MSeqDR Mitochondrial Disease Portal


 
*:HP: HPO terms, UMDF: 1= Disease, ND: NAMDC terms.
  Most Studied  CPEO, Complex I Deficiency, COXPD1, Leigh, LHON, MELAS, MERRF, Myopathy, SANDO
Term ID:7108
Name:Lissencephaly
Definition:A smooth brain malformation of the CEREBRAL CORTEX resulting from the abnormal location of developing neurons during corticogenesis. It is characterized by an absence of normal convoluted indentations on the surface of the brain (agyria), or fewer and shallower indentations (pachygryia). There is a reduced number of cortical layers, typically 4 instead of 6, resulting in a thickened cortex, and reduced cerebral white matter that is a reversal of the normal ratio of cerebral white matter to cortex.
Alternative IDs:DO:DOID:0050453|OMIM:607432|OMIM:614019|OMIM:615191|OMIM:617255
ParentIDs:MESH:D054081
TreeNumbers:C10.500.507.450.499 |C16.131.666.507.450.499
Synonyms:Agyria |Agyrias |Broad Gyri of Cerebrum |ILS |Large Gyri of Cerebrum |LIS1 |LIS4 |LIS5 |LIS8 |Lissencephalia |Lissencephalies |LISSENCEPHALY 1 |LISSENCEPHALY 4 |LISSENCEPHALY 4 WITH MICROCEPHALY |LISSENCEPHALY 5 |LISSENCEPHALY 8 |LISSENCEPHALY, CLASSIC SUBCORTICAL LAMIN
Slim Mappings:Congenital abnormality|Nervous system disease
Reference: MedGen: D054082
MeSH: D054082
OMIM: 607432;
MSeqDR LSDB:  
Genes: LAMB1; NDE1; PAFAH1B1;
Phenotypes
1 HP:0002500Abnormality of the cerebral white matter
2 HP:0001321Cerebellar hypoplasia
3 HP:0001263Global developmental delay
NAMDC:  Delayed development (evidence of at least one of A through F)
4 HP:0001263Global developmental delay
NAMDC:  Mental retardation
5 HP:0002282Heterotopia
6 HP:0002365Hypoplasia of the brainstem
7 HP:0001249Intellectual disability
8 HP:0008936Muscular hypotonia of the trunk
9 HP:0001302Pachygyria
10 HP:0005484Postnatal microcephaly
11 HP:0001250Seizures
NAMDC:  Seizures
12 HP:0001285Spastic tetraparesis
13 HP:0003745Sporadic
14 HP:0003828Variable expressivity
15 HP:0002119Ventriculomegaly
Disease Causing ClinVar Variants
Variation_NameGeneIDGeneSymbolClinicalSignificancedbSNPRCVaccessionTestedInGTRPhenotypeIDsChromosomeStartStopHGVS_cHGVS_pHGVS_gOtherIDsDisease_ClinVar
NC_000017.11:g.(?_2638238)_(2638345_?)del5048PAFAH1B1Likely pathogenic-1RCV000585819; NMedGen:C0431375,OMIM:607432, Orphanet:ORPHA952321725415322541639-C0431375 607432 Lissencephaly 1;
NM_000430.3(PAFAH1B1):c.3G>A (p.Met1Ile)5048PAFAH1B1Pathogenic587784265RCV000147036; NMedGen:C0431375,OMIM:607432, Orphanet:ORPHA952321725415852541585-C0431375 607432 Lissencephaly 1;
NM_000430.3(PAFAH1B1):c.22C>T (p.Arg8Ter)5048PAFAH1B1Pathogenic121434489RCV000008549; RCV000008548; NMedGen:C0431375,OMIM:607432, Orphanet:ORPHA95232; MedGen:C1848201, Orphanet:ORPHA997961725416042541604OMIM Allelic Variant:601545.0009C0431375 607432 Lissencephaly 1;
NM_000430.3(PAFAH1B1):c.33-3C>T5048PAFAH1B1Pathogenic587784260RCV000147030; NMedGen:C0431375,OMIM:607432, Orphanet:ORPHA952321725686632568663-C0431375 607432 Lissencephaly 1;
NM_000430.3(PAFAH1B1):c.37C>T (p.Arg13Ter)5048PAFAH1B1Pathogenic587784262RCV000147032; NMedGen:C0431375,OMIM:607432, Orphanet:ORPHA952321725686702568670-C0431375 607432 Lissencephaly 1;
NM_000430.3(PAFAH1B1):c.56T>G (p.Leu19Arg)5048PAFAH1B1Pathogenic587784272RCV000147045; NMedGen:C0431375,OMIM:607432, Orphanet:ORPHA952321725686892568689-C0431375 607432 Lissencephaly 1;
NM_000430.3(PAFAH1B1):c.72_73insAT (p.Glu25Metfs)5048PAFAH1B1Pathogenic797045866RCV000194082; NMedGen:C0431375,OMIM:607432, Orphanet:ORPHA952321725687042568705-C0431375 607432 Lissencephaly 1;
NM_000430.3(PAFAH1B1):c.72T>G (p.Tyr24Ter)5048PAFAH1B1Pathogenic587784285RCV000147059; NMedGen:C0431375,OMIM:607432, Orphanet:ORPHA952321725687052568705-C0431375 607432 Lissencephaly 1;
NM_000430.3(PAFAH1B1):c.84T>G (p.Tyr28Ter)5048PAFAH1B1Pathogenic369259961RCV000147064; NMedGen:C0431375,OMIM:607432, Orphanet:ORPHA952321725687172568717-C0431375 607432 Lissencephaly 1;
NM_000430.3(PAFAH1B1):c.92T>C (p.Phe31Ser)5048PAFAH1B1Pathogenic121434486RCV000008545; NMedGen:C0431375,OMIM:607432, Orphanet:ORPHA952321725687252568725OMIM Allelic Variant:601545.0006,UniProtKB (protein):P43034#VAR_015398C0431375 607432 Lissencephaly 1;
NM_000430.3(PAFAH1B1):c.118-14_118-10delTTTAT5048PAFAH1B1Uncertain significance1555526298RCV000656496; NMedGen:C0431375,OMIM:607432, Orphanet:ORPHA952321725692962569300-C0431375 607432 Lissencephaly 1;
NM_000430.3(PAFAH1B1):c.121G>A (p.Glu41Lys)5048PAFAH1B1Likely pathogenic587784250RCV000147019; RCV000484701; NMedGen:C0431375,OMIM:607432, Orphanet:ORPHA95232; MedGen:CN5172021725693132569313-C0431375 607432 Lissencephaly 1;
NM_000430.3(PAFAH1B1):c.136_137del (p.Lys46Valfs)5048PAFAH1B1Pathogenic587784252RCV000147021; NMedGen:C0431375,OMIM:607432, Orphanet:ORPHA952321725693282569329NC_000017.10:g.2569328_2569329delAA-C0431375 607432 Lissencephaly 1;
NM_000430.3(PAFAH1B1):c.152del (p.Leu51Trpfs)5048PAFAH1B1Pathogenic587784253RCV000147022; NMedGen:C0431375,OMIM:607432, Orphanet:ORPHA952321725693442569344NC_000017.10:g.2569344delT-C0431375 607432 Lissencephaly 1;
NM_000430.3(PAFAH1B1):c.162delA (p.Lys54Asnfs)5048PAFAH1B1Pathogenic113994198RCV000020302; RCV000255298; NMedGen:C0431375,OMIM:607432, Orphanet:ORPHA95232; MedGen:CN5172021725693542569354-C0431375 607432 Lissencephaly 1;
NM_000430.3(PAFAH1B1):c.162dupA (p.Trp55Metfs)5048PAFAH1B1Pathogenic113994198RCV000020303; RCV000364082; NMedGen:C0431375,OMIM:607432, Orphanet:ORPHA95232; MedGen:CN5172021725693542569354-C0431375 607432 Lissencephaly 1;
NM_000430.3(PAFAH1B1):c.163T>A (p.Trp55Arg)5048PAFAH1B1Pathogenic587784254RCV000147023; NMedGen:C0431375,OMIM:607432, Orphanet:ORPHA952321725693552569355-C0431375 607432 Lissencephaly 1;
NM_000430.3(PAFAH1B1):c.177delT (p.Arg60Aspfs)5048PAFAH1B1Pathogenic1555526309RCV000677424; NMedGen:C0431375,OMIM:607432, Orphanet:ORPHA952321725693692569369-C0431375 607432 Lissencephaly 1;
NM_000430.3(PAFAH1B1):c.190_192+5dup5048PAFAH1B1Pathogenic797045857RCV000192347; NMedGen:C0431375,OMIM:607432, Orphanet:ORPHA952321725693822569389-C0431375 607432 Lissencephaly 1;
NM_000430.3(PAFAH1B1):c.192G>C (p.Lys64Asn)5048PAFAH1B1Pathogenic587784257RCV000147027; NMedGen:C0431375,OMIM:607432, Orphanet:ORPHA952321725693842569384-C0431375 607432 Lissencephaly 1;
NM_000430.3(PAFAH1B1):c.192+1G>A5048PAFAH1B1Pathogenic587784256RCV000147025; NMedGen:C0431375,OMIM:607432, Orphanet:ORPHA952321725693852569385-C0431375 607432 Lissencephaly 1;
NM_000430.3(PAFAH1B1):c.192+1G>T5048PAFAH1B1Pathogenic587784256RCV000147026; NMedGen:C0431375,OMIM:607432, Orphanet:ORPHA952321725693852569385-C0431375 607432 Lissencephaly 1;
NM_000430.3(PAFAH1B1):c.192+15T>C5048PAFAH1B1Uncertain significance587784255RCV000147024; NMedGen:C0431375,OMIM:607432, Orphanet:ORPHA952321725693992569399-C0431375 607432 Lissencephaly 1;
NM_000430.3(PAFAH1B1):c.265C>T (p.Arg89Ter)5048PAFAH1B1Pathogenic587784258RCV000147028; RCV000429627; NMedGen:C0431375,OMIM:607432, Orphanet:ORPHA95232; MedGen:CN5172021725703582570358-C0431375 607432 Lissencephaly 1;
NM_000430.3(PAFAH1B1):c.288_289dup (p.Arg97Profs)5048PAFAH1B1Pathogenic797045858RCV000193550; NMedGen:C0431375,OMIM:607432, Orphanet:ORPHA952321725703812570382NC_000017.10:g.2570381_2570382dupCC-C0431375 607432 Lissencephaly 1;
NM_000430.3(PAFAH1B1):c.305dupA (p.Tyr102Terfs)5048PAFAH1B1Pathogenic587784259RCV000147029; NMedGen:C0431375,OMIM:607432, Orphanet:ORPHA952321725703982570398-C0431375 607432 Lissencephaly 1;
NM_000430.3(PAFAH1B1):c.347dup (p.His117Profs)5048PAFAH1B1Pathogenic797045859RCV000192650; NMedGen:C0431375,OMIM:607432, Orphanet:ORPHA952321725704402570440NC_000017.10:g.2570440dupT-C0431375 607432 Lissencephaly 1;
NM_000430.3(PAFAH1B1):c.371T>A (p.Val124Asp)5048PAFAH1B1Pathogenic587784261RCV000147031; NMedGen:C0431375,OMIM:607432, Orphanet:ORPHA952321725704642570464-C0431375 607432 Lissencephaly 1;
NM_000430.3(PAFAH1B1):c.386A>T (p.Asp129Val)5048PAFAH1B1Pathogenic587784263RCV000147033; NMedGen:C0431375,OMIM:607432, Orphanet:ORPHA952321725704792570479-C0431375 607432 Lissencephaly 1;
NM_000430.3(PAFAH1B1):c.399+1G>A5048PAFAH1B1Pathogenic587784264RCV000147035; NMedGen:C0431375,OMIM:607432, Orphanet:ORPHA952321725704932570493-C0431375 607432 Lissencephaly 1;
NM_000430.3(PAFAH1B1):c.405G>A (p.Trp135Ter)5048PAFAH1B1Pathogenic587784266RCV000147037; NMedGen:C0431375,OMIM:607432, Orphanet:ORPHA952321725734622573462-C0431375 607432 Lissencephaly 1;
NM_000430.3(PAFAH1B1):c.430C>T (p.Arg144Ter)5048PAFAH1B1Pathogenic587784267RCV000147038; RCV000255123; NMedGen:C0431375,OMIM:607432, Orphanet:ORPHA95232; MedGen:CN5172021725734872573487-C0431375 607432 Lissencephaly 1;
NM_000430.3(PAFAH1B1):c.441dupA (p.Gly148Argfs)5048PAFAH1B1Pathogenic797045861RCV000194728; RCV000481949; NMedGen:C0431375,OMIM:607432, Orphanet:ORPHA95232; MedGen:CN5172021725734982573498-C0431375 607432 Lissencephaly 1;
NM_000430.3(PAFAH1B1):c.446A>G (p.His149Arg)5048PAFAH1B1Pathogenic121434482RCV000008540; NMedGen:C0431375,OMIM:607432, Orphanet:ORPHA952321725735032573503OMIM Allelic Variant:601545.0001,UniProtKB (protein):P43034#VAR_007724C0431375 607432 Lissencephaly 1;
NM_000430.3(PAFAH1B1):c.455_456del (p.Ser152Cysfs)5048PAFAH1B1Pathogenic587784268RCV000147039; NMedGen:C0431375,OMIM:607432, Orphanet:ORPHA952321725735122573513NC_000017.10:g.2573512_2573513delCT-C0431375 607432 Lissencephaly 1;
NM_000430.3(PAFAH1B1):c.460C>T (p.Gln154Ter)5048PAFAH1B1Pathogenic587784269RCV000147040; NMedGen:C0431375,OMIM:607432, Orphanet:ORPHA952321725735172573517-C0431375 607432 Lissencephaly 1;
NM_000430.3(PAFAH1B1):c.484G>A (p.Gly162Ser)5048PAFAH1B1Pathogenic121434487RCV000008546; NMedGen:C0431375,OMIM:607432, Orphanet:ORPHA952321725735412573541OMIM Allelic Variant:601545.0007,UniProtKB (protein):P43034#VAR_015399C0431375 607432 Lissencephaly 1;
NM_000430.3(PAFAH1B1):c.503G>A (p.Cys168Tyr)5048PAFAH1B1Likely pathogenic200390886RCV000147041; NMedGen:C0431375,OMIM:607432, Orphanet:ORPHA952321725735602573560-C0431375 607432 Lissencephaly 1;
NM_000430.3(PAFAH1B1):c.514dup (p.Met172Asnfs)5048PAFAH1B1Pathogenic1555526718RCV000502531; NMedGen:C0431375,OMIM:607432, Orphanet:ORPHA952321725735712573571-C0431375 607432 Lissencephaly 1;
NM_000430.3(PAFAH1B1):c.523A>T (p.Lys175Ter)5048PAFAH1B1Pathogenic797045061RCV000191116; NMedGen:C0431375,OMIM:607432, Orphanet:ORPHA952321725735802573580-C0431375 607432 Lissencephaly 1;
NM_000430.3(PAFAH1B1):c.524_528del (p.Lys175Metfs)5048PAFAH1B1Pathogenic587784270RCV000147042; NMedGen:C0431375,OMIM:607432, Orphanet:ORPHA952321725735812573585NC_000017.10:g.2573581_2573585delAACTA-C0431375 607432 Lissencephaly 1;
NM_000430.3(PAFAH1B1):c.537del (p.Gln180Argfs)5048PAFAH1B1Pathogenic587784271RCV000147043; NMedGen:C0431375,OMIM:607432, Orphanet:ORPHA952321725735942573594NC_000017.10:g.2573594delT-C0431375 607432 Lissencephaly 1;
NM_000430.3(PAFAH1B1):c.537_538insT (p.Gln180Serfs)5048PAFAH1B1Pathogenic587784271RCV000192553; NMedGen:C0431375,OMIM:607432, Orphanet:ORPHA952321725735942573594-C0431375 607432 Lissencephaly 1;
NM_000430.3(PAFAH1B1):c.568+1G>A5048PAFAH1B1Pathogenic1555526733RCV000504157; NMedGen:C0431375,OMIM:607432, Orphanet:ORPHA952321725736262573626-C0431375 607432 Lissencephaly 1;
NM_000430.3(PAFAH1B1):c.569-10T>C5048PAFAH1B1Pathogenic/Likely pathogenic113994202RCV000623782; RCV000020304; RCV000494023; NMeSH:D030342,MedGen:C0950123; MedGen:C0431375,OMIM:607432, Orphanet:ORPHA95232; MedGen:CN5172021725759392575939-C0950123 Inborn genetic diseases;
NM_000430.3(PAFAH1B1):c.569-3delT5048PAFAH1B1Likely pathogenic797045863RCV000193791; NMedGen:C0431375,OMIM:607432, Orphanet:ORPHA952321725759462575946-C0431375 607432 Lissencephaly 1;
NM_000430.3(PAFAH1B1):c.632C>G (p.Ser211Ter)5048PAFAH1B1Pathogenic587784273RCV000147046; NMedGen:C0431375,OMIM:607432, Orphanet:ORPHA952321725760122576012-C0431375 607432 Lissencephaly 1;
NM_000430.3(PAFAH1B1):c.644_651del (p.Thr215Asnfs)5048PAFAH1B1Pathogenic587784274RCV000147047; NMedGen:C0431375,OMIM:607432, Orphanet:ORPHA952321725760242576031NC_000017.10:g.2576024_2576031delCTATAAAA-C0431375 607432 Lissencephaly 1;
NM_000430.3(PAFAH1B1):c.647_648del (p.Ile216Lysfs)5048PAFAH1B1Pathogenic587784275RCV000147048; NMedGen:C0431375,OMIM:607432, Orphanet:ORPHA952321725760272576028NC_000017.10:g.2576027_2576028delTA-C0431375 607432 Lissencephaly 1;
NM_000430.3(PAFAH1B1):c.657G>A (p.Trp219Ter)5048PAFAH1B1Pathogenic587784276RCV000147049; NMedGen:C0431375,OMIM:607432, Orphanet:ORPHA952321725760372576037-C0431375 607432 Lissencephaly 1;
NM_000430.3(PAFAH1B1):c.658del (p.Glu220Lysfs)5048PAFAH1B1Pathogenic587784277RCV000147050; NMedGen:C0431375,OMIM:607432, Orphanet:ORPHA952321725760382576038NC_000017.10:g.2576038delG-C0431375 607432 Lissencephaly 1;
NM_000430.3(PAFAH1B1):c.664C>T (p.Gln222Ter)5048PAFAH1B1Pathogenic587784278RCV000147051; NMedGen:C0431375,OMIM:607432, Orphanet:ORPHA952321725760442576044-C0431375 607432 Lissencephaly 1;
NM_000430.3(PAFAH1B1):c.667_668insA (p.Thr223Asnfs)5048PAFAH1B1Pathogenic797045864RCV000194642; NMedGen:C0431375,OMIM:607432, Orphanet:ORPHA952321725760472576047-C0431375 607432 Lissencephaly 1;
NM_000430.3(PAFAH1B1):c.671G>A (p.Gly224Asp)5048PAFAH1B1Pathogenic587784281RCV000147054; NMedGen:C0431375,OMIM:607432, Orphanet:ORPHA952321725760512576051-C0431375 607432 Lissencephaly 1;
NM_000430.3(PAFAH1B1):c.671+4A>G5048PAFAH1B1Likely pathogenic587784279RCV000147052; NMedGen:C0431375,OMIM:607432, Orphanet:ORPHA952321725760552576055-C0431375 607432 Lissencephaly 1;
NM_000430.3(PAFAH1B1):c.671+5G>A5048PAFAH1B1Likely pathogenic587784280RCV000147053; NMedGen:C0431375,OMIM:607432, Orphanet:ORPHA952321725760562576056-C0431375 607432 Lissencephaly 1;
NM_000430.3(PAFAH1B1):c.675C>G (p.Tyr225Ter)5048PAFAH1B1Pathogenic587784282RCV000147055; NMedGen:C0431375,OMIM:607432, Orphanet:ORPHA952321725773572577357-C0431375 607432 Lissencephaly 1;
NM_000430.3(PAFAH1B1):c.687A>T (p.Thr229=)5048PAFAH1B1Uncertain significance587784283RCV000147056; NMedGen:C0431375,OMIM:607432, Orphanet:ORPHA952321725773692577369-C0431375 607432 Lissencephaly 1;
NM_000430.3(PAFAH1B1):c.703_704delGA (p.Glu235Metfs)5048PAFAH1B1Pathogenic797045865RCV000623963; RCV000192866; RCV000599007; NMeSH:D030342,MedGen:C0950123; MedGen:C0431375,OMIM:607432, Orphanet:ORPHA95232; MedGen:CN5172021725773852577386-C0950123 Inborn genetic diseases;
NM_000430.3(PAFAH1B1):c.716dupT (p.Met239Ilefs)5048PAFAH1B1Pathogenic587784284RCV000147058; NMedGen:C0431375,OMIM:607432, Orphanet:ORPHA952321725773982577398-C0431375 607432 Lissencephaly 1;
NM_000430.3(PAFAH1B1):c.728_732dup (p.Asp245Ilefs)5048PAFAH1B1Pathogenic797045867RCV000194563; NMedGen:C0431375,OMIM:607432, Orphanet:ORPHA952321725774102577414NC_000017.10:g.2577410_2577414dupATCAA-C0431375 607432 Lissencephaly 1;
NM_000430.3(PAFAH1B1):c.730C>T (p.Gln244Ter)5048PAFAH1B1Pathogenic587784286RCV000147060; NMedGen:C0431375,OMIM:607432, Orphanet:ORPHA952321725774122577412-C0431375 607432 Lissencephaly 1;
NM_000430.3(PAFAH1B1):c.751A>C (p.Ser251Arg)5048PAFAH1B1Likely pathogenic587784287RCV000147061; NMedGen:C0431375,OMIM:607432, Orphanet:ORPHA952321725774332577433-C0431375 607432 Lissencephaly 1;
NM_000430.3(PAFAH1B1):c.770_772delCTGinsTGACCCA (p.Thr257Metfs)5048PAFAH1B1Pathogenic797045868RCV000192780; NMedGen:C0431375,OMIM:607432, Orphanet:ORPHA952321725774522577454-C0431375 607432 Lissencephaly 1;
NM_000430.3(PAFAH1B1):c.771_772del (p.Val258Alafs)5048PAFAH1B1Pathogenic797045869RCV000194019; NMedGen:C0431375,OMIM:607432, Orphanet:ORPHA952321725774532577454NC_000017.10:g.2577453_2577454delTG-C0431375 607432 Lissencephaly 1;
NM_000430.3(PAFAH1B1):c.817C>T (p.Arg273Ter)5048PAFAH1B1Pathogenic121434483RCV000008541; RCV000255710; NMedGen:C0431375,OMIM:607432, Orphanet:ORPHA95232; MedGen:CN5172021725774992577499OMIM Allelic Variant:601545.0002C0431375 607432 Lissencephaly 1;
NM_000430.3(PAFAH1B1):c.818G>A (p.Arg273Gln)5048PAFAH1B1Likely pathogenic794729199RCV000184018; NMedGen:C0431375,OMIM:607432, Orphanet:ORPHA952321725775002577500-C0431375 607432 Lissencephaly 1;
NM_000430.3(PAFAH1B1):c.829_830insC (p.His277Profs)5048PAFAH1B1Pathogenic797045870RCV000195211; NMedGen:C0431375,OMIM:607432, Orphanet:ORPHA952321725775112577511-C0431375 607432 Lissencephaly 1;
NM_000430.3(PAFAH1B1):c.830A>C (p.His277Pro)5048PAFAH1B1Pathogenic121434490RCV000008550; NMedGen:C0431375,OMIM:607432, Orphanet:ORPHA952321725775122577512OMIM Allelic Variant:601545.0010,UniProtKB (protein):P43034#VAR_037301C0431375 607432 Lissencephaly 1;
NM_000430.3(PAFAH1B1):c.841T>C (p.Cys281Arg)5048PAFAH1B1Pathogenic587784288RCV000147063; NMedGen:C0431375,OMIM:607432, Orphanet:ORPHA952321725775232577523-C0431375 607432 Lissencephaly 1;
NM_000430.3(PAFAH1B1):c.851G>A (p.Trp284Ter)5048PAFAH1B1Pathogenic587784289RCV000147065; NMedGen:C0431375,OMIM:607432, Orphanet:ORPHA952321725775332577533-C0431375 607432 Lissencephaly 1;
NM_000430.3(PAFAH1B1):c.852G>A (p.Trp284Ter)5048PAFAH1B1Pathogenic-1RCV000680056; NMedGen:C0431375,OMIM:607432, Orphanet:ORPHA952321725775342577534-C0431375 607432 Lissencephaly 1;
NM_000430.3(PAFAH1B1):c.899A>G (p.Glu300Gly)5048PAFAH1B1Likely pathogenic1555527149RCV000504340; NMedGen:C0431375,OMIM:607432, Orphanet:ORPHA952321725775812577581-C0431375 607432 Lissencephaly 1;
NM_000430.3(PAFAH1B1):c.900G>A (p.Glu300=)5048PAFAH1B1Likely pathogenic587784291RCV000147067; NMedGen:C0431375,OMIM:607432, Orphanet:ORPHA952321725775822577582-C0431375 607432 Lissencephaly 1;
NM_000430.3(PAFAH1B1):c.900G>C (p.Glu300Asp)5048PAFAH1B1Likely pathogenic587784291RCV000500981; NMedGen:C0431375,OMIM:607432, Orphanet:ORPHA952321725775822577582-C0431375 607432 Lissencephaly 1;
NM_000430.3(PAFAH1B1):c.900+1G>A5048PAFAH1B1Pathogenic587784290RCV000147066; NMedGen:C0431375,OMIM:607432, Orphanet:ORPHA952321725775832577583-C0431375 607432 Lissencephaly 1;
NM_000430.3(PAFAH1B1):c.910del (p.Ser304Valfs)5048PAFAH1B1Pathogenic587784292RCV000147068; NMedGen:C0431375,OMIM:607432, Orphanet:ORPHA952321725798082579808NC_000017.10:g.2579808delA-C0431375 607432 Lissencephaly 1;
NM_000430.3(PAFAH1B1):c.911del (p.Ser304Metfs)5048PAFAH1B1Pathogenic797045871RCV000193085; NMedGen:C0431375,OMIM:607432, Orphanet:ORPHA952321725798092579809NC_000017.10:g.2579809delG-C0431375 607432 Lissencephaly 1;
NM_000430.3(PAFAH1B1):c.933_934insG (p.Leu312Alafs)5048PAFAH1B1Pathogenic797045872RCV000193935; NMedGen:C0431375,OMIM:607432, Orphanet:ORPHA952321725798312579831-C0431375 607432 Lissencephaly 1;
NM_000430.3(PAFAH1B1):c.938C>T (p.Ser313Phe)5048PAFAH1B1Likely pathogenic587784293RCV000147069; NMedGen:C0431375,OMIM:607432, Orphanet:ORPHA952321725798362579836-C0431375 607432 Lissencephaly 1;
NM_000430.3(PAFAH1B1):c.949G>C (p.Asp317His)5048PAFAH1B1Pathogenic121434485RCV000008544; NMedGen:C0431375,OMIM:607432, Orphanet:ORPHA952321725798472579847OMIM Allelic Variant:601545.0005,UniProtKB (protein):P43034#VAR_015400C0431375 607432 Lissencephaly 1;
NM_000430.3(PAFAH1B1):c.965T>G (p.Met322Arg)5048PAFAH1B1Likely pathogenic587784294RCV000147070; NMedGen:C0431375,OMIM:607432, Orphanet:ORPHA952321725798632579863-C0431375 607432 Lissencephaly 1;
NM_000430.3(PAFAH1B1):c.991_1002+10del5048PAFAH1B1Pathogenic-1RCV000008542; NMedGen:C0431375,OMIM:607432, Orphanet:ORPHA952321725798892579910OMIM Allelic Variant:601545.0003C0431375 607432 Lissencephaly 1;
NM_000430.3(PAFAH1B1):c.1002+1G>A5048PAFAH1B1Pathogenic113994203RCV000020297; NMedGen:C0431375,OMIM:607432, Orphanet:ORPHA952321725799012579901-C0431375 607432 Lissencephaly 1;
NM_000430.3(PAFAH1B1):c.1002+5G>A5048PAFAH1B1Pathogenic587784235RCV000147002; NMedGen:C0431375,OMIM:607432, Orphanet:ORPHA952321725799052579905-C0431375 607432 Lissencephaly 1;
NM_000430.3(PAFAH1B1):c.1003-30_1032del5048PAFAH1B1Pathogenic1555527743RCV000193329; NMedGen:C0431375,OMIM:607432, Orphanet:ORPHA952321725834282583487-C0431375 607432 Lissencephaly 1;
NC_000017.11:g.(?_2680139)_(2681852_?)del5048PAFAH1B1Likely pathogenic-1RCV000585868; NMedGen:C0431375,OMIM:607432, Orphanet:ORPHA952321725834332585146-C0431375 607432 Lissencephaly 1;
NM_000430.3(PAFAH1B1):c.1009C>G (p.His337Asp)5048PAFAH1B1Likely pathogenic587784236RCV000147004; NMedGen:C0431375,OMIM:607432, Orphanet:ORPHA952321725834642583464-C0431375 607432 Lissencephaly 1;
NM_000430.3(PAFAH1B1):c.1009C>T (p.His337Tyr)5048PAFAH1B1Pathogenic587784236RCV000147005; NMedGen:C0431375,OMIM:607432, Orphanet:ORPHA952321725834642583464-C0431375 607432 Lissencephaly 1;
NM_000430.3(PAFAH1B1):c.1018_1019insT (p.Trp340Leufs)5048PAFAH1B1Pathogenic797045855RCV000194197; NMedGen:C0431375,OMIM:607432, Orphanet:ORPHA952321725834732583473-C0431375 607432 Lissencephaly 1;
NM_000430.3(PAFAH1B1):c.1024_1031del (p.Arg342Serfs)5048PAFAH1B1Pathogenic587784237RCV000147006; NMedGen:C0431375,OMIM:607432, Orphanet:ORPHA952321725834792583486NC_000017.10:g.2583479_2583486delCGTGGAGT-C0431375 607432 Lissencephaly 1;
NM_000430.3(PAFAH1B1):c.1050delG (p.Lys351Serfs)5048PAFAH1B1Pathogenic113994200RCV000020298; RCV000254776; NMedGen:C0431375,OMIM:607432, Orphanet:ORPHA95232; MedGen:CN5172021725835052583505-C0431375 607432 Lissencephaly 1;
NM_000430.3(PAFAH1B1):c.1050dupG (p.Lys351Glufs)5048PAFAH1B1Pathogenic113994200RCV000020299; NMedGen:C0431375,OMIM:607432, Orphanet:ORPHA952321725835052583505-C0431375 607432 Lissencephaly 1;
NM_000430.3(PAFAH1B1):c.1063del (p.Ser355Valfs)5048PAFAH1B1Pathogenic587784238RCV000147007; NMedGen:C0431375,OMIM:607432, Orphanet:ORPHA952321725835182583518NC_000017.10:g.2583518delA-C0431375 607432 Lissencephaly 1;
NM_000430.3(PAFAH1B1):c.1064G>A (p.Ser355Asn)5048PAFAH1B1Pathogenic587784239RCV000147008; NMedGen:C0431375,OMIM:607432, Orphanet:ORPHA952321725835192583519-C0431375 607432 Lissencephaly 1;
NM_000430.3(PAFAH1B1):c.1100del (p.Tyr367Serfs)5048PAFAH1B1Pathogenic587784240RCV000147009; NMedGen:C0431375,OMIM:607432, Orphanet:ORPHA952321725835552583555NC_000017.10:g.2583555delA-C0431375 607432 Lissencephaly 1;
NM_000430.3(PAFAH1B1):c.1111C>T (p.Arg371Ter)5048PAFAH1B1Pathogenic587784241RCV000147010; NMedGen:C0431375,OMIM:607432, Orphanet:ORPHA952321725835662583566-C0431375 607432 Lissencephaly 1;
NM_000430.3(PAFAH1B1):c.1135C>T (p.His379Tyr)5048PAFAH1B1Pathogenic587784242RCV000147011; NMedGen:C0431375,OMIM:607432, Orphanet:ORPHA952321725835902583590-C0431375 607432 Lissencephaly 1;
NM_000430.3(PAFAH1B1):c.1159G>T (p.Asp387Tyr)5048PAFAH1B1Pathogenic587784244RCV000147013; NMedGen:C0431375,OMIM:607432, Orphanet:ORPHA952321725836142583614-C0431375 607432 Lissencephaly 1;
NM_000430.3(PAFAH1B1):c.1159+1G>A5048PAFAH1B1Pathogenic1057520515RCV000502763; RCV000424252; NMedGen:C0431375,OMIM:607432, Orphanet:ORPHA95232; MedGen:CN5172021725836152583615-C0431375 607432 Lissencephaly 1;
NM_000430.3(PAFAH1B1):c.1159+2T>A5048PAFAH1B1Pathogenic587784243RCV000147012; NMedGen:C0431375,OMIM:607432, Orphanet:ORPHA952321725836162583616-C0431375 607432 Lissencephaly 1;
NM_000430.3(PAFAH1B1):c.1165C>T (p.His389Tyr)5048PAFAH1B1Pathogenic587784245RCV000147014; NMedGen:C0431375,OMIM:607432, Orphanet:ORPHA952321725850282585028-C0431375 607432 Lissencephaly 1;
NM_000430.3(PAFAH1B1):c.1188C>T (p.Val396=)5048PAFAH1B1Uncertain significance587784246RCV000147015; NMedGen:C0431375,OMIM:607432, Orphanet:ORPHA952321725850512585051-C0431375 607432 Lissencephaly 1;
NM_000430.3(PAFAH1B1):c.1190C>T (p.Thr397Ile)5048PAFAH1B1Uncertain significance1131691295RCV000709855; RCV000492828; NMedGen:C0431375,OMIM:607432, Orphanet:ORPHA95232; MedGen:CN1693741725850532585053-CN169374 not specified;
NM_000430.3(PAFAH1B1):c.1193G>A (p.Gly398Asp)5048PAFAH1B1Likely pathogenic587784247RCV000147016; NMedGen:C0431375,OMIM:607432, Orphanet:ORPHA952321725850562585056-C0431375 607432 Lissencephaly 1;
NM_000430.3(PAFAH1B1):c.1196G>C (p.Ser399Thr)5048PAFAH1B1Pathogenic587784248RCV000147017; NMedGen:C0431375,OMIM:607432, Orphanet:ORPHA952321725850592585059-C0431375 607432 Lissencephaly 1;
NM_000430.3(PAFAH1B1):c.1201G>C (p.Asp401His)5048PAFAH1B1Pathogenic587784249RCV000147018; NMedGen:C0431375,OMIM:607432, Orphanet:ORPHA952321725850642585064-C0431375 607432 Lissencephaly 1;
NM_000430.3(PAFAH1B1):c.1233A>C (p.Ter411Cys)5048PAFAH1B1Pathogenic587784251RCV000147020; NMedGen:C0431375,OMIM:607432, Orphanet:ORPHA952321725850962585096-C0431375 607432 Lissencephaly 1;
NM_000430.3(PAFAH1B1):c.*3G>T5048PAFAH1B1Benign113994197RCV000149407; NMedGen:C0431375,OMIM:607432, Orphanet:ORPHA952321725850992585099-C0431375 607432 Lissencephaly 1;
NM_000430.3(PAFAH1B1):c.*17C>T5048PAFAH1B1Benign6628RCV000020300; RCV000376479; RCV000078809; NMedGen:C0431375,OMIM:607432, Orphanet:ORPHA95232; MedGen:CN239259; MedGen:CN1693741725851132585113-C0431375 607432 Lissencephaly 1;
MSeqDR Portal