGen:C3892048,OMIM:616044, Orphanet:90635; MONDO:MONDO:0010632,MedGen:C3463992,OMIM:308350; MedGen:CN23680516254711225471122547112-
NM_001199107.2(TBC1D24):c.965G>A (p.Ser322Asn)57465TBC1D24Uncertain significance1567412410RCV001862032|RCV002314531; NMONDO:MONDO:0014470,MedGen:C3892048,OMIM:616044, Orphanet:90635; MONDO:MONDO:0010632,MedGen:C3463992,OMIM:308350; MedGen:CN236805|MeSH:D030342,MedGen:C09501231625471142547114NC_000016.9:g.2547114G>A-
NM_001199107.2(TBC1D24):c.965+4G>C57465TBC1D24Uncertain significance781629915RCV002039632; NMONDO:MONDO:0010632,MedGen:C3463992,OMIM:308350; MONDO:MONDO:0014470,MedGen:C3892048,OMIM:616044, Orphanet:90635; MedGen:CN23680516254711825471182547118-
NM_001199107.2(TBC1D24):c.965+7C>T57465TBC1D24Likely benign1244113744RCV001492636; NMedGen:CN236805; MONDO:MONDO:0010632,MedGen:C3463992,OMIM:308350; MONDO:MONDO:0014470,MedGen:C3892048,OMIM:616044, Orphanet:9063516254712125471212547121-
NM_001199107.2(TBC1D24):c.965+8G>A57465TBC1D24Likely benign372247100RCV000417633|RCV001442102; NMedGen:CN169374|MONDO:MONDO:0014470,MedGen:C3892048,OMIM:616044, Orphanet:90635; MONDO:MONDO:0010632,MedGen:C3463992,OMIM:308350; MedGen:CN236805162547122254712216:g.2547122G>AClinGen:CA7844100CN169374 not specified;
NM_001199107.2(TBC1D24):c.965+8G>T57465TBC1D24Likely benign372247100RCV002214887; NMONDO:MONDO:0010632,MedGen:C3463992,OMIM:308350; MONDO:MONDO:0014470,MedGen:C3892048,OMIM:616044, Orphanet:90635; MedGen:CN23680516254712225471222547122-
NM_001199107.2(TBC1D24):c.965+10C>T57465TBC1D24Likely benign756687194RCV000651574; NMONDO:MONDO:0014470,MedGen:C3892048,OMIM:616044, Orphanet:90635; MONDO:MONDO:0010632,MedGen:C3463992,OMIM:308350; MedGen:CN2368051625471242547124NC_000016.9:g.2547124C>TClinGen:CA7844101C3809181 Caused by mutation in the TBC1 domain family, member 24;
NM_001199107.2(TBC1D24):c.965+11G>A57465TBC1D24Benign/Likely benign568663296RCV000189674|RCV001115526|RCV002054237; NMedGen:CN169374|MONDO:MONDO:0011506,MedGen:C0917800,OMIM:605021, Orphanet:352582|MONDO:MONDO:0010632,MedGen:C3463992,OMIM:308350; MedGen:CN236805; MONDO:MONDO:0014470,MedGen:C3892048,OMIM:616044, Orphanet:906351625471252547125NC_000016.9:g.2547125G>AClinGen:CA319001CN169374 not specified;
NM_001199107.2(TBC1D24):c.965+11G>C57465TBC1D24Likely benign568663296RCV002088934; NMONDO:MONDO:0010632,MedGen:C3463992,OMIM:308350; MONDO:MONDO:0014470,MedGen:C3892048,OMIM:616044, Orphanet:90635; MedGen:CN23680516254712525471252547125-
NM_001199107.2(TBC1D24):c.965+13C>T57465TBC1D24Uncertain significance531521557RCV001873024; NMONDO:MONDO:0010632,MedGen:C3463992,OMIM:308350; MedGen:CN236805; MONDO:MONDO:0014470,MedGen:C3892048,OMIM:616044, Orphanet:9063516254712725471272547127-
NM_001199107.2(TBC1D24):c.965+16C>G57465TBC1D24Likely benign2065750449RCV002194984; NMedGen:CN236805; MONDO:MONDO:0014470,MedGen:C3892048,OMIM:616044, Orphanet:90635; MONDO:MONDO:0010632,MedGen:C3463992,OMIM:30835016254713025471302547130-
NM_001199107.2(TBC1D24):c.965+16C>T57465TBC1D24Likely benign-1RCV002899089; NMedGen:CN236805; MONDO:MONDO:0010632,MedGen:C3463992,OMIM:308350; MONDO:MONDO:0014470,MedGen:C3892048,OMIM:616044, Orphanet:906351625471302547130NC_000016.9:g.2547130C>T-
NM_001199107.2(TBC1D24):c.965+17C>T57465TBC1D24Likely benign-1RCV002650139; NMONDO:MONDO:0014470,MedGen:C3892048,OMIM:616044, Orphanet:90635; MedGen:CN236805; MONDO:MONDO:0010632,MedGen:C3463992,OMIM:3083501625471312547131NC_000016.9:g.2547131C>T-
NM_001199107.2(TBC1D24):c.966-12_966-10del57465TBC1D24Likely benign2065755511RCV002097540; NMONDO:MONDO:0010632,MedGen:C3463992,OMIM:308350; MONDO:MONDO:0014470,MedGen:C3892048,OMIM:616044, Orphanet:90635; MedGen:CN23680516254769725476992547696-
NM_001199107.2(TBC1D24):c.966-11C>T57465TBC1D24Likely benign-1RCV003074742; NMONDO:MONDO:0014470,MedGen:C3892048,OMIM:616044, Orphanet:90635; MedGen:CN236805; MONDO:MONDO:0010632,MedGen:C3463992,OMIM:3083501625477002547700NC_000016.9:g.2547700C>T-
NM_001199107.2(TBC1D24):c.966-10T>A57465TBC1D24Uncertain significance1217245218RCV001927880; NMedGen:CN236805; MONDO:MONDO:0010632,MedGen:C3463992,OMIM:308350; MONDO:MONDO:0014470,MedGen:C3892048,OMIM:616044, Orphanet:9063516254770125477012547701-
NM_001199107.2(TBC1D24):c.969G>A (p.Val323=)57465TBC1D24Likely benign1054785696RCV000863695|RCV001433534; NMedGen:CN517202|MedGen:CN236805; MONDO:MONDO:0010632,MedGen:C3463992,OMIM:308350; MONDO:MONDO:0014470,MedGen:C3892048,OMIM:616044, Orphanet:90635162547714254771416:g.2547714G>A-
NM_001199107.2(TBC1D24):c.971C>T (p.Ser324Leu)57465TBC1D24Uncertain significance1567412736RCV001214066; NMONDO:MONDO:0010632,MedGen:C3463992,OMIM:308350; MONDO:MONDO:0014470,MedGen:C3892048,OMIM:616044, Orphanet:90635; MedGen:CN236805162547716254771616:g.2547716C>T-
NM_001199107.2(TBC1D24):c.972A>C (p.Ser324=)57465TBC1D24Conflicting interpretations of pathogenicity886043654RCV000297556|RCV002059222|RCV002374473; NMedGen:CN517202|MedGen:CN236805; MONDO:MONDO:0010632,MedGen:C3463992,OMIM:308350; MONDO:MONDO:0014470,MedGen:C3892048,OMIM:616044, Orphanet:90635|MeSH:D030342,MedGen:C0950123162547717254771716:g.2547717A>CClinGen:CA10605788CN169374 not specified;
NM_001199107.2(TBC1D24):c.977C>A (p.Ser326Tyr)57465TBC1D24Uncertain significance2141873571RCV001877900; NMONDO:MONDO:0010632,MedGen:C3463992,OMIM:308350; MedGen:CN236805; MONDO:MONDO:0014470,MedGen:C3892048,OMIM:616044, Orphanet:9063516254772225477222547722-
NM_001199107.2(TBC1D24):c.979A>T (p.Lys327Ter)57465TBC1D24Pathogenic2065755770RCV001890156; NMONDO:MONDO:0010632,MedGen:C3463992,OMIM:308350; MONDO:MONDO:0014470,MedGen:C3892048,OMIM:616044, Orphanet:90635; MedGen:CN23680516254772425477242547724-
NM_001199107.2(TBC1D24):c.983G>T (p.Arg328Met)57465TBC1D24Uncertain significance796053404RCV000189697|RCV001214067; NMedGen:CN517202|MONDO:MONDO:0010632,MedGen:C3463992,OMIM:308350; MONDO:MONDO:0014470,MedGen:C3892048,OMIM:616044, Orphanet:90635; MedGen:CN2368051625477282547728NC_000016.9:g.2547728G>TClinGen:CA319054CN169374 not specified;
NM_001199107.2(TBC1D24):c.983+1G>C57465TBC1D24Likely pathogenic2141873582RCV002045655; NMedGen:CN236805; MONDO:MONDO:0010632,MedGen:C3463992,OMIM:308350; MONDO:MONDO:0014470,MedGen:C3892048,OMIM:616044, Orphanet:9063516254772925477292547729-
NM_001199107.2(TBC1D24):c.983+2T>C57465TBC1D24Likely pathogenic1596969717RCV000814737; NMONDO:MONDO:0014470,MedGen:C3892048,OMIM:616044, Orphanet:90635; MedGen:CN236805; MONDO:MONDO:0010632,MedGen:C3463992,OMIM:308350162547730254773016:g.2547730T>C-
NM_001199107.2(TBC1D24):c.983+7C>T57465TBC1D24Benign/Likely benign778459711RCV000419706|RCV000527476; NMedGen:CN169374|MedGen:CN236805; MONDO:MONDO:0014470,MedGen:C3892048,OMIM:616044, Orphanet:90635; MONDO:MONDO:0010632,MedGen:C3463992,OMIM:308350162547735254773516:g.2547735C>TClinGen:CA7844118C3809181 Caused by mutation in the TBC1 domain family, member 24;
NM_001199107.2(TBC1D24):c.983+15_983+16del57465TBC1D24Likely benign1064794673RCV000480620|RCV002056781; NMedGen:CN169374|MONDO:MONDO:0010632,MedGen:C3463992,OMIM:308350; MONDO:MONDO:0014470,MedGen:C3892048,OMIM:616044, Orphanet:90635; MedGen:CN236805162547742254774316:g.2547742_2547743delClinGen:CA16620170CN169374 not specified;
NM_001199107.2(TBC1D24):c.983+15G>A57465TBC1D24Likely benign1172969040RCV002123401; NMONDO:MONDO:0014470,MedGen:C3892048,OMIM:616044, Orphanet:90635; MONDO:MONDO:0010632,MedGen:C3463992,OMIM:308350; MedGen:CN23680516254774325477432547743-
NM_001199107.2(TBC1D24):c.983+16T>A57465TBC1D24Likely benign1355546058RCV002094836; NMedGen:CN236805; MONDO:MONDO:0014470,MedGen:C3892048,OMIM:616044, Orphanet:90635; MONDO:MONDO:0010632,MedGen:C3463992,OMIM:30835016254774425477442547744-
NM_001199107.2(TBC1D24):c.983+19C>G57465TBC1D24Likely benign2141873600RCV002113625; NMONDO:MONDO:0014470,MedGen:C3892048,OMIM:616044, Orphanet:90635; MedGen:CN236805; MONDO:MONDO:0010632,MedGen:C3463992,OMIM:30835016254774725477472547747-
NM_001199107.2(TBC1D24):c.984-12C>T57465TBC1D24Likely benign762896980RCV002071132; NMONDO:MONDO:0014470,MedGen:C3892048,OMIM:616044, Orphanet:90635; MONDO:MONDO:0010632,MedGen:C3463992,OMIM:308350; MedGen:CN23680516254822725482272548227-
NM_001199107.2(TBC1D24):c.984-11G>A57465TBC1D24Likely benign1297656612RCV002183346; NMONDO:MONDO:0010632,MedGen:C3463992,OMIM:308350; MONDO:MONDO:0014470,MedGen:C3892048,OMIM:616044, Orphanet:90635; MedGen:CN23680516254822825482282548228-
NM_001199107.2(TBC1D24):c.984-7C>T57465TBC1D24Likely benign1432999070RCV001488828; NMONDO:MONDO:0010632,MedGen:C3463992,OMIM:308350; MONDO:MONDO:0014470,MedGen:C3892048,OMIM:616044, Orphanet:90635; MedGen:CN23680516254823225482322548232-
NM_001199107.2(TBC1D24):c.984-5C>T57465TBC1D24Likely benign535021783RCV001464940; NMONDO:MONDO:0010632,MedGen:C3463992,OMIM:308350; MedGen:CN236805; MONDO:MONDO:0014470,MedGen:C3892048,OMIM:616044, Orphanet:9063516254823425482342548234-
NM_001199107.2(TBC1D24):c.984G>A (p.Arg328=)57465TBC1D24Uncertain significance774492330RCV002029027; NMONDO:MONDO:0010632,MedGen:C3463992,OMIM:308350; MONDO:MONDO:0014470,MedGen:C3892048,OMIM:616044, Orphanet:90635; MedGen:CN23680516254823925482392548239-
NM_001199107.2(TBC1D24):c.991G>A (p.Val331Ile)57465TBC1D24Uncertain significance-1RCV002647974; NMONDO:MONDO:0010632,MedGen:C3463992,OMIM:308350; MedGen:CN236805; MONDO:MONDO:0014470,MedGen:C3892048,OMIM:616044, Orphanet:906351625482462548246NC_000016.9:g.2548246G>A-
NM_001199107.2(TBC1D24):c.994C>T (p.His332Tyr)57465TBC1D24Uncertain significance-1RCV002741237; NMONDO:MONDO:0014470,MedGen:C3892048,OMIM:616044, Orphanet:90635; MedGen:CN236805; MONDO:MONDO:0010632,MedGen:C3463992,OMIM:3083501625482492548249NC_000016.9:g.2548249C>T-
NM_001199107.2(TBC1D24):c.997T>G (p.Leu333Val)57465TBC1D24Uncertain significance753105655RCV001246621|RCV002564108|RCV003156328; NMONDO:MONDO:0010632,MedGen:C3463992,OMIM:308350; MedGen:CN236805; MONDO:MONDO:0014470,MedGen:C3892048,OMIM:616044, Orphanet:90635|MeSH:D030342,MedGen:C0950123|MedGen:CN517202162548252254825216:g.2548252T>G-
NM_001199107.2(TBC1D24):c.1002C>T (p.Ala334=)57465TBC1D24Benign/Likely benign184389316RCV000128368|RCV000311696|RCV000463587|RCV001528698|RCV002312952; NMedGen:CN169374|MONDO:MONDO:0011506,MedGen:C0917800,OMIM:605021, Orphanet:352582|MONDO:MONDO:0010632,MedGen:C3463992,OMIM:308350; MedGen:CN236805; MONDO:MONDO:0014470,MedGen:C3892048,OMIM:616044, Orphanet:90635|MedGen:C3661900|MeSH:D030342,MedGen:C09501231625482572548257NC_000016.9:g.2548257C>TClinGen:CA293869C3809181 Caused by mutation in the TBC1 domain family, member 24;
NM_001199107.2(TBC1D24):c.1002C>G (p.Ala334=)57465TBC1D24Likely benign184389316RCV002203706; NMONDO:MONDO:0010632,MedGen:C3463992,OMIM:308350; MONDO:MONDO:0014470,MedGen:C3892048,OMIM:616044, Orphanet:90635; MedGen:CN23680516254825725482572548257-
NM_001199107.2(TBC1D24):c.1003G>A (p.Val335Ile)57465TBC1D24Uncertain significance889668249RCV001344102; NMedGen:CN236805; MONDO:MONDO:0010632,MedGen:C3463992,OMIM:308350; MONDO:MONDO:0014470,MedGen:C3892048,OMIM:616044, Orphanet:9063516254825825482582548258-
NM_001199107.2(TBC1D24):c.1008del (p.His336fs)57465TBC1D24Pathogenic398122967RCV000076916|RCV000189708|RCV000470479|RCV001197830|RCV002426639|RCV003430660; NMONDO:MONDO:0009079,MedGen:C0795934,OMIM:220500, Orphanet:3231, Orphanet:79500|MedGen:C3661900|MONDO:MONDO:0010632,MedGen:C3463992,OMIM:308350; MedGen:CN236805; MONDO:MONDO:0014470,MedGen:C3892048,OMIM:616044, Orphanet:90635|MONDO:MONDO:0014470,MedGen:C38920162548263254826316:g.2548263_2548263delClinGen:CA319081,OMIM:613577.0010C3809181 Caused by mutation in the TBC1 domain family, member 24;
NM_001199107.2(TBC1D24):c.1008T>C (p.His336=)57465TBC1D24Likely benign961839071RCV001427356; NMONDO:MONDO:0014470,MedGen:C3892048,OMIM:616044, Orphanet:90635; MedGen:CN236805; MONDO:MONDO:0010632,MedGen:C3463992,OMIM:30835016254826325482632548263-
NM_001199107.2(TBC1D24):c.1010C>T (p.Ala337Val)57465TBC1D24Uncertain significance1192131861RCV001906006; NMONDO:MONDO:0010632,MedGen:C3463992,OMIM:308350; MedGen:CN236805; MONDO:MONDO:0014470,MedGen:C3892048,OMIM:616044, Orphanet:9063516254826525482652548265-
NM_001199107.2(TBC1D24):c.1015A>G (p.Asn339Asp)57465TBC1D24Conflicting interpretations of pathogenicity574768683RCV000118581|RCV000606977|RCV000811630|RCV003343646; NMedGen:C3661900|MedGen:CN169374|MedGen:CN236805; MONDO:MONDO:0010632,MedGen:C3463992,OMIM:308350; MONDO:MONDO:0014470,MedGen:C3892048,OMIM:616044, Orphanet:90635|MeSH:D030342,MedGen:C09501231625482702548270NC_000016.9:g.2548270A>GClinGen:CA231544CN517202 not provided;
NM_001199107.2(TBC1D24):c.1016A>C (p.Asn339Thr)57465TBC1D24Uncertain significance-1RCV002303724; NMONDO:MONDO:0014470,MedGen:C3892048,OMIM:616044, Orphanet:90635; MONDO:MONDO:0010632,MedGen:C3463992,OMIM:308350; MedGen:CN23680516254827125482712548271-
NM_001199107.2(TBC1D24):c.1020C>T (p.Phe340=)57465TBC1D24Likely benign200711801RCV001438393; NMedGen:CN236805; MONDO:MONDO:0010632,MedGen:C3463992,OMIM:308350; MONDO:MONDO:0014470,MedGen:C3892048,OMIM:616044, Orphanet:9063516254827525482752548275-
NM_001199107.2(TBC1D24):c.1021C>T (p.Arg341Cys)57465TBC1D24Uncertain significance1406095259RCV000818152; NMONDO:MONDO:0014470,MedGen:C3892048,OMIM:616044, Orphanet:90635; MedGen:CN236805; MONDO:MONDO:0010632,MedGen:C3463992,OMIM:308350162548276254827616:g.2548276C>T-
NM_001199107.2(TBC1D24):c.1022G>A (p.Arg341His)57465TBC1D24Conflicting interpretations of pathogenicity754727069RCV000427658|RCV000792934|RCV003278798; NMedGen:CN517202|MedGen:CN236805; MONDO:MONDO:0014470,MedGen:C3892048,OMIM:616044, Orphanet:90635; MONDO:MONDO:0010632,MedGen:C3463992,OMIM:308350|MeSH:D030342,MedGen:C09501231625482772548277NC_000016.9:g.2548277G>AClinGen:CA7844138CN169374 not specified;
NM_001199107.2(TBC1D24):c.1025C>G (p.Ser342Trp)57465TBC1D24Uncertain significance1159971280RCV001059169; NMONDO:MONDO:0010632,MedGen:C3463992,OMIM:308350; MONDO:MONDO:0014470,MedGen:C3892048,OMIM:616044, Orphanet:90635; MedGen:CN236805162548280254828016:g.2548280C>G-
NM_001199107.2(TBC1D24):c.1026G>A (p.Ser342=)57465TBC1D24Conflicting interpretations of pathogenicity370244846RCV000194890|RCV000585115|RCV001079337|RCV001115527|RCV002381657; NMedGen:CN169374|MedGen:C3661900|MONDO:MONDO:0014470,MedGen:C3892048,OMIM:616044, Orphanet:90635; MONDO:MONDO:0010632,MedGen:C3463992,OMIM:308350; MedGen:CN236805|MONDO:MONDO:0011506,MedGen:C0917800,OMIM:605021, Orphanet:352582|MeSH:D030342,MedGen:C0950123162548281254828116:g.2548281G>AClinGen:CA209353C3809181 Caused by mutation in the TBC1 domain family, member 24;
NM_001199107.2(TBC1D24):c.1026G>C (p.Ser342=)57465TBC1D24Likely benign370244846RCV002209816; NMONDO:MONDO:0010632,MedGen:C3463992,OMIM:308350; MedGen:CN236805; MONDO:MONDO:0014470,MedGen:C3892048,OMIM:616044, Orphanet:9063516254828125482812548281-
NM_001199107.2(TBC1D24):c.1028A>C (p.Glu343Ala)57465TBC1D24Uncertain significance188124777RCV000189698|RCV000651570|RCV000726073|RCV002381644; NMedGen:CN169374|MONDO:MONDO:0010632,MedGen:C3463992,OMIM:308350; MedGen:CN236805; MONDO:MONDO:0014470,MedGen:C3892048,OMIM:616044, Orphanet:90635|MedGen:C3661900|MeSH:D030342,MedGen:C09501231625482832548283NC_000016.9:g.2548283A>CClinGen:CA319056C3809181 Caused by mutation in the TBC1 domain family, member 24;
NM_001199107.2(TBC1D24):c.1030A>G (p.Ile344Val)57465TBC1D24Uncertain significance2141874280RCV001992167; NMONDO:MONDO:0010632,MedGen:C3463992,OMIM:308350; MedGen:CN236805; MONDO:MONDO:0014470,MedGen:C3892048,OMIM:616044, Orphanet:9063516254828525482852548285-
NM_001199107.2(TBC1D24):c.1032C>G (p.Ile344Met)57465TBC1D24Uncertain significance769656369RCV001227916; NMedGen:CN236805; MONDO:MONDO:0010632,MedGen:C3463992,OMIM:308350; MONDO:MONDO:0014470,MedGen:C3892048,OMIM:616044, Orphanet:90635162548287254828716:g.2548287C>G-
NM_001199107.2(TBC1D24):c.1033G>A (p.Val345Ile)57465TBC1D24Uncertain significance777515811RCV001973737; NMONDO:MONDO:0010632,MedGen:C3463992,OMIM:308350; MedGen:CN236805; MONDO:MONDO:0014470,MedGen:C3892048,OMIM:616044, Orphanet:9063516254828825482882548288-
NM_001199107.2(TBC1D24):c.1038C>T (p.Ser346=)57465TBC1D24Conflicting interpretations of pathogenicity377697825RCV000357060|RCV000438710|RCV000727318|RCV001087980|RCV002392866; NMONDO:MONDO:0011506,MedGen:C0917800,OMIM:605021, Orphanet:352582|MedGen:CN169374|MedGen:C3661900|MONDO:MONDO:0010632,MedGen:C3463992,OMIM:308350; MedGen:CN236805; MONDO:MONDO:0014470,MedGen:C3892048,OMIM:616044, Orphanet:90635|MeSH:D030342,MedGen:C09501231625482932548293NC_000016.9:g.2548293C>TClinGen:CA7844141C0917800 605021 Myoclonic epilepsy, familial infantile;
NM_001199107.2(TBC1D24):c.1039G>A (p.Val347Met)57465TBC1D24Uncertain significance371031447RCV000585341|RCV000690987; NMedGen:C3661900|MedGen:CN236805; MONDO:MONDO:0014470,MedGen:C3892048,OMIM:616044, Orphanet:90635; MONDO:MONDO:0010632,MedGen:C3463992,OMIM:308350162548294254829416:g.2548294G>AClinGen:CA7844142C3809181 Caused by mutation in the TBC1 domain family, member 24;
NM_001199107.2(TBC1D24):c.1049T>C (p.Met350Thr)57465TBC1D24Uncertain significance1475264921RCV000651564; NMONDO:MONDO:0014470,MedGen:C3892048,OMIM:616044, Orphanet:90635; MONDO:MONDO:0010632,MedGen:C3463992,OMIM:308350; MedGen:CN2368051625483042548304NC_000016.9:g.2548304T>CClinGen:CA394378661C3809181 Caused by mutation in the TBC1 domain family, member 24;
NM_001199107.2(TBC1D24):c.1052G>A (p.Arg351Lys)57465TBC1D24Uncertain significance375571181RCV001247549; NMONDO:MONDO:0010632,MedGen:C3463992,OMIM:308350; MedGen:CN236805; MONDO:MONDO:0014470,MedGen:C3892048,OMIM:616044, Orphanet:90635162548307254830716:g.2548307G>A-
NM_001199107.2(TBC1D24):c.1071C>T (p.Val357=)57465TBC1D24Likely benign760897479RCV001452092; NMONDO:MONDO:0010632,MedGen:C3463992,OMIM:308350; MedGen:CN236805; MONDO:MONDO:0014470,MedGen:C3892048,OMIM:616044, Orphanet:90635162548326254832616:g.2548326C>T-
NM_001199107.2(TBC1D24):c.1072C>A (p.Pro358Thr)57465TBC1D24Uncertain significance368150932RCV000699167|RCV000730515|RCV002533550; NMedGen:CN236805; MONDO:MONDO:0010632,MedGen:C3463992,OMIM:308350; MONDO:MONDO:0014470,MedGen:C3892048,OMIM:616044, Orphanet:90635|MedGen:CN517202|MeSH:D030342,MedGen:C0950123162548327254832716:g.2548327C>A-C3809181 Caused by mutation in the TBC1 domain family, member 24;
NM_001199107.2(TBC1D24):c.1074C>T (p.Pro358=)57465TBC1D24Benign/Likely benign75961715RCV000128369|RCV000262163|RCV000651582|RCV002312623; NMedGen:CN169374|MONDO:MONDO:0011506,MedGen:C0917800,OMIM:605021, Orphanet:352582|MONDO:MONDO:0010632,MedGen:C3463992,OMIM:308350; MedGen:CN236805; MONDO:MONDO:0014470,MedGen:C3892048,OMIM:616044, Orphanet:90635|MeSH:D030342,MedGen:C09501231625483292548329NC_000016.9:g.2548329C>TClinGen:CA293872C3809181 Caused by mutation in the TBC1 domain family, member 24;
NM_001199107.2(TBC1D24):c.1075G>C (p.Glu359Gln)57465TBC1D24Uncertain significance762442022RCV001058770; NMONDO:MONDO:0010632,MedGen:C3463992,OMIM:308350; MONDO:MONDO:0014470,MedGen:C3892048,OMIM:616044, Orphanet:90635; MedGen:CN236805162548330254833016:g.2548330G>C-
NM_001199107.2(TBC1D24):c.1075G>A (p.Glu359Lys)57465TBC1D24Uncertain significance-1RCV002615654; NMONDO:MONDO:0014470,MedGen:C3892048,OMIM:616044, Orphanet:90635; MedGen:CN236805; MONDO:MONDO:0010632,MedGen:C3463992,OMIM:3083501625483302548330NC_000016.9:g.2548330G>A-
NM_001199107.2(TBC1D24):c.1078C>T (p.Arg360Cys)57465TBC1D24Uncertain significance1057519629RCV000417200|RCV000996172|RCV001072080; NHuman Phenotype Ontology:HP:0001300,MedGen:C0242422|MedGen:C3661900|MedGen:CN236805; MONDO:MONDO:0014470,MedGen:C3892048,OMIM:616044, Orphanet:90635; MONDO:MONDO:0010632,MedGen:C3463992,OMIM:308350162548333254833316:g.2548333C>TClinGen:CA16044431C0242422 Parkinsonism;
NM_001199107.2(TBC1D24):c.1086C>T (p.Ala362=)57465TBC1D24Likely benign-1RCV002821046; NMONDO:MONDO:0014470,MedGen:C3892048,OMIM:616044, Orphanet:90635; MedGen:CN236805; MONDO:MONDO:0010632,MedGen:C3463992,OMIM:3083501625483412548341-
NM_001199107.2(TBC1D24):c.1095G>A (p.Gln365=)57465TBC1D24Likely benign2141874394RCV002092202; NMONDO:MONDO:0010632,MedGen:C3463992,OMIM:308350; MedGen:CN236805; MONDO:MONDO:0014470,MedGen:C3892048,OMIM:616044, Orphanet:9063516254835025483502548350-
NM_001199107.2(TBC1D24):c.1097C>T (p.Pro366Leu)57465TBC1D24Uncertain significance2141874400RCV001370792; NMONDO:MONDO:0010632,MedGen:C3463992,OMIM:308350; MONDO:MONDO:0014470,MedGen:C3892048,OMIM:616044, Orphanet:90635; MedGen:CN23680516254835225483522548352-
NM_001199107.2(TBC1D24):c.1100T>A (p.Leu367His)57465TBC1D24Uncertain significance2065761961RCV001321756; NMONDO:MONDO:0010632,MedGen:C3463992,OMIM:308350; MedGen:CN236805; MONDO:MONDO:0014470,MedGen:C3892048,OMIM:616044, Orphanet:9063516254835525483552548355-
NM_001199107.2(TBC1D24):c.1110C>T (p.Phe370=)57465TBC1D24Likely benign1555501404RCV000549937; NMONDO:MONDO:0014470,MedGen:C3892048,OMIM:616044, Orphanet:90635; MONDO:MONDO:0010632,MedGen:C3463992,OMIM:308350; MedGen:CN2368051625483652548365NC_000016.9:g.2548365C>TClinGen:CA493162478C3809181 Caused by mutation in the TBC1 domain family, member 24;
NM_001199107.2(TBC1D24):c.1119G>T (p.Leu373=)57465TBC1D24Likely benign2141874428RCV001394602; NMedGen:CN236805; MONDO:MONDO:0010632,MedGen:C3463992,OMIM:308350; MONDO:MONDO:0014470,MedGen:C3892048,OMIM:616044, Orphanet:9063516254837425483742548374-
NM_001199107.2(TBC1D24):c.1125C>T (p.His375=)57465TBC1D24Conflicting interpretations of pathogenicity749163517RCV000219821|RCV000724360|RCV001078648|RCV001116951|RCV002433777; NMedGen:CN169374|MedGen:CN517202|MONDO:MONDO:0010632,MedGen:C3463992,OMIM:308350; MONDO:MONDO:0014470,MedGen:C3892048,OMIM:616044, Orphanet:90635; MedGen:CN236805|MONDO:MONDO:0011506,MedGen:C0917800,OMIM:605021, Orphanet:352582|MeSH:D030342,MedGen:C0950123162548380254838016:g.2548380C>TClinGen:CA245183CN169374 not specified;
NM_001199107.2(TBC1D24):c.1131C>G (p.Tyr377Ter)57465TBC1D24Pathogenic1567413218RCV000690143; NMedGen:CN236805; MONDO:MONDO:0010632,MedGen:C3463992,OMIM:308350; MONDO:MONDO:0014470,MedGen:C3892048,OMIM:616044, Orphanet:90635162548386254838616:g.2548386C>G-C3809181 Caused by mutation in the TBC1 domain family, member 24;
NM_001199107.2(TBC1D24):c.1137G>A (p.Leu379=)57465TBC1D24Conflicting interpretations of pathogenicity1243475474RCV000733124|RCV001455895; NMedGen:CN517202|MONDO:MONDO:0010632,MedGen:C3463992,OMIM:308350; MedGen:CN236805; MONDO:MONDO:0014470,MedGen:C3892048,OMIM:616044, Orphanet:906351625483922548392NC_000016.9:g.2548392G>A-
NM_001199107.2(TBC1D24):c.1138G>T (p.Ala380Ser)57465TBC1D24Uncertain significance2141874469RCV002038814; NMONDO:MONDO:0014470,MedGen:C3892048,OMIM:616044, Orphanet:90635; MedGen:CN236805; MONDO:MONDO:0010632,MedGen:C3463992,OMIM:30835016254839325483932548393-
NM_001199107.2(TBC1D24):c.1141dup (p.Arg381fs)57465TBC1D24Pathogenic1205407936RCV002035433; NMONDO:MONDO:0010632,MedGen:C3463992,OMIM:308350; MedGen:CN236805; MONDO:MONDO:0014470,MedGen:C3892048,OMIM:616044, Orphanet:9063516254839525483962548395-
NM_001199107.2(TBC1D24):c.1142+6A>T57465TBC1D24Uncertain significance778930581RCV000557793; NMONDO:MONDO:0014470,MedGen:C3892048,OMIM:616044, Orphanet:90635; MONDO:MONDO:0010632,MedGen:C3463992,OMIM:308350; MedGen:CN2368051625484032548403NC_000016.9:g.2548403A>TClinGen:CA7844157C3809181 Caused by mutation in the TBC1 domain family, member 24;
NM_001199107.2(TBC1D24):c.1142+7C>A57465TBC1D24Likely benign1364280797RCV001408133; NMedGen:CN236805; MONDO:MONDO:0010632,MedGen:C3463992,OMIM:308350; MONDO:MONDO:0014470,MedGen:C3892048,OMIM:616044, Orphanet:9063516254840425484042548404-
NM_001199107.2(TBC1D24):c.1142+14G>A57465TBC1D24Likely benign745904419RCV000214163|RCV002057148; NMedGen:CN169374|MONDO:MONDO:0010632,MedGen:C3463992,OMIM:308350; MedGen:CN236805; MONDO:MONDO:0014470,MedGen:C3892048,OMIM:616044, Orphanet:906351625484112548411NC_000016.9:g.2548411G>AClinGen:CA7844158CN169374 not specified;
NM_001199107.2(TBC1D24):c.1142+17C>A57465TBC1D24Benign199499346RCV000440371|RCV002061537; NMedGen:CN169374|MedGen:CN236805; MONDO:MONDO:0010632,MedGen:C3463992,OMIM:308350; MONDO:MONDO:0014470,MedGen:C3892048,OMIM:616044, Orphanet:90635162548414254841416:g.2548414C>AClinGen:CA7844159CN169374 not specified;
NC_000016.9:g.(?_2549338)_(2550959_?)dup57465TBC1D24Uncertain significance-1RCV001922871; NMedGen:CN236805; MONDO:MONDO:0014470,MedGen:C3892048,OMIM:616044, Orphanet:90635; MONDO:MONDO:0010632,MedGen:C3463992,OMIM:3083501625493382550959-1-
NM_001199107.2(TBC1D24):c.1143-15G>A57465TBC1D24Conflicting interpretations of pathogenicity371213803RCV000128370|RCV001116952|RCV002055836; NMedGen:CN169374|MONDO:MONDO:0011506,MedGen:C0917800,OMIM:605021, Orphanet:352582|MONDO:MONDO:0010632,MedGen:C3463992,OMIM:308350; MedGen:CN236805; MONDO:MONDO:0014470,MedGen:C3892048,OMIM:616044, Orphanet:906351625493432549343NC_000016.9:g.2549343G>AClinGen:CA293875CN169374 not specified;
NM_001199107.2(TBC1D24):c.1143-9C>G57465TBC1D24Likely benign-1RCV003050459; NMedGen:CN236805; MONDO:MONDO:0010632,MedGen:C3463992,OMIM:308350; MONDO:MONDO:0014470,MedGen:C3892048,OMIM:616044, Orphanet:906351625493492549349NC_000016.9:g.2549349C>G-
NM_001199107.2(TBC1D24):c.1143-6C>T57465TBC1D24Benign/Likely benign73490287RCV000118574|RCV000353539|RCV000467526|RCV002498537; NMedGen:CN169374|MONDO:MONDO:0011506,MedGen:C0917800,OMIM:605021, Orphanet:352582|MedGen:CN236805; MONDO:MONDO:0010632,MedGen:C3463992,OMIM:308350; MONDO:MONDO:0014470,MedGen:C3892048,OMIM:616044, Orphanet:90635|6 conditions162549352254935216:g.2549352C>TClinGen:CA289056C3809181 Caused by mutation in the TBC1 domain family, member 24;
NM_001199107.2(TBC1D24):c.1143-5G>T57465TBC1D24Likely benign754105574RCV001492682; NMONDO:MONDO:0010632,MedGen:C3463992,OMIM:308350; MedGen:CN236805; MONDO:MONDO:0014470,MedGen:C3892048,OMIM:616044, Orphanet:90635162549353254935316:g.2549353G>T-
NM_001199107.2(TBC1D24):c.1143-5G>A57465TBC1D24Likely benign754105574RCV001471923; NMedGen:CN236805; MONDO:MONDO:0014470,MedGen:C3892048,OMIM:616044, Orphanet:90635; MONDO:MONDO:0010632,MedGen:C3463992,OMIM:30835016254935325493532549353-
NM_001199107.2(TBC1D24):c.1153C>T (p.Gln385Ter)57465TBC1D24Pathogenic2065771024RCV001057682|RCV002348423; NMONDO:MONDO:0010632,MedGen:C3463992,OMIM:308350; MONDO:MONDO:0014470,MedGen:C3892048,OMIM:616044, Orphanet:90635; MedGen:CN236805|MeSH:D030342,MedGen:C0950123162549368254936816:g.2549368C>T-
NM_001199107.2(TBC1D24):c.1166A>G (p.His389Arg)57465TBC1D24Uncertain significance528162903RCV001915156; NMONDO:MONDO:0014470,MedGen:C3892048,OMIM:616044, Orphanet:90635; MedGen:CN236805; MONDO:MONDO:0010632,MedGen:C3463992,OMIM:30835016254938125493812549381-
NM_001199107.2(TBC1D24):c.1167T>C (p.His389=)57465TBC1D24Likely benign2065771222RCV002086348; NMONDO:MONDO:0010632,MedGen:C3463992,OMIM:308350; MONDO:MONDO:0014470,MedGen:C3892048,OMIM:616044, Orphanet:90635; MedGen:CN23680516254938225493822549382-
NM_001199107.2(TBC1D24):c.1171C>G (p.Pro391Ala)57465TBC1D24Conflicting interpretations of pathogenicity1435411888RCV001862031|RCV001311423|RCV002314524; NMONDO:MONDO:0014470,MedGen:C3892048,OMIM:616044, Orphanet:90635; MONDO:MONDO:0010632,MedGen:C3463992,OMIM:308350; MedGen:CN236805|MedGen:C3661900|MeSH:D030342,MedGen:C09501231625493862549386NC_000016.9:g.2549386C>G-
NM_001199107.2(TBC1D24):c.1196C>T (p.Thr399Met)57465TBC1D24Conflicting interpretations of pathogenicity61731477RCV000349147|RCV000462511|RCV001705419|RCV002338842; NMedGen:CN169374|MedGen:CN236805; MONDO:MONDO:0010632,MedGen:C3463992,OMIM:308350; MONDO:MONDO:0014470,MedGen:C3892048,OMIM:616044, Orphanet:90635|MedGen:C3661900|MeSH:D030342,MedGen:C0950123162549411254941116:g.2549411C>TClinGen:CA7844191C3809181 Caused by mutation in the TBC1 domain family, member 24;
NM_001199107.2(TBC1D24):c.1198_1200dup (p.Gln400dup)57465TBC1D24Uncertain significance752216831RCV002000610; NMONDO:MONDO:0014470,MedGen:C3892048,OMIM:616044, Orphanet:90635; MONDO:MONDO:0010632,MedGen:C3463992,OMIM:308350; MedGen:CN23680516254941125494122549411-
NM_001199107.2(TBC1D24):c.1197G>A (p.Thr399=)57465TBC1D24Likely benign568288551RCV002088294; NMONDO:MONDO:0010632,MedGen:C3463992,OMIM:308350; MONDO:MONDO:0014470,MedGen:C3892048,OMIM:616044, Orphanet:90635; MedGen:CN23680516254941225494122549412-
NM_001199107.2(TBC1D24):c.1206+6C>T57465TBC1D24Conflicting interpretations of pathogenicity974544530RCV001578131|RCV001882692; NMedGen:C3661900|MedGen:CN236805; MONDO:MONDO:0014470,MedGen:C3892048,OMIM:616044, Orphanet:90635; MONDO:MONDO:0010632,MedGen:C3463992,OMIM:30835016254942725494272549427-
NM_001199107.2(TBC1D24):c.1206+7A>G57465TBC1D24Likely benign2065771868RCV002201155; NMONDO:MONDO:0010632,MedGen:C3463992,OMIM:308350; MONDO:MONDO:0014470,MedGen:C3892048,OMIM:616044, Orphanet:90635; MedGen:CN23680516254942825494282549428-
NM_001199107.2(TBC1D24):c.1206+11G>C57465TBC1D24Likely benign-1RCV003055205; NMedGen:CN236805; MONDO:MONDO:0010632,MedGen:C3463992,OMIM:308350; MONDO:MONDO:0014470,MedGen:C3892048,OMIM:616044, Orphanet:906351625494322549432NC_000016.9:g.2549432G>C-
NM_001199107.2(TBC1D24):c.1206+13C>T57465TBC1D24Likely benign376162122RCV000607220|RCV002066752; NMedGen:CN169374|MONDO:MONDO:0014470,MedGen:C3892048,OMIM:616044, Orphanet:90635; MONDO:MONDO:0010632,MedGen:C3463992,OMIM:308350; MedGen:CN236805162549434254943416:g.2549434C>TClinGen:CA7844198CN169374 not specified;
NM_001199107.2(TBC1D24):c.1206+20CCAGGGCTGGCTCTGATGGGCT[4]57465TBC1D24Likely benign777798547RCV001969242; NMONDO:MONDO:0010632,MedGen:C3463992,OMIM:308350; MONDO:MONDO:0014470,MedGen:C3892048,OMIM:616044, Orphanet:90635; MedGen:CN23680516254944025494412549440-
NM_001199107.2(TBC1D24):c.1206+20CCAGGGCTGGCTCTGATGGGCT[2]57465TBC1D24Benign777798547RCV002136836; NMedGen:CN236805; MONDO:MONDO:0014470,MedGen:C3892048,OMIM:616044, Orphanet:90635; MONDO:MONDO:0010632,MedGen:C3463992,OMIM:30835016254944125494622549440-
NM_001199107.2(TBC1D24):c.1207-20C>A57465TBC1D24Likely benign757347903RCV002182036; NMedGen:CN236805; MONDO:MONDO:0014470,MedGen:C3892048,OMIM:616044, Orphanet:90635; MONDO:MONDO:0010632,MedGen:C3463992,OMIM:30835016254981625498162549816-
NM_001199107.2(TBC1D24):c.1207-20C>T57465TBC1D24Likely benign-1RCV002853244; NMONDO:MONDO:0014470,MedGen:C3892048,OMIM:616044, Orphanet:90635; MedGen:CN236805; MONDO:MONDO:0010632,MedGen:C3463992,OMIM:3083501625498162549816NC_000016.9:g.2549816C>T-
NM_001199107.2(TBC1D24):c.1207-18C>T57465TBC1D24Likely benign372876116RCV002103098; NMedGen:CN236805; MONDO:MONDO:0010632,MedGen:C3463992,OMIM:308350; MONDO:MONDO:0014470,MedGen:C3892048,OMIM:616044, Orphanet:9063516254981825498182549818-
NM_001199107.2(TBC1D24):c.1207-16C>G57465TBC1D24Conflicting interpretations of pathogenicity201618854RCV000481666|RCV002063698; NMedGen:CN517202|MONDO:MONDO:0010632,MedGen:C3463992,OMIM:308350; MONDO:MONDO:0014470,MedGen:C3892048,OMIM:616044, Orphanet:90635; MedGen:CN236805162549820254982016:g.2549820C>GClinGen:CA7844220CN169374 not specified;
NM_001199107.2(TBC1D24):c.1207-11C>T57465TBC1D24Likely benign778247648RCV001779795|RCV002074072; NMedGen:C3661900|MONDO:MONDO:0010632,MedGen:C3463992,OMIM:308350; MedGen:CN236805; MONDO:MONDO:0014470,MedGen:C3892048,OMIM:616044, Orphanet:9063516254982525498252549825-
NM_001199107.2(TBC1D24):c.1207-7C>T57465TBC1D24Likely benign1348586468RCV001437449; NMedGen:CN236805; MONDO:MONDO:0010632,MedGen:C3463992,OMIM:308350; MONDO:MONDO:0014470,MedGen:C3892048,OMIM:616044, Orphanet:9063516254982925498292549829-
NM_001199107.2(TBC1D24):c.1207-6C>G57465TBC1D24Conflicting interpretations of pathogenicity749626631RCV000497575|RCV000696979; NMedGen:CN517202|MONDO:MONDO:0010632,MedGen:C3463992,OMIM:308350; MedGen:CN236805; MONDO:MONDO:0014470,MedGen:C3892048,OMIM:616044, Orphanet:90635162549830254983016:g.2549830C>GClinGen:CA7844222C3809181 Caused by mutation in the TBC1 domain family, member 24;
NM_001199107.2(TBC1D24):c.1207-6C>T57465TBC1D24Uncertain significance749626631RCV001933295; NMONDO:MONDO:0014470,MedGen:C3892048,OMIM:616044, Orphanet:90635; MedGen:CN236805; MONDO:MONDO:0010632,MedGen:C3463992,OMIM:30835016254983025498302549830-
NM_001199107.2(TBC1D24):c.1209G>A (p.Val403=)57465TBC1D24Likely benign1165918189RCV001456376; NMONDO:MONDO:0010632,MedGen:C3463992,OMIM:308350; MONDO:MONDO:0014470,MedGen:C3892048,OMIM:616044, Orphanet:90635; MedGen:CN23680516254983825498382549838-
NM_001199107.2(TBC1D24):c.1209G>T (p.Val403=)57465TBC1D24Likely benign-1RCV003037855; NMONDO:MONDO:0014470,MedGen:C3892048,OMIM:616044, Orphanet:90635; MONDO:MONDO:0010632,MedGen:C3463992,OMIM:308350; MedGen:CN2368051625498382549838-
NM_001199107.2(TBC1D24):c.1213G>A (p.Gly405Ser)57465TBC1D24Uncertain significance-1RCV002685918; NMONDO:MONDO:0014470,MedGen:C3892048,OMIM:616044, Orphanet:90635; MedGen:CN236805; MONDO:MONDO:0010632,MedGen:C3463992,OMIM:3083501625498422549842NC_000016.9:g.2549842G>A-
NM_001199107.2(TBC1D24):c.1221C>T (p.Tyr407=)57465TBC1D24Likely benign2065775888RCV002212701; NMONDO:MONDO:0010632,MedGen:C3463992,OMIM:308350; MedGen:CN236805; MONDO:MONDO:0014470,MedGen:C3892048,OMIM:616044, Orphanet:9063516254985025498502549850-
NM_001199107.2(TBC1D24):c.1238G>A (p.Ser413Asn)57465TBC1D24Uncertain significance2065776034RCV001210247; NMONDO:MONDO:0010632,MedGen:C3463992,OMIM:308350; MONDO:MONDO:0014470,MedGen:C3892048,OMIM:616044, Orphanet:90635; MedGen:CN236805162549867254986716:g.2549867G>A-
NM_001199107.2(TBC1D24):c.1253T>C (p.Phe418Ser)57465TBC1D24Uncertain significance776176742RCV000189699|RCV000660651|RCV001232819|RCV002415814; NMedGen:CN517202|MONDO:MONDO:0011506,MedGen:C0917800,OMIM:605021, Orphanet:352582; MONDO:MONDO:0014133,MedGen:C3809173,OMIM:615338, Orphanet:293181, Orphanet:352596|MONDO:MONDO:0010632,MedGen:C3463992,OMIM:308350; MONDO:MONDO:0014470,MedGen:C3892048,OMIM:61601625498822549882NC_000016.9:g.2549882T>CClinGen:CA319059C3809173 615338 Early infantile epileptic encephalopathy 16;
NM_001199107.2(TBC1D24):c.1253T>G (p.Phe418Cys)57465TBC1D24Uncertain significance776176742RCV001989078; NMONDO:MONDO:0010632,MedGen:C3463992,OMIM:308350; MedGen:CN236805; MONDO:MONDO:0014470,MedGen:C3892048,OMIM:616044, Orphanet:9063516254988225498822549882-
NM_001199107.2(TBC1D24):c.1256G>C (p.Gly419Ala)57465TBC1D24Uncertain significance-1RCV002820692; NMONDO:MONDO:0014470,MedGen:C3892048,OMIM:616044, Orphanet:90635; MedGen:CN236805; MONDO:MONDO:0010632,MedGen:C3463992,OMIM:3083501625498852549885NC_000016.9:g.2549885G>C-
NM_001199107.2(TBC1D24):c.1260C>A (p.Gly420=)57465TBC1D24Likely benign761432102RCV001392844; NMONDO:MONDO:0014470,MedGen:C3892048,OMIM:616044, Orphanet:90635; MONDO:MONDO:0010632,MedGen:C3463992,OMIM:308350; MedGen:CN23680516254988925498892549889-
NM_001199107.2(TBC1D24):c.1269C>T (p.Gly423=)57465TBC1D24Likely benign-1RCV002639763; NMONDO:MONDO:0014470,MedGen:C3892048,OMIM:616044, Orphanet:90635; MedGen:CN236805; MONDO:MONDO:0010632,MedGen:C3463992,OMIM:3083501625498982549898-
NM_001199107.2(TBC1D24):c.1271T>G (p.Phe424Cys)57465TBC1D24Uncertain significance1596972145RCV000792963; NMedGen:CN236805; MONDO:MONDO:0014470,MedGen:C3892048,OMIM:616044, Orphanet:90635; MONDO:MONDO:0010632,MedGen:C3463992,OMIM:308350162549900254990016:g.2549900T>G-
NM_001199107.2(TBC1D24):c.1278G>A (p.Gly426=)57465TBC1D24Likely benign377748101RCV000827361|RCV001435411; NMedGen:CN517202|MONDO:MONDO:0014470,MedGen:C3892048,OMIM:616044, Orphanet:90635; MONDO:MONDO:0010632,MedGen:C3463992,OMIM:308350; MedGen:CN236805162549907254990716:g.2549907G>A-
NM_001199107.2(TBC1D24):c.1281C>T (p.Thr427=)57465TBC1D24Likely benign200089341RCV001468764; NMONDO:MONDO:0010632,MedGen:C3463992,OMIM:308350; MONDO:MONDO:0014470,MedGen:C3892048,OMIM:616044, Orphanet:90635; MedGen:CN236805162549910254991016:g.2549910C>TClinGen:CA7844233C3809181 Caused by mutation in the TBC1 domain family, member 24;
NM_001199107.2(TBC1D24):c.1288T>C (p.Cys430Arg)57465TBC1D24Uncertain significance863224932RCV002518401; NMONDO:MONDO:0010632,MedGen:C3463992,OMIM:308350; MONDO:MONDO:0014470,MedGen:C3892048,OMIM:616044, Orphanet:90635; MedGen:CN2368051625499172549917NC_000016.9:g.2549917T>CClinVar:424803,ClinGen:CA354165C1857345 220500 Digitorenocerebral syndrome;
NM_001199107.2(TBC1D24):c.1298T>C (p.Phe433Ser)57465TBC1D24Uncertain significance-1RCV002662333; NMONDO:MONDO:0014470,MedGen:C3892048,OMIM:616044, Orphanet:90635; MedGen:CN236805; MONDO:MONDO:0010632,MedGen:C3463992,OMIM:3083501625499272549927NC_000016.9:g.2549927T>C-
NM_001199107.2(TBC1D24):c.1302+9G>A57465TBC1D24Likely benign1197608274RCV001478789; NMONDO:MONDO:0014470,MedGen:C3892048,OMIM:616044, Orphanet:90635; MONDO:MONDO:0010632,MedGen:C3463992,OMIM:308350; MedGen:CN23680516254994025499402549940-
NM_001199107.2(TBC1D24):c.1302+14A>C57465TBC1D24Likely benign528462687RCV000216474|RCV002057149; NMedGen:CN169374|MONDO:MONDO:0010632,MedGen:C3463992,OMIM:308350; MedGen:CN236805; MONDO:MONDO:0014470,MedGen:C3892048,OMIM:616044, Orphanet:906351625499452549945NC_000016.9:g.2549945A>CClinGen:CA7844239CN169374 not specified;
NM_001199107.2(TBC1D24):c.1302+17G>A57465TBC1D24Likely benign1173044946RCV002138447; NMONDO:MONDO:0010632,MedGen:C3463992,OMIM:308350; MONDO:MONDO:0014470,MedGen:C3892048,OMIM:616044, Orphanet:90635; MedGen:CN23680516254994825499482549948-
NM_001199107.2(TBC1D24):c.1302+19C>T57465TBC1D24Likely benign-1RCV002949150; NMedGen:CN236805; MONDO:MONDO:0010632,MedGen:C3463992,OMIM:308350; MONDO:MONDO:0014470,MedGen:C3892048,OMIM:616044, Orphanet:906351625499502549950NC_000016.9:g.2549950C>T-
NM_001199107.2(TBC1D24):c.1303-18A>G57465TBC1D24Likely benign2141876962RCV002007601; NMONDO:MONDO:0010632,MedGen:C3463992,OMIM:308350; MedGen:CN236805; MONDO:MONDO:0014470,MedGen:C3892048,OMIM:616044, Orphanet:9063516255025125502512550251-
NM_001199107.2(TBC1D24):c.1303-14C>T57465TBC1D24Likely benign1211054848RCV002148563; NMONDO:MONDO:0014470,MedGen:C3892048,OMIM:616044, Orphanet:90635; MONDO:MONDO:0010632,MedGen:C3463992,OMIM:308350; MedGen:CN23680516255025525502552550255-
NM_001199107.2(TBC1D24):c.1303-7A>G57465TBC1D24Likely benign2141876976RCV002091842; NMedGen:CN236805; MONDO:MONDO:0010632,MedGen:C3463992,OMIM:308350; MONDO:MONDO:0014470,MedGen:C3892048,OMIM:616044, Orphanet:9063516255026225502622550262-
NM_001199107.2(TBC1D24):c.1303-5C>G57465TBC1D24Conflicting interpretations of pathogenicity1468286638RCV000599047|RCV002062112; NMedGen:CN517202|MONDO:MONDO:0010632,MedGen:C3463992,OMIM:308350; MedGen:CN236805; MONDO:MONDO:0014470,MedGen:C3892048,OMIM:616044, Orphanet:90635162550264255026416:g.2550264C>GClinGen:CA620709378CN169374 not specified;
NM_001199107.2(TBC1D24):c.1303-5C>A57465TBC1D24Uncertain significance1468286638RCV001241424; NMONDO:MONDO:0010632,MedGen:C3463992,OMIM:308350; MedGen:CN236805; MONDO:MONDO:0014470,MedGen:C3892048,OMIM:616044, Orphanet:90635162550264255026416:g.2550264C>A-
NM_001199107.2(TBC1D24):c.1303-2A>G57465TBC1D24Likely pathogenic2141876985RCV002041046; NMONDO:MONDO:0014470,MedGen:C3892048,OMIM:616044, Orphanet:90635; MedGen:CN236805; MONDO:MONDO:0010632,MedGen:C3463992,OMIM:30835016255026725502672550267-
NM_001199107.2(TBC1D24):c.1321C>G (p.Arg441Gly)57465TBC1D24Uncertain significance775497984RCV000810363; NMONDO:MONDO:0010632,MedGen:C3463992,OMIM:308350; MedGen:CN236805; MONDO:MONDO:0014470,MedGen:C3892048,OMIM:616044, Orphanet:90635162550287255028716:g.2550287C>G-
NM_001199107.2(TBC1D24):c.1321C>T (p.Arg441Cys)57465TBC1D24Conflicting interpretations of pathogenicity775497984RCV000804069|RCV001542063|RCV002381761; NMONDO:MONDO:0010632,MedGen:C3463992,OMIM:308350; MedGen:CN236805; MONDO:MONDO:0014470,MedGen:C3892048,OMIM:616044, Orphanet:90635|MedGen:CN517202|MeSH:D030342,MedGen:C0950123162550287255028716:g.2550287C>T-
NM_001199107.2(TBC1D24):c.1322G>A (p.Arg441His)57465TBC1D24Uncertain significance556865791RCV000691094|RCV002386193; NMedGen:CN236805; MONDO:MONDO:0010632,MedGen:C3463992,OMIM:308350; MONDO:MONDO:0014470,MedGen:C3892048,OMIM:616044, Orphanet:90635|MeSH:D030342,MedGen:C09501231625502882550288NC_000016.9:g.2550288G>A-C3809181 Caused by mutation in the TBC1 domain family, member 24;
NM_001199107.2(TBC1D24):c.1326C>T (p.Tyr442=)57465TBC1D24Benign/Likely benign184639841RCV000118575|RCV000268514|RCV000710263|RCV001081227|RCV002316322|RCV002490814; NMedGen:CN169374|MONDO:MONDO:0011506,MedGen:C0917800,OMIM:605021, Orphanet:352582|MedGen:C3661900|MONDO:MONDO:0014470,MedGen:C3892048,OMIM:616044, Orphanet:90635; MONDO:MONDO:0010632,MedGen:C3463992,OMIM:308350; MedGen:CN236805|MeSH:D030342,MedGen:C0950123|6162550292255029216:g.2550292C>TClinGen:CA289057C3809181 Caused by mutation in the TBC1 domain family, member 24;
NM_001199107.2(TBC1D24):c.1327G>A (p.Glu443Lys)57465TBC1D24Conflicting interpretations of pathogenicity141399869RCV000190450|RCV000726025|RCV001079461|RCV002054246|RCV002317666; NMedGen:CN169374|MedGen:C3661900|MONDO:MONDO:0014470,MedGen:C3892048,OMIM:616044, Orphanet:90635; MONDO:MONDO:0010632,MedGen:C3463992,OMIM:308350; MedGen:CN236805|MONDO:MONDO:0009079,MedGen:C0795934,OMIM:220500, Orphanet:3231, Orphanet:79500; MONDO:MONDO:001151625502932550293NC_000016.9:g.2550293G>AClinGen:CA319677C3809181 Caused by mutation in the TBC1 domain family, member 24;
NM_001199107.2(TBC1D24):c.1327G>C (p.Glu443Gln)57465TBC1D24Uncertain significance141399869RCV000703437; NMedGen:CN236805; MONDO:MONDO:0010632,MedGen:C3463992,OMIM:308350; MONDO:MONDO:0014470,MedGen:C3892048,OMIM:616044, Orphanet:906351625502932550293NC_000016.9:g.2550293G>C-C3809181 Caused by mutation in the TBC1 domain family, member 24;
NM_001199107.2(TBC1D24):c.1335G>C (p.Val445=)57465TBC1D24Likely benign-1RCV002847450; NMONDO:MONDO:0014470,MedGen:C3892048,OMIM:616044, Orphanet:90635; MedGen:CN236805; MONDO:MONDO:0010632,MedGen:C3463992,OMIM:3083501625503012550301-
NM_001199107.2(TBC1D24):c.1341C>T (p.Ile447=)57465TBC1D24Conflicting interpretations of pathogenicity372317366RCV000323603|RCV001418264; NMONDO:MONDO:0011506,MedGen:C0917800,OMIM:605021, Orphanet:352582|MedGen:CN236805; MONDO:MONDO:0010632,MedGen:C3463992,OMIM:308350; MONDO:MONDO:0014470,MedGen:C3892048,OMIM:616044, Orphanet:906351625503072550307NC_000016.9:g.2550307C>TClinGen:CA7844272C0917800 605021 Myoclonic epilepsy, familial infantile;
NM_001199107.2(TBC1D24):c.1341C>A (p.Ile447=)57465TBC1D24Likely benign372317366RCV001394419; NMONDO:MONDO:0014470,MedGen:C3892048,OMIM:616044, Orphanet:90635; MONDO:MONDO:0010632,MedGen:C3463992,OMIM:308350; MedGen:CN2368051625503072550307NC_000016.9:g.2550307C>AClinGen:CA16615320C3809181 Caused by mutation in the TBC1 domain family, member 24;
NM_001199107.2(TBC1D24):c.1347C>T (p.His449=)57465TBC1D24Likely benign-1RCV003073145; NMONDO:MONDO:0014470,MedGen:C3892048,OMIM:616044, Orphanet:90635; MedGen:CN236805; MONDO:MONDO:0010632,MedGen:C3463992,OMIM:3083501625503132550313-
NM_001199107.2(TBC1D24):c.1350C>T (p.Pro450=)57465TBC1D24Likely benign375320196RCV000866929; NMedGen:CN236805; MONDO:MONDO:0010632,MedGen:C3463992,OMIM:308350; MONDO:MONDO:0014470,MedGen:C3892048,OMIM:616044, Orphanet:90635162550316255031616:g.2550316C>T-
NM_001199107.2(TBC1D24):c.1353G>A (p.Glu451=)57465TBC1D24Likely benign1231827471RCV001487167; NMONDO:MONDO:0014470,MedGen:C3892048,OMIM:616044, Orphanet:90635; MONDO:MONDO:0010632,MedGen:C3463992,OMIM:308350; MedGen:CN236805162550319255031916:g.2550319G>A-
NM_001199107.2(TBC1D24):c.1360_1363dup (p.Pro455fs)57465TBC1D24Pathogenic/Likely pathogenic1292551263RCV000485932|RCV002496869|RCV002526609; NMedGen:CN517202|6 conditions|MONDO:MONDO:0010632,MedGen:C3463992,OMIM:308350; MONDO:MONDO:0014470,MedGen:C3892048,OMIM:616044, Orphanet:90635; MedGen:CN236805162550324255032516:g.2550324_2550325insCAAGClinGen:CA16620171CN517202 not provided;
NM_001199107.2(TBC1D24):c.1360A>G (p.Lys454Glu)57465TBC1D24Uncertain significance758697406RCV001508408|RCV002564241; NMedGen:C3661900|MONDO:MONDO:0014470,MedGen:C3892048,OMIM:616044, Orphanet:90635; MONDO:MONDO:0010632,MedGen:C3463992,OMIM:308350; MedGen:CN23680516255032625503262550326-
NM_001199107.2(TBC1D24):c.1363C>G (p.Pro455Ala)57465TBC1D24Uncertain significance2065781206RCV001236752; NMedGen:CN236805; MONDO:MONDO:0010632,MedGen:C3463992,OMIM:308350; MONDO:MONDO:0014470,MedGen:C3892048,OMIM:616044, Orphanet:90635162550329255032916:g.2550329C>G-
NM_001199107.2(TBC1D24):c.1367C>A (p.Pro456Gln)57465TBC1D24Uncertain significance200641000RCV000488271|RCV001040182|RCV003449256; NMedGen:C3661900|MONDO:MONDO:0014470,MedGen:C3892048,OMIM:616044, Orphanet:90635; MONDO:MONDO:0010632,MedGen:C3463992,OMIM:308350; MedGen:CN236805|MONDO:MONDO:0011970,MedGen:C1842531,OMIM:608105, Orphanet:163727162550333255033316:g.2550333C>AClinGen:CA7844277CN517202 not provided;
NM_001199107.2(TBC1D24):c.1367C>T (p.Pro456Leu)57465TBC1D24Conflicting interpretations of pathogenicity200641000RCV000498808|RCV000702572|RCV001120224; NMedGen:C3661900|MedGen:CN236805; MONDO:MONDO:0014470,MedGen:C3892048,OMIM:616044, Orphanet:90635; MONDO:MONDO:0010632,MedGen:C3463992,OMIM:308350|MONDO:MONDO:0011506,MedGen:C0917800,OMIM:605021, Orphanet:352582162550333255033316:g.2550333C>TClinGen:CA7844276C3809181 Caused by mutation in the TBC1 domain family, member 24;
NM_001199107.2(TBC1D24):c.1381G>A (p.Ala461Thr)57465TBC1D24Uncertain significance201911646RCV001349496; NMONDO:MONDO:0014470,MedGen:C3892048,OMIM:616044, Orphanet:90635; MONDO:MONDO:0010632,MedGen:C3463992,OMIM:308350; MedGen:CN23680516255034725503472550347-
NM_001199107.2(TBC1D24):c.1383C>T (p.Ala461=)57465TBC1D24Likely benign552951046RCV001502375; NMONDO:MONDO:0010632,MedGen:C3463992,OMIM:308350; MedGen:CN236805; MONDO:MONDO:0014470,MedGen:C3892048,OMIM:616044, Orphanet:9063516255034925503492550349-
NM_001199107.2(TBC1D24):c.1384G>A (p.Glu462Lys)57465TBC1D24Uncertain significance368678094RCV001226467|RCV001552116|RCV003405412; NMONDO:MONDO:0014470,MedGen:C3892048,OMIM:616044, Orphanet:90635; MONDO:MONDO:0010632,MedGen:C3463992,OMIM:308350; MedGen:CN236805|MedGen:C3661900|162550350255035016:g.2550350G>A-
NM_001199107.2(TBC1D24):c.1392C>T (p.Thr464=)57465TBC1D24Likely benign199865687RCV000229919|RCV003422139; NMONDO:MONDO:0014470,MedGen:C3892048,OMIM:616044, Orphanet:90635; MedGen:CN236805; MONDO:MONDO:0010632,MedGen:C3463992,OMIM:308350|MedGen:C36619001625503582550358NC_000016.9:g.2550358C>TClinGen:CA7844282C3809181 Caused by mutation in the TBC1 domain family, member 24;
NM_001199107.2(TBC1D24):c.1393G>A (p.Ala465Thr)57465TBC1D24Uncertain significance745535369RCV001244842|RCV002484357; NMONDO:MONDO:0010632,MedGen:C3463992,OMIM:308350; MedGen:CN236805; MONDO:MONDO:0014470,MedGen:C3892048,OMIM:616044, Orphanet:90635|6 conditions162550359255035916:g.2550359G>A-
NM_001199107.2(TBC1D24):c.1397del (p.Pro466fs)57465TBC1D24Pathogenic2141877166RCV001880605; NMONDO:MONDO:0014470,MedGen:C3892048,OMIM:616044, Orphanet:90635; MedGen:CN236805; MONDO:MONDO:0010632,MedGen:C3463992,OMIM:30835016255036025503602550359-
NM_001199107.2(TBC1D24):c.1402_1409dup (p.Ser472fs)57465TBC1D24Pathogenic-1RCV003016796; NMONDO:MONDO:0014470,MedGen:C3892048,OMIM:616044, Orphanet:90635; MONDO:MONDO:0010632,MedGen:C3463992,OMIM:308350; MedGen:CN2368051625503612550362NC_000016.9:g.2550368_2550375dup-
NM_001199107.2(TBC1D24):c.1399C>A (p.Leu467Ile)57465TBC1D24Uncertain significance951307443RCV001940567; NMONDO:MONDO:0014470,MedGen:C3892048,OMIM:616044, Orphanet:90635; MONDO:MONDO:0010632,MedGen:C3463992,OMIM:308350; MedGen:CN23680516255036525503652550365-
NM_001199107.2(TBC1D24):c.1405C>T (p.His469Tyr)57465TBC1D24Uncertain significance2065781840RCV001301438; NMONDO:MONDO:0010632,MedGen:C3463992,OMIM:308350; MONDO:MONDO:0014470,MedGen:C3892048,OMIM:616044, Orphanet:90635; MedGen:CN23680516255037125503712550371-
NM_001199107.2(TBC1D24):c.1407C>T (p.His469=)57465TBC1D24Likely benign2141877201RCV002076541; NMONDO:MONDO:0010632,MedGen:C3463992,OMIM:308350; MONDO:MONDO:0014470,MedGen:C3892048,OMIM:616044, Orphanet:90635; MedGen:CN23680516255037325503732550373-
NM_001199107.2(TBC1D24):c.1410C>T (p.Ser470=)57465TBC1D24Conflicting interpretations of pathogenicity553497128RCV000866750|RCV001638002; NMONDO:MONDO:0010632,MedGen:C3463992,OMIM:308350; MONDO:MONDO:0014470,MedGen:C3892048,OMIM:616044, Orphanet:90635; MedGen:CN236805|MedGen:C3661900162550376255037616:g.2550376C>T-
NM_001199107.2(TBC1D24):c.1410C>A (p.Ser470=)57465TBC1D24Likely benign553497128RCV001195351|RCV001431799; NMedGen:CN169374|MONDO:MONDO:0014470,MedGen:C3892048,OMIM:616044, Orphanet:90635; MedGen:CN236805; MONDO:MONDO:0010632,MedGen:C3463992,OMIM:308350162550376255037616:g.2550376C>A-
NM_001199107.2(TBC1D24):c.1410C>G (p.Ser470=)57465TBC1D24Likely benign553497128RCV001404870; NMedGen:CN236805; MONDO:MONDO:0010632,MedGen:C3463992,OMIM:308350; MONDO:MONDO:0014470,MedGen:C3892048,OMIM:616044, Orphanet:9063516255037625503762550376-
NM_001199107.2(TBC1D24):c.1411G>A (p.Ala471Thr)57465TBC1D24Conflicting interpretations of pathogenicity377448015RCV000487645|RCV000809407|RCV002395183; NMedGen:C3661900|MONDO:MONDO:0010632,MedGen:C3463992,OMIM:308350; MONDO:MONDO:0014470,MedGen:C3892048,OMIM:616044, Orphanet:90635; MedGen:CN236805|MeSH:D030342,MedGen:C09501231625503772550377NC_000016.9:g.2550377G>AClinGen:CA7844289CN517202 not provided;
NM_001199107.2(TBC1D24):c.1413C>T (p.Ala471=)57465TBC1D24Likely benign761742075RCV001583329|RCV002072304; NMedGen:C3661900|MedGen:CN236805; MONDO:MONDO:0014470,MedGen:C3892048,OMIM:616044, Orphanet:90635; MONDO:MONDO:0010632,MedGen:C3463992,OMIM:30835016255037925503792550379-
NM_001199107.2(TBC1D24):c.1425C>T (p.Pro475=)57465TBC1D24Conflicting interpretations of pathogenicity370869383RCV000378316|RCV000431221|RCV000731194|RCV001089436; NMONDO:MONDO:0011506,MedGen:C0917800,OMIM:605021, Orphanet:352582|MedGen:CN169374|MedGen:C3661900|MONDO:MONDO:0010632,MedGen:C3463992,OMIM:308350; MedGen:CN236805; MONDO:MONDO:0014470,MedGen:C3892048,OMIM:616044, Orphanet:906351625503912550391NC_000016.9:g.2550391C>TClinGen:CA7844291C0917800 605021 Myoclonic epilepsy, familial infantile;
NM_001199107.2(TBC1D24):c.1426G>A (p.Ala476Thr)57465TBC1D24Uncertain significance773304369RCV000819630|RCV001256122|RCV001759600|RCV002537442; NMONDO:MONDO:0010632,MedGen:C3463992,OMIM:308350; MedGen:CN236805; MONDO:MONDO:0014470,MedGen:C3892048,OMIM:616044, Orphanet:90635|Human Phenotype Ontology:HP:0001250,Human Phenotype Ontology:HP:0001275,Human Phenotype Ontology:HP:0001303,Human Phenotype On162550392255039216:g.2550392G>A-
NM_001199107.2(TBC1D24):c.1427C>A (p.Ala476Asp)57465TBC1D24Benign/Likely benign202216463RCV000441062|RCV000514560|RCV001084227|RCV002318397|RCV002506020; NMedGen:CN169374|MedGen:C3661900|MedGen:CN236805; MONDO:MONDO:0014470,MedGen:C3892048,OMIM:616044, Orphanet:90635; MONDO:MONDO:0010632,MedGen:C3463992,OMIM:308350|MeSH:D030342,MedGen:C0950123|6 conditions162550393255039316:g.2550393C>AClinGen:CA7844293C3809181 Caused by mutation in the TBC1 domain family, member 24;
NM_001199107.2(TBC1D24):c.1433G>A (p.Arg478His)57465TBC1D24Uncertain significance1596972871RCV001983695; NMedGen:CN236805; MONDO:MONDO:0010632,MedGen:C3463992,OMIM:308350; MONDO:MONDO:0014470,MedGen:C3892048,OMIM:616044, Orphanet:9063516255039925503992550399-
NM_001199107.2(TBC1D24):c.1437C>T (p.Leu479=)57465TBC1D24Likely benign1406537159RCV001454835; NMONDO:MONDO:0014470,MedGen:C3892048,OMIM:616044, Orphanet:90635; MedGen:CN236805; MONDO:MONDO:0010632,MedGen:C3463992,OMIM:30835016255040325504032550403-
NM_001199107.2(TBC1D24):c.1439C>T (p.Ser480Leu)57465TBC1D24Uncertain significance2065782431RCV001197129|RCV001247879; NMONDO:MONDO:0014470,MedGen:C3892048,OMIM:616044, Orphanet:90635|MONDO:MONDO:0014470,MedGen:C3892048,OMIM:616044, Orphanet:90635; MedGen:CN236805; MONDO:MONDO:0010632,MedGen:C3463992,OMIM:308350162550405255040516:g.2550405C>T-
NM_001199107.2(TBC1D24):c.1440G>A (p.Ser480=)57465TBC1D24Benign12373107RCV000118576|RCV000232700|RCV000264839|RCV001636674|RCV002312510; NMedGen:CN169374|MONDO:MONDO:0014470,MedGen:C3892048,OMIM:616044, Orphanet:90635; MONDO:MONDO:0010632,MedGen:C3463992,OMIM:308350; MedGen:CN236805|MONDO:MONDO:0011506,MedGen:C0917800,OMIM:605021, Orphanet:352582|MedGen:C3661900|MeSH:D030342,MedGen:C0950123162550406255040616:g.2550406G>AClinGen:CA155648C3809181 Caused by mutation in the TBC1 domain family, member 24;
NM_001199107.2(TBC1D24):c.1446C>T (p.Phe482=)57465TBC1D24Likely benign2065782529RCV001405239; NMedGen:CN236805; MONDO:MONDO:0010632,MedGen:C3463992,OMIM:308350; MONDO:MONDO:0014470,MedGen:C3892048,OMIM:616044, Orphanet:9063516255041225504122550412-
NM_001199107.2(TBC1D24):c.1453G>A (p.Ala485Thr)57465TBC1D24Uncertain significance774586263RCV000428266|RCV001069475|RCV002393011; NMedGen:C3661900|MONDO:MONDO:0014470,MedGen:C3892048,OMIM:616044, Orphanet:90635; MONDO:MONDO:0010632,MedGen:C3463992,OMIM:308350; MedGen:CN236805|MeSH:D030342,MedGen:C0950123162550419255041916:g.2550419G>AClinGen:CA7844299CN169374 not specified;
NM_001199107.2(TBC1D24):c.1456C>T (p.Arg486Cys)57465TBC1D24Uncertain significance750028854RCV001036955|RCV001564062|RCV002552469; NMONDO:MONDO:0010632,MedGen:C3463992,OMIM:308350; MONDO:MONDO:0014470,MedGen:C3892048,OMIM:616044, Orphanet:90635; MedGen:CN236805|MedGen:CN517202|MeSH:D030342,MedGen:C0950123162550422255042216:g.2550422C>T-
NM_001199107.2(TBC1D24):c.1457G>A (p.Arg486His)57465TBC1D24Uncertain significance796053405RCV000189700|RCV000766893|RCV001852516; NMedGen:CN169374|MedGen:C3661900|MONDO:MONDO:0010632,MedGen:C3463992,OMIM:308350; MedGen:CN236805; MONDO:MONDO:0014470,MedGen:C3892048,OMIM:616044, Orphanet:906351625504232550423NC_000016.9:g.2550423G>AClinGen:CA319062CN169374 not specified;
NM_001199107.2(TBC1D24):c.1466A>G (p.Asn489Ser)57465TBC1D24Uncertain significance-1RCV002816320; NMONDO:MONDO:0014470,MedGen:C3892048,OMIM:616044, Orphanet:90635; MedGen:CN236805; MONDO:MONDO:0010632,MedGen:C3463992,OMIM:3083501625504322550432NC_000016.9:g.2550432A>G-
NM_001199107.2(TBC1D24):c.1467C>T (p.Asn489=)57465TBC1D24Conflicting interpretations of pathogenicity779963634RCV000220103|RCV000329560|RCV000472988; NMedGen:CN169374|MONDO:MONDO:0011506,MedGen:C0917800,OMIM:605021, Orphanet:352582|MONDO:MONDO:0010632,MedGen:C3463992,OMIM:308350; MedGen:CN236805; MONDO:MONDO:0014470,MedGen:C3892048,OMIM:616044, Orphanet:906351625504332550433NC_000016.9:g.2550433C>TClinGen:CA7844302C3809181 Caused by mutation in the TBC1 domain family, member 24;
NM_001199107.2(TBC1D24):c.1471C>T (p.Pro491Ser)57465TBC1D24Uncertain significance1326854687RCV002037147; NMONDO:MONDO:0010632,MedGen:C3463992,OMIM:308350; MedGen:CN236805; MONDO:MONDO:0014470,MedGen:C3892048,OMIM:616044, Orphanet:9063516255043725504372550437-
NM_001199107.2(TBC1D24):c.1473C>G (p.Pro491=)57465TBC1D24Conflicting interpretations of pathogenicity370427146RCV000189675|RCV000729449|RCV001086466|RCV002390501; NMedGen:CN169374|MedGen:C3661900|MONDO:MONDO:0010632,MedGen:C3463992,OMIM:308350; MedGen:CN236805; MONDO:MONDO:0014470,MedGen:C3892048,OMIM:616044, Orphanet:90635|MeSH:D030342,MedGen:C09501231625504392550439NC_000016.9:g.2550439C>GClinGen:CA319002C3809181 Caused by mutation in the TBC1 domain family, member 24;
NM_001199107.2(TBC1D24):c.1474T>A (p.Ser492Thr)57465TBC1D24Uncertain significance2141877364RCV001988176; NMONDO:MONDO:0010632,MedGen:C3463992,OMIM:308350; MONDO:MONDO:0014470,MedGen:C3892048,OMIM:616044, Orphanet:90635; MedGen:CN23680516255044025504402550440-
NM_001199107.2(TBC1D24):c.1482C>G (p.Thr494=)57465TBC1D24Likely benign373862230RCV000435014|RCV002062728; NMedGen:CN169374|MedGen:CN236805; MONDO:MONDO:0014470,MedGen:C3892048,OMIM:616044, Orphanet:90635; MONDO:MONDO:0010632,MedGen:C3463992,OMIM:308350162550448255044816:g.2550448C>GClinGen:CA7844305CN169374 not specified;
NM_001199107.2(TBC1D24):c.1482C>T (p.Thr494=)57465TBC1D24Conflicting interpretations of pathogenicity373862230RCV001120225|RCV001442337; NMONDO:MONDO:0011506,MedGen:C0917800,OMIM:605021, Orphanet:352582|MONDO:MONDO:0014470,MedGen:C3892048,OMIM:616044, Orphanet:90635; MedGen:CN236805; MONDO:MONDO:0010632,MedGen:C3463992,OMIM:308350162550448255044816:g.2550448C>T-
NM_001199107.2(TBC1D24):c.1483G>A (p.Glu495Lys)57465TBC1D24Uncertain significance769751880RCV001302377; NMONDO:MONDO:0010632,MedGen:C3463992,OMIM:308350; MONDO:MONDO:0014470,MedGen:C3892048,OMIM:616044, Orphanet:90635; MedGen:CN23680516255044925504492550449-
NM_001199107.2(TBC1D24):c.1488del (p.Met497fs)57465TBC1D24Pathogenic-1RCV003027922; NMedGen:CN236805; MONDO:MONDO:0010632,MedGen:C3463992,OMIM:308350; MONDO:MONDO:0014470,MedGen:C3892048,OMIM:616044, Orphanet:906351625504532550453NC_000016.9:g.2550454del-
NM_001199107.2(TBC1D24):c.1489A>G (p.Met497Val)57465TBC1D24Uncertain significance2065783244RCV001944916; NMedGen:CN236805; MONDO:MONDO:0010632,MedGen:C3463992,OMIM:308350; MONDO:MONDO:0014470,MedGen:C3892048,OMIM:616044, Orphanet:9063516255045525504552550455-
NM_001199107.2(TBC1D24):c.1490T>C (p.Met497Thr)57465TBC1D24Uncertain significance367710709RCV000189701|RCV000766894|RCV001069416; NMedGen:CN169374|MedGen:C3661900|MONDO:MONDO:0010632,MedGen:C3463992,OMIM:308350; MedGen:CN236805; MONDO:MONDO:0014470,MedGen:C3892048,OMIM:616044, Orphanet:90635162550456255045616:g.2550456T>CClinGen:CA319065CN169374 not specified;
NM_001199107.2(TBC1D24):c.1495A>G (p.Met499Val)57465TBC1D24Uncertain significance2065783330RCV001885815; NMedGen:CN236805; MONDO:MONDO:0010632,MedGen:C3463992,OMIM:308350; MONDO:MONDO:0014470,MedGen:C3892048,OMIM:616044, Orphanet:9063516255046125504612550461-
NM_001199107.2(TBC1D24):c.1497G>A (p.Met499Ile)57465TBC1D24Uncertain significance1403522004RCV001244588; NMONDO:MONDO:0010632,MedGen:C3463992,OMIM:308350; MedGen:CN236805; MONDO:MONDO:0014470,MedGen:C3892048,OMIM:616044, Orphanet:90635162550463255046316:g.2550463G>A-
NM_001199107.2(TBC1D24):c.1499C>T (p.Ala500Val)57465TBC1D24Pathogenic/Likely pathogenic564477999RCV000481838|RCV000800580|RCV000808207; NMedGen:C3661900|MedGen:CN236805; MONDO:MONDO:0014470,MedGen:C3892048,OMIM:616044, Orphanet:90635; MONDO:MONDO:0010632,MedGen:C3463992,OMIM:308350|MONDO:MONDO:0011970,MedGen:C1842531,OMIM:608105, Orphanet:1637271625504652550465NC_000016.9:g.2550465C>TClinGen:CA16620172,OMIM:613577.0018CN517202 not provided;
NM_001199107.2(TBC1D24):c.1499C>G (p.Ala500Gly)57465TBC1D24Likely pathogenic-1RCV003070095; NMONDO:MONDO:0014470,MedGen:C3892048,OMIM:616044, Orphanet:90635; MedGen:CN236805; MONDO:MONDO:0010632,MedGen:C3463992,OMIM:3083501625504652550465NC_000016.9:g.2550465C>G-
NM_001199107.2(TBC1D24):c.1505dup (p.Ser503fs)57465TBC1D24Pathogenic-1RCV002716714; NMONDO:MONDO:0014470,MedGen:C3892048,OMIM:616044, Orphanet:90635; MedGen:CN236805; MONDO:MONDO:0010632,MedGen:C3463992,OMIM:3083501625504652550466NC_000016.9:g.2550471dup-
NM_001199107.2(TBC1D24):c.1500G>A (p.Ala500=)57465TBC1D24Benign/Likely benign201059992RCV000118577|RCV000477033|RCV001082064|RCV001120226|RCV002313924; NMedGen:CN169374|MedGen:C3661900|MONDO:MONDO:0014470,MedGen:C3892048,OMIM:616044, Orphanet:90635; MONDO:MONDO:0010632,MedGen:C3463992,OMIM:308350; MedGen:CN236805|MONDO:MONDO:0011506,MedGen:C0917800,OMIM:605021, Orphanet:352582|MeSH:D030342,MedGen:C0950123162550466255046616:g.2550466G>AClinGen:CA289060C3809181 Caused by mutation in the TBC1 domain family, member 24;
NM_001199107.2(TBC1D24):c.1500G>C (p.Ala500=)57465TBC1D24Likely benign201059992RCV001449028; NMONDO:MONDO:0010632,MedGen:C3463992,OMIM:308350; MONDO:MONDO:0014470,MedGen:C3892048,OMIM:616044, Orphanet:90635; MedGen:CN23680516255046625504662550466-
NM_001199107.2(TBC1D24):c.1503G>A (p.Gly501=)57465TBC1D24Benign/Likely benign368735897RCV000189676|RCV000863639|RCV002311284|RCV002510810; NMedGen:CN169374|MONDO:MONDO:0014470,MedGen:C3892048,OMIM:616044, Orphanet:90635; MONDO:MONDO:0010632,MedGen:C3463992,OMIM:308350; MedGen:CN236805|MeSH:D030342,MedGen:C0950123|MedGen:C36619001625504692550469NC_000016.9:g.2550469G>AClinGen:CA319005CN169374 not specified;
NM_001199107.2(TBC1D24):c.1505G>A (p.Gly502Asp)57465TBC1D24Uncertain significance-1RCV002943883; NMedGen:CN236805; MONDO:MONDO:0010632,MedGen:C3463992,OMIM:308350; MONDO:MONDO:0014470,MedGen:C3892048,OMIM:616044, Orphanet:906351625504712550471NC_000016.9:g.2550471G>A-
NM_001199107.2(TBC1D24):c.1506C>T (p.Gly502=)57465TBC1D24Likely benign1302904331RCV002191514; NMedGen:CN236805; MONDO:MONDO:0014470,MedGen:C3892048,OMIM:616044, Orphanet:90635; MONDO:MONDO:0010632,MedGen:C3463992,OMIM:30835016255047225504722550472-
NM_001199107.2(TBC1D24):c.1508G>A (p.Ser503Asn)57465TBC1D24Uncertain significance-1RCV003017744; NMONDO:MONDO:0014470,MedGen:C3892048,OMIM:616044, Orphanet:90635; MONDO:MONDO:0010632,MedGen:C3463992,OMIM:308350; MedGen:CN2368051625504742550474NC_000016.9:g.2550474G>A-
NM_001199107.2(TBC1D24):c.1509C>T (p.Ser503=)57465TBC1D24Benign/Likely benign189089167RCV000118578|RCV000227590|RCV000384074|RCV001082344|RCV002313925|RCV002498538; NMedGen:CN169374|MedGen:C3661900|MONDO:MONDO:0011506,MedGen:C0917800,OMIM:605021, Orphanet:352582|MONDO:MONDO:0014470,MedGen:C3892048,OMIM:616044, Orphanet:90635; MONDO:MONDO:0010632,MedGen:C3463992,OMIM:308350; MedGen:CN236805|MeSH:D030342,MedGen:C0950123|6162550475255047516:g.2550475C>TClinGen:CA289063C3809181 Caused by mutation in the TBC1 domain family, member 24;
NM_001199107.2(TBC1D24):c.1510G>A (p.Asp504Asn)57465TBC1D24Uncertain significance767925237RCV000413354|RCV001313518; NMedGen:CN517202|MedGen:CN236805; MONDO:MONDO:0014470,MedGen:C3892048,OMIM:616044, Orphanet:90635; MONDO:MONDO:0010632,MedGen:C3463992,OMIM:308350162550476255047616:g.2550476G>AClinGen:CA7844309CN169374 not specified;
NM_001199107.2(TBC1D24):c.1513T>G (p.Cys505Gly)57465TBC1D24Uncertain significance761300077RCV001948039; NMONDO:MONDO:0014470,MedGen:C3892048,OMIM:616044, Orphanet:90635; MONDO:MONDO:0010632,MedGen:C3463992,OMIM:308350; MedGen:CN23680516255047925504792550479-
NM_001199107.2(TBC1D24):c.1521C>T (p.Ile507=)57465TBC1D24Likely benign1269959991RCV001492928; NMedGen:CN236805; MONDO:MONDO:0010632,MedGen:C3463992,OMIM:308350; MONDO:MONDO:0014470,MedGen:C3892048,OMIM:616044, Orphanet:9063516255048725504872550487-
NM_001199107.2(TBC1D24):c.1524C>T (p.Val508=)57465TBC1D24Uncertain significance1333624924RCV000698836; NMedGen:CN236805; MONDO:MONDO:0010632,MedGen:C3463992,OMIM:308350; MONDO:MONDO:0014470,MedGen:C3892048,OMIM:616044, Orphanet:90635162550490255049016:g.2550490C>T-C3809181 Caused by mutation in the TBC1 domain family, member 24;
NM_001199107.2(TBC1D24):c.1525G>A (p.Gly509Arg)57465TBC1D24Conflicting interpretations of pathogenicity749994791RCV000488051|RCV000704799|RCV003335374; NMedGen:C3661900|MONDO:MONDO:0010632,MedGen:C3463992,OMIM:308350; MONDO:MONDO:0014470,MedGen:C3892048,OMIM:616044, Orphanet:90635; MedGen:CN236805|MONDO:MONDO:0014133,MedGen:C3809173,OMIM:615338, Orphanet:293181, Orphanet:352596162550491255049116:g.2550491G>AClinGen:CA7844312C3809181 Caused by mutation in the TBC1 domain family, member 24;
NM_001199107.2(TBC1D24):c.1525+6C>T57465TBC1D24Conflicting interpretations of pathogenicity758013935RCV000726024|RCV000810612; NMedGen:C3661900|MONDO:MONDO:0014470,MedGen:C3892048,OMIM:616044, Orphanet:90635; MedGen:CN236805; MONDO:MONDO:0010632,MedGen:C3463992,OMIM:3083501625504972550497NC_000016.9:g.2550497C>TClinGen:CA7844313CN169374 not specified;
NM_001199107.2(TBC1D24):c.1525+7G>A57465TBC1D24Likely benign1041091510RCV000526828; NMONDO:MONDO:0014470,MedGen:C3892048,OMIM:616044, Orphanet:90635; MONDO:MONDO:0010632,MedGen:C3463992,OMIM:308350; MedGen:CN2368051625504982550498NC_000016.9:g.2550498G>AClinGen:CA276810014C3809181 Caused by mutation in the TBC1 domain family, member 24;
NM_001199107.2(TBC1D24):c.1525+13A>C57465TBC1D24Benign/Likely benign751260694RCV000189677|RCV002056977; NMedGen:CN169374|MONDO:MONDO:0010632,MedGen:C3463992,OMIM:308350; MedGen:CN236805; MONDO:MONDO:0014470,MedGen:C3892048,OMIM:616044, Orphanet:906351625505042550504NC_000016.9:g.2550504A>CClinGen:CA319008CN169374 not specified;
NM_001199107.2(TBC1D24):c.1525+16C>T57465TBC1D24Likely benign754724498RCV002113465; NMONDO:MONDO:0010632,MedGen:C3463992,OMIM:308350; MedGen:CN236805; MONDO:MONDO:0014470,MedGen:C3892048,OMIM:616044, Orphanet:9063516255050725505072550507-
NM_001199107.2(TBC1D24):c.1525+17G>A57465TBC1D24Likely benign537260143RCV000428886|RCV002059660; NMedGen:CN169374|MONDO:MONDO:0014470,MedGen:C3892048,OMIM:616044, Orphanet:90635; MONDO:MONDO:0010632,MedGen:C3463992,OMIM:308350; MedGen:CN236805162550508255050816:g.2550508G>AClinGen:CA7844316CN169374 not specified;
NM_001199107.2(TBC1D24):c.1526-20C>T57465TBC1D24Benign114367256RCV000128375|RCV001701525|RCV002055837; NMedGen:CN169374|MedGen:C3661900|MONDO:MONDO:0010632,MedGen:C3463992,OMIM:308350; MONDO:MONDO:0014470,MedGen:C3892048,OMIM:616044, Orphanet:90635; MedGen:CN2368051625507852550785NC_000016.9:g.2550785C>TClinGen:CA293876CN169374 not specified;
NM_001199107.2(TBC1D24):c.1526-13G>A57465TBC1D24Likely benign766052989RCV000423809|RCV002521541; NMedGen:CN169374|MedGen:CN236805; MONDO:MONDO:0014470,MedGen:C3892048,OMIM:616044, Orphanet:90635; MONDO:MONDO:0010632,MedGen:C3463992,OMIM:308350162550792255079216:g.2550792G>AClinGen:CA7844329CN169374 not specified;
NM_001199107.2(TBC1D24):c.1526-3C>T57465TBC1D24Uncertain significance752385354RCV001360519; NMONDO:MONDO:0010632,MedGen:C3463992,OMIM:308350; MONDO:MONDO:0014470,MedGen:C3892048,OMIM:616044, Orphanet:90635; MedGen:CN23680516255080225508022550802-
NM_001199107.2(TBC1D24):c.1526-2A>C57465TBC1D24Conflicting interpretations of pathogenicity1131691552RCV000492822|RCV001230508; NMedGen:CN517202|MONDO:MONDO:0010632,MedGen:C3463992,OMIM:308350; MedGen:CN236805; MONDO:MONDO:0014470,MedGen:C3892048,OMIM:616044, Orphanet:90635162550803255080316:g.2550803A>CClinGen:CA394381435CN517202 not provided;
NM_001199107.2(TBC1D24):c.1526G>T (p.Gly509Val)57465TBC1D24Uncertain significance796053406RCV000189702|RCV001852517; NMedGen:CN517202|MONDO:MONDO:0010632,MedGen:C3463992,OMIM:308350; MONDO:MONDO:0014470,MedGen:C3892048,OMIM:616044, Orphanet:90635; MedGen:CN2368051625508052550805NC_000016.9:g.2550805G>TClinGen:CA319068CN169374 not specified;
NM_001199107.2(TBC1D24):c.1530A>G (p.Gly510=)57465TBC1D24Conflicting interpretations of pathogenicity749232409RCV001733449|RCV002405284|RCV002539831; NMedGen:C3661900|MeSH:D030342,MedGen:C0950123|MedGen:CN236805; MONDO:MONDO:0014470,MedGen:C3892048,OMIM:616044, Orphanet:90635; MONDO:MONDO:0010632,MedGen:C3463992,OMIM:30835016255080925508092550809-
NM_001199107.2(TBC1D24):c.1536C>T (p.Gly512=)57465TBC1D24Conflicting interpretations of pathogenicity757328220RCV001120227|RCV001205948; NMONDO:MONDO:0011506,MedGen:C0917800,OMIM:605021, Orphanet:352582|MONDO:MONDO:0014470,MedGen:C3892048,OMIM:616044, Orphanet:90635; MedGen:CN236805; MONDO:MONDO:0010632,MedGen:C3463992,OMIM:308350162550815255081516:g.2550815C>T-
NM_001199107.2(TBC1D24):c.1537G>A (p.Gly513Ser)57465TBC1D24Uncertain significance779026472RCV001998766; NMONDO:MONDO:0014470,MedGen:C3892048,OMIM:616044, Orphanet:90635; MONDO:MONDO:0010632,MedGen:C3463992,OMIM:308350; MedGen:CN23680516255081625508162550816-
NM_001199107.2(TBC1D24):c.1539C>T (p.Gly513=)57465TBC1D24Likely benign1466557404RCV002019032; NMedGen:CN236805; MONDO:MONDO:0014470,MedGen:C3892048,OMIM:616044, Orphanet:90635; MONDO:MONDO:0010632,MedGen:C3463992,OMIM:30835016255081825508182550818-
NM_001199107.2(TBC1D24):c.1540C>T (p.Gln514Ter)57465TBC1D24Pathogenic746057710RCV001903327; NMONDO:MONDO:0014470,MedGen:C3892048,OMIM:616044, Orphanet:90635; MONDO:MONDO:0010632,MedGen:C3463992,OMIM:308350; MedGen:CN23680516255081925508192550819-
NM_001199107.2(TBC1D24):c.1544C>T (p.Ala515Val)57465TBC1D24Conflicting interpretations of pathogenicity267607105RCV000000066|RCV000540418|RCV000730513|RCV002247226|RCV002399304; NMONDO:MONDO:0011506,MedGen:C0917800,OMIM:605021, Orphanet:352582|MONDO:MONDO:0014470,MedGen:C3892048,OMIM:616044, Orphanet:90635; MedGen:CN236805; MONDO:MONDO:0010632,MedGen:C3463992,OMIM:308350|MedGen:C3661900|MONDO:MONDO:0009079,MedGen:C0795934,OMIM:22050162550823255082316:g.2550823C>TClinGen:CA339786,UniProtKB:Q9ULP9#VAR_064367,OMIM:613577.0002C3809181 Caused by mutation in the TBC1 domain family, member 24;
NM_001199107.2(TBC1D24):c.1547_1562del (p.Leu516fs)57465TBC1D24Pathogenic/Likely pathogenic2065786997RCV001581309|RCV001866104; NMedGen:C3661900|MedGen:CN236805; MONDO:MONDO:0014470,MedGen:C3892048,OMIM:616044, Orphanet:90635; MONDO:MONDO:0010632,MedGen:C3463992,OMIM:30835016255082625508412550825-
NM_001199107.2(TBC1D24):c.1548C>T (p.Leu516=)57465TBC1D24Likely benign1555501692RCV001455512; NMONDO:MONDO:0010632,MedGen:C3463992,OMIM:308350; MONDO:MONDO:0014470,MedGen:C3892048,OMIM:616044, Orphanet:90635; MedGen:CN2368051625508272550827NC_000016.9:g.2550827C>TClinGen:CA493164622C3809181 Caused by mutation in the TBC1 domain family, member 24;
NM_001199107.2(TBC1D24):c.1554C>T (p.Ile518=)57465TBC1D24Conflicting interpretations of pathogenicity369958726RCV000735041|RCV002067178; NMedGen:CN517202|MONDO:MONDO:0010632,MedGen:C3463992,OMIM:308350; MedGen:CN236805; MONDO:MONDO:0014470,MedGen:C3892048,OMIM:616044, Orphanet:906351625508332550833NC_000016.9:g.2550833C>T-
NM_001199107.2(TBC1D24):c.1559G>A (p.Gly520Glu)57465TBC1D24Uncertain significance-1RCV003078319; NMONDO:MONDO:0014470,MedGen:C3892048,OMIM:616044, Orphanet:90635; MedGen:CN236805; MONDO:MONDO:0010632,MedGen:C3463992,OMIM:3083501625508382550838NC_000016.9:g.2550838G>A-
NM_001199107.2(TBC1D24):c.1560G>T (p.Gly520=)57465TBC1D24Uncertain significance971385188RCV001043023; NMONDO:MONDO:0010632,MedGen:C3463992,OMIM:308350; MONDO:MONDO:0014470,MedGen:C3892048,OMIM:616044, Orphanet:90635; MedGen:CN236805162550839255083916:g.2550839G>T-
NM_001199107.2(TBC1D24):c.1561G>A (p.Asp521Asn)57465TBC1D24Uncertain significance2065787303RCV001228395; NMedGen:CN236805; MONDO:MONDO:0010632,MedGen:C3463992,OMIM:308350; MONDO:MONDO:0014470,MedGen:C3892048,OMIM:616044, Orphanet:90635162550840255084016:g.2550840G>A-
NM_001199107.2(TBC1D24):c.1570C>T (p.Arg524Trp)57465TBC1D24Conflicting interpretations of pathogenicity78644690RCV000218064|RCV000867209|RCV001002765|RCV001120531|RCV001589120|RCV002295290|RCV002315673; NMedGen:CN169374|MONDO:MONDO:0014470,MedGen:C3892048,OMIM:616044, Orphanet:90635; MONDO:MONDO:0010632,MedGen:C3463992,OMIM:308350; MedGen:CN236805|MONDO:MONDO:0014470,MedGen:C3892048,OMIM:616044, Orphanet:90635|MONDO:MONDO:0011506,MedGen:C0917800,OMIM:605021162550849255084916:g.2550849C>TClinGen:CA7844347CN169374 not specified;
NM_001199107.2(TBC1D24):c.1571G>A (p.Arg524Gln)57465TBC1D24Uncertain significance758997013RCV000820925|RCV001575450|RCV002537482; NMONDO:MONDO:0014470,MedGen:C3892048,OMIM:616044, Orphanet:90635; MedGen:CN236805; MONDO:MONDO:0010632,MedGen:C3463992,OMIM:308350|MedGen:CN517202|MeSH:D030342,MedGen:C0950123162550850255085016:g.2550850G>A-
NM_001199107.2(TBC1D24):c.1574del (p.Gly525fs)57465TBC1D24Pathogenic-1RCV002890177; NMedGen:CN236805; MONDO:MONDO:0010632,MedGen:C3463992,OMIM:308350; MONDO:MONDO:0014470,MedGen:C3892048,OMIM:616044, Orphanet:906351625508502550850NC_000016.9:g.2550853del-
NM_001199107.2(TBC1D24):c.1574G>A (p.Gly525Asp)57465TBC1D24Uncertain significance-1RCV002739995; NMONDO:MONDO:0014470,MedGen:C3892048,OMIM:616044, Orphanet:90635; MedGen:CN236805; MONDO:MONDO:0010632,MedGen:C3463992,OMIM:3083501625508532550853NC_000016.9:g.2550853G>A-
NM_001199107.2(TBC1D24):c.1576C>T (p.Arg526Cys)57465TBC1D24Uncertain significance767145914RCV000604516|RCV001868032; NMedGen:CN169374|MONDO:MONDO:0010632,MedGen:C3463992,OMIM:308350; MedGen:CN236805; MONDO:MONDO:0014470,MedGen:C3892048,OMIM:616044, Orphanet:90635162550855255085516:g.2550855C>TClinGen:CA7844349CN169374 not specified;
NM_001199107.2(TBC1D24):c.1577G>A (p.Arg526His)57465TBC1D24Uncertain significance752301570RCV000528924|RCV001764611; NMONDO:MONDO:0010632,MedGen:C3463992,OMIM:308350; MedGen:CN236805; MONDO:MONDO:0014470,MedGen:C3892048,OMIM:616044, Orphanet:90635|MedGen:C36619001625508562550856NC_000016.9:g.2550856G>AClinGen:CA7844350C3809181 Caused by mutation in the TBC1 domain family, member 24;
NM_001199107.2(TBC1D24):c.1581A>G (p.Thr527=)57465TBC1D24Likely benign1217553094RCV001445345; NMONDO:MONDO:0014470,MedGen:C3892048,OMIM:616044, Orphanet:90635; MONDO:MONDO:0010632,MedGen:C3463992,OMIM:308350; MedGen:CN23680516255086025508602550860-
NM_001199107.2(TBC1D24):c.1582A>G (p.Ser528Gly)57465TBC1D24Uncertain significance-1RCV003033514; NMONDO:MONDO:0014470,MedGen:C3892048,OMIM:616044, Orphanet:90635; MONDO:MONDO:0010632,MedGen:C3463992,OMIM:308350; MedGen:CN2368051625508612550861NC_000016.9:g.2550861A>G-
NM_001199107.2(TBC1D24):c.1583G>A (p.Ser528Asn)57465TBC1D24Uncertain significance-1RCV002982568; NMedGen:CN236805; MONDO:MONDO:0010632,MedGen:C3463992,OMIM:308350; MONDO:MONDO:0014470,MedGen:C3892048,OMIM:616044, Orphanet:906351625508622550862NC_000016.9:g.2550862G>A-
NM_001199107.2(TBC1D24):c.1590C>T (p.Cys530=)57465TBC1D24Likely benign1060502501RCV001454146; NMONDO:MONDO:0014470,MedGen:C3892048,OMIM:616044, Orphanet:90635; MONDO:MONDO:0010632,MedGen:C3463992,OMIM:308350; MedGen:CN2368051625508692550869NC_000016.9:g.2550869C>TClinGen:CA16615138C3809181 Caused by mutation in the TBC1 domain family, member 24;
NM_001199107.2(TBC1D24):c.1590C>G (p.Cys530Trp)57465TBC1D24Conflicting interpretations of pathogenicity1060502501RCV000460066|RCV000658119; NMONDO:MONDO:0010632,MedGen:C3463992,OMIM:308350; MedGen:CN236805; MONDO:MONDO:0014470,MedGen:C3892048,OMIM:616044, Orphanet:90635|MedGen:CN5172021625508692550869NC_000016.9:g.2550869C>GClinGen:CA16615321C3809181 Caused by mutation in the TBC1 domain family, member 24;
NM_001199107.2(TBC1D24):c.1591G>A (p.Asp531Asn)57465TBC1D24Uncertain significance757236821RCV002034802|RCV002545281; NMedGen:C3661900|MONDO:MONDO:0010632,MedGen:C3463992,OMIM:308350; MedGen:CN236805; MONDO:MONDO:0014470,MedGen:C3892048,OMIM:616044, Orphanet:9063516255087025508702550870-
NM_001199107.2(TBC1D24):c.1591G>T (p.Asp531Tyr)57465TBC1D24Uncertain significance-1RCV002801932; NMONDO:MONDO:0014470,MedGen:C3892048,OMIM:616044, Orphanet:90635; MedGen:CN236805; MONDO:MONDO:0010632,MedGen:C3463992,OMIM:3083501625508702550870NC_000016.9:g.2550870G>T-
NM_001199107.2(TBC1D24):c.1601A>G (p.Asn534Ser)57465TBC1D24Uncertain significance-1RCV002775037; NMONDO:MONDO:0014470,MedGen:C3892048,OMIM:616044, Orphanet:90635; MedGen:CN236805; MONDO:MONDO:0010632,MedGen:C3463992,OMIM:3083501625508802550880NC_000016.9:g.2550880A>G-
NM_001199107.2(TBC1D24):c.1606del (p.Gln536fs)57465TBC1D24Uncertain significance1567414972RCV000713764|RCV001861997; NMedGen:CN517202|MONDO:MONDO:0010632,MedGen:C3463992,OMIM:308350; MONDO:MONDO:0014470,MedGen:C3892048,OMIM:616044, Orphanet:90635; MedGen:CN2368051625508842550884NC_000016.9:g.2550885del-
NM_001199107.2(TBC1D24):c.1609C>T (p.Pro537Ser)57465TBC1D24Uncertain significance2065788002RCV001242981; NMONDO:MONDO:0010632,MedGen:C3463992,OMIM:308350; MedGen:CN236805; MONDO:MONDO:0014470,MedGen:C3892048,OMIM:616044, Orphanet:90635162550888255088816:g.2550888C>T-
NM_001199107.2(TBC1D24):c.1610C>A (p.Pro537His)57465TBC1D24Uncertain significance-1RCV002727144; NMONDO:MONDO:0014470,MedGen:C3892048,OMIM:616044, Orphanet:90635; MedGen:CN236805; MONDO:MONDO:0010632,MedGen:C3463992,OMIM:3083501625508892550889NC_000016.9:g.2550889C>A-
NM_001199107.2(TBC1D24):c.1620C>T (p.Ser540=)57465TBC1D24Conflicting interpretations of pathogenicity781723084RCV000431896|RCV000651580|RCV000728076; NMedGen:CN169374|MedGen:CN236805; MONDO:MONDO:0014470,MedGen:C3892048,OMIM:616044, Orphanet:90635; MONDO:MONDO:0010632,MedGen:C3463992,OMIM:308350|MedGen:CN517202162550899255089916:g.2550899C>TClinGen:CA7844361C3809181 Caused by mutation in the TBC1 domain family, member 24;
NM_001199107.2(TBC1D24):c.1623G>A (p.Glu541=)57465TBC1D24Likely benign1596973590RCV000996173|RCV002068724; NMedGen:C3661900|MONDO:MONDO:0014470,MedGen:C3892048,OMIM:616044, Orphanet:90635; MONDO:MONDO:0010632,MedGen:C3463992,OMIM:308350; MedGen:CN236805162550902255090216:g.2550902G>A-
NM_001199107.2(TBC1D24):c.1627T>C (p.Phe543Leu)57465TBC1D24Uncertain significance1060502502RCV000477080; NMONDO:MONDO:0010632,MedGen:C3463992,OMIM:308350; MedGen:CN236805; MONDO:MONDO:0014470,MedGen:C3892048,OMIM:616044, Orphanet:906351625509062550906NC_000016.9:g.2550906T>CClinGen:CA16614891C3809181 Caused by mutation in the TBC1 domain family, member 24;
NM_001199107.2(TBC1D24):c.1633A>G (p.Ile545Val)57465TBC1D24Uncertain significance773874436RCV000438532|RCV001851091|RCV002481344; NMedGen:CN517202|MedGen:CN236805; MONDO:MONDO:0010632,MedGen:C3463992,OMIM:308350; MONDO:MONDO:0014470,MedGen:C3892048,OMIM:616044, Orphanet:90635|6 conditions162550912255091216:g.2550912A>GClinGen:CA7844365CN169374 not specified;
NM_001199107.2(TBC1D24):c.1633A>T (p.Ile545Phe)57465TBC1D24Uncertain significance-1RCV002706499; NMONDO:MONDO:0014470,MedGen:C3892048,OMIM:616044, Orphanet:90635; MedGen:CN236805; MONDO:MONDO:0010632,MedGen:C3463992,OMIM:3083501625509122550912NC_000016.9:g.2550912A>T-
NM_001199107.2(TBC1D24):c.1641C>A (p.Ala547=)57465TBC1D24Likely benign553215090RCV000541384|RCV001703557|RCV002318401; NMedGen:CN236805; MONDO:MONDO:0014470,MedGen:C3892048,OMIM:616044, Orphanet:90635; MONDO:MONDO:0010632,MedGen:C3463992,OMIM:308350|MedGen:C3661900|MeSH:D030342,MedGen:C0950123162550920255092016:g.2550920C>AClinGen:CA7844368C3809181 Caused by mutation in the TBC1 domain family, member 24;
NM_001199107.2(TBC1D24):c.1641C>T (p.Ala547=)57465TBC1D24Likely benign553215090RCV000841850|RCV002067544; NMedGen:CN517202|MONDO:MONDO:0014470,MedGen:C3892048,OMIM:616044, Orphanet:90635; MONDO:MONDO:0010632,MedGen:C3463992,OMIM:308350; MedGen:CN236805162550920255092016:g.2550920C>T-
NM_001199107.2(TBC1D24):c.1642G>A (p.Val548Met)57465TBC1D24Conflicting interpretations of pathogenicity201649140RCV000444565|RCV000727315|RCV001083452|RCV001120532|RCV002314161; NMedGen:CN169374|MedGen:C3661900|MedGen:CN236805; MONDO:MONDO:0014470,MedGen:C3892048,OMIM:616044, Orphanet:90635; MONDO:MONDO:0010632,MedGen:C3463992,OMIM:308350|MONDO:MONDO:0011506,MedGen:C0917800,OMIM:605021, Orphanet:352582|MeSH:D030342,MedGen:C0950123162550921255092116:g.2550921G>AClinGen:CA7844370C3809181 Caused by mutation in the TBC1 domain family, member 24;
NM_001199107.2(TBC1D24):c.1655G>T (p.Gly552Val)57465TBC1D24Uncertain significance-1RCV002614198; NMedGen:CN236805; MONDO:MONDO:0014470,MedGen:C3892048,OMIM:616044, Orphanet:90635; MONDO:MONDO:0010632,MedGen:C3463992,OMIM:3083501625509342550934NC_000016.9:g.2550934G>T-
NM_001199107.2(TBC1D24):c.1675C>T (p.Gln559Ter)57465TBC1D24Uncertain significance1253505916RCV000722412|RCV002533066; NMedGen:CN517202|MONDO:MONDO:0010632,MedGen:C3463992,OMIM:308350; MedGen:CN236805; MONDO:MONDO:0014470,MedGen:C3892048,OMIM:616044, Orphanet:906351625509542550954NC_000016.9:g.2550954C>T-
NM_001199107.2(TBC1D24):c.1676A>G (p.Gln559Arg)57465TBC1D24Uncertain significance1427285339RCV001895770; NMONDO:MONDO:0010632,MedGen:C3463992,OMIM:308350; MedGen:CN236805; MONDO:MONDO:0014470,MedGen:C3892048,OMIM:616044, Orphanet:9063516255095525509552550955-
NC_000016.9:g.(?_78133656)_(78466669_?)dup51741WWOXUncertain significance-1RCV000535735; NMONDO:MONDO:0013687,MedGen:C3280452,OMIM:614322, Orphanet:284282; MONDO:MONDO:0010632,MedGen:C3463992,OMIM:308350167813365678466669-C3463992 308350 Epileptic encephalopathy, early infantile, 1;
NC_000016.9:g.(?_78133656)_(78133806_?)dup51741WWOXUncertain significance-1RCV000707900; NMONDO:MONDO:0013687,MedGen:C3280452,OMIM:614322, Orphanet:284282; MONDO:MONDO:0010632,MedGen:C3463992,OMIM:308350167813365678133806-C3463992 308350 Epileptic encephalopathy, early infantile, 1;
NC_000016.9:g.(?_78133656)_(78658393_?)dup51741WWOXUncertain significance-1RCV000708017; NMONDO:MONDO:0013687,MedGen:C3280452,OMIM:614322, Orphanet:284282; MONDO:MONDO:0010632,MedGen:C3463992,OMIM:308350167813365678658393-C3463992 308350 Epileptic encephalopathy, early infantile, 1;
NC_000016.9:g.(?_78133656)_(78149071_?)dup51741WWOXUncertain significance-1RCV000818555; NMONDO:MONDO:0013687,MedGen:C3280452,OMIM:614322, Orphanet:284282; MONDO:MONDO:0010632,MedGen:C3463992,OMIM:308350167813365678149071-
NC_000016.10:g.(?_78099759)_(78099909_?)del51741WWOXPathogenic-1RCV001032111; NMONDO:MONDO:0013687,MedGen:C3280452,OMIM:614322, Orphanet:284282; MONDO:MONDO:0010632,MedGen:C3463992,OMIM:308350167813365678133806-1-
NC_000016.10:g.(?_78099759)_(78115174_?)del51741WWOXPathogenic-1RCV001031172; NMONDO:MONDO:0013687,MedGen:C3280452,OMIM:614322, Orphanet:284282; MONDO:MONDO:0010632,MedGen:C3463992,OMIM:308350167813365678149071-1-
NC_000016.10:g.(?_78099759)_(78432772_?)del51741WWOXPathogenic-1RCV001033320; NMONDO:MONDO:0010632,MedGen:C3463992,OMIM:308350; MONDO:MONDO:0013687,MedGen:C3280452,OMIM:614322, Orphanet:284282167813365678466669-1-
NC_000016.9:g.(?_78133656)_(78458972_?)dup51741WWOXUncertain significance-1RCV001362950; NMONDO:MONDO:0013687,MedGen:C3280452,OMIM:614322, Orphanet:284282; MONDO:MONDO:0010632,MedGen:C3463992,OMIM:308350167813365678458972-1-
NM_016373.4(WWOX):c.-5C>T51741WWOXBenign11545028RCV000244538|RCV000714212|RCV001510044|RCV002244632|RCV002244633; NMedGen:CN169374|MedGen:C3661900|MONDO:MONDO:0010632,MedGen:C3463992,OMIM:308350; MONDO:MONDO:0013687,MedGen:C3280452,OMIM:614322, Orphanet:284282|MONDO:MONDO:0013687,MedGen:C3280452,OMIM:614322, Orphanet:284282|MONDO:MONDO:0014533,MedGen:C4015519,OMIM:616216781336717813367116:g.78133671C>TClinGen:CA8182971CN169374 not specified;
NC_000016.9:g.(?_78133671)_(78466659_?)dup51741WWOXUncertain significance-1RCV001305352; NMONDO:MONDO:0010632,MedGen:C3463992,OMIM:308350; MONDO:MONDO:0013687,MedGen:C3280452,OMIM:614322, Orphanet:284282167813367178466659-1-
NC_000016.9:g.(?_78133671)_(78149061_?)del51741WWOXPathogenic-1RCV001390383; NMONDO:MONDO:0010632,MedGen:C3463992,OMIM:308350; MONDO:MONDO:0013687,MedGen:C3280452,OMIM:614322, Orphanet:284282167813367178149061-1-
NC_000016.9:g.(?_78133676)_(79633799_?)del51741WWOXPathogenic-1RCV003119738; NMONDO:MONDO:0010632,MedGen:C3463992,OMIM:308350; MONDO:MONDO:0013687,MedGen:C3280452,OMIM:614322, Orphanet:284282167813367679633799-
NC_000016.9:g.(?_78133676)_(78420865_?)dup51741WWOXUncertain significance-1RCV003119741; NMONDO:MONDO:0010632,MedGen:C3463992,OMIM:308350; MONDO:MONDO:0013687,MedGen:C3280452,OMIM:614322, Orphanet:284282167813367678420865-
NC_000016.9:g.(?_78133676)_(78466669_?)dup51741WWOXUncertain significance-1RCV003119743; NMONDO:MONDO:0010632,MedGen:C3463992,OMIM:308350; MONDO:MONDO:0013687,MedGen:C3280452,OMIM:614322, Orphanet:284282167813367678466669-
NM_016373.4(WWOX):c.1A>C (p.Met1Leu)51741WWOXPathogenic-1RCV002780125; NMONDO:MONDO:0013687,MedGen:C3280452,OMIM:614322, Orphanet:284282; MONDO:MONDO:0010632,MedGen:C3463992,OMIM:308350167813367678133676NC_000016.9:g.78133676A>C-
NM_016373.4(WWOX):c.2T>C (p.Met1Thr)51741WWOXPathogenic-1RCV002570027; NMONDO:MONDO:0013687,MedGen:C3280452,OMIM:614322, Orphanet:284282; MONDO:MONDO:0010632,MedGen:C3463992,OMIM:308350167813367778133677NC_000016.9:g.78133677T>C-
NM_016373.4(WWOX):c.7G>A (p.Ala3Thr)51741WWOXUncertain significance1336300148RCV000533127|RCV001764599; NMONDO:MONDO:0013687,MedGen:C3280452,OMIM:614322, Orphanet:284282; MONDO:MONDO:0010632,MedGen:C3463992,OMIM:308350|MedGen:CN517202167813368278133682NC_000016.9:g.78133682G>AClinGen:CA396841736C3463992 308350 Epileptic encephalopathy, early infantile, 1;
NM_016373.4(WWOX):c.7G>T (p.Ala3Ser)51741WWOXUncertain significance1336300148RCV001064413; NMONDO:MONDO:0010632,MedGen:C3463992,OMIM:308350; MONDO:MONDO:0013687,MedGen:C3280452,OMIM:614322, Orphanet:28428216781336827813368216:g.78133682G>T-
NM_016373.4(WWOX):c.8C>T (p.Ala3Val)51741WWOXUncertain significance1241157001RCV000812755; NMONDO:MONDO:0013687,MedGen:C3280452,OMIM:614322, Orphanet:284282; MONDO:MONDO:0010632,MedGen:C3463992,OMIM:30835016781336837813368316:g.78133683C>T-
NM_016373.4(WWOX):c.9G>C (p.Ala3=)51741WWOXLikely benign778036247RCV000419940|RCV002059785; NMedGen:CN169374|MONDO:MONDO:0013687,MedGen:C3280452,OMIM:614322, Orphanet:284282; MONDO:MONDO:0010632,MedGen:C3463992,OMIM:30835016781336847813368416:g.78133684G>CClinGen:CA8182974CN169374 not specified;
NM_016373.4(WWOX):c.10C>G (p.Leu4Val)51741WWOXUncertain significance751733610RCV001969933|RCV002562839; NMONDO:MONDO:0010632,MedGen:C3463992,OMIM:308350; MONDO:MONDO:0013687,MedGen:C3280452,OMIM:614322, Orphanet:284282|MeSH:D030342,MedGen:C095012316781336857813368578133685-
NM_016373.4(WWOX):c.12G>A (p.Leu4=)51741WWOXLikely benign2151651643RCV002165033; NMONDO:MONDO:0010632,MedGen:C3463992,OMIM:308350; MONDO:MONDO:0013687,MedGen:C3280452,OMIM:614322, Orphanet:28428216781336877813368778133687-
NM_016373.4(WWOX):c.15C>G (p.Arg5=)51741WWOXUncertain significance2031625331RCV001067789; NMONDO:MONDO:0010632,MedGen:C3463992,OMIM:308350; MONDO:MONDO:0013687,MedGen:C3280452,OMIM:614322, Orphanet:28428216781336907813369016:g.78133690C>G-
NM_016373.4(WWOX):c.18C>T (p.Tyr6=)51741WWOXLikely benign-1RCV002609754; NMONDO:MONDO:0013687,MedGen:C3280452,OMIM:614322, Orphanet:284282; MONDO:MONDO:0010632,MedGen:C3463992,OMIM:308350167813369378133693-
NM_016373.4(WWOX):c.19G>A (p.Ala7Thr)51741WWOXUncertain significance371392600RCV001957246; NMONDO:MONDO:0010632,MedGen:C3463992,OMIM:308350; MONDO:MONDO:0013687,MedGen:C3280452,OMIM:614322, Orphanet:28428216781336947813369478133694-
NM_016373.4(WWOX):c.24G>A (p.Gly8=)51741WWOXLikely benign960284644RCV001482697; NMONDO:MONDO:0010632,MedGen:C3463992,OMIM:308350; MONDO:MONDO:0013687,MedGen:C3280452,OMIM:614322, Orphanet:28428216781336997813369916:g.78133699G>A-
NM_016373.4(WWOX):c.28G>C (p.Asp10His)51741WWOXUncertain significance781180473RCV001244041|RCV003284115; NMONDO:MONDO:0010632,MedGen:C3463992,OMIM:308350; MONDO:MONDO:0013687,MedGen:C3280452,OMIM:614322, Orphanet:284282|MeSH:D030342,MedGen:C095012316781337037813370316:g.78133703G>C-
NM_016373.4(WWOX):c.30C>T (p.Asp10=)51741WWOXLikely benign373146723RCV002182441; NMONDO:MONDO:0010632,MedGen:C3463992,OMIM:308350; MONDO:MONDO:0013687,MedGen:C3280452,OMIM:614322, Orphanet:28428216781337057813370578133705-
NM_016373.4(WWOX):c.32A>T (p.Asp11Val)51741WWOXUncertain significance1597189624RCV000805638; NMONDO:MONDO:0010632,MedGen:C3463992,OMIM:308350; MONDO:MONDO:0013687,MedGen:C3280452,OMIM:614322, Orphanet:28428216781337077813370716:g.78133707A>T-
NM_016373.4(WWOX):c.35C>G (p.Thr12Arg)51741WWOXConflicting interpretations of pathogenicity1567567249RCV000690341|RCV002286420; NMONDO:MONDO:0013687,MedGen:C3280452,OMIM:614322, Orphanet:284282; MONDO:MONDO:0010632,MedGen:C3463992,OMIM:308350|MONDO:MONDO:0013687,MedGen:C3280452,OMIM:614322, Orphanet:28428216781337107813371016:g.78133710C>G-C3463992 308350 Epileptic encephalopathy, early infantile, 1;
NM_016373.4(WWOX):c.36G>C (p.Thr12=)51741WWOXLikely benign1438602210RCV000650214; NMONDO:MONDO:0013687,MedGen:C3280452,OMIM:614322, Orphanet:284282; MONDO:MONDO:0010632,MedGen:C3463992,OMIM:30835016781337117813371116:g.78133711G>CClinGen:CA496609358C3463992 308350 Epileptic encephalopathy, early infantile, 1;
NM_016373.4(WWOX):c.36G>T (p.Thr12=)51741WWOXLikely benign1438602210RCV002155497; NMONDO:MONDO:0010632,MedGen:C3463992,OMIM:308350; MONDO:MONDO:0013687,MedGen:C3280452,OMIM:614322, Orphanet:28428216781337117813371178133711-
NM_016373.4(WWOX):c.36G>A (p.Thr12=)51741WWOXLikely benign1438602210RCV002098959; NMONDO:MONDO:0010632,MedGen:C3463992,OMIM:308350; MONDO:MONDO:0013687,MedGen:C3280452,OMIM:614322, Orphanet:28428216781337117813371178133711-
NM_016373.4(WWOX):c.46_49del (p.Asp16fs)51741WWOXPathogenic730880291RCV000157087|RCV001850176; NMONDO:MONDO:0014533,MedGen:C4015519,OMIM:616211, Orphanet:442835|MONDO:MONDO:0010632,MedGen:C3463992,OMIM:308350; MONDO:MONDO:0013687,MedGen:C3280452,OMIM:614322, Orphanet:28428216781337207813372316:g.78133720_78133723delClinGen:CA213107,OMIM:605131.0009C4015519 616211 Epileptic encephalopathy, early infantile, 28;
NM_016373.4(WWOX):c.45G>T (p.Glu15Asp)51741WWOXUncertain significance770319919RCV001070799; NMONDO:MONDO:0010632,MedGen:C3463992,OMIM:308350; MONDO:MONDO:0013687,MedGen:C3280452,OMIM:614322, Orphanet:28428216781337207813372016:g.78133720G>T-
NM_016373.4(WWOX):c.45G>A (p.Glu15=)51741WWOXLikely benign770319919RCV002079174; NMONDO:MONDO:0010632,MedGen:C3463992,OMIM:308350; MONDO:MONDO:0013687,MedGen:C3280452,OMIM:614322, Orphanet:28428216781337207813372078133720-
NM_016373.4(WWOX):c.49G>A (p.Glu17Lys)51741WWOXConflicting interpretations of pathogenicity780345312RCV001823026|RCV001869806; NMONDO:MONDO:0014533,MedGen:C4015519,OMIM:616211, Orphanet:442835|MONDO:MONDO:0010632,MedGen:C3463992,OMIM:308350; MONDO:MONDO:0013687,MedGen:C3280452,OMIM:614322, Orphanet:28428216781337247813372478133724-
NM_016373.4(WWOX):c.51G>T (p.Glu17Asp)51741WWOXUncertain significance991773402RCV000551267|RCV003153725; NMONDO:MONDO:0013687,MedGen:C3280452,OMIM:614322, Orphanet:284282; MONDO:MONDO:0010632,MedGen:C3463992,OMIM:308350|MedGen:CN51720216781337267813372616:g.78133726G>TClinGen:CA284502472C3463992 308350 Epileptic encephalopathy, early infantile, 1;
NM_016373.4(WWOX):c.52C>A (p.Leu18Met)51741WWOXUncertain significance776553279RCV000690342; NMONDO:MONDO:0013687,MedGen:C3280452,OMIM:614322, Orphanet:284282; MONDO:MONDO:0010632,MedGen:C3463992,OMIM:308350167813372778133727NC_000016.9:g.78133727C>A-C3463992 308350 Epileptic encephalopathy, early infantile, 1;
NM_016373.4(WWOX):c.52C>G (p.Leu18Val)51741WWOXUncertain significance776553279RCV001341234; NMONDO:MONDO:0013687,MedGen:C3280452,OMIM:614322, Orphanet:284282; MONDO:MONDO:0010632,MedGen:C3463992,OMIM:30835016781337277813372778133727-
NM_016373.4(WWOX):c.59C>T (p.Pro20Leu)51741WWOXUncertain significance761638116RCV001053713|RCV002481980|RCV003141985|RCV002553761; NMONDO:MONDO:0010632,MedGen:C3463992,OMIM:308350; MONDO:MONDO:0013687,MedGen:C3280452,OMIM:614322, Orphanet:284282|MONDO:MONDO:0007576,MedGen:C0546837,OMIM:133239, Orphanet:99977; MONDO:MONDO:0013687,MedGen:C3280452,OMIM:614322, Orphanet:284282; MONDO:MONDO:0016781337347813373416:g.78133734C>T-
NM_016373.4(WWOX):c.59C>G (p.Pro20Arg)51741WWOXUncertain significance761638116RCV001964208; NMONDO:MONDO:0010632,MedGen:C3463992,OMIM:308350; MONDO:MONDO:0013687,MedGen:C3280452,OMIM:614322, Orphanet:28428216781337347813373478133734-
NM_016373.4(WWOX):c.60G>C (p.Pro20=)51741WWOXLikely benign376165565RCV000863160|RCV001576815; NMONDO:MONDO:0010632,MedGen:C3463992,OMIM:308350; MONDO:MONDO:0013687,MedGen:C3280452,OMIM:614322, Orphanet:284282|MedGen:C366190016781337357813373516:g.78133735G>C-
NM_016373.4(WWOX):c.66G>T (p.Trp22Cys)51741WWOXUncertain significance1231403909RCV001969693; NMONDO:MONDO:0013687,MedGen:C3280452,OMIM:614322, Orphanet:284282; MONDO:MONDO:0010632,MedGen:C3463992,OMIM:30835016781337417813374178133741-
NM_016373.4(WWOX):c.72G>A (p.Glu24=)51741WWOXLikely benign1255601873RCV002201052; NMONDO:MONDO:0010632,MedGen:C3463992,OMIM:308350; MONDO:MONDO:0013687,MedGen:C3280452,OMIM:614322, Orphanet:28428216781337477813374778133747-
NM_016373.4(WWOX):c.77CCA[1] (p.Thr27del)51741WWOXUncertain significance763124571RCV001343112; NMONDO:MONDO:0013687,MedGen:C3280452,OMIM:614322, Orphanet:284282; MONDO:MONDO:0010632,MedGen:C3463992,OMIM:30835016781337517813375378133750-
NM_016373.4(WWOX):c.78C>T (p.Thr26=)51741WWOXLikely benign761493229RCV000870475|RCV002064652; NMONDO:MONDO:0010632,MedGen:C3463992,OMIM:308350; MONDO:MONDO:0013687,MedGen:C3280452,OMIM:614322, Orphanet:284282|MedGen:C366190016781337537813375316:g.78133753C>T-
NM_016373.4(WWOX):c.81C>A (p.Thr27=)51741WWOXLikely benign-1RCV002894471; NMONDO:MONDO:0013687,MedGen:C3280452,OMIM:614322, Orphanet:284282; MONDO:MONDO:0010632,MedGen:C3463992,OMIM:308350167813375678133756-
NM_016373.4(WWOX):c.82A>C (p.Lys28Gln)51741WWOXUncertain significance771726317RCV001059820|RCV001760018|RCV002553872; NMONDO:MONDO:0013687,MedGen:C3280452,OMIM:614322, Orphanet:284282; MONDO:MONDO:0010632,MedGen:C3463992,OMIM:308350|MedGen:C3661900|MeSH:D030342,MedGen:C095012316781337577813375716:g.78133757A>C-
NM_016373.4(WWOX):c.82A>G (p.Lys28Glu)51741WWOXUncertain significance-1RCV003111859; NMONDO:MONDO:0013687,MedGen:C3280452,OMIM:614322, Orphanet:284282; MONDO:MONDO:0010632,MedGen:C3463992,OMIM:308350167813375778133757NC_000016.9:g.78133757A>G-
NM_016373.4(WWOX):c.90C>T (p.Gly30=)51741WWOXLikely benign772839022RCV000650197; NMONDO:MONDO:0013687,MedGen:C3280452,OMIM:614322, Orphanet:284282; MONDO:MONDO:0010632,MedGen:C3463992,OMIM:30835016781337657813376516:g.78133765C>TClinGen:CA8182988C3463992 308350 Epileptic encephalopathy, early infantile, 1;
NM_016373.4(WWOX):c.94G>A (p.Val32Ile)51741WWOXUncertain significance2031635728RCV001366966; NMONDO:MONDO:0013687,MedGen:C3280452,OMIM:614322, Orphanet:284282; MONDO:MONDO:0010632,MedGen:C3463992,OMIM:30835016781337697813376978133769-
NM_016373.4(WWOX):c.99C>T (p.Tyr33=)51741WWOXLikely benign760762887RCV001402746; NMONDO:MONDO:0010632,MedGen:C3463992,OMIM:308350; MONDO:MONDO:0013687,MedGen:C3280452,OMIM:614322, Orphanet:284282167813377478133774NC_000016.9:g.78133774C>TClinGen:CA8182989C3463992 308350 Epileptic encephalopathy, early infantile, 1;
NM_016373.4(WWOX):c.101A>G (p.Tyr34Cys)51741WWOXUncertain significance766309882RCV000230460; NMONDO:MONDO:0013687,MedGen:C3280452,OMIM:614322, Orphanet:284282; MONDO:MONDO:0010632,MedGen:C3463992,OMIM:30835016781337767813377616:g.78133776A>GClinGen:CA10583429C3463992 308350 Epileptic encephalopathy, early infantile, 1;
NM_016373.4(WWOX):c.106A>G (p.Asn36Asp)51741WWOXUncertain significance1385155926RCV001207166|RCV002561245; NMONDO:MONDO:0013687,MedGen:C3280452,OMIM:614322, Orphanet:284282; MONDO:MONDO:0010632,MedGen:C3463992,OMIM:308350|MeSH:D030342,MedGen:C095012316781337817813378116:g.78133781A>G-
NM_016373.4(WWOX):c.107A>T (p.Asn36Ile)51741WWOXUncertain significance1316489119RCV001867126; NMONDO:MONDO:0013687,MedGen:C3280452,OMIM:614322, Orphanet:284282; MONDO:MONDO:0010632,MedGen:C3463992,OMIM:30835016781337827813378278133782-
NM_016373.4(WWOX):c.107+1G>A51741WWOXPathogenic/Likely pathogenic1300924648RCV000850618|RCV000989638|RCV001858475|RCV002252255|RCV003332268; NMONDO:MONDO:0013687,MedGen:C3280452,OMIM:614322, Orphanet:284282; MONDO:MONDO:0014533,MedGen:C4015519,OMIM:616211, Orphanet:442835|MONDO:MONDO:0010632,MedGen:C3463992,OMIM:308350|MONDO:MONDO:0013687,MedGen:C3280452,OMIM:614322, Orphanet:284282; MONDO:MONDO:016781337837813378316:g.78133783G>A-
NM_016373.4(WWOX):c.107+9del51741WWOXBenign2151651994RCV002096675; NMONDO:MONDO:0013687,MedGen:C3280452,OMIM:614322, Orphanet:284282; MONDO:MONDO:0010632,MedGen:C3463992,OMIM:30835016781337877813378778133786-
NM_016373.4(WWOX):c.107+6G>A51741WWOXUncertain significance1276657647RCV001367732; NMONDO:MONDO:0013687,MedGen:C3280452,OMIM:614322, Orphanet:284282; MONDO:MONDO:0010632,MedGen:C3463992,OMIM:30835016781337887813378878133788-
NM_016373.4(WWOX):c.107+12G>T51741WWOXLikely benign753626622RCV002184749; NMONDO:MONDO:0010632,MedGen:C3463992,OMIM:308350; MONDO:MONDO:0013687,MedGen:C3280452,OMIM:614322, Orphanet:28428216781337947813379478133794-
NM_016373.4(WWOX):c.107+13C>T51741WWOXLikely benign-1RCV003083111; NMONDO:MONDO:0013687,MedGen:C3280452,OMIM:614322, Orphanet:284282; MONDO:MONDO:0010632,MedGen:C3463992,OMIM:308350167813379578133795NC_000016.9:g.78133795C>T-
NM_016373.4(WWOX):c.107+15G>A51741WWOXLikely benign-1RCV002828307; NMONDO:MONDO:0013687,MedGen:C3280452,OMIM:614322, Orphanet:284282; MONDO:MONDO:0010632,MedGen:C3463992,OMIM:308350167813379778133797NC_000016.9:g.78133797G>A-
NM_016373.4(WWOX):c.107+16T>G51741WWOXLikely benign1313734754RCV002133176; NMONDO:MONDO:0013687,MedGen:C3280452,OMIM:614322, Orphanet:284282; MONDO:MONDO:0010632,MedGen:C3463992,OMIM:30835016781337987813379878133798-
NM_016373.4(WWOX):c.107+17G>C51741WWOXLikely benign-1RCV002616137; NMONDO:MONDO:0013687,MedGen:C3280452,OMIM:614322, Orphanet:284282; MONDO:MONDO:0010632,MedGen:C3463992,OMIM:308350167813379978133799NC_000016.9:g.78133799G>C-
NM_016373.4(WWOX):c.107+18G>A51741WWOXBenign/Likely benign146301453RCV000423386|RCV002065075|RCV002244900|RCV002244901; NMedGen:CN169374|MONDO:MONDO:0010632,MedGen:C3463992,OMIM:308350; MONDO:MONDO:0013687,MedGen:C3280452,OMIM:614322, Orphanet:284282|MONDO:MONDO:0013687,MedGen:C3280452,OMIM:614322, Orphanet:284282|MONDO:MONDO:0014533,MedGen:C4015519,OMIM:616211, Orphanet:442816781338007813380016:g.78133800G>AClinGen:CA8182993CN169374 not specified;
NM_016373.4(WWOX):c.108-20G>A51741WWOXLikely benign760210735RCV002150922; NMONDO:MONDO:0010632,MedGen:C3463992,OMIM:308350; MONDO:MONDO:0013687,MedGen:C3280452,OMIM:614322, Orphanet:28428216781423007814230078142300-
NM_016373.4(WWOX):c.108-13dup51741WWOXBenign146697931RCV001511253|RCV000836291|RCV002245706|RCV002245707; NMONDO:MONDO:0013687,MedGen:C3280452,OMIM:614322, Orphanet:284282; MONDO:MONDO:0010632,MedGen:C3463992,OMIM:308350|MedGen:C3661900|MONDO:MONDO:0013687,MedGen:C3280452,OMIM:614322, Orphanet:284282|MONDO:MONDO:0014533,MedGen:C4015519,OMIM:616211, Orphanet:442816781423017814230216:g.78142301_78142302insT-
NM_016373.4(WWOX):c.108-14_108-13dup51741WWOXBenign/Likely benign146697931RCV001552196|RCV002072049|RCV002243301|RCV002243302; NMedGen:C3661900|MONDO:MONDO:0010632,MedGen:C3463992,OMIM:308350; MONDO:MONDO:0013687,MedGen:C3280452,OMIM:614322, Orphanet:284282|MONDO:MONDO:0013687,MedGen:C3280452,OMIM:614322, Orphanet:284282|MONDO:MONDO:0014533,MedGen:C4015519,OMIM:616211, Orphanet:442816781423017814230278142301-
NM_016373.4(WWOX):c.108-19A>T51741WWOXLikely benign-1RCV002666670; NMONDO:MONDO:0013687,MedGen:C3280452,OMIM:614322, Orphanet:284282; MONDO:MONDO:0010632,MedGen:C3463992,OMIM:308350167814230178142301NC_000016.9:g.78142301A>T-
NM_016373.4(WWOX):c.108-12_108-11del51741WWOXLikely benign756598479RCV002094184; NMONDO:MONDO:0010632,MedGen:C3463992,OMIM:308350; MONDO:MONDO:0013687,MedGen:C3280452,OMIM:614322, Orphanet:28428216781423077814230878142306-
NM_016373.4(WWOX):c.108-12G>T51741WWOXBenign67493355RCV000252444|RCV001510045|RCV002244637|RCV002244636; NMedGen:CN169374|MONDO:MONDO:0013687,MedGen:C3280452,OMIM:614322, Orphanet:284282; MONDO:MONDO:0010632,MedGen:C3463992,OMIM:308350|MONDO:MONDO:0014533,MedGen:C4015519,OMIM:616211, Orphanet:442835|MONDO:MONDO:0013687,MedGen:C3280452,OMIM:614322, Orphanet:284216781423087814230816:g.78142308G>TClinGen:CA8183014CN169374 not specified;
NM_016373.4(WWOX):c.108-12del51741WWOXBenign149533117RCV000485409|RCV001510854|RCV002244947|RCV002244948; NMedGen:CN169374|MONDO:MONDO:0010632,MedGen:C3463992,OMIM:308350; MONDO:MONDO:0013687,MedGen:C3280452,OMIM:614322, Orphanet:284282|MONDO:MONDO:0013687,MedGen:C3280452,OMIM:614322, Orphanet:284282|MONDO:MONDO:0014533,MedGen:C4015519,OMIM:616211, Orphanet:4428167814230878142308NC_000016.9:g.78142308delClinGen:CA8183013CN169374 not specified;
NM_016373.4(WWOX):c.108-6dup51741WWOXBenign/Likely benign754221329RCV001704617|RCV002056769|RCV002244951|RCV002244950; NMedGen:C3661900|MONDO:MONDO:0010632,MedGen:C3463992,OMIM:308350; MONDO:MONDO:0013687,MedGen:C3280452,OMIM:614322, Orphanet:284282|MONDO:MONDO:0014533,MedGen:C4015519,OMIM:616211, Orphanet:442835|MONDO:MONDO:0013687,MedGen:C3280452,OMIM:614322, Orphanet:2842167814230878142309NC_000016.9:g.78142314dupClinGen:CA8183015CN169374 not specified;
NM_016373.4(WWOX):c.108-12G>C51741WWOXLikely benign-1RCV003031967; NMONDO:MONDO:0013687,MedGen:C3280452,OMIM:614322, Orphanet:284282; MONDO:MONDO:0010632,MedGen:C3463992,OMIM:308350167814230878142308NC_000016.9:g.78142308G>C-
NC_000016.9:g.(?_78142310)_(78142394_?)del51741WWOXPathogenic-1RCV001951203; NMONDO:MONDO:0013687,MedGen:C3280452,OMIM:614322, Orphanet:284282; MONDO:MONDO:0010632,MedGen:C3463992,OMIM:308350167814231078142394-1-
NM_016373.4(WWOX):c.108-7T>C51741WWOXLikely benign2151665632RCV001489974; NMONDO:MONDO:0013687,MedGen:C3280452,OMIM:614322, Orphanet:284282; MONDO:MONDO:0010632,MedGen:C3463992,OMIM:30835016781423137814231378142313-
NM_016373.4(WWOX):c.108-3C>T51741WWOXUncertain significance1163967827RCV001300979; NMONDO:MONDO:0010632,MedGen:C3463992,OMIM:308350; MONDO:MONDO:0013687,MedGen:C3280452,OMIM:614322, Orphanet:28428216781423177814231778142317-
NM_016373.4(WWOX):c.108_112dup (p.Thr38fs)51741WWOXPathogenic-1RCV002666550; NMONDO:MONDO:0013687,MedGen:C3280452,OMIM:614322, Orphanet:284282; MONDO:MONDO:0010632,MedGen:C3463992,OMIM:308350167814231978142320NC_000016.9:g.78142320_78142324dup-
NM_016373.4(WWOX):c.109C>G (p.His37Asp)51741WWOXUncertain significance770653451RCV001056009; NMONDO:MONDO:0010632,MedGen:C3463992,OMIM:308350; MONDO:MONDO:0013687,MedGen:C3280452,OMIM:614322, Orphanet:28428216781423217814232116:g.78142321C>G-
NM_016373.4(WWOX):c.115GAG[1] (p.Glu40del)51741WWOXUncertain significance1301923654RCV001300161; NMONDO:MONDO:0010632,MedGen:C3463992,OMIM:308350; MONDO:MONDO:0013687,MedGen:C3280452,OMIM:614322, Orphanet:28428216781423277814232978142326-
NM_016373.4(WWOX):c.117G>A (p.Glu39=)51741WWOXLikely benign368245025RCV002106015; NMONDO:MONDO:0010632,MedGen:C3463992,OMIM:308350; MONDO:MONDO:0013687,MedGen:C3280452,OMIM:614322, Orphanet:28428216781423297814232978142329-
NM_016373.4(WWOX):c.127C>T (p.Gln43Ter)51741WWOXPathogenic1284883505RCV001380098; NMONDO:MONDO:0010632,MedGen:C3463992,OMIM:308350; MONDO:MONDO:0013687,MedGen:C3280452,OMIM:614322, Orphanet:28428216781423397814233978142339-
NM_016373.4(WWOX):c.128A>G (p.Gln43Arg)51741WWOXUncertain significance754384834RCV000692651; NMONDO:MONDO:0013687,MedGen:C3280452,OMIM:614322, Orphanet:284282; MONDO:MONDO:0010632,MedGen:C3463992,OMIM:30835016781423407814234016:g.78142340A>G-C3463992 308350 Epileptic encephalopathy, early infantile, 1;
NM_016373.4(WWOX):c.131G>A (p.Trp44Ter)51741WWOXPathogenic1057517846RCV000414691|RCV001850983; NMedGen:CN517202|MONDO:MONDO:0010632,MedGen:C3463992,OMIM:308350; MONDO:MONDO:0013687,MedGen:C3280452,OMIM:614322, Orphanet:284282167814234378142343NC_000016.9:g.78142343G>AClinGen:CA16042955
NM_016373.4(WWOX):c.136C>T (p.His46Tyr)51741WWOXLikely pathogenic1597207871RCV000989639; NMONDO:MONDO:0010632,MedGen:C3463992,OMIM:30835016781423487814234816:g.78142348C>T-
NM_016373.4(WWOX):c.146C>G (p.Thr49Ser)51741WWOXUncertain significance-1RCV003029012; NMONDO:MONDO:0013687,MedGen:C3280452,OMIM:614322, Orphanet:284282; MONDO:MONDO:0010632,MedGen:C3463992,OMIM:308350167814235878142358NC_000016.9:g.78142358C>G-
NM_016373.4(WWOX):c.152A>G (p.Lys51Arg)51741WWOXUncertain significance2032292763RCV001228391|RCV002249816; NMONDO:MONDO:0013687,MedGen:C3280452,OMIM:614322, Orphanet:284282; MONDO:MONDO:0010632,MedGen:C3463992,OMIM:308350|MedGen:CN16937416781423647814236416:g.78142364A>G-
NM_016373.4(WWOX):c.160C>T (p.Arg54Ter)51741WWOXPathogenic587777248RCV000106406|RCV000824131; NMONDO:MONDO:0014533,MedGen:C4015519,OMIM:616211, Orphanet:442835|MONDO:MONDO:0010632,MedGen:C3463992,OMIM:308350; MONDO:MONDO:0013687,MedGen:C3280452,OMIM:614322, Orphanet:284282167814237278142372NC_000016.9:g.78142372C>TClinGen:CA150822,OMIM:605131.0004C4015519 616211 Epileptic encephalopathy, early infantile, 28;
NM_016373.4(WWOX):c.160C>A (p.Arg54=)51741WWOXLikely benign587777248RCV001412392; NMONDO:MONDO:0010632,MedGen:C3463992,OMIM:308350; MONDO:MONDO:0013687,MedGen:C3280452,OMIM:614322, Orphanet:28428216781423727814237278142372-
NM_016373.4(WWOX):c.164T>G (p.Val55Gly)51741WWOXUncertain significance775944673RCV001318965; NMONDO:MONDO:0013687,MedGen:C3280452,OMIM:614322, Orphanet:284282; MONDO:MONDO:0010632,MedGen:C3463992,OMIM:30835016781423767814237678142376-
NM_016373.4(WWOX):c.164T>C (p.Val55Ala)51741WWOXUncertain significance775944673RCV001914195; NMONDO:MONDO:0013687,MedGen:C3280452,OMIM:614322, Orphanet:284282; MONDO:MONDO:0010632,MedGen:C3463992,OMIM:30835016781423767814237678142376-
NM_016373.4(WWOX):c.165G>A (p.Val55=)51741WWOXLikely benign-1RCV002609372; NMONDO:MONDO:0013687,MedGen:C3280452,OMIM:614322, Orphanet:284282; MONDO:MONDO:0010632,MedGen:C3463992,OMIM:308350167814237778142377-
NM_016373.4(WWOX):c.167C>T (p.Ala56Val)51741WWOXUncertain significance530912550RCV000807035; NMONDO:MONDO:0010632,MedGen:C3463992,OMIM:308350; MONDO:MONDO:0013687,MedGen:C3280452,OMIM:614322, Orphanet:28428216781423797814237916:g.78142379C>T-
NM_016373.4(WWOX):c.172+7A>G51741WWOXLikely benign1307853735RCV000932435; NMONDO:MONDO:0010632,MedGen:C3463992,OMIM:308350; MONDO:MONDO:0013687,MedGen:C3280452,OMIM:614322, Orphanet:28428216781423917814239116:g.78142391A>G-
NM_016373.4(WWOX):c.172+9G>A51741WWOXLikely benign1220647416RCV000552662; NMONDO:MONDO:0013687,MedGen:C3280452,OMIM:614322, Orphanet:284282; MONDO:MONDO:0010632,MedGen:C3463992,OMIM:30835016781423937814239316:g.78142393G>AClinGen:CA658658502C3463992 308350 Epileptic encephalopathy, early infantile, 1;
NM_016373.4(WWOX):c.172+10T>A51741WWOXLikely benign2032295814RCV001406816; NMONDO:MONDO:0013687,MedGen:C3280452,OMIM:614322, Orphanet:284282; MONDO:MONDO:0010632,MedGen:C3463992,OMIM:30835016781423947814239478142394-
NM_016373.4(WWOX):c.172+19A>G51741WWOXLikely benign1198975338RCV002118652; NMONDO:MONDO:0010632,MedGen:C3463992,OMIM:308350; MONDO:MONDO:0013687,MedGen:C3280452,OMIM:614322, Orphanet:28428216781424037814240378142403-
NM_016373.4(WWOX):c.173-20C>G51741WWOXLikely benign-1RCV002627738; NMONDO:MONDO:0013687,MedGen:C3280452,OMIM:614322, Orphanet:284282; MONDO:MONDO:0010632,MedGen:C3463992,OMIM:308350167814365578143655NC_000016.9:g.78143655C>G-
NM_016373.4(WWOX):c.173-11T>C51741WWOXLikely benign370729028RCV001704360|RCV002063368; NMedGen:C3661900|MONDO:MONDO:0013687,MedGen:C3280452,OMIM:614322, Orphanet:284282; MONDO:MONDO:0010632,MedGen:C3463992,OMIM:30835016781436647814366416:g.78143664T>CClinGen:CA8183072CN169374 not specified;
NM_016373.4(WWOX):c.173-10T>G51741WWOXLikely benign960259890RCV001228442; NMONDO:MONDO:0013687,MedGen:C3280452,OMIM:614322, Orphanet:284282; MONDO:MONDO:0010632,MedGen:C3463992,OMIM:30835016781436657814366516:g.78143665T>G-
NM_016373.4(WWOX):c.173-9G>A51741WWOXLikely benign768579025RCV001423504; NMONDO:MONDO:0013687,MedGen:C3280452,OMIM:614322, Orphanet:284282; MONDO:MONDO:0010632,MedGen:C3463992,OMIM:30835016781436667814366678143666-
NM_016373.4(WWOX):c.173-6T>G51741WWOXConflicting interpretations of pathogenicity200812468RCV000692826|RCV001335816|RCV001252636|RCV002532222|RCV003148830; NMONDO:MONDO:0010632,MedGen:C3463992,OMIM:308350; MONDO:MONDO:0013687,MedGen:C3280452,OMIM:614322, Orphanet:284282|MONDO:MONDO:0014533,MedGen:C4015519,OMIM:616211, Orphanet:442835|MONDO:MONDO:0010632,MedGen:C3463992,OMIM:308350|MeSH:D030342,MedGen:C0950123|167814366978143669NC_000016.9:g.78143669T>G-C3463992 308350 Epileptic encephalopathy, early infantile, 1;
NM_016373.4(WWOX):c.173-1G>T51741WWOXPathogenic-1RCV003064358; NMONDO:MONDO:0013687,MedGen:C3280452,OMIM:614322, Orphanet:284282; MONDO:MONDO:0010632,MedGen:C3463992,OMIM:308350167814367478143674NC_000016.9:g.78143674G>T-
NM_016373.4(WWOX):c.173-1G>C51741WWOXPathogenic-1RCV003042824; NMONDO:MONDO:0013687,MedGen:C3280452,OMIM:614322, Orphanet:284282; MONDO:MONDO:0010632,MedGen:C3463992,OMIM:308350167814367478143674NC_000016.9:g.78143674G>C-
NM_016373.4(WWOX):c.173A>G (p.Asp58Gly)51741WWOXUncertain significance2032380473RCV001206284; NMONDO:MONDO:0013687,MedGen:C3280452,OMIM:614322, Orphanet:284282; MONDO:MONDO:0010632,MedGen:C3463992,OMIM:30835016781436757814367516:g.78143675A>G-
NM_016373.4(WWOX):c.177G>C (p.Leu59Phe)51741WWOXUncertain significance771850922RCV000684970; NMONDO:MONDO:0013687,MedGen:C3280452,OMIM:614322, Orphanet:284282; MONDO:MONDO:0010632,MedGen:C3463992,OMIM:308350167814367978143679NC_000016.9:g.78143679G>C-C3463992 308350 Epileptic encephalopathy, early infantile, 1;
NM_016373.4(WWOX):c.183C>T (p.Tyr61=)51741WWOXLikely benign759766243RCV001474061; NMONDO:MONDO:0013687,MedGen:C3280452,OMIM:614322, Orphanet:284282; MONDO:MONDO:0010632,MedGen:C3463992,OMIM:30835016781436857814368578143685-
NM_016373.4(WWOX):c.184G>A (p.Gly62Arg)51741WWOXUncertain significance775696083RCV001208003|RCV003353210; NMONDO:MONDO:0013687,MedGen:C3280452,OMIM:614322, Orphanet:284282; MONDO:MONDO:0010632,MedGen:C3463992,OMIM:308350|MeSH:D030342,MedGen:C095012316781436867814368616:g.78143686G>A-
NM_016373.4(WWOX):c.184G>C (p.Gly62Arg)51741WWOXUncertain significance775696083RCV001907442; NMONDO:MONDO:0013687,MedGen:C3280452,OMIM:614322, Orphanet:284282; MONDO:MONDO:0010632,MedGen:C3463992,OMIM:30835016781436867814368678143686-
NM_016373.4(WWOX):c.193C>A (p.Gln65Lys)51741WWOXUncertain significance558101281RCV001060587|RCV001759816; NMONDO:MONDO:0010632,MedGen:C3463992,OMIM:308350; MONDO:MONDO:0013687,MedGen:C3280452,OMIM:614322, Orphanet:284282|MedGen:CN51720216781436957814369516:g.78143695C>A-
NM_016373.4(WWOX):c.200C>G (p.Thr67Ser)51741WWOXUncertain significance752003995RCV002044206; NMONDO:MONDO:0010632,MedGen:C3463992,OMIM:308350; MONDO:MONDO:0013687,MedGen:C3280452,OMIM:614322, Orphanet:28428216781437027814370278143702-
NM_016373.4(WWOX):c.202G>T (p.Asp68Tyr)51741WWOXUncertain significance2032382985RCV001318171; NMONDO:MONDO:0013687,MedGen:C3280452,OMIM:614322, Orphanet:284282; MONDO:MONDO:0010632,MedGen:C3463992,OMIM:30835016781437047814370478143704-
NM_016373.4(WWOX):c.203A>G (p.Asp68Gly)51741WWOXUncertain significance1567575033RCV000707012; NMONDO:MONDO:0010632,MedGen:C3463992,OMIM:308350; MONDO:MONDO:0013687,MedGen:C3280452,OMIM:614322, Orphanet:28428216781437057814370516:g.78143705A>G-C3463992 308350 Epileptic encephalopathy, early infantile, 1;
NM_016373.4(WWOX):c.210C>T (p.Asn70=)51741WWOXLikely benign762102064RCV000530935; NMONDO:MONDO:0013687,MedGen:C3280452,OMIM:614322, Orphanet:284282; MONDO:MONDO:0010632,MedGen:C3463992,OMIM:30835016781437127814371216:g.78143712C>TClinGen:CA8183084C3463992 308350 Epileptic encephalopathy, early infantile, 1;
NM_016373.4(WWOX):c.211G>A (p.Gly71Arg)51741WWOXUncertain significance767880120RCV001988383; NMONDO:MONDO:0010632,MedGen:C3463992,OMIM:308350; MONDO:MONDO:0013687,MedGen:C3280452,OMIM:614322, Orphanet:28428216781437137814371378143713-
NM_016373.4(WWOX):c.214C>T (p.Gln72Ter)51741WWOXPathogenic/Likely pathogenic201008667RCV000521914|RCV000798699|RCV002527597; NMedGen:CN517202|MONDO:MONDO:0010632,MedGen:C3463992,OMIM:308350; MONDO:MONDO:0013687,MedGen:C3280452,OMIM:614322, Orphanet:284282|MONDO:MONDO:0014533,MedGen:C4015519,OMIM:616211, Orphanet:442835167814371678143716NC_000016.9:g.78143716C>TClinGen:CA8183087
NM_016373.4(WWOX):c.214C>G (p.Gln72Glu)51741WWOXUncertain significance201008667RCV001070124|RCV002554595; NMONDO:MONDO:0010632,MedGen:C3463992,OMIM:308350; MONDO:MONDO:0013687,MedGen:C3280452,OMIM:614322, Orphanet:284282|MeSH:D030342,MedGen:C095012316781437167814371616:g.78143716C>G-
NM_016373.4(WWOX):c.216A>G (p.Gln72=)51741WWOXLikely benign754962104RCV001438924; NMONDO:MONDO:0013687,MedGen:C3280452,OMIM:614322, Orphanet:284282; MONDO:MONDO:0010632,MedGen:C3463992,OMIM:30835016781437187814371878143718-
NM_016373.4(WWOX):c.222T>C (p.Phe74=)51741WWOXLikely benign748079925RCV000611033|RCV001425247; NMedGen:CN169374|MONDO:MONDO:0013687,MedGen:C3280452,OMIM:614322, Orphanet:284282; MONDO:MONDO:0010632,MedGen:C3463992,OMIM:30835016781437247814372416:g.78143724T>CClinGen:CA8183092CN169374 not specified;
NM_016373.4(WWOX):c.228T>C (p.Val76=)51741WWOXConflicting interpretations of pathogenicity370579498RCV000650217|RCV001335817; NMONDO:MONDO:0013687,MedGen:C3280452,OMIM:614322, Orphanet:284282; MONDO:MONDO:0010632,MedGen:C3463992,OMIM:308350|MONDO:MONDO:0014533,MedGen:C4015519,OMIM:616211, Orphanet:44283516781437307814373016:g.78143730T>CClinGen:CA8183093C3463992 308350 Epileptic encephalopathy, early infantile, 1;
NM_016373.4(WWOX):c.228T>A (p.Val76=)51741WWOXLikely benign370579498RCV001910848; NMONDO:MONDO:0010632,MedGen:C3463992,OMIM:308350; MONDO:MONDO:0013687,MedGen:C3280452,OMIM:614322, Orphanet:28428216781437307814373078143730-
NM_016373.4(WWOX):c.230A>G (p.Asp77Gly)51741WWOXUncertain significance2032385595RCV001960872; NMONDO:MONDO:0013687,MedGen:C3280452,OMIM:614322, Orphanet:284282; MONDO:MONDO:0010632,MedGen:C3463992,OMIM:30835016781437327814373278143732-
NM_016373.4(WWOX):c.230+3A>T51741WWOXUncertain significance746149234RCV001993936; NMONDO:MONDO:0010632,MedGen:C3463992,OMIM:308350; MONDO:MONDO:0013687,MedGen:C3280452,OMIM:614322, Orphanet:28428216781437357814373578143735-
NM_016373.4(WWOX):c.230+6T>C51741WWOXUncertain significance-1RCV002922356; NMONDO:MONDO:0013687,MedGen:C3280452,OMIM:614322, Orphanet:284282; MONDO:MONDO:0010632,MedGen:C3463992,OMIM:308350167814373878143738NC_000016.9:g.78143738T>C-
NM_016373.4(WWOX):c.230+9C>T51741WWOXLikely benign1254974575RCV001468260; NMONDO:MONDO:0010632,MedGen:C3463992,OMIM:308350; MONDO:MONDO:0013687,MedGen:C3280452,OMIM:614322, Orphanet:28428216781437417814374178143741-
NC_000016.9:g.(?_78148853)_(78149071_?)del51741WWOXPathogenic-1RCV003119739; NMONDO:MONDO:0013687,MedGen:C3280452,OMIM:614322, Orphanet:284282; MONDO:MONDO:0010632,MedGen:C3463992,OMIM:308350167814885378149071-
NC_000016.9:g.(?_78148853)_(78198206_?)del51741WWOXPathogenic-1RCV003119740; NMONDO:MONDO:0010632,MedGen:C3463992,OMIM:308350; MONDO:MONDO:0013687,MedGen:C3280452,OMIM:614322, Orphanet:284282167814885378198206-
NM_016373.4(WWOX):c.231-18G>T51741WWOXLikely benign-1RCV002611740; NMONDO:MONDO:0013687,MedGen:C3280452,OMIM:614322, Orphanet:284282; MONDO:MONDO:0010632,MedGen:C3463992,OMIM:308350167814885578148855NC_000016.9:g.78148855G>T-
NM_016373.4(WWOX):c.231-17C>A51741WWOXLikely benign372361154RCV000443186|RCV000514717|RCV002059855; NMedGen:CN169374|MedGen:C3661900|MONDO:MONDO:0013687,MedGen:C3280452,OMIM:614322, Orphanet:284282; MONDO:MONDO:0010632,MedGen:C3463992,OMIM:30835016781488567814885616:g.78148856C>AClinGen:CA8183118CN517202 not provided;
NM_016373.4(WWOX):c.231-16T>C51741WWOXLikely benign376333974RCV002107303; NMONDO:MONDO:0010632,MedGen:C3463992,OMIM:308350; MONDO:MONDO:0013687,MedGen:C3280452,OMIM:614322, Orphanet:28428216781488577814885778148857-
NM_016373.4(WWOX):c.231-11C>G51741WWOXLikely benign372011945RCV000605184|RCV002065388; NMedGen:CN169374|MONDO:MONDO:0010632,MedGen:C3463992,OMIM:308350; MONDO:MONDO:0013687,MedGen:C3280452,OMIM:614322, Orphanet:28428216781488627814886216:g.78148862C>GClinGen:CA8183122CN169374 not specified;
NM_016373.4(WWOX):c.231-9T>C51741WWOXLikely benign766689304RCV001476780; NMONDO:MONDO:0010632,MedGen:C3463992,OMIM:308350; MONDO:MONDO:0013687,MedGen:C3280452,OMIM:614322, Orphanet:28428216781488647814886478148864-
NM_016373.4(WWOX):c.231-8T>G51741WWOXLikely benign776271651RCV000981850; NMONDO:MONDO:0013687,MedGen:C3280452,OMIM:614322, Orphanet:284282; MONDO:MONDO:0010632,MedGen:C3463992,OMIM:30835016781488657814886516:g.78148865T>G-
NM_016373.4(WWOX):c.231-6G>T51741WWOXLikely benign987981847RCV001416533; NMONDO:MONDO:0010632,MedGen:C3463992,OMIM:308350; MONDO:MONDO:0013687,MedGen:C3280452,OMIM:614322, Orphanet:28428216781488677814886778148867-
NM_016373.4(WWOX):c.231-5G>A51741WWOXUncertain significance-1RCV003058183; NMONDO:MONDO:0013687,MedGen:C3280452,OMIM:614322, Orphanet:284282; MONDO:MONDO:0010632,MedGen:C3463992,OMIM:308350167814886878148868NC_000016.9:g.78148868G>A-
NM_016373.4(WWOX):c.233A>G (p.His78Arg)51741WWOXUncertain significance375002918RCV001314008; NMONDO:MONDO:0010632,MedGen:C3463992,OMIM:308350; MONDO:MONDO:0013687,MedGen:C3280452,OMIM:614322, Orphanet:28428216781488757814887578148875-
NM_016373.4(WWOX):c.248C>T (p.Thr83Ile)51741WWOXUncertain significance751493396RCV000810787; NMONDO:MONDO:0010632,MedGen:C3463992,OMIM:308350; MONDO:MONDO:0013687,MedGen:C3280452,OMIM:614322, Orphanet:28428216781488907814889016:g.78148890C>T-
NM_016373.4(WWOX):c.251C>G (p.Thr84Ser)51741WWOXUncertain significance757145186RCV000489268|RCV000650199; NMedGen:CN517202|MONDO:MONDO:0010632,MedGen:C3463992,OMIM:308350; MONDO:MONDO:0013687,MedGen:C3280452,OMIM:614322, Orphanet:28428216781488937814889316:g.78148893C>GClinGen:CA8183131C3463992 308350 Epileptic encephalopathy, early infantile, 1;
NM_016373.4(WWOX):c.253T>G (p.Tyr85Asp)51741WWOXUncertain significance781063964RCV001374566|RCV001751527|RCV002541577; NMONDO:MONDO:0003582,MeSH:D061325,MedGen:C0677776, Orphanet:145|MedGen:C3661900|MONDO:MONDO:0010632,MedGen:C3463992,OMIM:308350; MONDO:MONDO:0013687,MedGen:C3280452,OMIM:614322, Orphanet:28428216781488957814889578148895-
NM_016373.4(WWOX):c.255C>G (p.Tyr85Ter)51741WWOXPathogenic990150249RCV000487411|RCV001221428; NMedGen:CN517202|MONDO:MONDO:0010632,MedGen:C3463992,OMIM:308350; MONDO:MONDO:0013687,MedGen:C3280452,OMIM:614322, Orphanet:284282167814889778148897NC_000016.9:g.78148897C>GClinGen:CA16620273
NM_016373.4(WWOX):c.261C>G (p.Asp87Glu)51741WWOXUncertain significance368902462RCV001990051; NMONDO:MONDO:0010632,MedGen:C3463992,OMIM:308350; MONDO:MONDO:0013687,MedGen:C3280452,OMIM:614322, Orphanet:28428216781489037814890378148903-
NM_016373.4(WWOX):c.261C>T (p.Asp87=)51741WWOXLikely benign-1RCV002635277; NMONDO:MONDO:0013687,MedGen:C3280452,OMIM:614322, Orphanet:284282; MONDO:MONDO:0010632,MedGen:C3463992,OMIM:308350167814890378148903-
NM_016373.4(WWOX):c.262C>A (p.Pro88Thr)51741WWOXUncertain significance-1RCV002922678; NMONDO:MONDO:0013687,MedGen:C3280452,OMIM:614322, Orphanet:284282; MONDO:MONDO:0010632,MedGen:C3463992,OMIM:308350167814890478148904NC_000016.9:g.78148904C>A-
NM_016373.4(WWOX):c.263C>G (p.Pro88Arg)51741WWOXUncertain significance200371768RCV001870939; NMONDO:MONDO:0010632,MedGen:C3463992,OMIM:308350; MONDO:MONDO:0013687,MedGen:C3280452,OMIM:614322, Orphanet:28428216781489057814890578148905-
NM_016373.4(WWOX):c.266G>A (p.Arg89Lys)51741WWOXUncertain significance2151674621RCV002013108; NMONDO:MONDO:0010632,MedGen:C3463992,OMIM:308350; MONDO:MONDO:0013687,MedGen:C3280452,OMIM:614322, Orphanet:28428216781489087814890878148908-
NM_016373.4(WWOX):c.272C>T (p.Ala91Val)51741WWOXUncertain significance-1RCV002751520; NMONDO:MONDO:0013687,MedGen:C3280452,OMIM:614322, Orphanet:284282; MONDO:MONDO:0010632,MedGen:C3463992,OMIM:308350167814891478148914NC_000016.9:g.78148914C>T-
NM_016373.4(WWOX):c.273G>A (p.Ala91=)51741WWOXLikely benign778288592RCV000966563; NMONDO:MONDO:0010632,MedGen:C3463992,OMIM:308350; MONDO:MONDO:0013687,MedGen:C3280452,OMIM:614322, Orphanet:28428216781489157814891516:g.78148915G>A-
NM_016373.4(WWOX):c.276T>C (p.Phe92=)51741WWOXLikely benign-1RCV002871207; NMONDO:MONDO:0013687,MedGen:C3280452,OMIM:614322, Orphanet:284282; MONDO:MONDO:0010632,MedGen:C3463992,OMIM:308350167814891878148918-
NM_016373.4(WWOX):c.282G>A (p.Val94=)51741WWOXUncertain significance771301969RCV001930718; NMONDO:MONDO:0010632,MedGen:C3463992,OMIM:308350; MONDO:MONDO:0013687,MedGen:C3280452,OMIM:614322, Orphanet:28428216781489247814892478148924-
NC_000016.9:g.(?_78148926)_(78166880_?)del51741WWOXLikely pathogenic-1RCV002031050; NMONDO:MONDO:0010632,MedGen:C3463992,OMIM:308350; MONDO:MONDO:0013687,MedGen:C3280452,OMIM:614322, Orphanet:284282167814892678166880-1-
NM_016373.4(WWOX):c.286G>A (p.Asp96Asn)51741WWOXUncertain significance1461547362RCV001307270; NMONDO:MONDO:0010632,MedGen:C3463992,OMIM:308350; MONDO:MONDO:0013687,MedGen:C3280452,OMIM:614322, Orphanet:28428216781489287814892878148928-
NM_016373.4(WWOX):c.287A>G (p.Asp96Gly)51741WWOXUncertain significance776969977RCV000996345|RCV001359029; NMedGen:C3661900|MONDO:MONDO:0013687,MedGen:C3280452,OMIM:614322, Orphanet:284282; MONDO:MONDO:0010632,MedGen:C3463992,OMIM:30835016781489297814892916:g.78148929A>G-
NM_016373.4(WWOX):c.287A>T (p.Asp96Val)51741WWOXUncertain significance776969977RCV001878967; NMONDO:MONDO:0010632,MedGen:C3463992,OMIM:308350; MONDO:MONDO:0013687,MedGen:C3280452,OMIM:614322, Orphanet:28428216781489297814892978148929-
NM_016373.4(WWOX):c.293C>T (p.Pro98Leu)51741WWOXBenign144601717RCV000231056|RCV000248929|RCV000710288|RCV002243912|RCV002243913; NMONDO:MONDO:0010632,MedGen:C3463992,OMIM:308350; MONDO:MONDO:0013687,MedGen:C3280452,OMIM:614322, Orphanet:284282|MedGen:CN169374|MedGen:C3661900|MONDO:MONDO:0013687,MedGen:C3280452,OMIM:614322, Orphanet:284282|MONDO:MONDO:0014533,MedGen:C4015519,OMIM:616216781489357814893516:g.78148935C>TClinGen:CA8183142,UniProtKB:Q9NZC7#VAR_023916C3463992 308350 Epileptic encephalopathy, early infantile, 1;
NM_016373.4(WWOX):c.294G>C (p.Pro98=)51741WWOXLikely benign200208343RCV000650213; NMONDO:MONDO:0013687,MedGen:C3280452,OMIM:614322, Orphanet:284282; MONDO:MONDO:0010632,MedGen:C3463992,OMIM:30835016781489367814893616:g.78148936G>CClinGen:CA8183143C3463992 308350 Epileptic encephalopathy, early infantile, 1;
NM_016373.4(WWOX):c.294G>A (p.Pro98=)51741WWOXLikely benign-1RCV002833780; NMONDO:MONDO:0013687,MedGen:C3280452,OMIM:614322, Orphanet:284282; MONDO:MONDO:0010632,MedGen:C3463992,OMIM:308350167814893678148936-
NM_016373.4(WWOX):c.301C>G (p.Pro101Ala)51741WWOXUncertain significance574637594RCV000805431|RCV003225127; NMONDO:MONDO:0010632,MedGen:C3463992,OMIM:308350; MONDO:MONDO:0013687,MedGen:C3280452,OMIM:614322, Orphanet:284282|MedGen:C366190016781489437814894316:g.78148943C>G-
NM_016373.4(WWOX):c.301C>T (p.Pro101Ser)51741WWOXUncertain significance574637594RCV001057539; NMONDO:MONDO:0010632,MedGen:C3463992,OMIM:308350; MONDO:MONDO:0013687,MedGen:C3280452,OMIM:614322, Orphanet:28428216781489437814894316:g.78148943C>T-
NM_016373.4(WWOX):c.303A>G (p.Pro101=)51741WWOXLikely benign761783544RCV002172210; NMONDO:MONDO:0010632,MedGen:C3463992,OMIM:308350; MONDO:MONDO:0013687,MedGen:C3280452,OMIM:614322, Orphanet:28428216781489457814894578148945-
NM_016373.4(WWOX):c.305C>T (p.Thr102Ile)51741WWOXUncertain significance2032705453RCV001306130; NMONDO:MONDO:0010632,MedGen:C3463992,OMIM:308350; MONDO:MONDO:0013687,MedGen:C3280452,OMIM:614322, Orphanet:28428216781489477814894778148947-
NM_016373.4(WWOX):c.310C>T (p.Arg104Trp)51741WWOXUncertain significance750226191RCV000545689|RCV001755886; NMONDO:MONDO:0013687,MedGen:C3280452,OMIM:614322, Orphanet:284282; MONDO:MONDO:0010632,MedGen:C3463992,OMIM:308350|MedGen:CN51720216781489527814895216:g.78148952C>TClinGen:CA8183151C3463992 308350 Epileptic encephalopathy, early infantile, 1;
NM_016373.4(WWOX):c.310C>A (p.Arg104=)51741WWOXLikely benign750226191RCV000904772|RCV001475063; NMedGen:CN517202|MONDO:MONDO:0010632,MedGen:C3463992,OMIM:308350; MONDO:MONDO:0013687,MedGen:C3280452,OMIM:614322, Orphanet:28428216781489527814895216:g.78148952C>A-
NM_016373.4(WWOX):c.311G>A (p.Arg104Gln)51741WWOXConflicting interpretations of pathogenicity199625891RCV001247071|RCV002568673; NMONDO:MONDO:0010632,MedGen:C3463992,OMIM:308350; MONDO:MONDO:0013687,MedGen:C3280452,OMIM:614322, Orphanet:284282|MeSH:D030342,MedGen:C095012316781489537814895316:g.78148953G>A-
NM_016373.4(WWOX):c.315A>G (p.Gln105=)51741WWOXLikely benign752822745RCV001059587|RCV001697432; NMONDO:MONDO:0013687,MedGen:C3280452,OMIM:614322, Orphanet:284282; MONDO:MONDO:0010632,MedGen:C3463992,OMIM:308350|MedGen:C366190016781489577814895716:g.78148957A>GClinGen:CA8183153CN169374 not specified;
NM_016373.4(WWOX):c.319T>G (p.Tyr107Asp)51741WWOXUncertain significance2151674746RCV001888671; NMONDO:MONDO:0010632,MedGen:C3463992,OMIM:308350; MONDO:MONDO:0013687,MedGen:C3280452,OMIM:614322, Orphanet:28428216781489617814896178148961-
NM_016373.4(WWOX):c.321C>T (p.Tyr107=)51741WWOXLikely benign373306276RCV000560369; NMONDO:MONDO:0013687,MedGen:C3280452,OMIM:614322, Orphanet:284282; MONDO:MONDO:0010632,MedGen:C3463992,OMIM:308350167814896378148963NC_000016.9:g.78148963C>TClinGen:CA8183154C3463992 308350 Epileptic encephalopathy, early infantile, 1;
NM_016373.4(WWOX):c.321C>G (p.Tyr107Ter)51741WWOXPathogenic373306276RCV001384684; NMONDO:MONDO:0013687,MedGen:C3280452,OMIM:614322, Orphanet:284282; MONDO:MONDO:0010632,MedGen:C3463992,OMIM:30835016781489637814896378148963-
NM_016373.4(WWOX):c.322G>A (p.Asp108Asn)51741WWOXUncertain significance747575799RCV000498814|RCV001865564|RCV002527142; NMedGen:C3661900|MONDO:MONDO:0010632,MedGen:C3463992,OMIM:308350; MONDO:MONDO:0013687,MedGen:C3280452,OMIM:614322, Orphanet:284282|MeSH:D030342,MedGen:C0950123167814896478148964NC_000016.9:g.78148964G>AClinGen:CA8183156
NM_016373.4(WWOX):c.324C>T (p.Asp108=)51741WWOXLikely benign377442022RCV000534719|RCV001721394; NMONDO:MONDO:0010632,MedGen:C3463992,OMIM:308350; MONDO:MONDO:0013687,MedGen:C3280452,OMIM:614322, Orphanet:284282|MedGen:C366190016781489667814896616:g.78148966C>TClinGen:CA8183158C3463992 308350 Epileptic encephalopathy, early infantile, 1;
NM_016373.4(WWOX):c.324C>A (p.Asp108Glu)51741WWOXUncertain significance377442022RCV001984657; NMONDO:MONDO:0013687,MedGen:C3280452,OMIM:614322, Orphanet:284282; MONDO:MONDO:0010632,MedGen:C3463992,OMIM:30835016781489667814896678148966-
NM_016373.4(WWOX):c.325G>A (p.Gly109Ser)51741WWOXUncertain significance770001837RCV001330729|RCV001859279; NMONDO:MONDO:0014533,MedGen:C4015519,OMIM:616211, Orphanet:442835|MONDO:MONDO:0013687,MedGen:C3280452,OMIM:614322, Orphanet:284282; MONDO:MONDO:0010632,MedGen:C3463992,OMIM:30835016781489677814896778148967-
NM_016373.4(WWOX):c.332C>G (p.Thr111Ser)51741WWOXConflicting interpretations of pathogenicity114755364RCV000544935|RCV001291668|RCV001697771; NMONDO:MONDO:0013687,MedGen:C3280452,OMIM:614322, Orphanet:284282; MONDO:MONDO:0010632,MedGen:C3463992,OMIM:308350|MONDO:MONDO:0014533,MedGen:C4015519,OMIM:616211, Orphanet:442835|MedGen:C366190016781489747814897416:g.78148974C>GClinGen:CA8183162C3463992 308350 Epileptic encephalopathy, early infantile, 1;
NM_016373.4(WWOX):c.332C>T (p.Thr111Ile)51741WWOXUncertain significance114755364RCV001313355; NMONDO:MONDO:0010632,MedGen:C3463992,OMIM:308350; MONDO:MONDO:0013687,MedGen:C3280452,OMIM:614322, Orphanet:28428216781489747814897478148974-
NM_016373.4(WWOX):c.333del (p.Thr112fs)51741WWOXPathogenic2151674791RCV002007496; NMONDO:MONDO:0010632,MedGen:C3463992,OMIM:308350; MONDO:MONDO:0013687,MedGen:C3280452,OMIM:614322, Orphanet:28428216781489747814897478148973-
NM_016373.4(WWOX):c.340A>G (p.Met114Val)51741WWOXUncertain significance1402250109RCV000802659; NMONDO:MONDO:0013687,MedGen:C3280452,OMIM:614322, Orphanet:284282; MONDO:MONDO:0010632,MedGen:C3463992,OMIM:30835016781489827814898216:g.78148982A>G-
NM_016373.4(WWOX):c.341T>C (p.Met114Thr)51741WWOXUncertain significance761906386RCV000658343|RCV000696611|RCV000764077; NMedGen:CN517202|MONDO:MONDO:0010632,MedGen:C3463992,OMIM:308350; MONDO:MONDO:0013687,MedGen:C3280452,OMIM:614322, Orphanet:284282|MONDO:MONDO:0014533,MedGen:C4015519,OMIM:616211, Orphanet:442835; MONDO:MONDO:0007576,MedGen:C0546837,OMIM:133239, Orphanet:999716781489837814898316:g.78148983T>C-C3463992 308350 Epileptic encephalopathy, early infantile, 1;
NM_016373.4(WWOX):c.349C>A (p.Leu117Ile)51741WWOXUncertain significance1397160477RCV000823840; NMONDO:MONDO:0013687,MedGen:C3280452,OMIM:614322, Orphanet:284282; MONDO:MONDO:0010632,MedGen:C3463992,OMIM:30835016781489917814899116:g.78148991C>A-
NM_016373.4(WWOX):c.351C>G (p.Leu117=)51741WWOXBenign34944716RCV000420306|RCV000714208|RCV001082190|RCV002243914|RCV002243915; NMedGen:CN169374|MedGen:C3661900|MONDO:MONDO:0010632,MedGen:C3463992,OMIM:308350; MONDO:MONDO:0013687,MedGen:C3280452,OMIM:614322, Orphanet:284282|MONDO:MONDO:0013687,MedGen:C3280452,OMIM:614322, Orphanet:284282|MONDO:MONDO:0014533,MedGen:C4015519,OMIM:6162167814899378148993NC_000016.9:g.78148993C>GClinGen:CA8183167C3463992 308350 Epileptic encephalopathy, early infantile, 1;
NM_016373.4(WWOX):c.353A>G (p.Gln118Arg)51741WWOXUncertain significance752982374RCV001866629; NMONDO:MONDO:0013687,MedGen:C3280452,OMIM:614322, Orphanet:284282; MONDO:MONDO:0010632,MedGen:C3463992,OMIM:30835016781489957814899578148995-
NM_016373.4(WWOX):c.358C>T (p.Arg120Trp)51741WWOXBenign/Likely benign141361080RCV000203040|RCV000433686|RCV001085443|RCV002243884|RCV002243885; NMedGen:CN169374|MedGen:C3661900|MONDO:MONDO:0010632,MedGen:C3463992,OMIM:308350; MONDO:MONDO:0013687,MedGen:C3280452,OMIM:614322, Orphanet:284282|MONDO:MONDO:0013687,MedGen:C3280452,OMIM:614322, Orphanet:284282|MONDO:MONDO:0014533,MedGen:C4015519,OMIM:616216781490007814900016:g.78149000C>TClinGen:CA249245,UniProtKB:Q9NZC7#VAR_023918C3463992 308350 Epileptic encephalopathy, early infantile, 1;
NM_016373.4(WWOX):c.359G>A (p.Arg120Gln)51741WWOXUncertain significance1355355411RCV002009791; NMONDO:MONDO:0013687,MedGen:C3280452,OMIM:614322, Orphanet:284282; MONDO:MONDO:0010632,MedGen:C3463992,OMIM:30835016781490017814900178149001-
NM_016373.4(WWOX):c.362A>G (p.Asp121Gly)51741WWOXUncertain significance576113059RCV000687332; NMONDO:MONDO:0013687,MedGen:C3280452,OMIM:614322, Orphanet:284282; MONDO:MONDO:0010632,MedGen:C3463992,OMIM:30835016781490047814900416:g.78149004A>G-C3463992 308350 Epileptic encephalopathy, early infantile, 1;
NM_016373.4(WWOX):c.368C>T (p.Thr123Ile)51741WWOXUncertain significance2151674876RCV001898153; NMONDO:MONDO:0010632,MedGen:C3463992,OMIM:308350; MONDO:MONDO:0013687,MedGen:C3280452,OMIM:614322, Orphanet:28428216781490107814901078149010-
NM_016373.4(WWOX):c.372C>A (p.Gly124=)51741WWOXLikely benign1427515892RCV000942188; NMONDO:MONDO:0013687,MedGen:C3280452,OMIM:614322, Orphanet:284282; MONDO:MONDO:0010632,MedGen:C3463992,OMIM:30835016781490147814901416:g.78149014C>A-
NM_016373.4(WWOX):c.376G>C (p.Val126Leu)51741WWOXUncertain significance2151674893RCV001890730; NMONDO:MONDO:0010632,MedGen:C3463992,OMIM:308350; MONDO:MONDO:0013687,MedGen:C3280452,OMIM:614322, Orphanet:28428216781490187814901878149018-
NM_016373.4(WWOX):c.379G>A (p.Val127Ile)51741WWOXUncertain significance1183597678RCV001373399; NMONDO:MONDO:0010632,MedGen:C3463992,OMIM:308350; MONDO:MONDO:0013687,MedGen:C3280452,OMIM:614322, Orphanet:28428216781490217814902178149021-
NM_016373.4(WWOX):c.385G>C (p.Val129Leu)51741WWOXUncertain significance781732002RCV000559593; NMONDO:MONDO:0013687,MedGen:C3280452,OMIM:614322, Orphanet:284282; MONDO:MONDO:0010632,MedGen:C3463992,OMIM:308350167814902778149027NC_000016.9:g.78149027G>CClinGen:CA396842594C3463992 308350 Epileptic encephalopathy, early infantile, 1;
NM_016373.4(WWOX):c.389C>G (p.Thr130Ser)51741WWOXUncertain significance-1RCV002838144; NMONDO:MONDO:0013687,MedGen:C3280452,OMIM:614322, Orphanet:284282; MONDO:MONDO:0010632,MedGen:C3463992,OMIM:308350167814903178149031NC_000016.9:g.78149031C>G-
NM_016373.4(WWOX):c.391G>A (p.Gly131Arg)51741WWOXUncertain significance2151674915RCV001920092; NMONDO:MONDO:0010632,MedGen:C3463992,OMIM:308350; MONDO:MONDO:0013687,MedGen:C3280452,OMIM:614322, Orphanet:28428216781490337814903378149033-
NM_016373.4(WWOX):c.397A>T (p.Asn133Tyr)51741WWOXUncertain significance-1RCV002828536; NMONDO:MONDO:0013687,MedGen:C3280452,OMIM:614322, Orphanet:284282; MONDO:MONDO:0010632,MedGen:C3463992,OMIM:308350167814903978149039NC_000016.9:g.78149039A>T-
NM_016373.4(WWOX):c.406A>G (p.Ile136Val)51741WWOXConflicting interpretations of pathogenicity193027041RCV000537303|RCV001330929|RCV001507346; NMONDO:MONDO:0013687,MedGen:C3280452,OMIM:614322, Orphanet:284282; MONDO:MONDO:0010632,MedGen:C3463992,OMIM:308350|MONDO:MONDO:0014533,MedGen:C4015519,OMIM:616211, Orphanet:442835|MedGen:C3661900167814904878149048NC_000016.9:g.78149048A>GClinGen:CA8183177C3463992 308350 Epileptic encephalopathy, early infantile, 1;
NM_016373.4(WWOX):c.408A>G (p.Ile136Met)51741WWOXUncertain significance-1RCV003057380; NMONDO:MONDO:0013687,MedGen:C3280452,OMIM:614322, Orphanet:284282; MONDO:MONDO:0010632,MedGen:C3463992,OMIM:308350167814905078149050NC_000016.9:g.78149050A>G-
NM_016373.4(WWOX):c.409+1G>C51741WWOXPathogenic/Likely pathogenic1060502727RCV000458905|RCV001796062; NMONDO:MONDO:0013687,MedGen:C3280452,OMIM:614322, Orphanet:284282; MONDO:MONDO:0010632,MedGen:C3463992,OMIM:308350|MONDO:MONDO:0014533,MedGen:C4015519,OMIM:616211, Orphanet:442835167814905278149052NC_000016.9:g.78149052G>CClinGen:CA16614998C3463992 308350 Epileptic encephalopathy, early infantile, 1;
NM_016373.4(WWOX):c.409+4G>A51741WWOXUncertain significance2032715333RCV001052587; NMONDO:MONDO:0010632,MedGen:C3463992,OMIM:308350; MONDO:MONDO:0013687,MedGen:C3280452,OMIM:614322, Orphanet:28428216781490557814905516:g.78149055G>A-
NM_016373.4(WWOX):c.409+5G>A51741WWOXUncertain significance1305123836RCV001935993; NMONDO:MONDO:0013687,MedGen:C3280452,OMIM:614322, Orphanet:284282; MONDO:MONDO:0010632,MedGen:C3463992,OMIM:30835016781490567814905678149056-
NM_016373.4(WWOX):c.409+6C>G51741WWOXUncertain significance780224603RCV001910829; NMONDO:MONDO:0010632,MedGen:C3463992,OMIM:308350; MONDO:MONDO:0013687,MedGen:C3280452,OMIM:614322, Orphanet:28428216781490577814905778149057-
NM_016373.4(WWOX):c.409+6C>T51741WWOXUncertain significance-1RCV002720824; NMONDO:MONDO:0013687,MedGen:C3280452,OMIM:614322, Orphanet:284282; MONDO:MONDO:0010632,MedGen:C3463992,OMIM:308350167814905778149057NC_000016.9:g.78149057C>T-
NM_016373.4(WWOX):c.409+10T>C51741WWOXLikely benign2151674977RCV001496108; NMONDO:MONDO:0010632,MedGen:C3463992,OMIM:308350; MONDO:MONDO:0013687,MedGen:C3280452,OMIM:614322, Orphanet:28428216781490617814906178149061-
NM_016373.4(WWOX):c.409+16A>C51741WWOXBenign12934985RCV000243843|RCV001510046|RCV002244639|RCV002244638; NMedGen:CN169374|MONDO:MONDO:0010632,MedGen:C3463992,OMIM:308350; MONDO:MONDO:0013687,MedGen:C3280452,OMIM:614322, Orphanet:284282|MONDO:MONDO:0014533,MedGen:C4015519,OMIM:616211, Orphanet:442835|MONDO:MONDO:0013687,MedGen:C3280452,OMIM:614322, Orphanet:284216781490677814906716:g.78149067A>CClinGen:CA8183181CN169374 not specified;
NM_016373.4(WWOX):c.409+16A>T51741WWOXLikely benign12934985RCV000420187|RCV002065076; NMedGen:CN169374|MONDO:MONDO:0013687,MedGen:C3280452,OMIM:614322, Orphanet:284282; MONDO:MONDO:0010632,MedGen:C3463992,OMIM:30835016781490677814906716:g.78149067A>TClinGen:CA8183182CN169374 not specified;
NM_016373.4(WWOX):c.409+16_409+17delinsCA51741WWOXLikely benign2151674999RCV002073459; NMONDO:MONDO:0010632,MedGen:C3463992,OMIM:308350; MONDO:MONDO:0013687,MedGen:C3280452,OMIM:614322, Orphanet:28428216781490677814906878149067-
NM_016373.4(WWOX):c.409+16A>G51741WWOXLikely benign12934985RCV002116349; NMONDO:MONDO:0010632,MedGen:C3463992,OMIM:308350; MONDO:MONDO:0013687,MedGen:C3280452,OMIM:614322, Orphanet:28428216781490677814906778149067-
NM_016373.4(WWOX):c.409+17G>T51741WWOXLikely benign771445250RCV002174545; NMONDO:MONDO:0013687,MedGen:C3280452,OMIM:614322, Orphanet:284282; MONDO:MONDO:0010632,MedGen:C3463992,OMIM:30835016781490687814906878149068-
NC_000016.10:g.(?_78164163)_(78164309_?)del51741WWOXPathogenic-1RCV000708352; NMONDO:MONDO:0010632,MedGen:C3463992,OMIM:308350; MONDO:MONDO:0013687,MedGen:C3280452,OMIM:614322, Orphanet:284282167819806078198206-C3463992 308350 Epileptic encephalopathy, early infantile, 1;
NM_016373.4(WWOX):c.410-19A>G51741WWOXLikely benign201778955RCV002153379; NMONDO:MONDO:0010632,MedGen:C3463992,OMIM:308350; MONDO:MONDO:0013687,MedGen:C3280452,OMIM:614322, Orphanet:28428216781980617819806178198061-
NM_016373.4(WWOX):c.410-14C>T51741WWOXLikely benign-1RCV002881164; NMONDO:MONDO:0013687,MedGen:C3280452,OMIM:614322, Orphanet:284282; MONDO:MONDO:0010632,MedGen:C3463992,OMIM:308350167819806678198066NC_000016.9:g.78198066C>T-
NM_016373.4(WWOX):c.410-6C>T51741WWOXLikely benign1488901499RCV000547497; NMONDO:MONDO:0013687,MedGen:C3280452,OMIM:614322, Orphanet:284282; MONDO:MONDO:0010632,MedGen:C3463992,OMIM:308350167819807478198074NC_000016.9:g.78198074C>TClinGen:CA623617844C3463992 308350 Epileptic encephalopathy, early infantile, 1;
NM_016373.4(WWOX):c.410-6C>G51741WWOXUncertain significance1488901499RCV001983110; NMONDO:MONDO:0013687,MedGen:C3280452,OMIM:614322, Orphanet:284282; MONDO:MONDO:0010632,MedGen:C3463992,OMIM:30835016781980747819807478198074-
NM_016373.4(WWOX):c.410-4A>T51741WWOXBenign183410581RCV001515616; NMONDO:MONDO:0010632,MedGen:C3463992,OMIM:308350; MONDO:MONDO:0013687,MedGen:C3280452,OMIM:614322, Orphanet:284282167819807678198076NC_000016.9:g.78198076A>TClinGen:CA8183206C3463992 308350 Epileptic encephalopathy, early infantile, 1;
NM_016373.4(WWOX):c.410-4A>G51741WWOXLikely benign183410581RCV001867717; NMONDO:MONDO:0010632,MedGen:C3463992,OMIM:308350; MONDO:MONDO:0013687,MedGen:C3280452,OMIM:614322, Orphanet:28428216781980767819807678198076-
NM_016373.4(WWOX):c.410-3T>C51741WWOXConflicting interpretations of pathogenicity201178351RCV000433960|RCV000796343; NMedGen:CN169374|MONDO:MONDO:0013687,MedGen:C3280452,OMIM:614322, Orphanet:284282; MONDO:MONDO:0010632,MedGen:C3463992,OMIM:308350167819807778198077NC_000016.9:g.78198077T>CClinGen:CA8183207CN169374 not specified;
NM_016373.4(WWOX):c.410G>A (p.Gly137Glu)51741WWOXConflicting interpretations of pathogenicity761879076RCV000512753|RCV000525795|RCV002509417; NMedGen:C3661900|MONDO:MONDO:0010632,MedGen:C3463992,OMIM:308350; MONDO:MONDO:0013687,MedGen:C3280452,OMIM:614322, Orphanet:284282|MONDO:MONDO:0014533,MedGen:C4015519,OMIM:616211, Orphanet:44283516781980807819808016:g.78198080G>AClinGen:CA8183208C3463992 308350 Epileptic encephalopathy, early infantile, 1;
NM_016373.4(WWOX):c.410G>C (p.Gly137Ala)51741WWOXUncertain significance761879076RCV001229901; NMONDO:MONDO:0013687,MedGen:C3280452,OMIM:614322, Orphanet:284282; MONDO:MONDO:0010632,MedGen:C3463992,OMIM:30835016781980807819808016:g.78198080G>C-
NM_016373.4(WWOX):c.411G>T (p.Gly137=)51741WWOXLikely benign1172090882RCV002117028|RCV003426319; NMONDO:MONDO:0013687,MedGen:C3280452,OMIM:614322, Orphanet:284282; MONDO:MONDO:0010632,MedGen:C3463992,OMIM:308350|MedGen:C366190016781980817819808178198081-
NM_016373.4(WWOX):c.414C>T (p.Phe138=)51741WWOXLikely benign767693780RCV000442819|RCV001479925; NMedGen:CN169374|MONDO:MONDO:0013687,MedGen:C3280452,OMIM:614322, Orphanet:284282; MONDO:MONDO:0010632,MedGen:C3463992,OMIM:30835016781980847819808416:g.78198084C>TClinGen:CA8183209CN169374 not specified;
NM_016373.4(WWOX):c.415G>C (p.Glu139Gln)51741WWOXUncertain significance764089824RCV001302863; NMONDO:MONDO:0010632,MedGen:C3463992,OMIM:308350; MONDO:MONDO:0013687,MedGen:C3280452,OMIM:614322, Orphanet:28428216781980857819808578198085-
NM_016373.4(WWOX):c.419C>A (p.Thr140Asn)51741WWOXUncertain significance750464034RCV001313283; NMONDO:MONDO:0013687,MedGen:C3280452,OMIM:614322, Orphanet:284282; MONDO:MONDO:0010632,MedGen:C3463992,OMIM:30835016781980897819808978198089-
NM_016373.4(WWOX):c.420C>T (p.Thr140=)51741WWOXLikely benign374644172RCV001469186|RCV001547281; NMONDO:MONDO:0010632,MedGen:C3463992,OMIM:308350; MONDO:MONDO:0013687,MedGen:C3280452,OMIM:614322, Orphanet:284282|MedGen:C366190016781980907819809078198090-
NM_016373.4(WWOX):c.421G>A (p.Ala141Thr)51741WWOXConflicting interpretations of pathogenicity369907002RCV000493095|RCV001080385; NMedGen:C3661900|MONDO:MONDO:0010632,MedGen:C3463992,OMIM:308350; MONDO:MONDO:0013687,MedGen:C3280452,OMIM:614322, Orphanet:284282167819809178198091NC_000016.9:g.78198091G>AClinGen:CA8183213C3463992 308350 Epileptic encephalopathy, early infantile, 1;
NM_016373.4(WWOX):c.422C>T (p.Ala141Val)51741WWOXUncertain significance990349398RCV002024434; NMONDO:MONDO:0013687,MedGen:C3280452,OMIM:614322, Orphanet:284282; MONDO:MONDO:0010632,MedGen:C3463992,OMIM:30835016781980927819809278198092-
NM_016373.4(WWOX):c.423C>G (p.Ala141=)51741WWOXLikely benign-1RCV002592126; NMONDO:MONDO:0013687,MedGen:C3280452,OMIM:614322, Orphanet:284282; MONDO:MONDO:0010632,MedGen:C3463992,OMIM:308350167819809378198093-
NM_016373.4(WWOX):c.439C>T (p.His147Tyr)51741WWOXUncertain significance746480783RCV001171778|RCV001363796; NMedGen:C3661900|MONDO:MONDO:0013687,MedGen:C3280452,OMIM:614322, Orphanet:284282; MONDO:MONDO:0010632,MedGen:C3463992,OMIM:30835016781981097819810916:g.78198109C>T-
NM_016373.4(WWOX):c.440A>G (p.His147Arg)51741WWOXUncertain significance188859796RCV000472179|RCV003168819; NMONDO:MONDO:0010632,MedGen:C3463992,OMIM:308350; MONDO:MONDO:0013687,MedGen:C3280452,OMIM:614322, Orphanet:284282|MeSH:D030342,MedGen:C0950123167819811078198110NC_000016.9:g.78198110A>GClinGen:CA8183220C3463992 308350 Epileptic encephalopathy, early infantile, 1;
NM_016373.4(WWOX):c.440A>C (p.His147Pro)51741WWOXUncertain significance188859796RCV001894383; NMONDO:MONDO:0010632,MedGen:C3463992,OMIM:308350; MONDO:MONDO:0013687,MedGen:C3280452,OMIM:614322, Orphanet:28428216781981107819811078198110-
NM_016373.4(WWOX):c.443G>C (p.Gly148Ala)51741WWOXUncertain significance372660669RCV000685513|RCV003343988; NMONDO:MONDO:0013687,MedGen:C3280452,OMIM:614322, Orphanet:284282; MONDO:MONDO:0010632,MedGen:C3463992,OMIM:308350|MeSH:D030342,MedGen:C0950123167819811378198113NC_000016.9:g.78198113G>C-C3463992 308350 Epileptic encephalopathy, early infantile, 1;
NM_016373.4(WWOX):c.445G>A (p.Ala149Thr)51741WWOXUncertain significance200820063RCV000701811|RCV003165875; NMONDO:MONDO:0010632,MedGen:C3463992,OMIM:308350; MONDO:MONDO:0013687,MedGen:C3280452,OMIM:614322, Orphanet:284282|MeSH:D030342,MedGen:C0950123167819811578198115NC_000016.9:g.78198115G>A-C3463992 308350 Epileptic encephalopathy, early infantile, 1;
NM_016373.4(WWOX):c.446C>G (p.Ala149Gly)51741WWOXUncertain significance1024835941RCV001222657; NMONDO:MONDO:0010632,MedGen:C3463992,OMIM:308350; MONDO:MONDO:0013687,MedGen:C3280452,OMIM:614322, Orphanet:28428216781981167819811616:g.78198116C>G-
NM_016373.4(WWOX):c.446C>T (p.Ala149Val)51741WWOXUncertain significance1024835941RCV001321900; NMONDO:MONDO:0013687,MedGen:C3280452,OMIM:614322, Orphanet:284282; MONDO:MONDO:0010632,MedGen:C3463992,OMIM:30835016781981167819811678198116-
NM_016373.4(WWOX):c.449A>T (p.His150Leu)51741WWOXUncertain significance-1RCV002962718; NMONDO:MONDO:0013687,MedGen:C3280452,OMIM:614322, Orphanet:284282; MONDO:MONDO:0010632,MedGen:C3463992,OMIM:308350167819811978198119NC_000016.9:g.78198119A>T-
NM_016373.4(WWOX):c.453G>A (p.Val151=)51741WWOXLikely benign375649496RCV001467509; NMONDO:MONDO:0010632,MedGen:C3463992,OMIM:308350; MONDO:MONDO:0013687,MedGen:C3280452,OMIM:614322, Orphanet:28428216781981237819812378198123-
NM_016373.4(WWOX):c.454A>G (p.Ile152Val)51741WWOXUncertain significance961514796RCV001341943|RCV001762571; NMONDO:MONDO:0013687,MedGen:C3280452,OMIM:614322, Orphanet:284282; MONDO:MONDO:0010632,MedGen:C3463992,OMIM:308350|MedGen:CN51720216781981247819812478198124-
NM_016373.4(WWOX):c.462C>T (p.Ala154=)51741WWOXLikely benign1167825014RCV001419672; NMONDO:MONDO:0013687,MedGen:C3280452,OMIM:614322, Orphanet:284282; MONDO:MONDO:0010632,MedGen:C3463992,OMIM:30835016781981327819813278198132-
NM_016373.4(WWOX):c.462C>G (p.Ala154=)51741WWOXLikely benign1167825014RCV002203996; NMONDO:MONDO:0010632,MedGen:C3463992,OMIM:308350; MONDO:MONDO:0013687,MedGen:C3280452,OMIM:614322, Orphanet:28428216781981327819813278198132-
NM_016373.4(WWOX):c.468G>T (p.Arg156Ser)51741WWOXBenign/Likely benign140817689RCV000480602|RCV001081708|RCV002244944|RCV002244945; NMedGen:C3661900|MONDO:MONDO:0010632,MedGen:C3463992,OMIM:308350; MONDO:MONDO:0013687,MedGen:C3280452,OMIM:614322, Orphanet:284282|MONDO:MONDO:0013687,MedGen:C3280452,OMIM:614322, Orphanet:284282|MONDO:MONDO:0014533,MedGen:C4015519,OMIM:616211, Orphanet:4428167819813878198138NC_000016.9:g.78198138G>TClinGen:CA8183226C3463992 308350 Epileptic encephalopathy, early infantile, 1;
NM_016373.4(WWOX):c.480G>A (p.Arg160=)51741WWOXLikely benign919851150RCV000869977; NMONDO:MONDO:0013687,MedGen:C3280452,OMIM:614322, Orphanet:284282; MONDO:MONDO:0010632,MedGen:C3463992,OMIM:30835016781981507819815016:g.78198150G>A-
NM_016373.4(WWOX):c.481G>A (p.Ala161Thr)51741WWOXUncertain significance779724017RCV000703157; NMONDO:MONDO:0010632,MedGen:C3463992,OMIM:308350; MONDO:MONDO:0013687,MedGen:C3280452,OMIM:614322, Orphanet:28428216781981517819815116:g.78198151G>A-C3463992 308350 Epileptic encephalopathy, early infantile, 1;
NM_016373.4(WWOX):c.482C>T (p.Ala161Val)51741WWOXUncertain significance369055872RCV000696468|RCV001556445; NMONDO:MONDO:0013687,MedGen:C3280452,OMIM:614322, Orphanet:284282; MONDO:MONDO:0010632,MedGen:C3463992,OMIM:308350|MedGen:C3661900167819815278198152NC_000016.9:g.78198152C>T-C3463992 308350 Epileptic encephalopathy, early infantile, 1;
NM_016373.4(WWOX):c.483G>A (p.Ala161=)51741WWOXLikely benign143067173RCV001412151; NMONDO:MONDO:0013687,MedGen:C3280452,OMIM:614322, Orphanet:284282; MONDO:MONDO:0010632,MedGen:C3463992,OMIM:30835016781981537819815378198153-
NM_016373.4(WWOX):c.490G>A (p.Ala164Thr)51741WWOXUncertain significance2034896161RCV001218338; NMONDO:MONDO:0010632,MedGen:C3463992,OMIM:308350; MONDO:MONDO:0013687,MedGen:C3280452,OMIM:614322, Orphanet:28428216781981607819816016:g.78198160G>A-
NM_016373.4(WWOX):c.499C>T (p.Arg167Cys)51741WWOXUncertain significance201228765RCV000498364|RCV000699068|RCV001809451|RCV002524085; NMedGen:CN517202|MONDO:MONDO:0010632,MedGen:C3463992,OMIM:308350; MONDO:MONDO:0013687,MedGen:C3280452,OMIM:614322, Orphanet:284282|MONDO:MONDO:0014533,MedGen:C4015519,OMIM:616211, Orphanet:442835|MeSH:D030342,MedGen:C095012316781981697819816916:g.78198169C>TClinGen:CA8183230C3463992 308350 Epileptic encephalopathy, early infantile, 1;
NM_016373.4(WWOX):c.500G>A (p.Arg167His)51741WWOXUncertain significance377356629RCV001892604|RCV002471178; NMONDO:MONDO:0010632,MedGen:C3463992,OMIM:308350; MONDO:MONDO:0013687,MedGen:C3280452,OMIM:614322, Orphanet:284282|MONDO:MONDO:0014533,MedGen:C4015519,OMIM:616211, Orphanet:44283516781981707819817078198170-
NM_016373.4(WWOX):c.508G>A (p.Glu170Lys)51741WWOXUncertain significance758121265RCV001227931; NMONDO:MONDO:0013687,MedGen:C3280452,OMIM:614322, Orphanet:284282; MONDO:MONDO:0010632,MedGen:C3463992,OMIM:30835016781981787819817816:g.78198178G>A-
NM_016373.4(WWOX):c.513A>G (p.Glu171=)51741WWOXUncertain significance1060502728RCV000468545; NMONDO:MONDO:0013687,MedGen:C3280452,OMIM:614322, Orphanet:284282; MONDO:MONDO:0010632,MedGen:C3463992,OMIM:308350167819818378198183NC_000016.9:g.78198183A>GClinGen:CA16615427C3463992 308350 Epileptic encephalopathy, early infantile, 1;
NM_016373.4(WWOX):c.516+3A>G51741WWOXUncertain significance200058019RCV001040721; NMONDO:MONDO:0010632,MedGen:C3463992,OMIM:308350; MONDO:MONDO:0013687,MedGen:C3280452,OMIM:614322, Orphanet:28428216781981897819818916:g.78198189A>G-
NM_016373.4(WWOX):c.516+6T>C51741WWOXBenign2303191RCV000248806|RCV000714209|RCV001510047|RCV002244641|RCV002244640; NMedGen:CN169374|MedGen:C3661900|MONDO:MONDO:0010632,MedGen:C3463992,OMIM:308350; MONDO:MONDO:0013687,MedGen:C3280452,OMIM:614322, Orphanet:284282|MONDO:MONDO:0014533,MedGen:C4015519,OMIM:616211, Orphanet:442835|MONDO:MONDO:0013687,MedGen:C3280452,OMIM:6143167819819278198192NC_000016.9:g.78198192T>CClinGen:CA8183239CN169374 not specified;
NM_016373.4(WWOX):c.516+6_516+7inv51741WWOXUncertain significance-1RCV001324934; NMONDO:MONDO:0013687,MedGen:C3280452,OMIM:614322, Orphanet:284282; MONDO:MONDO:0010632,MedGen:C3463992,OMIM:30835016781981927819819378198192-
NM_016373.4(WWOX):c.516+6_516+7delinsCT51741WWOXLikely benign2151735603RCV001500923; NMONDO:MONDO:0010632,MedGen:C3463992,OMIM:308350; MONDO:MONDO:0013687,MedGen:C3280452,OMIM:614322, Orphanet:28428216781981927819819378198192-
NM_016373.4(WWOX):c.516+14TGT[2]51741WWOXLikely benign757933432RCV002078282; NMONDO:MONDO:0010632,MedGen:C3463992,OMIM:308350; MONDO:MONDO:0013687,MedGen:C3280452,OMIM:614322, Orphanet:28428216781982007819820278198199-
NM_016373.4(WWOX):c.516+14T>A51741WWOXLikely benign779863445RCV002075097; NMONDO:MONDO:0010632,MedGen:C3463992,OMIM:308350; MONDO:MONDO:0013687,MedGen:C3280452,OMIM:614322, Orphanet:28428216781982007819820078198200-
NM_016373.4(WWOX):c.516+19T>A51741WWOXLikely benign2034899735RCV002073737; NMONDO:MONDO:0010632,MedGen:C3463992,OMIM:308350; MONDO:MONDO:0013687,MedGen:C3280452,OMIM:614322, Orphanet:28428216781982057819820578198205-
NC_000016.9:g.(?_78312480)_(78466669_?)dup51741WWOXUncertain significance-1RCV000707796; NMONDO:MONDO:0013687,MedGen:C3280452,OMIM:614322, Orphanet:284282; MONDO:MONDO:0010632,MedGen:C3463992,OMIM:308350167831248078466669-C3463992 308350 Epileptic encephalopathy, early infantile, 1;
NC_000016.9:g.(?_78312480)_(78658393_?)dup51741WWOXUncertain significance-1RCV000819890; NMONDO:MONDO:0010632,MedGen:C3463992,OMIM:308350; MONDO:MONDO:0013687,MedGen:C3280452,OMIM:614322, Orphanet:284282167831248078658393-
NC_000016.10:g.(?_78278583)_(78386968_?)del51741WWOXPathogenic-1RCV001033621; NMONDO:MONDO:0010632,MedGen:C3463992,OMIM:308350; MONDO:MONDO:0013687,MedGen:C3280452,OMIM:614322, Orphanet:284282167831248078420865-1-
NC_000016.10:g.(?_78278583)_(78432772_?)del51741WWOXLikely pathogenic-1RCV001032593; NMONDO:MONDO:0010632,MedGen:C3463992,OMIM:308350; MONDO:MONDO:0013687,MedGen:C3280452,OMIM:614322, Orphanet:284282167831248078466669-1-
NM_016373.4(WWOX):c.517-108230A>G51741WWOXBenign/Likely benign77067228RCV000615318|RCV001510048|RCV001637099; NMONDO:MONDO:0007576,MedGen:C0546837,OMIM:133239, Orphanet:99977|MONDO:MONDO:0010632,MedGen:C3463992,OMIM:308350; MONDO:MONDO:0013687,MedGen:C3280452,OMIM:614322, Orphanet:284282|MedGen:C3661900167831252778312527NC_000016.9:g.78312527A>GClinGen:CA8183281C0546837 133239 Malignant tumor of esophagus;
NC_000016.9:g.(?_78352643)_(78420837_?)dup51741WWOXPathogenic-1RCV000550477; NMONDO:MONDO:0010632,MedGen:C3463992,OMIM:308350; MONDO:MONDO:0013687,MedGen:C3280452,OMIM:614322, Orphanet:284282167835264378420837-1-
NC_000016.10:g.(?_78386840)_(78386968_?)del51741WWOXPathogenic-1RCV000707918; NMONDO:MONDO:0013687,MedGen:C3280452,OMIM:614322, Orphanet:284282; MONDO:MONDO:0010632,MedGen:C3463992,OMIM:308350167842073778420865-C3463992 308350 Epileptic encephalopathy, early infantile, 1;
NC_000016.10:g.(?_78386840)_(78432772_?)del51741WWOXPathogenic-1RCV000708455; NMONDO:MONDO:0013687,MedGen:C3280452,OMIM:614322, Orphanet:284282; MONDO:MONDO:0010632,MedGen:C3463992,OMIM:308350167842073778466669-C3463992 308350 Epileptic encephalopathy, early infantile, 1;
NC_000016.10:g.(?_78386840)_(78432772_?)dup51741WWOXUncertain significance-1RCV001031873; NMONDO:MONDO:0013687,MedGen:C3280452,OMIM:614322, Orphanet:284282; MONDO:MONDO:0010632,MedGen:C3463992,OMIM:308350167842073778466669-1-
NC_000016.10:g.(?_78386840)_(78624496_?)dup51741WWOXUncertain significance-1RCV001033412; NMONDO:MONDO:0010632,MedGen:C3463992,OMIM:308350; MONDO:MONDO:0013687,MedGen:C3280452,OMIM:614322, Orphanet:284282167842073778658393-1-
NM_016373.4(WWOX):c.517-20T>C51741WWOXLikely benign2151934070RCV002079885; NMONDO:MONDO:0010632,MedGen:C3463992,OMIM:308350; MONDO:MONDO:0013687,MedGen:C3280452,OMIM:614322, Orphanet:28428216784207377842073778420737-
NC_000016.9:g.(?_78420737)_(78458972_?)del51741WWOXPathogenic-1RCV003119742; NMONDO:MONDO:0010632,MedGen:C3463992,OMIM:308350; MONDO:MONDO:0013687,MedGen:C3280452,OMIM:614322, Orphanet:284282167842073778458972-
NM_016373.4(WWOX):c.517-19T>C51741WWOXLikely benign1057518552RCV000414481|RCV002521436; NMedGen:CN169374|MONDO:MONDO:0010632,MedGen:C3463992,OMIM:308350; MONDO:MONDO:0013687,MedGen:C3280452,OMIM:614322, Orphanet:28428216784207387842073816:g.78420738T>CClinGen:CA16043091CN169374 not specified;
NM_016373.4(WWOX):c.517-17A>G51741WWOXBenign/Likely benign79423401RCV000429744|RCV002062776|RCV002244907|RCV002244908; NMedGen:CN169374|MONDO:MONDO:0013687,MedGen:C3280452,OMIM:614322, Orphanet:284282; MONDO:MONDO:0010632,MedGen:C3463992,OMIM:308350|MONDO:MONDO:0013687,MedGen:C3280452,OMIM:614322, Orphanet:284282|MONDO:MONDO:0014533,MedGen:C4015519,OMIM:616211, Orphanet:442816784207407842074016:g.78420740A>GClinGen:CA8183312CN169374 not specified;
NM_016373.4(WWOX):c.517-12C>T51741WWOXLikely benign373188700RCV001722662|RCV002063211; NMedGen:C3661900|MONDO:MONDO:0013687,MedGen:C3280452,OMIM:614322, Orphanet:284282; MONDO:MONDO:0010632,MedGen:C3463992,OMIM:30835016784207457842074516:g.78420745C>TClinGen:CA8183313CN169374 not specified;
NM_016373.4(WWOX):c.517-12C>A51741WWOXLikely benign373188700RCV000827511|RCV002067458; NMedGen:CN517202|MONDO:MONDO:0013687,MedGen:C3280452,OMIM:614322, Orphanet:284282; MONDO:MONDO:0010632,MedGen:C3463992,OMIM:30835016784207457842074516:g.78420745C>A-
NM_016373.4(WWOX):c.517-11T>C51741WWOXLikely benign2151934076RCV002196886; NMONDO:MONDO:0010632,MedGen:C3463992,OMIM:308350; MONDO:MONDO:0013687,MedGen:C3280452,OMIM:614322, Orphanet:28428216784207467842074678420746-
NM_016373.4(WWOX):c.517-10C>G51741WWOXLikely benign199820033RCV000438940|RCV000535945; NMedGen:CN169374|MONDO:MONDO:0013687,MedGen:C3280452,OMIM:614322, Orphanet:284282; MONDO:MONDO:0010632,MedGen:C3463992,OMIM:30835016784207477842074716:g.78420747C>GClinGen:CA8183314C3463992 308350 Epileptic encephalopathy, early infantile, 1;
NC_000016.9:g.(?_78420747)_(78458962_?)del51741WWOXPathogenic-1RCV001390384; NMONDO:MONDO:0010632,MedGen:C3463992,OMIM:308350; MONDO:MONDO:0013687,MedGen:C3280452,OMIM:614322, Orphanet:284282167842074778458962-1-
NC_000016.9:g.(?_78420747)_(78466659_?)del51741WWOXPathogenic-1RCV001390385; NMONDO:MONDO:0010632,MedGen:C3463992,OMIM:308350; MONDO:MONDO:0013687,MedGen:C3280452,OMIM:614322, Orphanet:284282167842074778466659-1-
NM_016373.4(WWOX):c.517-9T>C51741WWOXLikely benign-1RCV003020827; NMONDO:MONDO:0013687,MedGen:C3280452,OMIM:614322, Orphanet:284282; MONDO:MONDO:0010632,MedGen:C3463992,OMIM:308350167842074878420748NC_000016.9:g.78420748T>C-
NM_016373.4(WWOX):c.517-8C>T51741WWOXLikely benign-1RCV002627759; NMONDO:MONDO:0013687,MedGen:C3280452,OMIM:614322, Orphanet:284282; MONDO:MONDO:0010632,MedGen:C3463992,OMIM:308350167842074978420749NC_000016.9:g.78420749C>T-
NM_016373.4(WWOX):c.517-1G>T51741WWOXPathogenic867163041RCV001958834; NMONDO:MONDO:0013687,MedGen:C3280452,OMIM:614322, Orphanet:284282; MONDO:MONDO:0010632,MedGen:C3463992,OMIM:30835016784207567842075678420756-
NM_016373.4(WWOX):c.518A>G (p.His173Arg)51741WWOXUncertain significance770595933RCV001889422; NMONDO:MONDO:0010632,MedGen:C3463992,OMIM:308350; MONDO:MONDO:0013687,MedGen:C3280452,OMIM:614322, Orphanet:28428216784207587842075878420758-
NM_016373.4(WWOX):c.520A>G (p.Lys174Glu)51741WWOXUncertain significance766451936RCV001340154; NMONDO:MONDO:0013687,MedGen:C3280452,OMIM:614322, Orphanet:284282; MONDO:MONDO:0010632,MedGen:C3463992,OMIM:30835016784207607842076078420760-
NM_016373.4(WWOX):c.525C>G (p.Ala175=)51741WWOXBenign-1RCV003046319; NMONDO:MONDO:0013687,MedGen:C3280452,OMIM:614322, Orphanet:284282; MONDO:MONDO:0010632,MedGen:C3463992,OMIM:308350167842076578420765-
NM_016373.4(WWOX):c.530T>C (p.Val177Ala)51741WWOXUncertain significance2151934103RCV001910324; NMONDO:MONDO:0013687,MedGen:C3280452,OMIM:614322, Orphanet:284282; MONDO:MONDO:0010632,MedGen:C3463992,OMIM:30835016784207707842077078420770-
NM_016373.4(WWOX):c.531A>G (p.Val177=)51741WWOXLikely benign1451196383RCV001405809; NMONDO:MONDO:0013687,MedGen:C3280452,OMIM:614322, Orphanet:284282; MONDO:MONDO:0010632,MedGen:C3463992,OMIM:30835016784207717842077178420771-
NM_016373.4(WWOX):c.533A>G (p.Glu178Gly)51741WWOXUncertain significance764588235RCV001898241; NMONDO:MONDO:0010632,MedGen:C3463992,OMIM:308350; MONDO:MONDO:0013687,MedGen:C3280452,OMIM:614322, Orphanet:28428216784207737842077378420773-
NM_016373.4(WWOX):c.535G>A (p.Ala179Thr)51741WWOXBenign11545029RCV000253370|RCV000714211|RCV000989640|RCV001510592|RCV002244642|RCV002244643|RCV002500910; NMedGen:CN169374|MedGen:C3661900|MONDO:MONDO:0010632,MedGen:C3463992,OMIM:308350|MONDO:MONDO:0010632,MedGen:C3463992,OMIM:308350; MONDO:MONDO:0013687,MedGen:C3280452,OMIM:614322, Orphanet:284282|MONDO:MONDO:0013687,MedGen:C3280452,OMIM:614322, Orphanet:284216784207757842077516:g.78420775G>AClinGen:CA8183321,UniProtKB:Q9NZC7#VAR_023919CN169374 not specified;
NM_016373.4(WWOX):c.535G>T (p.Ala179Ser)51741WWOXConflicting interpretations of pathogenicity11545029RCV000524996|RCV002483483|RCV001726237; NMONDO:MONDO:0013687,MedGen:C3280452,OMIM:614322, Orphanet:284282; MONDO:MONDO:0010632,MedGen:C3463992,OMIM:308350|MONDO:MONDO:0013687,MedGen:C3280452,OMIM:614322, Orphanet:284282; MONDO:MONDO:0014533,MedGen:C4015519,OMIM:616211, Orphanet:442835; MONDO:MONDO:0167842077578420775NC_000016.9:g.78420775G>TClinGen:CA8183322C3463992 308350 Epileptic encephalopathy, early infantile, 1;
NM_016373.4(WWOX):c.535G>C (p.Ala179Pro)51741WWOXUncertain significance11545029RCV002051448; NMONDO:MONDO:0013687,MedGen:C3280452,OMIM:614322, Orphanet:284282; MONDO:MONDO:0010632,MedGen:C3463992,OMIM:30835016784207757842077578420775-
NM_016373.4(WWOX):c.538A>G (p.Met180Val)51741WWOXConflicting interpretations of pathogenicity569297468RCV001091761|RCV001212923; NMedGen:C3661900|MONDO:MONDO:0010632,MedGen:C3463992,OMIM:308350; MONDO:MONDO:0013687,MedGen:C3280452,OMIM:614322, Orphanet:28428216784207787842077816:g.78420778A>G-
NM_016373.4(WWOX):c.542C>T (p.Thr181Ile)51741WWOXBenign756339242RCV001369076; NMONDO:MONDO:0010632,MedGen:C3463992,OMIM:308350; MONDO:MONDO:0013687,MedGen:C3280452,OMIM:614322, Orphanet:28428216784207827842078278420782-
NM_016373.4(WWOX):c.543C>G (p.Thr181=)51741WWOXLikely benign-1RCV002576570; NMONDO:MONDO:0013687,MedGen:C3280452,OMIM:614322, Orphanet:284282; MONDO:MONDO:0010632,MedGen:C3463992,OMIM:308350167842078378420783-
NM_016373.4(WWOX):c.544C>G (p.Leu182Val)51741WWOXBenign-1RCV003081870; NMONDO:MONDO:0013687,MedGen:C3280452,OMIM:614322, Orphanet:284282; MONDO:MONDO:0010632,MedGen:C3463992,OMIM:308350167842078478420784NC_000016.9:g.78420784C>G-
NM_016373.4(WWOX):c.545T>C (p.Leu182Pro)51741WWOXUncertain significance2082072058RCV001070350; NMONDO:MONDO:0010632,MedGen:C3463992,OMIM:308350; MONDO:MONDO:0013687,MedGen:C3280452,OMIM:614322, Orphanet:28428216784207857842078516:g.78420785T>C-
NM_016373.4(WWOX):c.547G>A (p.Asp183Asn)51741WWOXBenign74944733RCV000245360|RCV000462619|RCV002244644|RCV002244645; NMedGen:CN169374|MONDO:MONDO:0010632,MedGen:C3463992,OMIM:308350; MONDO:MONDO:0013687,MedGen:C3280452,OMIM:614322, Orphanet:284282|MONDO:MONDO:0013687,MedGen:C3280452,OMIM:614322, Orphanet:284282|MONDO:MONDO:0014533,MedGen:C4015519,OMIM:616211, Orphanet:4428167842078778420787NC_000016.9:g.78420787G>AClinGen:CA8183327C3463992 308350 Epileptic encephalopathy, early infantile, 1;
NM_016373.4(WWOX):c.550C>T (p.Leu184Phe)51741WWOXUncertain significance753965511RCV001049767; NMONDO:MONDO:0010632,MedGen:C3463992,OMIM:308350; MONDO:MONDO:0013687,MedGen:C3280452,OMIM:614322, Orphanet:28428216784207907842079016:g.78420790C>T-
NM_016373.4(WWOX):c.552dup (p.Ala185fs)51741WWOXPathogenic-1RCV003021516; NMONDO:MONDO:0013687,MedGen:C3280452,OMIM:614322, Orphanet:284282; MONDO:MONDO:0010632,MedGen:C3463992,OMIM:308350167842079178420792NC_000016.9:g.78420792dup-
NM_016373.4(WWOX):c.552C>T (p.Leu184=)51741WWOXLikely benign199715254RCV000539722|RCV001704419|RCV003151055; NMONDO:MONDO:0013687,MedGen:C3280452,OMIM:614322, Orphanet:284282; MONDO:MONDO:0010632,MedGen:C3463992,OMIM:308350|MedGen:C3661900|MedGen:CN16937416784207927842079216:g.78420792C>TClinGen:CA8183330C3463992 308350 Epileptic encephalopathy, early infantile, 1;
NM_016373.4(WWOX):c.552C>G (p.Leu184=)51741WWOXLikely benign199715254RCV000934055; NMONDO:MONDO:0010632,MedGen:C3463992,OMIM:308350; MONDO:MONDO:0013687,MedGen:C3280452,OMIM:614322, Orphanet:28428216784207927842079216:g.78420792C>G-
NM_016373.4(WWOX):c.553G>A (p.Ala185Thr)51741WWOXUncertain significance778951309RCV001902919; NMONDO:MONDO:0010632,MedGen:C3463992,OMIM:308350; MONDO:MONDO:0013687,MedGen:C3280452,OMIM:614322, Orphanet:28428216784207937842079378420793-
NM_016373.4(WWOX):c.554C>T (p.Ala185Val)51741WWOXUncertain significance-1RCV002725390; NMONDO:MONDO:0013687,MedGen:C3280452,OMIM:614322, Orphanet:284282; MONDO:MONDO:0010632,MedGen:C3463992,OMIM:308350167842079478420794NC_000016.9:g.78420794C>T-
NM_016373.4(WWOX):c.555T>C (p.Ala185=)51741WWOXLikely benign748722105RCV001474526; NMONDO:MONDO:0013687,MedGen:C3280452,OMIM:614322, Orphanet:284282; MONDO:MONDO:0010632,MedGen:C3463992,OMIM:30835016784207957842079578420795-
NM_016373.4(WWOX):c.555T>A (p.Ala185=)51741WWOXLikely benign748722105RCV001484137; NMONDO:MONDO:0010632,MedGen:C3463992,OMIM:308350; MONDO:MONDO:0013687,MedGen:C3280452,OMIM:614322, Orphanet:28428216784207957842079578420795-
NM_016373.4(WWOX):c.556C>T (p.Leu186=)51741WWOXLikely benign772539448RCV002064545; NMONDO:MONDO:0010632,MedGen:C3463992,OMIM:308350; MONDO:MONDO:0013687,MedGen:C3280452,OMIM:614322, Orphanet:28428216784207967842079616:g.78420796C>T-
NM_016373.4(WWOX):c.556C>G (p.Leu186Val)51741WWOXUncertain significance772539448RCV001229924; NMONDO:MONDO:0010632,MedGen:C3463992,OMIM:308350; MONDO:MONDO:0013687,MedGen:C3280452,OMIM:614322, Orphanet:28428216784207967842079616:g.78420796C>G-
NM_016373.4(WWOX):c.558G>A (p.Leu186=)51741WWOXLikely benign1464156122RCV001406586; NMONDO:MONDO:0013687,MedGen:C3280452,OMIM:614322, Orphanet:284282; MONDO:MONDO:0010632,MedGen:C3463992,OMIM:30835016784207987842079878420798-
NM_016373.4(WWOX):c.560T>A (p.Leu187His)51741WWOXUncertain significance2151934150RCV002022899; NMONDO:MONDO:0010632,MedGen:C3463992,OMIM:308350; MONDO:MONDO:0013687,MedGen:C3280452,OMIM:614322, Orphanet:28428216784208007842080078420800-
NM_016373.4(WWOX):c.562C>A (p.Arg188Ser)51741WWOXConflicting interpretations of pathogenicity199511589RCV000458450|RCV000764078|RCV001537501; NMONDO:MONDO:0013687,MedGen:C3280452,OMIM:614322, Orphanet:284282; MONDO:MONDO:0010632,MedGen:C3463992,OMIM:308350|MONDO:MONDO:0013687,MedGen:C3280452,OMIM:614322, Orphanet:284282; MONDO:MONDO:0007576,MedGen:C0546837,OMIM:133239, Orphanet:99977; MONDO:MONDO:00167842080278420802NC_000016.9:g.78420802C>AClinGen:CA8183335C3463992 308350 Epileptic encephalopathy, early infantile, 1;
NM_016373.4(WWOX):c.562C>T (p.Arg188Cys)51741WWOXUncertain significance199511589RCV000650200|RCV001542401|RCV003162978|RCV003441997; NMONDO:MONDO:0013687,MedGen:C3280452,OMIM:614322, Orphanet:284282; MONDO:MONDO:0010632,MedGen:C3463992,OMIM:308350|MONDO:MONDO:0014533,MedGen:C4015519,OMIM:616211, Orphanet:442835|MeSH:D030342,MedGen:C0950123|MedGen:C366190016784208027842080216:g.78420802C>TClinGen:CA8183334C3463992 308350 Epileptic encephalopathy, early infantile, 1;
NM_016373.4(WWOX):c.563G>A (p.Arg188His)51741WWOXUncertain significance771163284RCV001048357|RCV001759975; NMONDO:MONDO:0010632,MedGen:C3463992,OMIM:308350; MONDO:MONDO:0013687,MedGen:C3280452,OMIM:614322, Orphanet:284282|MedGen:CN51720216784208037842080316:g.78420803G>A-
NM_016373.4(WWOX):c.566G>A (p.Ser189Asn)51741WWOXUncertain significance776354746RCV000519802|RCV002525241|RCV002525242; NMedGen:CN517202|MONDO:MONDO:0010632,MedGen:C3463992,OMIM:308350; MONDO:MONDO:0013687,MedGen:C3280452,OMIM:614322, Orphanet:284282|MeSH:D030342,MedGen:C0950123167842080678420806NC_000016.9:g.78420806G>AClinGen:CA8183337
NM_016373.4(WWOX):c.567C>T (p.Ser189=)51741WWOXLikely benign201593515RCV001532283|RCV002071906; NMedGen:C3661900|MONDO:MONDO:0013687,MedGen:C3280452,OMIM:614322, Orphanet:284282; MONDO:MONDO:0010632,MedGen:C3463992,OMIM:30835016784208077842080778420807-
NM_016373.4(WWOX):c.568G>A (p.Val190Met)51741WWOXUncertain significance769400934RCV000554456|RCV002530205; NMONDO:MONDO:0013687,MedGen:C3280452,OMIM:614322, Orphanet:284282; MONDO:MONDO:0010632,MedGen:C3463992,OMIM:308350|MeSH:D030342,MedGen:C0950123167842080878420808NC_000016.9:g.78420808G>AClinGen:CA8183340C3463992 308350 Epileptic encephalopathy, early infantile, 1;
NM_016373.4(WWOX):c.568G>T (p.Val190Leu)51741WWOXUncertain significance769400934RCV001296533; NMONDO:MONDO:0010632,MedGen:C3463992,OMIM:308350; MONDO:MONDO:0013687,MedGen:C3280452,OMIM:614322, Orphanet:28428216784208087842080878420808-
NM_016373.4(WWOX):c.568G>C (p.Val190Leu)51741WWOXUncertain significance-1RCV002795588; NMONDO:MONDO:0013687,MedGen:C3280452,OMIM:614322, Orphanet:284282; MONDO:MONDO:0010632,MedGen:C3463992,OMIM:308350167842080878420808NC_000016.9:g.78420808G>C-
NM_016373.4(WWOX):c.579T>C (p.Phe193=)51741WWOXLikely benign554077107RCV000964589|RCV000616087|RCV001418373; NMedGen:C3661900|MedGen:CN169374|MONDO:MONDO:0010632,MedGen:C3463992,OMIM:308350; MONDO:MONDO:0013687,MedGen:C3280452,OMIM:614322, Orphanet:28428216784208197842081916:g.78420819T>CClinGen:CA8183343CN169374 not specified;
NM_016373.4(WWOX):c.583G>T (p.Glu195Ter)51741WWOXPathogenic/Likely pathogenic1567542020RCV000688699|RCV000760719; NMONDO:MONDO:0013687,MedGen:C3280452,OMIM:614322, Orphanet:284282; MONDO:MONDO:0010632,MedGen:C3463992,OMIM:308350|MedGen:CN517202167842082378420823NC_000016.9:g.78420823G>T-
NM_016373.4(WWOX):c.584A>C (p.Glu195Ala)51741WWOXUncertain significance2151934166RCV001952118; NMONDO:MONDO:0013687,MedGen:C3280452,OMIM:614322, Orphanet:284282; MONDO:MONDO:0010632,MedGen:C3463992,OMIM:30835016784208247842082478420824-
NM_016373.4(WWOX):c.586G>A (p.Ala196Thr)51741WWOXUncertain significance370367979RCV000650206; NMONDO:MONDO:0013687,MedGen:C3280452,OMIM:614322, Orphanet:284282; MONDO:MONDO:0010632,MedGen:C3463992,OMIM:30835016784208267842082616:g.78420826G>AClinGen:CA8183345C3463992 308350 Epileptic encephalopathy, early infantile, 1;
NM_016373.4(WWOX):c.587C>T (p.Ala196Val)51741WWOXUncertain significance754102799RCV000812243; NMONDO:MONDO:0010632,MedGen:C3463992,OMIM:308350; MONDO:MONDO:0013687,MedGen:C3280452,OMIM:614322, Orphanet:28428216784208277842082716:g.78420827C>T-
NM_016373.4(WWOX):c.588A>G (p.Ala196=)51741WWOXLikely benign-1RCV002615370; NMONDO:MONDO:0013687,MedGen:C3280452,OMIM:614322, Orphanet:284282; MONDO:MONDO:0010632,MedGen:C3463992,OMIM:308350167842082878420828-
NM_016373.4(WWOX):c.588A>C (p.Ala196=)51741WWOXLikely benign-1RCV002856474; NMONDO:MONDO:0013687,MedGen:C3280452,OMIM:614322, Orphanet:284282; MONDO:MONDO:0010632,MedGen:C3463992,OMIM:308350167842082878420828-
NM_016373.4(WWOX):c.591C>G (p.Phe197Leu)51741WWOXUncertain significance200847456RCV000489581|RCV001341820|RCV002489193; NMedGen:CN517202|MONDO:MONDO:0010632,MedGen:C3463992,OMIM:308350; MONDO:MONDO:0013687,MedGen:C3280452,OMIM:614322, Orphanet:284282|MONDO:MONDO:0007576,MedGen:C0546837,OMIM:133239, Orphanet:99977; MONDO:MONDO:0013687,MedGen:C3280452,OMIM:614322, Orphanet:28428167842083178420831NC_000016.9:g.78420831C>GClinGen:CA8183347
NM_016373.4(WWOX):c.592A>G (p.Lys198Glu)51741WWOXUncertain significance1199254958RCV001300128; NMONDO:MONDO:0010632,MedGen:C3463992,OMIM:308350; MONDO:MONDO:0013687,MedGen:C3280452,OMIM:614322, Orphanet:28428216784208327842083278420832-
NM_016373.4(WWOX):c.596C>G (p.Ala199Gly)51741WWOXUncertain significance890212192RCV000797084; NMONDO:MONDO:0010632,MedGen:C3463992,OMIM:308350; MONDO:MONDO:0013687,MedGen:C3280452,OMIM:614322, Orphanet:28428216784208367842083616:g.78420836C>G-
NM_016373.4(WWOX):c.599A>G (p.Lys200Arg)51741WWOXUncertain significance1011606866RCV000705902|RCV002534448; NMONDO:MONDO:0010632,MedGen:C3463992,OMIM:308350; MONDO:MONDO:0013687,MedGen:C3280452,OMIM:614322, Orphanet:284282|MeSH:D030342,MedGen:C0950123167842083978420839NC_000016.9:g.78420839A>G-C3463992 308350 Epileptic encephalopathy, early infantile, 1;
NM_016373.4(WWOX):c.605_605+3del51741WWOXLikely pathogenic767732033RCV001378782|RCV002274194|RCV003223420; NMONDO:MONDO:0013687,MedGen:C3280452,OMIM:614322, Orphanet:284282; MONDO:MONDO:0010632,MedGen:C3463992,OMIM:308350|MedGen:C3661900|MONDO:MONDO:0014533,MedGen:C4015519,OMIM:616211, Orphanet:44283516784208437842084678420842-
NM_016373.4(WWOX):c.604G>A (p.Val202Met)51741WWOXUncertain significance-1RCV003077962; NMONDO:MONDO:0013687,MedGen:C3280452,OMIM:614322, Orphanet:284282; MONDO:MONDO:0010632,MedGen:C3463992,OMIM:308350167842084478420844NC_000016.9:g.78420844G>A-
NM_016373.4(WWOX):c.605T>G (p.Val202Gly)51741WWOXUncertain significance112636835RCV000794349|RCV001816847|RCV001759496; NMONDO:MONDO:0010632,MedGen:C3463992,OMIM:308350; MONDO:MONDO:0013687,MedGen:C3280452,OMIM:614322, Orphanet:284282|MedGen:CN169374|MedGen:CN51720216784208457842084516:g.78420845T>G-
NM_016373.4(WWOX):c.605+1_605+2delinsAA51741WWOXLikely pathogenic2151934194RCV001993945; NMONDO:MONDO:0010632,MedGen:C3463992,OMIM:308350; MONDO:MONDO:0013687,MedGen:C3280452,OMIM:614322, Orphanet:28428216784208467842084778420846-
NM_016373.4(WWOX):c.605+6_605+18del51741WWOXUncertain significance775621555RCV001366513; NMONDO:MONDO:0013687,MedGen:C3280452,OMIM:614322, Orphanet:284282; MONDO:MONDO:0010632,MedGen:C3463992,OMIM:30835016784208487842086078420847-
NM_016373.4(WWOX):c.605+5G>A51741WWOXConflicting interpretations of pathogenicity1039151413RCV000522383|RCV000703936|RCV000850619|RCV003152608; NMedGen:CN517202|MONDO:MONDO:0010632,MedGen:C3463992,OMIM:308350; MONDO:MONDO:0013687,MedGen:C3280452,OMIM:614322, Orphanet:284282|MONDO:MONDO:0013687,MedGen:C3280452,OMIM:614322, Orphanet:284282; MONDO:MONDO:0014533,MedGen:C4015519,OMIM:616211, Orphanet:4428167842085078420850NC_000016.9:g.78420850G>AClinGen:CA623626138C3463992 308350 Epileptic encephalopathy, early infantile, 1;
NM_016373.4(WWOX):c.605+7G>A51741WWOXLikely benign900076277RCV002135348; NMONDO:MONDO:0013687,MedGen:C3280452,OMIM:614322, Orphanet:284282; MONDO:MONDO:0010632,MedGen:C3463992,OMIM:30835016784208527842085278420852-
NM_016373.4(WWOX):c.605+9T>A51741WWOXLikely benign368853054RCV000435192|RCV000714213|RCV001083274; NMedGen:CN169374|MedGen:C3661900|MONDO:MONDO:0010632,MedGen:C3463992,OMIM:308350; MONDO:MONDO:0013687,MedGen:C3280452,OMIM:614322, Orphanet:28428216784208547842085416:g.78420854T>AClinGen:CA8183352C3463992 308350 Epileptic encephalopathy, early infantile, 1;
NM_016373.4(WWOX):c.605+10C>G51741WWOXLikely benign201186695RCV000869200; NMONDO:MONDO:0010632,MedGen:C3463992,OMIM:308350; MONDO:MONDO:0013687,MedGen:C3280452,OMIM:614322, Orphanet:28428216784208557842085516:g.78420855C>G-
NM_016373.4(WWOX):c.605+10C>A51741WWOXLikely benign201186695RCV002065999; NMONDO:MONDO:0013687,MedGen:C3280452,OMIM:614322, Orphanet:284282; MONDO:MONDO:0010632,MedGen:C3463992,OMIM:30835016784208557842085516:g.78420855C>A-
NM_016373.4(WWOX):c.605+11C>T51741WWOXLikely benign1271857180RCV002113067; NMONDO:MONDO:0010632,MedGen:C3463992,OMIM:308350; MONDO:MONDO:0013687,MedGen:C3280452,OMIM:614322, Orphanet:28428216784208567842085678420856-
NM_016373.4(WWOX):c.605+12A>T51741WWOXLikely benign-1RCV002615587; NMONDO:MONDO:0013687,MedGen:C3280452,OMIM:614322, Orphanet:284282; MONDO:MONDO:0010632,MedGen:C3463992,OMIM:308350167842085778420857NC_000016.9:g.78420857A>T-
NM_016373.4(WWOX):c.605+19G>A51741WWOXLikely benign199843934RCV002156784; NMONDO:MONDO:0010632,MedGen:C3463992,OMIM:308350; MONDO:MONDO:0013687,MedGen:C3280452,OMIM:614322, Orphanet:28428216784208647842086478420864-
NM_016373.4(WWOX):c.605+20G>A51741WWOXLikely benign372217196RCV002113454; NMONDO:MONDO:0010632,MedGen:C3463992,OMIM:308350; MONDO:MONDO:0013687,MedGen:C3280452,OMIM:614322, Orphanet:28428216784208657842086578420865-
NC_000016.10:g.(?_78424850)_(78425075_?)del51741WWOXPathogenic-1RCV000528181; NMONDO:MONDO:0010632,MedGen:C3463992,OMIM:308350; MONDO:MONDO:0013687,MedGen:C3280452,OMIM:614322, Orphanet:284282167845874778458972-1-
NC_000016.9:g.(?_78458747)_(78466669_?)dup51741WWOXLikely pathogenic-1RCV000707889; NMONDO:MONDO:0013687,MedGen:C3280452,OMIM:614322, Orphanet:284282; MONDO:MONDO:0010632,MedGen:C3463992,OMIM:308350167845874778466669-C3463992 308350 Epileptic encephalopathy, early infantile, 1;
NC_000016.10:g.(?_78424850)_(78432772_?)del51741WWOXPathogenic-1RCV001032711; NMONDO:MONDO:0010632,MedGen:C3463992,OMIM:308350; MONDO:MONDO:0013687,MedGen:C3280452,OMIM:614322, Orphanet:284282167845874778466669-1-
NM_016373.4(WWOX):c.606-17G>A51741WWOXBenign4130513RCV000248269|RCV001511254|RCV002244646|RCV002244647; NMedGen:CN169374|MONDO:MONDO:0010632,MedGen:C3463992,OMIM:308350; MONDO:MONDO:0013687,MedGen:C3280452,OMIM:614322, Orphanet:284282|MONDO:MONDO:0013687,MedGen:C3280452,OMIM:614322, Orphanet:284282|MONDO:MONDO:0014533,MedGen:C4015519,OMIM:616211, Orphanet:442816784587507845875016:g.78458750G>AClinGen:CA8183380CN169374 not specified;
NM_016373.4(WWOX):c.606-16A>G51741WWOXUncertain significance139257288RCV001899489; NMONDO:MONDO:0010632,MedGen:C3463992,OMIM:308350; MONDO:MONDO:0013687,MedGen:C3280452,OMIM:614322, Orphanet:28428216784587517845875178458751-
NM_016373.4(WWOX):c.606-14A>G51741WWOXLikely benign-1RCV002594292; NMONDO:MONDO:0013687,MedGen:C3280452,OMIM:614322, Orphanet:284282; MONDO:MONDO:0010632,MedGen:C3463992,OMIM:308350167845875378458753NC_000016.9:g.78458753A>G-
NM_016373.4(WWOX):c.606-9A>G51741WWOXLikely benign370129950RCV002098244; NMONDO:MONDO:0010632,MedGen:C3463992,OMIM:308350; MONDO:MONDO:0013687,MedGen:C3280452,OMIM:614322, Orphanet:28428216784587587845875878458758-
NM_016373.4(WWOX):c.606G>C (p.Val202=)51741WWOXUncertain significance1232120355RCV001061929; NMONDO:MONDO:0010632,MedGen:C3463992,OMIM:308350; MONDO:MONDO:0013687,MedGen:C3280452,OMIM:614322, Orphanet:28428216784587677845876716:g.78458767G>C-
NM_016373.4(WWOX):c.610C>A (p.Leu204Ile)51741WWOXUncertain significance866341813RCV001214343; NMONDO:MONDO:0010632,MedGen:C3463992,OMIM:308350; MONDO:MONDO:0013687,MedGen:C3280452,OMIM:614322, Orphanet:28428216784587717845877116:g.78458771C>A-
NM_016373.4(WWOX):c.613C>A (p.His205Asn)51741WWOXBenign/Likely benign74860463RCV000253263|RCV000513720|RCV001086032|RCV002244648|RCV002244649; NMedGen:CN169374|MedGen:C3661900|MONDO:MONDO:0010632,MedGen:C3463992,OMIM:308350; MONDO:MONDO:0013687,MedGen:C3280452,OMIM:614322, Orphanet:284282|MONDO:MONDO:0013687,MedGen:C3280452,OMIM:614322, Orphanet:284282|MONDO:MONDO:0014533,MedGen:C4015519,OMIM:616216784587747845877416:g.78458774C>AClinGen:CA8183386C3463992 308350 Epileptic encephalopathy, early infantile, 1;
NM_016373.4(WWOX):c.614A>G (p.His205Arg)51741WWOXUncertain significance770649734RCV001056798; NMONDO:MONDO:0010632,MedGen:C3463992,OMIM:308350; MONDO:MONDO:0013687,MedGen:C3280452,OMIM:614322, Orphanet:28428216784587757845877516:g.78458775A>G-
NM_016373.4(WWOX):c.618G>C (p.Val206=)51741WWOXLikely benign376279847RCV000869656|RCV001704477; NMONDO:MONDO:0013687,MedGen:C3280452,OMIM:614322, Orphanet:284282; MONDO:MONDO:0010632,MedGen:C3463992,OMIM:308350|MedGen:C366190016784587797845877916:g.78458779G>CClinGen:CA8183392CN169374 not specified;
NM_016373.4(WWOX):c.618G>A (p.Val206=)51741WWOXBenign/Likely benign376279847RCV000650212|RCV001704379|RCV002244913|RCV002244914; NMONDO:MONDO:0013687,MedGen:C3280452,OMIM:614322, Orphanet:284282; MONDO:MONDO:0010632,MedGen:C3463992,OMIM:308350|MedGen:CN517202|MONDO:MONDO:0013687,MedGen:C3280452,OMIM:614322, Orphanet:284282|MONDO:MONDO:0014533,MedGen:C4015519,OMIM:616211, Orphanet:442816784587797845877916:g.78458779G>AClinGen:CA8183391C3463992 308350 Epileptic encephalopathy, early infantile, 1;
NM_016373.4(WWOX):c.624G>T (p.Val208=)51741WWOXLikely benign-1RCV002922886; NMONDO:MONDO:0013687,MedGen:C3280452,OMIM:614322, Orphanet:284282; MONDO:MONDO:0010632,MedGen:C3463992,OMIM:308350167845878578458785-
NM_016373.4(WWOX):c.629A>G (p.Asn210Ser)51741WWOXUncertain significance767929766RCV000845066|RCV001359608; NMONDO:MONDO:0013687,MedGen:C3280452,OMIM:614322, Orphanet:284282|MONDO:MONDO:0013687,MedGen:C3280452,OMIM:614322, Orphanet:284282; MONDO:MONDO:0010632,MedGen:C3463992,OMIM:30835016784587907845879016:g.78458790A>G-
NM_016373.4(WWOX):c.630C>T (p.Asn210=)51741WWOXLikely benign547619401RCV000864091|RCV003456441; NMONDO:MONDO:0010632,MedGen:C3463992,OMIM:308350; MONDO:MONDO:0013687,MedGen:C3280452,OMIM:614322, Orphanet:284282|MedGen:C366190016784587917845879116:g.78458791C>T-
NM_016373.4(WWOX):c.631G>A (p.Ala211Thr)51741WWOXUncertain significance370737224RCV001310339|RCV001326400; NMedGen:C3661900|MONDO:MONDO:0010632,MedGen:C3463992,OMIM:308350; MONDO:MONDO:0013687,MedGen:C3280452,OMIM:614322, Orphanet:28428216784587927845879278458792-
NM_016373.4(WWOX):c.633A>G (p.Ala211=)51741WWOXLikely benign1597215838RCV001483855; NMONDO:MONDO:0013687,MedGen:C3280452,OMIM:614322, Orphanet:284282; MONDO:MONDO:0010632,MedGen:C3463992,OMIM:30835016784587947845879416:g.78458794A>G-
NM_016373.4(WWOX):c.635C>T (p.Ala212Val)51741WWOXUncertain significance202006159RCV000499666|RCV000706104; NMedGen:CN169374|MONDO:MONDO:0013687,MedGen:C3280452,OMIM:614322, Orphanet:284282; MONDO:MONDO:0010632,MedGen:C3463992,OMIM:30835016784587967845879616:g.78458796C>TClinGen:CA8183397C3463992 308350 Epileptic encephalopathy, early infantile, 1;
NM_016373.4(WWOX):c.636A>C (p.Ala212=)51741WWOXLikely benign1201180702RCV001430882; NMONDO:MONDO:0010632,MedGen:C3463992,OMIM:308350; MONDO:MONDO:0013687,MedGen:C3280452,OMIM:614322, Orphanet:28428216784587977845879778458797-
NM_016373.4(WWOX):c.638C>A (p.Thr213Asn)51741WWOXUncertain significance753602303RCV000692735; NMONDO:MONDO:0013687,MedGen:C3280452,OMIM:614322, Orphanet:284282; MONDO:MONDO:0010632,MedGen:C3463992,OMIM:308350167845879978458799NC_000016.9:g.78458799C>A-C3463992 308350 Epileptic encephalopathy, early infantile, 1;
NM_016373.4(WWOX):c.640T>G (p.Phe214Val)51741WWOXUncertain significance-1RCV002825377; NMONDO:MONDO:0013687,MedGen:C3280452,OMIM:614322, Orphanet:284282; MONDO:MONDO:0010632,MedGen:C3463992,OMIM:308350167845880178458801NC_000016.9:g.78458801T>G-
NM_016373.4(WWOX):c.641T>A (p.Phe214Tyr)51741WWOXUncertain significance1474238209RCV001220197; NMONDO:MONDO:0010632,MedGen:C3463992,OMIM:308350; MONDO:MONDO:0013687,MedGen:C3280452,OMIM:614322, Orphanet:28428216784588027845880216:g.78458802T>A-
NM_016373.4(WWOX):c.645T>C (p.Ala215=)51741WWOXLikely benign-1RCV002725521; NMONDO:MONDO:0013687,MedGen:C3280452,OMIM:614322, Orphanet:284282; MONDO:MONDO:0010632,MedGen:C3463992,OMIM:308350167845880678458806-
NM_016373.4(WWOX):c.646C>G (p.Leu216Val)51741WWOXBenign7201683RCV000244851|RCV000473650|RCV002244650|RCV002244651; NMedGen:CN169374|MONDO:MONDO:0010632,MedGen:C3463992,OMIM:308350; MONDO:MONDO:0013687,MedGen:C3280452,OMIM:614322, Orphanet:284282|MONDO:MONDO:0013687,MedGen:C3280452,OMIM:614322, Orphanet:284282|MONDO:MONDO:0014533,MedGen:C4015519,OMIM:616211, Orphanet:4428167845880778458807NC_000016.9:g.78458807C>GClinGen:CA8183402,UniProtKB:Q9NZC7#VAR_052323C3463992 308350 Epileptic encephalopathy, early infantile, 1;
NM_016373.4(WWOX):c.647T>C (p.Leu216Pro)51741WWOXUncertain significance1385370021RCV001208705|RCV002274146; NMONDO:MONDO:0013687,MedGen:C3280452,OMIM:614322, Orphanet:284282; MONDO:MONDO:0010632,MedGen:C3463992,OMIM:308350|MedGen:CN51720216784588087845880816:g.78458808T>C-
NM_016373.4(WWOX):c.650C>G (p.Pro217Arg)51741WWOXUncertain significance777579075RCV002005307; NMONDO:MONDO:0013687,MedGen:C3280452,OMIM:614322, Orphanet:284282; MONDO:MONDO:0010632,MedGen:C3463992,OMIM:30835016784588117845881178458811-
NM_016373.4(WWOX):c.650C>T (p.Pro217Leu)51741WWOXUncertain significance-1RCV003011755; NMONDO:MONDO:0013687,MedGen:C3280452,OMIM:614322, Orphanet:284282; MONDO:MONDO:0010632,MedGen:C3463992,OMIM:308350167845881178458811NC_000016.9:g.78458811C>T-
NM_016373.4(WWOX):c.651C>G (p.Pro217=)51741WWOXLikely benign746893085RCV002136124; NMONDO:MONDO:0010632,MedGen:C3463992,OMIM:308350; MONDO:MONDO:0013687,MedGen:C3280452,OMIM:614322, Orphanet:28428216784588127845881278458812-
NM_016373.4(WWOX):c.656G>A (p.Ser219Asn)51741WWOXUncertain significance367599412RCV001066742; NMONDO:MONDO:0010632,MedGen:C3463992,OMIM:308350; MONDO:MONDO:0013687,MedGen:C3280452,OMIM:614322, Orphanet:28428216784588177845881716:g.78458817G>A-
NM_016373.4(WWOX):c.658C>G (p.Leu220Val)51741WWOXUncertain significance770774574RCV001766310|RCV002252703|RCV002540641|RCV001885089; NMedGen:C3661900||MeSH:D030342,MedGen:C0950123|MONDO:MONDO:0013687,MedGen:C3280452,OMIM:614322, Orphanet:284282; MONDO:MONDO:0010632,MedGen:C3463992,OMIM:30835016784588197845881978458819-
NM_016373.4(WWOX):c.666A>C (p.Lys222Asn)51741WWOXUncertain significance982171635RCV001230406; NMONDO:MONDO:0013687,MedGen:C3280452,OMIM:614322, Orphanet:284282; MONDO:MONDO:0010632,MedGen:C3463992,OMIM:30835016784588277845882716:g.78458827A>C-
NM_016373.4(WWOX):c.667G>A (p.Asp223Asn)51741WWOXUncertain significance768734917RCV000688729; NMONDO:MONDO:0013687,MedGen:C3280452,OMIM:614322, Orphanet:284282; MONDO:MONDO:0010632,MedGen:C3463992,OMIM:308350167845882878458828NC_000016.9:g.78458828G>A-C3463992 308350 Epileptic encephalopathy, early infantile, 1;
NM_016373.4(WWOX):c.668A>T (p.Asp223Val)51741WWOXUncertain significance1392246150RCV002043312; NMONDO:MONDO:0010632,MedGen:C3463992,OMIM:308350; MONDO:MONDO:0013687,MedGen:C3280452,OMIM:614322, Orphanet:28428216784588297845882978458829-
NM_016373.4(WWOX):c.669T>C (p.Asp223=)51741WWOXBenign/Likely benign72549408RCV000425787|RCV001513769|RCV002244915|RCV002244916; NMedGen:CN169374|MONDO:MONDO:0013687,MedGen:C3280452,OMIM:614322, Orphanet:284282; MONDO:MONDO:0010632,MedGen:C3463992,OMIM:308350|MONDO:MONDO:0013687,MedGen:C3280452,OMIM:614322, Orphanet:284282|MONDO:MONDO:0014533,MedGen:C4015519,OMIM:616211, Orphanet:442816784588307845883016:g.78458830T>CClinGen:CA8183409CN169374 not specified;
NM_016373.4(WWOX):c.670G>A (p.Gly224Ser)51741WWOXUncertain significance1349025177RCV001960200; NMONDO:MONDO:0013687,MedGen:C3280452,OMIM:614322, Orphanet:284282; MONDO:MONDO:0010632,MedGen:C3463992,OMIM:30835016784588317845883178458831-
NM_016373.4(WWOX):c.673C>G (p.Leu225Val)51741WWOXUncertain significance376040091RCV000522388|RCV000824069; NMedGen:CN517202|MONDO:MONDO:0010632,MedGen:C3463992,OMIM:308350; MONDO:MONDO:0013687,MedGen:C3280452,OMIM:614322, Orphanet:284282167845883478458834NC_000016.9:g.78458834C>GClinGen:CA8183410
NM_016373.4(WWOX):c.678G>A (p.Glu226=)51741WWOXLikely benign750905852RCV000525379; NMONDO:MONDO:0013687,MedGen:C3280452,OMIM:614322, Orphanet:284282; MONDO:MONDO:0010632,MedGen:C3463992,OMIM:30835016784588397845883916:g.78458839G>AClinGen:CA8183412C3463992 308350 Epileptic encephalopathy, early infantile, 1;
NM_016373.4(WWOX):c.682A>C (p.Thr228Pro)51741WWOXUncertain significance1567565338RCV000696735; NMONDO:MONDO:0010632,MedGen:C3463992,OMIM:308350; MONDO:MONDO:0013687,MedGen:C3280452,OMIM:614322, Orphanet:28428216784588437845884316:g.78458843A>C-C3463992 308350 Epileptic encephalopathy, early infantile, 1;
NM_016373.4(WWOX):c.683C>G (p.Thr228Ser)51741WWOXUncertain significance761250135RCV001370171; NMONDO:MONDO:0010632,MedGen:C3463992,OMIM:308350; MONDO:MONDO:0013687,MedGen:C3280452,OMIM:614322, Orphanet:28428216784588447845884478458844-
NM_016373.4(WWOX):c.683C>T (p.Thr228Ile)51741WWOXUncertain significance761250135RCV001985912; NMONDO:MONDO:0010632,MedGen:C3463992,OMIM:308350; MONDO:MONDO:0013687,MedGen:C3280452,OMIM:614322, Orphanet:28428216784588447845884478458844-
NM_016373.4(WWOX):c.684C>G (p.Thr228=)51741WWOXLikely benign-1RCV002760958; NMONDO:MONDO:0013687,MedGen:C3280452,OMIM:614322, Orphanet:284282; MONDO:MONDO:0010632,MedGen:C3463992,OMIM:308350167845884578458845-
NM_016373.4(WWOX):c.688C>G (p.Gln230Glu)51741WWOXUncertain significance1057524749RCV000429648|RCV001865403; NMedGen:CN517202|MONDO:MONDO:0013687,MedGen:C3280452,OMIM:614322, Orphanet:284282; MONDO:MONDO:0010632,MedGen:C3463992,OMIM:308350167845884978458849NC_000016.9:g.78458849C>GClinGen:CA16608276
NM_016373.4(WWOX):c.689A>C (p.Gln230Pro)51741WWOXPathogenic/Likely pathogenic-1RCV001004706|RCV001389252|RCV001814252|RCV002286798|RCV002249620|RCV002307653|RCV002505539|RCV003411947; NMONDO:MONDO:0014533,MedGen:C4015519,OMIM:616211, Orphanet:442835|MONDO:MONDO:0013687,MedGen:C3280452,OMIM:614322, Orphanet:284282; MONDO:MONDO:0010632,MedGen:C3463992,OMIM:308350|Human Phenotype Ontology:HP:0000707,Human Phenotype Ontology:HP:0001333,Human16784588507845885016:g.78458850A>C-
NM_016373.4(WWOX):c.690A>G (p.Gln230=)51741WWOXLikely benign372408512RCV002109844; NMONDO:MONDO:0010632,MedGen:C3463992,OMIM:308350; MONDO:MONDO:0013687,MedGen:C3280452,OMIM:614322, Orphanet:28428216784588517845885178458851-
NM_016373.4(WWOX):c.691G>C (p.Val231Leu)51741WWOXUncertain significance755974419RCV001053956|RCV001759794; NMONDO:MONDO:0010632,MedGen:C3463992,OMIM:308350; MONDO:MONDO:0013687,MedGen:C3280452,OMIM:614322, Orphanet:284282|MedGen:CN51720216784588527845885216:g.78458852G>C-
NM_016373.4(WWOX):c.697C>A (p.His233Asn)51741WWOXUncertain significance757863128RCV001219343|RCV001751418; NMONDO:MONDO:0010632,MedGen:C3463992,OMIM:308350; MONDO:MONDO:0013687,MedGen:C3280452,OMIM:614322, Orphanet:284282|MedGen:CN51720216784588587845885816:g.78458858C>A-
NM_016373.4(WWOX):c.698A>T (p.His233Leu)51741WWOXUncertain significance1266205670RCV002014119; NMONDO:MONDO:0010632,MedGen:C3463992,OMIM:308350; MONDO:MONDO:0013687,MedGen:C3280452,OMIM:614322, Orphanet:28428216784588597845885978458859-
NM_016373.4(WWOX):c.705dup (p.His236fs)51741WWOXPathogenic1597216056RCV000989641|RCV003117661|RCV003325982; NMONDO:MONDO:0010632,MedGen:C3463992,OMIM:308350|MONDO:MONDO:0013687,MedGen:C3280452,OMIM:614322, Orphanet:284282; MONDO:MONDO:0010632,MedGen:C3463992,OMIM:308350|MONDO:MONDO:0014533,MedGen:C4015519,OMIM:616211, Orphanet:44283516784588627845886316:g.78458862_78458863insG-
NM_016373.4(WWOX):c.702G>A (p.Leu234=)51741WWOXUncertain significance2151959991RCV001984258; NMONDO:MONDO:0010632,MedGen:C3463992,OMIM:308350; MONDO:MONDO:0013687,MedGen:C3280452,OMIM:614322, Orphanet:28428216784588637845886378458863-
NM_016373.4(WWOX):c.704G>T (p.Gly235Val)51741WWOXUncertain significance1169887175RCV001373190; NMONDO:MONDO:0010632,MedGen:C3463992,OMIM:308350; MONDO:MONDO:0013687,MedGen:C3280452,OMIM:614322, Orphanet:28428216784588657845886578458865-
NM_016373.4(WWOX):c.708C>G (p.His236Gln)51741WWOXUncertain significance745681407RCV000650194|RCV003140040; NMONDO:MONDO:0013687,MedGen:C3280452,OMIM:614322, Orphanet:284282; MONDO:MONDO:0010632,MedGen:C3463992,OMIM:308350|MedGen:CN51720216784588697845886916:g.78458869C>GClinGen:CA8183424C3463992 308350 Epileptic encephalopathy, early infantile, 1;
NM_016373.4(WWOX):c.711C>G (p.Phe237Leu)51741WWOXUncertain significance769589145RCV001327222|RCV002305599; NMONDO:MONDO:0013687,MedGen:C3280452,OMIM:614322, Orphanet:284282; MONDO:MONDO:0010632,MedGen:C3463992,OMIM:308350|MedGen:CN51720216784588727845887278458872-
NM_016373.4(WWOX):c.711C>A (p.Phe237Leu)51741WWOXUncertain significance769589145RCV001891317; NMONDO:MONDO:0010632,MedGen:C3463992,OMIM:308350; MONDO:MONDO:0013687,MedGen:C3280452,OMIM:614322, Orphanet:28428216784588727845887278458872-
NM_016373.4(WWOX):c.713A>G (p.Tyr238Cys)51741WWOXUncertain significance142806268RCV000442070|RCV000650207|RCV001731672; NMedGen:C3661900|MONDO:MONDO:0010632,MedGen:C3463992,OMIM:308350; MONDO:MONDO:0013687,MedGen:C3280452,OMIM:614322, Orphanet:284282|MONDO:MONDO:0013687,MedGen:C3280452,OMIM:614322, Orphanet:28428216784588747845887416:g.78458874A>GClinGen:CA8183426C3463992 308350 Epileptic encephalopathy, early infantile, 1;
NM_016373.4(WWOX):c.715C>G (p.Leu239Val)51741WWOXUncertain significance575080327RCV000540087; NMONDO:MONDO:0013687,MedGen:C3280452,OMIM:614322, Orphanet:284282; MONDO:MONDO:0010632,MedGen:C3463992,OMIM:308350167845887678458876NC_000016.9:g.78458876C>GClinGen:CA8183427C3463992 308350 Epileptic encephalopathy, early infantile, 1;
NM_016373.4(WWOX):c.721C>G (p.Gln241Glu)51741WWOXUncertain significance540386692RCV001226831; NMONDO:MONDO:0010632,MedGen:C3463992,OMIM:308350; MONDO:MONDO:0013687,MedGen:C3280452,OMIM:614322, Orphanet:28428216784588827845888216:g.78458882C>G-
NM_016373.4(WWOX):c.723G>A (p.Gln241=)51741WWOXLikely benign191029309RCV000866422|RCV001697793; NMONDO:MONDO:0013687,MedGen:C3280452,OMIM:614322, Orphanet:284282; MONDO:MONDO:0010632,MedGen:C3463992,OMIM:308350|MedGen:C366190016784588847845888416:g.78458884G>AClinGen:CA8183432CN169374 not specified;
NM_016373.4(WWOX):c.729C>G (p.Leu243=)51741WWOXLikely benign2083042980RCV001450970; NMONDO:MONDO:0010632,MedGen:C3463992,OMIM:308350; MONDO:MONDO:0013687,MedGen:C3280452,OMIM:614322, Orphanet:28428216784588907845889078458890-
NM_016373.4(WWOX):c.736G>A (p.Val246Ile)51741WWOXUncertain significance1262275069RCV002019106; NMONDO:MONDO:0013687,MedGen:C3280452,OMIM:614322, Orphanet:284282; MONDO:MONDO:0010632,MedGen:C3463992,OMIM:30835016784588977845889778458897-
NM_016373.4(WWOX):c.737T>C (p.Val246Ala)51741WWOXUncertain significance200966505RCV001982787|RCV003156364; NMONDO:MONDO:0010632,MedGen:C3463992,OMIM:308350; MONDO:MONDO:0013687,MedGen:C3280452,OMIM:614322, Orphanet:284282|MedGen:C366190016784588987845889878458898-
NM_016373.4(WWOX):c.739T>C (p.Leu247=)51741WWOXLikely benign1195368309RCV000866990|RCV001718888; NMONDO:MONDO:0013687,MedGen:C3280452,OMIM:614322, Orphanet:284282; MONDO:MONDO:0010632,MedGen:C3463992,OMIM:308350|MedGen:C366190016784589007845890016:g.78458900T>CClinGen:CA496609290CN169374 not specified;
NM_016373.4(WWOX):c.744C>T (p.Cys248=)51741WWOXLikely benign1597216164RCV001495389; NMONDO:MONDO:0010632,MedGen:C3463992,OMIM:308350; MONDO:MONDO:0013687,MedGen:C3280452,OMIM:614322, Orphanet:28428216784589057845890516:g.78458905C>T-
NM_016373.4(WWOX):c.745C>A (p.Arg249Ser)51741WWOXUncertain significance749277249RCV000523919|RCV001853656; NMedGen:CN517202|MONDO:MONDO:0010632,MedGen:C3463992,OMIM:308350; MONDO:MONDO:0013687,MedGen:C3280452,OMIM:614322, Orphanet:284282167845890678458906NC_000016.9:g.78458906C>AClinGen:CA8183438
NM_016373.4(WWOX):c.745C>T (p.Arg249Cys)51741WWOXConflicting interpretations of pathogenicity749277249RCV000698733|RCV001507347; NMONDO:MONDO:0010632,MedGen:C3463992,OMIM:308350; MONDO:MONDO:0013687,MedGen:C3280452,OMIM:614322, Orphanet:284282|MedGen:C366190016784589067845890616:g.78458906C>T-C3463992 308350 Epileptic encephalopathy, early infantile, 1;
NM_016373.4(WWOX):c.746G>A (p.Arg249His)51741WWOXUncertain significance756703833RCV000819563|RCV002487824|RCV002510989; NMONDO:MONDO:0013687,MedGen:C3280452,OMIM:614322, Orphanet:284282; MONDO:MONDO:0010632,MedGen:C3463992,OMIM:308350|MONDO:MONDO:0007576,MedGen:C0546837,OMIM:133239, Orphanet:99977; MONDO:MONDO:0014533,MedGen:C4015519,OMIM:616211, Orphanet:442835; MONDO:MONDO:0016784589077845890716:g.78458907G>A-
NM_016373.4(WWOX):c.747C>G (p.Arg249=)51741WWOXBenign/Likely benign375934868RCV000866718|RCV001718989|RCV002245046|RCV002245047; NMONDO:MONDO:0013687,MedGen:C3280452,OMIM:614322, Orphanet:284282; MONDO:MONDO:0010632,MedGen:C3463992,OMIM:308350|MedGen:C3661900|MONDO:MONDO:0013687,MedGen:C3280452,OMIM:614322, Orphanet:284282|MONDO:MONDO:0014533,MedGen:C4015519,OMIM:616211, Orphanet:442816784589087845890816:g.78458908C>GClinGen:CA8183442CN169374 not specified;
NM_016373.4(WWOX):c.748T>A (p.Ser250Thr)51741WWOXUncertain significance941156863RCV001924350; NMONDO:MONDO:0010632,MedGen:C3463992,OMIM:308350; MONDO:MONDO:0013687,MedGen:C3280452,OMIM:614322, Orphanet:28428216784589097845890978458909-
NM_016373.4(WWOX):c.749C>G (p.Ser250Ter)51741WWOXPathogenic/Likely pathogenic368928190RCV000413095|RCV001385286|RCV002518924; NMedGen:CN517202|MONDO:MONDO:0013687,MedGen:C3280452,OMIM:614322, Orphanet:284282; MONDO:MONDO:0010632,MedGen:C3463992,OMIM:308350|MeSH:D030342,MedGen:C095012316784589107845891016:g.78458910C>GClinGen:CA8183444C4015519 616211 Epileptic encephalopathy, early infantile, 28;
NM_016373.4(WWOX):c.754C>G (p.Pro252Ala)51741WWOXBenign75559202RCV000435836|RCV000460829|RCV000656054|RCV001796043|RCV002244884|RCV002244885; NMedGen:CN169374|MONDO:MONDO:0010632,MedGen:C3463992,OMIM:308350; MONDO:MONDO:0013687,MedGen:C3280452,OMIM:614322, Orphanet:284282|MONDO:MONDO:0007295,MedGen:C0376532, Orphanet:1945|MedGen:C3661900|MONDO:MONDO:0013687,MedGen:C3280452,OMIM:614322, Orphanet:2816784589157845891516:g.78458915C>GClinGen:CA8183447C3463992 308350 Epileptic encephalopathy, early infantile, 1;
NM_016373.4(WWOX):c.757G>T (p.Ala253Ser)51741WWOXUncertain significance896783193RCV000817501; NMONDO:MONDO:0013687,MedGen:C3280452,OMIM:614322, Orphanet:284282; MONDO:MONDO:0010632,MedGen:C3463992,OMIM:30835016784589187845891816:g.78458918G>T-
NM_016373.4(WWOX):c.758C>G (p.Ala253Gly)51741WWOXUncertain significance771068553RCV001304108; NMONDO:MONDO:0010632,MedGen:C3463992,OMIM:308350; MONDO:MONDO:0013687,MedGen:C3280452,OMIM:614322, Orphanet:28428216784589197845891978458919-
NM_016373.4(WWOX):c.759C>A (p.Ala253=)51741WWOXLikely benign1363794629RCV001413170|RCV003413769; NMONDO:MONDO:0010632,MedGen:C3463992,OMIM:308350; MONDO:MONDO:0013687,MedGen:C3280452,OMIM:614322, Orphanet:284282|MedGen:C366190016784589207845892016:g.78458920C>A-
NM_016373.4(WWOX):c.760C>T (p.Arg254Cys)51741WWOXUncertain significance369715848RCV001373127|RCV001823200; NMONDO:MONDO:0010632,MedGen:C3463992,OMIM:308350; MONDO:MONDO:0013687,MedGen:C3280452,OMIM:614322, Orphanet:284282|MedGen:C366190016784589217845892178458921-
NM_016373.4(WWOX):c.761G>A (p.Arg254His)51741WWOXUncertain significance-1RCV002603175; NMONDO:MONDO:0013687,MedGen:C3280452,OMIM:614322, Orphanet:284282; MONDO:MONDO:0010632,MedGen:C3463992,OMIM:308350167845892278458922NC_000016.9:g.78458922G>A-
NM_016373.4(WWOX):c.763G>A (p.Val255Ile)51741WWOXUncertain significance765590833RCV001366183; NMONDO:MONDO:0010632,MedGen:C3463992,OMIM:308350; MONDO:MONDO:0013687,MedGen:C3280452,OMIM:614322, Orphanet:28428216784589247845892478458924-
NM_016373.4(WWOX):c.764T>C (p.Val255Ala)51741WWOXUncertain significance-1RCV003064057; NMONDO:MONDO:0013687,MedGen:C3280452,OMIM:614322, Orphanet:284282; MONDO:MONDO:0010632,MedGen:C3463992,OMIM:308350167845892578458925NC_000016.9:g.78458925T>C-
NM_016373.4(WWOX):c.765C>A (p.Val255=)51741WWOXLikely benign1232507130RCV002175479; NMONDO:MONDO:0010632,MedGen:C3463992,OMIM:308350; MONDO:MONDO:0013687,MedGen:C3280452,OMIM:614322, Orphanet:28428216784589267845892678458926-
NM_016373.4(WWOX):c.765C>G (p.Val255=)51741WWOXLikely benign-1RCV003008454; NMONDO:MONDO:0013687,MedGen:C3280452,OMIM:614322, Orphanet:284282; MONDO:MONDO:0010632,MedGen:C3463992,OMIM:308350167845892678458926-
NM_016373.4(WWOX):c.766A>T (p.Ile256Phe)51741WWOXUncertain significance1023419687RCV000658284|RCV001038611|RCV001193911; NMedGen:CN517202|MONDO:MONDO:0013687,MedGen:C3280452,OMIM:614322, Orphanet:284282; MONDO:MONDO:0010632,MedGen:C3463992,OMIM:308350|MedGen:CN169374167845892778458927NC_000016.9:g.78458927A>T-
NM_016373.4(WWOX):c.766A>G (p.Ile256Val)51741WWOXUncertain significance1023419687RCV001924493; NMONDO:MONDO:0010632,MedGen:C3463992,OMIM:308350; MONDO:MONDO:0013687,MedGen:C3280452,OMIM:614322, Orphanet:28428216784589277845892778458927-
NM_016373.4(WWOX):c.767T>C (p.Ile256Thr)51741WWOXUncertain significance775895501RCV000489436|RCV001339951; NMedGen:CN517202|MONDO:MONDO:0010632,MedGen:C3463992,OMIM:308350; MONDO:MONDO:0013687,MedGen:C3280452,OMIM:614322, Orphanet:284282167845892878458928NC_000016.9:g.78458928T>CClinGen:CA8183452
NM_016373.4(WWOX):c.774C>G (p.Val258=)51741WWOXLikely benign1597216285RCV001816177|RCV003107855; NMedGen:C3661900|MONDO:MONDO:0010632,MedGen:C3463992,OMIM:308350; MONDO:MONDO:0013687,MedGen:C3280452,OMIM:614322, Orphanet:28428216784589357845893578458935-
NM_016373.4(WWOX):c.779C>G (p.Ser260Ter)51741WWOXPathogenic878855021RCV000234306; NMONDO:MONDO:0013687,MedGen:C3280452,OMIM:614322, Orphanet:284282; MONDO:MONDO:0010632,MedGen:C3463992,OMIM:30835016784589407845894016:g.78458940C>GClinGen:CA10583430C3463992 308350 Epileptic encephalopathy, early infantile, 1;
NM_016373.4(WWOX):c.780A>G (p.Ser260=)51741WWOXLikely benign2083044569RCV002203216; NMONDO:MONDO:0010632,MedGen:C3463992,OMIM:308350; MONDO:MONDO:0013687,MedGen:C3280452,OMIM:614322, Orphanet:28428216784589417845894178458941-
NM_016373.4(WWOX):c.782A>G (p.Glu261Gly)51741WWOXUncertain significance1464495960RCV001755477|RCV002544163; NMedGen:C3661900|MONDO:MONDO:0013687,MedGen:C3280452,OMIM:614322, Orphanet:284282; MONDO:MONDO:0010632,MedGen:C3463992,OMIM:30835016784589437845894378458943-
NM_016373.4(WWOX):c.786C>T (p.Ser262=)51741WWOXLikely benign376709568RCV000866126; NMONDO:MONDO:0013687,MedGen:C3280452,OMIM:614322, Orphanet:284282; MONDO:MONDO:0010632,MedGen:C3463992,OMIM:30835016784589477845894716:g.78458947C>T-
NM_016373.4(WWOX):c.789T>C (p.His263=)51741WWOXLikely benign2083044812RCV002186229; NMONDO:MONDO:0013687,MedGen:C3280452,OMIM:614322, Orphanet:284282; MONDO:MONDO:0010632,MedGen:C3463992,OMIM:30835016784589507845895078458950-
NM_016373.4(WWOX):c.790C>T (p.Arg264Ter)51741WWOXPathogenic756762196RCV000229073|RCV000486785|RCV000763386|RCV002273998; NMONDO:MONDO:0013687,MedGen:C3280452,OMIM:614322, Orphanet:284282; MONDO:MONDO:0010632,MedGen:C3463992,OMIM:308350|MedGen:CN517202|MONDO:MONDO:0007576,MedGen:C0546837,OMIM:133239, Orphanet:99977; MONDO:MONDO:0014533,MedGen:C4015519,OMIM:616211, Orphanet:44283167845895178458951NC_000016.9:g.78458951C>TClinGen:CA8183456C3463992 308350 Epileptic encephalopathy, early infantile, 1;
NM_016373.4(WWOX):c.790C>G (p.Arg264Gly)51741WWOXUncertain significance756762196RCV001961606; NMONDO:MONDO:0010632,MedGen:C3463992,OMIM:308350; MONDO:MONDO:0013687,MedGen:C3280452,OMIM:614322, Orphanet:28428216784589517845895178458951-
NM_016373.4(WWOX):c.791G>A (p.Arg264Gln)51741WWOXUncertain significance-1RCV002599769; NMONDO:MONDO:0013687,MedGen:C3280452,OMIM:614322, Orphanet:284282; MONDO:MONDO:0010632,MedGen:C3463992,OMIM:308350167845895278458952NC_000016.9:g.78458952G>A-
NM_016373.4(WWOX):c.791+1G>T51741WWOXLikely pathogenic1164465811RCV001378810; NMONDO:MONDO:0013687,MedGen:C3280452,OMIM:614322, Orphanet:284282; MONDO:MONDO:0010632,MedGen:C3463992,OMIM:30835016784589537845895378458953-
NM_016373.4(WWOX):c.791+4G>T51741WWOXUncertain significance766952918RCV000798304|RCV002252238; NMONDO:MONDO:0010632,MedGen:C3463992,OMIM:308350; MONDO:MONDO:0013687,MedGen:C3280452,OMIM:614322, Orphanet:284282|16784589567845895616:g.78458956G>T-
NM_016373.4(WWOX):c.791+4G>C51741WWOXUncertain significance-1RCV002614117; NMONDO:MONDO:0013687,MedGen:C3280452,OMIM:614322, Orphanet:284282; MONDO:MONDO:0010632,MedGen:C3463992,OMIM:308350167845895678458956NC_000016.9:g.78458956G>C-
NM_016373.4(WWOX):c.791+5G>C51741WWOXUncertain significance756074406RCV000554823; NMONDO:MONDO:0013687,MedGen:C3280452,OMIM:614322, Orphanet:284282; MONDO:MONDO:0010632,MedGen:C3463992,OMIM:308350167845895778458957NC_000016.9:g.78458957G>CClinGen:CA8183459C3463992 308350 Epileptic encephalopathy, early infantile, 1;
NM_016373.4(WWOX):c.791+11A>G51741WWOXLikely benign779754174RCV002197164; NMONDO:MONDO:0010632,MedGen:C3463992,OMIM:308350; MONDO:MONDO:0013687,MedGen:C3280452,OMIM:614322, Orphanet:28428216784589637845896378458963-
NM_016373.4(WWOX):c.791+14G>A51741WWOXLikely benign753689854RCV002187684; NMONDO:MONDO:0010632,MedGen:C3463992,OMIM:308350; MONDO:MONDO:0013687,MedGen:C3280452,OMIM:614322, Orphanet:28428216784589667845896678458966-
NM_016373.4(WWOX):c.791+16A>G51741WWOXLikely benign2083045240RCV002211628; NMONDO:MONDO:0010632,MedGen:C3463992,OMIM:308350; MONDO:MONDO:0013687,MedGen:C3280452,OMIM:614322, Orphanet:28428216784589687845896878458968-
NM_016373.4(WWOX):c.791+20T>C51741WWOXLikely benign-1RCV003018865; NMONDO:MONDO:0013687,MedGen:C3280452,OMIM:614322, Orphanet:284282; MONDO:MONDO:0010632,MedGen:C3463992,OMIM:308350167845897278458972NC_000016.9:g.78458972T>C-
NC_000016.10:g.(?_78432468)_(78432772_?)del51741WWOXLikely pathogenic-1RCV000650219; NMONDO:MONDO:0010632,MedGen:C3463992,OMIM:308350; MONDO:MONDO:0013687,MedGen:C3280452,OMIM:614322, Orphanet:284282167846636578466669-C3463992 308350 Epileptic encephalopathy, early infantile, 1;
NM_016373.4(WWOX):c.792-20T>C51741WWOXLikely benign2151385825RCV002108743; NMONDO:MONDO:0010632,MedGen:C3463992,OMIM:308350; MONDO:MONDO:0013687,MedGen:C3280452,OMIM:614322, Orphanet:28428216784663657846636578466365-
NM_016373.4(WWOX):c.792-15T>C51741WWOXLikely benign769065057RCV000610527|RCV002066881; NMedGen:CN169374|MONDO:MONDO:0010632,MedGen:C3463992,OMIM:308350; MONDO:MONDO:0013687,MedGen:C3280452,OMIM:614322, Orphanet:28428216784663707846637016:g.78466370T>CClinGen:CA658798639CN169374 not specified;
NM_016373.4(WWOX):c.792-9A>G51741WWOXLikely benign376320385RCV002148533; NMONDO:MONDO:0010632,MedGen:C3463992,OMIM:308350; MONDO:MONDO:0013687,MedGen:C3280452,OMIM:614322, Orphanet:28428216784663767846637678466376-
NM_016373.4(WWOX):c.792-6T>G51741WWOXLikely benign771690273RCV001881430; NMONDO:MONDO:0013687,MedGen:C3280452,OMIM:614322, Orphanet:284282; MONDO:MONDO:0010632,MedGen:C3463992,OMIM:30835016784663797846637978466379-
NM_016373.4(WWOX):c.792A>G (p.Arg264=)51741WWOXUncertain significance-1RCV003039428; NMONDO:MONDO:0013687,MedGen:C3280452,OMIM:614322, Orphanet:284282; MONDO:MONDO:0010632,MedGen:C3463992,OMIM:308350167846638578466385-
NM_016373.4(WWOX):c.793T>A (p.Phe265Ile)51741WWOXUncertain significance2083245410RCV001233173; NMONDO:MONDO:0013687,MedGen:C3280452,OMIM:614322, Orphanet:284282; MONDO:MONDO:0010632,MedGen:C3463992,OMIM:30835016784663867846638616:g.78466386T>A-
NM_016373.4(WWOX):c.798A>C (p.Thr266=)51741WWOXLikely benign377727422RCV001438165; NMONDO:MONDO:0013687,MedGen:C3280452,OMIM:614322, Orphanet:284282; MONDO:MONDO:0010632,MedGen:C3463992,OMIM:30835016784663917846639178466391-
NM_016373.4(WWOX):c.798A>G (p.Thr266=)51741WWOXLikely benign377727422RCV002174730; NMONDO:MONDO:0010632,MedGen:C3463992,OMIM:308350; MONDO:MONDO:0013687,MedGen:C3280452,OMIM:614322, Orphanet:28428216784663917846639178466391-
NM_016373.4(WWOX):c.800A>G (p.Asp267Gly)51741WWOXUncertain significance-1RCV002928532; NMONDO:MONDO:0013687,MedGen:C3280452,OMIM:614322, Orphanet:284282; MONDO:MONDO:0010632,MedGen:C3463992,OMIM:308350167846639378466393NC_000016.9:g.78466393A>G-
NM_016373.4(WWOX):c.803T>A (p.Ile268Asn)51741WWOXUncertain significance-1RCV003080802; NMONDO:MONDO:0013687,MedGen:C3280452,OMIM:614322, Orphanet:284282; MONDO:MONDO:0010632,MedGen:C3463992,OMIM:308350167846639678466396NC_000016.9:g.78466396T>A-
NM_016373.4(WWOX):c.807C>T (p.Asn269=)51741WWOXBenign/Likely benign62034095RCV000501786|RCV000714214|RCV001083409|RCV002244942|RCV002244943; NMedGen:CN169374|MedGen:C3661900|MONDO:MONDO:0010632,MedGen:C3463992,OMIM:308350; MONDO:MONDO:0013687,MedGen:C3280452,OMIM:614322, Orphanet:284282|MONDO:MONDO:0013687,MedGen:C3280452,OMIM:614322, Orphanet:284282|MONDO:MONDO:0014533,MedGen:C4015519,OMIM:6162167846640078466400NC_000016.9:g.78466400C>TClinGen:CA8183498C3463992 308350 Epileptic encephalopathy, early infantile, 1;
NM_016373.4(WWOX):c.812C>T (p.Ser271Phe)51741WWOXUncertain significance758222414RCV001215184; NMONDO:MONDO:0010632,MedGen:C3463992,OMIM:308350; MONDO:MONDO:0013687,MedGen:C3280452,OMIM:614322, Orphanet:28428216784664057846640516:g.78466405C>T-
NM_016373.4(WWOX):c.816G>T (p.Leu272Phe)51741WWOXConflicting interpretations of pathogenicity186745328RCV000443525|RCV001080349|RCV001820753; NMedGen:C3661900|MONDO:MONDO:0010632,MedGen:C3463992,OMIM:308350; MONDO:MONDO:0013687,MedGen:C3280452,OMIM:614322, Orphanet:284282|MedGen:CN16937416784664097846640916:g.78466409G>TClinGen:CA8183503,UniProtKB:Q9NZC7#VAR_023920C3463992 308350 Epileptic encephalopathy, early infantile, 1;
NM_016373.4(WWOX):c.818G>A (p.Gly273Glu)51741WWOXUncertain significance756228469RCV001242345|RCV003156326; NMONDO:MONDO:0010632,MedGen:C3463992,OMIM:308350; MONDO:MONDO:0013687,MedGen:C3280452,OMIM:614322, Orphanet:284282|MedGen:CN51720216784664117846641116:g.78466411G>A-
NM_016373.4(WWOX):c.823C>T (p.Leu275=)51741WWOXLikely benign1272996029RCV000543900; NMONDO:MONDO:0013687,MedGen:C3280452,OMIM:614322, Orphanet:284282; MONDO:MONDO:0010632,MedGen:C3463992,OMIM:30835016784664167846641616:g.78466416C>TClinGen:CA496697932C3463992 308350 Epileptic encephalopathy, early infantile, 1;
NM_016373.4(WWOX):c.827A>C (p.Asp276Ala)51741WWOXUncertain significance2083246915RCV002014842; NMONDO:MONDO:0010632,MedGen:C3463992,OMIM:308350; MONDO:MONDO:0013687,MedGen:C3280452,OMIM:614322, Orphanet:28428216784664207846642078466420-
NM_016373.4(WWOX):c.828C>G (p.Asp276Glu)51741WWOXUncertain significance372225190RCV000692524; NMONDO:MONDO:0013687,MedGen:C3280452,OMIM:614322, Orphanet:284282; MONDO:MONDO:0010632,MedGen:C3463992,OMIM:30835016784664217846642116:g.78466421C>G-C3463992 308350 Epileptic encephalopathy, early infantile, 1;
NM_016373.4(WWOX):c.833G>A (p.Ser278Asn)51741WWOXUncertain significance-1RCV003013143; NMONDO:MONDO:0013687,MedGen:C3280452,OMIM:614322, Orphanet:284282; MONDO:MONDO:0010632,MedGen:C3463992,OMIM:308350167846642678466426NC_000016.9:g.78466426G>A-
NM_016373.4(WWOX):c.835C>T (p.Arg279Cys)51741WWOXBenign/Likely benign77314072RCV000224551|RCV000430448|RCV001084200|RCV002243899|RCV002243900; NMedGen:C3661900|MedGen:CN169374|MONDO:MONDO:0013687,MedGen:C3280452,OMIM:614322, Orphanet:284282; MONDO:MONDO:0010632,MedGen:C3463992,OMIM:308350|MONDO:MONDO:0013687,MedGen:C3280452,OMIM:614322, Orphanet:284282|MONDO:MONDO:0014533,MedGen:C4015519,OMIM:616216784664287846642816:g.78466428C>TClinGen:CA8183508C3463992 308350 Epileptic encephalopathy, early infantile, 1;
NM_016373.4(WWOX):c.836G>A (p.Arg279His)51741WWOXLikely benign748534396RCV001954097; NMONDO:MONDO:0013687,MedGen:C3280452,OMIM:614322, Orphanet:284282; MONDO:MONDO:0010632,MedGen:C3463992,OMIM:30835016784664297846642978466429-
NM_016373.4(WWOX):c.838C>G (p.Leu280Val)51741WWOXUncertain significance-1RCV002976695; NMONDO:MONDO:0013687,MedGen:C3280452,OMIM:614322, Orphanet:284282; MONDO:MONDO:0010632,MedGen:C3463992,OMIM:308350167846643178466431NC_000016.9:g.78466431C>G-
NM_016373.4(WWOX):c.840C>G (p.Leu280=)51741WWOXLikely benign772356641RCV001472306; NMONDO:MONDO:0010632,MedGen:C3463992,OMIM:308350; MONDO:MONDO:0013687,MedGen:C3280452,OMIM:614322, Orphanet:28428216784664337846643316:g.78466433C>G-
NM_016373.4(WWOX):c.840C>T (p.Leu280=)51741WWOXLikely benign-1RCV002928535; NMONDO:MONDO:0013687,MedGen:C3280452,OMIM:614322, Orphanet:284282; MONDO:MONDO:0010632,MedGen:C3463992,OMIM:308350167846643378466433-
NM_016373.4(WWOX):c.842C>T (p.Ser281Phe)51741WWOXUncertain significance1567570252RCV000694008; NMONDO:MONDO:0013687,MedGen:C3280452,OMIM:614322, Orphanet:284282; MONDO:MONDO:0010632,MedGen:C3463992,OMIM:30835016784664357846643516:g.78466435C>T-C3463992 308350 Epileptic encephalopathy, early infantile, 1;
NM_016373.4(WWOX):c.843T>A (p.Ser281=)51741WWOXLikely benign367855242RCV001462144; NMONDO:MONDO:0010632,MedGen:C3463992,OMIM:308350; MONDO:MONDO:0013687,MedGen:C3280452,OMIM:614322, Orphanet:28428216784664367846643616:g.78466436T>A-
NM_016373.4(WWOX):c.843_844delinsCG (p.Pro282Ala)51741WWOXLikely benign-1RCV002881461; NMONDO:MONDO:0013687,MedGen:C3280452,OMIM:614322, Orphanet:284282; MONDO:MONDO:0010632,MedGen:C3463992,OMIM:308350167846643678466437NC_000016.9:g.78466436_78466437delinsCG-
NM_016373.4(WWOX):c.844C>G (p.Pro282Ala)51741WWOXBenign3764340RCV000249793|RCV001511255|RCV002244652|RCV002244653; NMedGen:CN169374|MONDO:MONDO:0010632,MedGen:C3463992,OMIM:308350; MONDO:MONDO:0013687,MedGen:C3280452,OMIM:614322, Orphanet:284282|MONDO:MONDO:0013687,MedGen:C3280452,OMIM:614322, Orphanet:284282|MONDO:MONDO:0014533,MedGen:C4015519,OMIM:616211, Orphanet:4428167846643778466437NC_000016.9:g.78466437C>GClinGen:CA8183512,UniProtKB:Q9NZC7#VAR_023921CN169374 not specified;
NM_016373.4(WWOX):c.845C>T (p.Pro282Leu)51741WWOXUncertain significance770542796RCV001362487; NMONDO:MONDO:0010632,MedGen:C3463992,OMIM:308350; MONDO:MONDO:0013687,MedGen:C3280452,OMIM:614322, Orphanet:28428216784664387846643878466438-
NM_016373.4(WWOX):c.845C>A (p.Pro282Gln)51741WWOXUncertain significance-1RCV002667482; NMONDO:MONDO:0013687,MedGen:C3280452,OMIM:614322, Orphanet:284282; MONDO:MONDO:0010632,MedGen:C3463992,OMIM:308350167846643878466438NC_000016.9:g.78466438C>A-
NM_016373.4(WWOX):c.847A>G (p.Thr283Ala)51741WWOXUncertain significance1037290766RCV001233890; NMONDO:MONDO:0013687,MedGen:C3280452,OMIM:614322, Orphanet:284282; MONDO:MONDO:0010632,MedGen:C3463992,OMIM:30835016784664407846644016:g.78466440A>G-
NM_016373.4(WWOX):c.847A>T (p.Thr283Ser)51741WWOXUncertain significance-1RCV002725852; NMONDO:MONDO:0013687,MedGen:C3280452,OMIM:614322, Orphanet:284282; MONDO:MONDO:0010632,MedGen:C3463992,OMIM:308350167846644078466440NC_000016.9:g.78466440A>T-
NM_016373.4(WWOX):c.848C>A (p.Thr283Lys)51741WWOXUncertain significance1186552961RCV000554060; NMONDO:MONDO:0013687,MedGen:C3280452,OMIM:614322, Orphanet:284282; MONDO:MONDO:0010632,MedGen:C3463992,OMIM:30835016784664417846644116:g.78466441C>AClinGen:CA396843137C3463992 308350 Epileptic encephalopathy, early infantile, 1;
NM_016373.4(WWOX):c.854dup (p.Asn285fs)51741WWOXPathogenic1394607357RCV001211320; NMONDO:MONDO:0010632,MedGen:C3463992,OMIM:308350; MONDO:MONDO:0013687,MedGen:C3280452,OMIM:614322, Orphanet:28428216784664417846644216:g.78466441_78466442insA-
NM_016373.4(WWOX):c.851A>G (p.Lys284Arg)51741WWOXConflicting interpretations of pathogenicity897453553RCV000414593|RCV000532362|RCV001591051; NMedGen:CN169374|MONDO:MONDO:0013687,MedGen:C3280452,OMIM:614322, Orphanet:284282; MONDO:MONDO:0010632,MedGen:C3463992,OMIM:308350|MedGen:C366190016784664447846644416:g.78466444A>GClinGen:CA16043024C3463992 308350 Epileptic encephalopathy, early infantile, 1;
NM_016373.4(WWOX):c.855C>T (p.Asn285=)51741WWOXLikely benign767903006RCV001926224; NMONDO:MONDO:0010632,MedGen:C3463992,OMIM:308350; MONDO:MONDO:0013687,MedGen:C3280452,OMIM:614322, Orphanet:28428216784664487846644878466448-
NM_016373.4(WWOX):c.856G>T (p.Asp286Tyr)51741WWOXUncertain significance374658336RCV000420839|RCV000704870; NMedGen:CN517202|MONDO:MONDO:0013687,MedGen:C3280452,OMIM:614322, Orphanet:284282; MONDO:MONDO:0010632,MedGen:C3463992,OMIM:30835016784664497846644916:g.78466449G>TClinGen:CA8183520C3463992 308350 Epileptic encephalopathy, early infantile, 1;
NM_016373.4(WWOX):c.856G>C (p.Asp286His)51741WWOXUncertain significance374658336RCV001361132; NMONDO:MONDO:0010632,MedGen:C3463992,OMIM:308350; MONDO:MONDO:0013687,MedGen:C3280452,OMIM:614322, Orphanet:28428216784664497846644978466449-
NM_016373.4(WWOX):c.860A>G (p.Tyr287Cys)51741WWOXUncertain significance369890118RCV001367038; NMONDO:MONDO:0013687,MedGen:C3280452,OMIM:614322, Orphanet:284282; MONDO:MONDO:0010632,MedGen:C3463992,OMIM:30835016784664537846645378466453-
NM_016373.4(WWOX):c.866C>T (p.Ala289Val)51741WWOXConflicting interpretations of pathogenicity753894507RCV001371642|RCV001560188; NMONDO:MONDO:0010632,MedGen:C3463992,OMIM:308350; MONDO:MONDO:0013687,MedGen:C3280452,OMIM:614322, Orphanet:284282|MedGen:C366190016784664597846645978466459-
NM_016373.4(WWOX):c.867G>A (p.Ala289=)51741WWOXLikely benign755002954RCV000607687|RCV001469625; NMedGen:CN169374|MONDO:MONDO:0010632,MedGen:C3463992,OMIM:308350; MONDO:MONDO:0013687,MedGen:C3280452,OMIM:614322, Orphanet:28428216784664607846646016:g.78466460G>AClinGen:CA8183524CN169374 not specified;
NM_016373.4(WWOX):c.867G>C (p.Ala289=)51741WWOXLikely benign755002954RCV000650218; NMONDO:MONDO:0013687,MedGen:C3280452,OMIM:614322, Orphanet:284282; MONDO:MONDO:0010632,MedGen:C3463992,OMIM:308350167846646078466460NC_000016.9:g.78466460G>CClinGen:CA284547246C3463992 308350 Epileptic encephalopathy, early infantile, 1;
NM_016373.4(WWOX):c.869T>C (p.Met290Thr)51741WWOXUncertain significance1035627222RCV000547098; NMONDO:MONDO:0013687,MedGen:C3280452,OMIM:614322, Orphanet:284282; MONDO:MONDO:0010632,MedGen:C3463992,OMIM:30835016784664627846646216:g.78466462T>CClinGen:CA284547249C3463992 308350 Epileptic encephalopathy, early infantile, 1;
NM_016373.4(WWOX):c.870G>A (p.Met290Ile)51741WWOXUncertain significance199809390RCV001352209; NMONDO:MONDO:0010632,MedGen:C3463992,OMIM:308350; MONDO:MONDO:0013687,MedGen:C3280452,OMIM:614322, Orphanet:28428216784664637846646378466463-
NM_016373.4(WWOX):c.871C>T (p.Leu291=)51741WWOXLikely benign1230337512RCV001403494; NMONDO:MONDO:0010632,MedGen:C3463992,OMIM:308350; MONDO:MONDO:0013687,MedGen:C3280452,OMIM:614322, Orphanet:28428216784664647846646478466464-
NM_016373.4(WWOX):c.872T>C (p.Leu291Pro)51741WWOXUncertain significance119487098RCV000005513|RCV002298434; NMedGen:C4016881|MONDO:MONDO:0010632,MedGen:C3463992,OMIM:308350; MONDO:MONDO:0013687,MedGen:C3280452,OMIM:614322, Orphanet:28428216784664657846646516:g.78466465T>CClinGen:CA117326,UniProtKB:Q9NZC7#VAR_023922,OMIM:605131.0001C4016881 Esophageal squamous cell carcinoma, somatic;
NM_016373.4(WWOX):c.874G>T (p.Ala292Ser)51741WWOXUncertain significance376560613RCV001039393; NMONDO:MONDO:0010632,MedGen:C3463992,OMIM:308350; MONDO:MONDO:0013687,MedGen:C3280452,OMIM:614322, Orphanet:28428216784664677846646716:g.78466467G>T-
NM_016373.4(WWOX):c.874G>C (p.Ala292Pro)51741WWOXUncertain significance376560613RCV001342964; NMONDO:MONDO:0013687,MedGen:C3280452,OMIM:614322, Orphanet:284282; MONDO:MONDO:0010632,MedGen:C3463992,OMIM:30835016784664677846646778466467-
NM_016373.4(WWOX):c.876T>G (p.Ala292=)51741WWOXBenign/Likely benign74030232RCV000427016|RCV000469221|RCV001703730|RCV002244887|RCV002244888; NMedGen:CN169374|MONDO:MONDO:0010632,MedGen:C3463992,OMIM:308350; MONDO:MONDO:0013687,MedGen:C3280452,OMIM:614322, Orphanet:284282|MedGen:C3661900|MONDO:MONDO:0013687,MedGen:C3280452,OMIM:614322, Orphanet:284282|MONDO:MONDO:0014533,MedGen:C4015519,OMIM:616216784664697846646916:g.78466469T>GClinGen:CA8183531C3463992 308350 Epileptic encephalopathy, early infantile, 1;
NM_016373.4(WWOX):c.876T>C (p.Ala292=)51741WWOXBenign74030232RCV000434624|RCV000476648|RCV002244889|RCV002244890|RCV003311809; NMedGen:CN169374|MONDO:MONDO:0010632,MedGen:C3463992,OMIM:308350; MONDO:MONDO:0013687,MedGen:C3280452,OMIM:614322, Orphanet:284282|MONDO:MONDO:0013687,MedGen:C3280452,OMIM:614322, Orphanet:284282|MONDO:MONDO:0014533,MedGen:C4015519,OMIM:616211, Orphanet:442816784664697846646916:g.78466469T>CClinGen:CA8183530C3463992 308350 Epileptic encephalopathy, early infantile, 1;
NM_016373.4(WWOX):c.880A>G (p.Asn294Asp)51741WWOXUncertain significance775585652RCV001069138; NMONDO:MONDO:0010632,MedGen:C3463992,OMIM:308350; MONDO:MONDO:0013687,MedGen:C3280452,OMIM:614322, Orphanet:28428216784664737846647316:g.78466473A>G-
NM_016373.4(WWOX):c.882C>G (p.Asn294Lys)51741WWOXUncertain significance2151386030RCV001369738; NMONDO:MONDO:0010632,MedGen:C3463992,OMIM:308350; MONDO:MONDO:0013687,MedGen:C3280452,OMIM:614322, Orphanet:28428216784664757846647578466475-
NM_016373.4(WWOX):c.884G>C (p.Arg295Thr)51741WWOXUncertain significance-1RCV003020741; NMONDO:MONDO:0013687,MedGen:C3280452,OMIM:614322, Orphanet:284282; MONDO:MONDO:0010632,MedGen:C3463992,OMIM:308350167846647778466477NC_000016.9:g.78466477G>C-
NM_016373.4(WWOX):c.885G>A (p.Arg295=)51741WWOXConflicting interpretations of pathogenicity79771882RCV000193579|RCV000714215|RCV001086884; NMedGen:CN169374|MedGen:C3661900|MONDO:MONDO:0010632,MedGen:C3463992,OMIM:308350; MONDO:MONDO:0013687,MedGen:C3280452,OMIM:614322, Orphanet:284282167846647878466478NC_000016.9:g.78466478G>AClinGen:CA207157C3463992 308350 Epileptic encephalopathy, early infantile, 1;
NM_016373.4(WWOX):c.887C>G (p.Ser296Cys)51741WWOXUncertain significance1385421754RCV000798333; NMONDO:MONDO:0010632,MedGen:C3463992,OMIM:308350; MONDO:MONDO:0013687,MedGen:C3280452,OMIM:614322, Orphanet:28428216784664807846648016:g.78466480C>G-
NM_016373.4(WWOX):c.888C>G (p.Ser296=)51741WWOXBenign3764341RCV000423983|RCV000714216|RCV001085141|RCV002244906|RCV002244905; NMedGen:CN169374|MedGen:C3661900|MONDO:MONDO:0010632,MedGen:C3463992,OMIM:308350; MONDO:MONDO:0013687,MedGen:C3280452,OMIM:614322, Orphanet:284282|MONDO:MONDO:0014533,MedGen:C4015519,OMIM:616211, Orphanet:442835|MONDO:MONDO:0013687,MedGen:C3280452,OMIM:614316784664817846648116:g.78466481C>GClinGen:CA8183537C3463992 308350 Epileptic encephalopathy, early infantile, 1;
NM_016373.4(WWOX):c.891G>A (p.Lys297=)51741WWOXLikely benign-1RCV002651171; NMONDO:MONDO:0013687,MedGen:C3280452,OMIM:614322, Orphanet:284282; MONDO:MONDO:0010632,MedGen:C3463992,OMIM:308350167846648478466484-
NM_016373.4(WWOX):c.892C>G (p.Leu298Val)51741WWOXUncertain significance-1RCV002710480; NMONDO:MONDO:0013687,MedGen:C3280452,OMIM:614322, Orphanet:284282; MONDO:MONDO:0010632,MedGen:C3463992,OMIM:308350167846648578466485NC_000016.9:g.78466485C>G-
NM_016373.4(WWOX):c.898A>G (p.Asn300Asp)51741WWOXUncertain significance374541202RCV000229679|RCV000502667|RCV003137849; NMONDO:MONDO:0010632,MedGen:C3463992,OMIM:308350; MONDO:MONDO:0013687,MedGen:C3280452,OMIM:614322, Orphanet:284282|MedGen:CN169374|MedGen:C366190016784664917846649116:g.78466491A>GClinGen:CA8183541C3463992 308350 Epileptic encephalopathy, early infantile, 1;
NM_016373.4(WWOX):c.899A>G (p.Asn300Ser)51741WWOXUncertain significance1860301714RCV001349117; NMONDO:MONDO:0010632,MedGen:C3463992,OMIM:308350; MONDO:MONDO:0013687,MedGen:C3280452,OMIM:614322, Orphanet:28428216784664927846649278466492-
NM_016373.4(WWOX):c.903C>G (p.Ile301Met)51741WWOXUncertain significance758799029RCV001898655; NMONDO:MONDO:0010632,MedGen:C3463992,OMIM:308350; MONDO:MONDO:0013687,MedGen:C3280452,OMIM:614322, Orphanet:28428216784664967846649678466496-
NM_016373.4(WWOX):c.903C>T (p.Ile301=)51741WWOXLikely benign-1RCV002636785; NMONDO:MONDO:0013687,MedGen:C3280452,OMIM:614322, Orphanet:284282; MONDO:MONDO:0010632,MedGen:C3463992,OMIM:308350167846649678466496-
NM_016373.4(WWOX):c.904C>T (p.Leu302Phe)51741WWOXUncertain significance757597956RCV001048019; NMONDO:MONDO:0010632,MedGen:C3463992,OMIM:308350; MONDO:MONDO:0013687,MedGen:C3280452,OMIM:614322, Orphanet:28428216784664977846649716:g.78466497C>T-
NM_016373.4(WWOX):c.906C>T (p.Leu302=)51741WWOXLikely benign377404672RCV002179323; NMONDO:MONDO:0010632,MedGen:C3463992,OMIM:308350; MONDO:MONDO:0013687,MedGen:C3280452,OMIM:614322, Orphanet:28428216784664997846649978466499-
NM_016373.4(WWOX):c.909C>T (p.Phe303=)51741WWOXLikely benign-1RCV003030699; NMONDO:MONDO:0013687,MedGen:C3280452,OMIM:614322, Orphanet:284282; MONDO:MONDO:0010632,MedGen:C3463992,OMIM:308350167846650278466502-
NM_016373.4(WWOX):c.912C>T (p.Ser304=)51741WWOXLikely benign745464578RCV002202662; NMONDO:MONDO:0010632,MedGen:C3463992,OMIM:308350; MONDO:MONDO:0013687,MedGen:C3280452,OMIM:614322, Orphanet:28428216784665057846650578466505-
NM_016373.4(WWOX):c.914A>G (p.Asn305Ser)51741WWOXUncertain significance1224888299RCV002004848; NMONDO:MONDO:0010632,MedGen:C3463992,OMIM:308350; MONDO:MONDO:0013687,MedGen:C3280452,OMIM:614322, Orphanet:28428216784665077846650778466507-
NM_016373.4(WWOX):c.915C>A (p.Asn305Lys)51741WWOXUncertain significance201818301RCV001368529; NMONDO:MONDO:0013687,MedGen:C3280452,OMIM:614322, Orphanet:284282; MONDO:MONDO:0010632,MedGen:C3463992,OMIM:30835016784665087846650878466508-
NM_016373.4(WWOX):c.915C>T (p.Asn305=)51741WWOXLikely benign201818301RCV001498771; NMONDO:MONDO:0010632,MedGen:C3463992,OMIM:308350; MONDO:MONDO:0013687,MedGen:C3280452,OMIM:614322, Orphanet:28428216784665087846650878466508-
NM_016373.4(WWOX):c.916G>A (p.Glu306Lys)51741WWOXUncertain significance1326472012RCV001344756; NMONDO:MONDO:0013687,MedGen:C3280452,OMIM:614322, Orphanet:284282; MONDO:MONDO:0010632,MedGen:C3463992,OMIM:30835016784665097846650978466509-
NM_016373.4(WWOX):c.918del (p.Glu306fs)51741WWOXPathogenic/Likely pathogenic1057518795RCV000415161|RCV001198240|RCV001861445; NHuman Phenotype Ontology:HP:0200134,MedGen:C0543888|MONDO:MONDO:0014533,MedGen:C4015519,OMIM:616211, Orphanet:442835|MONDO:MONDO:0010632,MedGen:C3463992,OMIM:308350; MONDO:MONDO:0013687,MedGen:C3280452,OMIM:614322, Orphanet:284282167846651178466511NC_000016.9:g.78466511delClinGen:CA16043515C0543888 Epileptic encephalopathy;
NM_016373.4(WWOX):c.918G>A (p.Glu306=)51741WWOXLikely benign2151386096RCV001441453; NMONDO:MONDO:0010632,MedGen:C3463992,OMIM:308350; MONDO:MONDO:0013687,MedGen:C3280452,OMIM:614322, Orphanet:28428216784665117846651178466511-
NM_016373.4(WWOX):c.919C>G (p.Leu307Val)51741WWOXUncertain significance200320711RCV001227667|RCV001819926; NMONDO:MONDO:0013687,MedGen:C3280452,OMIM:614322, Orphanet:284282; MONDO:MONDO:0010632,MedGen:C3463992,OMIM:308350|MedGen:CN16937416784665127846651216:g.78466512C>G-
NM_016373.4(WWOX):c.919C>T (p.Leu307=)51741WWOXLikely benign200320711RCV002076547; NMONDO:MONDO:0010632,MedGen:C3463992,OMIM:308350; MONDO:MONDO:0013687,MedGen:C3280452,OMIM:614322, Orphanet:28428216784665127846651278466512-
NM_016373.4(WWOX):c.921G>T (p.Leu307=)51741WWOXLikely benign-1RCV002628684; NMONDO:MONDO:0013687,MedGen:C3280452,OMIM:614322, Orphanet:284282; MONDO:MONDO:0010632,MedGen:C3463992,OMIM:308350167846651478466514-
NM_016373.4(WWOX):c.923A>G (p.His308Arg)51741WWOXUncertain significance2151386107RCV002031926; NMONDO:MONDO:0013687,MedGen:C3280452,OMIM:614322, Orphanet:284282; MONDO:MONDO:0010632,MedGen:C3463992,OMIM:30835016784665167846651678466516-
NM_016373.4(WWOX):c.924C>G (p.His308Gln)51741WWOXUncertain significance774296956RCV001900967; NMONDO:MONDO:0010632,MedGen:C3463992,OMIM:308350; MONDO:MONDO:0013687,MedGen:C3280452,OMIM:614322, Orphanet:28428216784665177846651778466517-
NM_016373.4(WWOX):c.925C>T (p.Arg309Cys)51741WWOXUncertain significance761545702RCV000650202; NMONDO:MONDO:0013687,MedGen:C3280452,OMIM:614322, Orphanet:284282; MONDO:MONDO:0010632,MedGen:C3463992,OMIM:308350167846651878466518NC_000016.9:g.78466518C>TClinGen:CA8183554C3463992 308350 Epileptic encephalopathy, early infantile, 1;
NM_016373.4(WWOX):c.926G>A (p.Arg309His)51741WWOXUncertain significance370792938RCV001753330|RCV001885096|RCV002489818; NMedGen:C3661900|MONDO:MONDO:0013687,MedGen:C3280452,OMIM:614322, Orphanet:284282; MONDO:MONDO:0010632,MedGen:C3463992,OMIM:308350|MONDO:MONDO:0007576,MedGen:C0546837,OMIM:133239, Orphanet:99977; MONDO:MONDO:0014533,MedGen:C4015519,OMIM:616211, Orphanet:4428316784665197846651978466519-
NM_016373.4(WWOX):c.928C>T (p.Arg310Cys)51741WWOXUncertain significance193001955RCV000811407|RCV001507348; NMONDO:MONDO:0010632,MedGen:C3463992,OMIM:308350; MONDO:MONDO:0013687,MedGen:C3280452,OMIM:614322, Orphanet:284282|MedGen:C366190016784665217846652116:g.78466521C>T-
NM_016373.4(WWOX):c.931C>T (p.Leu311Phe)51741WWOXUncertain significance1455737775RCV001059761; NMONDO:MONDO:0010632,MedGen:C3463992,OMIM:308350; MONDO:MONDO:0013687,MedGen:C3280452,OMIM:614322, Orphanet:28428216784665247846652416:g.78466524C>T-
NM_016373.4(WWOX):c.933C>G (p.Leu311=)51741WWOXLikely benign757508300RCV000602180|RCV001506586; NMedGen:CN169374|MONDO:MONDO:0010632,MedGen:C3463992,OMIM:308350; MONDO:MONDO:0013687,MedGen:C3280452,OMIM:614322, Orphanet:28428216784665267846652616:g.78466526C>GClinGen:CA8183559CN169374 not specified;
NM_016373.4(WWOX):c.935C>T (p.Ser312Phe)51741WWOXUncertain significance79399971RCV000503831|RCV001051189|RCV001576612; NMedGen:CN169374|MONDO:MONDO:0010632,MedGen:C3463992,OMIM:308350; MONDO:MONDO:0013687,MedGen:C3280452,OMIM:614322, Orphanet:284282|MedGen:CN517202167846652878466528NC_000016.9:g.78466528C>TClinGen:CA8183560CN169374 not specified;
NM_016373.4(WWOX):c.935C>A (p.Ser312Tyr)51741WWOXUncertain significance79399971RCV000700896|RCV000764079|RCV001775974; NMONDO:MONDO:0010632,MedGen:C3463992,OMIM:308350; MONDO:MONDO:0013687,MedGen:C3280452,OMIM:614322, Orphanet:284282|MONDO:MONDO:0013687,MedGen:C3280452,OMIM:614322, Orphanet:284282; MONDO:MONDO:0014533,MedGen:C4015519,OMIM:616211, Orphanet:442835; MONDO:MONDO:016784665287846652816:g.78466528C>A-C3463992 308350 Epileptic encephalopathy, early infantile, 1;
NM_016373.4(WWOX):c.936C>T (p.Ser312=)51741WWOXLikely benign2151386149RCV002201591; NMONDO:MONDO:0010632,MedGen:C3463992,OMIM:308350; MONDO:MONDO:0013687,MedGen:C3280452,OMIM:614322, Orphanet:28428216784665297846652978466529-
NM_016373.4(WWOX):c.937C>G (p.Pro313Ala)51741WWOXUncertain significance370345936RCV000457359; NMONDO:MONDO:0013687,MedGen:C3280452,OMIM:614322, Orphanet:284282; MONDO:MONDO:0010632,MedGen:C3463992,OMIM:308350167846653078466530NC_000016.9:g.78466530C>GClinGen:CA8183562C3463992 308350 Epileptic encephalopathy, early infantile, 1;
NM_016373.4(WWOX):c.938C>G (p.Pro313Arg)51741WWOXUncertain significance-1RCV003001966; NMONDO:MONDO:0013687,MedGen:C3280452,OMIM:614322, Orphanet:284282; MONDO:MONDO:0010632,MedGen:C3463992,OMIM:308350167846653178466531NC_000016.9:g.78466531C>G-
NM_016373.4(WWOX):c.940C>T (p.Arg314Cys)51741WWOXUncertain significance781683643RCV001226929|RCV003142188; NMONDO:MONDO:0013687,MedGen:C3280452,OMIM:614322, Orphanet:284282; MONDO:MONDO:0010632,MedGen:C3463992,OMIM:308350|MedGen:CN51720216784665337846653316:g.78466533C>T-
NM_016373.4(WWOX):c.941G>A (p.Arg314His)51741WWOXBenign73572838RCV000242986|RCV000714217|RCV001082703|RCV002244655|RCV002244654; NMedGen:CN169374|MedGen:C3661900|MONDO:MONDO:0010632,MedGen:C3463992,OMIM:308350; MONDO:MONDO:0013687,MedGen:C3280452,OMIM:614322, Orphanet:284282|MONDO:MONDO:0014533,MedGen:C4015519,OMIM:616211, Orphanet:442835|MONDO:MONDO:0013687,MedGen:C3280452,OMIM:614316784665347846653416:g.78466534G>AClinGen:CA8183566,UniProtKB:Q9NZC7#VAR_023923C3463992 308350 Epileptic encephalopathy, early infantile, 1;
NM_016373.4(WWOX):c.941G>C (p.Arg314Pro)51741WWOXUncertain significance73572838RCV001881406; NMONDO:MONDO:0013687,MedGen:C3280452,OMIM:614322, Orphanet:284282; MONDO:MONDO:0010632,MedGen:C3463992,OMIM:30835016784665347846653478466534-
NM_016373.4(WWOX):c.942C>T (p.Arg314=)51741WWOXLikely benign568012503RCV000842487|RCV001407772; NMedGen:C3661900|MONDO:MONDO:0013687,MedGen:C3280452,OMIM:614322, Orphanet:284282; MONDO:MONDO:0010632,MedGen:C3463992,OMIM:30835016784665357846653516:g.78466535C>T-
NM_016373.4(WWOX):c.942C>G (p.Arg314=)51741WWOXLikely benign-1RCV003025685; NMONDO:MONDO:0013687,MedGen:C3280452,OMIM:614322, Orphanet:284282; MONDO:MONDO:0010632,MedGen:C3463992,OMIM:308350167846653578466535-
NM_016373.4(WWOX):c.943G>A (p.Gly315Arg)51741WWOXUncertain significance768172617RCV000474451; NMONDO:MONDO:0013687,MedGen:C3280452,OMIM:614322, Orphanet:284282; MONDO:MONDO:0010632,MedGen:C3463992,OMIM:308350167846653678466536NC_000016.9:g.78466536G>AClinGen:CA8183570C3463992 308350 Epileptic encephalopathy, early infantile, 1;
NM_016373.4(WWOX):c.943G>C (p.Gly315Arg)51741WWOXUncertain significance768172617RCV000808289; NMONDO:MONDO:0010632,MedGen:C3463992,OMIM:308350; MONDO:MONDO:0013687,MedGen:C3280452,OMIM:614322, Orphanet:28428216784665367846653616:g.78466536G>C-
NM_016373.4(WWOX):c.943G>T (p.Gly315Trp)51741WWOXUncertain significance768172617RCV001308317; NMONDO:MONDO:0010632,MedGen:C3463992,OMIM:308350; MONDO:MONDO:0013687,MedGen:C3280452,OMIM:614322, Orphanet:28428216784665367846653678466536-
NM_016373.4(WWOX):c.945G>T (p.Gly315=)51741WWOXLikely benign1232491002RCV001500674; NMONDO:MONDO:0010632,MedGen:C3463992,OMIM:308350; MONDO:MONDO:0013687,MedGen:C3280452,OMIM:614322, Orphanet:28428216784665387846653878466538-
NM_016373.4(WWOX):c.945G>A (p.Gly315=)51741WWOXLikely benign1232491002RCV002150157; NMONDO:MONDO:0013687,MedGen:C3280452,OMIM:614322, Orphanet:284282; MONDO:MONDO:0010632,MedGen:C3463992,OMIM:30835016784665387846653878466538-
NM_016373.4(WWOX):c.946G>C (p.Val316Leu)51741WWOXUncertain significance201941494RCV000556594|RCV003389815; NMONDO:MONDO:0013687,MedGen:C3280452,OMIM:614322, Orphanet:284282; MONDO:MONDO:0010632,MedGen:C3463992,OMIM:308350|MONDO:MONDO:0014533,MedGen:C4015519,OMIM:616211, Orphanet:44283516784665397846653916:g.78466539G>CClinGen:CA8183571C3463992 308350 Epileptic encephalopathy, early infantile, 1;
NM_016373.4(WWOX):c.947T>C (p.Val316Ala)51741WWOXUncertain significance1476364680RCV001917091; NMONDO:MONDO:0013687,MedGen:C3280452,OMIM:614322, Orphanet:284282; MONDO:MONDO:0010632,MedGen:C3463992,OMIM:30835016784665407846654078466540-
NM_016373.4(WWOX):c.948C>G (p.Val316=)51741WWOXLikely benign201986739RCV000472567|RCV001821363; NMONDO:MONDO:0010632,MedGen:C3463992,OMIM:308350; MONDO:MONDO:0013687,MedGen:C3280452,OMIM:614322, Orphanet:284282|MedGen:CN169374167846654178466541NC_000016.9:g.78466541C>GClinGen:CA16615003C3463992 308350 Epileptic encephalopathy, early infantile, 1;
NM_016373.4(WWOX):c.951G>A (p.Thr317=)51741WWOXLikely benign759801417RCV001476343|RCV001698179; NMONDO:MONDO:0010632,MedGen:C3463992,OMIM:308350; MONDO:MONDO:0013687,MedGen:C3280452,OMIM:614322, Orphanet:284282|MedGen:C366190016784665447846654416:g.78466544G>AClinGen:CA8183574CN169374 not specified;
NM_016373.4(WWOX):c.953C>T (p.Ser318Leu)51741WWOXConflicting interpretations of pathogenicity770023814RCV000696482|RCV001809762|RCV001567822; NMONDO:MONDO:0010632,MedGen:C3463992,OMIM:308350; MONDO:MONDO:0013687,MedGen:C3280452,OMIM:614322, Orphanet:284282|MONDO:MONDO:0014533,MedGen:C4015519,OMIM:616211, Orphanet:442835|MedGen:CN51720216784665467846654616:g.78466546C>T-C3463992 308350 Epileptic encephalopathy, early infantile, 1;
NM_016373.4(WWOX):c.957C>T (p.Asn319=)51741WWOXLikely benign144417100RCV000456291|RCV001703626; NMONDO:MONDO:0013687,MedGen:C3280452,OMIM:614322, Orphanet:284282; MONDO:MONDO:0010632,MedGen:C3463992,OMIM:308350|MedGen:C366190016784665507846655016:g.78466550C>TClinGen:CA8183577C3463992 308350 Epileptic encephalopathy, early infantile, 1;
NM_016373.4(WWOX):c.958G>A (p.Ala320Thr)51741WWOXUncertain significance368670215RCV000470287|RCV001753897|RCV002523320; NMONDO:MONDO:0013687,MedGen:C3280452,OMIM:614322, Orphanet:284282; MONDO:MONDO:0010632,MedGen:C3463992,OMIM:308350|MedGen:CN517202|MeSH:D030342,MedGen:C0950123167846655178466551NC_000016.9:g.78466551G>AClinGen:CA8183578C3463992 308350 Epileptic encephalopathy, early infantile, 1;
NM_016373.4(WWOX):c.961G>C (p.Val321Leu)51741WWOXUncertain significance2081146962RCV001966104; NMONDO:MONDO:0013687,MedGen:C3280452,OMIM:614322, Orphanet:284282; MONDO:MONDO:0010632,MedGen:C3463992,OMIM:30835016784665547846655478466554-
NM_016373.4(WWOX):c.962T>C (p.Val321Ala)51741WWOXUncertain significance774783221RCV001889789; NMONDO:MONDO:0010632,MedGen:C3463992,OMIM:308350; MONDO:MONDO:0013687,MedGen:C3280452,OMIM:614322, Orphanet:28428216784665557846655578466555-
NM_016373.4(WWOX):c.963G>A (p.Val321=)51741WWOXLikely benign-1RCV003060490; NMONDO:MONDO:0013687,MedGen:C3280452,OMIM:614322, Orphanet:284282; MONDO:MONDO:0010632,MedGen:C3463992,OMIM:308350167846655678466556-
NM_016373.4(WWOX):c.965A>G (p.His322Arg)51741WWOXUncertain significance878855022RCV000232247|RCV001775702; NMONDO:MONDO:0013687,MedGen:C3280452,OMIM:614322, Orphanet:284282; MONDO:MONDO:0010632,MedGen:C3463992,OMIM:308350|MedGen:CN51720216784665587846655816:g.78466558A>GClinGen:CA10583431C3463992 308350 Epileptic encephalopathy, early infantile, 1;
NM_016373.4(WWOX):c.966T>A (p.His322Gln)51741WWOXUncertain significance750797952RCV001300574; NMONDO:MONDO:0010632,MedGen:C3463992,OMIM:308350; MONDO:MONDO:0013687,MedGen:C3280452,OMIM:614322, Orphanet:28428216784665597846655978466559-
NM_016373.4(WWOX):c.968C>G (p.Pro323Arg)51741WWOXUncertain significance1567570468RCV000714218|RCV001868334; NMedGen:CN517202|MONDO:MONDO:0010632,MedGen:C3463992,OMIM:308350; MONDO:MONDO:0013687,MedGen:C3280452,OMIM:614322, Orphanet:284282167846656178466561NC_000016.9:g.78466561C>G-
NM_016373.4(WWOX):c.971G>A (p.Gly324Glu)51741WWOXUncertain significance766163069RCV002039525; NMONDO:MONDO:0010632,MedGen:C3463992,OMIM:308350; MONDO:MONDO:0013687,MedGen:C3280452,OMIM:614322, Orphanet:28428216784665647846656478466564-
NM_016373.4(WWOX):c.972A>C (p.Gly324=)51741WWOXLikely benign-1RCV002581954; NMONDO:MONDO:0013687,MedGen:C3280452,OMIM:614322, Orphanet:284282; MONDO:MONDO:0010632,MedGen:C3463992,OMIM:308350167846656578466565-
NM_016373.4(WWOX):c.977T>C (p.Met326Thr)51741WWOXUncertain significance371996496RCV000813690; NMONDO:MONDO:0010632,MedGen:C3463992,OMIM:308350; MONDO:MONDO:0013687,MedGen:C3280452,OMIM:614322, Orphanet:28428216784665707846657016:g.78466570T>C-
NM_016373.4(WWOX):c.978G>C (p.Met326Ile)51741WWOXUncertain significance748074874RCV000650205|RCV001766407; NMONDO:MONDO:0013687,MedGen:C3280452,OMIM:614322, Orphanet:284282; MONDO:MONDO:0010632,MedGen:C3463992,OMIM:308350|MedGen:CN51720216784665717846657116:g.78466571G>CClinGen:CA8183588C3463992 308350 Epileptic encephalopathy, early infantile, 1;
NM_016373.4(WWOX):c.978G>T (p.Met326Ile)51741WWOXUncertain significance748074874RCV001907382; NMONDO:MONDO:0013687,MedGen:C3280452,OMIM:614322, Orphanet:284282; MONDO:MONDO:0010632,MedGen:C3463992,OMIM:30835016784665717846657178466571-
NM_016373.4(WWOX):c.980T>G (p.Met327Arg)51741WWOXUncertain significance1567570484RCV002031526; NMONDO:MONDO:0013687,MedGen:C3280452,OMIM:614322, Orphanet:284282; MONDO:MONDO:0010632,MedGen:C3463992,OMIM:30835016784665737846657378466573-
NM_016373.4(WWOX):c.980T>C (p.Met327Thr)51741WWOXUncertain significance1567570484RCV002027463; NMONDO:MONDO:0010632,MedGen:C3463992,OMIM:308350; MONDO:MONDO:0013687,MedGen:C3280452,OMIM:614322, Orphanet:28428216784665737846657378466573-
NM_016373.4(WWOX):c.981G>A (p.Met327Ile)51741WWOXUncertain significance758307666RCV000996346|RCV001858834; NMedGen:C3661900|MONDO:MONDO:0013687,MedGen:C3280452,OMIM:614322, Orphanet:284282; MONDO:MONDO:0010632,MedGen:C3463992,OMIM:30835016784665747846657416:g.78466574G>A-
NM_016373.4(WWOX):c.989A>G (p.Asn330Ser)51741WWOXUncertain significance746833923RCV001225932|RCV001330930; NMONDO:MONDO:0013687,MedGen:C3280452,OMIM:614322, Orphanet:284282; MONDO:MONDO:0010632,MedGen:C3463992,OMIM:308350|MONDO:MONDO:0014533,MedGen:C4015519,OMIM:616211, Orphanet:44283516784665827846658216:g.78466582A>G-
NM_016373.4(WWOX):c.990C>G (p.Asn330Lys)51741WWOXUncertain significance117209694RCV000650196|RCV000656055|RCV000764080|RCV003227772; NMONDO:MONDO:0010632,MedGen:C3463992,OMIM:308350; MONDO:MONDO:0013687,MedGen:C3280452,OMIM:614322, Orphanet:284282|MONDO:MONDO:0007295,MedGen:C0376532, Orphanet:1945|MONDO:MONDO:0014533,MedGen:C4015519,OMIM:616211, Orphanet:442835; MONDO:MONDO:0007576,MedGen:16784665837846658316:g.78466583C>GClinGen:CA8183593C3463992 308350 Epileptic encephalopathy, early infantile, 1;
NM_016373.4(WWOX):c.990C>T (p.Asn330=)51741WWOXLikely benign117209694RCV000530373; NMONDO:MONDO:0013687,MedGen:C3280452,OMIM:614322, Orphanet:284282; MONDO:MONDO:0010632,MedGen:C3463992,OMIM:308350167846658378466583NC_000016.9:g.78466583C>TClinGen:CA284547495C3463992 308350 Epileptic encephalopathy, early infantile, 1;
NM_016373.4(WWOX):c.993T>G (p.Ile331Met)51741WWOXUncertain significance-1RCV002846323; NMONDO:MONDO:0013687,MedGen:C3280452,OMIM:614322, Orphanet:284282; MONDO:MONDO:0010632,MedGen:C3463992,OMIM:308350167846658678466586NC_000016.9:g.78466586T>G-
NM_016373.4(WWOX):c.994C>T (p.His332Tyr)51741WWOXUncertain significance923399366RCV000545128; NMONDO:MONDO:0013687,MedGen:C3280452,OMIM:614322, Orphanet:284282; MONDO:MONDO:0010632,MedGen:C3463992,OMIM:30835016784665877846658716:g.78466587C>TClinGen:CA396843417C3463992 308350 Epileptic encephalopathy, early infantile, 1;
NM_016373.4(WWOX):c.994C>G (p.His332Asp)51741WWOXUncertain significance-1RCV003050162; NMONDO:MONDO:0013687,MedGen:C3280452,OMIM:614322, Orphanet:284282; MONDO:MONDO:0010632,MedGen:C3463992,OMIM:308350167846658778466587NC_000016.9:g.78466587C>G-
NM_016373.4(WWOX):c.995A>C (p.His332Pro)51741WWOXUncertain significance775584864RCV000461317|RCV001335819; NMONDO:MONDO:0013687,MedGen:C3280452,OMIM:614322, Orphanet:284282; MONDO:MONDO:0010632,MedGen:C3463992,OMIM:308350|MONDO:MONDO:0014533,MedGen:C4015519,OMIM:616211, Orphanet:442835167846658878466588NC_000016.9:g.78466588A>CClinGen:CA8183594C3463992 308350 Epileptic encephalopathy, early infantile, 1;
NM_016373.4(WWOX):c.997C>T (p.Arg333Cys)51741WWOXUncertain significance369281766RCV001544657|RCV002032548; NMedGen:C3661900|MONDO:MONDO:0013687,MedGen:C3280452,OMIM:614322, Orphanet:284282; MONDO:MONDO:0010632,MedGen:C3463992,OMIM:30835016784665907846659078466590-
NM_016373.4(WWOX):c.998G>A (p.Arg333His)51741WWOXUncertain significance184773837RCV000685722|RCV001584553; NMONDO:MONDO:0013687,MedGen:C3280452,OMIM:614322, Orphanet:284282; MONDO:MONDO:0010632,MedGen:C3463992,OMIM:308350|MedGen:C3661900167846659178466591NC_000016.9:g.78466591G>A-C3463992 308350 Epileptic encephalopathy, early infantile, 1;
NM_016373.4(WWOX):c.999C>T (p.Arg333=)51741WWOXLikely benign774462234RCV001498970; NMONDO:MONDO:0010632,MedGen:C3463992,OMIM:308350; MONDO:MONDO:0013687,MedGen:C3280452,OMIM:614322, Orphanet:28428216784665927846659278466592-
NM_016373.4(WWOX):c.1003T>A (p.Trp335Arg)51741WWOXUncertain significance-1RCV002923534; NMONDO:MONDO:0013687,MedGen:C3280452,OMIM:614322, Orphanet:284282; MONDO:MONDO:0010632,MedGen:C3463992,OMIM:308350167846659678466596NC_000016.9:g.78466596T>A-
NM_016373.4(WWOX):c.1010T>C (p.Val337Ala)51741WWOXUncertain significance1170717426RCV001203951; NMONDO:MONDO:0013687,MedGen:C3280452,OMIM:614322, Orphanet:284282; MONDO:MONDO:0010632,MedGen:C3463992,OMIM:30835016784666037846660316:g.78466603T>C-
NM_016373.4(WWOX):c.1011G>C (p.Val337=)51741WWOXLikely benign773816992RCV001440887; NMONDO:MONDO:0013687,MedGen:C3280452,OMIM:614322, Orphanet:284282; MONDO:MONDO:0010632,MedGen:C3463992,OMIM:30835016784666047846660416:g.78466604G>C-
NM_016373.4(WWOX):c.1015A>C (p.Thr339Pro)51741WWOXUncertain significance1429449710RCV001970719; NMONDO:MONDO:0010632,MedGen:C3463992,OMIM:308350; MONDO:MONDO:0013687,MedGen:C3280452,OMIM:614322, Orphanet:28428216784666087846660878466608-
NM_016373.4(WWOX):c.1016C>T (p.Thr339Ile)51741WWOXUncertain significance-1RCV002614691; NMONDO:MONDO:0013687,MedGen:C3280452,OMIM:614322, Orphanet:284282; MONDO:MONDO:0010632,MedGen:C3463992,OMIM:308350167846660978466609NC_000016.9:g.78466609C>T-
NM_016373.4(WWOX):c.1021C>A (p.Leu341Met)51741WWOXLikely benign201616456RCV000687652|RCV001552405; NMONDO:MONDO:0013687,MedGen:C3280452,OMIM:614322, Orphanet:284282; MONDO:MONDO:0010632,MedGen:C3463992,OMIM:308350|MedGen:CN51720216784666147846661416:g.78466614C>A-C3463992 308350 Epileptic encephalopathy, early infantile, 1;
NM_016373.4(WWOX):c.1021C>T (p.Leu341=)51741WWOXLikely benign201616456RCV001397180; NMONDO:MONDO:0010632,MedGen:C3463992,OMIM:308350; MONDO:MONDO:0013687,MedGen:C3280452,OMIM:614322, Orphanet:28428216784666147846661416:g.78466614C>T-
NM_016373.4(WWOX):c.1029C>G (p.Thr343=)51741WWOXLikely benign752273047RCV000417821|RCV000650192; NMedGen:CN169374|MONDO:MONDO:0013687,MedGen:C3280452,OMIM:614322, Orphanet:284282; MONDO:MONDO:0010632,MedGen:C3463992,OMIM:30835016784666227846662216:g.78466622C>GClinGen:CA8183606C3463992 308350 Epileptic encephalopathy, early infantile, 1;
NM_016373.4(WWOX):c.1035G>A (p.Ala345=)51741WWOXLikely benign189695070RCV000420179|RCV000538336; NMedGen:C3661900|MONDO:MONDO:0010632,MedGen:C3463992,OMIM:308350; MONDO:MONDO:0013687,MedGen:C3280452,OMIM:614322, Orphanet:28428216784666287846662816:g.78466628G>AClinGen:CA8183609C3463992 308350 Epileptic encephalopathy, early infantile, 1;
NM_016373.4(WWOX):c.1035del (p.Arg346fs)51741WWOXPathogenic-1RCV002853268; NMONDO:MONDO:0013687,MedGen:C3280452,OMIM:614322, Orphanet:284282; MONDO:MONDO:0010632,MedGen:C3463992,OMIM:308350167846662878466628NC_000016.9:g.78466628del-
NM_016373.4(WWOX):c.1038G>T (p.Arg346Ser)51741WWOXUncertain significance781040616RCV000823052; NMONDO:MONDO:0013687,MedGen:C3280452,OMIM:614322, Orphanet:284282; MONDO:MONDO:0010632,MedGen:C3463992,OMIM:30835016784666317846663116:g.78466631G>T-
NM_016373.4(WWOX):c.1039C>A (p.Pro347Thr)51741WWOXUncertain significance200699154RCV000690150|RCV000764081|RCV001542414; NMONDO:MONDO:0013687,MedGen:C3280452,OMIM:614322, Orphanet:284282; MONDO:MONDO:0010632,MedGen:C3463992,OMIM:308350|MONDO:MONDO:0013687,MedGen:C3280452,OMIM:614322, Orphanet:284282; MONDO:MONDO:0014533,MedGen:C4015519,OMIM:616211, Orphanet:442835; MONDO:MONDO:0167846663278466632NC_000016.9:g.78466632C>A-C3463992 308350 Epileptic encephalopathy, early infantile, 1;
NM_016373.4(WWOX):c.1039C>G (p.Pro347Ala)51741WWOXUncertain significance200699154RCV000791853; NMONDO:MONDO:0010632,MedGen:C3463992,OMIM:308350; MONDO:MONDO:0013687,MedGen:C3280452,OMIM:614322, Orphanet:28428216784666327846663216:g.78466632C>G-
NM_016373.4(WWOX):c.1043del (p.Phe348fs)51741WWOXPathogenic/Likely pathogenic1064795117RCV000484968|RCV001381454; NMedGen:CN517202|MONDO:MONDO:0010632,MedGen:C3463992,OMIM:308350; MONDO:MONDO:0013687,MedGen:C3280452,OMIM:614322, Orphanet:284282167846663478466634NC_000016.9:g.78466636delClinGen:CA16620274
NM_016373.4(WWOX):c.1042T>G (p.Phe348Val)51741WWOXUncertain significance768904294RCV001346955; NMONDO:MONDO:0010632,MedGen:C3463992,OMIM:308350; MONDO:MONDO:0013687,MedGen:C3280452,OMIM:614322, Orphanet:28428216784666357846663578466635-
NM_016373.4(WWOX):c.1047C>A (p.Thr349=)51741WWOXLikely benign940453353RCV001493016; NMONDO:MONDO:0010632,MedGen:C3463992,OMIM:308350; MONDO:MONDO:0013687,MedGen:C3280452,OMIM:614322, Orphanet:28428216784666407846664078466640-
NM_016373.4(WWOX):c.1048A>G (p.Lys350Glu)51741WWOXUncertain significance2151386361RCV001967375; NMONDO:MONDO:0010632,MedGen:C3463992,OMIM:308350; MONDO:MONDO:0013687,MedGen:C3280452,OMIM:614322, Orphanet:28428216784666417846664178466641-
NM_016373.4(WWOX):c.1050G>A (p.Lys350=)51741WWOXLikely benign2151386362RCV002170950; NMONDO:MONDO:0013687,MedGen:C3280452,OMIM:614322, Orphanet:284282; MONDO:MONDO:0010632,MedGen:C3463992,OMIM:30835016784666437846664378466643-
NM_016373.4(WWOX):c.1051T>C (p.Ser351Pro)51741WWOXUncertain significance1266850996RCV001049109; NMONDO:MONDO:0010632,MedGen:C3463992,OMIM:308350; MONDO:MONDO:0013687,MedGen:C3280452,OMIM:614322, Orphanet:28428216784666447846664416:g.78466644T>C-
NM_016373.4(WWOX):c.1052C>T (p.Ser351Phe)51741WWOXUncertain significance-1RCV003031325; NMONDO:MONDO:0013687,MedGen:C3280452,OMIM:614322, Orphanet:284282; MONDO:MONDO:0010632,MedGen:C3463992,OMIM:308350167846664578466645NC_000016.9:g.78466645C>T-
NM_016373.4(WWOX):c.1054A>G (p.Met352Val)51741WWOXUncertain significance575317950RCV001324729; NMONDO:MONDO:0010632,MedGen:C3463992,OMIM:308350; MONDO:MONDO:0013687,MedGen:C3280452,OMIM:614322, Orphanet:28428216784666477846664778466647-
NM_016373.4(WWOX):c.1055T>C (p.Met352Thr)51741WWOXUncertain significance-1RCV003118006; NMONDO:MONDO:0010632,MedGen:C3463992,OMIM:308350; MONDO:MONDO:0013687,MedGen:C3280452,OMIM:614322, Orphanet:284282167846664878466648NC_000016.9:g.78466648T>C-
NM_016373.4(WWOX):c.1056+13C>A51741WWOXLikely benign-1RCV002839493; NMONDO:MONDO:0013687,MedGen:C3280452,OMIM:614322, Orphanet:284282; MONDO:MONDO:0010632,MedGen:C3463992,OMIM:308350167846666278466662NC_000016.9:g.78466662C>A-
NM_016373.4(WWOX):c.1056+18G>A51741WWOXLikely benign-1RCV002736352; NMONDO:MONDO:0013687,MedGen:C3280452,OMIM:614322, Orphanet:284282; MONDO:MONDO:0010632,MedGen:C3463992,OMIM:308350167846666778466667NC_000016.9:g.78466667G>A-
NM_016373.4(WWOX):c.1056+20C>T51741WWOXLikely benign-1RCV003084175; NMONDO:MONDO:0013687,MedGen:C3280452,OMIM:614322, Orphanet:284282; MONDO:MONDO:0010632,MedGen:C3463992,OMIM:308350167846666978466669NC_000016.9:g.78466669C>T-
NM_016373.4(WWOX):c.1056+191744T>G51741WWOXBenign2548861RCV000650210|RCV001653971; NMONDO:MONDO:0013687,MedGen:C3280452,OMIM:614322, Orphanet:284282; MONDO:MONDO:0010632,MedGen:C3463992,OMIM:308350|MedGen:C366190016786583937865839316:g.78658393T>GClinGen:CA14307570C3463992 308350 Epileptic encephalopathy, early infantile, 1;
NM_016373.4(WWOX):c.1057-22_1057-19del51741WWOXLikely benign-1RCV002858482; NMONDO:MONDO:0013687,MedGen:C3280452,OMIM:614322, Orphanet:284282; MONDO:MONDO:0010632,MedGen:C3463992,OMIM:308350167924548279245485NC_000016.9:g.79245483_79245486del-
NM_016373.4(WWOX):c.1057-22_1057-20del51741WWOXLikely benign2150867224RCV002190817; NMONDO:MONDO:0010632,MedGen:C3463992,OMIM:308350; MONDO:MONDO:0013687,MedGen:C3280452,OMIM:614322, Orphanet:28428216792454837924548579245482-
NM_016373.4(WWOX):c.1057-17_1057-14del51741WWOXLikely benign750753794RCV002158833; NMONDO:MONDO:0010632,MedGen:C3463992,OMIM:308350; MONDO:MONDO:0013687,MedGen:C3280452,OMIM:614322, Orphanet:28428216792454847924548779245483-
NM_016373.4(WWOX):c.1057-18_1057-17dup51741WWOXLikely benign1412456452RCV000616759|RCV002064037; NMedGen:CN169374|MONDO:MONDO:0010632,MedGen:C3463992,OMIM:308350; MONDO:MONDO:0013687,MedGen:C3280452,OMIM:614322, Orphanet:284282167924548579245486NC_000016.9:g.79245487_79245488dupClinGen:CA624015071CN169374 not specified;
NC_000016.10:g.(?_79211588)_(79211816_?)del51741WWOXPathogenic-1RCV000814620; NMONDO:MONDO:0013687,MedGen:C3280452,OMIM:614322, Orphanet:284282; MONDO:MONDO:0010632,MedGen:C3463992,OMIM:308350167924548579245713-
NM_016373.4(WWOX):c.1057-20C>T51741WWOXLikely benign-1RCV003068086; NMONDO:MONDO:0013687,MedGen:C3280452,OMIM:614322, Orphanet:284282; MONDO:MONDO:0010632,MedGen:C3463992,OMIM:308350167924548579245485NC_000016.9:g.79245485C>T-
NM_016373.4(WWOX):c.1057-18T>G51741WWOXLikely benign780546419RCV002143952; NMONDO:MONDO:0010632,MedGen:C3463992,OMIM:308350; MONDO:MONDO:0013687,MedGen:C3280452,OMIM:614322, Orphanet:28428216792454877924548779245487-
NM_016373.4(WWOX):c.1057-14T>C51741WWOXBenign66481974RCV000247690|RCV001515358|RCV002244634|RCV002244635; NMedGen:CN169374|MONDO:MONDO:0010632,MedGen:C3463992,OMIM:308350; MONDO:MONDO:0013687,MedGen:C3280452,OMIM:614322, Orphanet:284282|MONDO:MONDO:0013687,MedGen:C3280452,OMIM:614322, Orphanet:284282|MONDO:MONDO:0014533,MedGen:C4015519,OMIM:616211, Orphanet:4428167924549179245491NC_000016.9:g.79245491T>CClinGen:CA8183715CN169374 not specified;
NM_016373.4(WWOX):c.1057-9_1057-6dup51741WWOXUncertain significance2150867300RCV001926804; NMONDO:MONDO:0010632,MedGen:C3463992,OMIM:308350; MONDO:MONDO:0013687,MedGen:C3280452,OMIM:614322, Orphanet:28428216792454957924549679245495-
NM_016373.4(WWOX):c.1057-10G>C51741WWOXLikely benign-1RCV002599735; NMONDO:MONDO:0013687,MedGen:C3280452,OMIM:614322, Orphanet:284282; MONDO:MONDO:0010632,MedGen:C3463992,OMIM:308350167924549579245495NC_000016.9:g.79245495G>C-
NM_016373.4(WWOX):c.1057-4C>T51741WWOXLikely benign555716977RCV001722663|RCV002063213; NMedGen:C3661900|MONDO:MONDO:0013687,MedGen:C3280452,OMIM:614322, Orphanet:284282; MONDO:MONDO:0010632,MedGen:C3463992,OMIM:30835016792455017924550116:g.79245501C>TClinGen:CA8183722CN169374 not specified;
NM_016373.4(WWOX):c.1057-3C>T51741WWOXUncertain significance143302415RCV000692946; NMONDO:MONDO:0013687,MedGen:C3280452,OMIM:614322, Orphanet:284282; MONDO:MONDO:0010632,MedGen:C3463992,OMIM:30835016792455027924550216:g.79245502C>T-C3463992 308350 Epileptic encephalopathy, early infantile, 1;
NM_016373.4(WWOX):c.1057-2A>G51741WWOXUncertain significance1233583078RCV001940463; NMONDO:MONDO:0013687,MedGen:C3280452,OMIM:614322, Orphanet:284282; MONDO:MONDO:0010632,MedGen:C3463992,OMIM:30835016792455037924550379245503-
NM_016373.4(WWOX):c.1057C>A (p.Gln353Lys)51741WWOXUncertain significance770155582RCV001295210; NMONDO:MONDO:0010632,MedGen:C3463992,OMIM:308350; MONDO:MONDO:0013687,MedGen:C3280452,OMIM:614322, Orphanet:28428216792455057924550579245505-
NM_016373.4(WWOX):c.1057C>T (p.Gln353Ter)51741WWOXPathogenic770155582RCV001895441; NMONDO:MONDO:0010632,MedGen:C3463992,OMIM:308350; MONDO:MONDO:0013687,MedGen:C3280452,OMIM:614322, Orphanet:28428216792455057924550579245505-
NM_016373.4(WWOX):c.1059A>C (p.Gln353His)51741WWOXUncertain significance-1RCV002866480; NMONDO:MONDO:0013687,MedGen:C3280452,OMIM:614322, Orphanet:284282; MONDO:MONDO:0010632,MedGen:C3463992,OMIM:308350167924550779245507NC_000016.9:g.79245507A>C-
NM_016373.4(WWOX):c.1063G>A (p.Gly355Arg)51741WWOXUncertain significance2051753978RCV001315818; NMONDO:MONDO:0013687,MedGen:C3280452,OMIM:614322, Orphanet:284282; MONDO:MONDO:0010632,MedGen:C3463992,OMIM:30835016792455117924551179245511-
NM_016373.4(WWOX):c.1066G>A (p.Ala356Thr)51741WWOXUncertain significance767667847RCV000429731|RCV000553103; NMedGen:CN517202|MONDO:MONDO:0013687,MedGen:C3280452,OMIM:614322, Orphanet:284282; MONDO:MONDO:0010632,MedGen:C3463992,OMIM:30835016792455147924551416:g.79245514G>AClinGen:CA8183728C3463992 308350 Epileptic encephalopathy, early infantile, 1;
NM_016373.4(WWOX):c.1067C>T (p.Ala356Val)51741WWOXUncertain significance-1RCV003028994; NMONDO:MONDO:0013687,MedGen:C3280452,OMIM:614322, Orphanet:284282; MONDO:MONDO:0010632,MedGen:C3463992,OMIM:308350167924551579245515NC_000016.9:g.79245515C>T-
NM_016373.4(WWOX):c.1069G>A (p.Ala357Thr)51741WWOXUncertain significance-1RCV002580597; NMONDO:MONDO:0013687,MedGen:C3280452,OMIM:614322, Orphanet:284282; MONDO:MONDO:0010632,MedGen:C3463992,OMIM:308350167924551779245517NC_000016.9:g.79245517G>A-
NM_016373.4(WWOX):c.1072A>C (p.Thr358Pro)51741WWOXUncertain significance1567624901RCV000706593; NMONDO:MONDO:0010632,MedGen:C3463992,OMIM:308350; MONDO:MONDO:0013687,MedGen:C3280452,OMIM:614322, Orphanet:28428216792455207924552016:g.79245520A>C-C3463992 308350 Epileptic encephalopathy, early infantile, 1;
NM_016373.4(WWOX):c.1073C>T (p.Thr358Ile)51741WWOXUncertain significance1555547940RCV000650201; NMONDO:MONDO:0013687,MedGen:C3280452,OMIM:614322, Orphanet:284282; MONDO:MONDO:0010632,MedGen:C3463992,OMIM:30835016792455217924552116:g.79245521C>TClinGen:CA396536963C3463992 308350 Epileptic encephalopathy, early infantile, 1;
NM_016373.4(WWOX):c.1073C>G (p.Thr358Ser)51741WWOXUncertain significance1555547940RCV001888825; NMONDO:MONDO:0013687,MedGen:C3280452,OMIM:614322, Orphanet:284282; MONDO:MONDO:0010632,MedGen:C3463992,OMIM:30835016792455217924552179245521-
NM_016373.4(WWOX):c.1077C>T (p.Thr359=)51741WWOXLikely benign150912992RCV000432443|RCV001457219; NMedGen:CN169374|MONDO:MONDO:0010632,MedGen:C3463992,OMIM:308350; MONDO:MONDO:0013687,MedGen:C3280452,OMIM:614322, Orphanet:28428216792455257924552516:g.79245525C>TClinGen:CA8183729CN169374 not specified;
NM_016373.4(WWOX):c.1077C>G (p.Thr359=)51741WWOXLikely benign150912992RCV002139062; NMONDO:MONDO:0010632,MedGen:C3463992,OMIM:308350; MONDO:MONDO:0013687,MedGen:C3280452,OMIM:614322, Orphanet:28428216792455257924552579245525-
NM_016373.4(WWOX):c.1078G>A (p.Val360Met)51741WWOXUncertain significance200019508RCV000650198|RCV003162977; NMONDO:MONDO:0013687,MedGen:C3280452,OMIM:614322, Orphanet:284282; MONDO:MONDO:0010632,MedGen:C3463992,OMIM:308350|MeSH:D030342,MedGen:C095012316792455267924552616:g.79245526G>AClinGen:CA8183730C3463992 308350 Epileptic encephalopathy, early infantile, 1;
NM_016373.4(WWOX):c.1084T>C (p.Cys362Arg)51741WWOXUncertain significance2051754918RCV001352381; NMONDO:MONDO:0010632,MedGen:C3463992,OMIM:308350; MONDO:MONDO:0013687,MedGen:C3280452,OMIM:614322, Orphanet:28428216792455327924553279245532-
NM_016373.4(WWOX):c.1085G>A (p.Cys362Tyr)51741WWOXConflicting interpretations of pathogenicity778218106RCV001351418|RCV001586144; NMONDO:MONDO:0010632,MedGen:C3463992,OMIM:308350; MONDO:MONDO:0013687,MedGen:C3280452,OMIM:614322, Orphanet:284282|MedGen:CN51720216792455337924553379245533-
NM_016373.4(WWOX):c.1086T>C (p.Cys362=)51741WWOXLikely benign755448649RCV001414125; NMONDO:MONDO:0010632,MedGen:C3463992,OMIM:308350; MONDO:MONDO:0013687,MedGen:C3280452,OMIM:614322, Orphanet:28428216792455347924553479245534-
NM_016373.4(WWOX):c.1088C>G (p.Ala363Gly)51741WWOXUncertain significance2051755192RCV001962703; NMONDO:MONDO:0013687,MedGen:C3280452,OMIM:614322, Orphanet:284282; MONDO:MONDO:0010632,MedGen:C3463992,OMIM:30835016792455367924553679245536-
NM_016373.4(WWOX):c.1102C>T (p.Leu368=)51741WWOXLikely benign-1RCV002923100; NMONDO:MONDO:0013687,MedGen:C3280452,OMIM:614322, Orphanet:284282; MONDO:MONDO:0010632,MedGen:C3463992,OMIM:308350167924555079245550-
NM_016373.4(WWOX):c.1103T>G (p.Leu368Arg)51741WWOXUncertain significance-1RCV002755916; NMONDO:MONDO:0013687,MedGen:C3280452,OMIM:614322, Orphanet:284282; MONDO:MONDO:0010632,MedGen:C3463992,OMIM:308350167924555179245551NC_000016.9:g.79245551T>G-
NM_016373.4(WWOX):c.1110_1119del (p.Leu371fs)51741WWOXPathogenic2051756247RCV001232173; NMONDO:MONDO:0013687,MedGen:C3280452,OMIM:614322, Orphanet:284282; MONDO:MONDO:0010632,MedGen:C3463992,OMIM:30835016792455527924556116:g.79245552_79245561del-
NM_016373.4(WWOX):c.1107G>A (p.Glu369=)51741WWOXLikely benign369673368RCV001504073; NMONDO:MONDO:0010632,MedGen:C3463992,OMIM:308350; MONDO:MONDO:0013687,MedGen:C3280452,OMIM:614322, Orphanet:28428216792455557924555516:g.79245555G>A-
NM_016373.4(WWOX):c.1108G>A (p.Gly370Ser)51741WWOXUncertain significance770628801RCV001327899; NMONDO:MONDO:0013687,MedGen:C3280452,OMIM:614322, Orphanet:284282; MONDO:MONDO:0010632,MedGen:C3463992,OMIM:30835016792455567924555679245556-
NM_016373.4(WWOX):c.1109G>A (p.Gly370Asp)51741WWOXUncertain significance780816542RCV001977223; NMONDO:MONDO:0013687,MedGen:C3280452,OMIM:614322, Orphanet:284282; MONDO:MONDO:0010632,MedGen:C3463992,OMIM:30835016792455577924555779245557-
NM_016373.4(WWOX):c.1110T>A (p.Gly370=)51741WWOXLikely benign901897952RCV001393621; NMONDO:MONDO:0013687,MedGen:C3280452,OMIM:614322, Orphanet:284282; MONDO:MONDO:0010632,MedGen:C3463992,OMIM:30835016792455587924555816:g.79245558T>A-
NM_016373.4(WWOX):c.1110T>G (p.Gly370=)51741WWOXLikely benign-1RCV002577325; NMONDO:MONDO:0013687,MedGen:C3280452,OMIM:614322, Orphanet:284282; MONDO:MONDO:0010632,MedGen:C3463992,OMIM:308350167924555879245558-
NM_016373.4(WWOX):c.1112T>G (p.Leu371Arg)51741WWOXUncertain significance-1RCV002298341; NMONDO:MONDO:0013687,MedGen:C3280452,OMIM:614322, Orphanet:284282; MONDO:MONDO:0010632,MedGen:C3463992,OMIM:30835016792455607924556079245560-
NM_016373.4(WWOX):c.1113G>T (p.Leu371=)51741WWOXLikely benign2150867604RCV001422204; NMONDO:MONDO:0010632,MedGen:C3463992,OMIM:308350; MONDO:MONDO:0013687,MedGen:C3280452,OMIM:614322, Orphanet:28428216792455617924556179245561-
NM_016373.4(WWOX):c.1114G>T (p.Gly372Ter)51741WWOXConflicting interpretations of pathogenicity587777127RCV000519379|RCV000703935|RCV002252153; NMedGen:CN517202|MONDO:MONDO:0010632,MedGen:C3463992,OMIM:308350; MONDO:MONDO:0013687,MedGen:C3280452,OMIM:614322, Orphanet:284282|16792455627924556216:g.79245562G>TClinGen:CA396537070C3463992 308350 Epileptic encephalopathy, early infantile, 1;
NM_016373.4(WWOX):c.1114G>A (p.Gly372Arg)51741WWOXUncertain significance587777127RCV001891133; NMONDO:MONDO:0010632,MedGen:C3463992,OMIM:308350; MONDO:MONDO:0013687,MedGen:C3280452,OMIM:614322, Orphanet:28428216792455627924556279245562-
NM_016373.4(WWOX):c.1115G>A (p.Gly372Glu)51741WWOXUncertain significance1064793798RCV000480798|RCV000650195; NMedGen:CN517202|MONDO:MONDO:0010632,MedGen:C3463992,OMIM:308350; MONDO:MONDO:0013687,MedGen:C3280452,OMIM:614322, Orphanet:28428216792455637924556316:g.79245563G>AClinGen:CA16620275C3463992 308350 Epileptic encephalopathy, early infantile, 1;
NM_016373.4(WWOX):c.1117G>A (p.Gly373Arg)51741WWOXUncertain significance1400576596RCV001349756; NMONDO:MONDO:0010632,MedGen:C3463992,OMIM:308350; MONDO:MONDO:0013687,MedGen:C3280452,OMIM:614322, Orphanet:28428216792455657924556579245565-
NM_016373.4(WWOX):c.1118G>T (p.Gly373Val)51741WWOXUncertain significance769877812RCV000811373; NMONDO:MONDO:0010632,MedGen:C3463992,OMIM:308350; MONDO:MONDO:0013687,MedGen:C3280452,OMIM:614322, Orphanet:28428216792455667924556616:g.79245566G>T-
NM_016373.4(WWOX):c.1119G>C (p.Gly373=)51741WWOXLikely benign-1RCV002858721; NMONDO:MONDO:0013687,MedGen:C3280452,OMIM:614322, Orphanet:284282; MONDO:MONDO:0010632,MedGen:C3463992,OMIM:308350167924556779245567-
NM_016373.4(WWOX):c.1122G>A (p.Met374Ile)51741WWOXUncertain significance775460117RCV001954905; NMONDO:MONDO:0010632,MedGen:C3463992,OMIM:308350; MONDO:MONDO:0013687,MedGen:C3280452,OMIM:614322, Orphanet:28428216792455707924557079245570-
NM_016373.4(WWOX):c.1125C>T (p.Tyr375=)51741WWOXLikely benign372703745RCV001476915; NMONDO:MONDO:0013687,MedGen:C3280452,OMIM:614322, Orphanet:284282; MONDO:MONDO:0010632,MedGen:C3463992,OMIM:30835016792455737924557316:g.79245573C>T-
NM_016373.4(WWOX):c.1126T>C (p.Phe376Leu)51741WWOXUncertain significance1474278988RCV001237882; NMONDO:MONDO:0010632,MedGen:C3463992,OMIM:308350; MONDO:MONDO:0013687,MedGen:C3280452,OMIM:614322, Orphanet:28428216792455747924557416:g.79245574T>C-
NM_016373.4(WWOX):c.1128C>T (p.Phe376=)51741WWOXLikely benign1417388410RCV002098259; NMONDO:MONDO:0010632,MedGen:C3463992,OMIM:308350; MONDO:MONDO:0013687,MedGen:C3280452,OMIM:614322, Orphanet:28428216792455767924557679245576-
NM_016373.4(WWOX):c.1131C>A (p.Asn377Lys)51741WWOXUncertain significance377129275RCV000650203|RCV003156275; NMONDO:MONDO:0013687,MedGen:C3280452,OMIM:614322, Orphanet:284282; MONDO:MONDO:0010632,MedGen:C3463992,OMIM:308350|MedGen:CN51720216792455797924557916:g.79245579C>AClinGen:CA8183749C3463992 308350 Epileptic encephalopathy, early infantile, 1;
NM_016373.4(WWOX):c.1132_1133delinsTG (p.Asn378Cys)51741WWOXUncertain significance2051758116RCV001040848; NMONDO:MONDO:0010632,MedGen:C3463992,OMIM:308350; MONDO:MONDO:0013687,MedGen:C3280452,OMIM:614322, Orphanet:284282167924558079245581NC_000016.9:g.79245580_79245581delinsTG-
NM_016373.4(WWOX):c.1134C>T (p.Asn378=)51741WWOXBenign/Likely benign201088847RCV000443836|RCV000526819|RCV000602793|RCV002244894|RCV002244895|RCV002502527|RCV003333985; NMedGen:CN169374|MONDO:MONDO:0010632,MedGen:C3463992,OMIM:308350; MONDO:MONDO:0013687,MedGen:C3280452,OMIM:614322, Orphanet:284282|MONDO:MONDO:0007576,MedGen:C0546837,OMIM:133239, Orphanet:99977|MONDO:MONDO:0013687,MedGen:C3280452,OMIM:614322, Orphanet:2842816792455827924558216:g.79245582C>TClinGen:CA8183753C3463992 308350 Epileptic encephalopathy, early infantile, 1;
NM_016373.4(WWOX):c.1134C>G (p.Asn378Lys)51741WWOXUncertain significance201088847RCV001359149; NMONDO:MONDO:0010632,MedGen:C3463992,OMIM:308350; MONDO:MONDO:0013687,MedGen:C3280452,OMIM:614322, Orphanet:28428216792455827924558279245582-
NM_016373.4(WWOX):c.1139G>A (p.Cys380Tyr)51741WWOXUncertain significance758746365RCV000658209|RCV000686392; NMedGen:CN517202|MONDO:MONDO:0013687,MedGen:C3280452,OMIM:614322, Orphanet:284282; MONDO:MONDO:0010632,MedGen:C3463992,OMIM:30835016792455877924558716:g.79245587G>A-C3463992 308350 Epileptic encephalopathy, early infantile, 1;
NM_016373.4(WWOX):c.1141C>T (p.Arg381Cys)51741WWOXBenign/Likely benign200461412RCV000224270|RCV000437104|RCV001081219|RCV002243897|RCV002243898; NMedGen:C3661900|MedGen:CN169374|MONDO:MONDO:0013687,MedGen:C3280452,OMIM:614322, Orphanet:284282; MONDO:MONDO:0010632,MedGen:C3463992,OMIM:308350|MONDO:MONDO:0013687,MedGen:C3280452,OMIM:614322, Orphanet:284282|MONDO:MONDO:0014533,MedGen:C4015519,OMIM:616216792455897924558916:g.79245589C>TClinGen:CA8183758C3463992 308350 Epileptic encephalopathy, early infantile, 1;
NM_016373.4(WWOX):c.1141C>A (p.Arg381Ser)51741WWOXUncertain significance200461412RCV001990292; NMONDO:MONDO:0013687,MedGen:C3280452,OMIM:614322, Orphanet:284282; MONDO:MONDO:0010632,MedGen:C3463992,OMIM:30835016792455897924558979245589-
NM_016373.4(WWOX):c.1142G>A (p.Arg381His)51741WWOXLikely benign202002431RCV000460537|RCV001252635|RCV001569721; NMONDO:MONDO:0010632,MedGen:C3463992,OMIM:308350; MONDO:MONDO:0013687,MedGen:C3280452,OMIM:614322, Orphanet:284282|Human Phenotype Ontology:HP:0000730,Human Phenotype Ontology:HP:0001249,Human Phenotype Ontology:HP:0001267,Human Phenotype Ontology:HP:00012167924559079245590NC_000016.9:g.79245590G>AClinGen:CA8183759C3463992 308350 Epileptic encephalopathy, early infantile, 1;
NM_016373.4(WWOX):c.1142G>T (p.Arg381Leu)51741WWOXUncertain significance202002431RCV000650204; NMONDO:MONDO:0013687,MedGen:C3280452,OMIM:614322, Orphanet:284282; MONDO:MONDO:0010632,MedGen:C3463992,OMIM:308350167924559079245590NC_000016.9:g.79245590G>TClinGen:CA396537135C3463992 308350 Epileptic encephalopathy, early infantile, 1;
NM_016373.4(WWOX):c.1142G>C (p.Arg381Pro)51741WWOXUncertain significance202002431RCV002007628; NMONDO:MONDO:0013687,MedGen:C3280452,OMIM:614322, Orphanet:284282; MONDO:MONDO:0010632,MedGen:C3463992,OMIM:30835016792455907924559079245590-
NM_016373.4(WWOX):c.1143C>T (p.Arg381=)51741WWOXLikely benign1427739406RCV001492624|RCV001698038; NMONDO:MONDO:0010632,MedGen:C3463992,OMIM:308350; MONDO:MONDO:0013687,MedGen:C3280452,OMIM:614322, Orphanet:284282|MedGen:C366190016792455917924559116:g.79245591C>TClinGen:CA396537138CN169374 not specified;
NM_016373.4(WWOX):c.1145G>A (p.Cys382Tyr)51741WWOXUncertain significance199585408RCV001216959|RCV003259162; NMONDO:MONDO:0013687,MedGen:C3280452,OMIM:614322, Orphanet:284282; MONDO:MONDO:0010632,MedGen:C3463992,OMIM:308350|MeSH:D030342,MedGen:C095012316792455937924559316:g.79245593G>A-
NM_016373.4(WWOX):c.1146C>T (p.Cys382=)51741WWOXConflicting interpretations of pathogenicity780939546RCV000427908|RCV000695560|RCV001821181; NMedGen:CN517202|MONDO:MONDO:0013687,MedGen:C3280452,OMIM:614322, Orphanet:284282; MONDO:MONDO:0010632,MedGen:C3463992,OMIM:308350|MedGen:CN16937416792455947924559416:g.79245594C>TClinGen:CA8183761C3463992 308350 Epileptic encephalopathy, early infantile, 1;
NM_016373.4(WWOX):c.1148T>C (p.Met383Thr)51741WWOXUncertain significance1567625134RCV001893186; NMONDO:MONDO:0013687,MedGen:C3280452,OMIM:614322, Orphanet:284282; MONDO:MONDO:0010632,MedGen:C3463992,OMIM:30835016792455967924559679245596-
NM_016373.4(WWOX):c.1150C>T (p.Pro384Ser)51741WWOXUncertain significance544760115RCV000819051; NMONDO:MONDO:0010632,MedGen:C3463992,OMIM:308350; MONDO:MONDO:0013687,MedGen:C3280452,OMIM:614322, Orphanet:28428216792455987924559816:g.79245598C>T-
NM_016373.4(WWOX):c.1151C>G (p.Pro384Arg)51741WWOXUncertain significance2051759512RCV001048983; NMONDO:MONDO:0010632,MedGen:C3463992,OMIM:308350; MONDO:MONDO:0013687,MedGen:C3280452,OMIM:614322, Orphanet:28428216792455997924559916:g.79245599C>G-
NM_016373.4(WWOX):c.1155A>C (p.Ser385=)51741WWOXLikely benign1414101968RCV000650216; NMONDO:MONDO:0013687,MedGen:C3280452,OMIM:614322, Orphanet:284282; MONDO:MONDO:0010632,MedGen:C3463992,OMIM:30835016792456037924560316:g.79245603A>CClinGen:CA396537167C3463992 308350 Epileptic encephalopathy, early infantile, 1;
NM_016373.4(WWOX):c.1156C>T (p.Pro386Ser)51741WWOXUncertain significance-1RCV002297510; NMONDO:MONDO:0010632,MedGen:C3463992,OMIM:308350; MONDO:MONDO:0013687,MedGen:C3280452,OMIM:614322, Orphanet:28428216792456047924560479245604-
NM_016373.4(WWOX):c.1157C>T (p.Pro386Leu)51741WWOXUncertain significance1351213477RCV001227598; NMONDO:MONDO:0013687,MedGen:C3280452,OMIM:614322, Orphanet:284282; MONDO:MONDO:0010632,MedGen:C3463992,OMIM:30835016792456057924560516:g.79245605C>T-
NM_016373.4(WWOX):c.1158A>G (p.Pro386=)51741WWOXLikely benign755586346RCV001463482; NMONDO:MONDO:0010632,MedGen:C3463992,OMIM:308350; MONDO:MONDO:0013687,MedGen:C3280452,OMIM:614322, Orphanet:284282167924560679245606NC_000016.9:g.79245606A>GClinGen:CA8183764C3463992 308350 Epileptic encephalopathy, early infantile, 1;
NM_016373.4(WWOX):c.1160A>G (p.Glu387Gly)51741WWOXUncertain significance1316600993RCV001323944; NMONDO:MONDO:0013687,MedGen:C3280452,OMIM:614322, Orphanet:284282; MONDO:MONDO:0010632,MedGen:C3463992,OMIM:30835016792456087924560879245608-
NM_016373.4(WWOX):c.1162G>C (p.Ala388Pro)51741WWOXUncertain significance1060502729RCV000476559; NMONDO:MONDO:0013687,MedGen:C3280452,OMIM:614322, Orphanet:284282; MONDO:MONDO:0010632,MedGen:C3463992,OMIM:308350167924561079245610NC_000016.9:g.79245610G>CClinGen:CA16615004C3463992 308350 Epileptic encephalopathy, early infantile, 1;
NM_016373.4(WWOX):c.1165C>G (p.Gln389Glu)51741WWOXUncertain significance1484856529RCV001243203; NMONDO:MONDO:0010632,MedGen:C3463992,OMIM:308350; MONDO:MONDO:0013687,MedGen:C3280452,OMIM:614322, Orphanet:28428216792456137924561316:g.79245613C>G-
NM_016373.4(WWOX):c.1165C>T (p.Gln389Ter)51741WWOXConflicting interpretations of pathogenicity1484856529RCV001867230|RCV002307770|RCV003235606; NMONDO:MONDO:0013687,MedGen:C3280452,OMIM:614322, Orphanet:284282; MONDO:MONDO:0010632,MedGen:C3463992,OMIM:308350|MedGen:C3661900|MedGen:CN16937416792456137924561379245613-
NM_016373.4(WWOX):c.1170C>T (p.Ser390=)51741WWOXLikely benign372635911RCV000475867|RCV001584188; NMONDO:MONDO:0010632,MedGen:C3463992,OMIM:308350; MONDO:MONDO:0013687,MedGen:C3280452,OMIM:614322, Orphanet:284282|MedGen:CN517202167924561879245618NC_000016.9:g.79245618C>TClinGen:CA8183769C3463992 308350 Epileptic encephalopathy, early infantile, 1;
NM_016373.4(WWOX):c.1170C>A (p.Ser390Arg)51741WWOXUncertain significance372635911RCV000467962; NMONDO:MONDO:0013687,MedGen:C3280452,OMIM:614322, Orphanet:284282; MONDO:MONDO:0010632,MedGen:C3463992,OMIM:308350167924561879245618NC_000016.9:g.79245618C>AClinGen:CA16615013C3463992 308350 Epileptic encephalopathy, early infantile, 1;
NM_016373.4(WWOX):c.1170C>G (p.Ser390Arg)51741WWOXUncertain significance372635911RCV000688829; NMONDO:MONDO:0013687,MedGen:C3280452,OMIM:614322, Orphanet:284282; MONDO:MONDO:0010632,MedGen:C3463992,OMIM:308350167924561879245618NC_000016.9:g.79245618C>G-C3463992 308350 Epileptic encephalopathy, early infantile, 1;
NM_016373.4(WWOX):c.1171G>A (p.Glu391Lys)51741WWOXUncertain significance375757102RCV000650208; NMONDO:MONDO:0013687,MedGen:C3280452,OMIM:614322, Orphanet:284282; MONDO:MONDO:0010632,MedGen:C3463992,OMIM:308350167924561979245619NC_000016.9:g.79245619G>AClinGen:CA8183771C3463992 308350 Epileptic encephalopathy, early infantile, 1;
NM_016373.4(WWOX):c.1171G>C (p.Glu391Gln)51741WWOXUncertain significance375757102RCV001922098; NMONDO:MONDO:0010632,MedGen:C3463992,OMIM:308350; MONDO:MONDO:0013687,MedGen:C3280452,OMIM:614322, Orphanet:28428216792456197924561979245619-
NM_016373.4(WWOX):c.1172A>G (p.Glu391Gly)51741WWOXUncertain significance369959670RCV001585939|RCV001040398; NMedGen:C3661900|MONDO:MONDO:0013687,MedGen:C3280452,OMIM:614322, Orphanet:284282; MONDO:MONDO:0010632,MedGen:C3463992,OMIM:30835016792456207924562016:g.79245620A>G-
NM_016373.4(WWOX):c.1175A>T (p.Glu392Val)51741WWOXUncertain significance1287638259RCV001941169; NMONDO:MONDO:0010632,MedGen:C3463992,OMIM:308350; MONDO:MONDO:0013687,MedGen:C3280452,OMIM:614322, Orphanet:28428216792456237924562379245623-
NM_016373.4(WWOX):c.1176G>T (p.Glu392Asp)51741WWOXUncertain significance763482100RCV002009820; NMONDO:MONDO:0010632,MedGen:C3463992,OMIM:308350; MONDO:MONDO:0013687,MedGen:C3280452,OMIM:614322, Orphanet:28428216792456247924562479245624-
NM_016373.4(WWOX):c.1179_1210del (p.Ala394fs)51741WWOXUncertain significance1064792969RCV000464767; NMONDO:MONDO:0013687,MedGen:C3280452,OMIM:614322, Orphanet:284282; MONDO:MONDO:0010632,MedGen:C3463992,OMIM:308350167924562679245657NC_000016.9:g.79245627_79245658delClinGen:CA16615008
NM_016373.4(WWOX):c.1178C>T (p.Thr393Met)51741WWOXConflicting interpretations of pathogenicity139253468RCV000466359|RCV001080806|RCV002523319; NMedGen:C3661900|MONDO:MONDO:0010632,MedGen:C3463992,OMIM:308350; MONDO:MONDO:0013687,MedGen:C3280452,OMIM:614322, Orphanet:284282|MeSH:D030342,MedGen:C0950123167924562679245626NC_000016.9:g.79245626C>TClinGen:CA8183777C3463992 308350 Epileptic encephalopathy, early infantile, 1;
NM_016373.4(WWOX):c.1178C>G (p.Thr393Arg)51741WWOXUncertain significance-1RCV002890863; NMONDO:MONDO:0013687,MedGen:C3280452,OMIM:614322, Orphanet:284282; MONDO:MONDO:0010632,MedGen:C3463992,OMIM:308350167924562679245626NC_000016.9:g.79245626C>G-
NM_016373.4(WWOX):c.1179G>A (p.Thr393=)51741WWOXLikely benign376293017RCV000438732|RCV000468158; NMedGen:CN169374|MONDO:MONDO:0013687,MedGen:C3280452,OMIM:614322, Orphanet:284282; MONDO:MONDO:0010632,MedGen:C3463992,OMIM:30835016792456277924562716:g.79245627G>AClinGen:CA8183778C3463992 308350 Epileptic encephalopathy, early infantile, 1;
NM_016373.4(WWOX):c.1180G>A (p.Ala394Thr)51741WWOXUncertain significance767286260RCV000687773|RCV002473105; NMONDO:MONDO:0013687,MedGen:C3280452,OMIM:614322, Orphanet:284282; MONDO:MONDO:0010632,MedGen:C3463992,OMIM:308350|MedGen:CN517202167924562879245628NC_000016.9:g.79245628G>A-C3463992 308350 Epileptic encephalopathy, early infantile, 1;
NM_016373.4(WWOX):c.1182C>G (p.Ala394=)51741WWOXLikely benign-1RCV002842241; NMONDO:MONDO:0013687,MedGen:C3280452,OMIM:614322, Orphanet:284282; MONDO:MONDO:0010632,MedGen:C3463992,OMIM:308350167924563079245630-
NM_016373.4(WWOX):c.1183C>G (p.Arg395Gly)51741WWOXUncertain significance750042007RCV001980814; NMONDO:MONDO:0010632,MedGen:C3463992,OMIM:308350; MONDO:MONDO:0013687,MedGen:C3280452,OMIM:614322, Orphanet:28428216792456317924563179245631-
NM_016373.4(WWOX):c.1183C>T (p.Arg395Trp)51741WWOXUncertain significance750042007RCV002027323|RCV002548874; NMONDO:MONDO:0010632,MedGen:C3463992,OMIM:308350; MONDO:MONDO:0013687,MedGen:C3280452,OMIM:614322, Orphanet:284282|MeSH:D030342,MedGen:C095012316792456317924563179245631-
NM_016373.4(WWOX):c.1183C>A (p.Arg395=)51741WWOXLikely benign-1RCV002624639; NMONDO:MONDO:0013687,MedGen:C3280452,OMIM:614322, Orphanet:284282; MONDO:MONDO:0010632,MedGen:C3463992,OMIM:308350167924563179245631-
NM_016373.4(WWOX):c.1184G>A (p.Arg395Gln)51741WWOXUncertain significance373148311RCV000799565|RCV001759520; NMONDO:MONDO:0010632,MedGen:C3463992,OMIM:308350; MONDO:MONDO:0013687,MedGen:C3280452,OMIM:614322, Orphanet:284282|MedGen:CN51720216792456327924563216:g.79245632G>A-
NM_016373.4(WWOX):c.1185G>C (p.Arg395=)51741WWOXLikely benign1296581246RCV001570577|RCV002569049; NMedGen:C3661900|MONDO:MONDO:0013687,MedGen:C3280452,OMIM:614322, Orphanet:284282; MONDO:MONDO:0010632,MedGen:C3463992,OMIM:30835016792456337924563379245633-
NM_016373.4(WWOX):c.1188C>A (p.Thr396=)51741WWOXLikely benign923268639RCV000542127; NMONDO:MONDO:0013687,MedGen:C3280452,OMIM:614322, Orphanet:284282; MONDO:MONDO:0010632,MedGen:C3463992,OMIM:30835016792456367924563616:g.79245636C>AClinGen:CA284131614C3463992 308350 Epileptic encephalopathy, early infantile, 1;
NM_016373.4(WWOX):c.1191G>C (p.Leu397=)51741WWOXLikely benign749223740RCV002540968; NMONDO:MONDO:0010632,MedGen:C3463992,OMIM:308350; MONDO:MONDO:0013687,MedGen:C3280452,OMIM:614322, Orphanet:28428216792456397924563916:g.79245639G>C-
NM_016373.4(WWOX):c.1195G>A (p.Ala399Thr)51741WWOXUncertain significance375970162RCV001247966; NMONDO:MONDO:0010632,MedGen:C3463992,OMIM:308350; MONDO:MONDO:0013687,MedGen:C3280452,OMIM:614322, Orphanet:28428216792456437924564316:g.79245643G>A-
NM_016373.4(WWOX):c.1196C>T (p.Ala399Val)51741WWOXUncertain significance200815431RCV000714204|RCV001057217|RCV002532966; NMedGen:C3661900|MONDO:MONDO:0013687,MedGen:C3280452,OMIM:614322, Orphanet:284282; MONDO:MONDO:0010632,MedGen:C3463992,OMIM:308350|MeSH:D030342,MedGen:C0950123167924564479245644NC_000016.9:g.79245644C>T-
NM_016373.4(WWOX):c.1197G>A (p.Ala399=)51741WWOXBenign/Likely benign376935572RCV000714205|RCV001082606|RCV002244903|RCV002244902; NMedGen:C3661900|MONDO:MONDO:0010632,MedGen:C3463992,OMIM:308350; MONDO:MONDO:0013687,MedGen:C3280452,OMIM:614322, Orphanet:284282|MONDO:MONDO:0014533,MedGen:C4015519,OMIM:616211, Orphanet:442835|MONDO:MONDO:0013687,MedGen:C3280452,OMIM:614322, Orphanet:284216792456457924564516:g.79245645G>AClinGen:CA8183787C3463992 308350 Epileptic encephalopathy, early infantile, 1;
NM_016373.4(WWOX):c.1197G>T (p.Ala399=)51741WWOXLikely benign376935572RCV000608413|RCV001458527; NMedGen:CN169374|MONDO:MONDO:0010632,MedGen:C3463992,OMIM:308350; MONDO:MONDO:0013687,MedGen:C3280452,OMIM:614322, Orphanet:28428216792456457924564516:g.79245645G>TClinGen:CA8183788CN169374 not specified;
NM_016373.4(WWOX):c.1203C>T (p.Ser401=)51741WWOXLikely benign201428060RCV000466131|RCV001720175|RCV001821177; NMONDO:MONDO:0013687,MedGen:C3280452,OMIM:614322, Orphanet:284282; MONDO:MONDO:0010632,MedGen:C3463992,OMIM:308350|MedGen:C3661900|MedGen:CN16937416792456517924565116:g.79245651C>TClinGen:CA8183790C3463992 308350 Epileptic encephalopathy, early infantile, 1;
NM_016373.4(WWOX):c.1203C>G (p.Ser401Arg)51741WWOXUncertain significance-1RCV003088262; NMONDO:MONDO:0013687,MedGen:C3280452,OMIM:614322, Orphanet:284282; MONDO:MONDO:0010632,MedGen:C3463992,OMIM:308350167924565179245651NC_000016.9:g.79245651C>G-
NM_016373.4(WWOX):c.1204G>A (p.Glu402Lys)51741WWOXUncertain significance200839945RCV000523943|RCV000552320; NMedGen:C3661900|MONDO:MONDO:0010632,MedGen:C3463992,OMIM:308350; MONDO:MONDO:0013687,MedGen:C3280452,OMIM:614322, Orphanet:28428216792456527924565216:g.79245652G>AClinGen:CA8183792C3463992 308350 Epileptic encephalopathy, early infantile, 1;
NM_016373.4(WWOX):c.1204G>C (p.Glu402Gln)51741WWOXUncertain significance200839945RCV001302038|RCV002543095; NMONDO:MONDO:0010632,MedGen:C3463992,OMIM:308350; MONDO:MONDO:0013687,MedGen:C3280452,OMIM:614322, Orphanet:284282|MeSH:D030342,MedGen:C095012316792456527924565279245652-
NM_016373.4(WWOX):c.1205A>G (p.Glu402Gly)51741WWOXUncertain significance2051763292RCV002050608; NMONDO:MONDO:0010632,MedGen:C3463992,OMIM:308350; MONDO:MONDO:0013687,MedGen:C3280452,OMIM:614322, Orphanet:28428216792456537924565379245653-
NM_016373.4(WWOX):c.1206G>C (p.Glu402Asp)51741WWOXUncertain significance923748427RCV001347310; NMONDO:MONDO:0010632,MedGen:C3463992,OMIM:308350; MONDO:MONDO:0013687,MedGen:C3280452,OMIM:614322, Orphanet:28428216792456547924565479245654-
NM_016373.4(WWOX):c.1206G>A (p.Glu402=)51741WWOXLikely benign923748427RCV002083864; NMONDO:MONDO:0010632,MedGen:C3463992,OMIM:308350; MONDO:MONDO:0013687,MedGen:C3280452,OMIM:614322, Orphanet:28428216792456547924565479245654-
NM_016373.4(WWOX):c.1209G>A (p.Arg403=)51741WWOXLikely benign764726398RCV002090934; NMONDO:MONDO:0010632,MedGen:C3463992,OMIM:308350; MONDO:MONDO:0013687,MedGen:C3280452,OMIM:614322, Orphanet:28428216792456577924565779245657-
NM_016373.4(WWOX):c.1216C>T (p.Gln406Ter)51741WWOXUncertain significance1197462916RCV001040374; NMONDO:MONDO:0010632,MedGen:C3463992,OMIM:308350; MONDO:MONDO:0013687,MedGen:C3280452,OMIM:614322, Orphanet:28428216792456647924566416:g.79245664C>T-
NM_016373.4(WWOX):c.1216C>G (p.Gln406Glu)51741WWOXUncertain significance1197462916RCV001876505; NMONDO:MONDO:0013687,MedGen:C3280452,OMIM:614322, Orphanet:284282; MONDO:MONDO:0010632,MedGen:C3463992,OMIM:30835016792456647924566479245664-
NM_016373.4(WWOX):c.1218A>C (p.Gln406His)51741WWOXUncertain significance767985798RCV001218845; NMONDO:MONDO:0010632,MedGen:C3463992,OMIM:308350; MONDO:MONDO:0013687,MedGen:C3280452,OMIM:614322, Orphanet:28428216792456667924566616:g.79245666A>C-
NM_016373.4(WWOX):c.1218A>G (p.Gln406=)51741WWOXLikely benign-1RCV002937495; NMONDO:MONDO:0013687,MedGen:C3280452,OMIM:614322, Orphanet:284282; MONDO:MONDO:0010632,MedGen:C3463992,OMIM:308350167924566679245666-
NM_016373.4(WWOX):c.1219_1220inv (p.Glu407Ser)51741WWOXUncertain significance-1RCV001243439; NMONDO:MONDO:0010632,MedGen:C3463992,OMIM:308350; MONDO:MONDO:0013687,MedGen:C3280452,OMIM:614322, Orphanet:284282167924566779245668NC_000016.9:g.79245667_79245668inv-
NM_016373.4(WWOX):c.1222C>T (p.Arg408Trp)51741WWOXUncertain significance144234059RCV000656056|RCV000807071|RCV003128810; NMONDO:MONDO:0007295,MedGen:C0376532, Orphanet:1945|MONDO:MONDO:0010632,MedGen:C3463992,OMIM:308350; MONDO:MONDO:0013687,MedGen:C3280452,OMIM:614322, Orphanet:284282|MedGen:C3661900167924567079245670NC_000016.9:g.79245670C>TClinGen:CA8183799CN200685 Rolandic epilepsy;
NM_016373.4(WWOX):c.1223G>A (p.Arg408Gln)51741WWOXUncertain significance765857107RCV000691014|RCV002477554; NMONDO:MONDO:0013687,MedGen:C3280452,OMIM:614322, Orphanet:284282; MONDO:MONDO:0010632,MedGen:C3463992,OMIM:308350|MONDO:MONDO:0007576,MedGen:C0546837,OMIM:133239, Orphanet:99977; MONDO:MONDO:0013687,MedGen:C3280452,OMIM:614322, Orphanet:284282; MONDO:MONDO:00167924567179245671NC_000016.9:g.79245671G>A-C3463992 308350 Epileptic encephalopathy, early infantile, 1;
NM_016373.4(WWOX):c.1223G>T (p.Arg408Leu)51741WWOXUncertain significance765857107RCV002244208|RCV003093941|RCV003250475; NMONDO:MONDO:0014533,MedGen:C4015519,OMIM:616211, Orphanet:442835|MONDO:MONDO:0010632,MedGen:C3463992,OMIM:308350; MONDO:MONDO:0013687,MedGen:C3280452,OMIM:614322, Orphanet:284282|MeSH:D030342,MedGen:C095012316792456717924567179245671-
NM_016373.4(WWOX):c.1226T>C (p.Leu409Pro)51741WWOXUncertain significance368397011RCV001945742; NMONDO:MONDO:0010632,MedGen:C3463992,OMIM:308350; MONDO:MONDO:0013687,MedGen:C3280452,OMIM:614322, Orphanet:28428216792456747924567479245674-
NM_016373.4(WWOX):c.1227T>C (p.Leu409=)51741WWOXLikely benign1370851633RCV002172922; NMONDO:MONDO:0010632,MedGen:C3463992,OMIM:308350; MONDO:MONDO:0013687,MedGen:C3280452,OMIM:614322, Orphanet:28428216792456757924567579245675-
NM_016373.4(WWOX):c.1228G>T (p.Gly410Cys)51741WWOXConflicting interpretations of pathogenicity76204496RCV000650211|RCV001722560|RCV001815005; NMONDO:MONDO:0013687,MedGen:C3280452,OMIM:614322, Orphanet:284282; MONDO:MONDO:0010632,MedGen:C3463992,OMIM:308350|MedGen:C3661900|MedGen:CN16937416792456767924567616:g.79245676G>TClinGen:CA8183802C3463992 308350 Epileptic encephalopathy, early infantile, 1;
NM_016373.4(WWOX):c.1231_1233del (p.Ser411del)51741WWOXUncertain significance770788315RCV000415436|RCV000695511; NMONDO:MONDO:0013687,MedGen:C3280452,OMIM:614322, Orphanet:284282|MONDO:MONDO:0010632,MedGen:C3463992,OMIM:308350; MONDO:MONDO:0013687,MedGen:C3280452,OMIM:614322, Orphanet:284282167924567779245679NC_000016.9:g.79245679_79245681delClinGen:CA8183803C3463992 308350 Epileptic encephalopathy, early infantile, 1;
NM_016373.4(WWOX):c.1230C>G (p.Gly410=)51741WWOXLikely benign778834456RCV001428261; NMONDO:MONDO:0010632,MedGen:C3463992,OMIM:308350; MONDO:MONDO:0013687,MedGen:C3280452,OMIM:614322, Orphanet:28428216792456787924567879245678-
NM_016373.4(WWOX):c.1232G>C (p.Ser411Thr)51741WWOXUncertain significance-1RCV003050456; NMONDO:MONDO:0013687,MedGen:C3280452,OMIM:614322, Orphanet:284282; MONDO:MONDO:0010632,MedGen:C3463992,OMIM:308350167924568079245680NC_000016.9:g.79245680G>C-
NM_016373.4(WWOX):c.1238C>A (p.Ser413Tyr)51741WWOXBenign117065412RCV000234375|RCV000427849|RCV000714206|RCV002243908|RCV002243909; NMONDO:MONDO:0013687,MedGen:C3280452,OMIM:614322, Orphanet:284282; MONDO:MONDO:0010632,MedGen:C3463992,OMIM:308350|MedGen:CN169374|MedGen:C3661900|MONDO:MONDO:0013687,MedGen:C3280452,OMIM:614322, Orphanet:284282|MONDO:MONDO:0014533,MedGen:C4015519,OMIM:616216792456867924568616:g.79245686C>AClinGen:CA8183807C3463992 308350 Epileptic encephalopathy, early infantile, 1;
NM_016373.4(WWOX):c.1238C>G (p.Ser413Cys)51741WWOXUncertain significance117065412RCV000530623; NMONDO:MONDO:0013687,MedGen:C3280452,OMIM:614322, Orphanet:284282; MONDO:MONDO:0010632,MedGen:C3463992,OMIM:30835016792456867924568616:g.79245686C>GClinGen:CA8183808C3463992 308350 Epileptic encephalopathy, early infantile, 1;
NM_016373.4(WWOX):c.1240_*36del (p.Gly414_Ter415del)51741WWOXUncertain significance2051765287RCV001035387; NMONDO:MONDO:0010632,MedGen:C3463992,OMIM:308350; MONDO:MONDO:0013687,MedGen:C3280452,OMIM:614322, Orphanet:28428216792456867924572716:g.79245686_79245727del-
NM_016373.4(WWOX):c.1239C>T (p.Ser413=)51741WWOXBenign/Likely benign199576434RCV000244339|RCV000714207|RCV001084018|RCV002243911|RCV002243910; NMedGen:CN169374|MedGen:C3661900|MONDO:MONDO:0013687,MedGen:C3280452,OMIM:614322, Orphanet:284282; MONDO:MONDO:0010632,MedGen:C3463992,OMIM:308350|MONDO:MONDO:0014533,MedGen:C4015519,OMIM:616211, Orphanet:442835|MONDO:MONDO:0013687,MedGen:C3280452,OMIM:6143167924568779245687NC_000016.9:g.79245687C>TClinGen:CA8183809C3463992 308350 Epileptic encephalopathy, early infantile, 1;
NM_016373.4(WWOX):c.1239C>G (p.Ser413=)51741WWOXLikely benign199576434RCV000650215; NMONDO:MONDO:0013687,MedGen:C3280452,OMIM:614322, Orphanet:284282; MONDO:MONDO:0010632,MedGen:C3463992,OMIM:308350167924568779245687NC_000016.9:g.79245687C>GClinGen:CA8183810C3463992 308350 Epileptic encephalopathy, early infantile, 1;
NM_016373.4(WWOX):c.1240G>A (p.Gly414Ser)51741WWOXUncertain significance201606637RCV000519792|RCV000545336; NMedGen:C3661900|MONDO:MONDO:0010632,MedGen:C3463992,OMIM:308350; MONDO:MONDO:0013687,MedGen:C3280452,OMIM:614322, Orphanet:28428216792456887924568816:g.79245688G>AClinGen:CA8183811C3463992 308350 Epileptic encephalopathy, early infantile, 1;
NM_016373.4(WWOX):c.1242C>T (p.Gly414=)51741WWOXLikely benign557367276RCV002199129; NMONDO:MONDO:0010632,MedGen:C3463992,OMIM:308350; MONDO:MONDO:0013687,MedGen:C3280452,OMIM:614322, Orphanet:28428216792456907924569079245690-
NM_016373.4(WWOX):c.1242del (p.Ter415LysextTer?)51741WWOXUncertain significance-1RCV002828502; NMONDO:MONDO:0013687,MedGen:C3280452,OMIM:614322, Orphanet:284282; MONDO:MONDO:0010632,MedGen:C3463992,OMIM:308350167924569079245690NC_000016.9:g.79245690del-
NM_016373.4(WWOX):c.1244A>C (p.Ter415Ser)51741WWOXUncertain significance2150868322RCV001986987; NMONDO:MONDO:0013687,MedGen:C3280452,OMIM:614322, Orphanet:284282; MONDO:MONDO:0010632,MedGen:C3463992,OMIM:30835016792456927924569279245692-
NM_016373.4(WWOX):c.1245A>C (p.Ter415Tyr)51741WWOXUncertain significance-1RCV003007893; NMONDO:MONDO:0013687,MedGen:C3280452,OMIM:614322, Orphanet:284282; MONDO:MONDO:0010632,MedGen:C3463992,OMIM:308350167924569379245693NC_000016.9:g.79245693A>C-
NM_016373.4(WWOX):c.*187_*190dup51741WWOXUncertain significance1597489135RCV000989642; NMONDO:MONDO:0010632,MedGen:C3463992,OMIM:30835016792458797924588016:g.79245879_79245880insTATC-
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